Δευτέρα, 31 Οκτωβρίου 2016

Complete response to post-transplant lymphoproliferative disorder by surgical resection and rituximab after living-donor liver re-transplantation for recurrent primary sclerosing cholangitis

Abstract

Post-transplant lymphoproliferative disorder (PTLD) is a life-threatening complication of solid organ transplantation. We herein report a case of PTLD after living-donor liver re-transplantation (reLDLT) for recurrent primary sclerosing cholangitis (PSC), for which complete response was achieved by surgical resection and rituximab. A 47-year-old man, who had undergone living-donor liver transplantation (LDLT) twice at age of 43 and 45 years for end-stage liver disease firstly for PSC and secondary for recurrent PSC, suffered liver dysfunction due to an acute cellular rejection (ACR) 17 months after reLDLT. At reLDLT, a right liver lobe was donated from his spouse. Although steroid was effective for ACR, PTLD developed in the ileocecal area. The patient received rituximab for treatment of PTLD, and ileocecal resection for hemorrhage from ileocecal PTLD. The patient achieved complete response by rituximab and surgical resection for PTLD, but PSC recurred and hemophagocytic syndrome (HPS) developed with hyperbilirubinemia and elevated serum ferritin. The patient received steroid treatment for HPS, but thrombocytopenia and coagulopathy developed presumably due to thrombotic microangiopathy. Therefore, tacrolimus was switched to mycophenolate mofetil. Despite intensive treatment including plasmapheresis and platelet infusion, fungal infection of both lungs developed, and the patient died 22 months after reLDLT. Autopsy revealed complete response of PTLD, recurrence of PSC and persistance of HPS.



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Reply from Pei-Chi Yang, Jonathan D. Moreno, Mao-Tsuen Jeng, Xander H. T. Wehrens, Sergei Noskov and Colleen E. Clancy



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Issue Information



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Questioning flecainide's mechanism of action in the treatment of catecholaminergic polymorphic ventricular tachycardia



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Bile as a key aetiological factor of acute but not chronic pancreatitis: a possible theory revealed



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Aberrant reflex mechanisms contributing to reno-vascular hypertension: a pain in the neck?



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Mitochondrial-derived vesicles: a new player in cardiac mitochondrial quality control



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On the molecular mechanism of renal salt excretion modulation by extracellular potassium



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Assessing the Gene Content of the Megagenome: Sugar Pine (Pinus lambertiana)

Sugar pine (Pinus lambertiana Douglas) is within the subgenus Strobus with an estimated genome size of 31 Gbp. Transcriptomic resources are of particular interest in conifers due to the challenges presented in their megagenomes for gene identification. In this study, we present the first comprehensive survey of the P. lambertiana transcriptome through deep sequencing of a variety of tissue types to generate more than 2.5 billion short reads. Third generation, long reads generated through PacBio Iso-Seq has been included for the first time in conifers to combat the challenges associated with de novo transcriptome assembly. A technology comparison is provided here contribute to the otherwise scarce comparisons of 2nd and 3rd generation transcriptome sequencing approaches in plant species. In addition, the transcriptome reference was essential for gene model identification and quality assessment in the parallel project responsible for sequencing and assembly of the entire genome. In this study, the transcriptomic data was also used to address some of the questions surrounding lineage-specific Dicer-like proteins in conifers. These proteins play a role in the control of transposable element proliferation and the related genome expansion in conifers.



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Immunity, atherogenesis and vascular function



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Botulinum Toxin for Chronic Exertional Compartment Syndrome: A Case Report With 14 Month Follow-Up

imageAbstract: Chronic exertional compartment syndrome (CECS) presents a unique therapeutic challenge. Fasciotomy, currently the most well accepted treatment approach, still has a significant number of treatment failures, demonstrating the need for additional options. Botulinum toxin has been introduced as a potential therapeutic agent, but long-term outcomes are unknown. We present the longest documented follow-up (14 months) of a CECS case treated with botulinum toxin injections. At 14 months follow-up, the patient reported continued pain relief and had resumed her active lifestyle without any adverse effects. Although more research is needed to optimize patient selection and treatment protocol, this case illustrates the potential for botulinum toxin as a long duration, low risk alternative treatment option for CECS.

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Aerial low-frequency hearing in captive and free-ranging harbour seals ( Phoca vitulina ) measured using auditory brainstem responses

Abstract

The hearing sensitivity of 18 free-ranging and 10 captive harbour seals (Phoca vitulina) to aerial sounds was measured in the presence of typical environmental noise through auditory brainstem response measurements. A focus was put on the comparative hearing sensitivity at low frequencies. Low- and mid-frequency thresholds appeared to be elevated in both captive and free-ranging seals, but this is likely due to masking effects and limitations of the methodology used. The data also showed individual variability in hearing sensitivity with probable age-related hearing loss found in two old harbour seals. These results suggest that the acoustic sensitivity of free-ranging animals was not negatively affected by the soundscape they experienced in the wild.



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Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum

We describe a patient with failure to thrive, hepatomegaly, liver dysfunction, and elevation of multiple plasma lysosomal enzyme activities mimicking mucolipidosis II or III, in whom a diagnosis of hereditary fructose intolerance (HFI) was ultimately obtained. She presented before introduction of solid foods, given her consumption of a fructose-containing infant formula. We present the most extensive panel of lysosomal enzyme activities reported to date in a patient with HFI, and propose that multiple enzyme elevations in plasma, especially when in conjunction with a normal plasma α-mannosidase activity, should elicit a differential diagnosis of HFI. We also performed a review of the literature on the different etiologies of elevated lysosomal enzyme activities in serum or plasma. © 2016 Wiley Periodicals, Inc.



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Paramedic - 161501 - Hennepin County Medical Center

The Paramedic position is responsible for responding to requests for emergency medical services and for providing Basic and Advanced Life Support to sick and injured persons at emergency scenes and during transport to a health care facility. We are currently hiring for multiple full-time openings. Schedule will be day/eve/night including rotating weekends and holidays based on department needs. This ...

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How I got through a well-being check

"Haven't seen him in a week," said the man who called us to his home.

Like a lot of folks in the industrial city of Providence, Rhode Island he lived on the second floor of the three level home, rented the first floor to his mom, and the third to whoever answered the ad he posted and seemed decent enough.

"Is that unusual?" I asked.

"He stays to himself mostly, but there's usually some sign of life up there, footsteps, a TV, doors closing, you know."

Yeah, I know. Wish I didn't. I wish I had some Vicks to rub under my nose.

"How old is he?"

"Not too old, 50 maybe," said the man.

Fifty. Not too old. Ha ha. My own 50 years seemed to take a lifetime to reach.

We entered the rear hallway. The stairs led straight up to a landing and a door. There was a shamrock decal stuck there and greasy fingerprints around the doorknob.

"Is that smell normal," I asked the landlord who had followed us?

"He's not the cleanest tenant, but this is bad."

"Yeah, it is."

The landlord opened the door and the smell got worse. A clean stove — not because the tenant was a neatnik, rather it was seldom used. Some empty cans of canned spaghetti and balls of whatever they called meat were on a folding card table that served as his dinette. Dirty dishes spilled out of the sink and onto the counter.

The refrigerator stood in the corner inviting me to open it up. Nothing in there, not even a beer.

"Hello, anybody home?" I shouted, knowing the only answer would be my echo.

He was home alright. I could smell him.

I followed the trail to three doors in a rear hallway. Door number one, door number two or door number three. One of the doors had a string of neckties tied together, starting at the door handle and going over the top.

"Rescue 1 to Fire Alarm, start the police to this address."

"Roger Rescue 1, nature?"

"Possible suicide."

I pushed the middle door. It gave a little but would not open. So I pushed a little harder.

"Here he is."

It was now a crime scene, but I needed to confirm that the man was gone. I got the door open about a foot, squeezed through and watched a dead man's weight force the door shut. He had tied the last of the neckties around his neck, strung the rest over the top of the door, tied the last to the opposite side doorknob, kneeled in front of the door, inside his bedroom, facing the back of the door and closed it.

Slowly?

Quickly?

Did he slam the door?

Did he lean into it?

I couldn't figure out the mechanics of it and realized I was spending way too much time thinking about it. Everything inside him had let go. He was bloated, stiff and dead.

Pictures of a woman and some kids had been pinned to the back of the door. I squeezed back through the doorway, pushing the body with the door.

Thankfully you can look at pictures, but they can't look back.

"Does he have any friends or family?"

"He's lived here for a year, since he got out of prison. Nobody visits that I've seen."

Nobody.

The man at the end of the ties was a lot like the homeless ex-con that had been in the ambulance a few hours before we responded to this home. He was intoxicated, but able to talk. His main concern was finding work. He had no address, no references, no money and no past to put on an application. He had been staying at a shelter, waiting for a break. He seemed like a nice enough guy so I told him about a place my brother, a correctional officer told me about, a place that gave ex-cons a chance.

It is difficult to not judge the people that we meet during our shift. As years in EMS add up, and similar experiences begin to appear the same and the people who make up those experiences say the same things, have the same complaints and even look the same, our empathy can fade. For some EMS providers it takes years while others lose it rather quickly. Then there are those who keep it together for their entire career.

Instead of dwelling on the man who gave up, I was able to focus on the one who looked like a living version of the dead guy, who now had a business name for an apartment and an address in his top pocket. I didn't know it when I handed the note to him, but the look of gratitude on his face would get me through a difficult call, and the rest of the shift.



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What role do point-of-care devices have in firefighter rehab?

This article first appeared on FireRehab.com, sponsored by Masimo.

By Jay MacNeal with Todd Daniello, Ken Hanson, Mitch Li, Sean Marquis, John Pakiela, Matt Smetana and Chris Wistrom

The ability to rapidly and reliably perform laboratory testing at the patient bedside has taken huge leaps in recent years. There are devices to quickly check a patient's blood sugar, electrolytes, INR, cardiac enzymes, lactic acid and other biomarkers.

