keyword
MENU ▼
Read by QxMD icon Read
search

medical genetic

keyword
https://www.readbyqxmd.com/read/29161523/does-acute-propranolol-treatment-prevent-posttraumatic-stress-disorder-anxiety-and-depression-in-children-with-burns
#1
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/29161410/autonomy-affinity-and-the-assessment-of-damages-acb-v-thomson-medical-pte-ltd-2017-sgca-20-and-shaw-v-kovak-2017-ewca-civ-1028
#2
Craig Purshouse
In ACB v Thomson Medical Pte Ltd [2017] SGCA 20 and Shaw v Kovak [2017] EWCA Civ 1028, the idea that 'lost autonomy' should be recognised as a new form of actionable damage in the tort of negligence was rejected in Singapore and England, respectively. This, it will be argued, was the correct outcome. Protecting an interest in autonomy via the tort of negligence would undermine the coherence of that tort. In ACB, however, a new, different, form of damage was recognised: loss of 'genetic affinity'. This commentary will discuss some problems that protecting an interest in 'genetic affinity' raises before critiquing the approach to assessing damages in ACB...
November 17, 2017: Medical Law Review
https://www.readbyqxmd.com/read/29160301/new-insights-into-the-pharmacogenomics-of-antidepressant-response-from-the-gendep-and-star-d-studies-rare-variant-analysis-and-high-density-imputation
#3
C Fabbri, K E Tansey, R H Perlis, J Hauser, N Henigsberg, W Maier, O Mors, A Placentino, M Rietschel, D Souery, G Breen, C Curtis, L Sang-Hyuk, S Newhouse, H Patel, M Guipponi, N Perroud, G Bondolfi, M O'Donovan, G Lewis, J M Biernacka, R M Weinshilboum, A Farmer, K J Aitchison, I Craig, P McGuffin, R Uher, C M Lewis
Genome-wide association studies have generally failed to identify polymorphisms associated with antidepressant response. Possible reasons include limited coverage of genetic variants that this study tried to address by exome genotyping and dense imputation. A meta-analysis of Genome-Based Therapeutic Drugs for Depression (GENDEP) and Sequenced Treatment Alternatives to Relieve Depression (STAR*D) studies was performed at the single-nucleotide polymorphism (SNP), gene and pathway levels. Coverage of genetic variants was increased compared with previous studies by adding exome genotypes to previously available genome-wide data and using the Haplotype Reference Consortium panel for imputation...
November 21, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/29160033/discordant-fetal-phenotype-of-hypophosphatasia-in-two-siblings
#4
Satoru Ikenoue, Kei Miyakoshi, Tomohiro Ishii, Yu Sato, Toshimitsu Otani, Yohei Akiba, Yoshifumi Kasuga, Daigo Ochiai, Tadashi Matsumoto, Yosuke Ichihashi, Yohei Matsuzaki, Kanako Tachikawa, Toshimi Michigami, Gen Nishimura, Kazushige Ikeda, Tomonobu Hasegawa, Mamoru Tanaka
Hypophosphatasia (HPP) is an autosomal recessive metabolic disorder with impaired bone mineralization due to mutations in the ALPL gene. The genotype-phenotype correlation of this disorder has been widely described. Here, we present two affected siblings, whose fetal phenotypes were discordant. A 31-year-old Japanese woman, G0P0, was referred to our institution because of fetal micromelia. After obstetric counseling, the pregnancy was terminated at 21 weeks' gestation. Post-mortem radiographs demonstrated severely defective mineralization of the skeleton...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159838/eys-mutation-update-in-silico-assessment-of-271-reported-and-26-novel-variants-in-patients-with-retinitis-pigmentosa
#5
Muriël Messchaert, Lonneke Haer-Wigman, Muhammad I Khan, Frans P M Cremers, Rob W J Collin
Mutations in Eyes shut homolog (EYS) are one of the most common causes of autosomal recessive (ar) retinitis pigmentosa (RP), a progressive blinding disorder. The exact function of the EYS protein and the pathogenic mechanisms underlying EYS-associated RP are still poorly understood, which hampers the interpretation of the causality of many EYS variants discovered to date. We collected all reported EYS variants present in 377 arRP index cases published before June 2017, and uploaded them in the Leiden Open Variation Database (www...
