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https://www.readbyqxmd.com/read/28934044/surviving-the-loss-of-a-child-a-mexican-american-s-story
#1
Steven L Baumann, Martha Velasco-Whetsell
This paper tells the story of a mother's loss of her 10-year-old daughter from cancer. It is in part a pain and suffering narrative and a story of remarkable post-loss growth and transformation. It is a story told for busy parents and multitasking nurses, to all of us who need to relearn how to be attentive to others, particularly our children. The woman who tells the story is one of the authors (M.V.-W.); she is a Mexican-American. The paper is based on two interviews of M.V.-W., using questions similar to those used by one of the authors (S...
October 2017: Nursing Science Quarterly
https://www.readbyqxmd.com/read/28933136/coexistence-of-spondyloarthritis-and-joint-hypermobility-syndrome-rare-or-unknown-association
#2
J B Pinto Carneiro, T Pinto de Souza, T M L Antunes de Oliveira, S L Euzébio Ribeiro
We report two cases of siblings presenting coexisting non-radiographic axial spondyloartrhritis and joint hypermobility syndrome, complaining of back pain with morning stiffness, enthesitis, peripheral arthralgia, high erythrocyte sedimentation rate and C-reactive protein level and positive HLA-B27. The association of these two conditions is rare, but especially interesting in view of their contrasting features, one causing axial skeleton stiffness, the other a wider range of peripheral joint movements. Coexistence of these two opposite disorders causes confusion in diagnosis and management, resulting in lower quality of life for patients, as they are in pain from the early stages...
September 21, 2017: Reumatismo
https://www.readbyqxmd.com/read/28931307/autism-spectrum-disorder-screening-with-the-cbcl-1%C3%A2-5-findings-for-young-children-at-high-risk-for-autism-spectrum-disorder
#3
Leslie A Rescorla, Breanna M Winder-Patel, Sarah J Paterson, Juhi Pandey, Jason J Wolff, Robert T Schultz, Joseph Piven
The screening power of the CBCL/1½-5's Withdrawn and Diagnostic and Statistical Manual of Mental Disorders-Pervasive Developmental Problems (DSM-PDP) scales to identify children diagnosed with autism spectrum disorder at 24 months was tested in a longitudinal, familial high-risk study. Participants were 56 children at high risk for autism spectrum disorder due to an affected older sibling (high-risk group) and 26 low-risk children with a typically developing older sibling (low-risk group). At 24 months, 13 of the 56 high-risk children were diagnosed with autism spectrum disorder, whereas the other 43 were not...
September 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28931198/older-siblings-are-at-increased-risk-for-foreign-bodies
#4
Laura H Swibel Rosenthal, Matthew R Bartindale, Zachary C Fridirici, Natalie A Papillon
A prospective, case-control study was performed to describe the role that siblings play in foreign bodies of the head and neck and to recognize situations in which children are most at risk for foreign bodies. Any child or adolescent (0 to 17 years old) with a foreign body removed from the head or neck was included. The data collected included location of the foreign body, location of acquisition (e.g., home), and the number of and ages of siblings. Controls were matched by age, sex, and location of removal (clinic, operating room, or emergency department)...
September 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28930067/prenatal-exposure-effects-on-early-adolescent-substance-use-preliminary-evidence-from-a-genetically-informed-bayesian-approach
#5
L Cinnamon Bidwell, Kristine Marceau, Leslie A Brick, Hollis C Karoly, Alexandre A Todorov, Rohan H Palmer, Andrew C Heath, Valerie S Knopik
OBJECTIVE: Given the controversy surrounding the question of whether there are direct or causal effects of exposure to maternal smoking during pregnancy (SDP) on offspring outcomes such as substance use during the adolescent years, we sought to test, on a preliminary basis, within- and between-family associations of SDP and initiation of substance use early in adolescence (by age 15 years) using a discordant sibling design. METHOD: We used a sibling-comparison approach in a sample of 173 families drawn from the state of Missouri, wherein mothers were discordant for smoking behaviors between two different pregnancies, to test for associations of SDP and initiation of substance use in a younger adolescent cohort...
