scholarly journals What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs

2020 ◽  
Vol 46 (1) ◽  
Author(s):  
Silvia Amodeo ◽  
Giuseppe Vitrano ◽  
Melania Guardino ◽  
Giuseppe Paci ◽  
Fulvio Corselli ◽  
...  
Keyword(s):  
Case Report ◽  
Heart Defects ◽  
Conotruncal Heart Defects ◽  
Defects Analysis ◽  
The Impact

scholarly journals Maternal Obesity and Tobacco Use Modify the Impact of Genetic Variants on the Occurrence of Conotruncal Heart Defects

PLoS ONE ◽  
2014 ◽  
Vol 9 (10) ◽  
pp. e108903 ◽  
Author(s):  
Xinyu Tang ◽  
Todd G. Nick ◽  
Mario A. Cleves ◽  
Stephen W. Erickson ◽  
Ming Li ◽  
...  
Keyword(s):  
Tobacco Use ◽  
Genetic Variants ◽  
Maternal Obesity ◽  
Heart Defects ◽  
Conotruncal Heart Defects ◽  
The Impact

scholarly journals The impact of mental health on COVID 19 disease progression: Case report

2021 ◽  
pp. 102543
Author(s):  
Amine Bouabdallaoui ◽  
Salma Taouihar ◽  
Ghizlane El Aidouni ◽  
Mohamed Aabdi ◽  
Rajae Alkouh ◽  
...  
Keyword(s):  
Mental Health ◽  
Case Report ◽  
Disease Progression ◽  
The Impact

scholarly journals One-carbon metabolite levels in mid-pregnancy and risks of conotruncal heart defects

2014 ◽  
Vol 100 (2) ◽  
pp. 107-115 ◽  
Author(s):  
Gary M. Shaw ◽  
Wei Yang ◽  
Suzan L. Carmichael ◽  
Stein Emil Vollset ◽  
Charlotte A. Hobbs ◽  
...  
Keyword(s):  
Heart Defects ◽  
Conotruncal Heart Defects

scholarly journals Diffuse large B-cell lymphoma mimicking chronic osteomyelitis of the ankle joint: A case report

2021 ◽  
Vol 9 ◽  
pp. 2050313X2098733
Author(s):  
Emam M Kheder ◽  
Hussain H Sharahlii ◽  
Saad M AlSubaie ◽  
Mushref A Algarni ◽  
Hussain Al Omar
Keyword(s):  
Case Report ◽  
B Cell ◽  
Ankle Joint ◽  
Chronic Osteomyelitis ◽  
Cell Lymphoma ◽  
B Cell Lymphoma ◽  
Chronic Infections ◽  
Large B Cell Lymphoma ◽  
The Impact ◽  
Large B Cell

Lymphoma is the seventh most common type of malignancy in both males and females. It may develop in any location where lymphomatous tissue exists. Although extranodal presentation in the lower limb and pelvis are uncommon, it could present with diverse manifestations. We report an unusual case of primary extranodal large B-cell lymphoma of the ankle joint initially presumed to be a chronic osteomyelitis. This case report discusses the impact of imaging studies on decision-making and highlights the need to consider malignancy in chronic infections.

Conotruncal heart defects and chromosome 22q11microdeletion

1997 ◽  
Vol 130 (4) ◽  
pp. 675-676 ◽  
Author(s):  
M.Cristina Digilio ◽  
Bruno Marino ◽  
Aldo Giannotti ◽  
Giuseppe Novelli ◽  
Bruno Dallapiccola
Keyword(s):  
Heart Defects ◽  
Conotruncal Heart Defects

scholarly journals Cardiofaciocutaneus syndrome: literature review and case report

2019 ◽  
Vol 8 (4) ◽  
pp. 49-53
Author(s):  
V. V. Umnov ◽  
N. V. Nikitina ◽  
A. M. Khodorovskaya ◽  
O. V. Barlova
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Literature Review ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Mapk Pathway ◽  
Heart Defects ◽  
Multiple Congenital Anomalies ◽  
Cardiofaciocutaneous Syndrome

The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.

scholarly journals Gene-Gene Interactions in the Folate Metabolic Pathway and the Risk of Conotruncal Heart Defects

2010 ◽  
Vol 2010 ◽  
pp. 1-7 ◽  
Author(s):  
Philip J. Lupo ◽  
Elizabeth Goldmuntz ◽  
Laura E. Mitchell
Keyword(s):  
Risk Factors ◽  
Metabolic Pathway ◽  
Heart Defects ◽  
Independent Study ◽  
Gene Interactions ◽  
Genotype Combination ◽  
Conotruncal Heart Defects ◽  
Metabolic Genes ◽  
Functional Variants ◽  
Maternal Gene

Conotruncal and related heart defects (CTRD) are common, complex malformations. Although there are few established risk factors, there is evidence that genetic variation in the folate metabolic pathway influences CTRD risk. This study was undertaken to assess the association between inherited (i.e., case) and maternal gene-gene interactions in this pathway and the risk of CTRD. Case-parent triads (n=727), ascertained from the Children's Hospital of Philadelphia, were genotyped for ten functional variants of nine folate metabolic genes. Analyses of inherited genotypes were consistent with the previously reported association betweenMTHFRA1298C and CTRD (adjustedP=.02), but provided no evidence that CTRD was associated with inherited gene-gene interactions. Analyses of the maternal genotypes provided evidence of aMTHFRC677T/CBS844ins68 interaction and CTRD risk (unadjustedP=.02). This association is consistent with the effects of this genotype combination on folate-homocysteine biochemistry but remains to be confirmed in independent study populations.

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