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Birth defects

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https://www.readbyqxmd.com/read/28635162/chlamydia-trachomatis-is-responsible-for-lipid-vacuolation-in-the-amniotic-epithelium-of-fetal-gastroschisis
#1
Marcia L Feldkamp, Diane M Ward, Theodore J Pysher, Christina T Chambers
BACKGROUND: Vacuolated amniotic epithelium with lipid droplets in gastroschisis placentas is an unusual finding. Mass spectrometry of lipid droplets identified triglycerides, ester-linked to an unusual pattern of fatty acids. We hypothesize that these findings result from a Chlamydia trachomatis infection during the periconceptional period. The rising incidence of chlamydia infections has paralleled the increasing prevalence of gastroschisis among women less than 25 years of age. Histologically, young women are at greatest risk for a chlamydia infection due to their immature columnar epithelium, the preferential site for attachment of Chlamydia trachomatis infectious particle (elementary body)...
June 21, 2017: Birth defects research
https://www.readbyqxmd.com/read/28635121/exposure-to-sodium-valproate-during-pregnancy-facial-features-and-signs-of-autism
#2
Rachel Stadelmaier, Hanah Nasri, Curtis K Deutsch, Margaret Bauman, Anne Hunt, Christopher J Stodgell, Jane Adams, Lewis B Holmes
BACKGROUND: Valproic acid (VPA) is the most teratogenic anticonvulsant drug in clinical use today. Children exposed prenatally to VPA have previously been shown to have dysmorphic craniofacial features, identified subjectively but not by anthropometric methods. Exposure to VPA has also been associated with an increased frequency of autism spectrum disorder (ASD). An increased cephalic index (the ratio of the cranial lateral width to the cranial anterior-posterior length) has been observed in children with ASD...
June 21, 2017: Birth defects research
https://www.readbyqxmd.com/read/28635116/maternal-smoking-alcohol-and-caffeine-exposures-and-risk-of-hypospadias
#3
Suzan L Carmichael, Chen Ma, Gary M Shaw
BACKGROUND: We examined the association of hypospadias risk with maternal smoking and consumption of alcohol and caffeine. METHODS: We analyzed data from mothers of 2437 moderate/severe cases and 5472 nonmalformed controls born from 1997 to 2011 who participated in the National Birth Defects Prevention Study (NBDPS). Exposures were assessed by maternal telephone interviews. Logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (95% CIs) adjusted for mother's age, parity, race-ethnicity, education, vitamin/mineral supplement intake, obesity, and study center...
June 21, 2017: Birth defects research
https://www.readbyqxmd.com/read/28635078/prevalence-of-orofacial-clefts-among-live-births-in-china-a-systematic-review-and-meta-analysis
#4
REVIEW
Mengying Wang, Yuan Yuan, Zifan Wang, Dongjing Liu, Zhuqing Wang, Feng Sun, Ping Wang, Hongping Zhu, Jing Li, Tao Wu, Terri H Beaty
BACKGROUND: Orofacial clefts (OFCs) are common human birth defects in China. However, studies on the prevalence of OFCs present inconsistent results. The overall prevalence and geographic distribution of OFCs are poorly described in China. Thus, we conducted a systematic review and meta-analysis to estimate the prevalence of OFCs. METHODS: The systematic review and meta-analysis were conducted on the basis of an established protocol (PROSPERO 2015: CRD42015030198)...
June 21, 2017: Birth defects research
https://www.readbyqxmd.com/read/28633567/endogenous-bioelectric-signaling-networks-exploiting-voltage-gradients-for-control-of-growth-and-form
#5
Michael Levin, Giovanni Pezzulo, Joshua M Finkelstein
Living systems exhibit remarkable abilities to self-assemble, regenerate, and remodel complex shapes. How cellular networks construct and repair specific anatomical outcomes is an open question at the heart of the next-generation science of bioengineering. Developmental bioelectricity is an exciting emerging discipline that exploits endogenous bioelectric signaling among many cell types to regulate pattern formation. We provide a brief overview of this field, review recent data in which bioelectricity is used to control patterning in a range of model systems, and describe the molecular tools being used to probe the role of bioelectrics in the dynamic control of complex anatomy...
