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https://www.readbyqxmd.com/read/29149533/monocyte-specific-knockout-of-c-ebp%C3%AE-results-in-osteopetrosis-phenotype-blocks-bone-loss-in-ovariectomized-mice-and-reveals-an-important-function-of-c-ebp%C3%AE-in-osteoclast-differentiation-and-function
#1
Wei Chen, Guochun Zhu, Joel Jules, Diep Nguyen, Yi-Ping Li
CCAAT/enhancer-binding protein α (C/ebpα) is critical for osteoclastogenesis by regulating osteoclast (OC) lineage commitment and is also important for OC differentiation and function in vitro. However, the role of C/ebpα in postnatal skeletal development has not been reported owing to lethality in C/ebpα(-/-) mice from hypoglycemia within 8 hours after birth. Herein, we generated conditional knockout mice by deleting the C/ebpα gene in monocyte via LysM-Cre to examine its role in OC differentiation and function...
November 17, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29148186/undescended-testis-what-paediatricians-need-to-know
#2
REVIEW
John M Hutson, Jaya Vikraman, Ruili Li, Joergen Thorup
Undescended testis (UDT) occurs when something goes wrong with testicular descent from high in the abdominal cavity to the scrotum. Normal descent occurs in two steps, with the transabdominal phase controlled by a new testicular hormone, insulin-like hormone 3, and the inguinoscrotal phase controlled by androgens. The latter phase requires a complex process of migration from the inguinal abdominal wall to the scrotum and is commonly defective, leading to the high incidence (2-4%) of UDT at birth. The clinical examination of babies and infants aims to confirm the persistence of congenital UDT by 3-6 months, so surgery can be optimally timed at 6-12 months...
November 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/29147912/tracheal-agenesis-optimization-of-computed-tomography-diagnosis-by-airway-ventilation
#3
REVIEW
Marirosa Cristallo Lacalamita, Sebastien Fau, Aurelie Bornand, Isabelle Vidal, Antonella Martino, Isabelle Eperon, Seema Toso, Anne-Laure Rougemont, Sylviane Hanquinet
Tracheal agenesis is a rare and often lethal congenital defect that leads to airway emergency at birth. Computed tomography (CT) is the modality of choice to evaluate anomalous tracheal anatomy. The absence of spontaneous aeration of the tracheobronchial tree in children with tracheal agenesis makes CT interpretation difficult. We describe a procedure of airway management applied in two newborns with suspected tracheal agenesis. Correct airway management was performed immediately prior to CT examination by airway ventilation, with bag-valve mask alone in one case, and attached to an endotracheal tube placed into the esophagus in the other case...
November 17, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/29146644/a-national-cohort-study-evaluating-infant-and-fetal-mortality-caused-by-birth-defects-in-korea
#4
Hyun Sun Ko, Dong Joo Kim, Yoohyun Chung, Jeong Ha Wie, Sae Kyung Choi, In Yarg Park, Yong Gyu Park, Jong Chul Shin
OBJECTIVE: To analyse the prevalence of fetal and infant deaths due to birth defects in Korea and those trends according to maternal age. DESIGN: Retrospective national cohort study SETTING: Korean Vital Statistics database of the Korean Statistical Information Service, between 2009 and 2015. PARTICIPANTS: 2176 infant deaths and 4343 fetal deaths caused by birth defects, among 3 181 145 total live births and 43 385 fetal deaths during the study periods...
November 15, 2017: BMJ Open
https://www.readbyqxmd.com/read/29145928/note-of-clarification-potential-risks-to-offspring-of-intrauterine-exposure-to-maternal-age-related-obstetric-complications
#5
Juan J Tarín, Miguel A García-Pérez, Antonio Cano
Several hypotheses have been proposed to explain the negative effects of delayed motherhood on an offspring's morbidity later in life. However, these hypotheses are not supported by clinical and epidemiological evidence. Because advanced maternal age is associated with increased risk of obstetric complications, the aim of the present study was to ascertain whether the negative effects on offspring of intrauterine exposure to maternal age-related obstetric complications may explain the reported negative effects of delayed motherhood on offspring...
