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https://www.readbyqxmd.com/read/28812602/prenatal-development-supports-a-single-origin-of-laryngeal-echolocation-in-bats
#1
Zhe Wang, Tengteng Zhu, Huiling Xue, Na Fang, Junpeng Zhang, Libiao Zhang, Jian Pang, Emma C Teeling, Shuyi Zhang
Bat laryngeal echolocation is considered as one of the most complex and diverse modes of auditory sensory perception in animals and its evolutionary history has been the cause of many scientific controversies in the past two decades. To date, the majority of scientific evidence supports that bats (Chiroptera) are divided into two subordinal groups: Yinpterochiroptera, containing the laryngeal echolocating superfamily Rhinolophidae as sister taxa to the non-laryngeal echolocating family Pteropodidae; and Yangochiroptera, containing all other laryngeal echolocating lineages...
January 9, 2017: Nature ecology & evolution
https://www.readbyqxmd.com/read/28812255/persisting-racial-disparities-in-colonoscopy-screening-of-persons-with-a-family-history-of-colorectal-cancer
#2
Meng-Han Tsai, Sudha Xirasagar, Piet C de Groen
With 23 and 47% higher colorectal cancer (CRC) incidence and mortality, respectively, among African Americans vs. Whites, CRC screening studies are important. Screening guidelines recommend 5-yearly colonoscopy screening of persons with a family history of CRC (first-degree relatives, FDRs), beginning at 40 years of age. For this elevated-risk group, colonoscopy screening is preferred because of the risk of more aggressive cancer that may elude early detection by other methods. African Americans with a family history of CRC are at the intersection of two elevated risk demographics, race and FDR status...
August 15, 2017: Journal of Racial and Ethnic Health Disparities
https://www.readbyqxmd.com/read/28812208/genetic-testing-in-inherited-heart-diseases-practical-considerations-for-clinicians
#3
REVIEW
Melanie Care, Vijay Chauhan, Danna Spears
PURPOSE OF REVIEW: Genetic testing has become an important element in the care of patients with inherited cardiac conditions (ICCs). The purpose of this review is to provide clinicians with insights into the utility of genetic testing as well as challenges associated with interpreting results. RECENT FINDINGS: Genetic testing may be indicated for individuals who are affected with or who have family histories of various ICCs. Various testing options are available and determining the most appropriate test for any given clinical scenario is key when interpreting results...
August 16, 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28812096/perceived-racism-and-incident-diabetes-in-the-black-women-s-health-study
#4
Kathryn L Bacon, Sherri O Stuver, Yvette C Cozier, Julie R Palmer, Lynn Rosenberg, Edward A Ruiz-Narváez
AIMS/HYPOTHESIS: Our aim was to assess the association of perceived racism with type 2 diabetes, and the possible mediating influence of diet and BMI. METHODS: The Black Women's Health Study, a follow-up of 59,000 African-American women, began in 1995. Over 16 years 5344 incident cases of diabetes occurred during 576,577 person-years. Cox proportional hazards models were used to estimated HRs and 95% CIs for categories of 'everyday racism' (interpersonal racism in daily life) and 'lifetime racism' (reporting ever treated unfairly due to race with respect to police, housing or work) and incident type 2 diabetes...
