Read by QxMD icon Read

Prevalence of birth defects

M Schneider, I Schmeh, A Fruth, C Whybra-Trümpler, E Mildenberger
Monozygotic twins were previously regarded as "identical". By now an increasing number of case reports of monozygotic but discordant twins have been reported, and therefore discordance between monozygotic twins is being investigated intensively. We report a case of female preterm monozygotic twins who were discordant for fetal megacystis due to cloacal dysgenesis. Pregnancy was achieved after intracytoplasmatic sperm injection and transfer of 2 embryos. By the first trimester fetal megacystis with consecutive oligohydramnios and hypoplasia of the lungs was diagnosed...
October 2016: Zeitschrift Für Geburtshilfe und Neonatologie
M J Davies, A R Rumbold, J L Marino, K Willson, L C Giles, M J Whitrow, W Scheil, L J Moran, J G Thompson, M Lane, V M Moore
OBJECTIVE: To assess the contribution of maternal factors to major birth defects after in vitro fertilisation (IVF), intracytoplasmic sperm injection (ICSI), and natural conception. DESIGN: Retrospective cohort study in South Australia for the period January 1986 to December 2002. SETTING: A whole of population study. POPULATION: A census of all IVF and ICSI linked to registries for births, pregnancy terminations, and birth defects (diagnosed before a child's fifth birthday)...
October 17, 2016: BJOG: An International Journal of Obstetrics and Gynaecology
Elisabeth Leirgul, Kristoffer Brodwall, Gottfried Greve, Stein E Vollset, Henrik Holmstrøm, Grethe S Tell, Nina Øyen
OBJECTIVE: To investigate the association between pregestational or gestational diabetes and offspring risk of congenital heart defects and the association between large-for-gestational-age birth weight and risk of cardiac defects in offspring of diabetic women. METHODS: Information on pregestational and gestational diabetes, cardiac defects, and birth weight among all births in Norway in 1994-2009 was ascertained from the Medical Birth Registry of Norway, national health registries, and the Cardiovascular Disease in Norway project...
October 6, 2016: Obstetrics and Gynecology
Robert Brian Lowry, Tanya Bedard, Barbara Sibbald
Prevalence rates of amnion rupture sequence, limb body wall defect, and body wall defects vary widely. Comparisons are difficult due to small case numbers and the lack of agreement of definition, classification, and pathogenesis. This study reports the prevalence of cases classified in five distinct categories. The Alberta Congenital Anomalies Surveillance System data on live births, stillbirths, and terminations of pregnancy (<20 weeks gestation) occurring between 1980 through 2012 with the ICD-10 Royal College of Paediatrics and Child Health Adaptation codes used for congenital constriction bands (Q79...
October 14, 2016: American Journal of Medical Genetics. Part A
Reza Najafi, Mahin Hashemipour, Omid Yaghini, Fatemeh Najafi, Amirsalar Rashidianfar
CONTEXT: Aminoacidopathies refer to defects in protein synthesis pathways which result in a range of biochemical disorders and clinical presentations. The enzyme defects in intermediate metabolic pathways lead to accumulation of one or more amino acids or metabolites. Despite higher prevalence rates, screening infants for inherited metabolic disorders is not run in many Middle East countries. AIM: This research is part of a larger study of inherited metabolic disorders to characterize and measure the prevalence of aminoacidopathies...
September 2016: Indian Journal of Endocrinology and Metabolism
Hsin-Hsu Chou, Meng-Jiun Chiou, Fu-Wen Liang, Lea-Hua Chen, Tsung-Hsueh Lu, Chung-Yi Li
BACKGROUND: Information about known risk factors for congenital heart disease is scarce. In this population-based study, we aimed to investigate the relation between maternal chronic disease and congenital heart disease in offspring. METHODS: The study cohort consisted of 1 387 650 live births from 2004 to 2010. We identified chronic disease in mothers and mild and severe forms of congenital heart disease in their offspring from Taiwan's National Health Insurance medical claims...
October 11, 2016: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
Sara Mostafalou, Mohammad Abdollahi
Pesticides are a family of compounds which have brought many benefits to mankind in the agricultural, industrial, and health areas, but their toxicities in both humans and animals have always been a concern. Regardless of acute poisonings which are common for some classes of pesticides like organophosphoruses, the association of chronic and sub-lethal exposure to pesticides with a prevalence of some persistent diseases is going to be a phenomenon to which global attention has been attracted. In this review, incidence of various malignant, neurodegenerative, respiratory, reproductive, developmental, and metabolic diseases in relation to different routes of human exposure to pesticides such as occupational, environmental, residential, parental, maternal, and paternal has been systematically criticized in different categories of pesticide toxicities like carcinogenicity, neurotoxicity, pulmonotoxicity, reproductive toxicity, developmental toxicity, and metabolic toxicity...
