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H Hou, Y H Yao, J Lu, P F Xiao, X N Bian, H Liu, D X Hu, J Ling, J Li, Z Zhai, L J Kong, S Y Hu
Objective: To evaluate the efficiency and safety of low intensity conditional regimen for children with Fanconi anemia (FA) receiving allogenic hematopoietic stem cells transplantation (allo-HSCT). Methods: Four patients diagnosed as Fanconi anemia were enrolled in this study. One patient received HLA-identical sibling donor hematopoietic stem cell transplantation, two patients underwent unrelated donor matched (UD) HSCT, and one patient received unrelated cord blood transplantation. The conditional regimen consisted of Busulfan with low dose of cyclophosphamide...
March 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
S W Yang, R J Ma, J J Zhao, H F Zhong, X L Yuan, L Jiang, J Yang, P C Lei, Y Zhang, Y W Fu, D M Wan, Z M Zhu
Objective: To evaluate the efficacy of allogeneic hematopoietic stem cell transplantation (allo-HSCT) from different donors as first-line treatment for children and adolescents with severe aplastic anemia (SAA) . Methods: The clinical data of 79 children and adolescents with SAA diagnosed from January 2013 to December 2016 in Henan Province were retrospectively analyzed. There were 50 males and 29 females, with a median age of 14(4-18) years. 40 cases received matched sibling transplantation (MSD-HSCT), 17 with unrelated donor transplantation (UD-HSCT), and 22 with haploidentical transplantation (haplo-HSCT)...
March 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
Meghan R Swanson, Mark D Shen, Jason J Wolff, Jed T Elison, Robert W Emerson, Martin A Styner, Heather C Hazlett, Kinh Truong, Linda R Watson, Sarah Paterson, Natasha Marrus, Kelly N Botteron, Juhi Pandey, Robert T Schultz, Stephen R Dager, Lonnie Zwaigenbaum, Annette M Estes, Joseph Piven
BACKGROUND: Younger siblings of children with autism spectrum disorder (ASD) are themselves at increased risk for ASD and other developmental concerns. It is unclear if infants who display developmental concerns, but are unaffected by ASD, share similar or dissimilar behavioral and brain phenotypes to infants with ASD. Most individuals with ASD exhibit heterogeneous difficulties with language, and their receptive-expressive language profiles are often atypical. Yet, little is known about the neurobiology that contributes to these language difficulties...
November 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
Amanda C Smith, Yoko Ito, Afsana Ahmed, Jeremy A Schwartzentruber, Chandree L Beaulieu, Erika Aberg, Jacek Majewski, Dennis E Bulman, Karina Horsting-Wethly, Diana Vermunt-de Koning, Richard J Rodenburg, Kym M Boycott, Lynette S Penney
Primary CoQ10 deficiency is a clinically and genetically heterogeneous, autosomal recessive disorder resulting from mutations in genes involved in the synthesis of coenzyme Q10 (CoQ10 ). To date, mutations in nine proteins required for the biosynthesis of CoQ10 cause CoQ10 deficiency with varying clinical presentations. In 2009 the first patient with mutations in COQ9 was reported in an infant with a neonatal-onset, primary CoQ10 deficiency with multi-system disease. Here we describe four siblings with a previously undiagnosed lethal disorder characterized by oligohydramnios and intrauterine growth restriction, variable cardiomyopathy, anemia, and renal anomalies...
March 20, 2018: Journal of Inherited Metabolic Disease
Josephine Feliciano, Breanna Becker, Manish Shukla, Joann Bodurtha
BACKGROUND: The risk factors, diagnosis, management, and outcomes for lung cancer (LC) are a family experience. Genetic and environmental factors interact to predispose certain groups to LC, including family member, and the family or caregiving unit experiences the disease course as an interdependent group. This qualitative study examined the concerns and preferences of LC patients about incorporating family in addressing their lung cancer experiences and cancer risks. METHODS: This project aims to identify concerns and preferences for addressing family history documentation, risk assessment, prevention, and follow-up issues for LC patients and their family...
March 21, 2018: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
Lynne A Fieber, Nicholas S Kron, Justin B Greer, Hailey Rooney, Rachel A Prostko, John D Stieglitz, Martin Grosell, Phillip R Gillette
Aplysia californica was hatchery-reared in two turbulence protocols intended to imitate the intermittent turbulence of the native habitat and to promote development of the foot muscle from the exercise of adhering to the substrate. Hatchery-reared animals in turbulence regimes were compared to siblings reared in quiet water, and to wild animals, using noninvasive assessments of the development of the foot muscle. The objective was to learn if the turbulence-reared phenotype mimicked laboratory-targeted aspects of the wild phenotype, that is, reflex behavior, swim tunnel performance, and resting oxygen consumption (MO2 )...