August 15, 2017: Diabetologia
https://www.readbyqxmd.com/read/28812062/clinical-and-experimental-studies-of-a-novel-p525r-fus-mutation-in-amyotrophic-lateral-sclerosis
#5
Lisha Kuang, Marisa Kamelgarn, Alexandra Arenas, Jozsef Gal, Deborah Taylor, Weiming Gong, Martin Brown, Daret St Clair, Edward J Kasarskis, Haining Zhu
OBJECTIVE: To describe the clinical features of a novel fused in sarcoma (FUS) mutation in a young adult female amyotrophic lateral sclerosis (ALS) patient with rapid progression of weakness and to experimentally validate the consequences of the P525R mutation in cellular neuronal models. METHODS: We conducted sequencing of genomic DNA from the index patient and her family members. Immunocytochemistry was performed in various cellular models to determine whether the newly identified P525R mutant FUS protein accumulated in cytoplasmic inclusions...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28811802/clinical-features-and-risk-factors-for-irritable-bowel-syndrome-in-migraine-patients
#6
Chunlin Li, Shengyuan Yu, Huiying Li, Jin Zhou, Jieqiong Liu, Wenjing Tang, Lei Zhang
OBJECTIVE: Clinical and basic research increasingly suggests a correlation between migraine and irritable bowel syndrome (IBS). In this study, we aimed to explore the clinical features and risk factors for IBS in migraine patients. METHODS: This was a retrospective, cross-sectional study. A total of 1,112 consecutive patients from the internal medicine and emergency departments of three hospitals from June 2014 through 2016. A comprehensive interviewer-administered questionnaire was designed based on the International Classification of Headache Disorders, 3rd edition (beta version)...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28810563/dystrophia-myotonica-type-1-presenting-with-dysarthria-a-case-report-and-literature-review
#7
Chunrong Li, Xiaoling Zhang, Chunkui Zhou, Lijun Zhu, Kangding Liu, Shaokuan Fang
Dystrophia myotonica (DM) type 1 is an autosomal dominant disorder, caused by a trinucleotide CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene (chromosome 19q13.3). The disorder affects different organ systems, including the skeletal muscles, ocular lens, lungs, heart and gastrointestinal tract, as well as the endocrine and central nervous systems. The skeletal muscles are most frequently involved, whereby the disorder manifests as myotonia, muscle weakness and amyotrophy...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28809850/function-related-replacement-of-bacterial-siderophore-pathways
#8
Hilke Bruns, Max Crüsemann, Anne-Catrin Letzel, Mohammad Alanjary, James O McInerney, Paul R Jensen, Stefan Schulz, Bradley S Moore, Nadine Ziemert
Bacterial genomes are rife with orphan biosynthetic gene clusters (BGCs) associated with secondary metabolism of unrealized natural product molecules. Often up to a tenth of the genome is predicted to code for the biosynthesis of diverse metabolites with mostly unknown structures and functions. This phenomenal diversity of BGCs coupled with their high rates of horizontal transfer raise questions about whether they are really active and beneficial, whether they are neutral and confer no advantage, or whether they are carried in genomes because they are parasitic or addictive...
August 15, 2017: ISME Journal
https://www.readbyqxmd.com/read/28808903/clinical-outcomes-of-aortic-repair-in-young-adult-patients-with-acta2-mutations
#9
Yoshimasa Seike, Kenji Minatoya, Hiroaki Sasaki, Hiroshi Tanaka, Tatsuya Itonaga, Yosuke Inoue, Hiroko Morisaki, Takayuki Morisaki, Hatsue Ishibashi-Ueda, Junjiro Kobayashi
OBJECTIVES: Actin, alpha-2, smooth muscle, aorta (ACTA2) mutations are one of the major causes of familial thoracic aortic aneurysms and dissections. The aim of this study was to review our clinical results of young adult patients with aortic disease caused by ACTA2 mutations. METHODS: We reviewed the medical records of 251 patients (<50 years old) who underwent surgery for thoracic aortic diseases between 2004 and 2014. Among them, nine patients (3.5%) had ACTA2 mutations...
August 14, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28807138/prevalence-and-predictors-of-post-stroke-mood-disorders-a-meta-analysis-and-meta-regression-of-depression-anxiety-and-adjustment-disorder
#10
Alex J Mitchell, Bhavisha Sheth, John Gill, Motahare Yadegarfar, Brendon Stubbs, Mohammad Yadegarfar, Nick Meader
OBJECTIVE: To ascertain the prevalence and predictors of mood disorders, determined by structured clinical interviews (ICD or DSM criteria) in people after stroke. METHODS: Major electronic databases were searched from inception to June 2016 for studies involving major depression (MDD), minor depression (MnD), dysthymia, adjustment disorder, any depressive disorder (any depressive disorder) and anxiety disorders. Studies were combined using both random and fixed effects meta-analysis and results were stratified as appropriate...
