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Clinical genetics

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https://www.readbyqxmd.com/read/29161691/failure-to-thrive-in-the-context-of-carney-complex
#1
Amit Tirosh, Adi Auerbach, Belen Bonella, Phaedon D Zavras, Elena Belyavskaya, Charalampos Lyssikatos, Karen Meir, Ram Weiss, Hagit Daum, Maya B Lodish, David Gillis, Constantine A Stratakis
BACKGROUND/AIMS: Carney complex (CNC) is a rare syndrome associated with multiple tumors and several other unique manifestations. We describe the clinical, genetic, and laboratory findings in a cohort of patients with CNC and failure to thrive (FTT). METHODS: A retrospective case series of pediatric patients with CNC presenting with FTT. RESULTS: We describe a patient with infantile Cushing syndrome (CS) who presented with severe FTT and liver disease; the patient was subsequently diagnosed with CNC...
November 21, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29161613/molecular-characterization-of-urothelial-carcinoma-of-the-bladder-and-upper-urinary-tract
#2
Ji Yun Lee, Kyung Kim, Hyun Hwan Sung, Hwang Gyun Jeon, Byong Chang Jeong, Seong Il Seo, Seong Soo Jeon, Hyun Moo Lee, Han-Yong Choi, Ghee-Young Kwon, Kyoung-Mee Kim, Jeeyun Lee, Ho Yeong Lim, Se Hoon Park
PURPOSE: A better understanding of the molecular basis of urothelial carcinoma (UC) is needed to refine the clinical decision-making process. METHODS AND MATERIALS: We performed next-generation sequencing to investigate the mutational and transcriptional profiles of commonly mutated genes in UC using Ampliseq v2. Copy number variations (CNVs) were detected with nCounter assay. Genetic alterations between upper tract UC (UTUC) and urinary bladder UC (UBUC) were compared...
November 18, 2017: Translational Oncology
https://www.readbyqxmd.com/read/29161523/does-acute-propranolol-treatment-prevent-posttraumatic-stress-disorder-anxiety-and-depression-in-children-with-burns
#3
Laura Rosenberg, Marta Rosenberg, Sherri Sharp, Christopher R Thomas, Helen F Humphries, Charles E Holzer, David N Herndon, Walter J Meyer
OBJECTIVE: This study examined whether acute propranolol treatment prevented posttraumatic stress disorder (PTSD), anxiety, and depression in children hospitalized in the pediatric intensive care unit for large burns. We hypothesized that the prevalence of PTSD, anxiety, and depression would be significantly less in the propranolol than nonpropranolol groups. METHODS: Children who had previously participated in a randomized controlled clinical trial of acute propranolol and nonpropranolol controls were invited to participate in long-term follow-up interviews...
November 21, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/29161398/role-of-gabaa-receptor-subtypes-in-the-behavioural-effects-of-intravenous-general-anaesthetics
#4
C J Weir, S J Mitchell, J J Lambert
Since the introduction of general anaesthetics into clinical practice, researchers have been mystified as to how these chemically disparate drugs act to produce their dramatic effects on central nervous system function and behaviour. Scientific advances, particularly during the last 25 years, have now begun to reveal the molecular mechanisms underpinning their behavioural effects. For certain i.v. general anaesthetics, such as etomidate and propofol, a persuasive case can now be made that the GABAA receptor, a major inhibitory receptor in the mammalian central nervous system, is an important target...
December 1, 2017: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/29161300/brca1-and-brca2-mutational-profile-and-prevalence-in-hereditary-breast-and-ovarian-cancer-hboc-probands-from-southern-brazil-are-international-testing-criteria-appropriate-for-this-specific-population
#5
Bárbara Alemar, Cleandra Gregório, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ida Vanessa D Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey Weitzel, Patricia Ashton-Prolla
BACKGROUND: Germline pathogenic variants in BRCA1 and BRCA2 (BRCA) are the main cause of Hereditary Breast and Ovarian Cancer syndrome (HBOC). METHODS: In this study we evaluated the mutational profile and prevalence of BRCA pathogenic/likely pathogenic variants among probands fulfilling the NCCN HBOC testing criteria. We characterized the clinical profile of these individuals and explored the performance of international testing criteria. RESULTS: A pathogenic/likely pathogenic variant was detected in 19...
