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https://www.readbyqxmd.com/read/28103626/nonalcoholic-fatty-liver-disease-in-adolescents-and-young-adults-the-next-frontier-in-the-epidemic
#1
REVIEW
Iliana Doycheva, Kymberly D Watt, Naim Alkhouri
Nonalcoholic fatty liver disease (NAFLD) is a significant health burden in adolescents and young adults (AYAs) with substantial rise in prevalence over the last decades. This parallels high rates of obesity and metabolic syndrome in this age group, with unhealthy lifestyle also playing an independent role. Genetic factors, gender, and ethnicity should be considered in a risk stratification model. NAFLD and nonalcoholic steatohepatitis (NASH) in AYAs often go unrecognized and if untreated, can progress eventually to cirrhosis requiring liver transplantation before the age of 40...
January 19, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28102861/clinical-utility-of-next-generation-sequencing-for-inherited-bone-marrow-failure-syndromes
#2
Hideki Muramatsu, Yusuke Okuno, Kenichi Yoshida, Yuichi Shiraishi, Sayoko Doisaki, Atsushi Narita, Hirotoshi Sakaguchi, Nozomu Kawashima, Xinan Wang, Yinyan Xu, Kenichi Chiba, Hiroko Tanaka, Asahito Hama, Masashi Sanada, Yoshiyuki Takahashi, Hitoshi Kanno, Hiroki Yamaguchi, Shouichi Ohga, Atsushi Manabe, Hideo Harigae, Shinji Kunishima, Eiichi Ishii, Masao Kobayashi, Kenichi Koike, Kenichiro Watanabe, Etsuro Ito, Minoru Takata, Miharu Yabe, Seishi Ogawa, Satoru Miyano, Seiji Kojima
PURPOSE: Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential for precise clinical decision making. METHODS: We analyzed 121 IBMFS patients using a targeted sequencing covering 184 associated genes and 250 IBMFS patients using whole-exome sequencing (WES). RESULTS: We achieved successful genetic diagnoses for 53 of 121 patients (44%) using targeted sequencing and for 68 of 250 patients (27%) using WES...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102512/anti-phospholipid-syndrome-associated-with-schizophrenia-description-of-five-patients-and-review-of-the-literature
#3
Pikman Regina, Rotman Pnina, Aiman Natur, Levy Yair
Anti-phospholipid syndrome is an autoimmune disorder characterized by anti-phospholipid antibodies, arterial and venous thrombosis, pregnancy morbidity, and various neurological manifestations including psychiatric disorders. Higher incidence of various autoimmune disorders was found in schizophrenia. In addition, an association between the presence of anti-phospholipid antibodies and schizophrenia or psychosis was previously described, mainly as case reports. Although initially believed to be a result of neuroleptic treatment, the reasons for this association remain obscure...
January 19, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28102463/marked-differences-of-haplotype-tagging-snp-distribution-linkage-and-haplotype-profile-of-apoa5-gene-in-roma-population-samples
#4
Katalin Sumegi, Balazs Duga, Bela I Melegh, Zsolt Banfai, Erzsebet Kovesdi, Anita Maasz, Bela Melegh
Roma people are underprivileged, neglected population worldwide, with severe healthcare problems. They have significantly increased prevalence of cardiovascular morbidity, presumably related to their poor social status, alcohol consumption and smoking habits. Assuming that genetic background also plays a role in their susceptibility for cardiovascular diseases, we hypothesized that APOA5 gene polymorphisms, an important role-player in lipid metabolism and in the development of metabolic syndrome and cardio/cerebrovascular events, may also be involved...
