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https://www.readbyqxmd.com/read/28449304/a-case-of-familial-transmission-of-the-newly-described-dnmt3a-overgrowth-syndrome
#1
Gabrielle Lemire, Julie Gauthier, Jean-François Soucy, Marie-Ange Delrue
DNMT3A-Overgrowth Syndrome (also known as Tatton-Brown-Rahman Syndrome) (MIM 615879) has recently been described in 13 individuals with de novo heterozygous mutations in DNMT3A gene. This autosomal dominant condition is characterized by overgrowth, dysmorphic facial features and moderate intellectual disability. Missense and truncating point mutations, a small in-frame deletion, as well as microdeletion 2p23 have been reported. Moreover, DNMT3A is commonly somatically mutated in acute myeloid leukemia. We herein report a family with two siblings and their father affected by the syndrome...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28449223/the-impact-of-a-sibling-s-life-limiting-genetic-condition-on-adult-brothers-and-sisters
#2
Erica Brown, Jane Coad, Anita Franklin
It is estimated that rare diseases affect the lives of over three million people in the United Kingdom. Of these, a significant proportion are children and young people with genetic life-limiting or life-shortening conditions. This study used a qualitative approach with in-depth semi-structured interviews to explore the experiences of 10 adult siblings of a baby diagnosed with Trisomy 13 (Patau syndrome) or Trisomy 18 (Edward syndrome). Findings illustrate that parental grief from the time of their child's diagnosis onward is also experienced by siblings...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28449133/maternal-alcohol-use-during-pregnancy-and-offspring-attention-deficit-hyperactivity-disorder-adhd-a-prospective-sibling-control-study
#3
Espen Moen Eilertsen, Line C Gjerde, Ted Reichborn-Kjennerud, Ragnhild E Ørstavik, Gun Peggy Knudsen, Camilla Stoltenberg, Nikolai Czajkowski, Espen Røysamb, Kenneth S Kendler, Eivind Ystrom
Background: Maternal alcohol use during pregnancy has repeatedly been associated with development of attention-deficit hyperactivity disorder (ADHD) in the offspring. It is, however not known whether this reflects a direct casual intra-uterine effect or a non-causal relationship due to confounding. We used three different approaches to control for measured and unmeasured confounding: statistical adjustment for covariates, negative control comparison against maternal pre-pregnancy alcohol use, and comparison among differentially exposed siblings...
April 24, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/28447819/intelligence-income-and-education-as-potential-influences-on-a-child-s-home-environment-a-maternal-sibling-comparison-design
#4
Alexandria Ree Hadd, Joseph Lee Rodgers
The quality of the home environment, as a predictor, is related to health, education, and emotion outcomes. However, factors influencing the quality of the home environment, as an outcome, have been understudied-particularly how children construct their own environments. Further, most previous research on family processes and outcomes has implemented between-family designs, which limit claims of causality. The present study uses kinship data from the National Longitudinal Survey of Youth to construct a maternal sibling-comparison design to investigate how maternal and child traits predict the quality of home environment...
April 27, 2017: Developmental Psychology
https://www.readbyqxmd.com/read/28446956/a-novel-pex1-mutation-in-a-moroccan-family-with-zellweger-spectrum-disorders
#5
Amale Bousfiha, Amina Bakhchane, Hicham Charoute, Zied Riahi, Khalid Snoussi, Hassan Rouba, Crystel Bonnet, Christine Petit, Abdelhamid Barakat
Mutations in the PEX1 gene are usually associated with recessive inherited diseases including Zellweger spectrum disorders. In this work, we identified a new pathogenic missense homozygous PEX1 mutation (p.Leu1026Pro, c.3077T>C) in two Moroccan syndromic deaf siblings from consanguineous parents. This variation is located in the P-loop containing nucleoside triphosphate hydrolase of protein domain and probably causes an alteration in the hydrolysis of ATP.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28446577/population-dynamics-of-staphylococcus-aureus-in-cystic-fibrosis-patients-to-determine-transmission-events-utilizing-wgs
#6
Andrea Ankrum, Barry G Hall
Strict infection control practices have been implemented for healthcare visits by Cystic Fibrosis patients in an attempt to prevent transmission of important pathogens. This study used whole genome sequencing (WGS) to determine strain relatedness and assess population dynamics of Staphylococcus aureus isolates from a cohort of CF patients as assessed by strain relatedness. 311 S. aureus isolates were collected from respiratory cultures of 115 CF patients during a 22 month study period. Whole genome sequencing was performed and using SNP analysis, phylogenetic trees were assembled to determine relatedness between isolates...
