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https://www.readbyqxmd.com/read/29777965/what-do-we-know-about-sibling-attended-birth-an-integrative-literature-review
#1
REVIEW
Nora L Naber, Suzanne Miller, Sally A Baddock
OBJECTIVE: to consolidate existing research in the field of sibling attended birth (SAB) into a body of knowledge to inform decision-making processes and guide midwifery practice throughout the sibling attended birth experience. DESIGN: An integrative literature review. DATA SOURCES: CINAHL Complete, Cochrane Library, PubMed, Index New Zealand, Australia/New Zealand Reference Centre, grey literature databases REVIEW METHODS: An extensive search of five electronic databases as well as 17 grey literature databases was conducted...
May 8, 2018: Midwifery
https://www.readbyqxmd.com/read/29777911/deficiency-in-gnrh-receptor-trafficking-due-to-a-novel-homozygous-mutation-causes-idiopathic-hypogonadotropic-hypogonadism-in-three-prepubertal-siblings
#2
Rui Zhang, Siyuan Linpeng, Zhuo Li, Yingxi Cao, Hu Tan, Desheng Liang, Lingqian Wu
Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients are diagnosed in late adolescence or early adulthood. Determining the diagnosis of IHH in prepubertal patients can be challenging. Making a timely, correct diagnosis has important clinical implications. Here we aimed to identify the genetic cause of IHH in three prepubertal siblings from a Chinese Han family and give appropriate treatment advice. Using whole exome sequencing (WES), we identified a novel homozygous GNRHR mutation (NM_000406; c...
May 16, 2018: Gene
https://www.readbyqxmd.com/read/29777747/social-environment-as-a-factor-affecting-exploration-and-learning-in-pre-juvenile-rats
#3
Klaudia Modlinska, Rafał Stryjek, Anna Chrzanowska, Wojciech Pisula
Stress associated with social isolation in early life can lead to disturbances in the emotional regulation in adult rats. However, there are no reports on the impact of isolation from the mother while providing contact with peers. Under such conditions, young individuals have the opportunity to interact with others, are able to develop social behaviour, etc. Yet, there is no stimulation and care provided by the mother. We examined the relative impact of maternal contact and sibling contact in the rarely studied pre-juvenile (3rd and 4th week post birth) period on subsequent development...
May 16, 2018: Behavioural Processes
https://www.readbyqxmd.com/read/29777465/siblings-with-l2-hydroxy-glutaric-aciduria
#4
Jyotindra Narayan Goswami, Ananthanarayanan Kasinathan, Naveen Sankhyan, Sameer Vyas, Pratibha Singhi
No abstract text is available yet for this article.
May 18, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29775556/let-s-talk-about-it-supporting-family-communication-during-end-of-life-care-of-pediatric-patients
#5
Meghan L Marsac, Christine Kindler, Danielle Weiss, Lindsay Ragsdale
BACKGROUND: Communication is key in optimizing medical care when a child is approaching end of life (EOL). Research is yet to establish best practices for how medical teams can guide intrafamily communication (including surviving siblings) when EOL care is underway or anticipated for a pediatric patient. While recommendations regarding how medical teams can facilitate communication between the medical team and the family exist, various barriers may prevent the implementation of these recommendations...
May 18, 2018: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/29772352/allogeneic-stem-cell-transplantation-from-hla-mismatched-donors-for-pediatric-patients-with-acute-lymphoblastic-leukemia-treated-according-to-the-2003-bfm-and-2007-international-bfm-studies-impact-of-disease-risk-on-outcomes
#6
Jean-Hugues Dalle, Adriana Balduzzi, Peter Bader, Arjan Lankester, Isaac Yaniv, Jacek Wachowiak, Anna Pieczonka, Marc Bierings, Akif Yesilipek, Petr Sedlacek, Marianne Ifversen, Sabina Sufliarska, Jacek Toporski, Evgenia Glogova, Ulrike Poetschger, Christina Peters
RATIONAL: Allogeneic HSCT is beneficial for pediatric patients with relapsed or (very) high-risk ALL in remission. A total of 1115 consecutive patients were included in the ALL SCT 2003 BFM study and the ALL SCT 2007-International study and were stratified according to relapse risk (Standard vs. High vs. Very High Risk of Relapse) and donor type (Matched Sibling vs. Matched Donor vs. Mismatched Donor). PATIENTS AND METHODS: A total of 148 patients (60% male, median age 8...
May 14, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29772205/avoiding-sibling-conflict-lessons-from-dendrite-self-avoidance-in-c-elegans
#7
Shelley Halpain
No abstract text is available yet for this article.
May 16, 2018: Neuron
https://www.readbyqxmd.com/read/29771382/-it-s-just-for-us-perceived-benefits-of-participation-in-a-group-intervention-for-siblings-of-children-with-cancer
#8
Maru Barrera, Alexandra Neville, Laura Purdon, Kelly Hancock
Objective: This qualitative substudy aimed to investigate the outcomes of sibling group interventions from the perspective of siblings of children with cancer and their caregivers. Method: Siblings were randomized to receive the Siblings Coping Together intervention (SibCT) or attention control (CG). In all, 30 participants, 18 siblings (average age = 11.89 years, 9 CG and 9 SibCT) and 12 caregivers (4 CG and 8 SibCT), were interviewed following group participation...