January 19, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28102337/deep-brain-stimulation-for-myoclonus-dystonia-syndrome-with-double-mutations-in-dyt1-and-dyt11
#5
Jia-Wei Wang, Ji-Ping Li, Yun-Peng Wang, Xiao-Hua Zhang, Yu-Qing Zhang
Myoclonus-dystonia syndrome (MDS) is a rare autosomal dominant inherited disorder characterized by the presentation of both myoclonic jerks and dystonia. Evidence is emerging that deep brain stimulation (DBS) may be a promising treatment for MDS. However, there are no studies reporting the effects of DBS on MDS with double mutations in DYT1 and DYT11. Two refractory MDS patients with double mutations were treated between 2011 and 2015 in our center. Genetic testing for DYT1 and DYT11 was performed through polymerase chain reaction amplification and direct sequencing of the specific exons of genes...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28102232/aetiology-and-management-of-hereditary-aortopathy
#6
REVIEW
Aline Verstraeten, Ilse Luyckx, Bart Loeys
Aortic aneurysms are a major health problem because they account for 1-2% of all deaths in the Western population. Although abdominal aortic aneurysms (AAAs) are more prevalent than thoracic aortic aneurysms (TAAs), TAAs have been more exhaustively studied over the past 2 decades because they have a higher heritability and affect younger individuals. Gene identification in both syndromic and nonsyndromic TAA is proceeding at a rapid pace and has already pinpointed >20 genes associated with familial TAA risk...
January 19, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28102197/a-novel-dominant-gjb2-dfna3-mutation-in-a-chinese-family
#7
Hongyang Wang, Kaiwen Wu, Lan Yu, Linyi Xie, Wenping Xiong, Dayong Wang, Jing Guan, Qiuju Wang
To decipher the phenotype and genotype of a Chinese family with autosomal dominant non-syndromic hearing loss (ADNSHL) and a novel dominant missense mutation in the GJB2 gene (DFNA3), mutation screening of GJB2 was performed on the propositus from a five-generation ADNSHL family through polymerase chain reaction amplification and Sanger sequencing. The candidate variation and the co-segregation of the phenotype were verified in all ascertained family members. Targeted genes capture and next-generation sequencing (NGS) were performed to explore additional genetic variations...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28102151/pleiotropic-genetic-effects-influencing-sleep-and-neurological-disorders
#8
REVIEW
Olivia J Veatch, Brendan T Keenan, Philip R Gehrman, Beth A Malow, Allan I Pack
Research evidence increasingly points to the large impact of sleep disturbances on public health. Many aspects of sleep are heritable and genes influencing traits such as timing, EEG characteristics, sleep duration, and response to sleep loss have been identified. Notably, large-scale genome-wide analyses have implicated numerous genes with small effects on sleep timing. Additionally, there has been considerable progress in the identification of genes influencing risk for some neurological sleep disorders. For restless legs syndrome, implicated variants are typically in genes associated with neuronal development...
February 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28102150/ultra-rare-genetic-variation-in-common-epilepsies-a-case-control-sequencing-study
#9
(no author information available yet)
BACKGROUND: Despite progress in understanding the genetics of rare epilepsies, the more common epilepsies have proven less amenable to traditional gene-discovery analyses. We aimed to assess the contribution of ultra-rare genetic variation to common epilepsies. METHODS: We did a case-control sequencing study with exome sequence data from unrelated individuals clinically evaluated for one of the two most common epilepsy syndromes: familial genetic generalised epilepsy, or familial or sporadic non-acquired focal epilepsy...
February 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28102009/detection-of-equine-herpesvirus-ehv-1-2-4-and-5-in-ethiopian-equids-with-and-without-respiratory-problems-and-genetic-characterization-of-ehv-2-and-ehv-5-strains
#10
H Negussie, D Gizaw, L Tesfaw, Y Li, K Oguma, H Sentsui, T S Tessema, H J Nauwynck
Infections with equine herpesviruses (EHVs) are widespread in equine populations worldwide. Whereas both EHV-1 and EHV-4 produce well-documented respiratory syndromes in equids, the contribution of EHV-2 and EHV-5 to disease of the respiratory tract is still enigmatic. This study describes the detection and genetic characterization of EHVs from equids with and without clinical respiratory disease. Virus-specific PCRs were used to detect EHV-1, -2, -4 and -5. From the total of 160 equids with respiratory disease, EHV-5 was detected at the highest prevalence (23...
