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https://www.readbyqxmd.com/read/28449382/current-use-of-chromosomal-microarray-by-australian-paediatricians-and-implications-for-the-implementation-of-next-generation-sequencing
#1
Victoria McKay, Daryl Efron, Elizabeth E Palmer, Susan M White, Chris Pearson, Margie Danchin
AIM: Chromosomal microarray (CMA) is an important diagnostic test for children with multiple congenital anomalies or certain developmental behavioural problems suggestive of an underlying genetic diagnosis. However, there are medical and ethical complexities to its use and few Australian policies to guide practice. We aimed to describe the current practice of Australian paediatricians in relation to CMA testing. We hypothesised that there are knowledge gaps in their use of CMA. METHODS: Online survey completed between September 2015 and January 2016 by paediatricians in secondary care settings...
April 27, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28448786/microbiological-features-and-clinical-impact-of-the-type-vi-secretion-system-t6ss-in-acinetobacter-baumannii-isolates-causing-bacteremia
#2
Jungok Kim, Ji-Young Lee, Haejeong Lee, Ji Young Choi, Dae Hun Kim, Yu Mi Wi, Kyong Ran Peck, Kwan Soo Ko
We investigated the genetic background and microbiological features of T6SS-positive Acinetobacter baumannii isolates and clinical impact of the T6SS in patients with A. baumannii bacteremia. One hundred and sixty-two A. baumannii isolates from patients with bacteremia in two tertiary-care hospitals in Korea were included in this study. Approximately one-third (51/162, 31.5%) of the A. baumannii clinical isolates possessed the hcp gene, and the hcp-positive isolates were found in several genotypes in multilocus sequence typing...
April 27, 2017: Virulence
https://www.readbyqxmd.com/read/28448680/22q11-2-deletion-syndrome-lowers-seizure-threshold-in-adult-patients-without-epilepsy
#3
Robert G Wither, Felippe Borlot, Alex MacDonald, Nancy J Butcher, Eva W C Chow, Anne S Bassett, Danielle M Andrade
OBJECTIVE: Previous studies examining seizures in patients with 22q11.2 deletion syndrome (22q11.2DS) have focused primarily on children and adolescents. In this study we investigated the prevalence and characteristics of seizures and epilepsy in an adult 22q11.2DS population. METHODS: The medical records of 202 adult patients with 22q11.2DS were retrospectively reviewed for documentation of seizures, electroencephalography (EEG) reports, and magnetic resonance imaging (MRI) findings...
April 27, 2017: Epilepsia
https://www.readbyqxmd.com/read/28448663/prame-as-a-potential-target-for-immunotherapy-in-metastatic-uveal-melanoma
#4
Gülçin Gezgin, Sietse J Luk, Jinfeng Cao, Mehmet Dogrusöz, Dirk M van der Steen, Renate S Hagedoorn, Daniëlle Krijgsman, Pieter A van der Velden, Matthew G Field, Gregorius P M Luyten, Karoly Szuhai, J William Harbour, Ekaterina S Jordanova, Mirjam H M Heemskerk, Martine J Jager
Importance: Uveal melanoma (UM) is an intraocular primary malignant neoplasm that often gives rise to metastatic disease for which there are no effective therapies. A substantial proportion of UMs express the cancer-testis antigen PRAME (preferentially expressed antigen in melanoma), which can potentially be targeted by adoptive T-cell therapy. Objective: To determine whether there may be a rationale for PRAME-directed T-cell therapy for metastatic UM. Design, Setting, and Participants: An experimental study using a retrospective cohort of 64 patients with UM (median follow-up, 62 months) was conducted from January 8, 2015, to November 20, 2016, at the Leiden University Medical Center...
April 27, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28448592/blood-type-abo-genetic-variants-and-ovarian-cancer-survival
#5
Gabriella D Cozzi, Rebecca T Levinson, Hilary Toole, Malcolm-Robert Snyder, Angie Deng, Marta A Crispens, Dineo Khabele, Alicia Beeghly-Fadiel
OBJECTIVE: Blood type A and the A1 allele have been associated with increased ovarian cancer risk. With only two small studies published to date, evidence for an association between ABO blood type and ovarian cancer survival is limited. METHODS: We conducted a retrospective cohort study of Tumor Registry confirmed ovarian cancer cases from the Vanderbilt University Medical Center with blood type from linked laboratory reports and ABO variants from linked Illumina Exome BeadChip data...