July 2017: General Hospital Psychiatry
https://www.readbyqxmd.com/read/28806491/the-association-between-dysregulated-adipocytokines-in-early-pregnancy-and-development-of-gestational-diabetes
#11
Sally K Abell, Soulmaz Shorakae, Cheryce L Harrison, Danielle Hiam, Alba Moreno-Asso, Nigel K Stepto, Barbora De Courten, Helena J Teede
BACKGROUND: To investigate the association of adipocytokines and other inflammatory markers with development of GDM. METHODS: Serum adipocytokines and inflammatory markers were studied at 12-15 weeks gestation using biobanked control samples from a randomised trial. Study participants were identified as high risk for GDM using a validated clinical risk prediction tool. Markers were tested using commercial ELISA kits for high molecular weight (HMW) adiponectin, interleukin-6 (IL-6), plasminogen activator inhibitor-1, visfatin, omentin-1, sex-hormone binding globulin, monocyte chemoattractant protein and asymmetrical dimethylarginine...
August 14, 2017: Diabetes/metabolism Research and Reviews
https://www.readbyqxmd.com/read/28806213/maintenance-of-good-visual-acuity-in-best-disease-associated-with-chronic-bilateral-serous-macular-detachment
#12
Sarra Gattoussi, Camiel J F Boon, K Bailey Freund
PURPOSE: We describe the long-term follow-up of a patient with multifocal Best disease with chronic bilateral serous macular detachment and unusual peripheral findings associated with a novel mutation in the BEST1 gene. METHODS: Case report. RESULTS: A 59-year-old white woman was referred for an evaluation of her macular findings in 1992. There was a family history of Best disease in the patient's mother and a male sibling. Her medical history was unremarkable...
August 10, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28805766/-results-of-a-clinical-and-genealogical-analysis-of-pedigrees-of-children-with-cerebral-palsy-in-the-population-of-rostov-region
#13
V A Tupikov, T S Kolmakova, V B Shamik, M V Tupikov, N M Churilov
AIM: To perform clinical and genealogical pedigree analysis and determine the proportion of hereditary factors in the etiopathogenesis of cerebral palsy (CP) in children in the Rostov Region. MATERIAL AND METHODS: Pedigrees and the prevalence of CP, congenital malformations and other related diseases among relatives of I, II and III degrees of kinship of 229 probands with CP were studied. RESULTS AND CONCLUSION: The family concentration of the disease was detected in 15 (6...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28805579/nonmotor-manifestations-of-wilson-s-disease
#14
Samar Biswas, Neelanjana Paul, Shyamal K Das
Wilson disease (WD) is an autosomal genetic disorder characterized by excessive copper deposition initially in liver (hepatic variant) followed by brain (neuropsychiatric variant) and other organs such as cornea and kidney due to defect in biliary copper excretion. Predominant presentations of neuropsychiatric variant are extrapyramidal motor dysfunctions such as dystonias, Parkinsonism, choreoathetosis, tremor, and ataxias. Nonmotor symptoms (NMS) can appear before clinical disease expression and during ongoing disease process...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28805445/prevalence-and-predictors-of-learning-and-psychological-diagnoses-following-pediatric-arterial-ischemic-stroke
#15
Tricia S Williams, Kyla P McDonald, Samantha D Roberts, Nomazulu Dlamini, Gabrielle deVeber, Robyn Westmacott
This study examined the prevalence of learning and psychological diagnoses and associated neurological and personal-environmental risk factors following perinatal and childhood arterial ischemic stroke. In our sample of 126 children and youth, 52.4% received a diagnosis following their assessment. Specifically, 32% had a single diagnosis and 21% had two or more diagnoses. Learning disability, attention deficit-hyperactivity disorder, and intellectual disability were the most prevalent diagnoses. Associated risk factors varied by diagnosis with lower intellectual functioning being the common risk factor across categories...