September 2017: Journal of Studies on Alcohol and Drugs
https://www.readbyqxmd.com/read/28929832/cngb3-mutations-cause-severe-rod-dysfunction
#6
J Maguire, M McKibbin, K Khan, S Kohl, M Ali, D McKeefry
PURPOSE: Congenital achromatopsia or rod monochromatism is a rare autosomal recessive condition defined by a severe loss of cone photoreceptor function in which rods purportedly retain normal or near-to-normal function. This report describes the results of electroretinography in two siblings with CNGB3-associated achromatopsia. METHODS: Full field light- and dark-adapted electroretinograms (ERGs) were recorded using standard protocols detailed by the International Society for Clinical Electrophysiology of Vision (ISCEV)...
September 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28927462/generation-of-special-autosomal-dominant-polycystic-kidney-disease-ipscs-with-the-capability-of-functional-kidney-like-cell-differentiation
#7
Jiahui Huang, Shumin Zhou, Xin Niu, Bin Hu, Qing Li, Feng Zhang, Xue Zhang, Xiujuan Cai, Yuanlei Lou, Fen Liu, Chenming Xu, Yang Wang
BACKGROUND: Human induced pluripotent stem cells (iPSCs) have been verified as a powerful cell model for the study of pathogenesis in hereditary disease. Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations of PKD or non-PKD genes. The pathogenesis of ADPKD remains unexplored because of the lack of a true human cell model. METHODS: Six ADPKD patients and four healthy individuals were recruited as donors of somatic cells from a Chinese ADPKD family without mutations of the PKD genes but carrying SAMSN1 gene deletion...
September 19, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28927137/atypical-chronic-myeloid-leukemia-with-isochromosome-x-p10-a-case-report
#8
Masahide Yamamoto, Sayaka Suzuki, Jun-Ichi Mukae, Keisuke Tanaka, Ken Watanabe, Gaku Oshikawa, Tetsuya Fukuda, Naomi Murakami, Osamu Miura
Atypical chronic myeloid leukemia (aCML) is a rare subtype of myelodysplastic/myeloproliferative neoplasm (MDS/MPN). Although recurrent chromosomal and genetic abnormalities are frequently observed in aCML, none are specific to this type of leukemia. The present study reported a case of aCML associated with i(X)(p10), a rare recurrent chromosomal abnormality of hematological malignancy. A 40-year-old female was referred to the Tokyo Medical and Dental University Hospital (Tokyo, Japan) due to slight leukocytosis and anemia...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28926858/-psychometric-properties-of-the-german-version-of-the-sibling-perception-questionnaire-spq
#9
Ines Baumann, Mandy Niemitz, Lutz Goldbeck
The Sibling Perception Questionnaire (SPQ) measures the impact a cancer disease of a child has on a sibling's interpersonal relations in the family, communication, intrapersonal perceptions and fear of the disease. Aim of this study was the psychometric evaluation of the German version of the SPQ. For this purpose, data of 216 healthy siblings including 164 self-reports and 212 parent reports were gathered. For further analyses the 4 subscales "interpersonal difficulties", "intrapersonal difficulties", "open communication" and "fear of the disease" with overall 23 items were evaluated...
September 19, 2017: Psychotherapie, Psychosomatik, Medizinische Psychologie
https://www.readbyqxmd.com/read/28926334/family-phenotypic-heterogeneity-caused-by-mitochondrial-dna-mutation-a3243g
#10
Daniela Alves, Maria Eufémia Calmeiro, Carmo Macário, Rosa Silva
Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient's mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge...
