Παρασκευή, 30 Σεπτεμβρίου 2016

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report

CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)—a common cause of intellectual disability and co-morbid autism. Unmethylated premutation (55–199 repeats) and FM alleles have been associated with fragile X related tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder. Here we present a 33-year-old male with FXS, with white matter changes and progressive deterioration in gait with cerebellar signs consistent with probable FXTAS; there was no evidence of any other cerebellar pathology. We show that he has tissue mosaicism in blood, saliva, and buccal samples for the size and methylation of his expanded alleles and a de novo, unmethylated microdeletion. This microdeletion involves a ∼80 bp sequence in the FMR1 promoter as well as complete loss of the CGG repeat in a proportion of cells. Despite FMR1 mRNA levels in blood within the normal range, the methylation and CGG sizing results are consistent with the diagnosis of concurrent FXS and probable FXTAS. The demonstrated presence of unmethylated FM alleles would explain the manifestation of milder than expected cognitive and behavioral impairments and early onset of cerebellar ataxia. Our case suggests that individuals with FXS, who manifest symptoms of FXTAS, may benefit from more detailed laboratory testing. © 2016 Wiley Periodicals, Inc.



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The Therapist’s Role in Effective Marriage and Family Therapy Practice: The Case for Evidence Based Therapists

Abstract

In this paper we argue that the therapist is a crucial change variable in psychotherapy as a whole and in couple, marital, and family therapy specifically. Therapists who work with complex systems require more skills to negotiate demanding therapy contexts. Yet, little is known about what differentiates effective couple, marital, and family therapists from those who are less effective, what innate therapy skills they possess, how they learn, and how they operationalize their knowledge in the therapy room. We discuss the need to emphasize evidence based therapists (as opposed to therapies), and implications of the importance of the role therapists for training, practice, research priorities, and policy.



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The Doty Belt Lift Assist Harness saving the backs of first responders

The Doty Belt Lift Assist Harness saving the backs of first responders Anyone who works with medical patients on a regular basis knows how difficult it can be to have to move, lift, and carry those who cannot move, lift, or carry themselves ...

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Philips celebrates 20th anniversary of its first AED designed for public access with campaign to raise awareness of sudden cardiac arrest

Campaign focuses on the role of the "everyday hero" to help save a life Company reaches milestone of 1.5 millionth sale of HeartStart line of defibrillators globally AMSTERDAM, the Netherlands Royal Philips (NYSE: PHG, AEX: PHIA) today announced the 20th anniversary and 1.5 millionth sale of its HeartStart line of automated external defibrillators (AEDs), the first AED designed for the layperson ...

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Woman thanks off-duty EMT, nurse for saving her life

The EMT and school nurse were able to save the woman after she fell ill and lost control of her car, striking the front corner of the school.

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NF-Y and SP transcription factors – new insights in a long-standing liaison

Publication date: Available online 30 September 2016
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): Guntram Suske
For long it has been recognized that CCAAT boxes and GC-rich elements co-occur in many human and murine promoters within 100bp upstream of the transcription start site. The trimeric transcription factor NF-Y is the major CCAAT box-binding factor, and members of the SP family of transcription factors are the major GC box-binding proteins. Recent chromatin immunoprecipitations coupled with high throughput sequencing (ChIP-seq) have examined binding of NF-Y and the ubiquitous SP factors SP1, SP2 and SP3 genome-wide, allowing for comprehensive comparison of NF-Y and SP factor actions in the context of chromatin. Here, I attempt a synthesis of the earlier single-promoter type of analysis with the more recent genome-wide studies. In particular, I also discuss different modes of genomic interactions between SP factors and NF-Y that have emerged recently, and identify a key technical issue, which needs to be taken into account in a critical evaluation of genome-wide studies. This article is part of a Special Issue entitled: Nuclear Factor Y in Development and Disease

Graphical abstract

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Distinct protein and mRNA kinetics of skeletal muscle proton transporters following exercise can influence interpretation of adaptions to training

