Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis

Conclusion This study described four Chinese LINCL siblings who were diagnosed by WES. The patients of these four families had similar disease courses started from motor regression or seizures to cognition regression and visual loss but carried mutations in different genes i.e. CLN2, CLN5, CLN6, and CLN7. The clinical features of LINCLs in these four Chinese siblings were not significantly different from those of Western patients. However, all Chinese LINCL patients in this study presented similar clinical course despite the affected genes. We assumed it as an ethnic specific clinical course according to our observation. Expanded sample size will be helpful to investigation of phenotype-genotype correlation. Besides, a platform for better communication, data and diagnostic experience sharing between Chinese and international clinicians is also required for further investigation (Jia and Shi, 2017). Moreover, three mutations that detected in this study are novel mutations, and two of them occurred in intronic regions. These findings expanded the variant diversity of LINCLs. Ethics Statement This study was carried out is approved by Capital Medical University Beijing Children's Hospital Ethics Committee. The protocol was approved by the Capital Medical University Beijing Children's Hospital Ethics Committee. All subjects gave written informed consent in accordance with the Declaration of Helsinki. Consent for Publication The patient's parents gave ...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research

Related Links:

This article reviews implications of cannabis use for defendants' eligibility and participation in problem-solving courts, with a focus on adult drug courts and mental health courts. This article also examines a range of policies, such as abstinence-based, tolerance-based, and adaptive approaches, that problem-solving courts may consider implementing. Further research is needed to characterize existing problem-solving court policies toward cannabis use and to develop evidence-based practices that courts may follow. PMID: 31533992 [PubMed - as supplied by publisher]
Source: Journal of the American Academy of Psychiatry and the Law - Category: Medical Law Tags: J Am Acad Psychiatry Law Source Type: research
In this study, we investigate the time-frequency analysis (TFA) method, together with the wavelet filtering of the Daubechies method and the relative power spectrum analysis of the Fourier Welch method to extract and analyse the TRBA caused by the 2008 Wenchuan Ms 8.0 earthquake and the TRA of the 2013 Minxian-Zhangxian Ms 6.6 earthquake using data concerning the brightness temperature of a black body (TBB) from the Fengyun-2 series of geostationary meteorological satellites developed by China. The result showed that this method can effectively extract and analyse the TRBA caused by the Wenchuan earthquake and the TRA of t...
Source: Advances in Space Research - Category: Science Source Type: research
Source: Journal of Computational and Theoretical Nanoscience - Category: Nanotechnology Authors: Tags: research-article Source Type: research
Authors: Shoar S, Naderan M, Mahmoodzadeh H, Shoar N, Lotfi D Abstract Introduction: Night Eating Syndrome (NES) refers to an abnormal eating behavior which presents as evening hyperphagia consuming>25% calorie intake and/or nocturnal awaking with food ingestion which occurs ≥2 times per week. Although the syndrome has been described more than seven decades ago, the literature has been growing slowly on its etiology, diagnosis, and treatment. Areas covered: The proposed treatment options for NES are all at a case-study level. Moreover, our understanding of its etiology, comorbidities, and diagnosis is still p...
Source: Expert Review of Endocrinology and Metabolism - Category: Endocrinology Tags: Expert Rev Endocrinol Metab Source Type: research
Conclusions: The largest profiles of differentially expressed proteins in EAT and SAT between CAD patients and non-CAD patients were identified. The significant signal pathways, mitochondrial dysfunction, and LXR/RXR activation, which differential proteins were involved in, were firstly found to play roles in EAT of CAD patients, and clusterin was firstly found to be upregulated in EAT of CAD patients. PMID: 31534454 [PubMed]
Source: International Journal of Endocrinology - Category: Endocrinology Tags: Int J Endocrinol Source Type: research
Conclusion The present study showed that high plasma glucose levels and severe liver fibrosis stage influence insulin secretion levels in Japanese patients with NAFLD. Conservation of delayed insulin secretion levels was confirmed in patients with severe liver fibrosis. PMID: 31534089 [PubMed - as supplied by publisher]
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Authors: Hosoda T, Uehara Y, Naito T Abstract Patients with HIV infection represent a high-risk group for medication overdose because of the high frequency of complicating psychiatric disorders. Raltegravir is well-known for its low frequency of adverse effects. We herein report a 42-year-old Japanese man with HIV infection who was hospitalized 6 hours after overdosing with 24,000 mg of raltegravir in a suicide attempt. No serious adverse events occurred, although the plasma concentration of raltegravir at 18 hours after the overdose was 79,871.1 ng/mL. Raltegravir may be well-indicated for HIV patients at risk of ...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Conclusion The rate of subjects who underwent HCV screening and DAA treatment was not high, especially in the younger generation, in Saga Prefecture. This group should be targeted for HCV screening and treatment. PMID: 31534084 [PubMed - as supplied by publisher]
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Authors: Numata T, Miura K, Akaishi T, Arita R, Ishizawa K, Saito N, Sasaki H, Kikuchi A, Takayama S, Tobita M, Ishii T Abstract We herein report the case of a 14-year-old girl who had been experiencing chronic fatigue, febricula, and social withdrawal for 20 months. No notable abnormalities were identified during routine checkups at a general pediatric hospital; symptomatic treatments did not affect her condition. She was diagnosed with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). Based on the concepts of Japanese traditional medicine, she was administered shosaikoto-based treatment. After several ...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Authors: Fukushima K, Yanagisawa N, Sekiya N, Izumiya H Abstract Non-typhoidal Salmonella (NTS) infection is a major pathogen causing gastroenteritis among immunocompetent adults. NTS infection is mainly transmitted by contaminated food and water, but some cases are transmitted by animal contact. Salmonella enterica subsp. enterica serovar Poona (S. Poona) is an NTS usually transmitted by reptiles, and cases including outbreaks of gastroenteritis have been reported previously. However, invasive infections due to this organism among immunocompetent adults are rare. We herein report a case of a 39-year-old man who wa...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
More News: Academia | Adenoviruses | Argentina Health | Ataxia | Australia Health | Biology | Bone Marrow Transplant | Brain | Child Development | Children | China Health | Clinical Trials | Cytology | Databases & Libraries | Epilepsy | Finland Health | Gene Therapy | Genetics | Greece Health | History of Medicine | India Health | Japan Health | Medical Ethics | Men | Middle East Health | Mitochondrial Disease | Molecular Biology | Neurology | Neurosurgery | Pakistan Health | Palliative | Palliative Care | Pathology | Pediatrics | Perinatology & Neonatology | Pregnancy | Rare Diseases | Reproduction Medicine | Saudi Arabia Health | Sleep Disorders | Sleep Medicine | Sodium | Stem Cell Therapy | Stem Cells | Study | Topamax | Transplants | Turkey Health | University of Washington | USA Health | Vitamin A