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https://www.readbyqxmd.com/read/28646712/prediction-of-vocational-participation-and-global-role-functioning-in-help-seeking-young-adults-from-neurocognitive-demographic-and-clinical-variables
#1
Alice J Cairns, David J Kavanagh, Frances Dark, Steven M McPhail
BACKGROUND: The purpose of this study was to investigate neurocognitive, demographic and clinical correlates of vocational participation among a sample of young help-seeking adults. METHODS: Young people (18-25 years) accessing an early intervention youth health service participated. The Global Functioning: Role scale and level of vocational participation, participant characteristics (age, gender, socioeconomic background and family history of serious mental illness), distress, psychotic-like experiences, substance use, and mental health diagnoses were recorded...
June 13, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28646612/dowling-degos-disease-with-mutation-in-the-exon-1-of-the-keratin-5-gene
#2
Wanting Yu, Lu Gan, Jianbing Wu, Jianfang Sun, Yiqun Jiang
Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterised by acquired hyperpigmentation in a reticulate pattern, particularly affecting the flexural areas and other major skin folds. Mutations in KRT5, POFUT1 and POGLUT1 genes have been identified as causative genetic defects(1,2,3) . We report a new mutation in KRT5 in a sporadic Chinese patient with classical features of DDD. The patient, a 54-year-old man presented a 10-year history of progressively prutitic reticulated hyperpigmented macules in the flexural areas...
June 24, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28645967/the-bipolar-illness-onset-study-research-protocol-for-the-bio-cohort-study
#3
Lars Vedel Kessing, Klaus Munkholm, Maria Faurholt-Jepsen, Kamilla Woznica Miskowiak, Lars Bo Nielsen, Ruth Frikke-Schmidt, Claus Ekstrøm, Ole Winther, Bente Klarlund Pedersen, Henrik Enghusen Poulsen, Roger S McIntyre, Flavio Kapczinski, Wagner F Gattaz, Jakob Bardram, Mads Frost, Oscar Mayora, Gitte Moos Knudsen, Mary Phillips, Maj Vinberg
INTRODUCTION: Bipolar disorder is an often disabling mental illness with a lifetime prevalence of 1%-2%, a high risk of recurrence of manic and depressive episodes, a lifelong elevated risk of suicide and a substantial heritability. The course of illness is frequently characterised by progressive shortening of interepisode intervals with each recurrence and increasing cognitive dysfunction in a subset of individuals with this condition. Clinically, diagnostic boundaries between bipolar disorder and other psychiatric disorders such as unipolar depression are unclear although pharmacological and psychological treatment strategies differ substantially...
June 23, 2017: BMJ Open
https://www.readbyqxmd.com/read/28645353/actualit%C3%A3-s-autour-de-la-prise-en-charge-des-diab%C3%A3-tes-insipides-centraux-management-of-central-diabetes-insipidus-in-2016
#4
H Lasolle, F Borson-Chazot
Diabetes insipidus is a syndrome that associates both hypotonic polyuria and polydipsia, due to insufficient or ineffective arginine vasopressin (AVP) synthesis, or to AVP resistance. The diagnosis between central/renal origin, or an abnormal thirst regulation (primary polydipsia) is required to organize an adapted management. Because water deprivation tests are not reliable, it's often based on medical history, response to treatment and MRI. Copeptin is an AVP precursor which could be very helpful for the diagnosis...
October 2016: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28645261/genome-wide-analysis-of-udp-glycosyltransferase-super-family-in-brassica-rapa-and-brassica-oleracea-reveals-its-evolutionary-history-and-functional-characterization
#5
Jingyin Yu, Fan Hu, Komivi Dossa, Zhaokai Wang, Tao Ke
BACKGROUND: Glycosyltransferases comprise a highly divergent and polyphyletic multigene family that is involved in widespread modification of plant secondary metabolites in a process called glycosylation. According to conserved domains identified in their amino acid sequences, these glycosyltransferases can be classified into a single UDP-glycosyltransferase (UGT) 1 superfamily. RESULTS: We performed genome-wide comparative analysis of UGT genes to trace evolutionary history in algae, bryophytes, pteridophytes, and angiosperms; then, we further investigated the expansion mechanisms and function characterization of UGT gene families in Brassica rapa and Brassica oleracea...