2017: PloS One
https://www.readbyqxmd.com/read/29160764/dna-methylation-profile-in-chronic-myelomonocytic-leukemia-associates-with-distinct-clinical-biological-and-genetic-features
#6
Laura Palomo, Roberto Malinverni, Marta Cabezón, Blanca Xicoy, Montserrat Arnan, Rosa Coll, Helena Pomares, Olga García, Francisco Fuster-Tormo, Javier Grau, Evarist Feliu, Francesc Solé, Marcus Buschbeck, Lurdes Zamora
Chromosomal abnormalities are detected in 20-30% of patients with chronic myelomonocytic leukemia (CMML) and correlate with prognosis. On the mutation level, disruptive alterations are particularly frequent in chromatin regulatory genes. However, little is known about the consequential alterations in the epigenetic marking of the genome. Here, we report the analysis of genomic DNA methylation patterns of 64 CMML patients and 10 healthy controls, using a DNA methylation microarray focused on promoter regions...
November 21, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/29160561/can-overnight-stenting-be-safely-eliminated-following-a-pharyngeal-flap-a-matched-comparison-study
#7
Andre M Wineland, Jareen Meinzen-Derr, Paul Willging
OBJECTIVE: Determine if overnight stenting is warranted after pharyngeal flap for management of velopharyngeal insufficiency (VPI) in pediatric patients METHODS: This is a retrospective age-matched cohort study from a single tertiary pediatric facility. Patients who underwent a posterior pharyngeal flap for VPI from January 1, 2013, to December 31, 2016, were included. Two equal groups were constructed based on when their nasal stents were removed, that is, postoperative day (POD) 0 or POD 1...
November 21, 2017: Laryngoscope
https://www.readbyqxmd.com/read/29160103/integration-site-analysis-in-gene-therapy-patients-expectations-and-reality
#8
Luca Biasco
Integration site analysis is one of the major tools for addressing the safety of gene therapy clinical protocols based on the use of integrating vectors. Over the past years, the study of viral insertions in gene therapy treated patients has allowed identifying insertional mutagenesis events, evaluating the safety of new viral vector platforms and tracking the in vivo clonal dynamics of genetically engineered cell products. While gene therapy is progressively expanding its impact on a broader area of clinical applications, increasingly more accessible, faster and more reliable safety readouts are required from integration site analysis...
November 21, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/29160035/mosaic-uniparental-disomy-results-in-gm1-gangliosidosis-with-normal-enzyme-assay
#9
Kenneth A Myers, Mark F Bennett, Chung W Chow, Susan M Carden, Simone A Mandelstam, Melanie Bahlo, Ingrid E Scheffer
Inherited metabolic disorders are traditionally diagnosed using broad and expensive panels of screening tests, often including invasive skin and muscle biopsy. Proponents of next-generation genetic sequencing have argued that replacing these screening panels with whole exome sequencing (WES) would save money. Here, we present a complex patient in whom WES allowed diagnosis of GM1 gangliosidosis, caused by homozygous GLB1 mutations, resulting in β-galactosidase deficiency. A 10-year-old girl had progressive neurologic deterioration, macular cherry-red spot, and cornea verticillata...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29160006/kaufman-oculocerebrofacial-syndrome-novel-ube3b-mutations-and-clinical-features-in-four-unrelated-patients
#10
Rüstem Yilmaz, Katalin Szakszon, Anna Altmann, Umut Altunoglu, Leyli Senturk, Marianne McGuire, Olga Calabrese, Suneeta Madan-Khetarpal, Lina Basel-Vanagaite, Guntram Borck
