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https://www.readbyqxmd.com/read/28346269/cohort-variation-in-selection-during-pregnancy-and-risk-of-selected-birth-defects-among-males
#1
Tim A Bruckner, Deborah Karasek, Wei Yang, Gary M Shaw, Ralph A Catalano
BACKGROUND: The literature theorizes, but does not test, that variation over time in selective loss in utero affects the observed count of live-born birth defects cases. We test the hypothesis that the risk of birth defects among live-born males varies inversely with the strength of selection against males in utero. METHODS: We identified a subset of six birth defect phenotypes among males from the California Birth Defects Monitoring Program, an active surveillance system for over 490,000 male singletons born in eight California counties from 1986 through 2004...
March 23, 2017: Epidemiology
https://www.readbyqxmd.com/read/28344955/association-of-citalopram-with-congenital-anomalies-a-meta-analysis
#2
Hyun-Hye Kang, Ki Hoon Ahn, Soon-Cheol Hong, Bo Yong Kwon, Eun Hee Lee, Ji-Sung Lee, Min-Jeong Oh, Hai-Joong Kim
OBJECTIVE: The antenatal use of citalopram, a widely prescribed selective serotonin reuptake inhibitor, has been suspected to be associated with congenital, particularly cardiac, anomalies. This study aimed to prove the association between citalopram use and congenital anomalies. METHODS: We searched the English literature from July 1998 to July 2015, by using the search terms ' citalopram', ' pregnancy', ' birth defects', ' congenital anomalies', and ' malformations' in PubMed, Embase, Web of Science, and the Cochrane Library...
March 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28343557/infants-born-to-opioid-dependent-women-in-ontario-2002-2014
#3
Susan B Brogly, Suzanne Turner, Katherine Lajkosz, Greg Davies, Adam Newman, Ana Johnson, Kimberly Dow
BACKGROUND: There is a paucity of data characterizing mother-infant pairs with prenatal opioid dependence in Canada. We therefore conducted a study of relevant births in Ontario from 2002 to 2014. METHODS: We used data from the Institute for Clinical Evaluative Sciences, the linked databases of coded population-based Ontario health services records. Differences in characteristics of opioid-dependent mother-neonate pairs and infant hospital costs by year were assessed using linear regression, and we calculated rates of preterm birth, low birth weight, birth defects, mortality, and neonatal abstinence syndrome...
March 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28342876/increased-activity-of-unlinked-zika-virus-ns2b-ns3-protease-compared-to-linked-zika-virus-protease
#4
Benjamin D Kuiper, Kristin Slater, Nicholas Spellmon, Joshua Holcomb, Prasanna Medapureddy, Kendall M Muzzarelli, Zhe Yang, Reuben Ovadia, Franck Amblard, Iulia A Kovari, Raymond F Schinazi, Ladislau C Kovari
Zika virus (ZIKV) is a flavivirus spread by daytime-active Aedes spp. mosquitoes such as A. aegypti and A. albopictus. Previously thought to be a mild infection, the latest ZIKV outbreak in the Americas is causally associated with more severe symptoms as well as severe birth defects, such as microcephaly. Currently no vaccine or antiviral exists. However, recent progress has demonstrated the viral NS2B/NS3 protease may be a suitable target for the development of small-molecule antiviral agents. To better understand the ZIKV protease, we expressed, purified, and characterized unlinked and linked NS2B/NS3 protease corresponding to an isolate from the recent outbreak in Puerto Rico...
March 22, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28342423/a-bioinformatics-approach-to-designing-a-zika-virus-vaccine
#5
Sumanta Dey, Ashesh Nandy, Subhash C Basak, Papiya Nandy, Sukhen Das
The Zika virus infections have reached epidemic proportions in the Latin American countries causing severe birth defects and neurological disorders. While several organizations have begun research into design of prophylactic vaccines and therapeutic drugs, computer assisted methods with adequate data resources can be expected to assist in these measures to reduce lead times through bioinformatics approaches. Using 60 sequences of the Zika virus envelope protein available in the GenBank database, our analysis with numerical characterization techniques and several web based bioinformatics servers identified four peptide stretches on the Zika virus envelope protein that are well conserved and surface exposed and are predicted to have reasonable epitope binding efficiency...