June 23, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28645077/increased-blood-bdnf-in-healthy-individuals-with-a-family-history-of-depression
#6
Ulla Knorr, Mia H Greisen Søndergaard, Pernille Koefoed, Anders Jørgensen, Maria Faurholt-Jepsen, Maj Vinberg, Lars Vedel Kessing
The brain-derive neurotrophic factor (BDNF) may play an important role in the course of depression. We aimed to study the associations between peripheral whole blood BDNF levels in healthy individuals with and without a family history of depression. BDNF levels were significantly increased in healthy individuals with (n = 76), compared with healthy individuals without (n = 39) a family history of depression and persisted after adjustment for age and gender differences. Higher BDNF levels were associated with increasing age and seasonality...
June 17, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28644881/gestational-diabetes-mellitus-and-risk-of-type-2-diabetes-10-years-after-the-index-pregnancy-in-sri-lankan-women-a-community-based-retrospective-cohort-study
#7
Himali Herath, Rasika Herath, Rajitha Wickremasinghe
BACKGROUND: Women with a history of gestational diabetes mellitus (GDM) have an increased risk of type 2 diabetes mellitus (T2DM) later in life compared to women with no GDM. This study was aimed to determine the risk of developing T2DM 10 years after GDM in Sri Lankan women. METHODS: A retrospective cohort study was conducted in the Colombo district, Sri Lanka. 7205 women who delivered a child in 2005 were identified through Public Health Midwives in the field...
2017: PloS One
https://www.readbyqxmd.com/read/28644570/clinical-and-genetic-analysis-of-patients-with-cherubism
#8
R A Machado, H A R Pontes, F R Pires, H M Silveira, A Bufalino, R Carlos, F M Tuji, D B M Alves, A R Santos-Silva, M A Lopes, H M Capistrano, R D Coletta, F P Fonseca
OBJECTIVE: To describe the clinical and genetic features of patients with cherubism. MATERIAL AND METHODS: A descriptive analysis of 14 cases from 9 different families was carried out. Clinicopathological, imaging and follow-up data were retrieved from patients' medical files and correlated with the genetic profile of each patient. Genomic DNA isolated from buccal mucosa cells was subjected to direct sequencing analysis of the SH3BP2 gene. RESULTS: Females were more affected than males (8:6), and the mean age at diagnosis was 8...
June 23, 2017: Oral Diseases
https://www.readbyqxmd.com/read/28644426/the-association-between-the-serum-levels-of-matrix-metalloproteinase-9-and-colorectal-cancer
#9
Ismar Rašić, Azra Rašić, Goran Akšamija, Svjetlana Radović, Nedžad Šehović
Aim To determine the serum levels of matrix metalloproteinase 9 (MMP-9) concentration and their association with the stage and histopathologic sizes of colorectal cancer (CRC). Methods One hundred and two patients with clinically diagnosed and histologically confirmed colorectal cancer ready for surgical treatment were included in the study. In each patient, preoperative peripheral venous blood samples were taken for determination of the concentration of MMP-9 using ELISA immunoassay test. Resected tumour specimens were studied pathologically according to the criteria of the TNM classification...
August 1, 2017: Medicinski Glasnik
https://www.readbyqxmd.com/read/28644146/association-between-fibrinogen-level-and-the-severity-of-coronary-stenosis-in-418-male-patients-with-myocardial-infarction-younger-than-35-years-old
#10
Xiong-Yi Gao, Bing-Yang Zhou, Min-Zhou Zhang, Xi Zhao, Ping Qing, Cheng-Gang Zhu, Na-Qiong Wu, Yuan-Lin Guo, Ying Gao, Xiao-Lin Li, Yao Wang, Geng Liu, Qian Dong, Li-Heng Guo, Jian-Jun Li
Fibrinogen (Fib) is a useful marker for predicting the severity of coronary artery disease (CAD) in adult population. However, whether Fib can be a predictor for the presence and severity of CAD in very young MI patients (≤35 years old) remains to be determined. A total of 418 males from 61,863 patients with MI who were under 35 years old were sequentially recruited in our study. The patients were divided into two main groups and three subgroups according to coronary angiograph and Gensini score (GS) system: no coronary artery stenosis (group A), the results of the coronary artery stenosis (group B); low GS, intermediate GS and high GS...
