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medical genetic

Yi-Feng Carol Lan, Diane C Zelman, Wen-Tao Chao
Bipolar disorder (BD) affects a significant proportion of Taiwanese individuals (Weissman et al., 1996; Yang, Yeh, & Hwu, 2012). Psychotropic medications are typically the mainstay of treatment for BD, and there is an abundance of international research on biological etiology and medication options. However, there is comparatively little research on psychosocial aspects of BD, including how it is understood and managed within families. As culture provides the context in which psychiatric disease is managed, there is a need to identify distinct Chinese psychosocial perspectives that might shed light on intervention options...
January 1, 2018: Transcultural Psychiatry
Guang Yang, Jing Xu, Xiu-Lian Chi, Chun-Xin Zang, Ling Que
The three objectives of the Convention on Biological Diversity (CBD) are the conservation of biological diversity, the sustainable use of its components and the fair and equitable sharing of benefit sarising from the utilization of genetic resources.The Nagoya Protocol significantly advances the CBD's third objective by providing a strong basis for greater legal certainty and transparency for both providers and users of genetic resources.In June 2016, the Chinese government approved the accession to the Nagoya Protocol...
January 2018: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
R El Tannouri, E Albuisson, P Jonveaux, E Luporsi
Tumor characteristics are used today to evaluate the possibility of mutation and to target mutation screening in families with high risk of breast and/or ovarian cancer. We studied the breast tumor profile associated to the c.3481_3491del11 French founder effect mutation on the BRCA1 gene to an attempt to identify any particularity or difference when comparing it to that related to other BRCA1 mutations. Within the population who were referred to our oncogenetic clinic at the Lorraine Oncology Institute in France and who underwent genetic testing between 1994 and 2012, we identified 404 women carrying a BRCA1 mutation...
March 17, 2018: Familial Cancer
Justin Rueckert, Katherine Devitt, Juli-Anne Gardner
Renal cell carcinoma (RCC) is a malignancy commonly encountered by both clinicians and pathologists. Different RCC subtypes are classified based on histologic features, immunohistochemistry profiles, and cytogenetic abnormalities. Accurate diagnosis of subtypes is important as it has prognostic and therapeutic implications. The most common RCC subtype is clear cell renal cell carcinoma (CCRCC); the most frequent genetic abnormalities associated with CCRCC are a deletion of the short arm of chromosome 3 involving 3p21 and mutations involving the Von Hippel-Lindau (VHL) gene...
2018: Journal of the Association of Genetic Technologists
Arun Mitra
Despite ongoing tensions in various parts of the world, the year 2017 ended on a positive note. The Treaty Prohibiting Nuclear Weapons (TPNW) was passed by the UN General Assembly on July 7, 2017, which will always be a red-letter day in history. It has raised many hopes for a future world without nuclear weapons and staved off the impending humanitarian catastrophe. Good health is a basic need of every individual. Therefore, each person yearns for a life free of violence and free of man-made catastrophes like the ones at Hiroshima and Nagasaki in 1945, which killed over two hundred thousand people and resulted in genetic mutations affecting generations thereafter...
March 7, 2018: Indian Journal of Medical Ethics
Michelle A Farrar, Hooi Ling Teoh, Kate A Carey, Anita Cairns, Robin Forbes, Karen Herbert, Sandra Holland, Kristi J Jones, Manoj P Menezes, Margot Morrison, Kate Munro, Daniella Villano, Richard Webster, Ian R Woodcock, Eppie M Yiu, Hugo Sampaio, Monique M Ryan
BACKGROUND: Spinal muscular atrophy (SMA) is a devastating motor neuron disorder causing progressive muscle weakness and respiratory insufficiency. We present the initial Australian experiences implementing the expanded access programme (EAP) to enable preapproval access to nusinersen, the first disease-modifying therapy, for SMA type 1. METHODS: An Australian multicentre, open-label EAP for nusinersen enrolled patients with infantile-onset SMA type 1 from November 2016 to September 2017...
March 16, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
Hiroko Ejiri, Chang-Kweng Lim, Haruhiko Isawa, Ryosuke Fujita, Katsunori Murota, Tomomi Sato, Daisuke Kobayashi, Miki Kan, Masashi Hattori, Toshiya Kimura, Yukie Yamaguchi, Mutsuyo Takayama-Ito, Madoka Horiya, Guillermo Posadas-Herrera, Shohei Minami, Ryusei Kuwata, Hiroshi Shimoda, Ken Maeda, Yukie Katayama, Tetsuya Mizutani, Masayuki Saijo, Koki Kaku, Hiroto Shinomiya, Kyoko Sawabe
The genus Thogotovirus, as represented by Thogoto virus and Dhori virus, comprises a group of arthropod-borne viruses, most members of which are transmitted by ticks. Here we report the genetic and biological characterization of a new thogotovirus, designated Oz virus (OZV), isolated from the hard tick Amblyomma testudinarium in Ehime, Japan. OZV efficiently replicated and induced a cytopathic effect in Vero cells, from which enveloped pleomorphic virus particles were formed by budding. OZV could also replicate in BHK-21 and DH82 cells and caused high mortality in suckling mice after intracerebral inoculation...