November 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/29159559/cerberus-an-access-control-scheme-for-enforcing-least-privilege-in-patient-cohort-study-platforms-a-comprehensive-access-control-scheme-applied-to-the-genida-project-study-of-genetic-forms-of-intellectual-disabilities-and-autism-spectrum-disorders
#6
Pierre Parrend, Timothée Mazzucotelli, Florent Colin, Pierre Collet, Jean-Louis Mandel
Cohort Study Platforms (CSP) are emerging as a key tool for collecting patient information, providing new research data, and supporting family and patient associations. However they pose new ethics and regulatory challenges since they cross the gap between patients and medical practitioners. One of the critical issues for CSP is to enforce a strict control on access privileges whilst allowing the users to take advantage of the breadth of the available data. We propose Cerberus, a new access control scheme spanning the whole life-cycle of access right management: design, implementation, deployment and maintenance, operations...
November 16, 2017: Journal of Medical Systems
https://www.readbyqxmd.com/read/29158769/physicians-duty-to-recontact-and-update-genetic-advice
#7
Yvonne A Stevens, Grant D Senner, Gary E Marchant
This perspective addresses whether physicians have a duty to recontact former or current patients to update clinical advice based on newly discovered genomic information. Genetic information is unique compared with other medical data in that the underlying data do not appreciably change during the patients' lifetime, but the clinical significance of that information will continue to evolve. Based on relevant case law and guidelines, there is no general, established legal duty for physicians to affirmatively recontact former or current patients to update clinical advice based on newly discovered genetic information...
2017: Personalized Medicine
https://www.readbyqxmd.com/read/29158581/improved-ethical-guidance-for-the-return-of-results-from-psychiatric-genomics-research
#8
G Lázaro-Muñoz, M S Farrell, J J Crowley, D M Filmyer, R A Shaughnessy, R C Josiassen, P F Sullivan
There is an emerging consensus that genomic researchers should, at a minimum, offer to return to individual participants clinically valid, medically important and medically actionable genomic findings (for example, pathogenic variants in BRCA1) identified in the course of research. However, this is not a common practice in psychiatric genetics research. Furthermore, psychiatry researchers often generate findings that do not meet all of these criteria, yet there may be ethically compelling arguments to offer selected results...
November 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29157945/food-allergy-a-review-and-update-on-epidemiology-pathogenesis-diagnosis-prevention-and-management
#9
Scott H Sicherer, Hugh A Sampson
This review provides general information to serve as a primer for those embarking on understanding food allergy and also details advances and updates in epidemiology, pathogenesis, diagnosis and treatment that have occurred over the four years since our last comprehensive review. Although firm prevalence data are lacking, there is a strong impression that food allergy has increased, and rates as high as ∼10% have been documented. Genetic, epigenetic and environmental risk factors are being increasingly elucidated, opening the potential for improved prevention and treatment strategies targeted to those at risk...
