XXXXY syndrome in a phenotypic male infant with associated cardiac abnormalities

1971 ◽  
Vol 12 (2) ◽  
pp. 101-104 ◽  
Author(s):  
Salma Regina Assemany ◽  
Richard L. Neu ◽  
Lytt I. Gardner
Keyword(s):  
Male Infant ◽  
Cardiac Abnormalities ◽  
Phenotypic Male

Severe Antithrombin III Deficiency in an Infant Associated with Multiple Arterial and Venous Thromboses

1976 ◽  
Vol 36 (03) ◽  
pp. 495-502 ◽  
Author(s):  
Geoffrey Mendelsohn ◽  
Edward D. Gomperts ◽  
Dennis Gurwitz
Keyword(s):  
Antithrombin Iii ◽  
Adult Life ◽  
Rare Condition ◽  
Male Infant ◽  
Liver Cells ◽  
Liver Pathology ◽  
Fixed Tissue ◽  
Formalin Fixed Tissue ◽  
First Case ◽  
At Iii

SummaryInherited antithrombin III (AT-II, heparin cofactor) deficiency is a rare condition, presenting with thrombotic disease in adult life. This paper reports an 8 months old South African Black male infant with multiple large vessel venous and arterial thromboses, and E. coli septicaemia. This was associated with an extremely low plasma AT-II level. Micronodular cirrhosis and intracytoplasmic hyaline globules in the liver cells were present. These globules were eosinophilic, and PAS-positive after diastase. They measured approximately 5 μ to 30 μ in diameter, occurred singly in the liver cells and were located mainly in the periportal areas. The histological findings in the liver are similar to those observed in α1-antitrypsin (AAT) deficiency in which the intracytoplasmic globules represent accumulation of altered AAT. Immunochemical studies carried out on formalin fixed tissue failed to detect cross reaction material with anti-α1 antitrypsin or anti-AT III antiserum. This is the first case report of AT-III deficiency presenting in infancy. It is also the first case associated with distinctive liver pathology.The available data presented are insufficient to distinguish between an inborn defect and acquired causes of the severely depressed AT-III plasma level and the distinctive liver pathology.

P 916. Lissencephaly and Prolonged Survival of a Male Infant with MICPCH and a Noval Mutation in the CASK Gene, Xp11.4

2018 ◽  
Author(s):  
Maria Dehmel ◽  
Gabriele Hahn ◽  
Sebastian Brenner ◽  
Sonja Walsh ◽  
Nataliya Didonato ◽  
...  
Keyword(s):  
Male Infant ◽  
Prolonged Survival

A Case of Incontinentia Pigmenti in a Male Infant

2012 ◽  
Vol 74 (5) ◽  
pp. 497-500
Author(s):  
Tomoko SAITO ◽  
Yuko USAGAWA ◽  
Akari TASHIRO ◽  
Yusuke ONO ◽  
Junko KITAJIMA ◽  
...  
Keyword(s):  
Male Infant ◽  
Incontinentia Pigmenti

Proinflammatory cytokines and cardiac abnormalities in uncomplicated obesity: Relationship with abdominal fat deposition

2007 ◽  
Vol 17 (4) ◽  
pp. 294-302 ◽  
Author(s):  
Alexis E. Malavazos ◽  
Massimiliano M. Corsi ◽  
Federica Ermetici ◽  
Calin Coman ◽  
Francesco Sardanelli ◽  
...  
Keyword(s):  
Proinflammatory Cytokines ◽  
Abdominal Fat ◽  
Fat Deposition ◽  
Cardiac Abnormalities ◽  
Abdominal Fat Deposition

Prognostic Implications of Associated Cardiac Abnormalities Detected on Echocardiography in Patients With Moderate Aortic Stenosis

2021 ◽  
Author(s):  
Mohammed Rizwan Amanullah ◽  
Stephan Milhorini Pio ◽  
Arnold C.T. Ng ◽  
Kenny Y.K. Sin ◽  
Nina Ajmone Marsan ◽  
...  
Keyword(s):  
Aortic Stenosis ◽  
Cardiac Abnormalities ◽  
Prognostic Implications

scholarly journals Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects

Open Heart ◽  
2021 ◽  
Vol 8 (1) ◽  
pp. e001510
Author(s):  
Albert Zishen Lim ◽  
Daniel M Jones ◽  
Matthew G D Bates ◽  
Andrew M Schaefer ◽  
John O'Sullivan ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Nuclear Dna ◽  
Laboratory Data ◽  
Nuclear Genome ◽  
Nuclear Gene ◽  
Left Ventricular ◽  
Adult Patients ◽  
Limited Information ◽  
Cardiac Abnormalities ◽  
Cardiac Manifestations

ObjectiveRegular cardiac surveillance is advocated for patients with primary mitochondrial DNA disease. However, there is limited information to guide clinical practice in mitochondrial conditions caused by nuclear DNA defects. We sought to determine the frequency and spectrum of cardiac abnormalities identified in adult mitochondrial disease originated from the nuclear genome.MethodsAdult patients with a genetically confirmed mitochondrial disease were identified and followed up at the national clinical service for mitochondrial disease in Newcastle upon Tyne, UK (January 2009 to December 2018). Case notes, molecular genetics reports, laboratory data and cardiac investigations, including serial electrocardiograms and echocardiograms, were reviewed.ResultsIn this cohort-based observational study, we included 146 adult patients (92 women) (mean age 53.6±18.7 years, 95% CI 50.6 to 56.7) with a mean follow-up duration of 7.9±5.1 years (95% CI 7.0 to 8.8). Eleven different nuclear genotypes were identified: TWNK, POLG, RRM2B, OPA1, GFER, YARS2, TYMP, ETFDH, SDHA, TRIT1 and AGK. Cardiac abnormalities were detected in 14 patients (9.6%). Seven of these patients (4.8%) had early-onset cardiac manifestations: hypertrophic cardiomyopathy required cardiac transplantation (AGK; n=2/2), left ventricular (LV) hypertrophy and bifascicular heart block (GFER; n=2/3) and mild LV dysfunction (GFER; n=1/3, YARS2; n=1/2, TWNK; n=1/41). The remaining seven patients had acquired heart disease most likely related to conventional cardiovascular risk factors and presented later in life (14.6±12.8 vs 55.1±8.9 years, p<0.0001).ConclusionsOur findings demonstrate that the risk of cardiac involvement is genotype specific, suggesting that routine cardiac screening is not indicated for most adult patients with nuclear gene-related mitochondrial disease.

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