March 13, 2018: Virus Research
Peng Jin
No abstract text is available yet for this article.
February 20, 2018: Journal of Genetics and Genomics, Yi Chuan Xue Bao
M Irani, N Zaninovic, C Canon, C O'Neill, V Gunnala, Q Zhan, G Palermo, D Reichman, Z Rosenwaks
STUDY QUESTION: Is there a benefit to assessing ploidy in delayed embryos reaching the morula stage on Day 6 of development? SUMMARY ANSWER: Day-6 morulae should be considered for biopsy in women <40 years old undergoing preimplantation genetic testing for aneuploidy (PGT-A) because they are associated with acceptable, albeit reduced, euploidy and implantation rates (IRs). WHAT IS KNOWN ALREADY: Embryo development and morphology have been shown to correlate with aneuploidy and pregnancy rates...
March 13, 2018: Human Reproduction
Filip Čtvrtlík, Pavel Koranda, Jan Schovánek, Jozef Škarda, Igor Hartmann, Zbyněk Tüdös
The topic of pheochromocytomas is becoming increasingly popular as a result of major advances in different medical fields, including laboratory diagnosis, genetics, therapy, and particularly in novel advances in imaging techniques. The present review article discusses current clinical, biochemical, genetic and histopathological aspects of the diagnosis of pheochromocytomas and planning of pre-surgical preparation and subsequent surgical treatment options. The main part of the paper is focused on the role of morphological imaging methods (primarily computed tomography and magnetic resonance imaging) and functional imaging (scintigraphy and positron emission tomography) in the diagnosis and staging of pheochromocytomas...
April 2018: Experimental and Therapeutic Medicine
Alexandra Colvin, Amanda F Saltzman, Jonathan Walker, Jennifer Bruny, Nicholas G Cost
Pheochromocytoma is a rare chromaffin cell tumor that is may be associated with a genetic predisposition, such as Von Hippel-Lindau (VHL) disease. VHL is an autosomal dominant disorder that is characterized by a predisposition to multiple tumors including retinal and central nervous system hemangioblastomas, renal cell carcinoma and pheochromocytomas. The classic presentation of pheochromocytoma is episodic hypertension, headaches, palpitations, and diaphoresis. In the pediatric population, 40% of pheochromocytomas have a hereditary basis...
March 12, 2018: Urology
David J Tester, Leonie C H Wong, Pritha Chanana, Amie Jaye, Jared M Evans, David R FitzPatrick, Margaret J Evans, Peter Fleming, Iona Jeffrey, Marta C Cohen, Jacob Tfelt-Hansen, Michael A Simpson, Elijah R Behr, Michael J Ackerman
BACKGROUND: Sudden infant death syndrome (SIDS) is a leading cause of postneonatal mortality. Genetic heart diseases (GHDs) underlie some cases of SIDS. OBJECTIVES: This study aimed to determine the spectrum and prevalence of GHD-associated mutations as a potential monogenic basis for SIDS. METHODS: A cohort of 419 unrelated SIDS cases (257 male; average age 2.7 ± 1.9 months) underwent whole exome sequencing and a targeted analysis of 90 GHD-susceptibility genes...
March 20, 2018: Journal of the American College of Cardiology
Renata C Gallagher, Laura Pollard, Anna I Scott, Suzette Huguenin, Stephen Goodman, Qin Sun
Disclaimer: These ACMG Standards are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards is voluntary and does not necessarily assure a successful medical outcome. These Standards should not be considered inclusive of all proper procedures and tests, or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Carol Cremin, Sarah Howard, Lyly Le, Aly Karsan, David F Schaeffer, Daniel Renouf, Kasmintan A Schrader
Background: Approximately 5% to 10% of pancreatic ductal adenocarcinoma (PDAC) has a hereditary basis. In most of these defined hereditary cancer syndromes, PDAC is not the predominant cancer type. Traditional criteria for publicly funded genetic testing typically require the presence of a set combination of the predominant syndrome-associated cancer types in the family history.We report the identification of a CDKN2A pathogenic variant in a PDAC-prone family without the cutaneous features of multiple moles or melanoma that are characteristic of the Familial Atypical Multiple Mole Melanoma (FAMMM) Syndrome identified in a universal testing algorithm for inherited mutations in pancreatic cancer patients...