Do these devices have a role in the rehab area, or are they only suited for in-hospital care" Glucometers, pulse oximetry, end-tidal carbon dioxide and carbon monoxide (CO) oximetry are all common in EMS, but the use of i-STAT or other point-of-care testing devices is a bit outside the norm of most EMS operations.

To examine the appropriateness of these point-of-care testing options, we must consider the costs and human resources it will require to maintain the processing device, sampling equipment and replacement cartridges, perform calibration and training, obtain CLIA waivers, apply interpretation of the results to immediate patient care and other challenges important to EMS.

With all of that in mind, let's explore some available point-of-care testing tools and their potential usefulness or application for on-scene rehab of firefighters and other emergency personnel.

ECG and 12-lead EKG
Probably the least frequently used point-of-care test in the rehab environment is the one that has been around the longest. An EKG is an excellent tool in analysis of the person with chest pain or persistent shortness of breath, but it is much more versatile.

By using intervals and morphology of QRS, QTc and T waves we can glean insight into severe electrolyte disturbance, including hypo- or hyperkalemia and hypo- or hypernatremia. Both of these are significant concerns in sports medicine, and it makes sense that we would have the same issues in heat-stressed responders.

One of the steps in risk stratifying patients who have chest pain in the hospital is to subject them to a stress test. This involves exercising or stressing the heart to ensure its ability to maintain adequate perfusion and oxygenation during high demand periods.

Any degree of active or even passive firefighting involves the release of adrenaline and generation and sometimes impaired loss of heat, as well as significant exertion, which all equate to stress on the heart.

Firefighters are at a higher than average risk for heart disease and sudden death than the general population. The complaint of chest pain on the fire scene should most certainly be taken seriously and prompt an appropriate evaluation, including the performance of an on-site 12-lead EKG and timely transport to the hospital for further evaluation.

Lactate levels
The measurement of point-of-care lactic acid levels is an interesting notion. We know that lactic acid is a product of aerobic and anaerobic metabolism. It is found in high levels in those who are hypoperfused, such as sepsis and shock patients [1].

This biomarker as a prehospital point-of-care test is not widely used, but it may become an important assessment tool as mobile integrated health care progresses. Its utility in rehab is uncertain.

CO exposure
Carbon monoxide and cyanide are commonly found in the air on scene of active fires. CO needs to be a concern in confined-space operations as well. Any worker with headache, nausea, vomiting, weakness or altered mental status must be considered for CO exposure.

The Rad-57 is a commonly carried oximeter that will read O2 and CO saturations. It is important to note that whether using Rad-57 for routine CO screening or COHb blood testing in the hospital, a level of CO means almost nothing without a correlating physical examination.

Any patient with symptoms consistent with CO poisoning should be placed on high-flow oxygen and transported for formal laboratory evaluation and thorough workup at the emergency department. Any fire victims or exposed responders with altered mental status should be assumed to have high CO and cyanide levels and need to be aggressively treated.

ETCO2
Carbon dioxide along with water and ATP are produced as a byproduct of cellular metabolism as our bodies consume oxygen and glucose. Following its production, CO2 is transported in the blood and is exhaled through the lungs, where it provides a convenient source to be measured. CO2 measured at the end of an exhaled breath is known as ETCO2.

Basic physiology dictates that as the body becomes more acidic, the carbonic acid buffering system balance shifts toward producing more CO2. A normal ETCO2 is between 35-45 mm Hg. Quantitative ETCO2 is directly related to cardiac perfusion, with a decrease in perfusion leading to a lower ETCO2. A patient with low cardiac output from any number of shock states does not deliver as much CO2 back from the bloodstream to the lungs to be exhaled, which subsequently results in decreased ETCO2 levels.

The use of capnography to measure ETCO2 has been gaining popularity in EMS, with applications from intubation confirmation to sepsis detection. Use of ETCO2 has long been the standard for ventillatory monitoring during anesthesia and procedural sedation.

It is not unrealistic to see ETCO2 utility in firefighter rehab as more and more ALS and BLS services use this technology on a routine basis.

In addition to the quantitative number that is generated, the capnography waveform can also be used to assist in diagnosis of the firefighter in rehab. A bronchospasm waveform is characterized by changes in the ascending phase with loss of the sharp upslope resulting in a shark fin appearance. This is due to uneven emptying of CO2 by the alveoli during exhalation. Correlated with a physical exam, this measurement can also be used to guide treatment and the response to treatment in the firefighter with bronchospasm.

Finally, when using quantitative capnography a respiratory rate is displayed, which can assist in quickly gathering and trending vital signs of firefighters who present to rehab. This saves time and resources over counting respirations, which is frequently inaccurate and time-consuming.

Use of ETCO2 can be an excellent diagnostic aid in the rehab sector of firefighting operations, but remember that diagnostic tests, regardless of their ability and value, must be interpreted in the context of the patient's clinical picture.

Conclusion
The assessment of anyone going through the rehab process should be dictated primarily by patient history, physical exam and field-proven point-of-care testing. It is unlikely that on-scene labs will be used routinely in the rehab sector unless costs decrease considerably. Pulse oximetry, EKG, ETCO2 and CO oximetry will likely continue to be the mainstays of rehab operations for some time to come.

Having formal rehab protocols, sign-in sheets, individual accountability and the support of incident commanders is crucial to rehab operations. Once in rehab, the responders become the responsibility of those running rehab.

EMS providers who are responsible for rehab operations should be familiar with local EMS protocols and NFPA 1584. In the event that a specific protocol does not cover a condition encountered on scene, medical direction should be contacted and transport initiated. We need to take a conservative approach to protecting the well-being and lives of our responders.

References

1. Hunter et al: End-tidal carbon dioxide is associated with mortality and lactate in patients with suspected sepsis. American Journal of Emergency Medicine (2013) 31, 64–71



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How I got through a well-being check

"Haven't seen him in a week," said the man who called us to his home.

Like a lot of folks in the industrial city of Providence, Rhode Island he lived on the second floor of the three level home, rented the first floor to his mom, and the third to whoever answered the ad he posted and seemed decent enough.

"Is that unusual"" I asked.

"He stays to himself mostly, but there's usually some sign of life up there, footsteps, a TV, doors closing, you know."

Yeah, I know. Wish I didn't. I wish I had some Vicks to rub under my nose.

"How old is he""

"Not too old, 50 maybe," said the man.

Fifty. Not too old. Ha ha. My own 50 years seemed to take a lifetime to reach.

We entered the rear hallway. The stairs led straight up to a landing and a door. There was a shamrock decal stuck there and greasy fingerprints around the doorknob.

"Is that smell normal," I asked the landlord who had followed us"

"He's not the cleanest tenant, but this is bad."

"Yeah, it is."

The landlord opened the door and the smell got worse. A clean stove — not because the tenant was a neatnik, rather it was seldom used. Some empty cans of canned spaghetti and balls of whatever they called meat were on a folding card table that served as his dinette. Dirty dishes spilled out of the sink and onto the counter.

The refrigerator stood in the corner inviting me to open it up. Nothing in there, not even a beer.

"Hello, anybody home"" I shouted, knowing the only answer would be my echo.

He was home alright. I could smell him.

I followed the trail to three doors in a rear hallway. Door number one, door number two or door number three. One of the doors had a string of neckties tied together, starting at the door handle and going over the top.

"Rescue 1 to Fire Alarm, start the police to this address."

"Roger Rescue 1, nature""

"Possible suicide."

I pushed the middle door. It gave a little but would not open. So I pushed a little harder.

"Here he is."

It was now a crime scene, but I needed to confirm that the man was gone. I got the door open about a foot, squeezed through and watched a dead man's weight force the door shut. He had tied the last of the neckties around his neck, strung the rest over the top of the door, tied the last to the opposite side doorknob, kneeled in front of the door, inside his bedroom, facing the back of the door and closed it.

Slowly"

Quickly"

Did he slam the door"

Did he lean into it"

I couldn't figure out the mechanics of it and realized I was spending way too much time thinking about it. Everything inside him had let go. He was bloated, stiff and dead.

Pictures of a woman and some kids had been pinned to the back of the door. I squeezed back through the doorway, pushing the body with the door.

Thankfully you can look at pictures, but they can't look back.

"Does he have any friends or family""

"He's lived here for a year, since he got out of prison. Nobody visits that I've seen."

Nobody.

The man at the end of the ties was a lot like the homeless ex-con that had been in the ambulance a few hours before we responded to this home. He was intoxicated, but able to talk. His main concern was finding work. He had no address, no references, no money and no past to put on an application. He had been staying at a shelter, waiting for a break. He seemed like a nice enough guy so I told him about a place my brother, a correctional officer told me about, a place that gave ex-cons a chance.

It is difficult to not judge the people that we meet during our shift. As years in EMS add up, and similar experiences begin to appear the same and the people who make up those experiences say the same things, have the same complaints and even look the same, our empathy can fade. For some EMS providers it takes years while others lose it rather quickly. Then there are those who keep it together for their entire career.

Instead of dwelling on the man who gave up, I was able to focus on the one who looked like a living version of the dead guy, who now had a business name for an apartment and an address in his top pocket. I didn't know it when I handed the note to him, but the look of gratitude on his face would get me through a difficult call, and the rest of the shift.



