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https://www.readbyqxmd.com/read/28300276/reassessing-the-clinical-spectrum-associated-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-syndrome-in-french-fh-mutation-carriers
#1
Marie Muller, Sophie Ferlicot, Marine Guillaud-Bataille, Gwénaël Le Teuff, Catherine Genestie, Sophie Deveaux, Abdelhamid Slama, Nicolas Poulalhon, Bernard Escudier, Laurence Albiges, Nadem Soufir, Marie-Françoise Avril, Betty Gardie, Carolina Saldana, Yves Allory, Anne-Paule Gimenez-Roqueplo, Brigitte Bressac-de Paillerets, Stéphane Richard, Patrick R Benusiglio
We addressed uncertainties regarding Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) by exploring all French cases, representing the largest series to date. Fumarate Hydratase (FH) germline testing was performed with Sanger sequencing and qPCR/MLPA. Enzyme activity was measured when necessary. We carried out whenever possible a pathology review of RCC and S-(2-succino)-cysteine (2SC)/fumarate hydratase immunohistochemistry. We estimated survival using non-parametric Kaplan-Meier. There were 182 cases from 114 families...
March 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28298626/gain-of-function-mutation-p-arg225cys-in-scn11a-causes-familial-episodic-pain-and-contributes-to-essential-tremor
#2
Xue-Rong Leng, Xiao-Hong Qi, Yong-Tao Zhou, Yu-Ping Wang
Familial episodic pain is a rare autosomal-dominant disorder characterized by recurrent attacks of pain. The pathogenesis of familial episodic pain is not very clear so far. Essential tremor is the most common movement disorder, but the identification of essential tremor genes has remained elusive. We studied a four-generation Chinese family with early-onset familial episodic pain and adult onset familial essential tremor. All essential tremor diagnoses were confirmed based on a review of the questionnaires, videotaped neurological examinations and was then reconfirmed by a senior neurologist specializing in movement disorders using published criteria...
March 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28296734/genetic-anticipation-in-a-special-form-of-hypertrophic-cardiomyopathy-with-sudden-cardiac-death-in-a-family-with-74-members-across-5-generations
#3
Xiying Guo, Chaomei Fan, Yanping Wang, Miao Wang, Chi Cai, Yinjian Yang, Shihua Zhao, Fujian Duan, Yishi Li
Hypertrophic cardiomyopathy (HCM) is the most common heritable heart disease. The genetic anticipation of HCM and its associated etiology, sudden cardiac death (SCD), remains unclear. The aim of this study was to investigate the mechanism underlying the genetic anticipation of HCM and associated SCD.An HCM family including 5 generations and 74 members was studied. Two-dimensional echocardiography was performed to diagnose HCM. The age of onset of HCM was defined as the age at first diagnosis according to hospital records...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28291249/analysis-of-sod1-mutations-in-a-chinese-population-with-amyotrophic-lateral-sclerosis-a-case-control-study-and-literature-review
#4
QianQian Wei, QingQing Zhou, YongPing Chen, RuWei Ou, Bei Cao, YaQian Xu, Jing Yang, Hui-Fang Shang
Although the copper/zinc superoxide dismutase-1 (SOD1) gene has been identified in both familial ALS (FALS) and sporadic ALS (SALS), it has rarely been studied in Chinese patients with ALS, and there are few studies with large samples. This study sought to assess the prevalence of SOD1 mutations in Chinese ALS patients. We screened a cohort of 499 ALS patients (487 SALS and 12 FALS) from the Department of Neurology at the West China Hospital of Sichuan University and analyzed all coding exons of SOD1 by Sanger sequencing...
March 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28273706/-multiple-congenital-anomalies-hypotonia-seizures-syndrome-1-case-report-and-review-of-literature
#5
Y F Xu, N Li, G Q Li, X M Wang, Y F Zhou, L Yin, J Wang
Objective: To analyze and summarize the clinical and molecular characteristics of the patients with multiple congenital anomalies- hypotonia-seizures syndrome 1 (MCAHS 1). Method: Clinical data and test results were collected from a patient who was diagnosed with confirmed genetic basis of MCAHS 1 in Shanghai Children's Medical Center since December 2015. The patient and his parents were examined by the next generation sequencing (NGS) technology using peripheral blood genomic DNA, and the relevant mutations identified by NGS were verified with Sanger sequencing...