January 18, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/28101821/prevalence-and-characteristics-of-patients-with-suspected-inherited-renal-cell-cancer-application-of-the-acmg-nsgc-genetic-referral-guidelines-to-patient-cohorts
#11
Hong Truong, Sarah E Hegarty, Leonard G Gomella, William K Kelly, Edouard J Trabulsi, Costas D Lallas, Veda N Giri
Patients with suspected hereditary renal cell cancer (RCC) are under-referred for genetic evaluation. Characterizing the prevalence and characteristics of suspected inherited RCC is a crucial step toward advancing personalized, genetically-based cancer risk management for patients and their families. To evaluate the prevalence and characteristics of suspected inherited RCC syndromes based on consensus criteria, we performed a cross-sectional analysis of patients with a diagnosis of RCC in SEER (2001-2011, n = 105,754) and in our institutional cancer registry (2004-2013, n = 998)...
January 19, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28101769/childhood-absence-epilepsy-and-benign-epilepsy-with-centro-temporal-spikes-a-narrative-review-analysis
#12
REVIEW
Alberto Verrotti, Renato D'Alonzo, Victoria Elisa Rinaldi, Sara Casciato, Alfredo D'Aniello, Giancarlo Di Gennaro
BACKGROUND: Recent studies have shown a possible coexistence of absence seizures with other forms of epilepsy. The purpose of this study was to ascertain the possible contemporary or subsequent presence of childhood absence epilepsy (CAE) and benign epilepsy with centro-temporal spikes (BECTS) in pediatric epileptic patients. METHODS: A PubMed systematic search indexed for MEDLINE, PubMed and EMBASE was undertaken to identify studies in children including articles written between 1996 and 2015...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28101432/atypical-hemolytic-uremic-syndrome-in-first-trimester-pregnancy-successfully-treated-with-eculizumab
#13
Gabriela Andries, Michael Karass, Srikanth Yandrapalli, Katherine Linder, Delong Liu, John Nelson, Rahul Pawar, Savneek Chugh
BACKGROUND: Atypical hemolytic uremic syndrome is a rare disorder which is known to cause acute thrombotic microangiopathy during pregnancy with poor maternal and fetal outcomes. Atypical hemolytic uremic syndrome is caused mostly by dysregulation of alternative complement pathway secondary to genetic mutations. Most of the cases reported have been in the post-partum period. We report a rare case of a patient who presents with thrombotic microangiopathy in the first trimester of her eleventh pregnancy and was successfully treated with eculizumab...
2017: Experimental Hematology & Oncology
https://www.readbyqxmd.com/read/28100913/genome-wide-association-study-using-the-ethnicity-specific-japonica-array-identification-of-new-susceptibility-loci-for-cold-medicine-related-stevens-johnson-syndrome-with-severe-ocular-complications
#14
Mayumi Ueta, Hiromi Sawai, Ryosei Shingaki, Yusuke Kawai, Chie Sotozono, Kaname Kojima, Kyung-Chul Yoon, Mee Kum Kim, Kyoung Yul Seo, Choun-Ki Joo, Masao Nagasaki, Shigeru Kinoshita, Katsushi Tokunaga
A genome-wide association study (GWAS) for cold medicine-related Stevens-Johnson syndrome (CM-SJS) with severe ocular complications (SOC) was performed in a Japanese population. A recently developed ethnicity-specific array with genome-wide imputation that was based on the whole-genome sequences of 1070 unrelated Japanese individuals was used. Validation analysis with additional samples from Japanese individuals and replication analysis using samples from Korean individuals identified two new susceptibility loci on chromosomes 15 and 16...