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Assessment of physicians' knowledge in transfusion medicine in eastern part of Turkey

2016-10-31T07-16-56Z
Source: Medicine Science | International Medical Journal
Ali Fettah, Duygu Kara, Gökçe Pınar Reis, Alev Cansu Certel, Soner Sertan Kara.
Transfusion of blood and blood components is one of the most common medical procedures in the developed world. Knowledge of physicians about blood transfusion is the most important determinant of their approach towards blood transfusion. In this study, we aimed to assess clinicians' basic knowledge regarding transfusion medicine through a questionnaire in a regional hospital. One hundred and one physicians including general practitioners, resident physicians, and specialists participated in the study. The participants were tested with a questionnaire consisting of 20 questions about transfusion medicine. Their scores were compared with regard to their departments, age and experience in medicine. The mean age of study population was 33.1±6 years. Of the total, 70 (69.3%) were male and the average year in medical practice was 7.3±5.8 years. Overall, 52% of the questions were correctly answered. The proportion of correct answers to the questions about basic knowledge, clinical use of blood, and transfusion reactions were as; 52.7%, 54.7%, and 47.3%, respectively. Thirty-four (33.7%) participants scored higher than 60 points, out of 100 points. The average score of total knowledge of participants about transfusion medicine was 52±10. The total knowledge scores of groups including internal departments, surgical departments, and emergency medicine were 55.7±10.2, 51.5±8.3, and 46±10.3, respectively and the differences between three groups were significant (p=0.001) . Also, a positive correlation has been shown between age, experience in medicine and total awareness score in transfusion medicine. The study yielded low/moderate levels of knowledge about transfusion medicine and it was concluded that additional education in transfusion medicine is necessary in all specialties and at each phases of medical practice.


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Relationship between thyrotropin and BMI in patients with subclinical hypothyroidism

2016-10-31T04-18-55Z
Source: Medicine Science | International Medical Journal
Manuel Iván Hernández-Estala, Ana Marlend Rivas-Gómez, Gabriela María Loya-Gómez, Eliseo López-Hernández.
Subclinical hypothyroidism is an asymptomatic illness characterized by elevated serum thyrotropin and normal values of thyroid hormones. Currently, epidemiological studies have suggested a positive relationship between serum thyrotropin and body mass index, although the primary source of this relationship is unknown. The aim of this study was to determine whether serum thyrotropin concentrations are associated with body mass index in patients with subclinical hypothyroidism. This is an observational, cross-sectional and analytical study, carried out in the Mexican Social Security Institutes General Hospital No. 1 in Chihuahua. Weight, height, concentrations of serum thyrotropin, age, sex and smoking status data were collected from the clinical records of 128 patients diagnosed with subclinical hypothyroidism. We found that in higher categories of BMI we found higher means of serum thyrotropin: 5.92 μIU/mL for normal BMIs, 6.14 μIU/mL for overweight, 6.41 μIU/mL for obesity class I, and 7.03 μIU/mL for obesity classes II and II, P for trend


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RESPONSE OF BROILER CHICKEN TO PARBOILED MANGO SEED KERNEL MEAL (PMKM) BASED DIET FORTIFIED WITH VITAMINS

2016-10-31T03-04-29Z
Source: International Journal of Livestock Research
Rafiu T Adewale, Odunsi A Adeyinka, Akinwumi O Akinyinka, Olakanlo O Damilola, Anwo O Joseph.
This study was carried out to investigate effect of vitamins supplementation of PMKM based diet on performance, organ and carcass properties of broiler birds. Five diets (T1; the control, T3-T5 contained 20% PMKM and vitamin(s) C &/or E) were formulated and 150 birds were used for the experiment. Feed and water were supplied ad-libitum. Weekly weight was monitored, while organs and carcass cut parts were obtained and evaluated at eight weeks. Final weight, average daily weight gain and feed conversion ratio (FCR) of control was significantly better than PMKM based diets, likewise breast meat (17.18). Highest proportion (p


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Visceral to subcutaneous fat ratio predicts acuity of diverticulitis

Surgical Endoscopy

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Network meta-analysis of first- and second-generation protease inhibitors for chronic hepatitis C genotype 1: efficacy based on RVR and SVR 24

European Journal of Clinical Pharmacology

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All-oral direct-acting antiviral therapy in HCV-advanced liver disease is effective in real-world practice: Observations through HCV-TARGET database

Alimentary Pharmacology and Therapeutics

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Cancer Survivor Study (CASUS) on colorectal patients: Longitudinal study on physical activity, fitness, nutrition, and its influences on quality of life, disease recurrence, and survival. Rationale and design

International Journal of Colorectal Disease

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Preoperative glycosylated hemoglobin levels predict anastomotic leak after esophagectomy with cervical esophagogastric anastomosis

World Journal of Surgery

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Impact of IFNL4 rs12979860 and rs8099917 polymorphisms on response to Peg-Interferon- and Ribavirin in patients with congenital bleeding disorder and chronic hepatitis C

Journal of Clinical Laboratory Analysis

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Early detection of nonperitoneal recurrence may contribute to survival benefit after curative gastrectomy for gastric cancer

Gastric Cancer

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Treatment of hepatitis E virus

Current Opinion in Infectious Diseases

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Rates of secondary hyperparathyroidism after bypass operation for super-morbid obesity: An overlooked phenomenon

Surgery

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Magnetic resonance elastography vs transient elastography in detection of fibrosis and noninvasive measurement of steatosis in patients with biopsy-proven nonalcoholic fatty liver disease

Gastroenterology

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Over 1 million treated with highly effective hepatitis C medicines

WHO news

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Strain elastography for assessment of liver fibrosis and prognosis in patients with chronic liver diseases

Journal of Gastroenterology

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The impact of irritable bowel syndrome on daily functioning: Characterizing and understanding daily consequences of IBS

Neurogastroenterology & Motility

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Elevated serum carcinoembryonic antigen is associated with a worse survival outcome of patients after liver resection for hepatocellular carcinoma: A propensity score matching analysis

Journal of Gastrointestinal Surgery

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Robotic versus laparoscopic left lateral sectionectomy of liver

Surgical Endoscopy

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Addition of Lubiprostone to polyethylene glycol(PEG) enhances the quality & efficacy of colonoscopy preparation: A randomized, double-blind, placebo controlled trial

BMC Gastroenterology

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Neoadjuvant therapy versus upfront surgery for resected pancreatic adenocarcinoma: A nationwide propensity score matched analysis

Surgery

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Risk factors for postoperative delirium after colorectal operation

Surgery

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Do hospital factors impact readmissions and mortality after colorectal resections at minority-serving hospitals?

Surgery

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Preoperative chemoradiotherapy might improve the prognosis of patients with locally advanced low rectal cancer and lateral pelvic lymph node metastases

World Journal of Surgery

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A network-biology perspective of microRNA function and dysfunction in cancer

Nature Reviews Genetics. doi:10.1038/nrg.2016.134

Authors: Cameron P. Bracken, Hamish S. Scott & Gregory J. Goodall



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Non-coding RNA: Deciphering the rules of microRNA targeting

Nature Reviews Genetics. doi:10.1038/nrg.2016.148

Author: Ross Cloney



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Loss-of-function genetic tools for animal models: cross-species and cross-platform differences

Nature Reviews Genetics. doi:10.1038/nrg.2016.118

Authors: Benjamin E. Housden, Matthias Muhar, Matthew Gemberling, Charles A. Gersbach, Didier Y. R. Stainier, Geraldine Seydoux, Stephanie E. Mohr, Johannes Zuber & Norbert Perrimon



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Organization and function of the 3D genome

Nature Reviews Genetics. doi:10.1038/nrg.2016.147

Author: Boyan Bonev & Giacomo Cavalli



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Genomics: Mapping meiotic breaks

Nature Reviews Genetics. doi:10.1038/nrg.2016.146

Author: Ross Cloney



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Κυριακή, 30 Οκτωβρίου 2016

Genomics: Mapping meiotic breaks



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Loss-of-function genetic tools for animal models: cross-species and cross-platform differences

Loss-of-function (LOF) approaches are powerful experimental tools for characterizing gene functions. However, emerging discrepancies when genes are investigated using different tools or organisms has triggered debate about how such LOF results should be biologically interpreted. In this Review, experts from varied fields discuss how understanding the underlying features of each LOF approach can provide explanations for different experimental outcomes and can guide their optimal and reliable application.

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Non-coding RNA: Deciphering the rules of microRNA targeting



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A network-biology perspective of microRNA function and dysfunction in cancer

MicroRNAs (miRNAs) have emerged as crucial components of gene-regulatory networks, in which they act alone or cooperatively to regulate gene expression. Here, the authors provide a systems-biological view of miRNA function and how disruption of miRNA networks can lead to malignancy.

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Organization and function of the 3D genome



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Robotic quantification of upper extremity loss of independent joint control or flexion synergy in individuals with hemiparetic stroke: a review of paradigms addressing the effects of shoulder abduction loading

Unsupported or "against-gravity" reaching and hand opening movements are greatly impaired in individuals with hemiparetic stroke. The reduction in reaching excursion and hand opening is thought to be primarily...

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Σάββατο, 29 Οκτωβρίου 2016

The Results of Single Bundle Versus Double Bundle ACL Reconstruction Surgery, a Retrospective Study and Review of Literature

2016-10-29T18-46-28Z
Source: Medical Archives
Ali Torkaman, Hamidreza Yazdi, Mohammad Ghorban Hosseini.
Objective: The purpose of this study was to evaluate the results of single bundle and double bundle surgical techniques for anterior cruciate ligament (ACL) reconstruction. Methods: In this study, all single bundle and double bundle ACL reconstruction surgeries that were done in our university hospital from January 2008 to December 2012 were enrolled. All patients were followed at 2,6,12, 24 weeks and 1 a 2 years post operatively. On last follow up all patients were evaluated by clinical examination, KT-1000 and Lysholm questionnaire. Results: Seventy five patients were operated using single bundle and eighty five patients with double bundle technique. Fifty seven percent of patients in single bundle and 80% of patients in double bundle group had experienced pain during follow-up period. None of cases had knee extension or flexion loss. The average side to side differences using KT-1000 was 3.5 ± 0.38 (2.9-4.1) millimeters in single bundle group and 3.39 ± 0.39 (2.8-4) millimeters in double bundle group. These results showed no significant difference between two groups (P= 0.31). Lysholm score improved significantly in both groups, but there was no significant difference between them. Conclusion: According to this study the clinical results of single bundle ACL reconstruction was similar to double bundle reconstruction in short term follow up. Further studies are needed to evaluate the long term results.