June 21, 2017: Annual Review of Biomedical Engineering
https://www.readbyqxmd.com/read/28633270/surgical-correction-for-a-neonate-with-ebstein-s-anomaly-associated-with-tetralogy-of-fallot
#6
Ling-Yi Wei, Jin-Chung Shih, En-Ting Wu, Shyh-Jye Chen, Yih-Sharng Chen, Shu-Chien Huang
Ebstein's anomaly in combination with tetralogy of Fallot (TOF) is rare. We report a male infant with these combined anomalies who presented with severe cyanosis, heart failure, and respiratory distress after birth. Biventricular repair was successfully performed with 1-stage correction of his ventricular septal defect (VSD), right ventricular outflow tract (RVOT) obstruction, and tricuspid regurgitation. The downward displaced tricuspid valve was also restored to the normal annulus position. The infant recovered well...
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28631675/-the-morphological-and-clinical-aspects-of-the-curvature-of-the-nasal-septum
#7
V N Krasnozhen, D A Shcherbakov, A V Volodeev, L A Musina, Yu A Garskova
The curvature of the nasal septum (NS) is one of the most widespread deformations of the facial skeleton. The objective of the present study was to substantiate the principles of and develop the rationale for the surgical correction and conservative treatment of this condition based on the morphological features of various types of deflection of the nasal septum. We have undertaken the morphological analysis of the osseous and cartilaginous structures determining the type and the shape of the curvature of the nasal septum together with the clinical analysis of different morphological variants of the deflection of the nasal septum making use of the R...
2017: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/28630018/the-modified-ulaanbaatar-procedure-reduced-complications-and-enhanced-cosmetic-outcome-for-the-most-severe-cases-of-hypospadias
#8
V R Jayanthi, C B Ching, D G DaJusta, D J McLeod, S A Alpert
INTRODUCTION/OBJECTIVE: Proximal hypospadias is one of the most challenging conditions that pediatric urologists have to deal with. Many procedures have been devised over the years, but nothing has been proven to be the best option. Although there have been some attempts at correcting severe hypospadias in one procedure, most have advocated a staged approach. The classic approach - laying penile skin or a graft within a split glans followed by glanuloplasty at the second stage - by definition requires two operations on the glans...
May 18, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28629786/-pregnancy-and-delivery-for-women-with-congenital-spinal-cord-defects-and-neurogenic-bladder
#9
Q Manach, M Dommergues, P Denys, K Loiseau, B Idiard-Chamois, E Chartier-Kastler, V Phé
INTRODUCTION: Data are scarce regarding pregnancy and delivery among women with a neurogenic bladder due to congenital spinal cord defects. OBJECTIVE: To report the obstetrical and urological outcomes of women with congenital spinal cord defects and vesico-sphincteric disorders. METHODS: A retrospective multicentric study included all consecutive women with a neurogenic bladder due to congenital spinal defects, who delivered between January 2005 and December 2014...
June 16, 2017: Progrès en Urologie
https://www.readbyqxmd.com/read/28629737/the-obligatory-role-of-activin-a-in-the-formation-of-heterotopic-bone-in-fibrodysplasia-ossificans-progressiva
#10
Dana M Alessi Wolken, Vincent Idone, Sarah J Hatsell, Paul B Yu, Aris N Economides
Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder that presents at birth with only minor patterning defects, but manifests its debilitating pathology early in life with episodic, yet progressive and cumulative, heterotopic ossification (HO) of ligaments, tendons, and a subset of major skeletal muscles. The resulting HO lesions are endochondral in nature, and appear to be linked to inflammatory stimuli arising in association with known injuries, or from inflammation linked to normal tissue repair...
