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https://www.readbyqxmd.com/read/28320181/ataxic-form-of-autosomal-recessive-pex10-related-peroxisome-biogenesis-disorders-with-a-novel-compound-heterozygous-gene-mutation-and-characteristic-clinical-phenotype
#1
Toru Yamashita, Jun Mitsui, Nobuyuki Shimozawa, Shigeo Takashima, Hiroshi Umemura, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Takashi Matsukawa, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Koji Abe
Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of peroxisome biogenesis disorders, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an ataxic form (mild). Here, we report 3 siblings of the ataxic form with cerebellar ataxia, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement. All 3 siblings are compound heterozygous for a previously reported mutation, c...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319072/long-term-follow-up-of-a-retrospective-comparison-of-reduced-intensity-conditioning-and-conventional-high-dose-conditioning-for-allogeneic-transplantation-from-matched-related-donors-in-myelodysplastic-syndromes
#2
R Martino, A Henseler, M van Lint, N Schaap, J Finke, D Beelen, S Vigouroux, E P Alessandrino, G J Mufti, J H Veelken, B Bruno, I Yakoub-Agha, L Volin, J Maertens, R Or, V Leblond, M Rovira, P Kalhs, A F Alvarez, A Vitek, J Sierra, E Wagner, M Robin, T de Witte, N Kröger
This study shows the long-term updated outcomes of a multicenter retrospective study which analyzed 843 patients with myelodysplastic syndrome (MDS) who underwent transplantation with an HLA-identical sibling donor with either reduced-intensity conditioning (RIC) in 213 patients, or standard myeloablative conditioning (MAC) in 630 patients. In multivariate analysis, the 13-year relapse rate was significantly increased after RIC (31% after MAC vs 48% in RIC; HR, 1.5; 95% CI, 1.1-1.9; P=0.04), but with no differences in overall survival (OS) (30% after MAC vs 27% in RIC; P=0...
March 20, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28318411/predicting-a-dissociative-disorder-from-type-of-childhood-maltreatment-and-abuser-abused-relational-tie
#3
Christa Krüger, Lizelle Fletcher
We investigate the types of childhood maltreatment and abuser-abused relational ties that best predict a dissociative disorder (DD). Psychiatric inpatients (n = 116; mean age = 35; F:M = 1.28:1) completed measures of dissociation and trauma. Abuse type and abuser-abused relational ties were recorded in the Traumatic Experiences Questionnaire. Multidisciplinary team clinical diagnosis or administration of the SCID-D-R to high dissociators confirmed DD diagnoses. Logit models described the relationships between abuser-abused relational tie and the diagnostic grouping of patients, DD present (n = 16) or DD absent (n = 100)...
February 23, 2017: Journal of Trauma & Dissociation
https://www.readbyqxmd.com/read/28318288/familial-risk-and-sibling-mentalization-links-with-preschoolers-internalizing-problems
#4
Michelle Rodrigues, Noam Binnoon-Erez, Heather Prime, Michal Perlman, Jennifer M Jenkins
The current study explored whether older sibling mentalization moderated the relationship between familial risk for internalizing symptoms and the development of future internalizing problems in the younger siblings, referred to as target children. Data were collected on 397 older siblings at Time 1 (T1) when target children were newborn and their older siblings were on average 2.61 years old (SD = .75). Target children were on average 1.60 years old at Time 2 (T2). Internalizing problems were assessed via mother and partner reports...
March 20, 2017: Journal of Family Psychology: JFP
https://www.readbyqxmd.com/read/28318252/molecular-dynamics-in-mixed-solvents-reveals-protein-ligand-interactions-improves-docking-and-allows-accurate-binding-free-energy-predictions
#5
Juan Pablo Arcon, Lucas A Alfredo Defelipe, Carlos Pablo Modenutti, Elias Daniel Lopez, Daniel Alvarez-Garcia, Xavier Barril, Adrian Gustavo Turjanski, Marcelo A Marti
One of the most important biological processes at the molecular level is the formation of protein-ligand complexes. Therefore, determining their structure and underlying key interactions is of paramount relevance and has direct applications in drug development. Due to its low cost relative to its experimental sibling, Molecular Dynamics (MD) simulations in the presence of different solvent probes mimicking specific type of interactions have been increasingly used to analyze protein binding sites and reveal protein-ligand interaction hot spots...
