Microbial Drug Resistance , Vol. 0, No. 0.
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Τετάρτη 29 Ιουνίου 2016
The 4th Great Wall Symposium, 2015
Genome-editing technologies for gene correction of hemophilia
Abstract
Hemophilia is caused by various mutations in blood coagulation factor genes, including factor VIII (FVIII) and factor IX (FIX), that encode key proteins in the blood clotting pathway. Although the addition of therapeutic genes or infusion of clotting factors may be used to remedy hemophilia's symptoms, no permanent cure for the disease exists. Moreover, patients often develop neutralizing antibodies or experience adverse effects that limit the therapy's benefits. However, targeted gene therapy involving the precise correction of these mutated genes at the genome level using programmable nucleases is a promising strategy. These nucleases can induce double-strand breaks (DSBs) on genomes, and repairs of such induced DSBs by the two cellular repair systems enable a targeted gene correction. Going beyond cultured cell systems, we are now entering the age of direct gene correction in vivo using various delivery tools. Here, we describe the current status of in vivo and ex vivo genome-editing technology related to potential hemophilia gene correction and the prominent issues surrounding its application in patients with monogenic diseases.
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An Incidental Finding of Unicornuate Uterus with Unilateral Ovarian Agenesis and Ipsilateral Twining of Fallopian Tubes During Cesarean
2016-06-29T17-56-52Z
Source: Journal Of Advance Researches In Biological Sciences (A Peer Reviewed Indexed Medical Journal)
*Stuti Tyagi, Suchitra Jain, Surinder Singh and Pragya .S.Yog.
Congenital anomalies of the uterus have long been recognized as a cause of obstetric as well as gynecological complications. However, the incidence of anatomic uterine defects is difficult to determine since many women with such anomalies are not diagnosed, especially if they are asymptomatic 1 . About 2-4% of fertile women with normal reproductive outcomes have associated uterine anomalies 2. Unicornuate uterus accounted for 9.6% of all uterine anomalies 1. In this case report, we presented a case of unicornuate uterus with unilateral ovarian agenesis and ipsilateral twining of fallopian tube diagnosed incidentally during cesarean delivery.
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A cross sectional study on Pattern of tobacco consumption and prevalence of passive smoking and its health hazard awareness among elderly patients.-A coastal karnataka study
2016-06-29T17-56-52Z
Source: Journal Of Advance Researches In Biological Sciences (A Peer Reviewed Indexed Medical Journal)
*Vinayak J Kempaller, K G Kiran, Shruthi M Shetty, Sandeep Patil, Udaya kiran N, Dinesh S M.
INTRODUCTION : Passive smoking is the combination of side stream smoke given off by a burning tobacco product and mainstream smoke exhaled by a smoker. Exposure to passive smoking can take place at home, workplace or at public places. The present study is a cross sectional study conducted to assess the prevalence of passive smoking and to know the knowledge regarding ill effects among female patients. MATERIALS AND METHOD : In this study 130 patients were recruited in different RHCs of costal Karnataka. The patients were interviewed using a pre-tested, structured questionnaire. RESULTS : A total of 130 patients ,(55.4% males, and 44.6% females), among these 39.2% were using tobacco in any form. Around 61.5% patients were exposed to tobacco smoke in last thirty days at any place.In 30.8% patients home ,smoking was allowed.20.8% of female patients gave history of smoking by their husbands .48.5% patients were aware that passive smoking causes health Hazard. Among these, majority (52.3%) of them were aware that passive smoking causes lung cancer.CONCLUSION: The smokers in a public places were the main source for passive smoking among elderly patients. The present study is limited to small sample size and its lightening to further studies in a large sample size to conclude the same.
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Trichilemmoma in Childhood
A 7-year-old Chinese American boy presented to a primary care clinic (PCC) with concerns about two masses located on his neck. The patient's mother reported that the masses had been present for 8 months and had fluctuated in size. The masses had not been incised or biopsied. The patient denied any pain associated with the masses, and his review of systems was negative. After four examinations at the PCC, two courses of antibiotics, one examination by an otolaryngologist (ENT), and a histologic examination of the mass, the patient was diagnosed with trichilemmoma.