The "blepharophimosis-mental retardation" syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes, where short palpebral fissures and intellectual disability associate with a distinct set of other morphological features. Kaufman oculocerebrofacial syndrome represents a rare and recently reevaluated entity within the BMR syndromes and is caused by biallelic mutations of UBE3B. Affected individuals typically show microcephaly, impaired somatic growth, gastrointestinal and genitourinary problems, ectodermal anomalies and a characteristic face with short, upslanted palpebral fissures, depressed nasal bridge...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159998/summary-of-the-first-inaugural-joint-meeting-of-the-international-consortium-for-scoliosis-genetics-and-the-international-consortium-for-vertebral-anomalies-and-scoliosis-march-16-18-2017-dallas-texas
#11
Philip F Giampietro, Olivier Pourquie, Cathy Raggio, Shiro Ikegawa, Peter D Turnpenny, Ryan Gray, Sally L Dunwoodie, Christina A Gurnett, Benjamin Alman, Kenneth Cheung, Kenro Kusumi, Nancy Hadley-Miller, Carol A Wise
Scoliosis represents the most common musculoskeletal disorder in children and affects approximately 3% of the world population. Scoliosis is separated into two major phenotypic classifications: congenital and idiopathic. Idiopathic scoliosis is defined as a curvature of the spine of 10° or greater visualized on plane radiograph and does not have associated vertebral malformations (VM). "Congenital" scoliosis (CS) due to malformations in vertebrae is frequently associated with other birth defects. Recently, significant advances have been made in understanding the genetic basis of both conditions...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159982/temple-syndrome-as-a-differential-diagnosis-to-prader-willi-syndrome-identifying-three-new-patients
#12
Asgeir Lande, Mette Kroken, Kai Rabben, Lars Retterstøl
The two imprinting syndromes Temple syndrome (TS14) and Prader-Willi syndrome (PWS) share many features in infancy and childhood. TS14 is an important, yet often neglected, differential diagnosis to PWS. We wanted to assess the frequency of TS14 among patients tested for PWS. In all samples submitted to our lab for genetic PWS testing during 2014 and 2015, we consecutively conducted additional analyses for TS14. A total of 143 samples were included. The most frequent indications for testing were developmental delay, overweight, and hypotonia...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159939/marked-yield-of-re-evaluating-phenotype-and-exome-target-sequencing-data-in-33-individuals-with-intellectual-disabilities
#13
Bing Xiao, Wenjuan Qiu, Xing Ji, Xiaoqing Liu, Zhuo Huang, Huili Liu, Yanjie Fan, Yan Xu, Yu Liu, Hui Yie, Wei Wei, Hui Yan, Zhuwen Gong, Lixiao Shen, Yu Sun
The diagnosis of intellectual disability/developmental delay (ID/DD) benefits from the clinical application of target/exome sequencing. The yield in Mendelian diseases varies from 25% to 68%. The aim of the present study was to identify the genetic causes of 33 ID/DD patients using target/exome sequencing. Recent studies have demonstrated that reanalyzing undiagnosed exomes could yield additional diagnosis. Therefore, in addition to the normal data analysis, in this study, re-evaluation was performed prior to manuscript preparation after updating OMIM annotations, calling copy number variations (CNVs) and reviewing the current literature...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159826/pharmacological-and-molecular-approaches-for-the-treatment-of-%C3%AE-hemoglobin-disorders
#14
REVIEW
Neelam Lohani, Nupur Bhargava, Anjana Munshi, Sivaprakash Ramalingam
β-hemoglobin disorders, such as β-thalassemia and sickle cell anemia are among the most prevalent inherited genetic disorders worldwide. These disorders are caused by mutations in the gene encoding hemoglobin-β (HBB), a vital protein found in red blood cells (RBCs) that carries oxygen from lungs to all parts of the human body. As a consequence, there has been an enduring interest in this field in formulating therapeutic strategies for the treatment of these diseases. Currently, there is no cure available for hemoglobin disorders, although, some patients have been treated with bone marrow transplantation, whose scope is limited because of the difficulty in finding a histocompatible donor and also due to transplant-associated clinical complications that can arise during the treatment...