August 2017: Reproduction, Fertility, and Development
https://www.readbyqxmd.com/read/29145433/maternal-folic-acid-supplementation-and-dietary-folate-intake-and-congenital-heart-defects
#6
Baohong Mao, Jie Qiu, Nan Zhao, Yawen Shao, Wei Dai, Xiaochun He, Hongmei Cui, Xiaojuan Lin, Ling Lv, Zhongfeng Tang, Sijuan Xu, Huang Huang, Min Zhou, Xiaoying Xu, Weitao Qiu, Qing Liu, Yawei Zhang
BACKGROUND: It has been reported that folic acid supplementation before and/or during pregnancy could reduce the risk of congenital heart defects (CHDs). However, the results from limited epidemiologic studies have been inconclusive. We investigated the associations between maternal folic acid supplementation, dietary folate intake, and the risk of CHDs. METHODS: A birth cohort study was conducted in 2010-2012 at the Gansu Provincial Maternity & Child Care Hospital in Lanzhou, China...
2017: PloS One
https://www.readbyqxmd.com/read/29145358/progress-in-rubella-and-congenital-rubella-syndrome-control-and-elimination-worldwide-2000-2016
#7
Gavin B Grant, Susan E Reef, Minal Patel, Jennifer K Knapp, Alya Dabbagh
Although rubella virus infection usually causes a mild fever and rash illness in children and adults, infection during pregnancy, especially during the first trimester, can result in miscarriage, fetal death, stillbirth, or infants with a constellation of congenital malformations known as congenital rubella syndrome (CRS) (1). Rubella is a leading vaccine-preventable cause of birth defects. Preventing these adverse pregnancy outcomes is the focus of rubella vaccination programs. In 2011, the World Health Organization (WHO) updated guidance on the preferred strategy for introduction of rubella-containing vaccine (RCV) into national immunization schedules and recommended an initial vaccination campaign, usually targeting children aged 9 months-14 years (1)...
November 17, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29142446/hysterosalpingographic-hsg-pattern-of-infertility-in-women-of-reproductive-age
#8
Chinwe R Onwuchekwa, Vaduneme K Oriji
Background: Infertility is a complex disorder with significant medical, psychological and economic problems. Aims: The aim of the study is to evaluate the structural abnormalities of the uterus and fallopian tubes in infertile women as elucidated by hysterosalpingography. Setting and Design: A retrospective study, conducted at the Radiology and Obstetric and Gynaecologic Departments of a tertiary health care institution. Materials and Methods: Evaluation of all consecutive patients in whom hysterosalpingographic (HSG) was performed for infertility between July 2013 and June 2015 in the Department of Radiology...
July 2017: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/29141329/-association-between-illness-and-mental-status-in-pregnant-women-and-birth-defects
#9
D D Zhao, Y X Dai, L Q Guo, R Liu, H L Wang, B B Mi, S N Dang, H Yan
Objective: To understand the prevalence of birth defects, related diseases and mental status of women during pregnancy in Shaanxi province and to analyse the major risk factors on birth defects and congenital heart disease. Possible association between maternal diseases or mental status and the risk of birth defects, was also explored. Methods: A cross-sectional design was used in this study and stratified multistage random sampling method was used. The whole survey was from Jury 2013 to November 2013. Logistic regression method was used to analyze the association between maternal diseases, mental status during pregnancy and birth defects...
November 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/29138679/modulatory-mechanism-of-polyphenols-and-nrf2-signaling-pathway-in-lps-challenged-pregnancy-disorders
#10
REVIEW
Tarique Hussain, Bie Tan, Gang Liu, Ghulam Murtaza, Najma Rahu, Muhammad Saleem, Yulong Yin
Early embryonic loss and adverse birth outcomes are the major reproductive disorders that affect both human and animals. The LPS induces inflammation by interacting with robust cellular mechanism which was considered as a plethora of numerous reproductive disorders such as fetal resorption, preterm birth, teratogenicity, intrauterine growth restriction, abortion, neural tube defects, fetal demise, and skeletal development retardation. LPS-triggered overproduction of free radicals leads to oxidative stress which mediates inflammation via stimulation of NF-κB and PPARγ transcription factors...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29134775/changes-in-sensitivity-to-the-effects-of-atrazine-on-the-luteinizing-hormone-surge-in-female-sprague-dawley-rats-after-repeated-daily-doses-correlation-with-liver-enzyme-expression
#11
Charles B Breckenridge, Chad D Foradori, Pragati Sawhney Coder, James W Simpkins, Robert L Sielken, Robert J Handa
BACKGROUND: Atrazine suppression of the LH surge slowly develops over time and peaks after 4 days; sensitivity to atrazine decreases after 8 or 14 days of dosing. Adaptation of the LH response was correlated with increased phase I and phase II liver enzyme activity/expression. METHODS: The effect of atrazine on the LH surge was evaluated in female Sprague-Dawley rats administered 100 mg/kg/day atrazine by gavage for 1, 2, 3, or 4 consecutive days or 6.5, 50, or 100 mg/kg/day atrazine for 4, 8, or 14 days...