April 26, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28446151/novel-mutation-in-the-slc12a3-gene-in-a-sri-lankan-family-with-gitelman-syndrome-coexistent-diabetes-a-case-report
#7
Chandrika Jayakanthi Subasinghe, Nirmala Dushyanthi Sirisena, Chula Herath, Knut Erik Berge, Trond Paul Leren, Uditha Bulugahapitiya, Vajira Harshadeva Weerabaddana Dissanayake
BACKGROUND: Gitelman syndrome (GS) is a rare autosomal recessively inherited salt-wasting tubulopathy associated with mutations in the SLC12A3 gene, which encodes for NaCl cotransporter (NCC) in the kidney. CASE PRESENTATION: In this report, we describe two siblings from a Sri Lankan non-consanguineous family presenting with hypokalaemia associated with renal potassium wasting, hypomagnesemia, hypocalciuria and hypereninemic hyperaldosteronism with normal blood pressure...
April 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28446146/flow-cytometry-sorting-of-nuclei-enables-the-first-global-characterization-of-paramecium-germline-dna-and-transposable-elements
#8
Frédéric Guérin, Olivier Arnaiz, Nicole Boggetto, Cyril Denby Wilkes, Eric Meyer, Linda Sperling, Sandra Duharcourt
BACKGROUND: DNA elimination is developmentally programmed in a wide variety of eukaryotes, including unicellular ciliates, and leads to the generation of distinct germline and somatic genomes. The ciliate Paramecium tetraurelia harbors two types of nuclei with different functions and genome structures. The transcriptionally inactive micronucleus contains the complete germline genome, while the somatic macronucleus contains a reduced genome streamlined for gene expression. During development of the somatic macronucleus, the germline genome undergoes massive and reproducible DNA elimination events...
April 26, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28445689/clinical-staging-and-serum-cytokines-in-bipolar-patients-during-euthymia
#9
Amparo Tatay-Manteiga, Vicent Balanzá-Martínez, Giovana Bristot, Rafael Tabarés-Seisdedos, Flavio Kapczinski, Omar Cauli
AIMS: Changes in serum cytokines and altered neutrophin concentration have been associated with bipolar disorder (BD). Our aim here was to analyze peripheral blood biomarkers according to the clinical stages of BD. METHOD: Euthymic BD-I patients were grouped according to their level of functioning in early-stage (n=25) and late-stage (n=23), and compared to healthy siblings (n=23) and genetically unrelated healthy controls (n=21). Neurotrophin (neurotrophin-3 and BDNF) concentration and biomarkers of inflammation, including cytokines (IL-6, IL-10 and TNF-α), leukocytes countand acute phase proteins, were measured...
April 23, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28444211/effects-of-sample-size-and-full-sibs-on-genetic-diversity-characterization-a-case-study-of-three-syntopic-iberian-pond-breeding-amphibians
#10
Gregorio Sánchez-Montes, Arturo H Ariño, José L Vizmanos, Jinliang Wang, Íñigo Martínez-Solano
Accurate characterization of genetic diversity is essential for understanding population demography, predicting future trends and implementing efficient conservation policies. For that purpose, molecular markers are routinely developed for non-model species, but key questions regarding sampling design, like calculation of minimum sample sizes or the effect of relatives in the sample, are often neglected. We used accumulation curves and sibship analyses to explore how these two factors affect marker performance in the characterization of genetic diversity...
