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https://www.readbyqxmd.com/read/28551957/statins-and-breastfeeding-in-familial-hypercholesterolaemia
#1
Solveig Thorp Holmsen, Tina Bakkebø, Maria Seferowicz, Kjetil Retterstøl
No abstract text is available yet for this article.
May 2017: Tidsskrift for Den Norske Lægeforening: Tidsskrift for Praktisk Medicin, Ny Række
https://www.readbyqxmd.com/read/28551940/-oxalate-stones-are-prevalent-among-druze-and-muslim-arabs-in-the-galilee
#2
Limor Kalfon, Irit Weissman, Miriam Hershkovits, Nadra Nasser Samra, Nurit Edri, Morad Khayat, Mary Tanus, Shihab Shihab, Hanna Mandel, Tzipora Falik-Zaccai
INTRODUCTION: Primary Hyperoxaluria type I (PH1) is a rare autosomal recessive disease caused by lack or dysfunction of the liver peroxisomal enzyme alanine: glyoxylate aminotransferase, AGT. AIMS: To conduct clinical and genetic characterization of Druze and Muslim Arab patients with PH1 in Northern Israel. METHODS: In the last 20 years, 36 children and families were diagnosed and treated in the Nephrology-Genetic Clinic at the Galilee Medical Center...
March 2017: Harefuah
https://www.readbyqxmd.com/read/28551938/-horizontal-canal-benign-paroxysmal-positional-vertigo-hc-bppv-clinical-diagnostic-procedures
#3
REVIEW
Oz Zur, Ophir Ilan, Hadas Ben-Rubi Shimron, Eli Carmeli
Horizontal canal benign paroxysmal positional vertigo (HCBPPV) is one form of benign paroxysmal positional vertigo. HC-BPPV is characterized by intermittent recurrent episodes of vertigo following a change in head position relative to gravity. HC-BPPV prevalence ranges from 5%-33% of all dizziness cases seen in otolaryngology, neurology and family physician clinics. Various factors, such as ear and head injury, can cause HC-BPPV. Cardiovascular disease and iatrogenic reasons are also implicated. Despite the prevalence of the disease, there are various forms of diagnostic procedures, some of which are unfamiliar to the therapist and some are controversial...
March 2017: Harefuah
https://www.readbyqxmd.com/read/28551919/-utilization-of-whole-exome-sequencing-in-diagnostics-of-genetic-disease-rabin-medical-center-s-experience
#4
Lior Cohen, Naama Orenstein, Monica Weisz-Hubshman, Lily Bazak, Bella Davidov, Eyal Reinstein, Shay Tzur, Doron Behar, Pola Smirin-Yosef, Mali Salmon-Divon, Amit Gross, Mordechai Shohat, Lina Basel-Vanagaite
INTRODUCTION: Whole exome sequencing is a diagnostic approach for the identification of molecular etiology in patients with suspected monogenic diseases. In this article we report on our experience with whole-exome sequencing (WES) of DNA samples taken from patients referred for genetic evaluation due to suspected undiagnosed genetic conditions. METHODS: Exome enrichment was achieved by Nextera Rapid Capture Expanded Exome Kit. Whole-exome sequencing was performed on Illumina HiSeq 2500...
April 2017: Harefuah
https://www.readbyqxmd.com/read/28551880/the-role-of-mkp-1-in-insulin-induced-cardioprotection
#5
Ingrid Webster, Angelique Smith, Amanda Lochner, Barbara Huisamen
PURPOSE: The mitogen-activated protein kinase phosphatases (MKPs) are a family of dual-specificity phosphatases that inactivate MAPKs by dephosphorylation. Impairment of MKP-1 expression in insulin resistance has been suggested to affect the cardioprotective properties of insulin. We hypothesized that manipulation of its activity during myocardial ischaemia/reperfusion of control as well as insulin-resistant rats may affect the outcome. METHODS: Hearts from 16 week dietary induced obese Wistar rats and their age matched controls were isolated, perfused in the working mode and subjected to 15 min global ischaemia / 30 min reperfusion or 35 min coronary artery ligation/ 60 min reperfusion...
