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birth defect

Zöe Powis, Kelly D Farwell Hagman, Virginia Speare, Taylor Cain, Kirsten Blanco, Layla S Mowlavi, Emily M Mayerhofer, David Tilstra, Timothy Vedder, Jesse M Hunter, Marilyn Tsang, Lina Gonzalez, Gerald Vockley, Sha Tang
PurposeNeonatal patients are particularly appropriate for utilization of diagnostic exome sequencing (DES), as many Mendelian diseases are known to present in this period of life but often with complex, heterogeneous features. We attempted to determine the diagnostic rates and features of neonatal patients undergoing DES.MethodsThe clinical histories and results of 66 neonatal patients undergoing DES were retrospectively reviewed.ResultsClinical DES identified potentially relevant findings in 25 patients (37...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
You Jung Shin, June Seek Choi, Jin Hoon Chung, Jung Yeol Han, Hyun Kyong Ahn, Hyun Mee Ryu
This study aimed to analyse perinatal outcomes in ofloxacin-exposed pregnancies. This prospective study was conducted on 143 singleton pregnancies between January 2001 and April 2014, after oral ofloxacin exposure in the first trimester. A total of 33 exposed mothers were compared with 110 age-matched controls who were not exposed to teratogen. The mean maternal age was 31.4 ± 3.6 years, and the median gestational age was 4.1 weeks at the exposure. No significant differences were observed in either gestational age or in the foetal ultrasonographic long bone length between the exposed and control groups...
March 22, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Ding Li, Jianbo Wang
The mammalian heart is the first organ to form and is critical for embryonic survival and development. With an occurrence of 1%, congenital heart defects (CHDs) are also the most common birth defects in humans, and major cause of childhood morbidity and mortality (Hoffman and Kaplan in J Am Coll Cardiol 39(12):1890-1900, 2002; Samanek in Cardiol Young 10(3):179-185, 2000). Understanding how the heart forms will not only help to determine the etiology and to design diagnostic and therapeutic approaches for CHDs, but may also provide insight into regenerative medicine to repair injured adult hearts...
March 22, 2018: Pediatric Cardiology
Ixora Kamisan Atan, Sylvia Lin, Hans Peter Dietz, Peter Herbison, Peter Donald Wilson
INTRODUCTION AND HYPOTHESIS: Levator ani muscle (LAM) and anal sphincter tears are common after vaginal birth and are associated with female pelvic organ prolapse and anal incontinence. The impact of subsequent births on LAM and external anal sphincter (EAS) integrity is less well defined. The objective of this study was to determine the prevalence of LAM and EAS trauma in primiparous (VP1) and multiparous (VP2+) women who had delivered vaginally to assess if there were differences between the two groups...
March 21, 2018: International Urogynecology Journal
Annelieke Hijkoop, Nina C J Peters, Rosan L Lechner, Yolande van Bever, Annabel P J M van Gils-Frijters, Dick Tibboel, René M H Wijnen, Titia E Cohen-Overbeek, Hanneke IJsselstijn
OBJECTIVES: To compare the prenatal frame of reference of omphalocele (ie, survival of fetuses) with that after birth (ie, survival of liveborn neonates), and to assess physical growth and neurodevelopment in children with minor or giant omphalocele up to 2 years of age. DESIGN: We included fetuses and neonates diagnosed in 2000-2012. Physical growth (SD scores, SDS) and mental and motor development at 12 and 24 months were analysed using general linear models, and outcomes were compared with reference norms...
March 21, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
Valentina Cardiello, Enrico Zecca, Mirta Corsello, Teresa Pianini, Francesca Serrao, Simonetta Costa, Francesco Cota
BACKGROUND: Hypernatremic dehydration is a complication of preterm infants with reportedly high morbility. In preterm infants, this happens due to a combination of low fluid intake, transepidermal water loss (TEWL), and immaturity of kidney function. Semipermeable membranes are self-adhesive membranes that can be applied as an artificial skin to reduce TEWL. AIMS: To test the hypothesis that early application of a semipermeable membrane (Tegaderm™) in preterm infants ≤30 weeks could result in a significant reduction of hypernatremia (serum Na > 145 mEq/l) during the first 15 days of life...
March 18, 2018: Early Human Development
Marta Concheiro, Marilyn A Huestis
Drug use during pregnancy constitutes a major preventable worldwide public health issue. Birth defects, growth retardation and neurodevelopmental disorders are associated with tobacco, alcohol or drugs of abuse exposure during pregnancy. Besides these adverse health effects, drug use during pregnancy also raises legal and social concerns. Identification and quantification of drug markers in maternal and newborn biological samples offers objective evidence of exposure and complements maternal questionnaires...