November 20, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29159708/mainstreaming-genetics-in-palliative-care-barriers-and-suggestions-for-clinical-genetic-services
#15
A Dearing, N Taverner
Palliative healthcare professionals (PHCPs) frequently do not refer their eligible patients for genetic testing. After the death of the affected individual, clinically relevant information for family members is lost. In previous research, PHCPs stated that the end-of-life setting is not appropriate to discuss genetic issues. It is unclear if this has changed due to increasing awareness of genetics in the media and efforts to mainstream genetic testing. Semi-structured interviews of PHCPs were analysed by thematic analysis...
November 20, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29159549/-diagnostics-of-wilson-s-disease
#16
REVIEW
W Hermann, D Huster
Wilson's disease is a rare genetic but treatable metabolic disorder which has a favorable prognosis when diagnosed early and treated adequately. Therefore, knowledge of this rare clinical condition and a reliable diagnosis are indispensable. The diagnostic work-up is initiated in cases of unexplained acute or chronic liver disease and/or an extrapyramidal motor disturbance occurring mostly between the 5th and 45th years of life. Manifestations with initial symptoms have occasionally been observed at an age younger than 1 year and later than 70 years...
November 20, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/29159471/evidence-for-genetic-overlap-between-adult-onset-still-s-disease-and-hereditary-periodic-fever-syndromes
#17
R Sighart, J Rech, A Hueber, N Blank, S Löhr, A Reis, H Sticht, U Hüffmeier
OBJECTIVE: Adult onset Still's disease (AOSD) is a severe, autoimmune disease that can be challenging to treat with conventional therapeutics and biologicals in a considerable number of cases. Therefore, there is a high need to understand its pathogenesis better. As major clinical symptoms overlap between AOSD and hereditary periodic fever syndromes (HPFS), we analysed four known HPFS genes in AOSD. METHODS: We performed Sanger sequencing and quantitative analysis of all coding regions of MEFV, TNFRSF1A, MVK and NLRP3 in 40 AOSD patients...
November 20, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29159460/compound-heterozygous-inheritance-of-mutations-in-coenzyme-q8a-results-in-autosomal-recessive-cerebellar-ataxia-and-coenzyme-q10-deficiency-in-a-female-sib-pair
#18
Jessie C Jacobsen, Whitney Whitford, Brendan Swan, Juliet Taylor, Donald R Love, Rosamund Hill, Sarah Molyneux, Peter M George, Richard Mackay, Stephen P Robertson, Russell G Snell, Klaus Lehnert
Autosomal recessive ataxias are characterised by a fundamental loss in coordination of gait with associated atrophy of the cerebellum. There is significant clinical and genetic heterogeneity amongst inherited ataxias; however, an early molecular diagnosis is essential with low-risk treatments available for some of these conditions. We describe two female siblings who presented early in life with unsteady gait and cerebellar atrophy. Whole exome sequencing revealed compound heterozygous inheritance of two pathogenic mutations (p...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29159459/epg5-related-vici-syndrome-a-primary-defect-of-autophagic-regulation-with-an-emerging-phenotype-overlapping-with-mitochondrial-disorders
#19
Shanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, Mark J Cowley, Velimir Gayevskiy, Carolyn M Sue, Caitlin Edwards, Edward Edkins, Reimar Junckerstorff, C Kiraly-Borri, P Rowe, J Christodoulou
Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29159201/interactions-between-retroviruses-and-the-host-cell-genome
#20
REVIEW
Valentina Poletti, Fulvio Mavilio
Replication-defective retroviral vectors have been used for more than 25 years as a tool for efficient and stable insertion of therapeutic transgenes in human cells. Patients suffering from severe genetic diseases have been successfully treated by transplantation of autologous hematopoietic stem-progenitor cells (HSPCs) transduced with retroviral vectors, and the first of this class of therapies, Strimvelis, has recently received market authorization in Europe. Some clinical trials, however, resulted in severe adverse events caused by vector-induced proto-oncogene activation, which showed that retroviral vectors may retain a genotoxic potential associated to proviral integration in the human genome...
March 16, 2018: Molecular Therapy. Methods & Clinical Development
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