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Efficacy of Carica Papaya Leaf extract in treating thrombocytopenia in Cases of Dengue
2016-06-29T17-56-52Z
Source: Journal Of Advance Researches In Biological Sciences (A Peer Reviewed Indexed Medical Journal)
*Abhishek Gupta, Vinod Tyagi, SKK Malik,SK Virmani and Saurabh Singhal.
AIM: The study was conducted to evaluate the efficacy of Carica papaya leaf extract (CPLE) to increase platelets in patients with dengue fever (DF) with thrombocytopenia.METHOD: The study was conducted in Chhatrapati Shivaji Subharti Hospital,Meerut. A total of 50 subjects were enrolled who had thrombocytopenia with dengue. The subjects were divided into two groups as cases and control group. The intervention group also received CPLE tablets three times daily for five days. Both the groups were managed as per WHO guidelines for management of dengue.Platelet monitoring was done daily. The results showed that CPLE had significantly increased the platelet count during the therapy period, in dengue fever patients, compared to the control group. Thus this study concluded that Caricapapaya leaf extract (CPLE) significantly increase the platelet count in patients with dengue with thrombocytopenia.
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Wisteria floribunda agglutinin-sialylated mucin core polypeptide 1 is a sensitive biomarker for biliary tract carcinoma and intrahepatic cholangiocarcinoma: a multicenter study
Abstract
Background
Wisteria floribunda agglutinin (WFA)-sialylated mucin core polypeptide 1 (MUC1) was investigated as a new glycoprotein marker for cholangiocarcinoma (CC) using glycoproteomics technologies. In this multicenter study, WFA-sialylated MUC1 levels in serum and bile samples were measured to determine their diagnostic capability in biliary tract carcinoma (BTC) and intrahepatic (Ih) CC.
Methods
The study included 244 patients with BTC, 59 patients with IhCC, 287 patients with benign biliary tract diseases, and 44 control subjects.
Results
Serum WFA-sialylated MUC1 levels were significantly higher in patients with either BTC or IhCC than in control subjects and those with benign biliary tract diseases. Patients with IhCC showed higher WFA-sialylated MUC1 levels than patients with tumors at other sites. No significant differences in WFA-sialylated MUC1 levels were found with regard to cancer stage or tissue type. Receiver operating characteristic curve analysis showed that WFA-sialylated MUC1 was superior to carbohydrate antigen 19-9 (CA19-9) and carcinoembryonic antigen (CEA) for the diagnosis of benign biliary tract diseases, BTC, and IhCC, as well as for stage I and II carcinomas. Significantly higher levels of biliary WFA-sialylated MUC1 were observed in BTC/IhCC than in benign biliary tract diseases. The diagnostic capability of biliary WFA-sialylated MUC1 was also superior to that of CA19-9, and diagnostic sensitivity was higher than that of biliary cytology for BTC/IhCC.
Conclusions
WFA-sialylated MUC1 is a useful novel biomarker for BTC/IhCC. In the future, this measurement should be applied in the clinical setting.