March 10, 2017: Computational Biology and Chemistry
https://www.readbyqxmd.com/read/28337935/a-novel-approach-in-the-treatment-of-neonatal-gastroschisis-a-review-of-the-literature-and-a-single-center-experience
#6
Vito Briganti, Daniela Luvero, Caterina Gulia, Roberto Piergentili, Simona Zaami, Elsa Laura Buffone, Cristina Vallone, Roberto Angioli, Claudio Giorlandino, Fabrizio Signore
Gastroschisis is a congenital abdominal wall defect and its management remains an issue. We performed a review of the literature to summarize its evaluation, management and outcome and we describe a new type of surgical reduction performed in our center without anesthesia (GA), immediately after birth, in the delivery room. Between January 2002 and March 2013, we enrolled all live born infants with gastroschisis referred to the third level Division of Obstetrics and Gynecology "San Camillo" of Rome.Two groups of infants were identified: group 1 in which gastroschis reduction was performed by the traditional technique and group 2 in which reduction was immediately performed after birth in the delivery room without GA...
March 24, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28336768/care-of-girls-and-women-with-turner-syndrome-beyond-growth-and-hormones
#7
Caroline Culen, Diana-Allexandra Ertl, Katharina Schubert, Lisa Bartha-Doering, Gabriele Haeusler
Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2,500 female births. TS is characterized by distinctive physical features such as short stature, ovarian dysgenesis, an increased risk for heart and renal defects as well as a specific cognitive and psychosocial phenotype. Given the complexity of the condition, patients face manifold difficulties which increase over the lifespan. Furthermore, failures during the transitional phase to adult care result in moderate health outcomes and decreased quality of life...
March 23, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28336146/an-investigation-of-connections-between-birth-defects-and-cancers-arising-in-adolescence-and-very-young-adulthood
#8
Julie Von Behren, Paul Graham Fisher, Suzan L Carmichael, Gary M Shaw, Peggy Reynolds
This study investigated the relationship between birth defects and cancer in adolescents and very young adults using California's population-based registries. Although overall cancer risk was elevated among individuals with chromosomal birth defects, this was not observed in those with nonchromosomal birth defects, as was demonstrated previously in younger children.
March 20, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28334989/impaired-fetal-muscle-development-and-jak-stat-activation-mark-disease-onset-and-progression-in-a-mouse-model-for-merosin-deficient-congenital-muscular-dystrophy
#9
Andreia M Nunes, Ryan D Wuebbles, Apurva Sarathy, Tatiana M Fontelonga, Marianne Deries, Dean J Burkin, Sólveig Thorsteinsdóttir
Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a dramatic neuromuscular disease in which crippling muscle weakness is evident from birth. Here we use the dyW mouse model for human MDC1A to trace the onset of the disease during development in utero. We find that myotomal and primary myogenesis proceed normally in homozygous dyW-/-embryos. Fetal dyW-/-muscles display the same number of myofibers as wildtype muscles, but by E18.5 dyW-/-muscles are significantly smaller and muscle size is not recovered post-natally...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28331629/congenital-diaphragmatic-hernia-a-review
#10
REVIEW
Praveen Kumar Chandrasekharan, Munmun Rawat, Rajeshwari Madappa, David H Rothstein, Satyan Lakshminrusimha
Congenital Diaphragmatic hernia (CDH) is a condition characterized by a defect in the diaphragm leading to protrusion of abdominal contents into the thoracic cavity interfering with normal development of the lungs. The defect may range from a small aperture in the posterior muscle rim to complete absence of diaphragm. The pathophysiology of CDH is a combination of lung hypoplasia and immaturity associated with persistent pulmonary hypertension of newborn (PPHN) and cardiac dysfunction. Prenatal assessment of lung to head ratio (LHR) and position of the liver by ultrasound are used to diagnose and predict outcomes...