November 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/29133009/periconceptional-maternal-fever-folic-acid-intake-and-the-risk-for-neural-tube-defects
#12
Stephen M Kerr, Samantha E Parker, Allen A Mitchell, Sarah C Tinker, Martha M Werler
PURPOSE: Previous studies have shown an association between maternal fever in early pregnancy and neural tube defects (NTDs) such as spina bifida. Periconceptional folic acid intake has been shown to reduce the risk of these outcomes. METHODS: Using data from the Slone Epidemiology Center Birth Defects Study (1998-2015), we examined the impact of folic acid on the relationship between maternal fever in the periconceptional period (28 days before and after the last menstrual period) and NTDs...
November 2, 2017: Annals of Epidemiology
https://www.readbyqxmd.com/read/29131701/are-the-level-of-knowledge-and-practices-of-pregnant-women-regarding-folic-acid-supplementation-still-inadequate-a-cross-sectional-study-in-a-middle-eastern-urban-setting
#13
Antoine Aoun, Lara Faddoul, Flora El Jabbour, Nada El Osta, Sani Hlais, Lana El Osta
This observational cross-sectional study aimed to examine the knowledge and practices of pregnant women in North Lebanon regarding periconceptional folic acid (FA) supplementation. A convenience sample of pregnant women attending gynecology clinics in North Lebanon was recruited between May and September 2013. Data were collected from a face-to-face interview performed by a trained local dietician as well as from review of obstetric charts. A total of 465 women were included in the study. Only 37 (7.9%) were aware of the role of FA in preventing birth defects, while 129 (27...
November 13, 2017: Journal of Dietary Supplements
https://www.readbyqxmd.com/read/29131674/congenital-malformations-resembling-vacterl-association-in-a-golden-retriever
#14
Araceli Gamito-Gómez, Rodrigo Gutierrez-Quintana, Annette Wessmann
A 2 mo old golden retriever presented with malformation of the left thoracic limb and a small circular indentation of the skin in the cranial thoracic spine. Radiographs showed a cleft between the second and fifth metacarpal bones of the left thoracic limb compatible with ectrodactyly and spina bifida affecting T4 and T5 vertebrae. Magnetic resonance imaging of the thoracic spine showed dorsal reposition of the spinal cord and a tract connecting from the dura mater to the skin. No other malformations were detected...
November 13, 2017: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/29130667/-pregnant-outcomes-of-multiparae-in-women-with-advanced-age-%C3%A2-35-years-after-the-2008-wenchuan-earthquake
#15
Jing Fu, Xue-Jiao Li, Hui-Li Zhu, Yong Song, Shi-Yuan Yang, Jing Tan, Guo-Jun Zhou, Wei Huang
OBJECTIVE: To evaluate pregnancy outcomes of multiparae in women with advanced age (≥35 yr.) after the 2008 Wenchuan earthquake. METHODS: Clinical data of 542 pregnant women with prenatal care in Wenchuan during 20082013 were reviewed,comparing preconception conditions,pregnant rates,pregnant complications,and perinatal outcomes between those younger ( n=176) and older ( n=366) than 35 years. RESULTS: In the 542 women,622 conceptions were reported,with 517 deliveries and 522 live births...