To better understand training-induced adaptations in skeletal muscle pH regulation, this study measured protein and mRNA kinetics of proton (H+) transporters for 72 h following a bout of high-intensity interval exercise (HIIE), conducted after 4 weeks of similar training. We also assayed muscle buffer capacity (βm) by titration technique (βmin vitro) over the same period. Sixteen active men cycled for 7 × 2 min at ∼80% of peak aerobic power, interspersed with 1 min rest. Compared to the first 9 h post-exercise, monocarboxylate transporter (MCT)1 protein content was ∼1.3-fold greater 24–72 h post-HIIE, whereas there was no such change in MCT4 protein content. Conversely, MCT1 and MCT4 mRNA expression progressively decreased 9–72 h post-HIIE. Sodium/hydrogen exchanger (NHE)1 protein content was lower 9 h post-HIIE (∼0.8-fold) compared to every other post-exercise timepoint, but NHE1 mRNA expression was 2.2 to 2.9-fold greater 24–72 h post-HIIE, compared to the first 24 h post-HIIE. Furthermore, we determined the intra-subject, inter-sample variability (11.5%) of βmin vitro for resting samples taken on consecutive days to be greater than the typical training effect (mean 6%; 95% CL ± 4%). In conclusion, the delay in steady-state protein turnover should inform biopsy timing in studies investigating the response to training of the H+ transport proteins, while the temporal resolution provided by single timepoints has been shown to be of limited epistemological value for their corresponding mRNA expression. Finally, our data cast doubt on the ecological validity of the βmin vitro assay for measuring true changes in βm.

This article is protected by copyright. All rights reserved



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Local depletion of glycogen with supra-maximal exercise in human skeletal muscle fibres

Abstract

Skeletal muscle glycogen is heterogeneous distributed in three separated compartments (intramyofibrillar, intermyofibrillar and subsarcolemmal). Although only constituting 4–15% of the total glycogen volume, the availability of intramyofibrillar glycogen has been shown to be of particular importance to muscle function. The present study was designed to investigate the depletion of these three sub-cellular glycogen compartments during repeated supra-maximal exercise in elite athletes. Ten elite cross-country skiers (age: 25 ± 4 yrs., VO2 max: 65 ± 4 ml kg−1 min−1, mean ± SD) performed four ∼4-minute supra-maximal sprint time trials (STT 1–4) with 45 min recovery. The sub-cellular glycogen volumes in m. triceps brachii were quantified from electron microscopy images before and after both STT 1 and STT 4. During STT 1, the depletion of intramyofibrillar glycogen was higher in type I fibres (−52% [−89:−15%]) than type 2 fibres (−15% [−52:22%]) (P = 0.02), while the depletion of intermyofibrillar glycogen (main effect: −19% [−33:0], P = 0.006) and subsarcolemmal glycogen (main effect: −35% [−66:0%], P = 0.03) was similar between fibre types. In contrast, only intermyofibrillar glycogen volume was significantly reduced during STT 4, in both fibre types (main effect: −31% [−50:−11%], P = 0.002). Furthermore, for each of the sub-cellular compartments, the depletion of glycogen during STT 1 was associated with the volumes of glycogen before STT 1. In conclusion, the depletion of spatially distinct glycogen compartments differs during supra-maximal exercise. Furthermore, the depletion changes with repeated exercise and is fibre type-dependent.

This article is protected by copyright. All rights reserved



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Rate of rise in diastolic blood pressure influences vascular sympathetic response to mental stress

Abstract

Research indicates that individuals may experience a rise (positive responders) or fall (negative responders) in muscle sympathetic nerve activity (MSNA) during mental stress. The aim was to examine the early blood pressure response to stress in positive and negative responders and thus its influence on the direction of change in MSNA. Blood pressure and MSNA were recorded continuously in 21 healthy young males during 2-min mental stressors (mental arithmetic, Stroop test) and physical stressors (cold pressor, handgrip exercise, post-exercise ischaemia). Participants were classified as negative or positive responders according to the direction of the mean change in MSNA during the stressor tasks. The peak changes, time of peak, and rate of changes in blood pressure were compared between groups. During mental arithmetic negative responders experienced a significantly greater rate of rise in diastolic blood pressure in the first minute of the task (1.3 ± 0.5 mmHg s−1) compared with positive responders (0.4 ± 0.1 mmHg s−1; P = 0.03). Similar results were found for the Stroop test. Physical tasks elicited robust parallel increases in blood pressure and MSNA across participants. It is concluded that negative MSNA responders to mental stress exhibit a more rapid rise in diastolic pressure at the onset of the stressor, suggesting a baroreflex-mediated suppression of MSNA. In positive responders there is a more sluggish rise in blood pressure during mental stress, which appears to be MSNA-driven. This study suggests that whether MSNA has a role in the pressor response is dependent upon the reactivity of blood pressure early in the task.