May 27, 2017: Cardiovascular Drugs and Therapy
https://www.readbyqxmd.com/read/28551862/delivery-of-community-based-care-through-inter-professional-teams-in-brazil-s-unified-health-system-uhs-comparing-perceptions-across-community-health-agents-chas-nurses-and-physicians
#6
Rahbel Rahman, Rogério Meireles Pinto, Margareth Santos Zanchetta, Melanie M Wall
Given the shortage of medical providers and the need for medical decisions to be responsive to community needs, including lay health providers in health teams has been recommended as essential for the successful management of global health care systems. Brazil's Unified Health System (UHS) is a model for delivering community-based care through Family Health Strategy (FHS) interdisciplinary teams comprised of medical and lay health providers-Community Health Agents (CHAs), nurses, and physicians. This study aims to understand how medical and lay health providers' perceptions and attitudes could impact the delivery of community-based care...
May 27, 2017: Journal of Community Health
https://www.readbyqxmd.com/read/28551855/characterization-of-a-novel-theme-c-glycoside-hydrolase-family-9-cellulase-and-its-cbm-chimeric-enzymes
#7
Cheng-Jie Duan, Ming-Yue Huang, Hao Pang, Jing Zhao, Chao-Xing Wu, Jia-Xun Feng
In bacterial cellulase systems, glycoside hydrolase family 9 (GH9) cellulases are generally regarded as the major cellulose-degrading factors besides GH48 exoglucanase. In this study, umcel9A, which was cloned from uncultured microorganisms from compost, with the encoded protein being theme C GH9 cellulase, was heterologously expressed in Escherichia coli, and the biochemical properties of the purified enzyme were characterized. Hydrolysis of carboxylmethylcellulose (CMC) by Umcel9A led to the decreased viscosity of CMC solution and production of reducing sugars...
May 27, 2017: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/28551825/necroptosis-and-ferroptosis-are-alternative-cell-death-pathways-that-operate-in-acute-kidney-failure
#8
Tammo Müller, Christin Dewitz, Jessica Schmitz, Anna Sophia Schröder, Jan Hinrich Bräsen, Brent R Stockwell, James M Murphy, Ulrich Kunzendorf, Stefan Krautwald
Ferroptosis is a recently recognized caspase-independent form of regulated cell death that is characterized by the accumulation of lethal lipid ROS produced through iron-dependent lipid peroxidation. Considering that regulation of fatty acid metabolism is responsible for the membrane-resident pool of oxidizable fatty acids that undergo lipid peroxidation in ferroptotic processes, we examined the contribution of the key fatty acid metabolism enzyme, acyl-CoA synthetase long-chain family member 4 (ACSL4), in regulating ferroptosis...
May 27, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28551808/mitochondrial-heteroplasmy
#9
George B Stefano, Christina Bjenning, Fuzhou Wang, Nan Wang, Richard M Kream
Genetic polymorphisms, in concert with well-characterized etiology and progression of major pathologies, plays a significant role in aberrant processes afflicting human populations. Mitochondrial heteroplasmy represents a dynamically determined co-expression of inherited polymorphisms and somatic pathology in varying ratios within individual mitochondrial DNA (mtDNA) genomes with repetitive patterns of tissue specificity. The ratios of the MtDNA genomes represent a balance between healthy and pathological cellular outcomes...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28551785/mitochondria-in-ischemic-heart-disease
#10
L Maximilian Buja
A core feature of ischemic heart disease is injury to cardiomyocytes (CMC). Ischemic CMC manifest the molecular mechanisms to undergo the major forms of cell injury and death, namely, oncotic necrosis, necroptosis, apoptosis and unregulated autophagy. Important modulators of ischemic injury are reperfusion and conditioning. Mitochondria have a major role in mediating the injury to CMC through membrane protein complexes referred to as death channels. Apoptosis is mediated by activation of a channel regulated by the Bcl-2 protein family leading to mitochondrial outer membrane permeabilization (MOMP)...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28551761/a-family-based-study-of-the-association-between-labor-induction-and-offspring-attention-deficit-hyperactivity-disorder-and-low-academic-achievement
#11
Kelsey K Wiggs, Martin E Rickert, Sonia Hernandez-Diaz, Brian T Bateman, Catarina Almqvist, Henrik Larsson, Paul Lichtenstein, Anna Sara Oberg, Brian M D'Onofrio
The current study examined associations between labor induction and both (1) offspring attention-deficit hyperactivity disorder (ADHD) diagnosis in a Swedish birth cohort born 1992-2005 (n = 1,085,008) and (2) indices of offspring low academic achievement in a sub-cohort born 1992-1997 (n = 489,196). Associations were examined in the entire sample (i.e., related and unrelated individuals) with adjustment for measured covariates and, in order to account for unmeasured confounders shared within families, within differentially exposed cousins and siblings...