August 31, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28925585/resemblance-in-physical-activity-levels-the-portuguese-sibling-study-on-growth-fitness-lifestyle-and-health
#11
S Pereira, P T Katzmarzyk, T N Gomes, M Souza, R N Chaves, F K Santos, D Santos, A Bustamante, T V Barreira, D Hedeker, J A Maia
OBJECTIVES: To investigate the relationships of biological, behavioral, familial, and environmental characteristics with siblings´ physical activity (PA) levels as well as the intrapair resemblance in PA. METHODS: The sample comprises 834 (390 females) biological siblings [brother-brother (BB), sister-sister (SS), brother-sister (BS)] aged 9 to 20 years. Total PA index (TPAI) was estimated by questionnaire. Information on potential behavioral, familial, and environmental correlates was obtained by self-report; body mass index (BMI), biological maturation, and physical fitness were measured...
September 19, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28923404/hla-g-coding-region-polymorphism-is-skewed-in-autistic-spectrum-disorders
#12
Franca R Guerini, Elisabetta Bolognesi, Matteo Chiappedi, Enrico Ripamonti, Alessandro Ghezzo, Michela Zanette, Stefano Sotgiu, Maria Martina Mensi, Alessandra Carta, Maria Paola Canevini, Milena Zanzottera, Cristina Agliardi, Andrea S Costa, Umberto Balottin, Mario Clerici
Different isoforms of HLA-G protein are endowed with a differential ability to induce allogenic tolerance during pregnancy. As prenatal immune activation is suggested to play a role in the onset of autistic spectrum disorders (ASD), we evaluated HLA G*01:01-*01:06 allelic polymorphism in a cohort of Italian children affected by ASD (N=111) their mothers (N=81), and their healthy siblings (N=39). DNA sequencing analysis of HLA-G exon 2, 3 and 4 was used to obtain HLA-G allelic frequencies; alleles distribution was compared with that of two control groups of Caucasoid couples of multiparous women and their partners from Brazil and Denmark...
September 15, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28923156/functional-constructivism-in-search-of-formal-descriptors
#13
Irina Trofimova
The Functional Constructivism (FC) paradigm is an alternative to behaviorism and considers behavior as being generated every time anew, based on an individual's capacities, environmental resources and demands. Walter Freeman's work provided us with evidence supporting the FC principles. In this paper we make parallels between gradual construction processes leading to the formation of individual behavior and habits, and evolutionary processes leading to the establishment of biological systems. Referencing evolutionary theory, several formal descriptors of such processes are proposed...
October 2017: Nonlinear Dynamics, Psychology, and Life Sciences
https://www.readbyqxmd.com/read/28922545/neural-responses-to-linguistic-stimuli-in-children-with-and-without-autism-spectrum-disorder
#14
Kayla H Finch, Helen Tager-Flusberg, Charles A Nelson
Atypical neural responses to language have been found in toddlers with autism spectrum disorder (ASD) and in their unaffected siblings. However, given that language difficulties are often seen in these children, it is difficult to interpret whether these neural differences are a result of the diagnosis of ASD or impairments in their language abilities. In this current study, we recorded event-related potentials (ERPs) from four groups of 36-month-olds: low-risk control (LRC), high-risk for ASD defined as having an older sibling with ASD (HRA) but who do not have ASD or milder autism-like symptoms (HRA-Typ), HRA children who do not have ASD but exhibit milder autism-like symptoms (HRA-Atyp), and HRA children diagnosed with ASD (ASD)...
September 18, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28920109/papillon-lef%C3%A3-vre-syndrome-a-series-of-three-cases-in-the-same-family-and-a-literature-review
#15
Jasbir D Upadhyaya, Dustin Pfundheller, Mohammed N Islam, Indraneel Bhattacharyya
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder that exhibits palmoplantar keratosis and early severe periodontitis. The oral disease affects both the primary and permanent dentitions leading to premature exfoliation of teeth. Various etiologic factors, such as genetic mutations, immunologic alterations, and bacteria have been implicated in PLS. Genetic mutations leading to the loss of function of cathepsin C (CTSC) gene, located on chromosome 11q14, is considered pivotal in this condition...