April 24, 2017: Journal of Heredity
https://www.readbyqxmd.com/read/28444113/prenatal-exposure-to-fever-and-infections-and-academic-performance-a-multilevel-analysis
#11
Julie Werenberg Dreier, Gabriele Berg-Beckhoff, Per Kragh Andersen, Anne-Marie Nybo Andersen
Prenatal exposure to fever and infections has been linked to various neurodevelopmental disorders, but it is not yet known whether more subtle effects on neurodevelopment may exist as well. Therefore, we aimed to investigate whether these early-life exposures were associated with academic performance in childhood and early adolescence. Children and mothers who were enrolled in the Danish National Birth Cohort during 1996-2002 were included in this study. Information on fever and infections common in pregnancy was prospectively collected in 2 pregnancy interviews and linked with assessments of academic performance from the 2010-2013 Danish National Tests...
April 24, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28443159/genetic-markers-for-adolescent-idiopathic-scoliosis-on-chromosome-19p13-3-among-saudi-arabian-girls
#12
Abdallah Ahmad Al-Othman, Mir Sadat-Ali, Ahmed Sh Amer, Dakheel A Al-Dakheel
STUDY DESIGN: Prospective case-controlled study. PURPOSE: This study aimed to assess genetic influence in Saudi Arabian children with adolescent idiopathic scoliosis (AIS). OVERVIEW OF LITERATURE: The genetic locus linked to chromosome 19p for idiopathic scoliosis has been described. A pilot study conducted at King Fahd Hospital of the University, Al-Khobar showed that three microsatellite markers (D19S216, D19S894, and DS1034) of chromosome 19p13...
April 2017: Asian Spine Journal
https://www.readbyqxmd.com/read/28443056/concerns-mental-health-and-quality-of-life-in-living-kidney-donation-parent-donor-candidates-worry-less-about-themselves
#13
M Ángeles Pérez-San-Gregorio, Agustín Martín-Rodríguez, Asunción Luque-Budia, Rupert Conrad
Even though the majority of living kidney donor candidates appear in good mental health and show few concerns little is known concerning the influence of the type of donor-recipient relationship on donor candidates' specific concerns with regard to kidney donation. 136 donor candidates at Virgen del Rocío University Hospital of Seville filled in the Scale of Concerns Regarding Living Kidney Donation of whom 105 donor candidates and their corresponding recipients (105 patients with End-Stage Renal Disease) were further evaluated with regard to mental health (Hospital Anxiety and Depression Scale, Beck Depression Inventory-II) and quality of life (SF-36 Health Survey)...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28442938/environmental-arsenic-exposure-and-risk-of-diabetes-type-2-in-ron-phibun-subdistrict-nakhon-si-thammarat-province-thailand-unmatched-and-matched-case-control-studies
#14
Kwanyuen Sripaoraya, Wattasit Siriwong, Sumol Pavittranon, Robert S Chapman
BACKGROUND: There are inconsistent findings on associations between low-to-moderate level of arsenic in water and diabetes risk from previous epidemiological reports. In Ron Phibun subdistrict, Nakhon Si Thammarat Province, Thailand, a low level of arsenic exposure among population was observed and increased diabetes mellitus (DM) rate was identified. OBJECTIVES: We aimed to investigate the association between determinants (including low-level water arsenic exposure) of DM type 2 risk among residents of three villages of Ron Phibun subdistrict, Nakhon Si Thammarat Province...
