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Birth defects

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https://www.readbyqxmd.com/read/28432837/identifying-genetic-sources-of-phenotypic-heterogeneity-in-orofacial-clefts-by-targeted-sequencing
#1
Jenna C Carlson, Margaret A Taub, Eleanor Feingold, Terri H Beaty, Jeffrey C Murray, Mary L Marazita, Elizabeth J Leslie
BACKGROUND: Orofacial clefts (OFCs), including nonsyndromic cleft lip with or without cleft palate (NSCL/P), are common birth defects. NSCL/P is highly heterogeneous with multiple phenotypic presentations. Two common subtypes of NSCL/P are cleft lip (CL) and cleft lip with cleft palate (CLP) which have different population prevalence. Similarly, NSCL/P can be divided into bilateral and unilateral clefts, with unilateral being the most common. Individuals with unilateral NSCL/P are more likely to be affected on the left side of the upper lip, but right side affection also occurs...
April 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28429672/the-molecular-mechanisms-of-thalidomide-teratogenicity-and-implications-for-modern-medicine
#2
J Knobloch, D Jungck, A Koch
Thalidomide is a teratogen that affects many organs but primarily induces limb truncations like phocomelia. Rodents are thalidomide resistant. In the 1950s, this has led to misinterpretations of animal tests and to the fatal assumption that the drug was safe for pregnant women to use against morning sickness. The result was one of the biggest scandals in medical history: 10.000 and more infants with birth defects in Europe. Nonetheless, thalidomide still has its place in modern medicine as it has strong therapeutic potential: it has been approved by the FDA for multiple myeloma and erythema nodosum leprosum, and its anti-inflammatory, immunomodulatory and anti-angiogenic activities are considered in many other refractory diseases...
March 31, 2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/28429103/resolution-of-primary-immune-defect-in-22q11-2-deletion-syndrome
#3
Yiwa Suksawat, Achara Sathienkijkanchai, Jittima Veskitkul, Orathai Jirapongsananuruk, Nualanong Visitsunthorn, Pakit Vichyanond, Punchama Pacharn
PURPOSE: Patients with 22q11.2 deletion syndrome have a variable decrease in immunological parameters, especially regarding T cell counts. The aim of this study was to investigate immunological change over time and factors associated with immunological recovery among patients with 22q11.2 deletion syndrome. METHODS: Patients with 22q11.2 deletion syndrome diagnosed by fluorescence in situ hybridization (FISH) were studied. Immunological parameters were evaluated every 6 months until patients returned to normal...
April 20, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28428000/selected-oxidative-stress-biomarkers-in-antenatal-diagnosis-as-11-14-gestational-weeks
#4
Marek Pietryga, Piotr Dydowicz, Kinga Toboła, Marta Napierała, Izabela Miechowicz, Anna Gąsiorowska, Maciej Brązert, Ewa Florek
The primary objective in modern obstetrics and prenatal diagnosis is to predict risks of congenital abnormalities. The aim of the research was to assess the correlation between selected oxidative stress biomarkers with the risk of foetal chromosomal aberration evaluated at the first trimester screening. A series of studies show that balanced free radical activity and oxidative homeostasis are essential for proper bodily growth and function. Reactive oxygen species (ROS) may be one of the factors associated with disruption of cell cycle and tissue development, thus leading to developmental abnormalities...
April 17, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28427423/analysis-of-inequality-in-maternal-and-child-health-outcomes-and-mortality-from-2000-to-2013-in-china
#5
Yanting Li, Yimin Zhang, Shuai Fang, Shanshan Liu, Xinyu Liu, Ming Li, Hong Liang, Hua Fu
BACKGROUND: Inequality in maternal and child health seriously hinders the overall improvement of health, which is a concern in both the United Nations Sustainable Development Goals (SDGs) and Healthy China 2030. However, research on the equality of maternal and child health is scarce. This study longitudinally assessed the equality trends in China's maternal and child health outcomes from 2000 to 2013 based on place of residence and gender to improve the fairness of domestic maternal and child health...