October 8, 2016: Archives of Toxicology
Cheryl K Roth, Lindsey J Syed
von Willebrand disease is the most prevalent inherited bleeding disorder, affecting up to 1.3% of the population. It is caused by a defect or deficiency of the von Willebrand factor. Women with the condition may not be aware of their condition at the time of childbirth, but they are at high risk of postpartum hemorrhage even days after birth. In this article we briefly review the condition and specific considerations for the antepartum, intrapartum, and postpartum phases. It is important for nurses who care for women during childbirth to have a keen understanding of this condition...
October 2016: Nursing for Women's Health
María Paz Bidondo, Boris Groisman, Agostina Tardivo, Fabián Tomasoni, Verónica Tejeiro, Inés Camacho, Mariana Vilas, Rosa Liascovich, Pablo Barbero
BACKGROUND: Diprosopus is a subtype of symmetric conjoined twins with one head, facial duplication and a single trunk. Diprosopus is a very rare congenital anomaly. METHODS: This is a systematic review of published cases and the presentation of two new cases born in Argentina. We estimated the prevalence of conjoined twins and diprosopus using data from the National Network of Congenital Anomalies of Argentina (RENAC). RESULTS: The prevalence of conjoined twins in RENAC was 19 per 1,000,000 births (95% confidence interval, 12-29)...
October 5, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Esmaeil Mortaz, Payam Tabarsi, Davod Mansouri, Adnan Khosravi, Johan Garssen, Aliakbar Velayati, Ian M Adcock
The life span of patients with primary and secondary immunodeficiency is increasing due to recent improvements in therapeutic strategies. While the incidence of primary immunodeficiencies (PIDs) is 1:10,000 births, that of secondary immunodeficiencies are more common and are associated with posttransplantation immune dysfunction, with immunosuppressive medication for human immunodeficiency virus or with human T-cell lymphotropic virus infection. After infection, malignancy is the most prevalent cause of death in both children and adults with (PIDs)...
2016: Frontiers in Immunology
Sunil Kumar Rai, Royana Singh, Sharad Pandey, Kulwant Singh, Neeraj Shinde, Sangita Rai, Rajniti Prasad, Satya Narayan Shama
BACKGROUND: In the absence of primary care and prevailing associated social stigma, many patients of neural tube defects (NTDs) from remote areas die without getting any treatment. The high number of such untreated cases and unregistered deaths in these areas made us ponders to the fact that tertiary care center-based studies do not represent the true incidence of NTDs. MATERIALS AND METHODS: We did a population-based survey for NTDs births of rural areas from Jaunpur to Ghazipur district in Eastern Uttar Pradesh...
October 2016: Asian Journal of Neurosurgery
David M McKean, Jason Homsy, Hiroko Wakimoto, Neil Patel, Joshua Gorham, Steven R DePalma, James S Ware, Samir Zaidi, Wenji Ma, Nihir Patel, Richard P Lifton, Wendy K Chung, Richard Kim, Yufeng Shen, Martina Brueckner, Elizabeth Goldmuntz, Andrew J Sharp, Christine E Seidman, Bruce D Gelb, J G Seidman
Congenital heart disease (CHD), a prevalent birth defect occurring in 1% of newborns, likely results from aberrant expression of cardiac developmental genes. Mutations in a variety of cardiac transcription factors, developmental signalling molecules and molecules that modify chromatin cause at least 20% of disease, but most CHD remains unexplained. We employ RNAseq analyses to assess allele-specific expression (ASE) and biallelic loss-of-expression (LOE) in 172 tissue samples from 144 surgically repaired CHD subjects...
September 27, 2016: Nature Communications
Yu-Chao Jiang, Le-Le Kuang, Shu-Na Sun, Wen-Yuan Duan, Bin Qiao, Hong-Yan Wang
Congenital heart disease (CHD) is one of most prevalent birth defects in the world. However, the underlying molecular mechanism(s) have not been fully understood. Here we report that increased CHD susceptibility is associated with genetic polymorphisms for de novo nucleotide biosynthesis in northern Chinese population, which has been reported with lower plasma folate levels. Nine tagSNPs of four genes (GART, ATIC, MTHFD1 and SHMT1) in de novo nucleotide biosynthesis were sequenced in 802 sporadic CHDs patients and 1,093 controls from two Han Chinese populations, located in north China (Shandong) and South China (Shanghai)...