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Association of Beta-2 Microglobulin with Inflammation and Dislipidemia in High-Flux Membrane Hemodialysis Patients

2016-10-29T18-46-28Z
Source: Medical Archives
Valdete TopçiuShufta, Ramë Miftari, Valdete Haxhibeqiri, Shpend Haxhibeqiri.
Background: Higher than expected cardiovascular mortality in hemodialysis patients, has been attributed to dyslipidemia as well as inflammation. Beta2-Microglobulin (β2M) is an independent predictor of outcome for hemodialysis patients and a representative substance of middle molecules. Results: In 40 patients in high-flux membrane hemodialysis, we found negative correlation of β2M with high density lipoprotein (r=-0.73, p


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Distinguishing spinocerebellar ataxia with pure cerebellar manifestation from multiple system atrophy (MSA-C) through saccade profiles

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Publication date: Available online 29 October 2016
Source:Clinical Neurophysiology
Author(s): Yasuo Terao, Hideki Fukuda, Shin-ichi Tokushige, Satomi Inomata-Terada, Akihiro Yugeta, Masashi Hamada, Yoshikazu Ugawa
ObjectivePatients with spinocerebellar ataxia with pure cerebellar presentation (SCD) and multiple system atrophy (MSA-C) show similar symptoms at early stages, although cerebellofugal pathology predominates in SCD, and cerebellopetal pathology in MSA-C. We studied whether saccade velocity profiles, which reflect the accelerating and braking functions of the cerebellum, can differentiate these two disorders.MethodsWe recorded visually guided (VGS) and memory guided saccades (MGS) in 29 MSA-C patients, 12 SCD patients, and 92 age-matched normal subjects, and compared their amplitude, peak velocity and duration (accelerating and decelerating phases).ResultsHypometria predominated in VGS and MGS of MSA-C, whereas hypometria was less marked in SCD, with hypermetria frequently noted in MGS. Peak velocity was reduced, and deteriorated with advancing disease both in SCD and MSA-C groups at smaller target eccentricities. The deceleration phase was prolonged in SCD compared to MSA-C and normal groups at larger target eccentricities, which deteriorated with advancing disease.ConclusionSaccades in MSA-C were characterized by a more prominent acceleration deficit and those in SCD by a more prominent braking defect, possibly caused by the cerebellopetal and cerebellofugal pathologies, respectively.SignificanceSaccade profiles provide important information regarding the accelerating and braking signals of the cerebellum in spinocerebellar ataxia.



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Pathological and Physiological Muscle Co-activation during Active Elbow Extension in Children with Unilateral Cerebral Palsy

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Publication date: Available online 29 October 2016
Source:Clinical Neurophysiology
Author(s): A. Sarcher, M. Raison, F. Leboeuf, B. Perrouin-Verbe, S. Brochard, R. Gross
[Objective]To address the roles and mechanisms of co-activation in two flexor/extensor pairs during elbow extension in children with cerebral palsy (CP).[Methods]13 typically developing (TD) and 13 children with unilateral spastic CP performed elbow extension/flexion at different speeds. Elbow angle and velocity were recorded using a 3D motion analysis system. The acceleration and deceleration phases of extension were analyzed. Co-activation of the brachioradialis/triceps and biceps/triceps pairs was computed for each phase from surface electromyographic signals. Statistical analysis involved linear mixed effects models and Spearman rank correlations.[Results]During the acceleration phase, there was strong co-activation in both muscle pairs in the children with CP, which increased with speed. Co-activation was weak in the TD children and it was not speed-dependent. During the deceleration phase, co-activation was strong and increased with speed in both groups; co-activation of brachioradialis/triceps was stronger in children with CP, and was negatively correlated with extension range and positively correlated with flexor spasticity.[Conclusions]Abnormal patterns of co-activation in children with CP were found throughout the entire movement. Co-activation was specific to the movement phase and to each flexor muscle.[Significance]Co-activation in children with CP is both physiological and pathological.



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Frequency-independent characteristics of high-frequency oscillations in epileptic and non-epileptic regions

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Publication date: Available online 29 October 2016
Source:Clinical Neurophysiology
Author(s): Martin Pail, Pavel Řehulka, Jan Cimbálník, Irena Doležalová, Jan Chrastina, Milan Brázdil
ObjectiveThe purpose of the presented study is to determine whether there are frequency-independent high-frequency oscillation (HFO) parameters which may differ in epileptic and non-epileptic regions.MethodsWe studied 31 consecutive patients with medically intractable focal (temporal and extratemporal) epilepsies who were examined by either intracerebral or subdural electrodes. Automated detection was used to detect HFO. The characteristics (rate, amplitude, and duration) of HFO were statistically compared within three groups: the seizure onset zone (SOZ), the irritative zone (IZ), and areas outside the IZ and SOZ (nonSOZ/nonIZ).ResultsIn all patients, fast ripples (FR) and ripples (R) were significantly more frequent and shorter in the SOZ than in the nonSOZ/nonIZ region. In the group of patients with favorable surgical outcomes, the relative amplitude of FR was higher in the SOZ than in the IZ and nonIZ/nonSOZ regions; in patients with poor outcomes, the results were reversed. The relative amplitude of R was significantly higher in the SOZ, with no difference between patients with poor and favorable surgical outcomes.ConclusionsFR are more frequent, shorter, and have higher relative amplitudes in the SOZ area than in other regions. The study suggests a worse prognosis in patients with higher amplitudes of FR outside the SOZ.SignificanceVarious HFO parameters, especially of FR, differ in epileptic and non-epileptic regions. The amplitude and duration may be as important as the frequency band and rate of HFO in marking the seizure onset region or the epileptogenic area and may provide additional information on epileptogenicity.



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Evidence-based guidelines on the therapeutic use of transcranial direct current stimulation (tDCS)

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Publication date: Available online 29 October 2016
Source:Clinical Neurophysiology
Author(s): Jean-Pascal Lefaucheur, Andrea Antal, Samar S. Ayache, David H. Benninger, Jérôme Brunelin, Filippo Cogiamanian, Maria Cotelli, Dirk De Ridder, Roberta Ferrucci, Berthold Langguth, Paola Marangolo, Veit Mylius, Michael A. Nitsche, Frank Padberg, Ulrich Palm, Emmanuel Poulet, Alberto Priori, Simone Rossi, Martin Schecklmann, Sven Vanneste, Ulf Ziemann, Luis Garcia-Larrea, Walter Paulus
A group of European experts was commissioned by the European Chapter of the International Federation of Clinical Neurophysiology to gather knowledge about the state of the art of the therapeutic use of transcranial direct current stimulation (tDCS) from studies published up until September 2016, regarding pain, Parkinson's disease, other movement disorders, motor stroke, poststroke aphasia, multiple sclerosis, epilepsy, consciousness disorders, Alzheimer's disease, tinnitus, depression, schizophrenia, and craving/addiction. The evidence-based analysis included only studies based on repeated tDCS sessions with sham tDCS control procedure; 25 patients or more having received active treatment was required for Class I, while a lower number of 10-24 patients was accepted for Class II studies. Current evidence does not allow making any recommendation of Level A (definite efficacy) for any indication. Level B recommendation (probable efficacy) is proposed for: (i) anodal tDCS of the left primary motor cortex (M1) (with right orbitofrontal cathode) in fibromyalgia; (ii) anodal tDCS of the left dorsolateral prefrontal cortex (DLPFC) (with right orbitofrontal cathode) in major depressive episode without drug resistance; (iii) anodal tDCS of the right DLPFC (with left DLPFC cathode) in addiction/craving. Level C recommendation (possible efficacy) is proposed for anodal tDCS of the left M1 (or contralateral to pain side, with right orbitofrontal cathode) in chronic lower limb neuropathic pain secondary to spinal cord lesion. Conversely, Level B recommendation (probable inefficacy) is conferred on the absence of clinical effects of: (i) anodal tDCS of the left temporal cortex (with right orbitofrontal cathode) in tinnitus; (ii) anodal tDCS of the left DLPFC (with right orbitofrontal cathode) in drug-resistant major depressive episode. It remains to be clarified whether the probable or possible therapeutic effects of tDCS are clinically meaningful and how to optimally perform tDCS in a therapeutic setting. In addition, the easy management and low cost of tDCS devices allow at home use by the patient, but this might raise ethical and legal concerns with regard to potential misuse or overuse. We must be careful to avoid inappropriate applications of this technique by ensuring rigorous training of the professionals and education of the patients.



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Psychophysiological relationships between a multi-component self-report measure of mood, stress and behavioural signs and symptoms, and physiological stress responses during a simulated firefighting deployment

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Publication date: Available online 29 October 2016
Source:International Journal of Psychophysiology
Author(s): Alexander Wolkow, Brad Aisbett, Sally A Ferguson, John Reynolds, Luana C Main
Physical work and sleep loss are wildland firefighting demands that elicit psychological and physiological stress responses. Research shows that these responses are statistically related which presents an opportunity to use subjective psychological questionnaires to monitor physiological changes among firefighters; an approach used extensively in sport settings. The aim of the present study was to investigate if changes in self-reported psychological factors on the multi-component training distress scale (MTDS), relate to cytokines and cortisol levels among firefighters completing three days of simulated physical firefighting work separated by an 8-h or restricted 4-h sleep each night. Each day firefighters completed the MTDS in the morning and salivary cortisol and inflammatory cytokines were measured throughout the day. When sleep restricted, firefighters demonstrated increases in MTDS factors of general fatigue, perceived stress and depressed mood that were related to elevated cytokines (TNF-α, IL-8, IL-10, IL-6) and cortisol. Conversely, firefighters who had an 8-h sleep demonstrated a positive relationship between physical signs and symptoms and elevated IL-6, while depressed mood was inversely related to decreasing cortisol and cytokines (IL-6, TNF-α, IL-10). Findings highlight the utility of the MTDS to detect psychological changes that reflect physiological responses among firefighters. Future research that establishes thresholds for specific factors which predict health-related physiological changes, will allow fire agencies implement multi-component measures to monitor and manage the health of personnel on the fire-ground.