June 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28643724/successful-surgical-management-of-bilateral-epiretinal-membrane-in-a-child-with-only-caf%C3%A3-au-lait-spots
#11
Swetha Sara Philip, Thomas Kuriakose, Geeta Chacko
A 6-year-old boy diagnosed as anisometropic amblyopia, with only café-au-lait spots and a family history of neurofibromatosis, presented with decrease in vision in the both eyes. Dilated fundus examination showed epiretinal membrane in both eyes over the macula. He underwent successful surgical management of the epiretinal membrane.
June 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28643016/screening-for-lynch-syndrome-in-young-saudi-colorectal-cancer-patients-using-microsatellite-instability-testing-and-next-generation-sequencing
#12
Masood Alqahtani, Caitlin Edwards, Natasha Buzzacott, Karen Carpenter, Khalid Alsaleh, Abdulmalik Alsheikh, Waleed Abozeed, Miral Mashhour, Afnan Almousa, Yousef Housawi, Shareefa Al Hawwaj, Barry Iacopetta
Individuals with Lynch syndrome (LS) have germline variants in DNA mismatch repair (MMR) genes that confer a greatly increased risk of colorectal cancer (CRC), often at a young age. Identification of these individuals has been shown to increase their survival through improved surveillance. We previously identified 33 high risk cases for LS in the Saudi population by screening for microsatellite instability (MSI) in the tumor DNA of 284 young CRC patients. The aim of the present study was to identify MMR gene variants in this cohort of patients...
June 22, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28642287/genetic-screening-in-sporadic-als-and-ftd
#13
EDITORIAL
Martin R Turner, Ammar Al-Chalabi, Adriano Chio, Orla Hardiman, Matthew C Kiernan, Jonathan D Rohrer, James Rowe, William Seeley, Kevin Talbot
The increasing complexity of the genetic landscape in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) presents a significant resource and physician training challenge. At least 10% of those diagnosed with ALS or FTD are known to carry an autosomal dominant genetic mutation. There is no consensus on what constitutes a positive family history, and ascertainment is unreliable for many reasons. However, symptomatic individuals often wish to understand as much as possible about the cause of their disease, and to share this knowledge with their family...
June 22, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28642255/family-history-is-strong-risk-factor-in-brca1-and-brca2-carriers-study-finds
#14
Jacqui Wise
No abstract text is available yet for this article.
June 21, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28642223/performing-high-level-sport-is-strongly-associated-with-urinary-incontinence-in-elite-athletes-a-comparative-study-of-372-elite-female-athletes-and-372-controls
#15
Alice Carvalhais, Jorge Renato Natal, Kari Bø
OBJECTIVE: To evaluate the prevalence of urinary incontinence (UI) in female elite athletes compared with controls and to investigate potential risk factors for UI among elite athletes. METHODS: This cross-sectional study included 372 elite athletes (athletes group, AG) and 372 age-matched controls (control group, CG). The median age was low (19 years) and the vast majority were nulliparous. Potential risk factors, including clinical, demographic and sports practice characteristics, were collected by using a questionnaire...
June 22, 2017: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/28640387/dna-mismatch-repair-deficiency-and-hereditary-syndromes-in-latino-patients-with-colorectal-cancer
#16
Charité N Ricker, Diana L Hanna, Cheng Peng, Nathalie T Nguyen, Mariana C Stern, Stephanie L Schmit, Greg E Idos, Ravi Patel, Steven Tsai, Veronica Ramirez, Sonia Lin, Vinay Shamasunadara, Afsaneh Barzi, Heinz-Josef Lenz, Jane C Figueiredo
BACKGROUND: The landscape of hereditary syndromes and clinicopathologic characteristics among US Latino/Hispanic individuals with colorectal cancer (CRC) remains poorly understood. METHODS: A total of 265 patients with CRC who were enrolled in the Hispanic Colorectal Cancer Study were included in the current study. Information regarding CRC risk factors was elicited through interviews, and treatment and survival data were abstracted from clinical charts. Tumor studies and germline genetic testing results were collected from medical records or performed using standard molecular methods...