2017: Maternal Health, Neonatology and Perinatology
https://www.readbyqxmd.com/read/28329947/-air-pollution-and-adverse-birth-outcome-in-china-a-comprehensive-review
#11
P F Zhu, Y Zhang, J Ban, T T Li, X M Shi
Objective: To summarize the progress in the research of the association between air pollution and adverse birth outcomes in China. Methods: A literature retrieval was conducted by using the databases of CNKI, Wanfang, Pubmed, Science Direct, and Web of Science to select relevant research papers published before 30(th), June 2016 in China according to inclusion criteria. Finally, 27 papers were included in analysis. Results: Exposure to particulate matter (PM(10)), sulfur dioxide (SO(2)), nitrogen dioxide (NO(2)), total suspended particles (TSP) during pregnancy might increase risk for low birth weight; exposure to PM(10), SO(2), NO(2) during pregnancy might increase risk for premature birth; and exposure to SO(2), NO(2), ozone (O(3)), and PM(10) during pregnancy might increase risk for congenital heart diseases and other birth defects...
March 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28329726/folate-biofortification-in-food-crops
#12
REVIEW
Simon Strobbe, Dominique Van Der Straeten
Folates are essential vitamins in the human diet. Folate deficiency is still very common, provoking disorders such as birth defects and anemia. Biofortification via metabolic engineering is a proven powerful means to alleviate folate malnutrition. A variety of metabolic engineering approaches have been successfully implemented in different crops and tissues. Furthermore, ensuring folate stability is crucial for long-term storage of crop products. However, the current strategies, shown to be successful in rice and tomato, will need to be fine-tuned to enable adequate biofortification of other staples such as potato, wheat and cassava...
March 19, 2017: Current Opinion in Biotechnology
https://www.readbyqxmd.com/read/28326341/cdc42-is-crucial-for-facial-and-palatal-formation-during-craniofacial-development
#13
Mutsuko Oshima-Nakayama, Atsushi Yamada, Tamaki Kurosawa, Ryo Aizawa, Dai Suzuki, Yoshiro Saito, Hidetoshi Kassai, Yuki Sato, Matsuo Yamamoto, Tatsuo Shirota, Atsu Aiba, Koutaro Maki, Ryutaro Kamijo
Craniofacial deformities with multifactorial etiologies, such as cleft palate and facial dysmorphism, represent some of the most frequent congenital birth defects seen in humans. Their pathogeneses are often related to cranial neural crest (CNC) cells. During CNC cell migration, changes in cell shape and formation, as well as maintenance of subcellular structures, such as filopodia and lamellipodia, are dependent on the complex functions of Rho family small GTPases, which are regulators of actin cytoskeletal organization...
December 2016: Bone Reports
https://www.readbyqxmd.com/read/28324067/gestational-protein-restriction-impairs-glucose-disposal-in-the-gastrocnemius-muscles-of-female-rats
#14
C S Blesson, V Chinnathambi, S Kumar, C Yallampalli
Gestational low protein (LP) diet causes hyperglycemia and insulin resistance in adult offspring but the mechanism is not clearly understood. In this study, we explored the role of insulin signaling in gastrocnemius muscles of gestational LP exposed female offspring. Pregnant rats were fed control (20% protein) or isocaloric LP (6%) diet from gestational day 4 until delivery. Normal diet was given to mothers after delivery and to pups after weaning until necropsy. Offspring were euthanized at 4 months and gastrocnemius muscles were treated with insulin ex vivo for 30 min...
January 30, 2017: Endocrinology
https://www.readbyqxmd.com/read/28323386/the-association-of-maternal-lymphatic-markers-and-critical-congenital-heart-defects-in-the-fetus-a-population-based-case-control-study
#15
Martina A Steurer, Mary E Norton, Rebecca J Baer, Gary M Shaw, Sheila Keating, Anita J Moon-Grady, Christina D Chambers, Laura L Jelliffe-Pawlowski
The objective ot this study was to investigate whether lymphatic markers measured in women during the second trimester are associated with critical congenital heart defects (CCHDs) in offspring. This is a retrospective cohort study of pregnant women who participated in the California Prenatal Screening Program. CCHD data in the offspring was captured by linking birth certificate data with hospital patient discharge records. Second trimester samples were assayed for vascular endothelial growth factor (VEGF), platelet derived growth factor (PDGF) AA/BB, and PDGF AB...