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Imaging of Paranasal Sinuses and Anterior Skull Base and Relevant Anatomic Variations

Publication date: Available online 25 October 2016
Source:Radiologic Clinics of North America
Author(s): Estushi Iida, Yoshimi Anzai

Teaser

This article reviews the normal anatomy and variants of the anterior skull base and sinonasal cavities that are relevant to endoscopic sinus and skull base surgery. Radiologists should be aware of sinonasal anatomy that can be impediments to surgical access and increase risk of vascular or cranial nerve injury during surgery. Imaging features of the paranasal sinuses and anterior skull base pathologies are also discussed.


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Imaging Evaluation and Treatment of Vascular Lesions at the Skull Base

Publication date: Available online 25 October 2016
Source:Radiologic Clinics of North America
Author(s): Gaurav Jindal, Timothy Miller, Prashant Raghavan, Dheeraj Gandhi

Teaser

A wide range of congenital and acquired vascular entities may occur in the skull base. Although some are diagnosed incidentally and merit no treatment, others may require surgical or image-guided endovascular or percutaneous approaches for management. The complex anatomy of the skull base can make diagnosis challenging. A combination of computed tomography scans and MR imaging, and catheter angiography may be required for diagnosis and mapping. Endovascular treatment plays an important part in many of the acquired vascular lesions, such as vascular neoplasms and traumatic dissections/aneurysms. Endovascular treatment is generally considered the gold standard for the treatment of vascular shunts at the skull base.


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Advanced Imaging Techniques of the Skull Base

Publication date: Available online 21 October 2016
Source:Radiologic Clinics of North America
Author(s): Elliot Dickerson, Ashok Srinivasan

Teaser

Although conventional imaging can depict the anatomy of the head and neck with exquisite detail, it often falls short in its ability to characterize tissue physiology and abnormality; this is especially seen in the posttherapy setting where benign posttreatment changes and recurrent tumors can show intense postcontrast enhancement and similar features on conventional imaging. Advanced imaging can evaluate tissue physiology and, along with conventional imaging, provide a more accurate assessment of the skull base. This article describes the technical details and clinical applications of different advanced imaging techniques with a primary focus on diffusion-weighted imaging.


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Genitourinary Imaging: An Update

Publication date: Available online 20 October 2016
Source:Radiologic Clinics of North America
Author(s): Andrew B. Rosenkrantz




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Comparing performance of Bonfils fiberscope and GlideScope videolaryngoscope for awake intubation

The recent article by Nassar et al [1] comparing performance of Bonfils fiberscope and GlideScope videolaryngoscope for awake intubation in the morbidly obese patients with expected difficult airways was of great interest to us. They showed that Bonfils fiberscope was more tolerated by patients with statistical difference, whereas GlideScope videolaryngoscope provided shorter intubation time and less intubation attempts but without statistical significance. Given that the airway management of morbidly obese patients often presents a unique challenge to the anesthesiologists, their findings have potential implications.

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Sudden cardiorespiratory collapse associated with Takotsubo cardiomyopathy upon transferring a patient to the operation bed

Here, we report a case of cardiopulmonary collapse associated with Takotsubo cardiomyopathy after moving a patient to the operation bed.

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Rapid-sequence intubation of a patient with difficult airway using a double-lumen endotracheal tube with the Pentax-AWS Airwayscope and a soft-tipped tube exchanger

Rapid-sequence intubation of a double-lumen tube is difficult, especially in patients with difficult airway [1]. Here we report successful rapid-sequence intubation of a patient with difficult airway using a double-lumen endotracheal tube (DLT) with the Pentax-AWS Airwayscope (AWS) (HOYA, Tokyo, Japan) videolaryngoscope equipped with a newly developed Intlock for DLT (ITL-LL) (HOYA), combined with a soft-tipped tube exchange catheter (TE-Soft) (Cook Medical, IN, USA).

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NF-Y and the immune response: Dissecting the complex regulation of MHC genes

Publication date: Available online 29 October 2016
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): Nikoleta Sachini, Joseph Papamatheakis
Nuclear Factor Y (NF-Y) was first described as one of the CCAAT binding factors. Although CCAAT motifs were found to be present in various genes, NF-Y attracted a lot of interest early on, due to its role in Major Histocompatibility Complex (MHC) gene regulation. MHC genes are crucial in immune response and show peculiar expression patterns. Among other conserved elements on MHC promoters, an NF-Y binding CCAAT box was found to contribute to MHC transcriptional regulation. NF-Y along with other DNA binding factors assembles in a stereospecific manner to form a multiprotein scaffold, the MHC enhanceosome, which is necessary but not sufficient to drive transcription. Transcriptional activation is achieved by the recruitment of yet another factor, the class II transcriptional activator (CIITA). In this review, we briefly discuss basic findings on MHCII transcription regulation and we highlight NF-Y different modes of function in MHCII gene activation.



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The multifaceted roles of NUCLEAR FACTOR-Y in Arabidopsis thaliana development and stress responses

Publication date: Available online 29 October 2016
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): Swadhin Swain, Zachary A. Myers, Chamindika L. Siriwardana, Ben F. Holt
NUCLEAR FACTOR-Y (NF-Y) is a heterotrimeric transcription factor (TF) consisting of evolutionarily distinct NF-YA, NF-YB and NF-YC subunits. The functional NF-Y heterotrimer binds to CCAAT elements in eukaryotic gene promoters and influences their expression. The genome of the model organism Arabidopsis thaliana encodes 10 distinct NF-YA, NF-YB, and NF-YC proteins, allowing for enormous combinatorial and functional diversity. Two decades of research have elucidated the importance of NF-Ys in plant growth, development and stress responses; however, the molecular mechanisms of action remain largely unexplored. Intriguingly, recent evidence suggests that NF-Ys are frequently associated with other groups of TFs, expanding the potential NF-Y combinatorial complexity. Further, information regarding the regulation of individual NF-Y subunits at the transcriptional and post-transcriptional level is beginning to emerge. In this review, we will identify developing trends within the NF-Y field and discuss recent progress towards a better understanding of NF-Y function, molecular action, and regulation in the context of Arabidopsis.



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Thirty years of the HAP2/3/4/5 complex

Publication date: Available online 28 October 2016
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): M. Bolotin-Fukuhara




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Transcription factors that influence RNA polymerases I and II: To what extent is mechanism of action conserved?

Publication date: Available online 27 October 2016
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): Yinfeng Zhang, Saman M. Najmi, David A. Schneider
In eukaryotic cells, nuclear RNA synthesis is accomplished by at least three unique, multisubunit RNA polymerases. The roles of these enzymes are generally partitioned into the synthesis of the three major classes of RNA: rRNA, mRNA, and tRNA for RNA polymerases I, II, and III respectively. Consistent with their unique cellular roles, each enzyme has a complement of specialized transcription factors and enzymatic properties. However, not all transcription factors have evolved to affect only one eukaryotic RNA polymerase. In fact, many factors have been shown to influence the activities of multiple nuclear RNA polymerases. This review focuses on a subset of these factors, specifically addressing the mechanisms by which these proteins influence RNA polymerases I and II.



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Y flowering? Regulation and activity of CONSTANS and CCT-domain proteins in Arabidopsis and crop species

Publication date: Available online 26 October 2016
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): Vittoria Brambilla, Fabio Fornara
Changes in day length regulate the proper timing of flowering in several plant species. The genetic architecture of this process is based on CCT-domain proteins, many of which interact with NF-Y subunits to regulate transcription of target genes. In the model plant Arabidopsis thaliana, the CONSTANS CCT-domain protein is a central photoperiodic sensor. We will discuss how the diurnal rhythms of its transcription and protein accumulation are generated, and how the protein engages into multiple complexes to control production of a systemic flowering signal. Regulatory parallels will be drawn between Arabidopsis and major crops that indicate conservation of some CCT/NF-Y modules during plant evolution.



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NF-Y in invertebrates

Publication date: Available online 26 October 2016
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): Masamitsu Yamaguchi, Md. Saheb Ali, Yasuhide Yoshioka, Luong Linh Ly, Hideki Yoshida
Both Drosophila melanogaster and Caenorhabditis elegans (C. elegans) are useful model organisms to study in vivo roles of NF-Y during development. Drosophila NF-Y (dNF-Y) consists of three subunits dNF-YA, dNF-YB and dNF-YC. In some tissues, dNF-YC-related protein Mes4 may replace dNF-YC in dNF-Y complex. Studies with eye imaginal disc-specific dNF-Y-knockdown flies revealed that dNF-Y positively regulates the sevenless gene encoding a receptor tyrosine kinase, a component of the ERK pathway and negatively regulates the Sensless gene encoding a transcription factor to ensure proper development of R7 photoreceptor cells together with proper R7 axon targeting. dNF-Y also controls the Drosophila Bcl-2 (debcl) to regulate apoptosis. In thorax development, dNF-Y is necessary for both proper Drosophila JNK (basket) expression and JNK signaling activity that is responsible for thorax development. Drosophila p53 gene was also identified as one of the dNF-Y target genes in this system. C. elegans contains two forms of NF-YA subunit, CeNF-YA1 and CeNF-YA2. C. elegans NF-Y (CeNF-Y) therefore consists of CeNF-YB, CeNF-YC and either CeNF-YA1 or CeNF-YA2. CeNF-Y negatively regulates expression of the Hox gene egl-5 (ortholog of Drosophila Abdominal-B) that is involved in tail patterning. CeNF-Y also negatively regulates expression of the tbx-2 gene that is essential for development of the pharyngeal muscles, specification of neural cell fate and adaptation in olfactory neurons. Negative regulation of the expression of egl-5 and tbx-2 by CeNF-Y provides new insight into the physiological meaning of negative regulation of gene expression by NF-Y during development. In addition, studies on NF-Y in platyhelminths are also summarized.