June 16, 2017: Bone
https://www.readbyqxmd.com/read/28628360/genetic-risk-factors-for-folate-responsive-neural-tube-defects
#11
Anne M Molloy, Faith Pangilinan, Lawrence C Brody
Neural tube defects (NTDs) are the most severe congenital malformations of the central nervous system. The etiology is complex, with both genetic and environmental factors having important contributions. Researchers have known for the past two decades that maternal periconceptional use of the B vitamin folic acid can prevent many NTDs. Though this finding is arguably one of the most important recent discoveries in birth defect research, the mechanism by which folic acid exerts this benefit remains unknown. Research to date has focused on the hypothesis that an underlying genetic susceptibility interacts with folate-sensitive metabolic processes at the time of neural tube closure...
June 19, 2017: Annual Review of Nutrition
https://www.readbyqxmd.com/read/28627638/meiotic-defects-and-decreased-expression-of-genes-located-around-the-chromosomal-breakpoint-in-the-testis-of-a-patient-with-a-novel-46-x-t-y-1-p11-3-p31-translocation
#12
Guangyuan Li, Furhan Iqbal, Liu Wang, Zhipeng Xu, Xiaoyan Che, Wen Yu, Liang Shi, Tonghang Guo, Guixiang Zhou, Xiaohua Jiang, Huan Zhang, Yuanwei Zhang, Dexin Yu
Balanced translocations are known to be associated with infertility, spontaneous abortions and birth defects in mammals. Spermatocyte spreading and immunostaining were applied to detect meiotic prophase I progression, homologous chromosome pairing, synapsis and recombination in an azoospermic reciprocal translocation 46,X,t(Y;1)(p11.3;p31) carrier. Histological examination of testicular sections revealed a severely reduced number of germ cells with no spermatids or sperm in the carrier. A significant reduction in XY recombination was observed in the patient...
June 14, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28627098/effect-of-concomitant-birth-defects-and-genetic-anomalies-on-infant-mortality-in-tetralogy-of-fallot
#13
Eric G Jernigan, Paula D Strassle, Rebecca C Stebbins, Robert E Meyer, Jennifer S Nelson
BACKGROUND: A substantial proportion of infants born with tetralogy of Fallot (TOF) die in infancy. A better understanding of the heterogeneity associated with TOF, including extracardiac malformations and chromosomal anomalies is vital to stratifying risk and optimizing outcomes during infancy. METHODS: Using the North Carolina Birth Defects Monitoring Program, infants diagnosed with TOF and born between 2003 and 2012 were included. Kaplan-Meier survival curves were used to estimate cumulative 1-year mortality, stratified by the presence of concomitant birth defects (BDs) and chromosomal anomalies...
June 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28624953/genome-wide-analysis-of-differential-dna-methylation-in-silver-russell-syndrome
#14
Di Wu, Chunxiu Gong, Chang Su
Silver-Russell Syndrome (SRS) is clinically heterogeneous disorder characterized by low birth weight, postnatal growth restriction, and variable dysmorphic features. Current evidence strongly implicates imprinted genes as an important etiology of SRS. Although almost half of the patients showed DNA hypomethylation at the H19/IGF2 imprinted domain, and approximately 7%-10% of SRS patients have maternal uniparental disomy of chromosome 7 (UPD (7) mat); the rest of the SRS patients shows unknown etiology. In this study, we investigate whether there are further DNA methylation defects in SRS patients...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28624760/how-do-smoking-cessation-medicines-compare-with-respect-to-their-neuropsychiatric-safety-a-protocol-for-a-systematic-review-network-meta-analysis-and-cost-effectiveness-analysis
#15
Kyla H Thomas, Deborah Caldwell, Michael N Dalili, David Gunnell, Marcus R Munafò, Matt Stevenson, Nicky J Welton
INTRODUCTION: Cigarette smoking is one of the leading causes of early death in the UK and worldwide. Public health guidance recommends the use of varenicline, bupropion and nicotine replacement therapy (NRT) as smoking cessation aids in the UK. Additionally, the first electronic cigarette has been licensed for use as a smoking cessation medicine. However, there are ongoing concerns about the safety of these medicines. We present a protocol for a systematic review and network meta-analysis (NMA) to determine how these smoking cessation medicines compare to each other with respect to their neuropsychiatric safety in adult smokers...