March 21, 2018: Bioanalysis
William Abouhassan, John Kuang Chao, Ananth S Murthy
BACKGROUND: Craniosynostosis is an uncommon complication after shunting procedures for congenital hydrocephalus. We report a case of a child with myelomeningocele and normocephaly at the time of birth. She underwent ventricular shunting for Chiari malformation and hydrocephalus at 3 days of age. An immediate postoperative CT scan confirmed all sutures were open. Serial CT scans document an open metopic suture at 2 months, closed metopic suture at 5 months, and trigonocephaly at 11 months with concomitant slit ventricle syndrome, and collapsed lateral and third ventricles...
March 20, 2018: Journal of Craniofacial Surgery
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
Robert Freedman, Sharon K Hunter, M Camille Hoffman
Genes, infection, malnutrition, and other factors affecting fetal brain development are a major component of risk for a child's emotional development and later mental illnesses, including schizophrenia, bipolar disorder, and autism. Prenatal interventions to ameliorate that risk have yet to be established for clinical use. A systematic review of prenatal nutrients and childhood emotional development and later mental illness was performed. Randomized trials of folic acid, phosphatidylcholine, and omega-3 fatty acid supplements assess effects of doses beyond those adequate to remedy deficiencies to promote normal fetal development despite genetic and environmental risks...
March 21, 2018: American Journal of Psychiatry
Maria Isabel de Oliveira, Gislene Mitsue Namiyama, Gabriela Bastos Cabral, João Leandro Ferreira, Noemi Taniwaki, Ana Maria Sardinha Afonso, Isabella Rillo Lima, Luís Fernando Macedo de Brigido
A great variety of viruses which cause exanthema share other clinical manifestations, making the etiologic identification a very difficult task, relying exclusively on the clinical examination. Rubella virus (RV) infection during the early stages of pregnancy can lead to serious birth defects, known as congenital rubella syndrome (CRS). In the present report, we described the presence of Zika virus (ZIKV) particles in urine samples and also ZIKV isolation in SIRC cells from the urine of a patient in acute phase of suspected rubella disease...
2018: Revista do Instituto de Medicina Tropical de São Paulo
Giovanni Iacono, Aline Dubos, Hamid Méziane, Marco Benevento, Ehsan Habibi, Amit Mandoli, Fabrice Riet, Mohammed Selloum, Robert Feil, Huiqing Zhou, Tjitske Kleefstra, Nael Nadif Kasri, Hans van Bokhoven, Yann Herault, Hendrik G Stunnenberg
Kleefstra syndrome, a disease with intellectual disability, autism spectrum disorders and other developmental defects is caused in humans by haploinsufficiency of EHMT1. Although EHMT1 and its paralog EHMT2 were shown to be histone methyltransferases responsible for deposition of the di-methylated H3K9 (H3K9me2), the exact nature of epigenetic dysfunctions in Kleefstra syndrome remains unknown. Here, we found that the epigenome of Ehmt1+/- adult mouse brain displays a marked increase of H3K9me2/3 which correlates with impaired expression of protocadherins, master regulators of neuronal diversity...
March 15, 2018: Nucleic Acids Research
Virendra N Sehgal, Navjeeven Singh, Sonal Sharma, Jolly Rohatgi, Rakesh Oberai, Kingshuk Chatterjee
An 11-year-old girl presented with an insidiously evolving, reddish-brown, small, hard, elevated lesion, occupying the midsection of her face, which had been present since early childhood. There were also a few small white spots over the trunk. There was no history of seizures or visual deficit, and no burning on exposure to sunlight. There were no known congenital defect noted at birth, and her parents were nonconsanguineous. There was no significant family history. There were numerous 2- to 4-mm reddish-brown papules located symmetrically on the nose, nasolabial folds, and cheeks (Figure 1A)...
2018: Skinmed
Barbara Mostacci, Francesca Bisulli, Elisabetta Poluzzi, Guido Cocchi, Carlo Piccinni, Alessandra Curti, Giuliana Simonazzi, Gianni Astolfi, Nicola Rizzo, Corrado Zenesini, Roberto D'Alessandro, Paolo Tinuper
OBJECTIVES: To assess the prevalence of antiepileptic drug (AED) exposure in pregnant women and the comparative risk of terminations of pregnancy (TOPs), spontaneous abortions, stillbirths, major birth defects (MBDs), neonatal distress and small for gestational age (SGA) infants following intrauterine AED exposure in the Emilia Romagna region, Italy (4 459 246 inhabitants on 31 December 2011). METHODS: We identified all deliveries and hospitalised abortions in Emilia Romagna in the period 2009-2011 from the certificate of delivery assistance registry (Certificato di Assistenza al Parto- CedAP) and the hospital discharge card registry, exposure to AEDs from the reimbursed drug prescription registries, MBDs from the regional registry of congenital malformations, and Apgar scores and cases of SGA from the CedAP...