This article is protected by copyright. All rights reserved



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Closure of anterior palatal fistula using tongue flap: our experience

2016-09-30T06-56-44Z
Source: International Journal of Research in Medical Sciences
Peerzada Umar Farooq Baba, Tawheed Ahmad, Mir Mohsin, Haroon Rashid Zargar, Adil Hafeez Wani, Mohammad Inam Zaroo, Sheikh Adil Bashir, Altaf Rasool, Akram Hussain Bijli, Ovais Habib, Muhsin Masood, Mir Yasir, Hilal Ahmad Bhat.
Background: Palatal fistula is one of the most common complications following cleft palate repair. It occurs mostly due to tip necrosis of palatal flaps. Small palatal fistulas are usually closed by transposition of adjacent tissues, however these local tissues are not sufficient for the closure of bigger fistulas. The tongue flap serves as a reliable and most easily obtainable local flap for closure of large sized palatal fistulas. Methods: This is a prospective study conducted from Aug 2006 to July 2015 in the department of Plastic & Reconstructive Surgery, SKIMS, Srinagar, Jammu Kashmir, India. A total of 25 patients with large anterior palatal fistula were treated using anteriorly based tongue flap. Patients were selected on the basis of size of fistula (> 1x1 cm), scarred local palatal tissue or history of fistula recurrence after previous attempts of closure using local palatal tissues. Results: In present study 25 patients of palatal fistula were treated using tongue flap. Eighty percent patients were in the age group of 3 to 5 years. Male-to-female ratio was 2:3. The largest dimension of treated fistula was 4x3 cm. There was partial dehiscence of flap suture line in two patients while remnant fistula was observed in three patients. None of our patients had flap necrosis. Conclusions: Tongue flap is an excellent and versatile option for closure of large palatal fistulas with high success rate and least morbidity.


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A study on mental health status and its determinants in elderly people of Raipur city, Chhattisgarh, India

2016-09-30T06-33-59Z
Source: International Journal of Community Medicine and Public Health
Md. Naushad Alam, Sukhendra P. Singh, Vineeta S. Gupta, Dhiraj Bhawnani, Gopal P. Soni.
Background: Rapid increase in nuclear families and contemporary changes in psychosocial matrix makes vulnerable to older people to develop mental health Problems. In the above context study was done to assess mental health status and its determinants in elderly people of Raipur city, Chhattisgarh, India. Methods: Community based cross sectional study was conducted in randomly selected 32 areas of Raipur city during July 2013 to June 2014. Multi stage simple random sampling was used. A total of 640 subjects were included in study. Sample size was calculated by using statistical formula, n= Z21-α/2 P (1-P)/d.1 Predesigned and pretested proforma were used for data collection. Ethical consideration was obtained from institutional ethical Committee and Informed Consent from subject. All elderly of age 60 years and above who were residing in the study area for at least one year, and Willing to Participate in study without compulsion were included in study. Results: Out of total study population 20.31% had excellent whereas 79.68% showed average mental health status. Study observed that out of total study population 52.03% had anxiety whereas 27.65% had depression and 20.31% were normal that have excellent mental health status. Male had better mental health than female. Those who were performing physical activity during leisure time and economically independent and belong to upper socioeconomic group and married had better mental health. Conclusions: Females lives longer than male leads to feminization of ageing. It is important to improve the social capital and involve communities and families in supporting the older adults.


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Liver function abnormalities in falciparum malaria

2016-09-30T06-33-39Z
Source: International Journal of Advances in Medicine
N. Kotresh, Suresh.
Background: Malaria still continues to be a major killer of mankind especially in developing countries. Almost all deaths and severe disease are due to Plasmodium falciparum. It is observed that the patients of falciparum malaria with liver function abnormalities are more vulnerable to the development of complications like cerebral malaria, anemia, renal failure, acute respiratory distress syndrome, etc. Methods: 50 cases of Plasmodium falciparum malaria diagnosed by peripheral smear examination or by immuno-chromatographic test - falci check, pan malaria or by rapid optimal test were included in the study. All these patients were subjected to blood investigations like hemoglobin level, total leukocyte count, differential count, renal function tests, liver function tests and random blood sugar. Results: Serum bilirubin level was raised in 66% of cases with 28% of cases showing levels above 3.0g/dL. Patients with clinical jaundice showed mean 2-3 fold raise in AST levels along with ALT levels. 64% of cases had normal ALK levels. Serum proteins found to be normal in 92% of cases. Conclusions: Deranged liver functions are commonly seen as a complication of severe malarial infection. Presence of raised hepatic enzymes with near normal coagulation parameters, in presence of documented malarial infection should suggest presence of malarial hepatopathy.


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A study of cardiovascular abnormalities among cirrhosis of liver cases

2016-09-30T06-33-39Z
Source: International Journal of Advances in Medicine
Raghavendra, N. Kotresh, Shankar Naik.
Background: The correlations between alcohol consumption and cirrhosis of liver have been dealt with great detail. As with the many studies that have looked upon the mortality of the patients with cirrhosis, the speed of progression of the disease and the various situations in which the condition of the patient deteriorates, many have been inconclusive about the reason for death in patients of cirrhosis of liver as the disease progresses. Methods: This study was conducted in the department of medicine, Vijayanagara Institute of Medical Sciences, a tertiary care hospital in Bellary, Karnataka Study subjects: were a group of 50 patients with alcoholic cirrhosis, a group of 50 patients with non-alcoholic cirrhosis and 50 normal subjects without cirrhosis. Results: The ECG findings among alcoholics, low voltage complex 10%, long QT3% LAE 8% LVH16%. ST T changes 10%. Among non-alcoholic patients low voltage complex 4% Long QT 2% LAE 7%, LVH 16% ST T changes 16%. Conclusions: The cardiovascular abnormalities did not show much difference between the alcoholic and non-alcoholic patients.


