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Lijun Bai, Desheng Zhao, Qiang Cheng, Yanwu Zhang, Shusi Wang, Heng Zhang, Mingyu Xie, Ruixin He, Hong Su
PURPOSE: We conducted the meta-analysis to respectively evaluate the risk of prenatal antibiotics use during specific trimesters (first, second, and third trimester) on childhood asthma or wheeze and to explore whether the association was biased by potential confounding. METHODS: The quality of included articles was assessed according to Newcastle-Ottawa Quality Assessment Scale and the Strengthening the Reporting of Observational Studies in Epidemiology. A random effects model was used to calculate pooled risk ratios and corresponding 95% confidence interval (CI), and publication bias was tested by Egger statistical test...
November 2, 2018: Annals of Epidemiology
Tamar Margalit, Avi Ben-Haroush, Roni Garor, Naomi Kotler, Dania Shefer, Natalia Krasilnikov, Moran Tzabari, Galia Oron, Yoel Shufaro, Onit Sapir
RESEARCH QUESTION: Does delayed maturation of aspirated metaphase I (MI) oocytes, completed in vitro, adversely affect early embryo development? DESIGN: Time-lapse microscopy was used to compare morphokinetic variables between embryos derived from oocytes with delayed maturation after ovarian stimulation and from in-vivo-matured metaphase II (MII) sibling oocytes from the same IVF and intracytoplasmic sperm injection cycle. RESULTS: A total of 1545 injected oocytes in 169 cycles from 149 patients were included...
November 10, 2018: Reproductive Biomedicine Online
Mehran Kausar, Saima Siddiqi, Muhammad Yaqoob, Sajid Mansoor, Outi Makitie, Asif Mir, Chiea Chuen Khor, Jia Nee Foo, Mariam Anees
INTRODUCTION: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disease with skeletal fragility and variable extra-skeletal manifestations. To date several point mutations in 18 different genes causing different types of OI have been identified. Mutations in WNT1 compromise activity of the osteoblasts leading to disturbed bone mass accrual, fragility fractures and progressive skeletal abnormalities. The present study was conducted to determine the underlying genetic cause of an autosomal recessive skeletal dysplasia in a large consanguineous family from Chinute, Pakistan...
November 17, 2018: Journal of Biomedical Science
Akemi Tanaka, Kanji Okumoto, Shigehiko Tamura, Yuichi Abe, Yoel Hirsch, Liyong Deng, Joseph Ekstein, Wendy K Chung, Yukio Fujiki
Using clinical exome sequencing (ES), we identified an autosomal recessive missense variant, c.153C>A (p.F51L), in the peroxisome biogenesis factor 26 gene ( PEX26 ) in a 19-year old female who was referred for moderate to severe hearing loss. The proband and three affected siblings are all homozygous for the c.153C>A variant. Skin fibroblasts from this patient show normal morphology in immunostaining of matrix proteins, although the level of catalase was elevated. Import rate of matrix proteins was significantly decreased in the patient-derived fibroblasts...
November 16, 2018: Cold Spring Harbor Molecular Case Studies
Susana M Wadgymar, Rachel M Mactavish, Jill T Anderson
Parental environmental effects-or transgenerational plasticity-can influence an individual's phenotype or fitness yet remain underexplored in the context of global change. Using the perennial self-pollinating plant Boechera stricta, we explored the effects of climate change on transgenerational and within-generation plasticity in dormancy, germination, growth, and survival. We first conducted a snow removal experiment in the field, in which we transplanted 16 families of known origin into three common gardens at different elevations and exposed half of the siblings to contemporary snow dynamics and half to early snow removal...
December 2018: American Naturalist
Jennifer Lee, Hannah L Scanga, Kunal K Dansingani, Kenneth J Taubenslag, Leonid Zlotcavitch, Bharesh K Chauhan, Christin L Sylvester, D Holmes Morton, Ken K Nischal
BACKGROUND: Posterior column ataxia retinitis pigmentosa (PCARP) with feline leukemia virus subgroup C cellular receptor 1 (FLVCR1) gene mutation is a rare disorder with significant ophthalmic features. MATERIALS AND METHODS: We conducted a retrospective case series study of patients diagnosed with PCARP and genetic testing positive for FLVCR1 mutation between 1 January 2015 and 1 October 2017 at the Children's Hospital of Pittsburgh. Clinical charts, visual fields, fundus autofluorescence, and spectral-domain optical coherence tomography (SD-OCT) were reviewed...