June 22, 2017: Cancer
https://www.readbyqxmd.com/read/28640329/association-of-adverse-oral-health-outcomes-with-socioeconomic-inequalities-and-dental-needs-in-brazilian-adolescents
#17
Daniela de Rossi Figueiredo, João Luiz Bastos, Karen Glazer Peres
This study aimed to explore the relations between adverse oral outcomes and socioeconomic, demographic, and self-rated oral health variables and to describe their distribution. Principal component analysis was conducted on data from adolescents in the Brazilian National Oral Health Survey (N = 5,445). Higher loadings were found for crowding (0.6), maxillary and mandibular irregularities (0.5), and count of communitary periodontal index (CPI) sextants with bleeding and dental calculus (0.5). The mean rates for periodontal and occlusal disorders were at least two times higher in adolescents from lower income families and those reporting the need for dental prostheses, as well as those dissatisfied with their dental and overall oral health...
June 5, 2017: Cadernos de Saúde Pública
https://www.readbyqxmd.com/read/28640247/genetic-testing-impacts-the-utility-of-prospective-familial-screening-in-hypertrophic-cardiomyopathy-through-identification-of-a-nonfamilial-subgroup
#18
Carol Ko, Patricia Arscott, Maryann Concannon, Sara Saberi, Sharlene M Day, Beverly M Yashar, Adam S Helms
PurposeHypertrophic cardiomyopathy (HCM) is considered a hereditary autosomal dominant condition, but genetic testing is positive in only half of patients. In patients with negative genetic tests, the inheritance pattern and utility of family screening are unclear.MethodsSubjects with HCM were prospectively enrolled in a registry. A survey at a median follow-up of 4 years determined the yield of family screening.ResultsThe outcome of cardiac screening on 267 family members was reported by 120 survey respondents...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28640239/temple-syndrome-comprehensive-molecular-and-clinical-findings-in-32-japanese-patients
#19
Masayo Kagami, Keisuke Nagasaki, Rika Kosaki, Reiko Horikawa, Yasuhiro Naiki, Shinji Saitoh, Toshihiro Tajima, Tohru Yorifuji, Chikahiko Numakura, Seiji Mizuno, Akie Nakamura, Keiko Matsubara, Maki Fukami, Tsutomu Ogata
PurposeTemple syndrome (TS14) is a rare imprinting disorder caused by aberrations at the 14q32.2 imprinted region. Here, we report comprehensive molecular and clinical findings in 32 Japanese patients with TS14.MethodsWe performed molecular studies for TS14 in 356 patients with variable phenotypes, and clinical studies in all TS14 patients, including 13 previously reported.ResultsWe identified 19 new patients with TS14, and the total of 32 patients was made up of 23 patients with maternal uniparental disomy (UPD(14)mat), six patients with epimutations, and three patients with microdeletions...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28640238/treatment-of-mucopolysaccharidosis-type-ii-hunter-syndrome-results-from-a-systematic-evidence-review
#20
REVIEW
Linda A Bradley, Hamish R M Haddow, Glenn E Palomaki
PurposeA pilot systematic evidence review to establish methodology utility in rare genetic diseases, support clinical recommendations, and identify important knowledge gaps.MethodsBroad-based published/gray-literature searches through December 2015 for studies of males with confirmed mucopolysaccharidosis type II (any age, phenotype, genotype, family history) treated with enzyme replacement therapy or hematopoietic stem cell transplantation. Preset inclusion criteria employed for abstract and full document selection, and standardized methods for data extraction and assessment of quality and strength of evidence...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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