Maturity-onset diabetes of the young (MODY) is an autosomal dominantly inherited type of diabetes that results from heterozygous mutations in various transcription factors acting in the development and maturation of pancreatic β-cells. In addition, mutations in enzymes involved in glucose sensing of the β-cell have also been shown to result in early-onset diabetes. Characteristic features of MODY are autosomal inheritance, early onset of diabetes (with diagnosis generally before the age of 25 years), no signs related to the autoimmune process or insulin resistance, and preservation of endogenous insulin secretion. Continue reading “MODY subtypes: gene mutations, pathophysiology, and clinical characteristics”
Evaluation and management of Covid-19 depend on the severity of the disease. Patients with mild disease usually recover at home, whereas patients with moderate disease should be monitored closely and sometimes hospitalized.
Continue reading “Characteristics and Management of Covid-19 According to Disease Severity”
During the initial phase of the Covid-19 outbreak, the diagnosis of the disease was complicated by the diversity in symptoms and imaging findings and in the severity of disease at the time of presentation. Continue reading “Clinical Characteristics of Coronavirus Disease (Covid-19)”
Cryoglobulinemia is usually classified into three subgroups according to Ig composition: type I cryoglobulinemia is composed of only one isotype or subclass of immunoglobulin. Both type II and type III mixed cryoglobulins are immune complexes composed of polyclonal IgGs, the autoantigens, and mono- or polyclonal IgMs, respectively; the IgMs are the corresponding autoantibodies with rheumatoid factor (RF) activity.
Continue reading “Classification and Clinico-Pathological Characteristics of Different Cryoglobulinemias”
Bartter’s syndrome is a rare disease that most often presents in the neonatal period or early childhood with polyuria, polydipsia, salt craving, and growth retardation. Blood pressure is normal or low. Metabolic abnormalities include hypokalemia, hypochloremic metabolic alkalosis, decreased urinary concentrating and diluting ability, hypercalciuria with nephrocalcinosis, mild hypomagnesemia, and increased urinary prostaglandin excretion.
Continue reading “Definition and Characteristics of Bartter’s Syndrome”
- Diagnosis of sarcoidosis is firm when chest radiographic evidence is accompanied by compatible clinical features and noncaseating granulomas on biopsy, with all other causes of granulomas ruled out.
- Biopsy is indicated for all patients presumed to have sarcoidosis, except those with Löfgren’s syndrome.
Continue reading “Diagnosis, Clinical Characteristics, and Treatment of Sarcoidosis”