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https://www.readbyqxmd.com/read/28721677/the-pervasive-nature-of-uncertainty-a-qualitative-study-of-patients-with-advanced-cancer-and-their-informal-caregivers
#1
Valerie Shilling, Rachel Starkings, Valerie Jenkins, Lesley Fallowfield
PURPOSE: The aim of this study was to explore the impact of extended cancer survival on broader aspects of life and wellbeing such as occupational, financial and family life for patients with advanced cancer and their nominated informal caregivers. METHODS: In-depth qualitative interviews were transcribed verbatim. A thematic framework was developed from an initial process of open coding and tested iteratively as new data were collected. RESULTS: Twenty-four patient-caregiver dyads with advanced ovarian (9), melanoma (9) or lung cancer (6)...
July 18, 2017: Journal of Cancer Survivorship: Research and Practice
https://www.readbyqxmd.com/read/28719777/sex-ratio-at-birth-in-vietnam-results-from-data-in-chililab-hdss-2004-to-2013
#2
Vui Thi Le, Duc Minh Duong, Anh Duy Nguyen, Chuong Canh Nguyen, Ha Thi Thu Bui, Cuong Viet Pham, Thi Minh Le, Bich Huu Tran
This study aimed to explore the association of demographic and socioeconomic characteristics and imbalanced sex ratio at birth (SRB) in Chi Linh district, Hai Duong. The data were collected from a longitudinal study using a community-based periodic, referred as Chi Linh Health and Demographic Surveillance System (CHILILAB HDSS) during 2004 to 2013. A total of 7568 children were analyzed. Results showed that SRB in Chi Linh dramatically increased to the imbalanced sex ratio (114.6 boys to 100 girls) by 2013...
July 2017: Asia-Pacific Journal of Public Health
https://www.readbyqxmd.com/read/28719028/sales-performance-and-athletic-outcome-in-young-thoroughbreds-with-pericarditis
#3
K A Sprayberry, N Slovis
BACKGROUND: Pericarditis is a sporadic but important cause of critical illness in horses of all ages. There is limited information on whether Thoroughbred horses that survive pericarditis are able to reach athletic potential. OBJECTIVES: To determine how pericarditis affected horses that had the disease as young animals with regard to selling price in public sales and the ability to race successfully. STUDY DESIGN: Retrospective case series...
July 18, 2017: Equine Veterinary Journal
https://www.readbyqxmd.com/read/28718081/blastocyst-utilization-rates-after-continuous-culture-in-two-commercial-single-step-media-a-prospective-randomized-study-with-sibling-oocytes
#4
Ioannis A Sfontouris, Efstratios M Kolibianakis, George T Lainas, Christos A Venetis, George K Petsas, Basil C Tarlatzis, Tryfon G Lainas
PURPOSE: The aim of this study is to determine whether blastocyst utilization rates are different after continuous culture in two different commercial single-step media. METHODS: This is a paired randomized controlled trial with sibling oocytes conducted in infertility patients, aged ≤40 years with ≥10 oocytes retrieved assigned to blastocyst culture and transfer. Retrieved oocytes were randomly allocated to continuous culture in either Sage one-step medium (Origio) or Continuous Single Culture (CSC) medium (Irvine Scientific) without medium renewal up to day 5 post oocyte retrieval...