September 23, 2016: Clinical Genetics
Anita Saxena, Anurag Mehta, Mamta Sharma, Sudha Salhan, Mani Kalaivani, Sivasubramanian Ramakrishnan, Rajnish Juneja
OBJECTIVE: To assess the birth prevalence and pattern of congenital heart disease (CHD) using echocardiography in babies born in a community hospital of North India. METHODS: A cross-sectional observational study conducted over a period of 3 years. Newborns born over a specific 8-h period of the day were recruited in the study. They underwent routine clinical examination and pulse oximetry, followed by screening echocardiography for diagnosing a CHD. RESULTS: A total of 20,307 newborns were screened, among which 874 had abnormal echocardiograms; 687 had insignificant CHDs, 164 had significant CHDs, and 24 had other abnormal cardiac findings...
September 2016: Annals of Pediatric Cardiology
Na Li, Yan-Ling Chen, Jing Li, Li-Li Li, Cheng-Zhi Jiang, Chen Zhou, Cai-Xia Liu, Da Li, Ting-Ting Gong, Qi-Jun Wu, Yan-Hong Huang
To identify trends in the prevalence of gastroschisis on the basis of a large population-based observation study with cases identified by the Liaoning Birth Defects Registry including 14 cities over the course of a 10-year period. Data were obtained from the aforementioned registry which was maintained by the Liaoning Women and Children's Health Hospital, a comprehensive care institution as well as being responsible for the women's and children's health care guidance in this province. Gastroschisis prevalence, percent change, annual percent change (APC), and contribution rates of each city were calculated...
2016: Scientific Reports
Ting-Ting Gong, Qi-Jun Wu, Yan-Ling Chen, Cheng-Zhi Jiang, Jing Li, Li-Li Li, Cai-Xia Liu, Da Li, Chen Zhou, Yan-Hong Huang
To evaluate time trends of exomphalos prevalence using a large population-based study with cases identified by the Liaoning Birth Defects Registry including 14 cities over the course of a 10-year period. Exomphalos prevalence, percent change, annual percent change (APC), and contribution rates of each city were calculated. Additionally, epidemiological characteristics of this malformation were described. We observed 516 cases of exomphalos among 3,248,954 live births. Birth prevalence of exomphalos was 1.59 per 10,000 live births with non-significant change during the observational period (APC = -1...
2016: Scientific Reports
Nataliya S Demikova, Yulia V Vydrych, Marina A Podolnaya, Aleksandra S Lapina, Aliy Yu Asanov
BACKGROUND: This study examined the prevalence of esophageal atresia (EA) and the relationship between EA and demographic factors in the Russian Federation. METHODS: Data were obtained from a population-based congenital malformations registry across 14 years (2000-2013) in 24 regions of the Russian Federation and included cases of EA among live births and stillbirths. RESULTS: The total number of births was 6,478,706. There were 1317 cases of isolated EA, resulting in a rate of 2...
September 7, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Murali H Rao, Srikanth C Aluru, Cheranjeevi Jayam, Anila Bandlapalli, Nikunj Patel
Molar incisor hypomineralization (MIH) is a developmental defect affecting teeth. High prevalence rates of MIH and its clinical implications are significant for both the patients and clinicians. A wide variation in defect prevalence (2.4-40.2%) is reported. It seems to differ with regions and various birth cohorts. Some of the recent prevalence studies are tabulated. Patient implications include hypersensitive teeth, rapid progression of caries, mastication impairment due to rapid attrition, and esthetic repercussions...
2016: Journal of Contemporary Dental Practice
Rie Nishikata, Naho Kato, Miwako Suto, Mami Rinnou, Ikubumi Mizusawa, Naohito Kuroda
Ventricular septal defect (VSD) has a relatively non-aggressive clinical course; either spontaneous closure or causing congestive heart failure treatable with surgical intervention. We present two autopsy cases of sudden infant deaths from clinically undiagnosed VSDs. Case 1 was an 18-day-old boy. As the deceased coughed and became limp after feeding, he was carried to a hospital. Heart murmur was not auscultated there, so he was brought back to home. He presented severe dyspnea and then he was pronounced dead the next day...
September 2016: Legal Medicine
Frank Edwin, Kow Entsua-Mensah, Lawrence A Sereboe, Mark M Tettey, Ernest A Aniteye, Martin M Tamatey, Innocent Adzamli, Nana Akyaa-Yao, Kofi B Gyan, Ernest Ofosu-Appiah, David Kotei
BACKGROUND: The outcome of children born with conotruncal heart defects may serve as an indication of the status of pediatric cardiac care in sub-Saharan Africa (SSA). This study was undertaken to determine the outcome of children born with conotruncal anomalies in SSA, regarding access to treatment and outcomes of surgical intervention. METHODS: From our institution in Ghana, we retrospectively analyzed the outcomes of surgery, in the two-year period from June 2013 to May 2015...
September 2016: World Journal for Pediatric & Congenital Heart Surgery
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"