November 17, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29156830/fbn3-gene-involved-in-pathogenesis-of-a-chinese-family-with-bardet-biedl-syndrome
#10
Yun Wang, Abir Garraoui, Liuzhi Zeng, Mingying Lai, Fen He, Huaizhou Wang, Chongyi Jiang, Yulan Chen, Lanlan Dai, Ning Fan, Huanming Yang, Jianguo Zhang, Xuyang Liu
Purpose: This study was designed to evaluate the molecular genetics of a Chinese family with Bardet-Biedl syndrome (BBS). Methods: All the family members underwent medical history evaluation, ophthalmologic and physical examinations. Whole exome sequencing was performed on two affected individuals and their parents. All variants were verified in all family members by PCR amplification and Sanger sequencing. Results: Patients in this family were diagnosed as Bardet-Biedl syndrome, with an inheritance pattern of autosomal recessive...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29156452/an-international-consortium-update-pathophysiology-diagnosis-and-treatment-of-polycystic-ovarian-syndrome-in-adolescence
#11
Lourdes Ibáñez, Sharon E Oberfield, Selma F Witchel, Richard J Auchus, R Jeffrey Chang, Ethel Codner, Preeti Dabadghao, Feyza Darendeliler, Nancy Samir Elbarbary, Alessandra Gambineri, Cecilia Garcia Rudaz, Kathleen M Hoeger, Abel López-Bermejo, Ken Ong, Alexia S Peña, Thomas Reinehr, Nicola Santoro, Manuel Tena-Sempere, Rachel Tao, Bulent O Yildiz, Haya Alkhayyat, Asma Deeb, Dipesalema Joel, Reiko Horikawa, Francis de Zegher, Peter A Lee
This paper represents an international collaboration of paediatric endocrine and other societies (listed in the Appendix) under the International Consortium of Paediatric Endocrinology (ICPE) aiming to improve worldwide care of adolescent girls with polycystic ovary syndrome (PCOS)1. The manuscript examines pathophysiology and guidelines for the diagnosis and management of PCOS during adolescence. The complex pathophysiology of PCOS involves the interaction of genetic and epigenetic changes, primary ovarian abnormalities, neuroendocrine alterations, and endocrine and metabolic modifiers such as anti-Müllerian hormone, hyperinsulinemia, insulin resistance, adiposity, and adiponectin levels...
November 13, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29156427/a-longitudinal-analysis-of-the-effects-of-neuroticism-and-extraversion-on-subjective-well-being-in-patients-with-schizophrenia
#12
Floor A van Dijk, Frederike Schirmbeck, Lieuwe de Haan
One in five patients with a psychotic disorder has persistent low subjective well-being (SWB), which is associated with a poorer prognosis. In schizophrenia patients, personality traits are associated with SWB. The present study aims to evaluate whether neuroticism and extraversion influence SWB in patients with a psychotic disorder and healthy controls over the course of time. In 186 patients and 126 healthy control subjects, SWB was measured with the Subjective Well-being under Neuroleptics-20 (SWN) scale at baseline, three years and six years...
November 8, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/29155372/gut-feeling-researchers-are-discovering-a-link-between-depression-and-gut-bacteria
#13
Mary Bates
The human gut is home to an abundant and diverse community of microbes–each of us carries roughly 100 trillion, representing more than 1,000 different species. The composition of one?s gut microbiota is individually specific, dynamic, and influenced by genetics, diet, age, metabolism, medication use, stress, and geography. These bacteria perform a range of necessary and beneficial functions, including breaking down our food and supporting our immune systems.
November 2017: IEEE Pulse
https://www.readbyqxmd.com/read/29155068/a-noncanonical-poly-a-rna-polymerase-gene-affects-morphology-in-phoma-medicaginis
#14
Kihyuck Choi, Stephen M Marek
Phoma medicaginis (syn. Ascochyta medicaginicola Qchen &L. Cai) causes spring black stem and leaf spot, an important disease of alfalfa and annual medics. P. medicaginis forms uninucleate conidia in melanized pycnidia and is genetically tractable using Agrobacterium mediated transformation (ATMT), resulting in random integration of T-DNA that occasionally generates pycnidial mutants. The T-DNA tagged mutant, P265 displayed smaller pycnidia and more aerial hyphae than the wild type. A single T-DNA disrupted a putative noncanonical poly(A) RNA polymerase gene, Pmncpap1, which in yeast interacts with ribonucleotide reductase (RNR)...
November 15, 2017: Fungal Genetics and Biology: FG & B
https://www.readbyqxmd.com/read/29155005/effects-of-genetic-and-environmental-risk-for-schizophrenia-on-hippocampal-activity-and-psychosis-like-behavior-in-mice
#15
Daniel Scott, Carol A Tamminga
Schizophrenia is a serious mental illness most notably characterized by psychotic symptoms. In humans, psychotic disorders are associated with specific hippocampal pathology. However, animal model systems for psychosis often lack this pathology, and have been weak in providing a representation of psychosis. We utilized a double-risk model system combining genetic risk with environmental stress. We hypothesized these factors will induce hippocampal subfield pathology consistent with human findings, as well as behavioral phenotypes relevant to psychosis...