March 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28320512/effect-of-congenital-heart-disease-on-4-year-neurodevelopment-within-multiple-gestation-births
#16
Amy H Schultz, Richard F Ittenbach, Marsha Gerdes, Gail P Jarvik, Gil Wernovsky, Judy Bernbaum, Cynthia Solot, Robert R Clancy, Susan C Nicolson, Thomas L Spray, Donna McDonald-McGinn, Elaine Zackai, J William Gaynor
OBJECTIVES: We sought to assess the effect of congenital heart disease requiring infant surgery with cardiopulmonary bypass on neurodevelopmental outcomes and growth at 4 years of age, while matching for gestational age, socioeconomic status, maternal gestational conditions, home environment, and parental intelligence by studying multiple-gestation births. METHODS: We performed within-family comparison of 14 multiple-gestation births in which 1 child had congenital heart disease requiring surgery with cardiopulmonary bypass at ≤6 months of age...
February 21, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28319315/maxillofacial-features-and-systemic-malformations-in-expanded-spectrum-hemifacial-microsomia
#17
Noah Cohen, Erica Cohen, Alberto Gaiero, Silvia Zecca, Graziella Fichera, Federica Baldi, Joseph Felix Giordanetto, Jacques Marie Mercier, Amnon Cohen
Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and caused by unilateral abnormal morphogenesis of the first and second pharyngeal arches. The aim of this study is to define the types and frequency of maxillofacial and systemic malformations in HFM patients. This is a case series study of patients with HFM evaluated at a single institution. Data were acquired through history, physical examination, photographs, diagnostic radiology, and laboratory and analyzed by the FileMakerPro database on 95 patients (54F; 41M) of which 89 met the inclusion criteria...
March 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28318359/zika-virus-and-eye
#18
Rupesh Agrawal, Hnin Hnin Oo, Praveen Kumar Balne, Lisa Ng, Louis Tong, Yee Sin Leo
Zika virus (ZIKV), a mosquito-borne flavivirus, is the latest global health concern. Transmission is mainly via Aedes mosquitoes and the infection can be diagnosed on molecular or serologic testings. It typically causes a mild self-remitting illness of low-grade fever, maculopapular rash, and myalgia, but when severe, it is associated with neurological deficits and congenital structural defects. Ocular manifestations are usually mild like nonpurulent conjunctivitis in adults, though it may be linked to uveitis, maculopathy, and hypertensive iridocyclitis...
March 20, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/28316463/the-role-of-serotonin-transporter-in-human-lung-development-and-in-neonatal-lung-disorders
#19
E C C Castro, P Sen, W T Parks, C Langston, C Galambos
Introduction. Failure of the vascular pulmonary remodeling at birth often manifests as pulmonary hypertension (PHT) and is associated with a variety of neonatal lung disorders including a uniformly fatal developmental disorder known as alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV). Serum serotonin regulation has been linked to pulmonary vascular function and disease, and serotonin transporter (SERT) is thought to be one of the key regulators in these processes. We sought to find evidence of a role that SERT plays in the neonatal respiratory adaptation process and in the pathomechanism of ACD/MPV...
2017: Canadian Respiratory Journal: Journal of the Canadian Thoracic Society
https://www.readbyqxmd.com/read/28303347/genome-wide-enrichment-of-damaging-de-novo-variants-in-patients-with-isolated-and-complex-congenital-diaphragmatic-hernia
#20
Mauro Longoni, Frances A High, Hongjian Qi, Maliackal P Joy, Regis Hila, Caroline M Coletti, Julia Wynn, Maria Loscertales, Linshan Shan, Carol J Bult, Jay M Wilson, Yufeng Shen, Wendy K Chung, Patricia K Donahoe
Congenital Diaphragmatic Hernia (CDH) is a common and often lethal birth defect characterized by diaphragmatic structural defects and pulmonary hypoplasia. CDH is isolated in 60% of newborns, but may also be part of a complex phenotype with additional anomalies. We performed whole exome sequencing (WES) on 87 individuals with isolated or complex CDH and on their unaffected parents, to assess the contribution of de novo mutations in the etiology of diaphragmatic and pulmonary defects and to identify new candidate genes...
March 16, 2017: Human Genetics
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