August 14, 2017: Developmental Neuropsychology
https://www.readbyqxmd.com/read/28805160/clinical-implications-of-immunoglobulin-g4-to-graves-ophthalmopathy
#16
Sung Hoon Yu, Jun Goo Kang, Chul Sik Kim, Sung-Hee Ihm, Moon Gi Choi, Hyung Joon Yoo, Seong Jin Lee
BACKGROUND: This study aimed to explore relation of immunoglobulin G4 (IgG4) to clinical and laboratory characteristics of patients newly diagnosed with Graves' disease (GD) without or with Graves' ophthalmopathy (GO), and to analyze association of IgG4 with development and grade of GO in GD patients. METHODS: Sixty-four GD patients and 64 sex- and age-matched euthyroid subjects were enrolled. Serum levels of thyroid hormones, thyroid autoantibodies, immunoglobulin G (IgG) and IgG4 were measured, and ophthalmological and ultrasonographical evaluation was performed...
August 12, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28805093/monitoring-disease-progression-in-spinocerebellar-ataxias-implications-for-treatment-and-clinical-research
#17
Lidia Sarro, Lorenzo Nanetti, Anna Castaldo, Caterina Mariotti
Spinocerebellar ataxias (SCAs) are autosomal dominant diseases characterized by progressive gait and limb incoordination, disequilibrium, dysarthria, and eye movement disturbances. Approximately 40 genetic subtypes of SCAs are known and classified according to the causative disease gene/locus. With the possibility of the specific genetic diagnosis in patients and at-risk family members, several clinical scales and functional tests have been validated and used in ataxic patients with the purposes of measuring the entity of disease progression in natural history studies and the possible slowing of neurological impairment in therapeutic trials...
August 13, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/28805082/veterans-transitioning-from-isolation-to-integration-a-look-at-veteran-service-dog-partnerships
#18
Terry K Crowe, Victoria Sánchez, Alyse Howard, Brenna Western, Stephanie Barger
BACKGROUND: This study explored the dynamics of veteran/service dog partnerships by gathering the perspectives of veterans with a history of post-traumatic stress disorder and/or traumatic brain injury. METHODS: Exploratory qualitative methods (focus groups and individual interviews) were used to investigate veteran/service dog relationships related to community involvement, family and friend relationships, self-care, work, and leisure. Nine male veterans, Paws, and Stripes program graduates participated...
August 13, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28805011/bicuspid-and-unicuspid-aortic-valves-different-phenotypes-of-the-same-disease-insight-from-the-gentac-registry
#19
Joseph M Krepp, Mary J Roman, Richard B Devereux, Adrienne Bruce, Siddharth K Prakash, Shaine A Morris, Dianna M Milewicz, Kathryn W Holmes, William Ravekes, Ralph V Shohet, Reed E Pyeritz, Cheryl L Maslen, Barbara L Kroner, Kim A Eagle, Liliana Preiss, Federico M Asch
BACKGROUND: Unicuspid aortic valve (UAV) is a rare disorder, often difficult to distinguish from bicuspid aortic valve (BAV). BAV and UAV share valve pathology such as the presence of a raphe, leaflet fusion, aortic stenosis, aortic regurgitation, and/or ascending aortic dilatation, but a comprehensive echocardiographic comparison of patients with UAV and BAV has not been previously performed. METHODS: We investigated UAV and BAV patients at an early stage of disease included in GenTAC, a national registry of genetically related aortic aneurysms and associated cardiac conditions...
August 14, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28804653/college-students-perceptions-of-worry-and-parent-beliefs-associations-with-behaviors-to-prevent-sun-exposure
#20
Robert A Yockey, Laura A Nabors, Oladunni Oluwoye, Kristen Welker, Angelica M Hardee
More research is needed to understand how attitudes impact behaviors that afford sun protection. The current study examined the impact of students' perceptions of parental beliefs about sun exposure and its influence on their practiced sun protection behaviors and worry about sun exposure. Participants were college students (N = 462) at a large Midwestern university. They completed a survey to examine their perceptions of risks and messages about sun exposure and sun exposure behaviors. Results indicated that gender and students' perceptions of parental beliefs about sun exposure were related to sun protection behaviors and their own worry over sun exposure...
2017: Journal of Skin Cancer
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