May 15, 2018: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/29767824/variability-in-verbal-and-nonverbal-communication-in-infants-at-risk-for-autism-spectrum-disorder-predictors-and-outcomes
#9
M Franchini, E Duku, V Armstrong, J Brian, S E Bryson, N Garon, W Roberts, C Roncadin, L Zwaigenbaum, I M Smith
Early communication impairment is among the most-reported first concerns in parents of young children with autism spectrum disorder (ASD). Using a parent-report questionnaire, we derived trajectory groups for early language and gesture acquisition in siblings at high risk for ASD and in children at low risk, during their first 2 years of life. Developmental skills at 6 months were associated with trajectory group membership representing growth in receptive language and gestures. Behavioral symptoms also predicted gesture development...
May 16, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29766438/sexual-orientation-differences-in-outpatient-psychiatric-treatment-and-antidepressant-usage-evidence-from-a-population-based-study-of-siblings
#10
Richard Bränström, Mark L Hatzenbuehler, Petter Tinghög, John E Pachankis
In the past two decades, population-based health surveys have begun including measures of sexual orientation, permitting estimates of sexual orientation disparities in psychiatric morbidity and differences in treatment utilization. The present study takes advantage of the high-quality, comprehensive nationwide health registry data available in Sweden to examine whether psychiatric outpatient treatment for various diagnoses and antidepressant medication usage are greater in sexual minority individuals compared to their siblings...
May 15, 2018: European Journal of Epidemiology
https://www.readbyqxmd.com/read/29765964/a-rare-syndrome-resembling-scleroderma-huriez-syndrome
#11
Nil Su Çelik, Şirin Yaşar, Sema Aytekin, Pembegül Güneş
Huriez syndrome, also referred to as "sclerotylosis," is a rare autosomal dominant genodermatosis characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nails. The development of aggressive squamous cell carcinoma (SCC) arising in the scleroatrophic area is also a distinctive feature of the syndrome. Early diagnosis is important due to the early onset, mostly in the third to fourth decades of life, and aggressive progress of SCC, which occurs in around 15% of affected individuals...
April 2018: Skin Appendage Disorders
https://www.readbyqxmd.com/read/29764912/mitochondrial-pitrm1-peptidase-loss-of-function-in-childhood-cerebellar-atrophy
#12
Yeshaya Langer, Adi Aran, Suleyman Gulsuner, Bassam Abu Libdeh, Paul Renbaum, Dario Brunetti, Pedro-Filipe Teixeira, Tom Walsh, Sharon Zeligson, Roberta Ruotolo, Rachel Beeri, Imad Dweikat, Maher Shahrour, Ariella Weinberg-Shukron, Fouad Zahdeh, Enrico Baruffini, Elzbieta Glaser, Mary-Claire King, Ephrat Levy-Lahad, Massimo Zeviani, Reeval Segel
OBJECTIVE: To identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes and cerebellar atrophy. METHODS: Identification of the underlying mutations by whole exome and whole genome sequencing. Consequences were examined in patients' cells and in yeast. RESULTS: Two brothers from a consanguineous Palestinian family presented with progressive spinocerebellar ataxia, mental retardation and psychotic episodes...
May 15, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29764872/development-and-testing-of-the-youth-alcohol-norms-survey-yans-instrument-to-measure-youth-alcohol-norms-and-psychosocial-influences
#13
Sharyn K Burns, Bruce Maycock, Janina Hildebrand, Yun Zhao, Steve Allsop, Roanna Lobo, Peter Howat
OBJECTIVES: This study aimed to develop and validate an online instrument to: (1) identify common alcohol-related social influences, norms and beliefs among adolescents; (2) clarify the process and pathways through which proalcohol norms are transmitted to adolescents; (3) describe the characteristics of social connections that contribute to the transmission of alcohol norms; and (4) identify the influence of alcohol marketing on adolescent norm development. SETTING: The online Youth Alcohol Norms Survey (YANS) was administered in secondary schools in Western Australia PARTICIPANTS: Using a 2-week test-retest format, the YANS was administered to secondary school students (n=481, age=13-17 years, female 309, 64...
May 14, 2018: BMJ Open
https://www.readbyqxmd.com/read/29763849/heart-rate-variability-as-candidate-endophenotype-of-social-anxiety-a-two-generation-family-study
#14
A Harrewijn, M J W Van der Molen, B Verkuil, S W Sweijen, J J Houwing-Duistermaat, P M Westenberg
BACKGROUND: Social anxiety disorder (SAD) is the extreme fear and avoidance of one or more social situations. The goal of the current study was to investigate whether heart rate variability (HRV) during resting state and a social performance task (SPT) is a candidate endophenotype of SAD. METHODS: In this two-generation family study, patients with SAD with their partner and children, and their siblings with partner and children took part in a SPT (total n = 121, 9 families, 3-30 persons per family, age range: 8-61 years, 17 patients with SAD)...
