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Congenital birth defects

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https://www.readbyqxmd.com/read/27913015/the-association-between-ambient-air-pollution-and-selected-adverse-pregnancy-outcomes-in-china-a-systematic-review
#1
Milena Jacobs, Guicheng Zhang, Shu Chen, Ben Mullins, Michelle Bell, Lan Jin, Yuming Guo, Rachel Huxley, Gavin Pereira
The association between exposure to ambient air pollution and respiratory or cardiovascular endpoints is well-established. An increasing number of studies have shown that this exposure is also associated with adverse pregnancy outcomes. However, the majority of research has been undertaken in high-income western countries, with relatively lower levels of exposure. There is now a sufficient number of studies to warrant an assessment of effects in China, a relatively higher exposure setting. We conducted a systematic review of 25 studies examining the association between ambient air pollution exposure and adverse pregnancy outcomes (lower birth weight, preterm birth, mortality, and congenital anomaly) in China, published between 1980 and 2015...
November 29, 2016: Science of the Total Environment
https://www.readbyqxmd.com/read/27911897/heterologous-protection-against-asian-zika-virus-challenge-in-rhesus-macaques
#2
Matthew T Aliota, Dawn M Dudley, Christina M Newman, Emma L Mohr, Dane D Gellerup, Meghan E Breitbach, Connor R Buechler, Mustafa N Rasheed, Mariel S Mohns, Andrea M Weiler, Gabrielle L Barry, Kim L Weisgrau, Josh A Eudailey, Eva G Rakasz, Logan J Vosler, Jennifer Post, Saverio Capuano, Thaddeus G Golos, Sallie R Permar, Jorge E Osorio, Thomas C Friedrich, Shelby L O'Connor, David H O'Connor
BACKGROUND: Zika virus (ZIKV; Flaviviridae, Flavivirus) was declared a public health emergency of international concern by the World Health Organization (WHO) in February 2016, because of the evidence linking infection with ZIKV to neurological complications, such as Guillain-Barre Syndrome in adults and congenital birth defects including microcephaly in the developing fetus. Because development of a ZIKV vaccine is a top research priority and because the genetic and antigenic variability of many RNA viruses limits the effectiveness of vaccines, assessing whether immunity elicited against one ZIKV strain is sufficient to confer broad protection against all ZIKV strains is critical...
December 2016: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/27911332/type-0-spinal-muscular-atrophy-further%C3%A2-delineation-of-prenatal-and%C3%A2-postnatal-features-in-16-patients
#3
Sarah Grotto, Jean-Marie Cuisset, Stéphane Marret, Séverine Drunat, Patricia Faure, Séverine Audebert-Bellanger, Isabelle Desguerre, Vincent Flurin, Anne-Gaëlle Grebille, Anne-Marie Guerrot, Hubert Journel, Gilles Morin, Ghislaine Plessis, Sylvain Renolleau, Joëlle Roume, Brigitte Simon-Bouy, Renaud Touraine, Marjolaine Willems, Thierry Frébourg, Eric Verspyck, Pascale Saugier-Veber
BACKGROUND: Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2 genotype, the most severe genotype compatible with life, is expected to be associated with the most severe form of the disease, called type 0 SMA, defined by prenatal onset. OBJECTIVE: The aim of the study was to review clinical features and prenatal manifestations in this rare SMA subtype. METHODS: SMA patients with the 0SMN1/1SMN2 genotype were retrospectively collected using the UMD-SMN1 France database...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27894762/bilateral-congenital-diaphragmatic-hernia-prognostic-evaluation-of-a-large-international-cohort
#4
Sanne Mbi Botden, Kim Heiwegen, Iris Alm van Rooij, Horst Scharbatke, Pamela A Lally, Arno van Heijst, Ivo de Blaauw
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a lethal birth defect, which occurs in 1:2000-3000 live births. Bilateral CDH is a rare form (1%), with a high mortality. This study presents the outcomes of the largest cohort of bilateral CDH patients. METHODS: The records of patients with bilateral CDH from the Congenital Diaphragmatic Hernia Registry born between 1995 and 2015 were retrospectively analyzed to identify parameters associated with mortality. RESULTS: Eighty patients with a bilateral CDH were identified...