March 16, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
A Gómez-Rojas, P Halevi
We have simulated aspects of intrinsic localized modes or discrete breathers in a modulated lumped transmission line with nonlinear varactors and a defect unit cell. As the inductance or capacitance of this cell is increased, a transition from instability to stability takes place. Namely, there exist threshold values of the inductance or capacitance of a lattice impurity for a breather to be able to attach to. A resistive defect can also anchor a breather. Moreover, by either gradually lowering all the source resistances, or else increasing the modulation frequency, multiple secondary ILMs can be spontaneously generated at host sites (with only a single inductive or capacitive defect)...
February 2018: Physical Review. E
Muralidhar Pai K, R Chandrasekhar Naidu, A Raja, Y S Rai, Niranjan Kumar, Anand Kini, Santhosh Joseph, Vinod Hegde, H S Ballal, Ramoorthi Rao, Saroja V Sharma, Vinay Kumar Valakatte
Craniopagus twins are conjoined twins fused at the cranium. This is the rarest anomaly seen in conjoined twins and craniopagus twins account for 2- 6% of conjoined twins. Conjoined twins are also extremely rare, with the anomaly seen in about 10-20 subjects per billion births. A female preponderance has been noted. Craniopagus twins can be classified into complete or partial, depending on whether or not they have shared dural venous sinuses. They can be further classified into angular or total depending on the alignment of the inter-twin longitudinal axis...
March 2018: Neurology India
Cathy Liu, Jade Lodge, Christopher Flatley, Alexander Gooi, Cameron Ward, Karen Eagleson, Sailesh Kumar
OBJECTIVE: To determine obstetric, intrapartum and perinatal outcomes for pregnancies with isolated fetal congenital heart defects (CHD). METHODS: This was a retrospective cohort study of women that delivered an infant with an isolated major CHD between January 2010 and April 2017 at a major Australian perinatal centre. The study cohort was compared with a cohort of women with infants without CHD. Cardiac abnormalities were broadly subdivided into the following five categories using the International Classification of Diseases Tenth Revision (ICD-10) as a guide - transposition of the great arteries (TGA), septal defects, right heart lesions (RHL), left heart lesions (LHL) and "other"...
March 16, 2018: Journal of Maternal-fetal & Neonatal Medicine
Ibtessam R Hussein, Rima S Bader, Adeel G Chaudhary, Randa Bassiouni, Maha Alquaiti, Fai Ashgan, Hans-Juergen Schulten, Mohammad H Al Qahtani
Congenital heart defects (CHDs) are the most common birth defects in neonatal life. CHDs could be presented as isolated defects or associated with developmental delay (DD) and/or other congenital malformations. A small proportion of cardiac defects are caused by chromosomal abnormalities or single gene defects; however, in a large proportion of cases no genetic diagnosis could be achieved by clinical examination and conventional genetic analysis. The development of genome wide array-Comparative Genomic Hybridization technique (array-CGH) allowed for the detection of cryptic chromosomal imbalances and pathogenic copy number variants (CNVs) not detected by conventional techniques...
March 14, 2018: Pediatric Cardiology
Ryo Hatano, Ai Takeda, Yukiko Abe, Kotoku Kawaguchi, Itsuro Kazama, Mitsunobu Matsubara, Shinji Asano
Ezrin is highly expressed in glomerular podocytes and is reported to form a multi-protein complex with scaffold protein Na+ /H+ exchanger regulatory factor 2 (NHERF2) and podocalyxin, a major sialoprotein. Podocalyxin-knockout mice died within 24 h of birth with anuric renal failure, whereas NHERF2-knockout mice show no apparent changes in the glomerular functions. However, the physiological roles of ezrin in glomerular podocytes remain unclear. Here, we investigated the importance of ezrin in the regulation of glomerular podocyte function using ezrin-knockdown mice (Vil2kd/kd )...
March 14, 2018: Scientific Reports
Bruno Hoen, Bruno Schaub, Anna L Funk, Vanessa Ardillon, Manon Boullard, André Cabié, Caroline Callier, Gabriel Carles, Sylvie Cassadou, Raymond Césaire, Maylis Douine, Cécile Herrmann-Storck, Philippe Kadhel, Cédric Laouénan, Yoann Madec, Alice Monthieux, Mathieu Nacher, Fatiha Najioullah, Dominique Rousset, Catherine Ryan, Kinda Schepers, Sofia Stegmann-Planchard, Benoît Tressières, Jean-Luc Voluménie, Samson Yassinguezo, Eustase Janky, Arnaud Fontanet
BACKGROUND: The risk of congenital neurologic defects related to Zika virus (ZIKV) infection has ranged from 6 to 42% in various reports. The aim of this study was to estimate this risk among pregnant women with symptomatic ZIKV infection in French territories in the Americas. METHODS: From March 2016 through November 2016, we enrolled in this prospective cohort study pregnant women with symptomatic ZIKV infection that was confirmed by polymerase-chain-reaction (PCR) assay...
March 15, 2018: New England Journal of Medicine
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