March 17, 2018: Comparative Biochemistry and Physiology. Part A, Molecular & Integrative Physiology
Belén Irarrázaval, Salesa Barja, Edson Bustos, Romel Doirsaint, Gloria Senethmm, María Paz Guzmán, Ricardo Uauy
Infant malnutrition remains an important cause of death and disability, and Haiti has the highest prevalence in the Americas. Therefore, preventive strategies are needed. Our aims were (1) To assess the prevalence of malnutrition among young children seen at a health center in Haiti; (2) Examine adherence to infant feeding practices recommended by the World Health Organization (WHO) and the association to nutritional status. This cross-sectional study recruited children from the Saint Espri Health Center in Port Au Prince in 2014...
March 20, 2018: Nutrients
Nick X Bommer, Serena E Brownlie, Linda R Morrison, Marge L Chandler, James W Simpson
Three juvenile male Irish wolfhound littermates presented with marked polyuria and polydipsia. The four female siblings were apparently unaffected. Diagnostic testing revealed glucosuria with normoglycemia, generalized aminoaciduria, hypokalemia and metabolic acidosis consistent with Fanconi syndrome. Renal ultrasonographic and histologic findings are presented. Cases were managed with a supplementation regimen based on a treatment protocol for Fanconi syndrome in basenjis. These dogs did not have angular limb deformities as documented previously in juvenile canine siblings with Fanconi syndrome...
March 20, 2018: Journal of the American Animal Hospital Association
Seema Jayachandran, Rohini Pandi
Child stunting in India exceeds that in poorer regions like sub-Saharan Africa. Data on over 168,000 children show that, relative to Africa, India's height disadvantage increases sharply with birth order. We posit that India’s steep birth order gradient is due to favoritism toward eldest sons, which affects parents' fertility decisions and resource allocation across children. We show that, within India, the gradient is steeper for high-son-preference regions and religions. The gradient also varies with sibling gender as predicted...
September 2017: American Economic Review
Jennifer A Heissel
No abstract text is available yet for this article.
May 2017: American Economic Review
Candice Bjornson, Parco Chan, Abby Li, Bosco Paes, Krista L Lanctôt, Ian Mitchell
Respiratory syncytial virus (RSV) infection in cystic fibrosis (CF) infants is associated with significant morbidities. This study's objective is to evaluate the effectiveness and adverse events related to palivizumab (PVZ) in CF infants. Data on respiratory-related illness (RIH) and RSV hospitalizations (RSVH) were collected retrospectively in CF infants aged < 2 years in Alberta, Canada, from 2000 to 2017. Logistic regression models were used to compare the odds of RSVH or RIH in PVZ infants from the Canadian registry of palivizumab (CARESS) versus untreated (UPVZ) infants from Alberta, after adjusting for potential confounders...
March 19, 2018: European Journal of Clinical Microbiology & Infectious Diseases
Frederic Baron, Myriam Labopin, Annalisa Ruggeri, Jan J Cornelissen, Ellen Meijer, Henrik Sengeloev, Dietger Niederwieser, Marco R de Groot, Harry C Schouten, Noel-Jean Milpied, Didier Blaise, Bipin Savani, Eliane Gluckman, Mohamad Mohty, Arnon Nagler
PURPOSE: We assessed the impact of donor type in acute myeloid leukemia (AML) patients transplanted with 2 Gy total body irradiation (TBI)-based nonmyeloablative conditioning regimen. Experimental Design: Data from 1715 adult patients, with AML in CR1 or CR2 were included in this retrospective survey. RESULTS: Donors consisted either of HLA-matched sibling donors (MSD, n=701), 10/10 HLA-matched unrelated donors (MUD, n=611), HLA-haplo-identical donors (haplo, n=112) or single or double umbilical cord bloods (CBT, n=291)...
March 19, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Kiem Vu, George R Thompson, Chandler C Roe, Jane E Sykes, Elizabeth M Dreibe, Shawn R Lockhart, Wieland Meyer, David M Engelthaler, Angie Gelli
Cryptococcosis is an opportunistic fungal infection caused by members of the two sibling species complexes: Cryptococcus neoformans and Cryptococcus gattii. Flucytosine (5FC) is one of the most widely used antifungals against Cryptococcus spp., yet very few studies have looked at the molecular mechanisms responsible for 5FC resistance in this pathogen. In this study, we examined 11 C. gattii clinical isolates of the major molecular type VGIII based on differential 5FC susceptibility and asked whether there were genomic changes in the key genes involved in flucytosine metabolism...