January 19, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28100847/genetic-background-of-aberrant-thermogenin-expression-ucp1-in-obesity-leading-to-metabolic-syndrome
#15
Małgorzata Stosio, Agata Witkowicz, Anna Kowalska, Lidia Karabon
Cardiovascular and metabolic disturbances individually and interdependently lead to chronic pathological conditions observed in cardio-metabolic diseases (CMDs). In Europe, the morbidity and mortality caused by cardiovascular disease are the highest among all diseases. Therefore, it seems important to search for new and alternative therapies for obesity, which is the main cause of type 2 diabetes (T2D) and cardiovascular disease (CD). Great attention has been paid to the role of brown adipose tissue in fat burning and the possibility of transformation of the white adipose tissue to cells with brown adipose tissue function as a potential form of treatment of obesity...
December 31, 2016: Postȩpy Higieny i Medycyny Doświadczalnej
https://www.readbyqxmd.com/read/28100419/redox-dysregulation-immuno-inflammatory-alterations-and-genetic-variants-of-bdnf-and-mmp-9-in-schizophrenia-pathophysiological-and-phenotypic-implications
#16
Fahmy T Ali, Eman M Abd El-Azeem, Marwa A Hamed, Mohamed A M Ali, Nour M Abd Al-Kader, Ekrami A Hassan
BACKGROUND: Although a clear mechanism underlying the pathophysiology of schizophrenia (SZ) remains elusive, oxidative stress, inflammatory syndrome and immune activation have become an attractive hypothesis for explaining the pathophysiology of SZ. Data from prior studies on the role of matrix metalloproteinase 9 (MMP-9) and brain-derived neurotrophic factor (BDNF) single nucleotide polymorphisms (SNPs) in SZ are contradictory. We aimed to investigate whether oxidative stress, inflammatory and immune activation markers as well as MMP-9 levels may be implicated in SZ pathogenesis...
January 15, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28100272/bibliometric-analysis-of-literature-on-toxic-epidermal-necrolysis-and-stevens-johnson-syndrome-1940-2015
#17
Waleed M Sweileh
BACKGROUND: Stevens Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare but fatal adverse skin reactions that affect all age groups. In order to better understand literature on this topic, we conducted a bibliometric study using Scopus database to shed light on number and growth of publications, most active countries, institutions, journals and authors involved in publishing articles in this field, citation analysis, top cited articles, international collaboration, role of medications and genetic association...
January 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28100071/neck-tongue-syndrome-a-systematic-review
#18
Amy A Gelfand, Hannah Johnson, Marc Ep Lenaerts, Jessica R Litwin, Charles De Mesa, Nikolai Bogduk, Peter J Goadsby
Objective Neck-Tongue syndrome (NTS) is characterized by brief attacks of neck or occipital pain, or both, brought out by abrupt head turning and accompanied by ipsilateral tongue symptoms. As the disorder is rare, we undertook a systematic review of the literature to identify all reported cases in order to phenotype clinically the disorder and subsequently inform clinical diagnostic criteria. Methods Two electronic databases were searched using the search term "neck tongue syndrome". All English language references were reviewed in full...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28100023/frontotemporal-lobar-degeneration-pathogenesis-pathology-and-pathways-to-phenotype
#19
REVIEW
David Ma Mann, Julie S Snowden
Frontotemporal Lobar Degeneration (FTLD) is a clinically, pathologically and genetically heterogeneous group of disorders that affect principally the frontal and temporal lobes of the brain. There are three major associated clinical syndromes, behavioural variant frontotemporal dementia (bvFTD), semantic dementia (SD) and progressive non-fluent aphasia (PNFA); three principal histologies, involving tau, TDP-43 and FUS proteins; and mutations in three major genes, MAPT, GRN and C9orf72, along with several other less common gene mutations...
January 18, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28099615/do-you-know-this-syndrome-dyspigmentation-along-the-blaschko-lines-caused-by-trisomy-7-mosaicism
#20
Miguel Pinto de Gouveia, Inês Coutinho, Vera Teixeira, Renata d'Oliveira, Margarida Venâncio, Ana Moreno
Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosaicism, which can explain this pigmentary phenotype. Widespread dyspigmentation associated with involvement of other organs should prompt systemic examination to detect additional anomalies and genetic evaluation should be considered, even with normal fetal karyotype...
November 2016: Anais Brasileiros de Dermatologia
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