A case of autoimmune polyglandular syndrome type 1 with ectodermal dystrophy in her nail*
Journal Title: Journal of Health Sciences and Medicine - Year 2018, Vol 1, Issue 1
Abstract
Autoimmune polyglandular syndrome type 1 (APS-1), also called autoimmune polyendocrinopathy-candidiasisectodermal dystrophy, has three major components including mucocutaneous candidiasis, hypoparatiroidism and Addison’s disease. It is an autosomal recessive disorder. Mutations in the AIRE gene found on chromosome 21 are the cause of this disease. A 21-year-old female patient with Addison’s disease was admitted to our outpatient clinic for routine control. The patient was diagnosed with Addison’s disease at the age of six when she applied for a complaint of fatigue and hyperpigmentation. She was diagnosed with primary hypoparathyroidism after 6 months. Physical examination revealed that mucocutaneous candidiasis at her mouth and ectodermal dystrophy at her right hand second finger’s nail. The patient had no hair on the pubic or axillary region. Asplenism was detected in the abdominal ultrasound examination. In conclusion, patients with APS-1 can be presented with ectodermal dystrophy and it must be paid attention to ectodermal dystrophy during diagnostic evaluation.
Retrospective analysis of histopathological findings of benign sinonasal masses
Introduction: Nasal polyps are the most common types of benign sinonasal masses. In addition, some histopathological diagnoses like rare sinonasal papilloma, hemangioma and Respiratory Epithelial Adenomatous Hamartoma (R...
Investigation of the presence of metallo-beta-lactamase enzyme in two different phenotypic methods in carbapenem resistant Acineobacter baumannii strains isolated from clinical specimens
Aim: Acinobacter baumannii strains are nosocomial infections that can develop resistance to many antibiotic strains. One of the mechanisms of resistance of the carbapenem group to anobiotics in A.baumannii strains is the...
Preparation of clinical decision support systems related to infection control measures and evaluation of the effectiveness
Aim: Spreading rate of hospital infections is one of the most important quality indicators of health. In studies conducted by the infection control committee, communication between the laboratory, the infection control t...
Relationship between glycosylated hemoglobin and plateletcrit of type 2 diabetes patients
ABSTRACT Aim: Type 2 diabetes can cause serious vascular problems. Abnormal plateletcrit (PCT) levels were shown as a risk factor for coronary artery diseases by recent studies. Glycosylated hemoglobin (HbA1c) is a widel...
Böbrek nakli yapılan hastaların retrospektif analizi
Amaç: Böbrek nakli son dönem böbrek yetmezliği gelişmiş hastalarda en etkin tedavi yöntemidir. Bu çalışma ile merkezimiz de yapılan böbrek nakli hastalarımızı değerlendirmeyi amaçladık. Gereç ve Yöntem: Nisan 2014 ile Ni...