November 15, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/29154853/standards-and-guidelines-for-validating-next-generation-sequencing-bioinformatics-pipelines-a-joint-recommendation-of-the-association-for-molecular-pathology-and-the-college-of-american-pathologists
#16
REVIEW
Somak Roy, Christopher Coldren, Arivarasan Karunamurthy, Nefize S Kip, Eric W Klee, Stephen E Lincoln, Annette Leon, Mrudula Pullambhatla, Robyn L Temple-Smolkin, Karl V Voelkerding, Chen Wang, Alexis B Carter
Bioinformatics pipelines are an integral component of next-generation sequencing (NGS). Processing raw sequence data to detect genomic alterations has significant impact on disease management and patient care. Because of the lack of published guidance, there is currently a high degree of variability in how members of the global molecular genetics and pathology community establish and validate bioinformatics pipelines. Improperly developed, validated, and/or monitored pipelines may generate inaccurate results that may have negative consequences for patient care...
November 17, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29154842/delay-in-an-eating-disorder-diagnosis-the-reason-was-a-shox
#17
Amy B Middleman, Sara Reed, Kelly A Curran
BACKGROUND: Patients' underlying medical conditions may impact the presentation and progression of an eating disorder. CASE: We describe a patient with an undiagnosed, rare, genetic skeletal dysplasia with effects on body mass index that likely led to body image distortion and delayed the diagnosis of an eating disorder. SUMMARY: It is critical to assess disordered eating fully in the context of each patient's clinical status.
November 14, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/29150902/wieacker-wolff-syndrome-with-associated-cleft-palate-in-a-female-case
#18
Natalie D Godfrey, Samandar Dowlatshahi, Madelena M Martin, Douglas M Rothkopf
Wieacker-Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. It is traditionally described in males as an X-linked recessive disorder associated with congenital contractures of the feet, progressive neurologic muscular atrophy, and intellectual delay caused by ZC4H2 mutations. The purpose of this paper is to present a female individual with a classic phenotype and cleft palate, a previously undescribed finding in this syndrome. Recent reports have demonstrated that females are rarely severely affected and phenotypic expression is difficult to predict [Zanzottera et al...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29150824/legislation-of-direct-to-consumer-genetic-testing-in-europe-a-fragmented-regulatory-landscape
#19
L Kalokairinou, H C Howard, S Slokenberga, E Fisher, M Flatscher-Thöni, M Hartlev, R van Hellemondt, J Juškevičius, J Kapelenska-Pregowska, P Kováč, L Lovrečić, H Nys, A de Paor, A Phillips, L Prudil, E Rial-Sebbag, C M Romeo Casabona, J Sándor, A Schuster, S Soini, K H Søvig, D Stoffel, T Titma, T Trokanas, P Borry
Despite the increasing availability of direct-to-consumer (DTC) genetic testing, it is currently unclear how such services are regulated in Europe, due to the lack of EU or national legislation specifically addressing this issue. In this article, we provide an overview of laws that could potentially impact the regulation of DTC genetic testing in 26 European countries, namely Austria, Belgium, Cyprus, the Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Italy, Latvia, Lithuania, Luxembourg, Norway, Poland, Portugal, Romania, Slovakia, Slovenia, Spain, Sweden, the Netherlands and the United Kingdom...
November 18, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29150284/the-displacing-foods-of-modern-commerce-are-the-primary-and-proximate-cause-of-age-related-macular-degeneration-a-unifying-singular-hypothesis
#20
Chris A Knobbe, Marija Stojanoska
Age-related macular degeneration (AMD) is the leading cause of irreversible vision loss and blindness in developed nations. AMD is anticipated to affect 196 million people worldwide, by 2020. However, the etiology of this disease remains unknown. Aging, genetic, and environmental influences have generally been implicated as major etiologic factors. We sought to examine the hypothesis that consumption of the 'displacing foods of modern commerce,' which equate to processed, nutrient-deficient and potentially toxic foods, may be the primary and proximate cause of AMD...
November 2017: Medical Hypotheses
keyword
keyword
100075
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"