July 17, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28717665/identification-of-an-alu-element-mediated-deletion-in-the-promoter-region-of-gne-in-siblings-with-gne-myopathy
#5
Jennifer Garland, Joshi Stephen, Bradley Class, Angela Gruber, Carla Ciccone, Aaron Poliak, Christina P Hayes, Vandana Singhal, Christina Slota, John Perreault, Ralitza Gavrilova, Joseph A Shrader, Prashant Chittiboina, Galen Joe, John Heiss, William A Gahl, Marjan Huizing, Nuria Carrillo, May Christine V Malicdan
BACKGROUND: GNE myopathy is a rare genetic disease characterized by progressive muscle atrophy and weakness. It is caused by biallelic mutations in the GNE gene that encodes for the bifunctional enzyme, uridine diphosphate (UDP)-N-acetylglucosamine (GlcNAc) 2-epimerase/N-acetylmannosamine (ManNAc) kinase. Typical characteristics of GNE myopathy include progressive myopathy, first involving anterior tibialis muscle and sparing the quadriceps, and rimmed vacuoles on muscle biopsy. Identifying biallelic mutations by sequencing of the GNE gene confirms the diagnosis of GNE myopathy...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28717528/the-relationship-between-werner-syndrome-and-sinonasal-malignant-melanoma-two-sibling-cases-of-werner-syndrome-with-malignant-melanoma
#6
Yoshinori Kadowaki, Satoru Kodama, Munehito Moriyama, Masashi Suzuki
Werner syndrome (WS) is an autosomal recessive disease characterized by premature aging. Malignant tumors such as thyroid carcinoma and malignant melanoma occur frequently in WS patients. We describe 2 siblings with WS who suffered from sinonasal malignant melanoma (MM). Both patients initially experienced nasal obstruction and recurrent nasal bleeding and died within 2 years of the diagnosis of MM. Otolaryngologists should recognize that WS patients have a high risk for head and neck malignant disease, particularly sinonasal MM, even if they are aged below the expected age range and undergo periodic examinations...
2017: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/28717365/behavioural-problems-in-children-with-46xy-disorders-of-sex-development
#7
Nalini M Selveindran, Syed Zulkifli Syed Zakaria, Muhammad Yazid Jalaludin, Rahmah Rasat
The aim of this study is to determine the behavioural problems of children with 46XY disorders of sex development (DSD) with genital ambiguity and to identify the risk factors that may influence behaviour. The 27 participants (aged 6-18 years) consisted of 21 patients raised as boys and 6 patients raised as girls. Control data were obtained from a representative sibling of each patient who was matched for age and gender. The study tool used was the Child Behaviour Checklist (CBCL), which is a parent-administered questionnaire...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28715919/lived-experiences-of-jordanian-mothers-caring-for-a-child-with-disability
#8
Mohammad S Nazzal, Omar M Al-Rawajfah
PURPOSE: Caring for a child with a disability in the family is associated with a major increase in care-giving demands and burden. This qualitative study explores the perspectives, challenges and adaptations of Jordanian mothers living with a child with disability. METHODS: Phenomenological qualitative tradition was utilized. Seven Jordanian mothers of children with disability were purposefully selected as having rich experiences for caring for a child with a disability...
July 18, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28713423/discovering-the-unexpected-with-the-utilization-of-ngs-in-diagnostics-of-non-syndromic-hearing-loss-disorders-the-family-case-of-ildr1-dependent-hearing-loss-disorder
#9
Jernej Kovač, Gašper Klančar, Katarina Trebušak Podkrajšek, Saba Battelino
Sensorineural hearing loss (SNHL) is a heterogeneous family of hearing disabilities with congenital (including genetic) as well as acquired etiology. Congenital SNHL of genetic etiology is further sub-divided into autosomal dominant, autosomal recessive and X-linked SNHL. More than 60 genes are involved in the etiology of autosomal recessive non-syndromic hearing loss (ARNSHL) commonly manifesting as heterogeneous pre-lingual profound to severe non-progressive clinical phenotype. ILDR1-dependent ARNSHL (DFNB42, OMIM: # 609646) is a very rare sub-type of hearing disability, with unknown prevalence, caused by function-damaging genetic variants in ILDR1 gene reported in families of Middle-Eastern origin...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28713221/heritability-of-the-affective-response-to-exercise-and-its-correlation-to-exercise-behavior
#10
Nienke M Schutte, Ineke Nederend, James J Hudziak, Meike Bartels, Eco J C de Geus
OBJECTIVES: Individual differences in adolescent exercise behavior are strongly influenced by genetic factors. The affective response to exercise is a potential source of these genetic influences. To test its role in the motivation to exercise, we estimated the heritability of the affective responses during and after exercise and the overlap with the genetic factors influencing regular voluntary exercise behavior. DESIGN: 226 twin pairs and 38 siblings completed two submaximal exercise tests on a cycle ergometer and a treadmill and a maximal exercise test on a cycle ergometer...