May 8, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29762913/an-online-compendium-of-cho-rna-seq-data-allows-identification-of-cho-cell-line-specific-transcriptomic-signatures
#15
Ankita Singh, Helene F Kildegaard, Mikael R Andersen
Chinese hamster ovary (CHO) cell lines can fold, assemble and modify proteins post-translationally to produce human-like proteins; as a consequence, it is the single most common expression systems for industrial production of recombinant therapeutic proteins. A thorough knowledge of cultivation conditions of different CHO cell lines has been developed over the last decade, but comprehending gene or pathway-specific distinctions between CHO cell lines at transcriptome level remains a challenge. To address these challenges, we compiled a compendium of 23 RNA-Seq studies from public and in-house data on CHO cell lines, i...
May 15, 2018: Biotechnology Journal
https://www.readbyqxmd.com/read/29762072/healthcare-users-experiences-of-communicating-with-healthcare-professionals-about-children-who-have-life-limiting-conditions-a-qualitative-systematic-review
#16
Stuart Ekberg, Natalie K Bradford, Anthony Herbert, Susan Danby, Patsy Yates
BACKGROUND: Globally, an estimated eight million children could benefit from palliative care each year. Effective communication about children with life-limiting conditions is well recognized as a critical component of high-quality pediatric palliative care. OBJECTIVE: To synthesize existing qualitative research exploring healthcare users' experiences of communicating with healthcare professionals about children with life-limiting conditions. DESIGN: The results of a systematic literature search were screened independently by two reviewers...
May 15, 2018: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/29761856/autoimmune-thyroiditis-following-hla-matched-sibling-hematopoietic-stem-cell-transplantation-for-wiskott-aldrich-syndrome
#17
Tristan Knight, Katherine Kotz, Süreyya Savaşan
WAS is a fatal X-linked combined immunodeficiency syndrome, the only cures for which are HSCT or gene therapy. AID occur in up to 72% of patients with WAS who do not receive HSCT, likely arising secondary to impaired multilineage immune autoregulatory function; AITD is not typically seen. In this article, we describe the case of a male patient who underwent HLA-matched HSCT for WAS at the age of 5 months, with his sister (a WAS carrier) acting as his donor and subsequently developed AITD 12 months post-transplant, with marked elevation of antithyroid peroxidase antibody titer...
May 15, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29760432/microcephaly-short-stature-and-limb-abnormality-disorder-due-to-novel-autosomal-biallelic-donson-mutations-in-two-german-siblings
#18
Solveig Schulz, Martin A Mensah, Heike de Vries, Rosemarie Fröber, Bernd Romeike, Uwe Schneider, Stephan Borte, Detlev Schindler, Karim Kentouche
Recently, variants in DONSON have been reported to cause different disorders of the microcephalic primordial dwarfism spectrum. Using whole-exome sequencing, we identified two novel, compound heterozygous DONSON variants in a pair of siblings, one of whom was previously diagnosed with Fanconi anemia. This occurred because the present cases exhibited clinical findings in addition to those of the microcephalic primordial dwarfism disorder, including severe limb malformations. These findings suggest that the DONSON and Fanconi anemia proteins could have supplementary roles in developmental processes as they have in the maintenance of genomic integrity, resulting in related disease phenotypes...
May 14, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29759035/a-novel-missense-mutation-in-slc5a5-gene-in-a-sudanese-family-with-congenital-hypothyroidism
#19
Yui Watanabe, Reham Shareef Ebrhim, Mohamed A Abdullah, Roy E Weiss
Thyroid hormone synthesis requires the presence of iodide. The sodium iodide symporter (NIS) is a glycoprotein which mediates the active uptake of iodide from the blood stream into the thyroid grand. NIS defects due to SLC5A5 gene mutations are known to cause congenital hypothyroidism (CH). The proposita is a 28-year-old female whose origin is the North Sudan where neonatal screening for CH is not available. She presented with severe constipation and a goiter at the age of 40 days. Laboratory testing confirmed CH and she was started on levothyroxine (L-T4)...
May 15, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29757125/cross-cultural-comparison-of-genetic-and-cultural-transmission-of-smoking-initiation-using-an-extended-twin-kinship-model
#20
Hermine H Maes, Kate Morley, Michael C Neale, Kenneth S Kendler, Andrew C Heath, Lindon J Eaves, Nicholas G Martin
BACKGROUND: Considerable evidence from twin and adoption studies indicates that genetic and shared environmental factors play a role in the initiation of smoking behavior. Although twin and adoption designs are powerful to detect genetic and environmental influences, they do not provide information on the processes of assortative mating and parent-offspring transmission and their contribution to the variability explained by genetic and/or environmental factors. METHODS: We examined the role of genetic and environmental factors in individual differences for smoking initiation (SI) using an extended kinship design...
May 14, 2018: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
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