September 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/29128566/restoration-of-polr1c-in-early-embryogenesis-rescues-the-type-3-treacher-collins-syndrome-facial-malformation-phenotype-in-zebrafish
#16
Ernest Man Lok Kwong, Jeff Cheuk Hin Ho, Marco Chi Chung Lau, May-Su You, Yun-Jin Jiang, William Ka Fai Tse
Treacher Collins Syndrome (TCS) is a rare congenital birth disorder (1 in 50,000 live births) characterized by severe craniofacial defects. Recently, our group unfolded the pathogenesis of polr1c Type 3 TCS by using the zebrafish model. Facial development depends on the neural crest cells, in which polr1c plays a role in regulating its expression. In this report, we aim to identify the functional time window of polr1c in TCS by the use of photo-morpholino to restore the polr1c expression at different time points...
November 8, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/29126909/-demographic-analysis-of-a-congenital-heart-disease-clinic-of-the-mexican-institute-of-social-security-with-special-interest-in-the-adult
#17
Horacio Márquez-González, Lucelli Yáñez-Gutiérrez, Jimena Lucely Rivera-May, Diana López-Gallegos, Eduardo Almeida-Gutiérrez
INTRODUCTION: Congenital heart disease (CHD) has an incidence of 8-10 cases per 1000 live births. In Mexico, there are 18,000-20,000 new cases per year. Most tertiary care centers for CHD attend only pediatric population; the Mexican Institute of Social Security (IMSS) has a clinic that attends pediatric and adult population. OBJECTIVE: To analyze the demographic aspects of the CHD clinic of IMSS. METHODS: From 2011 to 2016 a cross-sectional study of the CC clinic of a third level hospital of the IMSS, including all patients with confirmed structural heart disease of recent diagnosis was carried out...
November 7, 2017: Archivos de Cardiología de México
https://www.readbyqxmd.com/read/29126229/osteoblast-amp-activated-protein-kinase-regulates-postnatal-skeletal-development-in-male-mice
#18
Ippei Kanazawa, Ayumu Takeno, Ken-Ichiro Tanaka, Masakazu Notsu, Toshitsugu Sugimoto
Studies have shown that AMP-activated protein kinase (AMPK), a crucial regulator of energy homeostasis, plays important roles in osteoblast differentiation and mineralization. However, little is known about in vivo roles of osteoblastic AMPK in bone development. Thus, to investigate in vivo roles of osteoblast AMPK, we conditionally inactivated Ampk in osterix (Osx)-expressing cells by crossing Osx-Cre mice with floxed AMPKα1 to generate mice lacking AMPKα1 in osteoblasts (Ampk-/- mice). Compared with wild-type and Ampk+/- mice, Ampk-/- mice displayed retardation of postnatal bone development, although bone deformity was not observed at birth...
November 3, 2017: Endocrinology
https://www.readbyqxmd.com/read/29126155/isl1-mediates-mesenchymal-expansion-in-the-developing-external-genitalia-via-regulation-of-bmp4-fgf10-and-wnt5a
#19
Saunders T Ching, Carlos R Infante, Wen Du, Amnon Sharir, Sungdae Park, Douglas B Menke, Ophir D Klein
Genital malformations are among the most common human birth defects, and both genetic and environmental factors can contribute to these malformations. Development of the external genitalia in mammals relies on complex signaling networks, and disruption of these signaling pathways can lead to genital defects. Islet-1 (ISL1), a member of the LIM/Homeobox family of transcription factors, has been identified as a major susceptibility gene for classic bladder exstrophy in humans, a common form of the bladder exstrophy-epispadias complex (BEEC), and is implicated in a role in urinary tract development...
November 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29125517/genetic-epidemiology-of-neural-tube-defects
#20
Philip J Lupo, A J Agopian, Heidi Castillo, Jonathan Castillo, Gerald H Clayton, Nienke P Dosa, Betsy Hopson, David B Joseph, Brandon G Rocque, William O Walker, John S Wiener, Laura E Mitchell
It has been estimated that 60-70% of neural tube defects (NTDs) have a genetic component, but few causative genes have been identified. The lack of information on genes associated with non-syndromic NTDs in humans is especially notable as the "genomic revolution" has led to new tools (e.g., genome-wide genotyping arrays, next-generation sequencing) that are helping to elucidate the full spectrum of genetic variation (from common to rare) contributing to complex traits, including structural birth defects. However, the application of modern genomic approaches to the study of NTDs has lagged behind that of some other common structural birth defects...
October 20, 2017: Journal of Pediatric Rehabilitation Medicine
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