November 17, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27894567/proportion-of-selected-congenital-heart-defects-attributable-to-recognized-risk-factors
#5
Regina M Simeone, Sarah C Tinker, Suzanne M Gilboa, A J Agopian, Matthew E Oster, Owen J Devine, Margaret A Honein
PURPOSE: To assess the contribution of multiple risk factors for two congenital heart defects-hypoplastic left heart syndrome (HLHS) and tetralogy of Fallot (TOF). METHODS: We used data from the National Birth Defects Prevention Study (1997-2011) to estimate average adjusted population attributable fractions for several recognized risk factors, including maternal prepregnancy overweight-obesity, pregestational diabetes, age, and infant sex. RESULTS: There were 594 cases of isolated simple HLHS, 971 cases of isolated simple TOF, and 11,829 controls in the analysis...
December 2016: Annals of Epidemiology
https://www.readbyqxmd.com/read/27892791/cardiovascular-profile-score-as-a-predictor-of-acute-intrapartum-non-reassuring-fetal-status-in-infants-with-congenital-heart-defects
#6
Takekazu Miyoshi, Shinji Katsuragi, Reiko Neki, Ken-Ichi Kurosaki, Isao Shiraishi, Michikazu Nakai, Kunihiro Nishimura, Jun Yoshimatsu, Tomoaki Ikeda
OBJECTIVES: To investigate the predictive factors of urgent cesarean delivery (CD) due to acute intrapartum non-reassuring fetal status (NRFS) in infants with congenital heart defects (CHDs). STUDY DESIGN: This was a retrospective review of 199 singletons prenatally diagnosed with a CHD and for whom vaginal delivery was attempted in our institution between 2007 and 2014. A cardiovascular profile (CVP) score was used to assess fetal heart failure. RESULTS: The number of urgent CDs due to NRFS was 37 (18...
November 28, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27891785/editorial-brain-malformation-surveillance-in-the-zika-era
#7
EDITORIAL
Edwin Trevathan
The current surveillance systems for congenital microcephaly are necessary to monitor the impact of Zika virus (ZIKV) on the developing human brain, as well as the ZIKV prevention efforts. However, these congenital microcephaly surveillance systems are insufficient. Abnormalities of neuronal differentiation, development and migration may occur among infants with normal head circumference who have intrauterine exposure to ZIKV. Therefore, surveillance for congenital microcephaly does not ascertain many of the infants seriously impacted by congenital ZIKV infection...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27891784/characterizing-facial-features-in-individuals-with-craniofacial-microsomia-a-systematic-approach-for-clinical-research
#8
Carrie L Heike, Erin Wallace, Matthew L Speltz, Babette Siebold, Martha M Werler, Anne V Hing, Craig B Birgfeld, Brent R Collett, Brian G Leroux, Daniela V Luquetti
BACKGROUND: Craniofacial microsomia (CFM) is a congenital condition with wide phenotypic variability, including hypoplasia of the mandible and external ear. We assembled a cohort of children with facial features within the CFM spectrum and children without known craniofacial anomalies. We sought to develop a standardized approach to assess and describe the facial characteristics of the study cohort, using multiple sources of information gathered over the course of this longitudinal study and to create case subgroups with shared phenotypic features...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27891783/population-based-microcephaly-surveillance-in-the-united-states-2009-to-2013-an-analysis-of-potential-sources-of-variation
#9
Janet D Cragan, Jennifer L Isenburg, Samantha E Parker, C J Alverson, Robert E Meyer, Erin B Stallings, Russell S Kirby, Philip J Lupo, Jennifer S Liu, Amanda Seagroves, Mary K Ethen, Sook Ja Cho, MaryAnn Evans, Rebecca F Liberman, Jane Fornoff, Marilyn L Browne, Rachel E Rutkowski, Amy E Nance, Marlene Anderka, Deborah J Fox, Amy Steele, Glenn Copeland, Paul A Romitti, Cara T Mai
BACKGROUND: Congenital microcephaly has been linked to maternal Zika virus infection. However, ascertaining infants diagnosed with microcephaly can be challenging. METHODS: Thirty birth defects surveillance programs provided data on infants diagnosed with microcephaly born 2009 to 2013. The pooled prevalence of microcephaly per 10,000 live births was estimated overall and by maternal/infant characteristics. Variation in prevalence was examined across case finding methods...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27891781/geographic-distribution-of-live-births-with-tetralogy-of-fallot-in-north-carolina-2003-to-2012
#10
