scholarly journals Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation

2020 ◽  
Vol 8 (6) ◽  
Author(s):  
Bettina Härter ◽  
Francesco Benedicenti ◽  
Daniela Karall ◽  
Ekkehard Lausch ◽  
Gisela Schweigmann ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Clinical Aspects ◽  
Hyaline Fibromatosis Syndrome

scholarly journals Identification of a novel mutation in DAX1/NR0B1A gene in two siblings with severe clinical presentation of adrenal hypoplasia congenita

2009 ◽  
Vol 53 (6) ◽  
pp. 771-776 ◽  
Author(s):  
Rafael Machado Mantovani ◽  
Isabela Leite Pezzuti ◽  
Vera Maria Alves Dias ◽  
Ivani Novato Silva
Keyword(s):  
Novel Mutation ◽  
Direct Sequencing ◽  
Genetic Diagnosis ◽  
Hormonal Treatment ◽  
Clinical Aspects ◽  
Salt Wasting ◽  
Wasting Syndrome ◽  
Adrenal Hypoplasia Congenita ◽  
Molecular Etiology ◽  
Adrenal Hypoplasia

OBJECTIVE: To search for mutations in DAX1/NR0B1A gene in siblings to establish the molecular etiology of the adrenal hypoplasia congenita (AHC), a rare potentially life-threatening disorder. CASE REPORT: We describe two siblings who presented with salt-wasting syndrome in the newborn period and received hormonal replacement for primary adrenal insufficiency. A diagnostic hypothesis of AHC was suspected because the children maintained, during hormonal treatment, low plasma 17-OH progesterone (17-OHP) and androgens, despite high ACTH levels. RESULTS: DAX1 gene was studied by molecular analysis, which showed a mutation, confirming the diagnosis in the siblings and a heterozygous state in the mother. Direct sequencing of DAX1 revealed an insertion of an adenine base (c1382-1383 A ins), which lead to a pMet461Asp substitution. CONCLUSION: A novel frameshift mutation of DAX1 gene, which established the molecular etiology of the AHC in the siblings, was identified. Obtaining a precise genetic diagnosis of this adrenal disorder, which, sometimes, cannot be confirmed only by clinical aspects, may have important implications for the long-term management of the disease.

scholarly journals Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene

2017 ◽  
Vol 97 (1) ◽  
pp. 108-109 ◽  
Author(s):  
L Youssefian ◽  
H Vahidnezhad ◽  
Y Aghighi ◽  
V Ziaee ◽  
S Zeinali ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Novel Mutation ◽  
Hyaline Fibromatosis Syndrome

Clinical aspects of reactive oxygen and nitrogen species

2004 ◽  
Vol 71 ◽  
pp. 121-133 ◽  
Author(s):  
Ascan Warnholtz ◽  
Maria Wendt ◽  
Michael August ◽  
Thomas Münzel
Keyword(s):  
Oxidative Stress ◽  
Reactive Oxygen Species ◽  
Risk Factor ◽  
Endothelial Dysfunction ◽  
Vascular Tissue ◽  
Rapid Development ◽  
Reactive Oxygen ◽  
Clinical Aspects ◽  
No Production ◽  
Oxygen Species

Endothelial dysfunction in the setting of cardiovascular risk factors, such as hypercholesterolaemia, hypertension, diabetes mellitus and chronic smoking, as well as in the setting of heart failure, has been shown to be at least partly dependent on the production of reactive oxygen species in endothelial and/or smooth muscle cells and the adventitia, and the subsequent decrease in vascular bioavailability of NO. Superoxide-producing enzymes involved in increased oxidative stress within vascular tissue include NAD(P)H-oxidase, xanthine oxidase and endothelial nitric oxide synthase in an uncoupled state. Recent studies indicate that endothelial dysfunction of peripheral and coronary resistance and conductance vessels represents a strong and independent risk factor for future cardiovascular events. Ways to reduce endothelial dysfunction include risk-factor modification and treatment with substances that have been shown to reduce oxidative stress and, simultaneously, to stimulate endothelial NO production, such as inhibitors of angiotensin-converting enzyme or the statins. In contrast, in conditions where increased production of reactive oxygen species, such as superoxide, in vascular tissue is established, treatment with NO, e.g. via administration of nitroglycerin, results in a rapid development of endothelial dysfunction, which may worsen the prognosis in patients with established coronary artery disease.

Clinical Aspects of the Hepatic Circulation

1965 ◽  
Vol 48 (6) ◽  
pp. 790-804 ◽  
Author(s):  
Carroll M. Leevy
Keyword(s):  
Clinical Aspects ◽  
Hepatic Circulation

Noninvasive Assessment of Coronary Artery Disease – Anatomical versus Functional Imaging and the Marginal Role of Exercise Electrocardiograms

Praxis ◽  
2020 ◽  
Vol 109 (14) ◽  
pp. 1141-1149
Author(s):  
Martina Boscolo Berto ◽  
Dominik C. Benz ◽  
Christoph Gräni
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Functional Imaging ◽  
Clinical Aspects ◽  
Industrialized Countries ◽  
Coronary Syndromes ◽  
Pros And Cons ◽  
Noninvasive Assessment ◽  
Artery Disease ◽  
European Society Of Cardiology

Abstract. Coronary artery disease (CAD) is the leading cause of morbidity and mortality in the industrialized countries. Assessment of symptomatic patients with suspected obstructive CAD is a common reason for a clinical visit. Noninvasive anatomical and functional imaging are established tools to rule-in and rule-out CAD, to assess the severity of disease and to determine the potential risk of future cardiovascular events. In this review, we discuss the updated Guidelines from the European Society of Cardiology on Chronic Coronary Syndromes and explore the different imaging modalities used in current clinical practice for the noninvasive assessment of CAD. The pros and cons of each method, especially comparing anatomical and functional testing, are presented. Furthermore we we address the practical clinical aspects in the selection of the optimal noninvasive tests according to clinical need.

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