2017: Risk Management and Healthcare Policy
https://www.readbyqxmd.com/read/28442248/social-environments-and-interpersonal-distance-regulation-in-psychosis-a-virtual-reality-study
#15
Chris N W Geraets, Marije van Beilen, Roos Pot-Kolder, Jacqueline Counotte, Mark van der Gaag, Wim Veling
BACKGROUND: Experimentally studying the influence of social environments on mental health and behavior is challenging, as social context is difficult to standardize in laboratory settings. Virtual Reality (VR) enables studying social interaction in terms of interpersonal distance in a more ecologically valid manner. Regulation of interpersonal distance may be abnormal in patients with psychotic disorders and influenced by environmental stress, symptoms or distress. AIMS: To investigate interpersonal distance in people with a psychotic disorder and at ultrahigh risk for psychosis (UHR) compared to siblings and controls in virtual social environments, and explore the relationship between clinical characteristics and interpersonal distance...
April 22, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#16
C L Zhang, F Yin, F He, N Gai, Z Q Shi, J Peng
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441091/siblings-and-the-coming-out-process-a-comparative-case-study
#17
Stephanie Haxhe, Alison Cerezo, Jeannette Bergfeld, Joseph C Walloch
Siblings play a key, supportive role in the lives of many lesbian and gay adults. Yet, siblings are rarely considered in the literature regarding the coming out process (D'Augelli et al., 1998; Hilton & Szymanski, 2011; LaSala, 2010; Savin-Williams & Dubé, 1998). To fill this gap in the research literature, we carried out a comparative case study in the country of Belgium between two sets of siblings-three Romani brothers with one sibling identifying as a gay male and three White sisters with one sibling identifying as a lesbian...
April 25, 2017: Journal of Homosexuality
https://www.readbyqxmd.com/read/28440906/familial-longevity-is-characterized-by-high-circadian-rhythmicity-of-serum-cholesterol-in-healthy-elderly-individuals
#18
Rosa van den Berg, Raymond Noordam, Sander Kooijman, Steffy W M Jansen, Abimbola A Akintola, P Eline Slagboom, Hanno Pijl, Patrick C N Rensen, Nienke R Biermasz, Diana van Heemst
The biological clock, whose function deteriorates with increasing age, determines bodily circadian (i.e. 24h) rhythms, including that of cholesterol metabolism. Dampening of circadian rhythms has been associated with aging and disease. Therefore, we hypothesized that individuals with a familial predisposition for longevity have a higher amplitude circadian serum cholesterol concentration rhythm. The aim of this study was to investigate circadian rhythmicity of serum cholesterol concentrations in offspring of nonagenarian siblings and their partners...
April 2017: Aging Cell
https://www.readbyqxmd.com/read/28440753/is-hla-the-cause-of-the-high-incidence-of-type-1-diabetes-in-the-canary-islands-results-from-the-type-1-diabetes-genetics-consortium-t1dgc
#19
Angelo Santana Del Pino, Nathan Medina-Rodríguez, Marta Hernández-García, Francisco J Nóvoa-Mogollón, Ana M Wägner
INTRODUCTION: Incidence of childhood-onset type 1 diabetes mellitus in the Canary Islands is the highest reported so far in Spain, and among the highest worldwide. The HLA region accounts for approximately half the genetic risk of type 1 diabetes. Our aim was to assess distribution of high-risk and protective HLA haplotypes in the Canarian families included in the T1DGC, as compared to the rest of Spain. METHODS: The T1DGC study, an international project to study the genetics and pathogenesis of type 1 diabetes, enrolled more than 3000 families with type 1 diabetes worldwide...
March 2017: Endocrinol Diabetes Nutr
https://www.readbyqxmd.com/read/28440418/two-novel-mutations-in-ercc6-cause-cockayne-syndrome-b-in-a-chinese-family
#20
Chunxia He, Mao Sun, Guoxia Wang, Ying Yang, Libo Yao, Yuanming Wu
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized principally by progressive growth failure, neurologic abnormality and premature aging. Mutations of excision repair cross‑complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of ERCC6 accounts for approximately two thirds of cases. The current report describes two siblings with severe neurologic abnormality and premature aging. Whole exome sequencing identified two novel mutations in ERCC6 that had not been previously reported...
April 20, 2017: Molecular Medicine Reports
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