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Modulation of topoisomerase IIα expression and chemosensitivity through targeted inhibition of NF-Y:DNA binding by a diamino p-anisyl-benzimidazole (Hx) polyamide

Publication date: Available online 24 October 2016
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): Luke Pett, Konstantinos Kiakos, Vijay Satam, Pravin Patil, Sarah Laughlin-Toth, Matthew Gregory, Michael Bowerman, Kevin Olson, Mia Savagian, Megan Lee, Moses Lee, W. David Wilson, Daniel Hochhauser, John A. Hartley
BackgroundSequence specific polyamide HxIP 1, targeted to the inverted CCAAT Box 2 (ICB2) on the topoisomerase IIα (topo IIα) promoter can inhibit NF-Y binding, re-induce gene expression and increase sensitivity to etoposide. To enhance biological activity, diamino-containing derivatives (HxI*P 2 and HxIP* 3) were synthesised incorporating an alkyl amino group at the N1-heterocyclic position of the imidazole/pyrrole.MethodsDNase I footprinting was used to evaluate DNA binding of the diamino Hx-polyamides, and their ability to disrupt the NF-Y:ICB2 interaction assessed using EMSAs. Topo IIα mRNA (RT-PCR) and protein (Immunoblotting) levels were measured following 18h polyamide treatment of confluent A549 cells. γH2AX was used as a marker for etoposide-induced DNA damage after pre-treatment with HxIP* 3 and cell viability was measured using Cell-Titer Glo®.ResultsIntroduction of the N1-alkyl amino group reduced selectivity for the target sequence 5′-TACGAT-3′ on the topo IIα promoter, but increased DNA binding affinity. Confocal microscopy revealed both fluorescent diamino polyamides localised in the nucleus, yet HxI*P 2 was unable to disrupt the NF-Y:ICB2 interaction and showed no effect against the downregulation of topo IIα. In contrast, inhibition of NF-Y binding by HxIP* 3 stimulated dose-dependent (0.1–2μM) re-induction of topo IIα and potentiated cytotoxicity of topo II poisons by enhancing DNA damage.ConclusionsPolyamide functionalisation at the N1-position offers a design strategy to improve drug-like properties. Dicationic HxIP* 3 increased topo IIα expression and chemosensitivity to topo II-targeting agents.General significancePharmacological modulation of topo IIα expression has the potential to enhance cellular sensitivity to clinically-used anticancer therapeutics. This article is part of a Special Issue entitled: Nuclear Factor Y in Development and Disease, edited by Prof. Roberto Mantovani.

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Genome wide features, distribution and correlations of NF-Y binding sites

Publication date: Available online 18 October 2016
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): Federico Zambelli, Giulio Pavesi
NF-Y is a trimeric transcription factor that binds on DNA the CCAAT-box motif. In this article we reviewed and complemented with additional bioinformatic analysis existing data on genome-wide NF-Y binding characterization in human, reaching the following main conclusions: (1) about half of NF-Y binding sites are located at promoters, about 60–80 base pairs from transcription start sites; NF-Y binding to distal genomic regions takes place at inactive chromatin loci and/or DNA repetitive elements more often than active enhancers; (2) on almost half of its binding sites, regardless of their genomic localization (promoters or distal regions), NF-Y finds on DNA more than one CCAAT-box, and most of those multiple CCAAT binding loci present precise spacing and organization of the elements composing them; (3) there exists a well defined class of transcription factors that show genome-wide co-localization with NF-Y. Some of them lack their canonical binding site in binding regions overlapping with NF-Y, hence hinting at NF-Y mediated recruitment, while others show a precise positioning on DNA of their binding sites with respect to the CCAAT box bound by NF-Y. This article is part of a Special Issue entitled: Nuclear Factor Y in Development and Disease, edited by Prof. Roberto Mantovani.



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Arsenic induced squamous cell carcinoma of skin – atypical presentation with aggressiveness.

2016-10-29T04-45-55Z
Source: The Southeast Asian Journal of Case Report and Review
Santu Mondal, Soumita Poddar, Mridul Kanti Biswas.
A 68 year old gentleman from arsenic affected area presented with an ulceration at skin at the junction of neck and thorax (left side) and a lump at left upper neck. On examination, ulcer was 3×3 cm. In size. There was an enlarged lymph node at level I I cervical region. There were hyperkeratoses and hyperpigmentation at multiple site. Patient had lost one finger at left upper extremity. Biopsy and histopathological examination from the ulcer revealed squamous cell carcinoma. CT scan of whole abdomen showed multiple hypodence space occupying lesion in liver, consistent with metastasis. Patient was treated with chemotherapy with palliative intent. This case has atypical presentation with aggressiveness in behaviour. The case is described along with a review of literature.


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Retrogastric cyst due to perforated appendix

2016-10-29T04-45-55Z
Source: The Southeast Asian Journal of Case Report and Review
Digamber Chaubey, Anand Pandey, Archika Gupta, Shiv Narain Kureel.
Appendicitis is the most common abdominal emergency. The lifetime risk of having appendicitis is 8.6% for males and 6.7% for females; while the lifetime risk of appendicectomy is 12.0% for males and 23.1% for females. A very important complication of this entity is appendicular perforation. We treated a patient of appendicular perforation with extremely uncommon manifestation- retrogastric cyst leading to gastric outlet obstruction.


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Membranous Nephropathy With Transverse Myelitis

2016-10-29T04-45-55Z
Source: The Southeast Asian Journal of Case Report and Review
Mudasir Mushtaq, Maqbool Wani, Mushtaq Ahmed Wani, Rouf Asimi, Sawan Verma, Irfan Shah.
MGN is the most common form of glomerulonephritis causing nephritic syndrome in adults. Cases have been reported depicting association between MGN and neurological diseases like guillain-barre syndrome, multiple sclerosis and chronic inflammatory demyelinating polyneuropathy . However only one case has been reported with MGN and inflammatory myelopathy. Our patient was 36 yrs old female admitted with paraparesis and paresthesias in bilateral hands with bowel and bladder involvement and she had a biopsy documented episode of membranous nephropathy.


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Extracorporeal lung support.

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Purpose of review: The applications for extracorporeal membrane oxygenation for lung support are constantly evolving. This review highlights fundamental concepts in extracorporeal lung support and describes directions for future research. Recent findings: Since the 1950s, extracorporeal lung support has experienced continuous advancements in circuit design and safety in acute respiratory distress syndrome, chronic obstructive pulmonary disease exacerbations, as a bridge to transplantation, intraoperative cardiopulmonary support, and for transportation to referral centers. Patients on extracorporeal membrane oxygenation are now capable of being awake, extubated, and ambulatory for accelerated recovery or optimization for transplantation. Summary: Extracorporeal lung support is a safe and an easily implemented intervention for refractory respiratory failure. Recent advances have extended its use beyond acute illnesses and the developments for chronic support will facilitate the development of durable devices and possible artificial lung development. Copyright (C) 2016 YEAR Wolters Kluwer Health, Inc. All rights reserved.

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Obesity hypoventilation syndrome, sleep apnea, overlap syndrome: perioperative management to prevent complications.

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Purpose of review: The prevalence of sleep disordered breathing (SDB) is increasing proportional to the prevalence of obesity. Although anesthesiologists are familiar with obstructive sleep apnea (OSA) - the most common SDB, anesthesiologists may not be aware of other SDB such as obesity hypoventilation syndrome (OHS) and overlap syndrome (combination of OSA and chronic obstructive pulmonary disease). The present review provides an update of information regarding the perioperative management of OHS and overlap syndrome. Recent findings: OHS and overlap syndrome are associated with significant comorbid conditions and more perioperative morbidity than OSA alone. Similar to OSA, most of the OHS patients are undiagnosed. An increase in serum bicarbonate level is a surrogate marker of hypercapnia. Because 90% of OHS patients have OSA, preoperative screening for OSA combined with estimation of serum bicarbonate level may detect the majority of the patients with OHS. In patients with OSA, OHS, and overlap syndrome, improvement in the perioperative outcome has been shown by initiating positive airway pressure therapy. Summary: Identification and preoperative optimization of these high-risk patients are most important. A protocol-based risk mitigation is necessary for improving the intraoperative and postoperative outcome of these patients. As a perioperative physician, anesthesiologists have a key role in the management of patients with SDB. Copyright (C) 2016 YEAR Wolters Kluwer Health, Inc. All rights reserved.

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Sleep, sleep studies and sleep-disordered breathing: basic knowledge for the anesthesiologist.

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Purpose of review: To provide a basic understanding of sleep physiology, the pathophysiology of sleep-disordered breathing and the processes applied in undertaking and assessing sleep studies. Recent findings: It has become increasingly apparent that obstructive sleep apnoea is associated with heightened perioperative risk. Furthermore, the condition still remains under-diagnosed in patients presenting for surgery. Summary: This review describes the physiology of sleep including sleep stages, sleep monitoring, the normal hypnogram and investigation from simple overnight pulse oximetry to full polysomnography. The pathophysiology of sleep-disordered breathing is discussed; from simple snoring through obstructive sleep apnoea to obesity hypoventilation syndrome. The relationship to metabolic syndrome is explored. Salient points in the interpretation of sleep study reports are presented. Copyright (C) 2016 YEAR Wolters Kluwer Health, Inc. All rights reserved.

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Παρασκευή, 28 Οκτωβρίου 2016

Creation of an injectable in situ gelling native extracellular matrix for nucleus pulposus tissue engineering

Disc degeneration is the leading cause of low back pain and is often characterized by a loss of disc height, resulting from cleavage of chondroitin sulfate proteoglycans (CSPGs) present in the nucleus pulposus. Intact CSPGs are critical to water retention and maintenance of the nucleus osmotic pressure. Decellularization of healthy nucleus pulposus tissue has the potential to serve as an ideal matrix for tissue engineering of the disc because of the presence of native disc proteins and CSPGs. Injectable in situ gelling matrices are the most viable therapeutic option to prevent damage to the anulus fibrosus and future disc degeneration.