Jennifer S Nelson, Rebecca C Stebbins, Paula D Strassle, Robert E Meyer
BACKGROUND: Geographic variation in congenital heart disease is not well-described. This study uses geographic information systems (GIS) to describe the spatial epidemiology of tetralogy of Fallot (TOF), in North Carolina (NC) and to compare travel time for cases to congenital heart centers in NC. METHODS: Using the NC Birth Defects Monitoring Program database, live births with TOF born between 2003 and 2012 were identified. Birth certificates provided demographic variables...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27889789/effect-of-natural-cycle-endometrial-preparation-for-frozen-thawed-embryo-transfer-in-patients-with-advanced-endometriosis
#11
Haiyan Guo, Yun Wang, Qiuju Chen, Weiran Chai, Qifeng Lv, Yanping Kuang
BACKGROUND The aim of this study was to investigate the effect of natural cycle (NC) endometrial preparation for frozen-thawed embryo transfer (FET) in women with advanced endometriosis. MATERIAL AND METHODS This retrospective study included 179 patients with stage III-IV endometriosis who underwent 233 FET cycles at a tertiary care academic reproductive medical center between March 2011 and August 2013 (group A). The control group included 258 patients with tubal factor infertility who underwent 300 FET cycles (group B)...
November 27, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/27882312/supernumerary-nostril-a-case-report
#12
Bo-Eun Choi, Seung-O Ko, Hyo-Keun Shin
BACKGROUND: Supernumerary nostril is a congenital anomaly that contains additional nostril with or without accessory cartilage. These rare congenital nasal deformities result from embryological defects. Since 1906, Lindsay (Trans Pathol Soc Lond. 57:329-330, 1906) has published the first research of bilateral supernumerary nostrils, and only 34 cases have been reported so far in the English literature. CASE PRESENTATION: A 1-year-old female baby was brought to our department group for the treatment of an accessory opening above the left nostril which had been presented since her birth...
December 2016: Maxillofacial Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/27878457/poorly-understood-and-often-miscategorized-congenital-umbilical-cord-hernia-an-alternative-repair-method
#13
E İnce, A Temiz, S S Ezer, H Ö Gezer, A Hiçsönmez
PURPOSE: Umbilical cord hernia is poorly understood and often miscategorized as "omphalocele minor". Careless clamping of the cord leads to iatrogenic gut injury in the situation of umbilical cord hernia. This study aimed to determine the characteristics and outcomes of umbilical cord hernias. We also highlight an alternative repair method for umbilical cord hernias. METHODS: We recorded 15 cases of umbilical cord hernias over 10 years. The patients' data were retrospectively reviewed, and preoperative preparation of the newborn, gestational age, birth weight, other associated malformations, surgical technique used, enteral nutrition, and length of hospitalization were recorded...
November 22, 2016: Hernia: the Journal of Hernias and Abdominal Wall Surgery
https://www.readbyqxmd.com/read/27875028/congenital-malformations-in-offspring-of-women-with-a-history-of-malignancy
#14
Zahra Sabeti Rad, Britt Friberg, Emir Henic, Lars Rylander, Olof Ståhl, Bengt Källén, Göran Lingman
BACKGROUND: Survival after malignancy has increased and the question of risks, including risk for congenital malformations for the offspring of these women has become important. Data on congenital malformations in such offspring are limited. METHODS: We compared congenital malformation in offspring, born 1994 to 2011 of women with a history of malignancy (at least 1 year before delivery) with all other offspring. Adjustment for confounders was mainly made by Mantel-Haenszel methodology...
November 22, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27872786/congenital-diaphragmatic-hernia-with-delayed-presentation
#15
Alireza Malekzadegan, Alireza Sargazi
Congenital diaphragmatic hernia (CDH) is caused due to abnormal formation of the muscular parts of diaphragm. The incidence of CDH in common births ranges from 1/25000 to 1/30000. Pulmonary hypoplasia and pulmonary hypertension are factors that associate with the increase of mortality and morbidity due to CDH. We presented a 68-year-old Iranian woman with abdominal pain and tenderness in right upper quadrant who was diagnosed as having CDH. The disease was detected using chest X-ray and chest and abdomen sonography and confirmed with chest and abdomen CT scan with and without oral contrast...