May 27, 2017: Behavior Genetics
https://www.readbyqxmd.com/read/28551759/seeing-a-brain-through-an-other-the-informant-s-share-in-the-diagnosis-of-dementia
#12
Laurence Anne Tessier
This article takes up the neuroscientific assumption of our brains as "solitary" and contrasts this understanding with the description of actual clinical practices. Drawing on observations of clinical consultations and team meetings in a world famous US center for the diagnosis of dementia, I examine how the "informant", a member of the patient's family, participates in the diagnosis process. Based on specific situations in which the informant is judged to be a "bad" one, I inquire as to how clinicians use what they understand of the affective relationships between the patient and the bad informant in order to make a diagnosis...
May 27, 2017: Culture, Medicine and Psychiatry
https://www.readbyqxmd.com/read/28551752/behavioural-phenotypes-and-neural-circuit-dysfunctions-in-mouse-models-of-autism-spectrum-disorder
#13
Allain-Thibeault Ferhat, Sonja Halbedl, Michael J Schmeisser, Martien J Kas, Thomas Bourgeron, Elodie Ey
Autism spectrum disorder (ASD) is a neurodevelopmental condition primarily characterised by alterations in social interaction and communication combined with the presence of restricted interests and stereotyped behaviours. Mutations in several genes have been associated with ASD resulting in the generation of corresponding mouse models. Here, we focus on the behavioural (social and stereotyped behaviours), functional and structural traits of mice with mutations in genes encoding defined synaptic proteins including adhesion proteins, scaffolding proteins and subunits of channels and receptors...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28551707/nutritional-therapy-in-very-early-onset-inflammatory-bowel-disease-a-case-report
#14
Talya L Miller, Dale Lee, Mathew Giefer, Ghassan Wahbeh, David L Suskind
Inflammatory bowel disease (IBD) is a chronic inflammatory disease of the gastrointestinal tract caused by a dysregulated immune response to the fecal microbiota. Very early-onset inflammatory bowel disease (VEO-IBD) refers to a subgroup of pediatric patients with IBD diagnosed before 6 years of age. This subgroup is often characterized by increased severity, aggressive progression, strong family history of IBD, and often poor response to conventional treatments. Nutritional therapies have been utilized to treat IBD, but their role in VEO-IBD is unclear...
May 27, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28551694/-association-of-the-meaning-of-life-with-satisfaction-the-occurrence-of-subjective-complaints-and-the-family-s-economic-status-in-the-population-of-lower-secondary-school-students
#15
Dorota Zawadzka, Magdalena Stalmach, Anna Oblacińska, Izabela Tabak
INTRODUCTION: Feeling of meaning in life is extremely crucial factor of mental health. The lack of it can result in various disorders. Many authors, especially those connected with current of humanistic psychology underline the teenagers' life sense. THE AIM: The aim of the paper was to examine the level of satisfaction with life, the frequency of psychosomatic complaints by junior high school students as well as the estimation of economical status of family and the analysis of meaning in life with above mentioned factors...
2017: Developmental Period Medicine
https://www.readbyqxmd.com/read/28551692/when-do-paediatric-patients-with-familial-hypercholesterolemia-need-statin-therapy
#16
Matylda Hennig, Agnieszka Brandt, Joanna Bautembach-Minkowska, Dominik Świętoń, Agnieszka Mickiewicz, Magdalenia Chmara, Bartosz Wasąg, Ewa Kamińska, Anna Balcerska, Janusz Limon, Andrzej Rynkiewicz, Marcin Gruchała, Małgorzata Myśliwiec
INTRODUCTION: Familial hypercholesterolemia (FH) is one of the most common autosomal dominant disorders. It is characterized by elevated LDL cholesterol levels occurring already by early childhood. Awareness of health risks in FH patients should incite health professionals to actively seek and treat children with lipid disorders to reduce their risk of myocardial infarction and stroke. OBJECTIVE: The aim of the study was to evaluate the suitability of taking into account the following parameters: ApoB/ApoA index, IMT and e-tracking examination, when initiating statin therapy in FH patients...