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Role of Cl-HCO3 exchanger AE3 in intracellular-pH homeostasis in cultured murine hippocampal neurons, and in crosstalk to adjacent astrocytes
Abstract
The anion exchanger AE3, expressed in hippocampal (HC) neurons but not astrocytes, contributes to intracellular pH (pHi) regulation by facilitating the exchange of extracellular Cl− for intracellular HCO3−. The human AE3 polymorphism A867D is associated with idiopathic generalized epilepsy. Moreover, AE3 knockout (AE3–/–) mice are more susceptible to epileptic seizure. The mechanism of these effects has been unclear because the starting pHi in AE3–/– and wild-type neurons is indistinguishable. The purpose of the present study was to use AE3–/– mice to investigate the role of AE3 in pHi homeostasis in HC neurons, co-cultured with astrocytes. We find that the presence of AE3 increases the acidification rate constant during pHi recovery from intracellular alkaline loads imposed by reducing [CO2]. The presence of AE3 also speeds intracellular acidification during the early phase of metabolic acidosis (MAc), not just in neurons but, surprisingly, in adjacent astrocytes. Additionally, AE3 contributes to braking the decrease in pHi later during MAc in both neurons and astrocytes. Paradoxically, AE3 enhances intracellular re-alkalization after MAc removal in neurons and astrocytes, and pHi recovery from an ammonium-prepulse-induced acid load in neurons. The effects of AE3 knockout on astrocytic pHi homeostasis in MAc-related assays require the presence of neurons, and are consistent with the hypothesis that the AE3 KO reduces functional expression of astrocytic NBCe1. These findings suggest a new type of neuron-astrocyte communication, based on the expression of AE3 in neurons, which could explain how AE3 reduces seizure susceptibility.
This article is protected by copyright. All rights reserved
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Efficacy of prothrombin complex concentrate treatment in patients with liver coagulopathy who underwent various invasive hepatobiliary and gastrointestinal procedures
Case Reports in Gastroenterology
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High-definition colonoscopy increases adenoma detection rate
Surgical Endoscopy
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Correlation between fecal calprotectin levels, disease severity and the hypervirulent ribotype 027 strain in patients with Clostridium difficile infection
BMC Infectious Diseases
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Partially-covered stent placement versus surgical gastrojejunostomy for the palliation of malignant gastroduodenal obstruction secondary to pancreatic cancer
Abdominal Imaging
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Prevalence of hepatitis B virus in the Kurram Agency, Pakistan: A 5-year observational study in a war-affected region
Journal of Clinical Virology
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Oro-dental features of Pallister–Killian syndrome: Evaluation of 21 European probands
Pallister–Killian syndrome (PKS) is a rare sporadic multi-systemic developmental disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. A wide range of clinical characteristics including intellectual disability, seizures, and congenital malformations has previously been described. Individuals with PKS show a characteristic facial phenotype with frontal bossing, alopecia, sparse eyebrows, depressed nasal bridge, long philtrum, telecanthus, and posteriorly rotated ears. Oro-dental features, such as "Pallister lip," macroglossia, delayed eruption of primary teeth, high arched-palate, prognathism, and cleft palate have been occasionally reported in the medical literature. The aim of the study was to assess the oro-dental phenotype of PKS and to describe the oral health status in a cohort participating in the First European Workshop on PKS. A clinical dental examination was performed in 21 Caucasian probands and data regarding medical and dental history collected. Twelve probands (57%) showed an atypical dental pattern, with multiple missing teeth (primarily the first permanent molars) and 2 (10%) a double teeth. The severity of gingivitis and dental caries increased with age and gingival overgrowth was a common finding. A characteristic occlusive phenotype was found: a high-arched palate with mandibular prognathism associated with an anterior openbite and crossbite and with posterior crossbite (unilateral or bilateral). The prevalence of oral habits (non-nutritive sucking, mouth breathing, bruxism) was high, even in older probands. This study suggests that individuals affected by PKS should be observed closely for oro-dental diseases and a multidisciplinary approach is needed to implement the right preventive measures. © 2016 Wiley Periodicals, Inc.