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Why EMS needs more protection on roadway incidents

Roadways are the most dangerous scene types for EMS providers and require increased safety measures from hazardous exposure to minimize death and serious injury of public safety personnel.

We regularly share news stories of fire apparatus struck while attending a motor vehicle collision, EMS providers struck while tending to a patient and police officers killed after stopping a speeding driver or checking on a disabled vehicle.

In late October, a medical helicopter was struck and tipped over in New Mexico by an intoxicated driver who drove around barricades meant to block traffic. The reckless driver also hit a fire truck. No injuries were reported, but we don't know the impact of the transport delay on the patient's outcome. We also don't know the potential impact of traumatic stress on the EMS and fire personnel who were in the midst of caring for a patient when a out-of-control vehicle plowed into their scene.

Six months ago, nearly to the day, another medical helicopter was struck by a drunk driver who swerved through emergency vehicles before striking the helicopter's tail rotor. The impact of this central Florida incident on the patient's outcome, as well as the emergency responders, is unknown.

Because of the frequency with which emergency personnel, vehicles and now helicopters are struck, we need to accept that erecting barricades, parking a couple of blocking vehicles, waving orange flags or setting-up temporary signs is inadequate scene protection. High-visibility apparel looks great, but if the fire truck and flashing lights don't get a drunk or distracted driver's attention, then a neon-reflective vest is the equivalent of an invisible cloak.

Roadway is a hazardous materials hot zone
Any time you are working on or near a roadway, you are in the hot zone of a hazardous materials incident. Vehicles, blunt trauma-inflicting machines, hurtle around you under the loose control of undertrained, often impaired and often distracted operators. Protect your life, livelihood and family's future by protecting yourself with time, distance and shielding.

Time: As little as possible
A lethal dose exposure on a roadway can happen in a fraction of a second. Minimize EMS personnel exposure by clearing the patient to an area of relative or improved safety as quickly as possible. Pick helicopter landing zones with limited and securable access.

A firefighter injured in a structure fire is not treated in the midst of the flames and smoke — a highly hazardous and unstable environment. Instead, the firefighter is evacuated quickly and aggressively out of the structure. The awaiting ambulance or helicopter is parked well outside of the building's collapse zone. Start visualizing any roadway incident as a fully-involved, multiple story structure fire.

Distance: Get out of the striking zone
Visual warnings — signs, flares, spotters — to drivers are nice, but not enough. Increase the frequency, visual loudness and upstream distance of warning signs from the incident.

It's even better to get out of the striking zone. Move the ambulance off the road as quickly as possible. Load and go to a parking lot, access road or location that is well outside of the striking range of impaired and reckless drivers. Find and use landing zones that are not within the accessible distance of a driver.

Shielding: Bigger and stronger wall
If personnel are stuck on the road because the patient requires prolonged extrication, build a bigger and stronger wall that is impenetrable by motor vehicles. If the opportunity exists to go around, through or over the wall of blocking vehicles, we can be sure that a determined, distracted or impaired driver will make an attempt to break through the shielding.

Finally, our brains are wired to see what we are expecting to see and poorly wired to see what we are not expecting. If you have ever driven west across South Dakota, you know that there are Wall Drug signs every few miles. Because your brain is expecting Wall Drug signs, you see nearly every one regardless of its size, distance from the road or message.

Very few drivers are ever overtaken by an emergency vehicle and thus often default to blissful unawareness or fight-or-flight driven erratic movement. Even fewer drivers are expecting a helicopter to be parked on the center line. Don't expect or rely on their impaired or distracted cognitive function to identify and react appropriately to this unexpected and never before encountered environmental change.



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Distinguishing spinocerebellar ataxia with pure cerebellar manifestation from multiple system atrophy (MSA-C) through saccade profiles

Motor coordination is achieved by the cerebellum, which sets the amplitude of the initial pulse that causes a movement, predicting the correct moment through an internal model to excite agonists and antagonists to start and stop the limb at the desired location and avoid overshoot, thereby enabling elements of coordinated and smooth actions and even integrating these into a complex action (Itoh, 2010). In order to induce coordinated motor actions, the cerebellar output acts as accelerator and brake to give the movement the appropriate speed and to stop it at the appropriate time.

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Pathological and Physiological Muscle Co-activation during Active Elbow Extension in Children with Unilateral Cerebral Palsy

Cerebral palsy (CP) is a neurological pathology caused by a defect or lesion of the immature brain, which leads to disorders of movement and posture. CP is characterized by a combination of motor impairments, including spasticity, hyper-reflexia, muscle weakness, loss of selective motor control and excessive muscle co-activation (CA). These motor impairments can severely limit activities of daily living (O'Shea 2008).

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Frequency-independent characteristics of high-frequency oscillations in epileptic and non-epileptic regions

Over the past few years, there has been growing interest in the analysis of interictal high frequency oscillations (HFO), primarily with the goal of understanding their value for identifying the epileptogenic zone and their correlation with epileptogenicity. HFO promise to be more specific than interictal spikes for epileptogenic brain tissue and even more specific than the seizure-onset area (Jacobs et al. 2008).

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Evidence-based guidelines on the therapeutic use of transcranial direct current stimulation (tDCS)

Principles and mechanisms of action of transcranial direct current stimulation Alterations of neuroplasticity and cortical excitability are important pathophysiological factors in many neuropsychiatric diseases. Thus, to modify cortical activities by using non-invasive brain stimulation (NIBS) might be a valuable therapeutic approach. One of these NIBS approaches is transcranial direct current stimulation (tDCS). Fifty years ago, it has been demonstrated in anesthetized rats that neural activity and cortical excitability could be modified by the application of direct current on the sensorimotor cortex, these effects depending on stimulation polarity and persisting for hours after the end of stimulation (Bindman et al., 1964).

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Bereitschaftspotential preceding spontaneous and voluntary eyelid blinks in normal individuals

The eyelid blink is affected in numerous neurological diseases, occurring with increasing frequency, as observed in dementia, hyperkinetic movement disorders, and schizophrenia, or its reduction, as in Parkinson's patients (Stevens, 1978; Chen et al., 2003; Bologna et al., 2009; Chan et al., 2010). In addition to the protective and moisturizing function of the cornea, the eyelid blink actively participates in saccadic eye movements, fixations, visual cognitive processing and emotional expressions (Delgado-García et al., 2002, 2003).

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Mycophenolate mofetil is a valid option in patients with inflammatory bowel disease resistant to TNF-α inhibitors and conventional immunosuppressants

Few studies investigated the role of mycophenolate mofetil in inflammatory bowel disease, and none of them had specifically focused on patients with previous multiple intolerances and/or nonresponses to conventional immunosuppressants and biologics.

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Isolated hypoganglionosis in young man with autism

A 30-year-old autistic man, presented recurrent sub-occlusive episodes since five years. The CT-scan suggested a bowel obstruction due to volvulus of sigmoid colon with a marked gaseous distention of the right colon inducing liver dislocation on the left and vena cava compression (Fig. 1). A colonoscopy was performed to derotate the volvulus. However, for the appearance of megacolon up to a diameter of 16cm, a total colectomy was performed. Histological examination showed a framework of intestinal hypoganglionosis (Fig.

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Bereitschaftspotential preceding spontaneous and voluntary eyelid blinks in normal individuals

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Publication date: Available online 28 October 2016
Source:Clinical Neurophysiology
Author(s): Isabella Araujo Mota, Otávio Gomes Lins
ObjectiveTo investigate the Bereitschaftspotential (BP) preceding spontaneous and voluntary eyelid blinks in normal subjects.MethodsEighteen healthy individuals (10 female) between 17 and 60 years (mean 35) were studied. The EEG was recorded from 11 scalp positions of the 10-20 international electrode placement system referenced to linked mastoids. The vertical electrooculogram (VEOG) was recorded from two electrodes positioned above and below the right eye. The ground electrode was placed in the right clavicle. The recordings were obtained during spontaneous and voluntary eyelid blinks. Two-second EEG segments before the onset of the blink potential (visually identified at the VEOG channel) were averaged and analyzed off-line. The statistical significance of differences was evaluated by repeated-measures analysis of variance with Geisser-Greenhouse correction for violation of sphericity and the Newman-Keuls test was used for post-hoc comparisons.ResultsA BP starting around -1700 ms prior to the onset of voluntary blink was observed; it had average amplitude in the negative peak of 3.3 μV. There was no BP preceding spontaneous blinking. Conclusion: A BP precedes voluntary blinks but not spontaneous blinks.SignificanceThis is the first study evaluating the BP preceding spontaneous and voluntary eye blinks.



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Mycophenolate mofetil is a valid option in patients with inflammatory bowel disease resistant to TNF-α inhibitors and conventional immunosuppressants

Few studies investigated the role of mycophenolate mofetil in inflammatory bowel disease, and none of them had specifically focused on patients with previous multiple intolerances and/or nonresponses to conventional immunosuppressants and biologics.

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Isolated hypoganglionosis in young man with autism

A 30-year-old autistic man, presented recurrent sub-occlusive episodes since five years. The CT-scan suggested a bowel obstruction due to volvulus of sigmoid colon with a marked gaseous distention of the right colon inducing liver dislocation on the left and vena cava compression (Fig. 1). A colonoscopy was performed to derotate the volvulus. However, for the appearance of megacolon up to a diameter of 16cm, a total colectomy was performed. Histological examination showed a framework of intestinal hypoganglionosis (Fig.

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Impact of ejection fraction on infectious, renal, and respiratory morbidity for patients undergoing noncardiac surgery

We sought to determine if decreased left ventricular systolic function was associated with an increased risk of postoperative infectious, respiratory, or renal complications in patients undergoing noncardiac surgery.

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Pan Drug-Resistant Environmental Isolate of Acinetobacter baumannii from Croatia

Microbial Drug Resistance , Vol. 0, No. 0.