April 20, 2017: International Journal for Equity in Health
https://www.readbyqxmd.com/read/28425218/recurrence-of-congenital-heart-defects-among-siblings-a-nationwide-study
#6
Kristoffer Brodwall, Gottfried Greve, Elisabeth Leirgul, Grethe S Tell, Stein E Vollset, Nina Øyen
Congenital heart defects (CHD) constitute the largest group of congenital malformations. In most families, only one person has CHD; however, the risk of CHD increases for children born into families already affected. In this study, all births from 1994 through 2009 were identified in the Medical Birth Registry of Norway, including supplemental information on CHD from clinical and administrative registers, as part of the CVDNOR project. By using the unique personal identification number of each parent we were able to link 16,078 pairs of twins, 445,584 pairs of full siblings, and 106,840 pairs of half-siblings...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28425186/association-studies-of-low-frequency-coding-variants-in-nonsyndromic-cleft-lip-with-or-without-cleft-palate
#7
Elizabeth J Leslie, Jenna C Carlson, John R Shaffer, Carmen J Buxó, Eduardo E Castilla, Kaare Christensen, Frederic W B Deleyiannis, Leigh L Field, Jacqueline T Hecht, Lina Moreno, Ieda M Orioli, Carmencita Padilla, Alexandre R Vieira, George L Wehby, Eleanor Feingold, Seth M Weinberg, Jeffrey C Murray, Mary L Marazita
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. Although genome-wide association studies have successfully identified a number of risk loci, these loci only account for about 20% of the heritability of orofacial clefts. The "missing" heritability may be found in rare variants, copy number variants, or interactions. In this study, we investigated the role of low-frequency variants genotyped in 1995 cases and 1626 controls on the Illumina HumanCore + Exome chip...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28422709/preterm-birth-among-women-living-within-600-meters-of-high-voltage-overhead-power-lines-a-case-control-study
#8
Taktom Sadeghi, Amirmasoud Ahmadi, Maryam Javadian, Sayyed Asghar Gholamian, Mouloud Agajani Delavar, Sedigheh Esmailzadeh, Bahare Ahmadi, Mozhgan Sadat Hassanpour Hadighi
AIM: The issue of preterm birth due to exposure to magnetic fields from power lines is unclear. Exposure to electromagnetic field in uterus has been hypothesized as possible preterm birth. The aim of the present study was to determine whether living closer to high voltage power lines increased the risk of preterm labor. METHODS: In a nested case-control study, 135 cases of singleton live spontaneous preterm birth in Rohani hospital, Babol, Iran, during the period between 2013 and 2014 were studied...
April 18, 2017: Romanian Journal of Internal Medicine, Revue Roumaine de Médecine Interne
https://www.readbyqxmd.com/read/28422192/polymorphisms-at-1q32-8q24-and-17q22-loci-are-associated-with-nonsyndromic-cleft-lip-with-or-without-cleft-palate-risk-in-the-slovak-population
#9
Jan Salagovic, Lucia Klimcakova, Marianna Zabavnikova, Jana Behunova, Terezia Hudakova, Jozef Fedeles, Agata Molnarova, Ludmila Podracka
BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is the most common orofacial birth defect with an aetiology involving both genetic and environmental factors. Genome-wide association studies (GWAS) have identified several genomic susceptibility regions for nsCL/P. In the present study, the three well established single nucleotide polymorphisms (SNPs) identified by GWAS (rs987525 at 8q24, rs7078160 at 10q25, and rs227731 at 17q22 loci) and one SNP identified by candidate gene study (rs642961 in IRF6 gene at 1q32 locus) were analysed for an association with nsCL/P in Slovak population...