2017: PloS One
https://www.readbyqxmd.com/read/28446933/stress-as-a-factor-contributing-to-obesity-in-patients-qualified-for-bariatric-surgery-studies-in-a-selected-group-of-patients-a-pilot-study
#6
Iwona Boniecka, Helena Wileńska, Anna Jeznach-Steinhagen, Aneta Czerwonogrodzka-Senczyna, Marzena Sekuła, Krzysztof Paśnik
INTRODUCTION: Recently, the incidence of obesity, especially extreme obesity, has significantly increased. It is connected with inappropriate lifestyle, including a high calorie diet, psychological and genetic factors, some medications, diseases or infectious factors. Nowadays, the consumption of food is not only to satisfy a physiological need, but also fulfils psychological needs. The most effective method of morbid obesity treatment is metabolic surgery. Moreover, food is considered to be a reward and method of coping with stress...
2017: Wideochirurgia i Inne Techniki Mało Inwazyjne, Videosurgery and Other Miniinvasive Techniques
https://www.readbyqxmd.com/read/28446118/motor-neurone-disease-progress-and-challenges
#7
Thanuja Dharmadasa, Robert D Henderson, Paul S Talman, Richard Al Macdonell, Susan Mathers, David W Schultz, Merrillee Needham, Margaret Zoing, Steve Vucic, Matthew C Kiernan
Major progress has been made over the past decade in the understanding of motor neurone disease (MND), changing the landscape of this complex disease. Through identifying positive prognostic factors, new evidence-based standards of care have been established that improve patient survival, reduce burden of disease for patients and their carers, and enhance quality of life. These factors include early management of respiratory dysfunction with non-invasive ventilation, maintenance of weight and nutritional status, as well as instigation of a multidisciplinary team including neurologists, general practitioners and allied health professionals...
May 1, 2017: Medical Journal of Australia
https://www.readbyqxmd.com/read/28445878/differential-allelic-expression-of-htr1b-in-suicide-victims-genetic-and-epigenetic-effect-of-the-cis-acting-variants
#8
Ali Bani-Fatemi, Aaron Howe, Clement Zai, James L Kennedy, John Vincent, John Strauss, Albert Wong, Vincenzo De Luca
OBJECTIVES: In the present study, we tested the allelic imbalance of the C861G single nucleotide polymorphism (SNP) of HTR1B in the frontal cortex of suicide victims. METHODS: The study was conducted using 3 sets of samples. First, C861G allele-specific mRNA levels in the frontal cortex were compared between suicide (n = 13) and nonsuicide controls (n = 13) from the Stanley Medical Research postmortem brain collection. Second, we tested common variants in the HTR1B promoter for linkage disequilibrium (LD) with the C861G variant in an unrelated sample of suicide attempters (SA; n = 38) and non-SA (NSA; n = 42)...
April 27, 2017: Neuropsychobiology
https://www.readbyqxmd.com/read/28445615/status-epilepticus-in-dogs-and-cats-part-1-etiopathogenesis-epidemiology-and-diagnosis
#9
Susan Blades Golubovic, John H Rossmeisl
OBJECTIVE: To review current knowledge of the etiopathogenesis, diagnosis, and consequences of status epilepticus (SE) in veterinary patients. DATA SOURCES: Human and veterinary literature, including clinical and laboratory research and reviews. ETIOPATHOGENESIS: Status epilepticus is a common emergency in dogs and cats, and may be the first manifestation of a seizure disorder. It results from the failure of termination of an isolated seizure...
April 26, 2017: Journal of Veterinary Emergency and Critical Care
https://www.readbyqxmd.com/read/28445255/peutz-jeghers-syndrome-with-intermittent-upper-intestinal-obstruction-a-case-report-and-review-of-the-literature
#10
Shou-Xing Duan, Guang-Huan Wang, Jun Zhong, Wen-Hui Ou, Ma-Xian Fu, Fu-Sheng Wang, Shu-Hua Ma, Jian-Hong Li
RATIONALE: Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic syndrome characterized by a unique type of gastrointestinal hamartomatous polyp associated with oral and anal mucocutaneous pigmentations. Peutz-Jeghers polyps occur most numerously in the small intestine but frequently in the colon and stomach, only a few cases have been reported in the duodenum. PATIENT CONCERN: A further family history survey discovered 10 out of 14 members of the family (in 4 generations) had mucocutaneous pigmentations, but many of them were living in rural areas where they had no access to specialized medical services, so none were checked with endoscopy for polyps of hamartoma...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28444681/-wolf-hirschhorn-syndrome-description-of-a-spanish-cohort-of-51-cases-and-a-literature-review
#11
R Blanco-Lago, I Malaga-Dieguez, J J Granizo-Martinez, L Carrera-Garcia, P Barruz-Galian, P Lapunzina, J Nevado-Blanco, En Representacion Del Grupo Colaborativo Para El Estudio Del Sindrome de Wolf-Hirschhorn En Representacion Del Grupo Colaborativo Para El Estudio Del Sindrome de Wolf-Hirschhorn
INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that gives rise to multiple congenital anomalies, caused by the loss of a distal portion of the short arm of chromosome 4 (4p16.3). It is characterised by its own peculiar facial phenotype, associated to growth problems, psychomotor retardation and epilepsy. AIMS: To establish a register of patients with WHS in Spain, describe their characteristics, determine the prevalence of epilepsy, estimate the degree of psychomotor retardation and perform a review of the literature in order to compare these data with those published to date...