March 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28182618/the-evolving-landscape-of-hiv-drug-resistance-diagnostics-for-expanding-testing-in-resource-limited-settings
#6
Seth C Inzaule, Raph L Hamers, Roger Paredes, Chunfu Yang, Rob Schuurman, Tobias F Rinke de Wit
Global scale-up of antiretroviral treatment (ART) has dramatically changed the prospects of HIV/AIDS disease rendering life-long chronic care and treatment a reality for millions of HIV-infected patients. Affordable technologies to monitor ART are needed to ensure long-term durability of limited available drug regimens. HIV drug resistance tests can complement existing strategies in optimizing clinical decision-making for patients with treatment failure, in addition to facilitating population-based surveillance of HIV drug resistance...
February 9, 2017: AIDS Reviews
https://www.readbyqxmd.com/read/28173653/-coenzyme-q-10-treatment-for-one-child-with-coq6-gene-mutation-induced-nephrotic-syndrome-and-literature-review
#7
Q Cao, G M Li, H Xu, Q Shen, L Sun, X Y Fang, H M Liu, W Guo, Y H Zhai, B B Wu
Objective: To summarize the clinical manifestation and molecular characteristics of COQ6 mutation induced nephrotic syndrome, and to evaluate efficacy of CoQ(10) therapy. Method: Clinical data of the case with infantile nephrotic syndrome was summarized, including clinical manifestations, laboratory findings and family investigation. The patient received CoQ(10) 30 mg/(kg·d) therapy. Urine protein/creatinine ratio, serum albumin and creatinine were detected to assess the efficacy of the therapy. Result: (1) The 10 months old boy was presented with nephrotic level proteinuria and hypoalbuminemia...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28159677/clinicopathological-and-molecular-features-of-a-large-cohort-of-gastrointestinal-stromal-tumors-gists-and-review-of-the-literature-braf-mutations-in-kit-pdgfra-wildtype-gists-are-rare-events
#8
Sebastian Huss, Hlen Pasternack, Michaela Angelika Ihle, Sabine Merkelbach-Bruse, Birthe Heitkötter, Wolfgang Hartmann, Marcel Trautmann, Heidrun Gevensleben, Reinhard Büttner, Hans-Ulrich Schildhaus, Eva Wardelmann
In KIT/PDGFRA wild-type gastrointestinal stromal tumors (wt-GISTs), BRAF mutations are regarded as alternative pathogenic event driving tumorigenesis. In our study, we aimed at analyzing a large cohort (n=444) of GISTs for BRAF mutations using molecular and immunohistochemical methods. More than 3000 GIST samples from caucasian patients were available in our GIST and Sarcoma Registry NRW. Of these, we selected 172 wt-GISTs to evaluate the frequency of BRAF mutations. Furthermore, 272 GISTs with a representative KIT and PDGFRA mutational status were selected...
January 31, 2017: Human Pathology
https://www.readbyqxmd.com/read/28131193/the-heterozygous-r1441c-mutation-of-leucine-rich-repeat-kinase-2-gene-in-a-chinese-patient-with-parkinson-disease-a-five-year-follow-up-and-literatures-review
#9
Fang Peng, Yi-Min Sun, Chen Chen, Su-Shan Luo, Da-Ke Li, Yi-Xuan Wang, Ke Yang, Feng-Tao Liu, Chuan-Tao Zuo, Zheng-Tong Ding, Yu An, Jian-Jun Wu, Jian Wang
BACKGROUND: Leucine-rich repeat kinase 2 gene (LRRK2) was recognized associated with both familial and sporadic Parkinson Disease (PD). Seven missense mutations (G2019S, R1441C, R1441G, R1441H, Y1699C, I2020T, N1437H) of it have been confirmed disease- causing. They were common among Caucasian PD patients, but rarely reported in Asian, especially in Chinese Han population. OBJECTIVES: We aimed to identify the frequencies of these seven mutations of LRRK2 in Chinese early-onset PD (EOPD) patients and analyze the phenotypes...
