Talk:Human Abnormal Development - Revision history

Z8600021 at 23:02, 24 Mayıs 2020

2020-05-24T23:02:39Z

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			==2020==

			{{#pmid:32442191}}

			'''A graph theory approach to analyze birth defect associations'''

			Birth defects are prenatal morphological or functional anomalies. Associations among them are studied to identify their etiopathogenesis. The graph theory methods allow analyzing relationships among a complete set of anomalies. A graph consists of nodes which represent the entities (birth defects in the present work), and edges that join nodes indicating the relationships among them. The aim of the present study was to validate the graph theory methods to study birth defect associations. All birth defects monitoring records from the Estudio Colaborativo Latino Americano de Malformaciones Congénitas gathered between 1967 and 2017 were used. From around 5 million live and stillborn infants, 170,430 had one or more birth defects. Volume-adjusted Chi-Square was used to determine the association strength between two birth defects and to weight the graph edges. The complete birth defect graph showed a Log-Normal degree distribution and its characteristics differed from random, scale-free and small-world graphs. The graph comprised 118 nodes and 550 edges. Birth defects with the highest centrality values were nonspecific codes such as Other upper limb anomalies. After partition, the graph yielded 12 groups; most of them were recognizable and included conditions such as VATER and OEIS associations, and Patau syndrome. Our findings validate the graph theory methods to study birth defect associations. This method may contribute to identify underlying etiopathogeneses as well as to improve coding systems.

	==2019==		==2019==

Z8600021 at 00:33, 14 November 2019

2019-11-14T00:33:08Z

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			==2019==

			===Hh signaling from de novo organizers drive lgl neoplasia in Drosophila epithelium===

			Dev Biol. 2019 Sep 23. pii: S0012-1606(19)30322-7. doi: 10.1016/j.ydbio.2019.09.011. [Epub ahead of print]

			Bajpai A1, Sinha P2.
			Author information
			1
			Department of Biological Sciences and Bioengineering, Indian Institute of Technology Kanpur, Kanpur, 208 016, India. Electronic address: anjalii@iitk.ac.in.
			2
			Department of Biological Sciences and Bioengineering, Indian Institute of Technology Kanpur, Kanpur, 208 016, India. Electronic address: pradips@iitk.ac.in.


			The Hedgehog (Hh) morphogen regulates growth and patterning. Since Hh signaling is also implicated in carcinogenesis, it is conceivable that de novo Hh-secreting organizers, if formed in association with oncogenic hit could be tumor-cooperative. Here we validate this hypothesis using the Drosophila model of cooperative epithelial carcinogenesis. We generate somatic clones with simultaneous loss of tumor suppressor, Lgl, and gain of the posterior compartment selector, Engrailed (En), known to induce synthesis of Hh. We show that lgl UAS-en clones in the anterior wing compartment trigger Hh signaling cascade via cross-talk with their Ci-expressing wild type cell neighbors. Hh-Dpp signaling from clone boundaries of such ectopically formed de novo organizers in turn drive lgl carcinogenesis. By contrast, Ci-expressing lgl clones transform by autocrine and/or juxtracine activation of Hh signaling in only the posterior compartment. We further show that sequestration of the Hh ligand or loss of Dpp receptor, Tkv, in these Hh-sending or -receiving lgl clones arrested their carcinogenesis. Our results therefore reveal a hitherto unrecognized mechanism of tumor cooperation by developmental organizers, which are induced fortuitously by oncogenic hits.

			Copyright © 2019 Elsevier Inc. All rights reserved.
			KEYWORDS:
			Developmental organizer; Hh signaling; Tumor cooperation; lgl
			PMID: 31557471 DOI: 10.1016/j.ydbio.2019.09.011


	==2018==		==2018==

Z8600021 at 23:35, 1 August 2019

2019-08-01T23:35:20Z

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	Health Worker Roles in Providing Safe Abortion Care and Post-Abortion Contraception. Geneva: World Health Organization; 2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK316326/		Health Worker Roles in Providing Safe Abortion Care and Post-Abortion Contraception. Geneva: World Health Organization; 2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK316326/

			===An assessment of sex bias in neurodevelopmental disorders===

			Genome Med. 2015 Aug 27;7:94. doi: 10.1186/s13073-015-0216-5.

			Polyak A1, Rosenfeld JA2,3, Girirajan S4,5,6.

			BACKGROUND:
			Neurodevelopmental disorders such as autism and intellectual disability have a sex bias skewed towards boys; however, systematic assessment of this bias is complicated by the presence of significant genetic and phenotypic heterogeneity of these disorders.
			METHODS:
			To assess the extent and characteristics of sex bias, we analyzed the frequency of comorbid features, the magnitude of genetic load, and the existence of family history within 32,155 individuals ascertained clinically for autism or intellectual disability/developmental delay (ID/DD), including a subset of 8,373 individuals carrying rare copy-number variants (CNVs).
			RESULTS:
			We find that girls were more likely than boys to show comorbid features within both autism (P = 2.9 × 10(-6), OR = 1.34) and ID/DD (P = 7.2 × 10(-4), OR = 1.08) cohorts. The frequency of comorbid features in ID/DD was higher in boys (1q21.1 deletion, 15q11.2q13.1 duplication) or girls (15q13.3 deletion, 16p11.2 deletion) carrying specific CNVs associated with variable expressivity while such differences were the smallest for syndromic CNVs (Smith-Magenis syndrome, DiGeorge syndrome). The extent of the male sex bias also varied according to the specific comorbid feature, being most extreme for autism with psychiatric comorbidities and least extreme for autism comorbid with epilepsy. The sex ratio was also specific to certain CNVs, from an 8:1 male:female ratio observed among autistic individuals carrying the 22q11.2 duplication to 1.3:1 male:female ratio in those carrying the 16p11.2 deletion. Girls carried a higher burden of large CNVs compared to boys for autism or ID/DD, and this difference diminished when severe comorbidities were considered. Affected boys showed a higher frequency of neuropsychiatric family histories such as autism (P = 0.01) or specific learning disability (P = 0.03), while affected girls showed a higher frequency of developmental family histories such as growth abnormalities (P = 0.02).
			CONCLUSIONS:
			The sex bias within neurodevelopmental disorders is influenced by the presence of specific comorbidities, specific CNVs, mutational burden, and pre-existing family history of neurodevelopmental phenotypes.
			PMID: 26307204 PMCID: PMC4549901 DOI: 10.1186/s13073-015-0216-5