May 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28444381/evidence-for-very-recent-positive-selection-in-mongolians
#12
Kazuhiro Nakayama, Jun Ohashi, Kazuhisa Watanabe, Lkagvasuren Munkhtulga, Sadahiko Iwamoto
Mongols, the founders of the largest continental empire in history, successfully adapted to the harsh environments of Inner Asia through nomadic pastoralism. Considerable interest exists in ascertaining whether genetic adaptation also contributed to the Mongols' success, and dissecting the genome diversity of present-day populations in Mongolia can help address this question. To this end, we determined the genotypes of nearly 2.4 million single nucleotide polymorphisms (SNPs) of 96 unrelated Mongolian individuals in Ulaanbaatar city, and performed genome-wide scans for population-specific positive selection...
April 21, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28443263/a-1-month-old-infant-with-chylomicronemia-due-to-gpihbp1-gene-mutation-treated-by-plasmapheresis
#13
Mo Kyung Jung, Juhyun Jin, Hyun Ok Kim, Ahreum Kwon, Hyun Wook Chae, Seok Jin Kang, Duk Hee Kim, Ho-Seong Kim
Chylomicronemia is a severe type of hypertriglyceridemia characterized by chylomicron accumulation that arises from a genetic defect in intravascular lipolysis. It requires urgent and proper management, because serious cases can be accompanied by pancreatic necrosis or persistent multiple organ failure. We present the case of a 1-month-old infant with chylomicronemia treated by plasmapheresis. His chylomicronemia was discovered incidentally when lactescent plasma was noticed during routine blood sampling during a hospital admission for fever and irritability...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28442912/tumor-necrosis-factor-%C3%AE-and-%C3%AE-genetic-polymorphisms-as-a-risk-factor-in-saudi-patients-with-schizophrenia
#14
Saeed Kadasah, Misbahul Arfin, Sadaf Rizvi, Mohammed Al-Asmari, Abdulrahman Al-Asmari
BACKGROUND: Schizophrenia is one of the most common devastating psychiatric disorders that negatively affects the quality of life and psychosocial functions. Its etiology involves the interplay of complex polygenic influences and environmental risk factors. Inflammatory markers are well-known etiological factors for psychiatric disorders, including schizophrenia. OBJECTIVE: The aim of this study was to investigate the association of proinflammatory cytokine genes, tumor necrosis factor (TNF)-α (-308G/A) and TNF-β (+252A/G) polymorphisms with schizophrenia susceptibility...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28442439/marshall-smith-syndrome-novel-pathogenic-variant-and-previously-unreported-associations-with-precocious-puberty-and-aortic-root-dilatation
#15
Anjali Aggarwal, Joanne Nguyen, Michelle Rivera-Davila, David Rodriguez-Buritica
Marshall-Smith Syndrome (MRSHSS) is a very rare genetic disorder characterized by failure to thrive and characteristic dysmorphic features associated with accelerated osseous maturation. We present a nine-year-old girl who was diagnosed with MRSHSS based on characteristic clinical features supported by the identification of a novel de novo pathogenic variant in the NFIX gene. The patient also presented with precocious puberty diagnosed at five years of age and had an abnormal GnRH stimulation test indicative of central precocious puberty...
April 22, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28441660/the-phenotype-and-outcome-of-infantile-cardiomyopathy-caused-by-a-homozygous-elac2-mutation
#16
Zarghuna M A Shinwari, Abdulrahman Almesned, Ali Alakhfash, Ahmad M Al-Rashdan, Eissa Faqeih, Zainab Al-Humaidi, Ahmed Alomrani, Malak Alghamdi, Dilek Colak, Abdullah Alwadai, Monther Rababh, Majid Al-Fayyadh, Zuhair N Al-Hassnan
OBJECTIVE: Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified in more than 50 genes. Recently, mutations in the mitochondrial tRNA processing gene, ELAC2, were reported to be associated with the recessively inherited form of hypertrophic CMP (HCM). This study is aimed at describing the cardiac phenotype and outcome of ELAC2 mutation. METHODS: We performed whole exome sequencing followed by targeted mutation screening to identify the genetic etiology of severe infantile-onset CMP in 64 consanguineous Saudi families...