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Spatiotemporal distribution of location and object effects in the electromyographic activity of upper extremity muscles during reach-to-grasp
In reaching to grasp an object, proximal muscles that act on the shoulder and elbow classically have been viewed as transporting the hand to the intended location, while distal muscles that act on the fingers simultaneously shape the hand to grasp the object. Prior studies of electromyographic (EMG) activity in upper extremity muscles therefore have focused, by and large, either on proximal muscle activity during reaching to different locations or on distal muscle activity as the subject grasps various objects. Here, we examined the EMG activity of muscles from the shoulder to the hand, as monkeys reached and grasped in a task that dissociated location and object. We quantified the extent to which variation in the EMG activity of each muscle depended on location, on object, and on their interaction—all as a function of time. Although EMG variation depended on both location and object beginning early in the movement, an early phase of substantial location effects in muscles from proximal to distal was followed by a later phase in which object effects predominated throughout the extremity. Interaction effects remained relatively small. Our findings indicate that neural control of reach-to-grasp may occur largely in two sequential phases: the first, serving to project the entire upper extremity toward the intended location, and the second, acting predominantly to shape the entire extremity for grasping the object.
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Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study
Many studies have attempted to establish the genotype–phenotype correlation in Rett syndrome (RTT). Cardiorespiratory measurements provide robust objective data, to correlate with each of the different clinical phenotypes. It has important implications for the management and treatment of this syndrome. The aim of this study was to correlate the genotype with the quantitative cardiorespiratory data obtained by neurophysiological measurement combined with a clinical severity score. This international multicenter study was conducted in four European countries from 1999 to 2012. The study cohort consisted of a group of 132 well-defined RTT females aged between 2 and 43 years with extended clinical, molecular, and neurophysiological assessments. Diagnosis of RTT was based on the consensus criteria for RTT and molecular confirmation. Genotype–phenotype analyses of clinical features and cardiorespiratory data were performed after grouping mutations by the same type and localization or having the same putative biological effect on the MeCP2 protein, and subsequently on eight single recurrent mutations. A less severe phenotype was seen in females with CTS, p.R133C, and p.R294X mutations. Autonomic disturbances were present in all females, and not restricted to nor influenced by one specific group or any single recurrent mutation. The objective information from non-invasive neurophysiological evaluation of the disturbed central autonomic control is of great importance in helping to organize the lifelong care for females with RTT. Further research is needed to provide insights into the pathogenesis of autonomic dysfunction, and to develop evidence-based management in RTT. © 2016 Wiley Periodicals, Inc.
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Associative spike timing-dependent potentiation of the basal dendritic excitatory synapses in the hippocampus in vivo
Spike timing-dependent plasticity in the hippocampus has rarely been studied in vivo. Using extracellular potential and current source density analysis in urethane-anesthetized adult rats, we studied synaptic plasticity at the basal dendritic excitatory synapse in CA1 after excitation-spike (ES) pairing; E was a weak basal dendritic excitation evoked by stratum oriens stimulation, and S was a population spike evoked by stratum radiatum apical dendritic excitation. We hypothesize that positive ES pairing—generating synaptic excitation before a spike—results in long-term potentiation (LTP) while negative ES pairing results in long-term depression (LTD). Pairing (50 pairs at 5 Hz) at ES intervals of –10 to 0 ms resulted in significant input-specific LTP of the basal dendritic excitatory sink, lasting 60–120 min. Pairing at +10- to +20-ms ES intervals, or unpaired 5-Hz stimulation, did not induce significant basal dendritic or apical dendritic LTP or LTD. No basal dendritic LTD was found after stimulation of stratum oriens with 200 pairs of high-intensity pulses at 25-ms interval. Pairing-induced LTP was abolished by pretreatment with an N-methyl-d-aspartate receptor antagonist, 3-(2-carboxypiperazin-4-yl)-propyl-1-phosphonic acid (CPP), which also reduced spike bursting during 5-Hz pairing. Pairing at 0.5 Hz did not induce spike bursts or basal dendritic LTP. In conclusion, ES pairing at 5 Hz resulted in input-specific basal dendritic LTP at ES intervals of –10 ms to 0 ms but no LTD at ES intervals of –20 to +20 ms. Associative LTP likely occurred because of theta-rhythmic coincidence of subthreshold excitation with a backpropagated spike burst, which are conditions that can occur naturally in the hippocampus.