March 20, 2017: Journal of Chemical Information and Modeling
https://www.readbyqxmd.com/read/28318175/psychosocial-care-in-the-department-of-pediatric-hematology-and-oncology-of-public-hospitals-in-argentina
#6
Débora Farberman, Teresa Méndez, Leticia García, Lucía Salvia, Silvia Otarolac
BACKGROUND: Blood diseases and cancer are part of a group of rare conditions in pediatrics. In general, cancer treatments are prolonged (months or years), so psychosocial support has been introduced to provide comprehensive care to these patients. OBJECTIVE: To explore psychosocial care provided at the public hospitals of Argentina to children and adolescents with cancer. Population and Methods. An electronic questionnaire was sent to the heads of the Departments of Hematology and Oncology, Mental Health, and Social Services of 27 public hospitals providing care to pediatric patients with cancer...
April 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28317801/utility-of-quantiferon-tuberculosis-gold-in-tube-test-for-detecting-latent-tuberculosis-infection-among-close-household-contacts-of-confirmed-tuberculosis-patients-in-accra-ghana
#7
Gloria Ivy Mensah, Sandra Akoley Sowah, Nana Yaw Asare Yeboah, Kennedy Kwasi Addo, Dolly Jackson-Sillah
OBJECTIVE/BACKGROUND: Introduction of the interferon gamma (IFN-γ) release assays with their higher sensitivity and specificity over the traditional tuberculin skin test has improved testing for latent tuberculosis infection (LTBI). None of the IFN-γ release assays has ever been used to screen for LTBI in Ghana. This study set out to determine the utility of the QuantiFERON TB Gold-in-Tube (QFT-GIT) test for the diagnosis of LTBI among close household contacts of newly diagnosed sputum smear-positive tuberculosis (TB) patents in Accra, Ghana, and the associated risk factors for a positive QFT-GIT test...
January 2017: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28317498/school-achievement-iq-and-risk-of-alcohol-use-disorder-a-prospective-co-relative-analysis-in-a-swedish-national-cohort
#8
Kenneth S Kendler, Henrik Ohlsson, Jan Sundquist, Kristina Sundquist
OBJECTIVE: Most studies suggest that poor cognitive functioning in adolescence increases risk of alcohol use disorders (AUDs). We seek to clarify the causes of this association. METHOD: In Swedish individuals born from 1972 to 1990 in whom cognitive functioning was assessed by school achievement at age 16 years (males and females, N = 1,796,048) and by IQ at ages 18-20 (males, N = 554,644), we examined the hazard ratio (HR) for AUD ascertained from public registries...
March 2017: Journal of Studies on Alcohol and Drugs
https://www.readbyqxmd.com/read/28316933/letter-to-the-editors-concerning-divergent-clinical-outcomes-of-alphaglucosidase-enzyme-replacement-therapy-in-two-siblings-with-infantile-onset-pompe-disease-treated-in-the-symptomatic-or-pre-symptomatic-state-by-takashi-m-et-al
#9
Rita Ortolano, Federico Baronio, Riccardo Masetti, Arcangelo Prete, Alessandra Cassio, Andrea Pession
No abstract text is available yet for this article.
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28314946/late-onset-islet-autoimmunity-in-childhood-the-diabetes-autoimmunity-study-in-the-young-daisy
#10
Brigitte I Frohnert, Lisa Ide, Fran Dong, Anna E Barón, Andrea K Steck, Jill M Norris, Marian J Rewers
AIMS/HYPOTHESIS: We sought to assess the frequency, determinants and prognosis for future diabetes in individuals with islet autoimmunity and whether these factors differ depending on the age of onset of islet autoimmunity. METHODS: A prospective cohort (n = 2547) of children from the general population who had a high-risk HLA genotype and children who had a first-degree relative with type 1 diabetes were followed for up to 21 years. Those with the persistent presence of one or more islet autoantibodies were categorised as early-onset (<8 years of age, n = 143, median 3...