2017: Developmental Period Medicine
https://www.readbyqxmd.com/read/28551651/complete-reversion-of-familial-adenomatous-polyposis-phenotype-associated-with-tacrolimus-and-mycophenolate-mofetil-treatment-following-kidney-transplantation
#17
Vered Pinsk, Ilia Pinsk, Galina Ling, Baruch Yerushalmi, Lidia Osyntsov, Eduard Ling
Numerous germline mutations in the adenomatous polyposis coli (APC) tumor-suppressor gene are responsible for development of multiple adenomatous colorectal polyps with their inevitable progression to cancer. Multiple attempts at dietary and pharmacological prevention of colorectal carcinoma development in patients with familial adenomatous polyposis (FAP) have provided conflicting results. Immunosuppressive treatment with tacrolimus is known to be associated with an increased risk of malignancy and should be avoided in patients with high propensity for development of neoplasia...
June 2017: Anticancer Research
https://www.readbyqxmd.com/read/28551642/effect-of-radiation-therapy-on-survival-in-hodgkin-s-lymphoma-a-seer-data-analysis
#18
Samip Master, Nebu Koshy, Ben Wilkinson, Lane Rosen, Glenn Mills, Richard Mansour, Runhua Shi
BACKGROUND/AIM: Hodgkin's Lymphoma (HL) is curable in up to 80% of patients due, in part, to simultaneous advances in chemotherapy regimens as well as radiation therapy planning and delivery. Concerns regarding the historical use of large-field radiotherapy on overall survival have been published. In this study, we performed a Surveillance, epidemiology, and end results (SEER) data analysis to evaluate the impact of patients and treatments related factors on survival in HL. PATIENTS AND METHODS: Data from 39,700 adult patients registered in the SEER data with diagnosis of HL, between 1983-2011 and follow-up through 2012 were analyzed...
June 2017: Anticancer Research
https://www.readbyqxmd.com/read/28551613/erdheim-chester-disease-comprehensive-review-of-molecular-profiling-and-therapeutic-advances
#19
REVIEW
Faysal Haroun, Kristen Millado, Imad Tabbara
The revised 2016 World Health Organization classification introduced Erdheim-Chester disease (ECD) as a provisional entity within the histiocytic and dendritic cell neoplasms separate from the juvenile xanthogranuloma family based on distinct molecular features. However, evolving knowledge regarding the molecular and genetic aberrations in addition to common clinical features of ECD support the classification of ECD together with Langerhans cell histiocytosis (LCH). Accordingly, ECD can be thought of as an inflammatory myeloid clonal disorder based on the detection of various activating mutations along the mitogen activated protein kinase-extracellular signal regulated kinase (MAPK-ERK) pathway with most notable variant being a valine to a glutamic acid substitution at amino acid 600 in the B-rapidly accelerated fibrosarcoma protein (BRAFV600E)...
June 2017: Anticancer Research
https://www.readbyqxmd.com/read/28551597/clozapine-re-exposure-after-dilated-cardiomyopathy
#20
Mariëtte Nederlof, Theo Wj Benschop, Cornelia Adriana de Vries Feyens, Eibert Roelof Heerdink
A 63-year-old woman with diabetes type II and a history of breast cancer was treated with clozapine for her refractory schizophrenia. She developed a dilated cardiomyopathy with an ejection fraction of 25%, a life-threatening event. The cause of heart failure could be multifactorial, with clozapine, family history, chemotherapy, diabetes type II and/or lithium as possible contributing risk factors. Clozapine was discontinued and the patient was referred to a hospice. Two weeks later, her heart failure slowly improved...
May 27, 2017: BMJ Case Reports
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