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Network feedback regulates motor output across a range of modulatory neuron activity
Modulatory projection neurons alter network neuron synaptic and intrinsic properties to elicit multiple different outputs. Sensory and other inputs elicit a range of modulatory neuron activity that is further shaped by network feedback, yet little is known regarding how the impact of network feedback on modulatory neurons regulates network output across a physiological range of modulatory neuron activity. Identified network neurons, a fully described connectome, and a well-characterized, identified modulatory projection neuron enabled us to address this issue in the crab (Cancer borealis) stomatogastric nervous system. The modulatory neuron modulatory commissural neuron 1 (MCN1) activates and modulates two networks that generate rhythms via different cellular mechanisms and at distinct frequencies. MCN1 is activated at rates of 5–35 Hz in vivo and in vitro. Additionally, network feedback elicits MCN1 activity time-locked to motor activity. We asked how network activation, rhythm speed, and neuron activity levels are regulated by the presence or absence of network feedback across a physiological range of MCN1 activity rates. There were both similarities and differences in responses of the two networks to MCN1 activity. Many parameters in both networks were sensitive to network feedback effects on MCN1 activity. However, for most parameters, MCN1 activity rate did not determine the extent to which network output was altered by the addition of network feedback. These data demonstrate that the influence of network feedback on modulatory neuron activity is an important determinant of network output and feedback can be effective in shaping network output regardless of the extent of network modulation.
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Awake, sedated or anaesthetised for regional anaesthesia block placements?: A retrospective registry analysis of acute complications and patient satisfaction in adults.
BACKGROUND: Whether adults should be awake, sedated or anaesthetised during establishment of regional anaesthesia is still debated and there is little information on the relative safety of each. In paediatric practice, there is often little choice but to use sedation or anaesthesia as otherwise the procedures would be too distressing and patient movement would be hazardous. OBJECTIVE(S): The objective of this study was to evaluate complications related to central and peripheral regional block and patient satisfaction in awake, sedated and anaesthetised adult patients. DESIGN: A retrospective registry analysis. SETTING: The German Network of Regional Anaesthesia database was analysed between 2007 and 2012. PATIENTS: We included data of 42 654 patients and defined three groups: group I awake (n = 25 004), group II sedated (n = 15 121) and group III anaesthetised (n = 2529) for block placement. MAIN OUTCOME MEASURES: Odds ratios [OR; 95% confidence interval (CI)] were calculated with logistic regression analysis and adjusted for relevant confounders to determine the risk of block-related complications in sedated or anaesthetised patients compared with awake patients. RESULTS: Rates of local anaesthetic systemic toxicity were comparable between the groups [awake 0.02% (95% CI: 0.002 to 0.0375), sedated 0.02% (95% CI: 0.003 to 0.042) and anaesthetised 0% (95% CI: 0 to 0.12%)], as were the rates of pneumothorax [awake 0.035% (95% CI: 0 to 0.074), sedated 0% (95% CI: 0 to 0.002) and anaesthetised 0.2% (95% CI: 0 to 0.56)]. Considering peripheral nerve blocks, sedated patients had a decreased risk for multiple skin puncture [adjusted OR: 0.78 (0.71 to 0.85), premature termination [adjusted OR: 0.45 (0.22 to 0.91)], primary failure [adjusted OR: 0.58 (0.40 to 0.83)] and postoperative paraesthesia [adjusted OR: 0.35 (0.28 to 0.45)], but an increased risk for a bloody tap [adjusted OR: 1.82 (1.50 to 2.21)]. General anaesthesia increased the risk of a bloody tap [adjusted OR: 1.33 (1.01 to 1.78)] and multiple skin puncture [adjusted OR: 1.28 (1.12 to 1.46)], but decreased the risk for postoperative paraesthesia [adjusted OR: 0.16 (0.06 to 0.38)]. In neuraxial sites, sedation increased the risk for multiple skin puncture [adjusted OR: 1.18 (1.09 to 1.29)], whereas block placement under general anaesthesia decreased the risk for multiple skin puncture [adjusted OR: 0.53 (0.39 to 0.72)] and bloody tap but significantly increased the risk for postoperative paraesthesia related to a catheter [adjusted OR: 2.45 (1.19 to 5.02)]. Sedation was associated with a significant improvement in patient satisfaction. CONCLUSION: Sedation may improve safety and success of peripheral nerve block placement. Block placement under general anaesthesia in adults should be reserved for experienced anaesthesiologists and special situations. (C) 2016 European Society of Anaesthesiology
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Reply to: haemostasis assessment in patients with cirrhosis.