February 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28105149/t-14-18-q32-q21-in-chronic-lymphocytic-leukemia-patients-report-of-two-cases-and-a-literature-review
#10
Weifeng Chen, Yi Miao, Rong Wang, Yujie Wu, Hairong Qiu, Wei Xu, Jianyong Li, Lei Fan, Xin Xu
The chromosomal abnormality t(14;18)(q32;q21) is most commonly associated with germinal center-derived B-cell lymphomas, particularly follicular lymphoma (FL). Generally, it is considered a hallmark of FL. The t(14;18)(q32;q21) translocation is rare in chronic lymphocytic leukemia (CLL) and its prognostic significance remains unclear. In the present study, two cases of CLL with t(14;18)(q32;q21) were diagnosed using conventional cytogenetic analysis and fluorescence in situ hybridization. Both patients presented with leukemia and the morphological features and immunophenotypes were typical of CLL...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28101802/cold-pcr-technologies-in-the-area-of-personalized-medicine-methodology-and-applications
#11
REVIEW
Florence Mauger, Alexandre How-Kit, Jörg Tost
Somatic mutations bear great promise for use as biomarkers for personalized medicine, but are often present only in low abundance in biological material and are therefore difficult to detect. Many assays for mutation analysis in cancer-related genes (hotspots) have been developed to improve diagnosis, prognosis, prediction of drug resistance, and monitoring of the response to treatment. Two major approaches have been developed: mutation-specific amplification methods and methods that enrich and detect mutations without prior knowledge on the exact location and identity of the mutation...
January 18, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28100407/pressure-ulcer-reconstruction-in-patients-with-heterotopic-ossification-after-spinal-cord-injury-a-case-series-and-review-of-literature
#12
REVIEW
Kai Yang, Alexander Graf, James Sanger
Heterotopic ossification (HO) is widely recognized as a common occurrence among patients suffering from traumatic spinal cord injuries (SCI). The exact etiology of HO formation remains unknown. Published medical and surgical management strategies are often plagued with questionable effectiveness and frequent complications. There are minimal publications regarding the management strategies of HO in SCI patients as it pertains to plastic surgery. We present a case series of patients treated at our institution who underwent treatment for pressure ulcers with underlying HO to highlight the vast spectrum of clinical phenotypes present in this population...
December 21, 2016: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28092281/renal-tubular-acidosis
#13
Fernando Santos, Helena Gil-Peña, Silvia Alvarez-Alvarez
PURPOSE OF REVIEW: To facilitate the understanding and knowledge of renal tubular acidosis by providing a summarized information on the known clinical and biochemical characteristics of this group of diseases, by updating the genetic and molecular bases of the primary forms renal tubular acidosis and by examining some issues regarding the diagnosis of distal renal tubular acidosis (RTA) in the daily clinical practice. RECENT FINDINGS: The manuscript presents recent findings on the potential of next-generation sequencing to disclose new pathogenic variants in patients with a clinical diagnosis of primary RTA and negative Sanger sequencing of known genes...
April 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28065771/risk-factors-for-30-day-readmission-in-adults-with-sickle-cell-disease
#14
Max A Brodsky, Mark Rodeghier, Maureen Sanger, Jeannie Byrd, Brandi McClain, Brittany Covert, Dionna O Roberts, Karina Wilkerson, Michael R DeBaun, Adetola A Kassim
BACKGROUND: Readmission to the hospital within 30 days is a measure of quality care; however, only few modifiable risk factors for 30-day readmission in adults with sickle cell disease are known. METHODS: We performed a retrospective review of the medical records of adults with sickle cell disease at a tertiary care center, to identify potentially modifiable risk factors for 30-day readmission due to vasoocclusive pain episodes. A total of 88 patients ≥18 years of age were followed for 3...
January 5, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28063898/the-association-of-the-rnf213-p-r4810k-polymorphism-with-quasi-moyamoya-disease-and-a-review-of-the-pertinent-literature
#15
Qian Zhang, Yaping Liu, Lebao Yu, Ran Duan, Yonggang Ma, Peicong Ge, Dong Zhang, Yan Zhang, Rong Wang, Shuo Wang, Yuanli Zhao, Yong Cao, Xingju Liu, Xiaofeng Deng, Jizong Zhao, Xue Zhang
BACKGROUND: Quasi-moyamoya disease (MMD) is characterized by moyamoya vasculopathy and well-recognized comorbidity. Whether the recently identified MMD susceptibility gene variant, p.R4810K (rs112735431), is associated with quasi-MMD remains unclear. METHODS: This study was a 2-hospital-based case-control study that was conducted in the neurosurgical departments of Beijing Tiantan Hospital and Peking University International Hospital. A total of 42 patients and 161 controls were enrolled...