July 2017: Psychology of Sport and Exercise
https://www.readbyqxmd.com/read/28712006/an-inframe-trinucleotide-deletion-in-mtrr-exon-1-is-associated-with-the-risk-of-spina-bifida
#11
Jun Zhang, Xiao-Lu Dai, Gui-Cen Liu, Juan Wang, Xue-Yi Ren, Mu-Hua Jin, Nan-Nan Mi, Shu-Qin Wang
Maternal genetic variants of enzymes in folate-homocysteine metabolic network are significantly correlative with the risk of spina bifida. To survey the genetic causality, the genotypes of three women having spina bifida fetuses from two unrelated Chinese families were screened in candidate alleles. Polymerase chain reaction, capillary electrophoresis and Sanger sequencing were employed to recognize the allelic variation. A trinucleotide deletion (c.4_6delAGG) was identified in the first exon of MTRR. All the three women showed the novel clinical variation including one heterozygous and two homozygous...
July 15, 2017: Neuromolecular Medicine
https://www.readbyqxmd.com/read/28709907/the-details-of-structural-disconnectivity-in-psychotic-disorder-a-family-based-study-of-non-fa-diffusion-weighted-imaging-measures
#12
Stijn Michielse, Ed Gronenschild, Patrick Domen, Jim van Os, Machteld Marcelis
BACKGROUND: Diffusion Tensor Imaging (DTI) studies in psychotic disorder have shown reduced FA, often interpreted as disturbed white matter integrity. The observed 'dysintegrity' may be of multifactorial origin, as changes in FA are thought to reflect a combination of changes in myelination, fiber organization and number of axons. Examining the structural substrate of the diffusion tensor in individuals with (risk for) psychotic disorder may provide better understanding of the underlying structural changes...
July 11, 2017: Brain Research
https://www.readbyqxmd.com/read/28709842/what-compatibility-in-2017-for-the-haematopoietic-stem-cell-transplantation
#13
X Lafarge
The diversification of potential donors to perform stem cell allografts now enables to propose a compatible graft cell source adapted to the different clinical situations. Transplants with a geno-identical sibling donor, otherwise with the most HLA-compatible unrelated donor, remain the first-line solutions. Alternative transplants allow to graft patients having no donors in international registries, owing to the rarity of their HLA typing. They are carried out with fairly incompatible grafts and are therefore limited by the existence in the recipient of preformed anti-HLA antibodies which predispose to their rejection...
July 11, 2017: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
https://www.readbyqxmd.com/read/28708524/follicular-waves-and-hormonal-profiles-during-the-estrous-cycle-of-carriers-and-non-carriers-of-the-trio-allele-a-major-bovine-gene-for-high-ovulation-and-fecundity
#14
Alvaro García-Guerra, Brian W Kirkpatrick, Milo C Wiltbank
A high fecundity bovine genotype has recently been discovered and genetic mapping indicates evidence for segregation of a major gene with influence on ovulation rate located on bovine chromosome 10. Cattle carrying the high fecundity allele, referred to as the Trio allele, have multiple ovulations while half-sibling, non-carriers generally have single ovulations. The present study was designed to evaluate follicle wave patterns and associated circulating hormones during the estrous cycle of Trio allele carriers (n = 7) and non-carrier half-sib controls (n = 5)...
June 1, 2017: Theriogenology
https://www.readbyqxmd.com/read/28708114/one-size-does-not-fit-all-contextualising-family-physical-activity-using-a-write-draw-show-and-tell-approach
#15
Robert J Noonan, Stuart J Fairclough, Zoe R Knowles, Lynne M Boddy
Understanding family physical activity (PA) behaviour is essential for designing effective family-based PA interventions. However, effective approaches to capture the perceptions and "lived experiences" of families are not yet well established. The aims of the study were to: (1) demonstrate how a "write, draw, show and tell" (WDST) methodological approach can be appropriate to family-based PA research, and (2) present two distinct family case studies to provide insights into the habitual PA behaviour and experiences of a nuclear and single-parent family...