March 30, 2017: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/28420617/application-and-progress-of-high-throughput-sequencing-technologies-in-the-research-of-hereditary-hearing-loss
#10
Wang Cuicui, Yuan Huijun
Hearing loss (HL) is the most common birth defect. Elucidating the genetic basis of hereditary deafness can not only assist diagnosis, provide the basis for genetic counseling and the prevention of deafness, but also bring a deeper understanding of the disease pathogenesis. In the genomic era, high-throughput sequencing technologies, represented by whole genome sequencing (WGS), whole exome sequencing (WES) or target region sequencing, have been widely used in the studies of hereditary HL. Here, we summarize the application and progress of WES and target region sequencing in the research of causative genes and clinical molecular diagnosis of hereditary HL, hoping to be helpful for the development and improvement of clinical genetic diagnosis of deafness in China...
March 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28416208/fetal-and-perinatal-stem-cells-in-cardiac-regeneration-moving-forward-to-the-paracrine-era
#11
C Balbi, S Bollini
Cardiovascular disease (CD) is a major burden for Western society. Regenerative medicine has provided encouraging results, yet it has not addressed the focal defects causing CD and mainly related to the inefficient repair programme of the heart. In this scenario, stem cells have been broadly investigated and their paracrine effect proposed as a possible working strategy to boost endogenous mechanisms of repair and regeneration from within the cardiac tissue. The scientific community is now focusing on identifying the most effective stem cell secretome, as the whole of bioactive factors and extracellular vesicles secreted by stem cells and endowed with regenerative potential...
April 12, 2017: Placenta
https://www.readbyqxmd.com/read/28416029/the-health-outcomes-of-human-offspring-conceived-by-assisted-reproductive-technologies-art
#12
M Chen, L K Heilbronn
Concerns have been raised about the health and development of children conceived by assisted reproductive technologies (ART) since 1978. Controversially, ART has been linked with adverse obstetric and perinatal outcomes, an increased risk of birth defects, cancers, and growth and development disorders. Emerging evidence suggests that ART treatment may also predispose individuals to an increased risk of chronic ageing related diseases such as obesity, type 2 diabetes and cardiovascular disease. This review will summarize the available evidence on the short-term and long-term health outcomes of ART singletons, as multiple pregnancies after multiple embryos transfer, are associated with low birth weight and preterm delivery, which can separately increase risk of adverse postnatal outcomes, and impact long-term health...
April 18, 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/28411382/interaction-between-maternal-and-paternal-shmt1-c1420t-predisposes-to-neural-tube-defects-in-the-fetus-evidence-from-case-control-and-family-based-triad-approaches
#13
Prasoona K Rebekah, Sunitha Tella, Srinadh Buragadda, Muni Kumari Tiruvatturu, Jyothy Akka
BACKGROUND: Neural tube defects (NTDs) are caused by the failure of neural tube formation which occurs during early embryonic development. NTDs are the most severe and leading cause of fetal mortality. Serine hydroxymethyl transferase (SHMT1) provides one-carbon units necessary for embryogenesis and defects in one-carbon production result in specific pathological conditions during pregnancy. The present study is aimed to evaluate the association of SHMT1 C1420T with NTD risk in the fetus using fetal, maternal and paternal groups by applying both case-control and family-based triad approaches...
April 14, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28409349/genetic-syndromes-affecting-kidney-development
#14
Abhijeet Pal, Kimberly J Reidy
Renal anomalies are common birth defects that may manifest as a wide spectrum of anomalies from hydronephrosis (dilation of the renal pelvis and calyces) to renal aplasia (complete absence of the kidney(s)). Aneuploidies and mosaicisms are the most common syndromes associated with CAKUT. Syndromes with single gene and renal developmental defects are less common but have facilitated insight into the mechanism of renal and other organ development. Analysis of underlying genetic mutations with transgenic and mutant mice has also led to advances in our understanding of mechanisms of renal development...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28409039/endodontic-management-of-teeth-juxtaposed-to-haemangioma
#15
Rekha Chandra Mani, Anchu Rachel Thomas, Premkumar Elavarasu, Vijay Venkatesh
Vascular anomalies are localized defects in the vasculature that may or may not be present at birth. There are many types of vascular anomalies with different aetiology and clinical picture and, therefore, require the combined expertise of medical, radiological, and surgical specialities for its diagnosis and management. The term "haemangioma" is used as a common generic label to incorporate all types of vascular malformations. In this report, we describe a case of two maxillary premolars, requiring endodontic therapy, in close proximity to a haemangioma...