No abstract available
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Metamizole for postoperative pain therapy.
No abstract available
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Psychological distress, burnout and personality traits in Dutch anaesthesiologists.
No abstract available
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Early matrix metalloproteinase-9 concentration in the first 48 h after aneurysmal subarachnoid haemorrhage predicts delayed cerebral ischaemia: An observational study.
BACKGROUND: Delayed cerebral ischaemia from vasospasm is an important cause of complications and death after aneurysmal subarachnoid haemorrhage. There is currently no established biomarker for identifying patients at high risk of delayed cerebral ischaemia. OBJECTIVE: Considering the important role of inflammation in the pathogenesis of delayed cerebral ischaemia, we investigated whether matrix metalloproteinase-9 (MMP-9) may be an efficient biomarker for predicting elayed cerebral ischaemia after subarachnoid haemorrhage. DESIGN: Single-centre prospective observational study in a Neuroscience Critical Care Unit of a teaching hospital. PARTICIPANTS: Thirty consecutive patients with severe subarachnoid haemorrhage requiring external ventricular drainage were enrolled during 2013 and 2014. INTERVENTIONS: Blood and cerebrospinal fluid (CSF) were sampled within the first 24 h and between 48 and 72 h after admission. We evaluated the activity and concentrations of MMP-9 and endothelin-1 with zymography and ELISA. Patients were allocated to groups with delayed cerebral ischaemia (n = 16) or without delayed cerebral ischaemia (n = 14). RESULTS: Within 24 h, median [interquartile range] MMP-9 concentrations in CSF were significantly higher in patients with delayed cerebral ischaemia (47 [21 to 102] ng ml-1) than in those without delayed cerebral ischaemia (4 [2 to 13] ng ml-1, P = 0.001). CSF MMP-9 activity and endothelin-1 concentrations were correlated (r = 0.6, P = 0.02). The areas under the receiver operating characteristic curves were 0.73 (95% confidence interval [0.53 to 0.87]) and 0.91 (95% confidence interval [0.75 to 0.98]) for MMP-9 concentrations in plasma and CSF, respectively, at 24 h to predict delayed cerebral ischaemia CSF MMP-9 concentrations more than 14.3 ng ml-1 at 24 h predicted the occurrence of delayed cerebral ischaemia with a sensitivity and specificity of 88 and 86%, respectively. After multivariate logistic analysis, only CSF MMP-9 concentrations at 24 h predicted the occurrence of delayed cerebral ischaemia (P = 0.01). CONCLUSION: MMP-9 concentrations in both plasma and CSF, measured within 48 h after subarachnoid haemorrhage, were highly predictive of the occurrence of delayed cerebral ischaemia within the first 2 weeks. TRIAL REGISTRATION: Clinicaltrials.gov identifier: NCT02397759. (C) 2016 European Society of Anaesthesiology
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Siblings with severe pyruvate kinase deficiency and a complex genotype
Siblings presented as neonates with severe jaundice and transfusion-dependent hemolytic anemia. Next-generation sequencing revealed both to have three heterozygous mutations in the gene encoding erythrocyte pyruvate kinase (PKLR), plus a heterozygous splice mutation in the beta-spectrin gene (SPTB). In addition, both have a different 5th mutation in a gene encoding other erythrocyte membrane proteins. The asymptomatic parents and all three asymptomatic siblings have different sets of these mutations. © 2016 Wiley Periodicals, Inc.
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