November 16, 2018: Ophthalmic Genetics
Victoria Williamson, Sharon A M Stevelink, Eve Da Silva, Nicola T Fear
Background: Children in military families have uniquely different childhood experiences compared to their civilian peers, including a parent in employment and a stable familial income, frequent relocations, indirect exposure to and awareness of conflict, and extended separation from parents or siblings due to deployment. However, whether children from military families have poorer wellbeing than non-military connected children is not well understood. Method: We conducted a systematic review to explore the relationship between military family membership (e...
2018: Child and Adolescent Psychiatry and Mental Health
Ebun Omoyinmi, Iman Mohamoud, Kimberly Gilmour, Paul A Brogan, Despina Eleftheriou
It is now increasingly recognized that some monogenic autoinflammatory diseases and immunodeficiencies cause vasculitis, although genetic causes of vasculitis are extremely rare. We describe a child of non-consanguineous parents who presented with cutaneous vasculitis, digital ischaemia and hypocomplementaemia. A heterozygous p.R1042G gain-of-function mutation (GOF) in the complement component C3 gene was identified as the cause, resulting in secondary C3 consumption and complete absence of alternative complement pathway activity, decreased classical complement activity, and low levels of serum C3 with normal C4 levels...
2018: Frontiers in Immunology
Jacinthe Bonneau, Julie Berbis, Gerard Michel, Camille Vercasson, Yves Bertrand, Sophie Ansoborlo, Jean-Hugues Dalle, Andre Baruchel, Marie Dominique Tabone, Catherine Paillard, Audrey Contet, Maryline Poirée, Nicolas Sirvent, Sandrine Thouvenin, Justyna Kanold, Claire Freycon, Paul Saultier, Pascal Auquier, Virginie Gandemer
OBJECTIVE: To evaluate the association between medical and social environmental factors and the risk of repeating a grade in childhood leukemia survivors. STUDY DESIGN: A cross-sectional study of childhood leukemia survivors, recruited through the LEA cohort (Leucémie de l'Enfant et de l'Adolescent [French Childhood Cancer Survivor Study for Leukemia]) in 2014. An adjusted logistic regression model was used to identify variables linked to repeating a grade after the diagnosis among the survivors, and the rates of repeating a grade were compared between the survivors and their siblings using a multilevel logistic regression model...
November 13, 2018: Journal of Pediatrics
Francesca Waddington, Catharina Hartman, Yvette de Bruijn, Martijn Lappenschaar, Anoek Oerlemans, Jan Buitelaar, Barbara Franke, Nanda Rommelse
BACKGROUND: Emotion recognition dysfunction has been reported in both autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). This suggests that emotion recognition is a cross-disorder trait that may be utilised to understand the heterogeneous psychopathology of ASD and ADHD. We aimed to identify emotion recognition subtypes and to examine their relation with quantitative and diagnostic measures of ASD and ADHD to gain further insight into disorder comorbidity and heterogeneity...
November 15, 2018: Journal of Neurodevelopmental Disorders
Hasini Yatawatte, Christian Poellabauer, Sandra Schneider, Susan Latham
Verbal speech of children diagnosed with ASD is explored in order to identify patterns autism has left in speech, and to model such patterns for implementing automatic diagnostic and screening frameworks. In this study, we identify the deviations of acoustic low-level descriptors (LLDs) in voice of an autistic adolescent from her typically developing triplet siblings. The goal is to identify the atypicality in voice introduced by autism under minimum gender, age, genetic, and language bias and use the gained insights to build a more generalized model by adding more subjects hierarchically...
July 2018: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
Matthew S Krantz, Cosby A Stone, James A Connelly, Allison E Norton, Yasmin W Khan
No abstract text is available yet for this article.
November 12, 2018: Annals of Allergy, Asthma & Immunology
Chatchai Tananchai, Manatsawee Pattanakul, Jirod Nararak, Véronique Sinou, Sylvie Manguin, Theeraphap Chareonviriyaphap
Malaria is highly endemic in Umphang Valley, a district in the western edge of Tak Province, along the boundary with Kayin State of Myanmar. Although there are high indigenous malaria cases in this area every year, nothing about malaria vectors and their transmission role have been investigated before this study. The objective of this work is to characterize the Anopheles species diversity and trophic behavior of malaria vectors in the transmission area of Umphang Valley. Females of Anopheles mosquitoes were collected every two months during a two-year period...
November 12, 2018: Acta Tropica
Tobias Hecker, Stephanie Huber, Thomas Maier, Andreas Maercker
Forced migration is one of the major challenges currently facing the international community. Many refugees have been affected by traumatic experiences at home and during their flight, putting them at a heightened risk of developing trauma-related disorders. The new version of the International Classification of Diseases (ICD-11) introduced two sibling disorders, posttraumatic stress disorder (PTSD) and complex PTSD (CPTSD). So far, little is known about risk and protective factors in refugees that are specifically associated with the disturbances in self-organization (DSO) characteristic of CPTSD...