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28407219/multiple-micronutrient-supplementation-for-women-during-pregnancy
#16
REVIEW
Batool A Haider, Zulfiqar A Bhutta
BACKGROUND: Multiple-micronutrient (MMN) deficiencies often coexist among women of reproductive age in low- to middle-income countries. They are exacerbated in pregnancy due to the increased demands, leading to potentially adverse effects on the mother and developing fetus. Though supplementation with MMNs has been recommended earlier because of the evidence of impact on pregnancy outcomes, a consensus is yet to be reached regarding the replacement of iron and folic acid supplementation with MMNs...
April 13, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28403053/zika-virus-infection-associated-with-congenital-birth-defects-in-a-hiv-infected-pregnant-woman
#17
Esaú Custódio João, Maria Isabel Fragoso da Silveira Gouvea, Maria de Lourdes Benamor Teixeira, Wallace Mendes-Silva, Juliana Silva Esteves, Edwiges Motta Santos, Leandro Augusto Ledesma, Ana Paula Gomes, Maria Letícia Cruz
We describe a case of Zika virus infection acquired during the first trimester in a HIV-infected pregnant woman that led to multiple fetal malformations and fetal demise in Rio de Janeiro, Brazil.
May 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28402597/gene-gene-interaction-of-single-nucleotide-polymorphisms-in-16p13-3-may-contribute-to-the-risk-of-non-syndromic-cleft-lip-with-or-without-cleft-palate-in-chinese-case-parent-trios
#18
Dongjing Liu, Hong Wang, Holger Schwender, Mary L Marazita, Zhuqing Wang, Yuan Yuan, Ping Wang, Kung Yee Liang, Yah Huei Wu-Chou, Mengying Wang, Bing Shi, Hongping Zhu, Tao Wu, Terri H Beaty
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect with a complex and heterogeneous etiology. A recent genome-wide association study (GWAS) among Chinese populations has identified a new region at 16p13.3 as being associated with NSCL/P, which requires further replication. Here, we attempted to replicate and further clarify the genetic association between this region and NSCL/P, as well as testing for potential gene-gene (G × G) and gene-environment (G × E) interactions...
April 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28402153/maternal-fetal-transmission-of-zika-virus-routes-and-signals-for-infection
#19
Bin Cao, Michael S Diamond, Indira U Mysorekar
The emerging mosquito-borne virus, Zika virus (ZIKV), has been causally associated with adverse pregnancy and neonatal outcomes, including miscarriage, microcephaly, serious brain abnormalities, and other birth defects indicative of a congenital ZIKV syndrome. In this review, we highlight work from human and animal studies on routes of infection in pregnancy that lead to adverse fetal and neonatal outcomes. A number of innate and adaptive immune mechanisms and signaling molecules that may have key roles in ZIKV infection pathogenesis are discussed along with putative viral entry pathways...
April 12, 2017: Journal of Interferon & Cytokine Research
https://www.readbyqxmd.com/read/28402073/infantile-hemangiomas-an-updated-review-on-risk-factors-pathogenesis-and-treatment
#20
REVIEW
Chelsey J Forbess Smith, Sheila Fallon Friedlander, Monica Guma, Arthur Kavanaugh, Christina D Chambers
Infantile hemangiomas (IHs) are the most common vascular tumors in infants, appearing in early infancy and ultimately regressing with time. Clinical presentation may vary, with a minority of lesions causing impairment of vital function (e.g., respiratory or visual obstruction), permanent scarring, and/or disfigurement. The pathogenesis of IH is complex and poorly understood. Risk factors implicated in their development include preterm birth and placental anomalies. IH presents a myriad of clinical challenges, including correct diagnosis and whether or not to pursue treatment...
April 12, 2017: Birth Defects Res
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