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Global cognitive function and processing speed are associated with gait and balance dysfunction in Parkinson’s disease

Our primary objective was to determine the relationship between global cognitive function and specific domains of gait and balance in a cohort of Parkinson's disease (PD) subjects. In a secondary analysis, we ...

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Sequence analysis and expression profiles of TaABI5 , a pre-harvest sprouting resistance gene in wheat

Abstract

Pre-harvest sprouting (PHS) is the germination of grains in the spike under wet conditions before harvest, which causes a severe reduction in crop yield and flour quality. The phytohormone abscisic acid plays a key role in regulating seed dormancy, which inhibits pre-harvest spouting or vivipary for many important crops. TaABI5, belonging to a family of basic leucine zipper transcription factors could regulate a subset of late embryogenesis abundant genes during seed development, was isolated and characterized. Phylogenetic analysis revealed that TaABI5 homologous gene belonged to the ABI5 subgroup of the ABF/AREB/ABI5 subfamily. TaABI5 consist of four conserved domains and one bZip domain. The expression pattern of TaABI5 indicated that it was seed-specific and accumulated at late stages of seed development. Accumulation of TaABI5 in synthetic hexaploid wheat SHW-L1 (PHS resistance) was 8.93-fold higher than that in wheat cultivar Chuanmai 32 (PHS susceptible) at 25 days post anthesis. Four expression quantitative trait loci (eQTL) of TaABI5 on chromosome 2DS, 4DS, 6DS, and 7DL were characterized from SHW-L1/Chuanmai 32 derived recombinant inbred line population.



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Maternal genetic polymorphisms and unexplained recurrent miscarriage: a systematic review and meta-analysis

Abstract

Background

The roles of genetic polymorphisms in the pathogenesis of recurrent miscarriage (RM) have been intensively studied. However, the results of these studies were inconsistent, especially when conducted in different populations. Therefore, we performed the current study to systematically review the broad spectrum of genetic polymorphisms that were suspected to be involved in RM, and discussed potential genetic biomarkers of RM.

Methods

Eligible articles were identified in PubMed, Medline, Embase and CNKI. Odd ratios (ORs) and 95% confidence intervals (CIs) were used to describe the strength of association, and a probability value (P value) of 0.05 or less was considered as statistically significant.

Results

A total of 425 eligible articles were included in this systematic review and 369 articles evaluating 124 polymorphisms of 73 genes were meta-analyzed. A sSignificant associations was were found between RM and 53 genetic polymorphisms of 37 genes. Our findings suggest that genetic variants of HLA-G, IFNG, TNF, IL-6, IL-10, FII, FV, FXIII, ITGB3, MTR, MTHFR, PAI-1, NOS3, KDR, TP53, VEGFA, CYP17, CYP1A1, CYP2D6, ANXA5, and XCI may serve as potential biological markers of RM.

Conclusions

The present study indicates that over-active immunological responeses, thrombophilia, abnormal placental function, and disturbance of metabolic regulation may be implicated in the pathogenesis of RM.

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Graphical Abstract



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Population screening for spinal muscular atrophy: A mixed methods study of the views of affected families

Autosomal recessive conditions are a significant health burden with few treatments. Population carrier screening has been suggested as a means to tackle them. Little is known about the views of affected families despite the potential for direct impacts on them. Data are presented on attitudes among families affected by Spinal Muscular Atrophy (SMA) toward two population screening programs, pre-conception, and prenatal. Data were gathered through qualitative interviews (n = 36) and a survey (n = 337). Eighty-two survey participants had SMA and 255 were family members. The majority were in favor of screening (75%). Reasons for supporting pre-conception screening support were a belief that it would reduce SMA-related terminations and raise awareness of SMA in the population. For prenatal screening, reasons for support included a belief in the importance of informed decision-making and the need to reduce suffering. Key reasons for non-support of pre-conception screening included concerns about carrier stigmatization and social engineering. For prenatal screening, concerns focused on the collateral loss of high quality of life lives affected by SMA. This study highlights that those affected by SMA are predominantly in favor of screening, although pre-conception screening is most favored. While family members and adults with SMA had largely consistent views, perceptions varied according to the severity (type) of SMA, with those affected by SMA type II the least likely to support screening. These findings suggest that screening for SMA is a complex issue for affected families, underscoring the need to consider and include their views when planning and implementing screening programs. © 2016 Wiley Periodicals, Inc.



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Much ado about something 2: Reflections on the state of the American Journal of Medical Genetics 2016



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Review of familial cerebral cavernous malformations and report of seven additional families

Cerebral cavernous malformations are vascular anomalies of the central nervous system characterized by clusters of enlarged, leaky capillaries. They are caused by loss-of-function mutations in KRIT1, CCM2, or PDCD10. The proteins encoded by these genes are involved in four partially interconnected signaling pathways that control angiogenesis and endothelial permeability. Cerebral cavernous malformations can occur sporadically, or as a familial autosomal dominant disorder (FCCM) with incomplete clinical and neuroradiological penetrance and great inter-individual variability. Although the clinical course is unpredictable, symptoms typically present during adult life and include headaches, focal neurological deficits, seizures, and potentially fatal stroke. In addition to neural lesions, extraneural cavernous malformations have been described in familial disease in several tissues, in particular the skin. We here present seven novel FCCM families with neurologic and cutaneous lesions. We review histopathological and clinical features and provide an update on the pathophysiology of cerebral cavernous malformations and associated cutaneous vascular lesions. © 2016 Wiley Periodicals, Inc.



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Camptodactyly and the 22q11.2 deletion syndrome

We describe a 5-day-old male with minor facial anomalies, a congenital laryngeal web, severe laryngomalacia, and prominent fixed flexion of the proximal interphalangeal joints of digits 2 through 5 bilaterally. A whole genome SNP microarray analysis identified a 2.55 Mb interstitial deletion of 22q11.21, typical of that seen in the DiGeorge and Velocardiofacial syndromes. A review of the literature identifies 10 other cases with camptodactyly. Camptodactyly appears to be an associated but rarely reported anomaly in patients with the 22q11.2 microdeletion syndrome. © 2016 Wiley Periodicals, Inc.



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Sudden infant death “syndrome”—Insights and future directions from a Utah population database analysis

"Sudden Infant Death syndrome" (SIDS) represents the commonest category of infant death after the first month of life. As genome scale sequencing greatly facilitates the identification of new candidate disease variants, the challenges of ascribing causation to these variants persists. In order to determine the extent to which SIDS occurs in related individuals and their pedigree structure we undertook an analysis of SIDS using the Utah Population Database, recording, for example, evidence of enrichment for genetic causation following the back-to-sleep recommendations of 1992 and 1994. Our evaluation of the pre- and post back-to-sleep incidence of SIDS in Utah showed a decrease in SIDS incidence on the order of eightfold following back-to-sleep. An odds ratio of 4.2 for SIDS recurrence among sibs was identified from 1968 to 2013 which was similar to the odds ratio of 4.84 for death due to other or unknown cause among sibs of SIDS cases for the same time period. Combining first through thid degree relatives yielded an odds ratio of SIDS recurrence of 9.29 in the post-back-to-sleep (1995–2013) subset of SIDS cases where similar calculations of first-third degree relatives for the entire time period of 1968–2013 showed an odds ratio of 2.95. Expanded multigenertional pedigrees showing enrichment for SIDS were also identified. Based on these findings we hypothesize that post back-to-sleep SIDS, especially recurrences within a family, are potentially enriched for genetic causes due to the impact of safe sleeping guidelines in mitigating environmental risk factors. © 2016 Wiley Periodicals, Inc.



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Trisomy 18 and eye anomalies



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ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.

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Graphical Abstract



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Acupuncture does not restore metabolic disturbances in the P450 aromatase inhibitor induced-polycystic ovary syndrome rat model

Low-frequency electroacupuncture restores sex steroid synthesis and sympathetic activity in women with polycystic ovary syndrome, which may improve its metabolic disturbances likely by modulating sympathetic nerve activity or sex steroid synthesis. We investigated whether low-frequency electroacupuncture regulates the metabolic function to the same extent as treatment with estradiol or β-adrenergic blocking in a rat model of polycystic ovary syndrome induced by a P450 aromatase inhibitor (letrozole). Letrozole (200 μg per day) or placebo pellets were implanted in pre-pubertal Wistar rats. Six weeks thereafter, rats were treated for 5–6 weeks with: low-frequency electroacupuncture (5 days per week), a β-adrenergic blocker (propranolol hydrochloride, 0.1 mg kg−1) (5 days per week), or 17β-estradiol (2.0 μg) every fourth day. Body weight development, body composition, locomotor activity, insulin sensitivity, tissue specific glucose uptake, lipid profile, adipocyte size, adiponectin and insulin serum concentrations, and gene expression in inguinal fat were measured. All treatments increased circulating levels of LDL-cholesterol. Estradiol treatment restored locomotor activity and increased insulin sensitivity but did not modify the glucose uptake in muscle and fat. An upregulation of genes related to insulin sensitivity and downregulation of genes related to adipogenesis were observed in subcutaneous adipose tissue from rats exposed to letrozole. Only estradiol treatment normalized the expression of these genes. In conclusions, low-frequency electroacupuncture increased LDL-cholesterol without affecting the insulin sensitivity or adipose tissue function, which could suggest effects on hepatic lipid regulation probably mediated by estradiol action or β-adrenergic pathway.

This article is protected by copyright. All rights reserved



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Feasibility of laparoscopic total mesorectal excision with extended lateral pelvic lymph node dissection for advanced lower rectal cancer after preoperative chemoradiotherapy

World Journal of Surgery

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Evaluation of a potential interaction between new regimens to treat hepatitis C and warfarin

Annals of Pharmacotherapy

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Results of laparoscopic sleeve gastrectomy--5-year follow-up study in an eastern European emerging bariatric center

Obesity Surgery

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Long-term outcomes of heart transplant recipients with hepatitis C positivity: The data from the U.S. Transplant Registry

Clinical Transplantation

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