March 17, 2017: Diabetologia
https://www.readbyqxmd.com/read/28306719/chromosome-19q13-disruption-alters-expressions-of-cyp2a7-mia-and-mia-rab4b-lncrna-and-contributes-to-fap-like-phenotype-in-apc-mutation-negative-familial-colorectal-cancer-patients
#11
Lai Fun Thean, Yu Hui Wong, Michelle Lo, Carol Loi, Min Hoe Chew, Choong Leong Tang, Peh Yean Cheah
Familial adenomatous polyposis (FAP) is an autosomal-dominantly inherited form of colorectal cancer (CRC) caused by mutation in the adenomatous polyposis coli (APC) gene. Our ability to exhaustively screen for APC mutations identify microsatellite-stable and APC-mutation negative familial CRC patients, enabling us to search for novel genes. We performed genome-wide scan on two affected siblings of one family and 88 ethnicity- and gender-matched healthy controls to identify deletions shared by the siblings. Combined loss of heterozygosity, copy number and allelic-specific copy number analysis uncovered 5 shared deletions...
2017: PloS One
https://www.readbyqxmd.com/read/28304131/copy-number-variation-in-19-italian-multiplex-families-with-autism-spectrum-disorder-importance-of-synaptic-and-neurite-elongation-genes
#12
Carla Lintas, Chiara Picinelli, Ignazio Stefano Piras, Roberto Sacco, Claudia Brogna, Antonio M Persico
Autism Spectrum Disorder (ASD) is endowed with impressive heritability estimates and high recurrence rates. Its genetic underpinnings are nonetheless very heterogeneous, with common, and rare contributing variants located in hundreds of different loci, each characterized by variable levels of penetrance. Multiplex families from single ethnic groups represent a useful means to reduce heterogeneity and enhance genetic load. We screened 19 Italian ASD multiplex families (3 triplets and 16 duplets, total N = 41 ASD subjects), using array-CGH (Agilent 180 K)...
March 17, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28303776/familial-and-special-twin-influences-on-cigarette-use-initiation
#13
Cristina B Bares, Hermine H Maes, Kenneth S Kendler
BACKGROUND: Shared experiences within families play an important role in the initiation of cigarette use among adolescents. Behavioral genetic studies using various samples have implicated that the shared environment that twins experience is an important source of influence on whether adolescents initiate cigarette use. Whether the special twin environment, in addition to the shared environment, contributes significantly to making twin siblings more similar in cigarette initiation, and whether the influence of the special twin environment persists into adulthood, is less clear...
April 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28303321/serial-prenatal-and-postnatal-mri-of-dystroglycanopathy-in-a-patient-with-familial-b3galnt2-mutation
#14
Mai-Lan Ho, Orit A Glenn, Eliott H Sherr, Jonathan B Strober
The dystroglycanopathies are a heterogeneous group of conditions, with mutations in B3GALNT2 described in association with congenital muscular dystrophy. The serial prenatal MRI findings in this disorder have not been well described. We present sequential prenatal and postnatal MRI findings in a boy with compound heterozygous mutations in B3GALNT2, as well as the MRI findings of his two siblings with similar mutations. These findings provide new insight into the molecular pathogenesis and neurodevelopment of congenital muscular dystrophy...
March 16, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28303192/adaptation-of-acaricide-stress-facilitates-tetranychus-urticae-expanding-against-tetranychus-cinnabarinus-in-china
#15
Wencai Lu, Mengyao Wang, Zhifeng Xu, Guangmao Shen, Peng Wei, Ming Li, William Reid, Lin He
The two-spotted spider mite, Tetranychus urticae, and the carmine spider mite, Tetranychus cinnabarinus, are invasive and native species in China, respectively. Compared with T. cinnabarinus, T. urticae has expanded into most parts of China and has become the dominant species of spider mite since 1983, when it was first reported in China. However, the mechanism of the demographic conversion has not been illuminated. In this study, one T. urticae field population and one T. cinnabarinus field population were isolated from the same plant in the same field, and the toxicological characteristics were compared between these two species...
February 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28302713/family-cord-blood-banking-for-sickle-cell-disease-a-twenty-year-experience-in-two-dedicated-public-cord-blood-banks
#16
Hanadi Rafii, Françoise Bernaudin, Helene Rouard, Valérie Vanneaux, Annalisa Ruggeri, Marina Cavazzana, Valerie Gauthereau, Aurélie Stanislas, Malika Benkerrou, Mariane De Montalembert, Christele Ferry, Robert Girot, Cecile Arnaud, Annie Kamdem, Joelle Gour, Claudine Touboul, Audrey Cras, Mathieu Kuentz, Claire Rieux, Fernanda Volt, Barbara Cappelli, Karina T Maio, Annalisa Paviglianiti, Chantal Kenzey, Jerome Larghero, Eliane Gluckman
Efforts to implement family cord blood banking have been developed in the past decades for siblings requiring stem cell transplantation for conditions such as sickle cell disease. However, public banks are faced with challenging decisions about the units to be stored, discarded, or used for other endeavors. We report here 20 years of experience in family cord blood banking for sickle cell disease in two dedicated public banks. Participants were pregnant women who had previous child diagnosed with homozygous sickle cell disease...