March 15, 2018: Medical Mycology: Official Publication of the International Society for Human and Animal Mycology
Jude Ball, Dalice Sim, Richard Edwards
Introduction: Smoking among New Zealand (NZ) adolescents has declined since 2000, but ethnic disparities remain pronounced. To inform prevention efforts, we investigated exposure to and relative importance of known predictors of adolescent smoking and how these have changed over time, for Māori (NZ's indigenous population) and adolescents overall. Methods: We used repeat cross-sectional data, 2003 to 2015, from a national survey of 14- to 15-year-olds (N=20,443 to 31,696 per year)...
March 15, 2018: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
Floriana Fruscione, Pierluigi Valente, Bruno Sterlini, Alessandra Romei, Simona Baldassari, Manuela Fadda, Cosimo Prestigio, Giorgia Giansante, Jacopo Sartorelli, Pia Rossi, Alicia Rubio, Antonio Gambardella, Thierry Nieus, Vania Broccoli, Anna Fassio, Pietro Baldelli, Anna Corradi, Federico Zara, Fabio Benfenati
Proline-rich transmembrane protein 2 (PRRT2) is the causative gene for a heterogeneous group of familial paroxysmal neurological disorders that include seizures with onset in the first year of life (benign familial infantile seizures), paroxysmal kinesigenic dyskinesia or a combination of both. Most of the PRRT2 mutations are loss-of-function leading to haploinsufficiency and 80% of the patients carry the same frameshift mutation (c.649dupC; p.Arg217Profs*8), which leads to a premature stop codon. To model the disease and dissect the physiological role of PRRT2, we studied the phenotype of neurons differentiated from induced pluripotent stem cells from previously described heterozygous and homozygous siblings carrying the c...
March 15, 2018: Brain: a Journal of Neurology
Filiz Mine Çizmecioğlu, Jeremy Huw Jones, Wendy Forsyth Paterson, Sakina Kherra, Mariam Kourime, Ruth McGowan, M Guftar Shaikh, Malcolm Donaldson
OBJECTIVE: Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition. METHODS: Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire. RESULTS: Ninety patients (54 male: 36 female) were seen between 1991-2015, most with paternal deletion (n=56) or maternal isodisomy (n=26). Features included cryptorchidism in 94% males, preterm birth (26%), birthweight <2500g (24%), polyhydramnios (23%), breech presentation (23%) and need for nasogastric feeding (83%)...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
Theodore S Tomeny, James A Rankin, Lorien K Baker, Sophia W Eldred, Tammy D Barry
Social support can buffer against stressors often associated with having family members with autism spectrum disorder. This study included 112 parents and typically developing siblings of children with autism spectrum disorder. Relations between self-reported typically developing sibling emotional and behavioral problems and discrepancy between social support frequency and importance were examined via polynomial regression with response surface analysis. Typically developing siblings who described social support as frequent and important reported relatively few problems...
March 1, 2018: Autism: the International Journal of Research and Practice
Ju-Hyun Song, Brenda Volling
This study investigated relations among children's Theory-of-Mind (ToM) development, early sibling interactions, and parental discipline strategies during the transition to siblinghood. Using a sample of firstborn children and their parents (N = 208), we assessed children's ToM before the birth of a sibling and 12 months after the birth, and sibling interactions (i.e., positive engagement and antagonism) and parental discipline strategies (i.e., child-centred and parent-centred discipline) at 4 and 8 months in the first year of siblinghood...
January 2018: Infant and Child Development
Kristin J Perry, Joseph Price
Predictors of the physical and relational aggressive behavior of children in foster care were examined ( N = 160, 50.9% male, M age = 7.57, SD = 2.39). First, predictors representative of children's placement histories were examined in relation to the children's aggression at T1. Next, predictors representing characteristics of the current family environment were examined in relation to the children's aggression at T2 (four months later). Results revealed that a greater number of prior group home placements and being in a non-kinship home were associated with higher physical aggression at T1...
April 2017: Journal of Child and Family Studies
Kristin J Perry, Joseph M Price
This study contributes to current research on the behavior problems of children in foster care by analyzing a more comprehensive set of concurrent child history and contextual predictors. Kinship home status and sibling status (i.e., whether the sibling was a biological sibling to the foster child) were evaluated as moderators of significant associations. Data were collected at the baseline of a foster parent training intervention program prior to any intervention services using parent phone interviews ( N = 310, 51...
January 2018: Children and Youth Services Review
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