2018: Hereditary Cancer in Clinical Practice
Hannah Y P Phoon, Hazilawati Hussin, Baizurah Mohd Hussain, Shu Yong Lim, Jia Jie Woon, Yi Xian Er, Kwai Lin Thong
OBJECTIVES: Hospital environments are potential reservoirs of bacteria associated with nosocomial infections. Here, we determined the distribution of cultivable environmental bacteria of clinical importance from a Malaysian tertiary hospital and to investigate their resistotypes and genotypes. METHODS: Swab and fluid samples (n=358) from healthcare workers' hands, frequently touched surfaces, medical equipment, patients' immediate surroundings, ward sinks and toilets and solutions or fluids of 12 selected wards were collected...
March 11, 2018: Journal of Global Antimicrobial Resistance
C Krausz, Francesca Cioppi, Antoni Riera-Escamilla
Male infertility affects about 7% of the general male population, and it is a multifactorial, polygenic pathological condition. Known genetic factors, accounting for about 20-25% of male factor infertility, are present in each etiological category: i) hypothalamic-pituitary axis dysfunction; ii) quantitative and qualitative alterations of spermatogenesis; iii) ductal obstruction/dysfunction. Areas covered: All routinely available genetic tests are described. Indication for testing for chromosomal anomalies and Y chromosome microdeletions is based on sperm count (severe oligozoospermia/azoospermia)...
March 15, 2018: Expert Review of Molecular Diagnostics
Carsten Schwarz, Patrick Vandeputte, Amandine Rougeron, Sandrine Giraud, Thomas Dugé de Bernonville, Ludovic Duvaux, Amandine Gastebois, Ana Alastruey-Izquierdo, Maria Teresa Martín-Gomez, Estrella Martin Mazuelos, Amparo Sole, Josep Cano, Javier Pemán, Guillermo Quindos, Françoise Botterel, Marie-Elisabeth Bougnoux, Sharon Chen, Laurence Delhaès, Loïc Favennec, Stéphane Ranque, Ludwig Sedlacek, Joerg Steinmann, Jose Vazquez, Craig Williams, Wieland Meyer, Solène Le Gal, Gilles Nevez, Maxime Fleury, Nicolas Papon, Françoise Symoens, Jean-Philippe Bouchara
Cystic fibrosis (CF) is the major genetic inherited disease in Caucasian populations. The respiratory tract of CF patients displays a sticky viscous mucus, which allows for the entrapment of airborne bacteria and fungal spores and provides a suitable environment for growth of microorganisms, including numerous yeast and filamentous fungal species. As a consequence, respiratory infections are the major cause of morbidity and mortality in this clinical context. Although bacteria remain the most common agents of these infections, fungal respiratory infections have emerged as an important cause of disease...
April 1, 2018: Medical Mycology: Official Publication of the International Society for Human and Animal Mycology
Ilia Korvigo, Andrey Afanasyev, Nikolay Romashchenko, Mikhail Skoblov
Many automatic classifiers were introduced to aid inference of phenotypical effects of uncategorised nsSNVs (nonsynonymous Single Nucleotide Variations) in theoretical and medical applications. Lately, several meta-estimators have been proposed that combine different predictors, such as PolyPhen and SIFT, to integrate more information in a single score. Although many advances have been made in feature design and machine learning algorithms used, the shortage of high-quality reference data along with the bias towards intensively studied in vitro models call for improved generalisation ability in order to further increase classification accuracy and handle records with insufficient data...
2018: PloS One
Eirwen M Miller, Joan Tymon-Rosario, Howard D Strickler, Xianhong Xie, Xiaonan Xue, Dennis Y S Kuo, Sharmila K Makhija, Nicole S Nevadunsky
OBJECTIVE: The aim of this study was to evaluate the racial/ethnic disparities in ovarian cancer survival in a diverse population. METHODS: We performed a retrospective cohort study evaluating all patients with epithelial ovarian cancer who received primary treatment at Montefiore Medical Center from 2005 to 2015. Clinicopathologic and survival data were abstracted from medical records. Two-sided statistical analyses were performed using SAS 9.3. RESULTS: Three hundred forty-four evaluable patients were identified: 85 (25%) black, 107 (31%) white, 74 (21%) Hispanic, and 78 (23%) other...
March 14, 2018: International Journal of Gynecological Cancer
Sanne L N Brouns, Johanna P van Geffen, Johan W M Heemskerk
In recent years, considerable progress has been made in understanding the mechanisms involved in platelet activation during hemostasis and thrombosis. Parallel-plate flow chambers and other microfluidic devices have markedly contributed to this insight. Conversely, such flow devices are now increasingly used to monitor the combined processes of platelet aggregation, thrombus formation, and coagulation in human blood. Currently, by combining microspotting and multi-color fluorescence microscopy, this technology offers the capability of high-throughput measurement of platelet activation processes, even in small blood samples...
March 14, 2018: Platelets
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