March 16, 2017: Haematologica
https://www.readbyqxmd.com/read/28302712/improved-survival-after-acute-graft-vs-host-disease-diagnosis-in-the-modern-era
#17
Hanna J Khoury, Tao Wang, Michael T Hemmer, Daniel Couriel, Amin Alousi, Corey Cutler, Mahmoud Aljurf, Joseph H Antin, Mouhab Ayas, Minoo Battiwalla, Jean-Yves Cahn, Mitchell Cairo, Yi-Bin Chen, Robert Peter Gale, Shahrukh Hashmi, Robert J Hayashi, Madan Jagasia, Mark Juckett, Rammurti T Kamble, Mohamed Kharfan-Dabaja, Mark Litzow, Navneet Majhail, Alan Miller, Taiga Nishihori, Muna Qayed, Helene Schoemans, Harry C Schouten, Gérard Socié, Jan Storek, Leo Verdonck, Ravi Vij, William A Wood, Lolie Yu, Rodrigo Martino, Matthew Carabasi, Christopher Dandoy, Usama Gergis, Peiman Hematti, Melham Solh, Kareem Jamani, Leslie Lehmann, Bipin Savani, Kirk R Schultz, Baldeep M Wirk, Stephen Spellman, Mukta Arora, Joseph Pidala
Acute graft vs. host disease remains a major threat to successful outcome after allogeneic hematopoietic cell transplantation. While improvements in treatment and supportive care have occurred, it is unknown whether these advances have resulted in improved outcome specifically among those diagnosed with acute graft vs. host disease. We examined outcome following diagnosis of grade II-IV acute graft vs. host disease according to time period, and examine effects according to original graft vs. host disease prophylaxis regimen and maximum overall grade of acute GVHD...
March 16, 2017: Haematologica
https://www.readbyqxmd.com/read/28302695/hla-identical-sibling-hsct-for-scd
#18
(no author information available yet)
No abstract text is available yet for this article.
March 16, 2017: Blood
https://www.readbyqxmd.com/read/28301413/ophthalmic-findings-in-late-stage-sjogren-larsson-syndrome
#19
Tavish Nanda, Jaclyn L Kovach
PURPOSE: To report spectral domain optical coherence tomography and fundus autofluorescence documentation of late stage macular findings associated with Sjogren-Larsson Syndrome in three adult siblings. METHODS: Three adult siblings with Sjogren-Larsson Syndrome underwent ophthalmic examination and imaging. RESULTS: Crystalline maculopathy and subretinal deposits, presumably lipofuscin accumulation, with macular atrophy were present in varying degrees in all three adult siblings...
March 15, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28301147/exposure-to-persistent-organic-pollutants-reduces-testosterone-concentrations-and-affects-sperm-viability-and-morphology-during-the-mating-peak-period-in-a-controlled-experiment-on-farmed-arctic-foxes-vulpes-lagopus
#20
Christian Sonne, Peter A Torjesen, Eva Fuglei, Derek C G Muir, Bjorn M Jenssen, Even Jørgensen, Rune Dietz, Øystein Ahlstrøm
We investigated testosterone production and semen parameters in farmed Arctic foxes by dietary exposure to persistent organic pollutants (POPs) for 22 months. Eight male foxes were given a diet of POP-contaminated minke whale blubber whereas their eight male siblings were fed a control diet containing pig fat as main fat source. The minke whale-based feed contained a ∑POPs concentration of 802 ng/g ww whereas the pig-based feed contained ∑POPs of 24 ng/g ww. At the end of the experiment, ∑POP concentrations in adipose tissue were 8856±2535 ng/g ww in the exposed foxes and 1264±539 ng/g ww in the control foxes...
March 16, 2017: Environmental Science & Technology
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