2017: Quintessence International
https://www.readbyqxmd.com/read/28919362/a-homozygote-trex1-mutation-in-two-siblings-with-different-phenotypes-chilblains-and-cerebral-vasculitis
#16
Rabia Miray Kisla Ekinci, Sibel Balci, Atil Bisgin, Derya Ufuk Altintas, Mustafa Yılmaz
Three prime repair exonuclease 1 degrades single and double stranded DNA with 3'-5' nuclease activity and its mutations are related to type 1 IFN mediated autoinflammation due to accumulated intracellular nucleic acids. To date, several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome, familial chilblain lupus, retinal vasculopathy-cerebral leukodystrophy have been reported with TREX1 mutations. Chilblain lupus is a skin disease characterized by blue-reddish coloring, swelling or ulcers on acral regions of body such as fingertips, heels, nose and auricles...
September 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28919115/global-regional-and-national-under-5-mortality-adult-mortality-age-specific-mortality-and-life-expectancy-1970-2016-a-systematic-analysis-for-the-global-burden-of-disease-study-2016
#17
(no author information available yet)
BACKGROUND: Detailed assessments of mortality patterns, particularly age-specific mortality, represent a crucial input that enables health systems to target interventions to specific populations. Understanding how all-cause mortality has changed with respect to development status can identify exemplars for best practice. To accomplish this, the Global Burden of Diseases, Injuries, and Risk Factors Study 2016 (GBD 2016) estimated age-specific and sex-specific all-cause mortality between 1970 and 2016 for 195 countries and territories and at the subnational level for the five countries with a population greater than 200 million in 2016...
September 16, 2017: Lancet
https://www.readbyqxmd.com/read/28918693/cognitive-control-networks-in-ocd-a-resting-state-connectivity-study-in-unmedicated-patients-with-obsessive-compulsive-disorder-and-their-unaffected-relatives
#18
Froukje E de Vries, Stella J de Wit, Odile A van den Heuvel, Dick J Veltman, Danielle C Cath, Anton J L M van Balkom, Ysbrand D van der Werf
OBJECTIVES: Executive network deficits are putative neurocognitive endophenotypes for obsessive-compulsive disorder (OCD). Yet, unlike alterations in fronto-striatal and limbic connectivity, connectivity in the fronto-parietal (FPN) and cingulo-opercular (CON) networks involved in cognitive control has received little attention. METHODS: The coherence of FPN, CON and fronto-limbic networks was investigated in 39 unmedicated OCD patients, 16 of their unaffected siblings and 36 healthy controls using resting-state functional-connectivity MRI and a seed-based analysis approach...
September 18, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/28918671/long-term-outcomes-of-severe-combined-immunodeficiency-therapy-implications
#19
Jennifer Heimall, Morton J Cowan
Newborn screening has led to a better understanding of the prevalence of Severe Combined Immunodeficiency (SCID) overall and in terms of specific genotypes. Survival has improved following hematopoietic stem cell transplantation (HCT) with the best outcomes seen following use of a matched sibling donor. However, questions remain regarding the optimal alternative donor source, appropriate use of conditioning and the impact of these decisions on immune reconstitution and other late morbidities. Areas covered: The currently available literature reporting late effects after HCT for SCID and use of alternative therapies including enzyme replacement, alternative donors and gene therapy are reviewed...
September 18, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28916276/individual-background-factors-associated-with-vaccination-for-seasonal-influenza-in-japanese-schoolchildren
#20
Mitsuo Uchida
There is little evidence about how individual background factors affect seasonal influenza vaccination of children. At the end of the 2014/2015 influenza season, a cross-sectional questionnaire survey of all elementary schoolchildren in 29 schools in Matsumoto City, Japan, was conducted to obtain information about vaccine uptake activity and individual background factors. Of the 10,524 subjects who responded, 5063 (48.1%) had been vaccinated. Grade in school, underlying disease, number of siblings, and diagnosis with and vaccination for influenza during the previous influenza season differed significantly in vaccinated and unvaccinated groups...
September 12, 2017: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
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