	==2014==		==2014==

Z8600021 at 09:49, 27 Haziran 2019

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 ==2018==
 ===Recurrent pregnancy loss: A summary of international evidence-based guidelines and practice===

Z8600021 at 23:43, 3 September 2018

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-==20015==
+===Recurrent pregnancy loss: A summary of international evidence-based guidelines and practice===
 ===Health Worker Roles in Providing Safe Abortion Care and Post-Abortion Contraception===

Z8600021 at 02:22, 27 Ocak 2016

2016-01-27T02:22:09Z

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			==20015==
			===Health Worker Roles in Providing Safe Abortion Care and Post-Abortion Contraception===

			Health Worker Roles in Providing Safe Abortion Care and Post-Abortion Contraception. Geneva: World Health Organization; 2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK316326/

	==2014==		==2014==

Z8600021 at 05:52, 4 Mayıs 2014

2014-05-04T05:52:21Z

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			==2014==

	==2013==		==2013==

Z8600021 at 08:26, 6 Haziran 2013

2013-06-06T08:26:03Z

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			{{Talk Page}}

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Z8600021 at 08:10, 6 Haziran 2013

2013-06-06T08:10:44Z

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			==2013==

			===Ten-Year Review of Major Birth Defects in VLBW Infants===

			Pediatrics. 2013 Jun 3. [Epub ahead of print]

			Adams-Chapman I, Hansen NI, Shankaran S, Bell EF, Boghossian NS, Murray JC, Laptook AR, Walsh MC, Carlo WA, Sánchez PJ, Van Meurs KP, Das A, Hale EC, Newman NS, Ball MB, Higgins RD, Stoll BJ; for the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network.
			Source
			Department of Pediatrics, Emory University School of Medicine, and Children's Healthcare of Atlanta, Atlanta, Georgia;

			Abstract

			OBJECTIVE:Birth defects (BDs) are an important cause of infant mortality and disproportionately occur among low birth weight infants. We determined the prevalence of BDs in a cohort of very low birth weight (VLBW) infants cared for at the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network (NRN) centers over a 10-year period and examined the relationship between anomalies, neonatal outcomes, and surgical care.METHODS:Infant and maternal data were collected prospectively for infants weighing 401 to 1500 g at NRN sites between January 1, 1998, and December 31, 2007. Poisson regression models were used to compare risk of outcomes for infants with versus without BDs while adjusting for gestational age and other characteristics.RESULTS:A BD was present in 1776 (4.8%) of the 37 262 infants in our VLBW cohort. Yearly prevalence of BDs increased from 4.0% of infants born in 1998 to 5.6% in 2007, P < .001. Mean gestational age overall was 28 weeks, and mean birth weight was 1007 g. Infants with BDs were more mature but more likely to be small for gestational age compared with infants without BDs. Chromosomal and cardiovascular anomalies were most frequent with each occurring in 20% of affected infants. Mortality was higher among infants with BDs (49% vs 18%; adjusted relative risk: 3.66 [95% confidence interval: 3.41-3.92]; P < .001) and varied by diagnosis. Among those surviving >3 days, more infants with BDs underwent major surgery (48% vs 13%, P < .001).CONCLUSIONS:Prevalence of BDs increased during the 10 years studied. BDs remain an important cause of neonatal morbidity and mortality among VLBW infants.
			KEYWORDS:
			Neonatal Research Network, birth defects, low birth weight, prematurity

			PMID 23733791

Z8600021 at 03:44, 11 Mayıs 2013

2013-05-11T03:44:54Z

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			===Pregnancy: occupational aspects of management: concise guidance===
			Clin Med. 2013 Feb;13(1):75-9.

			Palmer KT, Bonzini M, Bonde JP; Multidisciplinary Guideline Development Group; Health and Work Development Unit,; Royal College of Physicians; Faculty of Occupational Medicine.
			Collaborators (9)

			Medical Research Council Lifecourse Epidemiology Unit, University of Southampton. ktp@mrc.soton.ac.uk

			Abstract

			Most pregnant women are exposed to some physical activity at work. This Concise Guidance is aimed at doctors advising healthy women with uncomplicated singleton pregnancies about the risks arising from five common workplace exposures (prolonged working hours, shift work, lifting, standing and heavy physical workload). The adverse outcomes considered are: miscarriage, preterm delivery, small for gestational age, low birth weight, pre-eclampsia and gestational hypertension. Systematic review of the literature indicates that these exposures are unlikely to carry much of an increased risk for any of the outcomes, since small apparent effects might be explicable in terms of chance, bias, or confounding, while larger and better studies yield lower estimated risks compared with smaller and weaker studies. In general, patients can be reassured that such work is associated with little, if any, adverse effect on pregnancy. Moreover, moderate physical exercise is thought to be healthy in pregnancy and most pregnant women undertake some physical work at home. The guidelines provide risk estimates and advice on counselling.

			PMID 23472500

	==2012==		==2012==