July 14, 2017: Children
https://www.readbyqxmd.com/read/28707754/non-sibling-hematopoietic-stem-cell-transplantation-using-myeloablative-conditioning-regimen-in-children-with-maroteaux-lamy-syndrome-a-brief-report
#16
Maryam Behfar, S Sharareh Dehghani, Tahereh Rostami, Ardeshir Ghavamzadeh, Amir Ali Hamidieh
Maroteaux-Lamy syndrome is a rare inherited lysosomal storage disorder with a progressive course. HSCT is a curable option for treatment in these patients. The following report describes our experience in HSCT for three patients with Maroteaux-Lamy syndrome using non-sibling donors. All of the patients received the same myeloablative regimen consisting of intravenous busulfan, cyclophosphamide, and rabbit antithymocyte globulin. Patients underwent HSCT from haploidentical other-related (n=1), full-matched other-related (n=1), and one-locus-mismatched unrelated donor...
August 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28707301/the-role-of-wing-geometric-morphometrics-in-the-identification-of-sandflies-within-the-subgenus-lutzomyia
#17
B F Giordani, A J Andrade, E A B Galati, R Gurgel-Gonçalves
The Lutzomyia subgenus (Diptera: Psychodidae) includes sibling species with morphologically indistinguishable females. The aims of this study were to analyse variations in the size and shape of wings of species within the Lutzomyia subgenus and to assess whether these analyses might be useful in their identification. Wings (n = 733) of 18 species deposited in Brazilian collections were analysed by geometric morphometrics, using other genera and subgenera as outgroups. Shape variation was summarized in multivariate analyses and differences in wing size among species were tested by analysis of variance...
July 14, 2017: Medical and Veterinary Entomology
https://www.readbyqxmd.com/read/28707155/and-what-about-siblings-a-longitudinal-analysis-of-sibling-effects-on-youth-s-intergroup-attitudes
#18
Katharina Eckstein, Jan Šerek, Peter Noack
Within the process of political socialization, the family is of particular importance. Apart from parents, however, little is known about the role of other close family members. The present study examined if siblings affect each other's intergroup attitudes (i.e., intolerance towards immigrants, social dominance orientation). Drawing on a sample of 362 sibling dyads (older siblings: M age = 17.77, 53.6% female; younger siblings: M age = 13.61, 61.3% female), the results showed that older siblings' intergroup attitudes predicted younger siblings' attitudes, but this effect was moderated by gender...
July 13, 2017: Journal of Youth and Adolescence
https://www.readbyqxmd.com/read/28706084/rationale-and-protocol-for-the-after-diabetes-diagnosis-research-support-system-address-an-incident-and-high-risk-type-1-diabetes-uk-cohort-study
#19
Helen C Walkey, Akaal Kaur, Vassiliki Bravis, Ian F Godsland, Shivani Misra, Alistair J K Williams, Polly J Bingley, David B Dunger, Nick Oliver, Desmond G Johnston
INTRODUCTION: Type 1 diabetes is heterogeneous in its presentation and progression. Variations in clinical presentation between children and adults, and with ethnic group warrant further study in the UK to improve understanding of this heterogeneity. Early interventions to limit beta cell damage in type 1 diabetes are undergoing evaluation, but recruitment is challenging. The protocol presented describes recruitment of people with clinician-assigned, new-onset type 1 diabetes to understand the variation in their manner of clinical presentation, to facilitate recruitment into intervention studies and to create an open-access resource of data and biological samples for future type 1 diabetes research...
July 12, 2017: BMJ Open
https://www.readbyqxmd.com/read/28704350/measles-outbreak-minnesota-april-may-2017
#20
Victoria Hall, Emily Banerjee, Cynthia Kenyon, Anna Strain, Jayne Griffith, Kathryn Como-Sabetti, Jennifer Heath, Lynn Bahta, Karen Martin, Melissa McMahon, Dave Johnson, Margaret Roddy, Denise Dunn, Kristen Ehresmann
On April 10, 2017, the Minnesota Department of Health (MDH) was notified about a suspected measles case. The patient was a hospitalized child aged 25 months who was evaluated for fever and rash, with onset on April 8. The child had no history of receipt of measles-mumps-rubella (MMR) vaccine and no travel history or known exposure to measles. On April 11, MDH received a report of a second hospitalized, unvaccinated child, aged 34 months, with an acute febrile rash illness with onset on April 10. The second patient's sibling, aged 19 months, who had also not received MMR vaccine, had similar symptoms, with rash onset on March 30...
July 14, 2017: MMWR. Morbidity and Mortality Weekly Report
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