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Neuronal ceroid lipofuscinosis (NCL) is a group of progressive neurodegenerative disorders characterized by intracellular accumulation of ceroid lipopigments. Based on gene defect of NCL-associated proteins, 14 types of NCL have been described till date. NCL type 11 was first described in 2014 in two siblings as adult-onset NCL and was found to be due to a homozygous progranulin gene mutation. These siblings had progressive retinopathy, recurrent generalized seizures, moderate ataxia and subtle cognitive dysfunction. Palinopsia was present and MRI showed selective and severe cerebellar atrophy which was progressive with age. There have been no further reports of NCL 11 in literature. We here present a 14-year old girl born to second degree consanguineous couple who presented with gradually increasing frequency of seizures for the past 1?year without any signs of visual abnormalities and dementia. She had an elder sister who had progressive seizures and dementia from 8?years of age and died after few years. Her electroencephalogram showed frequent generalized epileptiform discharges and magnetic resonance imaging (MRI) showed pure cerebellar atrophy mainly affecting the vermis. MRI findings suggested a neurodegenerative disorder like NCL and prompted us to go for whole exome screen which revealed NCL type 11 due to homozygous mutation c.912G>A (p.Trp304Ter) in exon 9 of GRN gene (OMIM#614706). To the best of our knowledge this is the third case of NCL 11 and the first from Asia. 相似文献
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Anita Chakravarti Mayank Singh Chauhan Suman Kumar Anzar Ashraf 《Archives of virology》2013,158(3):571-581
Dengue is an important arboviral disease of tropical and subtropical regions, with significant morbidity and mortality. Dengue virus is antigenically classified into four serotypes, which are further classified into 4–5 genotypes based on their genetic diversity. Since genotypes vary in their virulence, their detection and analysis of spatial and temporal transition are essential. We utilized sequence information from the E-NS1 gene region for molecular and phylogenetic characterization of dengue viruses isolated from dengue patients between 2007 and 2009. All four serotypes and multiple genotypes were detected, with predominance and emergence of DENV-1 genotype V. Phylogenetic analysis revealed the emergence of DENV-1 genotype V from India for the first time, which has replaced the earlier circulating genotype III and genotype I. The circulation of multiple genotypes and genotype replacement is critical, since genotypes vary in their virulence, and this should be a point of concern for healthcare agencies. 相似文献
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Verma PK Sandhu MS Mittal BR Aggarwal N Kumar A Mayank M Bhattacharya A Anand RK Grover A 《Angiology》2004,55(3):309-318
Spontaneous coronary artery dissection is rare, but is now being increasingly recognized as a prominent cause of acute ischemic coronary events occurring usually in relatively young patients, predominantly females. The authors describe the clinical course of 3 patients (1 woman) in whom large spontaneous coronary artery dissections developed. All had diverse clinical presentations;1 presenting with heart failure, the second with post-myocardial infarction angina, and the third with syncope. The second patient underwent coronary angioplasty with multiple overlapping stents while in the other two, it was the considered opinion to continue aggressive medical therapy. The 1-year follow-up was uneventful in all 3 patients. The risk factors ascertained in our patients were diabetes mellitus, smoking, and hypertension. 相似文献
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Vasudeva G. Iyer 《Muscle & nerve》1998,21(5):675-677
A case of ulnar neuropathy, selectively affecting the deep branch and showing positive palmaris brevis sign, is reported. The palmaris brevis muscle was not only intact, but also showed excessive cocontraction with abductor digiti minimi. Palmaris brevis sign, when present, is useful in clinically localizing the site of the ulnar nerve lesion. © 1998 John Wiley & Sons, Inc. Muscle Nerve 21:675–677, 1998. 相似文献
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Kombucha is a fermented tea made from a Symbiotic Culture of Bacteria and Yeast (SCOBY) with a long history of use as a health tonic. It is likely that most health benefits come from the tea and fermentation metabolites from specific microbial communities. Despite its growing importance as a functional health drink, the microbial ecosystem present in kombucha has not been fully documented. To characterize the microbial composition and biochemical properties of ‘The Good Brew’ original base kombucha, we used metagenomics amplicon (16S rRNA and ITS) sequencing to identify the microbial communities at the taxonomic level. We identified 34 genera with 200 microbial species yet described in kombucha. The dominance of organic acid producing microorganisms Acetobacter, Komagataeibacter and Starmerella are healthy for the human gut and their glucose metabolising activities have a putative role in preventing conditions such as diabetes and obesity. Kombucha contains high protein (3.31 µg/mL), high phenolic content (290.4 mg/100 mL) and low sugars (glucose: 1.87 g/L; sucrose 1.11 g/L; fructose: 0.05 g/L) as compared to green tea. The broad microbial diversity with proven health benefits for the human gut suggests kombucha is a powerful probiotic. These findings are important to improve the commercial value of kombucha and uncover the immense prospects for health benefits. 相似文献
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