2016: Case Reports in Surgery
https://www.readbyqxmd.com/read/27869383/-geographic-distribution-of-perinatal-mortality-due-to-congenital-malformations-in-colombia-1999-2008-an-analysis-of-vital-statistics-data
#16
Sandra Patricia Misnaza, Claudia Patricia Roncancio, Isabel Cristina Peña, Franklin Edwin Prieto
INTRODUCTION: During 2012, 13% of the deaths worldwide in children under the age of 28 days were due to congenital malformations. In Colombia, congenital malformations are the second leading cause of infant mortality. Objective: To determine the geographical distribution of extended perinatal mortality due to congenital malformations in Colombia between 1999 and 2008. Materials and methods: We conducted a cross-sectional study. We revised all death certificates issued between 1999 and 2008...
September 1, 2016: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/27863513/epidemiology-of-rubella-virus-cases-in-the-pre-vaccination-era-of-ethiopia-2009-2015
#17
Mekonen Getahun, Berhane Beyene, Kathleen Gallagher, Ayesheshem Ademe, Birke Teshome, Mesfin Tefera, Anjelo Asha, Aklog Afework, Esete Assefa, Yoseph HaileMariam, Yonas HaileGiorgis, Hiwot Ketema, Dejenie Shiferaw, Ayenachew Bekele, Daddi Jima, Amha Kebede
BACKGROUND: Rubella is a common mild rash illness caused by rubella virus. The majority of infections occur in children and young adults. The infection is the cause of a serious birth defect known as Congenital Rubella Syndrome (CRS) when a woman acquires infection early in pregnancy. Ethiopia has not yet established rubella virus surveillance and has not yet introduced rubella vaccine into the routine immunization program. We characterize the epidemiology of laboratory confirmed rubella virus cases collected through measles surveillance from 2009 to 2015 to better understand the burden of the disease in the country...
November 18, 2016: BMC Public Health
https://www.readbyqxmd.com/read/27859649/patterns-and-risk-factors-of-birth-defects-in-rural-areas-of-south-eastern-gabon
#18
Landry-Erik Mombo, Leslie-Monica Yangawagou-Eyeghe, Patrick Mickala, Jean Moutélé, Thierno-Souleymane Bah, Damehan Tchelougou, Cyrille Bisseye
Within the context of high neonatal mortality in sub-Saharan Africa, a retrospective study was conducted on the prevalence of congenital malformations and the association between maternal risk factors and birth defects in rural populations of south-eastern Gabon. Two populations were studied: a group of 3,500 births recorded in rural area (Koula-Moutou) and a second group of 4,212 births in a semi-rural area (Franceville) in Gabon. Our data showed an increasing prevalence in congenital anomalies from rural to urban areas (p < 0...
November 16, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27857806/newborn-with-congenital-facial-palsy-and-bilateral-anotia-atresia-of-external-auditory-canal-rare-occurrence
#19
Rohan R Mahale, Anish Mehta, Aju Abraham John, Kiran Buddaraju, Abhinandan K Shankar, Srinivasa Rangasetty
Congenital facial palsy (CFP) is clinically defined as facial palsy of the seventh cranial nerve which is present at birth or shortly thereafter. It is generally considered to be either developmental or acquired in origin. Facial palsy of developmental origin is associated with other anomalies including those of pinna and external auditory canal, which range from mild defects to severe microtia and atresia. We report a 2-day-old male newborn that had right CFP with bilateral anotia and atresia of external auditory canals which is rare...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27847120/the-risk-of-midgut-volvulus-in-patients-with-abdominal-wall-defects-a-multi-institutional-study
#20
Jason A Fawley, Abdelhafeez H Abdelhafeez, Jessica A Schultz, Allison Ertl, Laura D Cassidy, Shawn St Peter, Amy J Wagner
BACKGROUND: The management of malrotation in patients with congenital abdominal wall defects has varied among surgeons. We were interested in investigating the risk of midgut volvulus in patients with gastroschisis and omphalocele to help determine if these patients may benefit from undergoing a Ladd procedure. METHODS: A retrospective chart review was performed for all patients managed at three institutions born between 1/1/2000 and 12/31/2008 with a diagnosis of gastroschisis or omphalocele...
October 25, 2016: Journal of Pediatric Surgery
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