April 26, 2017: Cardiology
https://www.readbyqxmd.com/read/28440912/performance-of-in-silico-tools-for-the-evaluation-of-p16ink4a-cdkn2a-variants-in-cagi
#17
Marco Carraro, Giovanni Minervini, Manuel Giollo, Yana Bromberg, Emidio Capriotti, Rita Casadio, Roland Dunbrack, Lisa Elefanti, Pietro Fariselli, Carlo Ferrari, Julian Gough, Panagiotis Katsonis, Emanuela Leonardi, Olivier Lichtarge, Chiara Menin, Pier Luigi Martelli, Abhishek Niroula, Lipika R Pal, Susanna Repo, Maria Chiara Scaini, Mauno Vihinen, Qiong Wei, Qifang Xu, Yuedong Yang, Yizhou Yin, Jan Zaucha, Huiying Zhao, Yaoqi Zhou, Steven E Brenner, John Moult, Silvio C E Tosatto
Correct phenotypic interpretation of variants of unknown significance for cancer-associated genes is a diagnostic challenge as genetic screenings gain in popularity in the next-generation sequencing era. The Critical Assessment of Genome Interpretation (CAGI) experiment aims to test and define the state of the art of genotype-phenotype interpretation. Here, we present the assessment of the CAGI p16INK4a challenge. Participants were asked to predict the effect on cellular proliferation of ten variants for the p16INK4a tumor suppressor, a cyclin-dependent kinase inhibitor encoded by the CDKN2A gene...
April 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28440306/an-evaluation-of-factors-associated-with-pathogenic-prss1-spink1-ctfr-and-or-ctrc-genetic-variants-in-patients-with-idiopathic-pancreatitis
#18
Niloofar Y Jalaly, Robert A Moran, Farshid Fargahi, Mouen A Khashab, Ayesha Kamal, Anne Marie Lennon, Christi Walsh, Martin A Makary, David C Whitcomb, Dhiraj Yadav, Liudmila Cebotaru, Vikesh K Singh
OBJECTIVES: We evaluated factors associated with pathogenic genetic variants in patients with idiopathic pancreatitis. METHODS: Genetic testing (PRSS1, CFTR, SPINK1, and CTRC) was performed in all eligible patients with idiopathic pancreatitis between 2010 to 2015. Patients were classified into the following groups based on a review of medical records: (1) acute recurrent idiopathic pancreatitis (ARIP) with or without underlying chronic pancreatitis; (2) idiopathic chronic pancreatitis (ICP) without a history of ARP; (3) an unexplained first episode of acute pancreatitis (AP)<35 years of age; and (4) family history of pancreatitis...
April 25, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28439751/development-of-a-streamlined-work-flow-for-handling-patients-genetic-testing-insurance-authorizations
#19
Wendy R Uhlmann, Katie Schwalm, Victoria M Raymond
Obtaining genetic testing insurance authorizations for patients is a complex, time-involved process often requiring genetic counselor (GC) and physician involvement. In an effort to mitigate this complexity and meet the increasing number of genetic testing insurance authorization requests, GCs formed a novel partnership with an industrial engineer (IE) and a patient services associate (PSA) to develop a streamlined work flow. Eight genetics clinics and five specialty clinics at the University of Michigan were surveyed to obtain benchmarking data...
April 24, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28439664/women-at-familial-risk-of-breast-cancer-electing-for-prophylactic-mastectomy-frequencies-procedures-and-decision-making-characteristics
#20
Sarah Schott, Lisa Vetter, Monika Keller, Thomas Bruckner, Michael Golatta, Sabine Eismann, Nicola Dikow, Christina Evers, Christof Sohn, Joerg Heil
BACKGROUND: Some women of families at high risk of breast cancer (BC) choose prophylactic mastectomy (PM) in spite of ambiguous evidence for survival benefits. The aim of this study was to investigate counselees' characteristics, decisions on PM, and frequencies of different procedures to better understand how to tailor interventions. PATIENTS AND METHODS: Eight hundred and forty-nine counselees who attended interdisciplinary consultation for genetic risk adjustment at the University Hospital Heidelberg between July 2009 and July 2011 received a tripartite questionnaire addressing sociodemographic characteristics, psychological parameters, behavioural questions, and medical data...
April 24, 2017: Archives of Gynecology and Obstetrics
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