November 15, 2018: Journal of Traumatic Stress
Dongsub Kim, Soo-Han Choi, Dong Youn Lee, Juyoun Kim, Eunjoo Cho, Keon Hee Yoo, Hong Hoe Koo, Yae-Jean Kim
Scabies is a highly contagious skin infestation caused by the mite, Sarcoptes scabiei var hominis. Complex response in innate, humoral, and cellular immune system to scabies mite cause skin inflammation and pruritus. Diagnosis can be challenging because the condition resembles other common skin conditions. We report the first Korean case of scabies in a hematopoietic cell transplant recipient, initially suspected for skin graft versus host disease (GVHD). A T-cell acute lymphocytic leukemia patient underwent a sibling matched allogeneic HCT and developed pruritus after cell engraftment...
November 9, 2018: Korean Journal of Pediatrics
Lucy Magoolagan, Peter J Mawby, Flora A Whitehead, Stuart P Sharp
Song complexity and singing frequency in male birds are shaped by female choice; they signal male quality because song is costly to develop and produce. The timing of song learning and the development of the brain structures involved occur during a period when chicks are exposed to a number of potential stressors. The quality and quantity of song produced by adults may therefore reflect the level of stress experienced during early life, a theory known as the 'developmental stress hypothesis'. We tested this hypothesis using song recordings and life-history data from an individually marked, long-term study population of wild dippers (Cinclus cinclus)...
2018: PloS One
John M McPartland
New concepts are reviewed in Cannabis systematics, including phylogenetics and nomenclature. The family Cannabaceae now includes Cannabis , Humulus , and eight genera formerly in the Celtidaceae . Grouping Cannabis , Humulus , and Celtis actually goes back 250 years. Print fossil of the extinct genus Dorofeevia (= Humularia ) reveals that Cannabis lost a sibling perhaps 20 million years ago (mya). Cannabis print fossils are rare ( n =3 worldwide), making it difficult to determine when and where she evolved...
2018: Cannabis and Cannabinoid Research
Beate Hagl, Benedikt D Spielberger, Silvia Thoene, Sophie Bonnal, Christian Mertes, Christof Winter, Isaac J Nijman, Shira Verduin, Andreas C Eberherr, Anne Puel, Detlev Schindler, Jürgen Ruland, Thomas Meitinger, Julien Gagneur, Jordan S Orange, Marielle E van Gijn, Ellen D Renner
In hyper-IgE syndromes (HIES), a group of primary immunodeficiencies clinically overlapping with atopic dermatitis, early diagnosis is crucial to initiate appropriate therapy and prevent irreversible complications. Identification of underlying gene defects such as in DOCK8 and STAT3 and corresponding molecular testing has improved diagnosis. Yet, in a child and her newborn sibling with HIES phenotype molecular diagnosis was misleading. Extensive analyses driven by the clinical phenotype identified an intronic homozygous DOCK8 variant c...
November 13, 2018: Scientific Reports
Arnaud Molin, Marie Nowoczyn, Nadia Coudray, Céline Ballandone, Geneviève Abéguilé, Hervé Mittre, Nicolas Richard, Philippe Eckart, Mireille Castanet, Marie-Laure Kottler
Loss-of-function mutations in CYP24A1 (MIM 126065 20q13.2), the gene encoding the 24-hydroxylase responsible for 25-OH-D and 1,25-(OH)2 D degradation, are identified in about 20% of patients presenting Idiopathic Infantile Hypercalcemia (IIH) (MIM 143880). Common features of this autosomal recessive condition included hypercalcemia with hypercalciuria, suppressed PTH and a high 25-OH-D3 :24,25-(OH)2 D3 ratio. Medical care mainly relies on sun protection and life-long contraindication of vitamin D to avoid complications such as early nephrocalcinosis and renal failure...
November 10, 2018: European Journal of Medical Genetics
Chen-Hua Yan, Yu Wang, Xiao-Dong Mo, Yu-Qian Sun, Feng-Rong Wang, Hai-Xia Fu, Yao Chen, Ting-Ting Han, Jun Kong, Yi-Fei Cheng, Xiao-Hui Zhang, Lan-Ping Xu, Kai-Yan Liu, Xiao-Jun Huang
Background: Bloodstream infection (BSI) is a common and serious complication after hematopoietic stem cell transplantation (HSCT). An investigation of the characteristics of pre-engraftment BSI after haploidentical HSCT compared with human leukocyte antigen (HLA)-identical sibling HSCT has not been conducted. Methods: A single-center cohort representing 1847 consecutive patients undergoing haploidentical or HLA-identical sibling HSCT from 2013 to 2016 was selected...
November 13, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
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