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Event-related potentials elicited during working memory are altered in mild cognitive impairment

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Publication date: November 2016
Source:International Journal of Psychophysiology, Volume 109
Author(s): Rocío A. López Zunini, Frank Knoefel, Courtney Lord, Fiatsogbe Dzuali, Michael Breau, Lisa Sweet, Rafik Goubran, Vanessa Taler
Persons with Mild Cognitive Impairment (MCI) can experience deficits in working memory. In the present study, we investigated working memory in persons with MCI and cognitively healthy older adults using event-related potentials (ERPs). Participants performed an n-back working memory task with baseline (0-back), low load (1-back), and high load (2-back) working memory conditions. MCI participants' performance was less accurate than that of healthy older adults in both the 1-back and 2-back conditions, and reaction times were longer in MCI than control participants in the 0-back, 1-back and 2-back conditions. ERP analyses revealed delayed P200 and N200 latencies and smaller P300 amplitudes in MCI relative to control participants in the 0-back, 1-back and 2-back conditions. Deterioration in working memory performance concomitant with marked electrophysiological alterations suggests that persons with MCI exhibit deficits in several cognitive processes that include early attention, stimulus discrimination and classification, and updating and manipulation of information held in working memory.



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Transanal endoscopic microsurgery (TEM) and transanal minimally invasive surgery (TAMIS): Is one technique superior?

The American Journal of Surgery

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Validation of the Crohn’s and Ulcerative Colitis questionnaire in patients with acute severe ulcerative colitis

United European Gastroenterology Journal

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Is a pediatrician performed gray scale ultrasonography with power Doppler study safe and effective for triaging acute non-perforated appendicitis for conservative management?

Journal of Pediatric Surgery

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Effect of daily calcitriol supplementation with and without calcium on disease regression in non-alcoholic fatty liver patients following an energy-restricted diet: Randomized, controlled, double-blind trial

Clinical Nutrition

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Expression of the anaphylatoxin C5a receptor in gastric cancer: implications for vascular invasion and patient outcomes

Medical Oncology

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Effects of baseline abdominal pain and bloating on response to lubiprostone in patients with irritable bowel syndrome with constipation

Alimentary Pharmacology and Therapeutics

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Impact of surgical complications following resection of locally advanced rectal adenocarcinoma on adjuvant chemotherapy delivery and survival outcomes

Diseases of the Colon and Rectum

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A randomized trial comparing terlipressin and noradrenaline in patients with cirrhosis and septic shock

Liver International

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A comparison of cancer stem cell markers and non-classical mhc antigens in colorectal tumor and non-cancerous tissues

Annals of Diagnostic Pathology

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Decline of cellular activation in non-B cells after rituximab treatment in hepatitis C-associated mixed cryoglobulinemia vasculitis

Journal of Viral Hepatitis

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Identification of bacterial invasion in necrotizing enterocolitis specimens using fluorescent in situ hybridization

Journal of Perinatology

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Quantitative intrahepatic HBV ccc DNA correlates with histological liver inflammation in chronic hepatitis B virus infection

International Journal of Infectious Diseases

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Sofosbuvir and ribavirin for six weeks is not effective among people with recent HCV infection: The DARE-C II study

Hepatology

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Role of fluorouracil, doxorubicin, and streptozocin therapy in the preoperative treatment of localized pancreatic neuroendocrine tumors

Journal of Gastrointestinal Surgery

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Preoperative risk factors for intra-operative bleeding in pediatric liver transplantation

Pediatric Transplantation

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Randomized clinical trial comparing two vessel-sealing devices with crush clamping during liver transection

British Journal of Surgery

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Evaluation of magnetic resonance (MR) biomarkers for assessment of response with response evaluation criteria in solid tumors: Comparison of the measurements of neuroendocrine tumor liver metastases (NETLM) with various MR sequences and at multiple phases of contrast administration

Journal of Computer Assisted Tomography

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The impact of the speed of food intake on gastroesophageal reflux events in obese female patients

Diseases of the Esophagus

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Impact of hospital volume on risk-adjusted mortality following oesophagectomy in Japan

British Journal of Surgery

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Efficacy of retroperitoneal triple neurectomy for refractory neuropathic inguinodynia

The American Journal of Surgery

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