June 17, 2017: BMJ Open
https://www.readbyqxmd.com/read/28624314/anatomical-and-refractive-outcomes-in-patients-with-treated-retinopathy-of-prematurity
#16
M Lolas, A Tuma, M Zanolli, R Agurto, R Stevenson, D Ossandón
OBJECTIVE: To describe the anatomical and refractive outcomes after treatment with intravitreal bevacizumab or laser in a patient cohort with retinopathy of prematurity (ROP). METHODS: A multicentre, prospective, and observational study was performed on patients with ROP treated at Hospital Roberto del Río. Those patients with less than 6months of follow-up were excluded. Cases with posterior zone II, zone I ROP, and aggressive posterior ROP (AP-ROP) were treated with intravitreal bevacizumab...
June 14, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28621685/active-evolution-of-memory-b-cells-specific-to-viral-gh-gl-pul128-130-131-pentameric-complex-in-healthy-subjects-with-silent-human-cytomegalovirus-infection
#17
Lin Xia, Aimin Tang, Weixu Meng, Daniel C Freed, Linling He, Dai Wang, Fengsheng Li, Leike Li, Wei Xiong, Xun Gui, Robbie D Schultz, Haotai Chen, Xi He, Ryan Swoyer, Sha Ha, Yaping Liu, Charles D Morris, Yu Zhou, I-Ming Wang, Qinjian Zhao, Wenxin Luo, Ningshao Xia, Amy S Espeseth, Daria J Hazuda, Richard E Rupp, Alan D Barrett, Ningyan Zhang, Jiang Zhu, Tong-Ming Fu, Zhiqiang An
Human cytomegalovirus (HCMV) can cause life-threatening infection in immunosuppressed patients, and in utero infection that may lead to birth defects. No vaccine is currently available. HCMV infection in healthy subjects is generally asymptomatic, and virus persists as latent infection for life. Host immunity is effective against reactivation and super-infection with another strain. Thus, vaccine candidates able to elicit immune responses similar to those of natural infection may confer protection. Since neutralization is essential for prophylactic vaccines, it is important to understand how antiviral antibodies are developed in natural infection...
June 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28620608/a-path-to-implement-precision-child-health-cardiovascular-medicine
#18
REVIEW
Marlin Touma, Brian Reemtsen, Nancy Halnon, Juan Alejos, J Paul Finn, Stanley F Nelson, Yibin Wang
Congenital heart defects (CHDs) affect approximately 1% of live births and are a major source of childhood morbidity and mortality even in countries with advanced healthcare systems. Along with phenotypic heterogeneity, the underlying etiology of CHDs is multifactorial, involving genetic, epigenetic, and/or environmental contributors. Clear dissection of the underlying mechanism is a powerful step to establish individualized therapies. However, the majority of CHDs are yet to be clearly diagnosed for the underlying genetic and environmental factors, and even less with effective therapies...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28619850/risk-of-major-birth-defects-rises-with-severity-of-mother-s-overweight
#19
Zosia Kmietowicz
No abstract text is available yet for this article.
June 14, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28619823/sin3a-regulates-epithelial-progenitor-cell-fate-during-lung-development
#20
Changfu Yao, Gianni Carraro, Bindu Konda, Xiangrong Guan, Takako Mizuno, Norika Chiba, Matthew Kostelny, Adrianne Kurkciyan, Gregory David, Jonathan L McQualter, Barry R Stripp
Mechanisms that regulate tissue-specific progenitors for maintenance and differentiation during development are poorly understood. Here, we demonstrate that the co-repressor protein Sin3a is critical for lung endoderm development. Loss of Sin3a in early foregut endoderm leads to a specific and profound defect in lung development with lung buds failing to undergo branching morphogenesis and progressive atrophy of the proximal lung endoderm with complete epithelial loss at later stages of development. Consequently, neonatal pups died at birth due to respiratory insufficiency...
June 15, 2017: Development
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