March 2017: World Neurosurgery
https://www.readbyqxmd.com/read/27977834/high-resolution-adaptive-optics-retinal-image-analysis-at-early-stage-central-areolar-choroidal-dystrophy-with-prph2-mutation
#16
Kiyoko Gocho, Keiichiro Akeo, Naoko Itoh, Shuhei Kameya, Takaaki Hayashi, Satoshi Katagiri, Tamaki Gekka, Yasuhiro Ohkuma, Hiroshi Tsuneoka, Hiroshi Takahashi
BACKGROUND AND OBJECTIVE: To report the clinical features of Japanese patients at Stage 1 and 2 of central areolar choroidal dystrophy (CACD). PATIENTS AND METHODS: Five family members had comprehensive ophthalmic examinations including adaptive optics (AO) retinal imaging. Mutation analysis of the PRPH2 gene was performed by Sanger sequencing. The protocol conformed to the tenets of the Declaration of Helsinki and was approved by the institutional review board of The Jikei University School of Medicine...
December 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/27973417/applications-of-high-throughput-sequencing-for-in-vitro-selection-and-characterization-of-aptamers
#17
REVIEW
Nam Nguyen Quang, Gérald Perret, Frédéric Ducongé
Aptamers are identified through an iterative process of evolutionary selection starting from a random pool containing billions of sequences. Simultaneously to the amplification of high-affinity candidates, the diversity in the pool is exponentially reduced after several rounds of in vitro selection. Until now, cloning and Sanger sequencing of about 100 sequences was usually used to identify the enriched candidates. However, High-Throughput Sequencing (HTS) is now extensively used to replace such low throughput sequencing approaches...
December 10, 2016: Pharmaceuticals
https://www.readbyqxmd.com/read/27905264/biotin-thiamine-responsive-basal-ganglia-disease-catastrophic-consequences-of-delay-in-diagnosis-and-treatment
#18
Hussein Algahtani, Saeed Ghamdi, Bader Shirah, Bader Alharbi, Raghad Algahtani, Abdulrahman Bazaid
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene. The disease is characterized by subacute encephalopathy with confusion, dysphagia, dysarthria, and seizures. METHODS: We diagnosed a family affected by BTBGD and studied them including prognosis of cases when diagnosed and treated early in the disease process. We also review the literature comprehensively and summarize all published data about this disorder...
February 2017: Neurological Research
https://www.readbyqxmd.com/read/27896715/genome-sequencing
#19
Mansi Verma, Samarth Kulshrestha, Ayush Puri
Genome sequencing is an important step toward correlating genotypes with phenotypic characters. Sequencing technologies are important in many fields in the life sciences, including functional genomics, transcriptomics, oncology, evolutionary biology, forensic sciences, and many more. The era of sequencing has been divided into three generations. First generation sequencing involved sequencing by synthesis (Sanger sequencing) and sequencing by cleavage (Maxam-Gilbert sequencing). Sanger sequencing led to the completion of various genome sequences (including human) and provided the foundation for development of other sequencing technologies...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27884767/eif2ak4-mutations-in-patients-diagnosed-with-pulmonary-arterial-hypertension
#20
D Hunter Best, Kelli L Sumner, Benjamin P Smith, Kristy Damjanovich-Colmenares, Ikue Nakayama, Lynette M Brown, Youna Ha, Eleri Paul, Ashley Morris, Mohamed A Jama, Mark W Dodson, Pinar Bayrak-Toydemir, C Gregory Elliott
BACKGROUND: Differentiating pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH) from idiopathic or heritable pulmonary arterial hypertension (IPAH and HPAH) is important clinically. Mutations in eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) cause heritable PVOD and PCH whereas mutations in other genes cause HPAH. The aim of this study is to describe the frequency of pathogenic EIF2AK4 mutations in patients diagnosed clinically with IPAH or HPAH...
November 21, 2016: Chest
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