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”
The esophageal motility disorders are categorized as secondary and primary disorders. The pathogenesis of secondary motility disorders is associated with systemic diseases.
Continue reading “Characteristics of Esophageal Motility Disorders”
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)”
The majority (50 to 80%) of Zika virus (ZIKV) infections are asymptomatic. Symptomatic ZIKV infection has an incubation period of 3 to 14 days and is a mild illness, with a duration of up to 1 week, that manifests as a rash, low-grade fever, arthralgia and myalgia, and conjunctivitis. Complications are infrequent, but when they occur, they are severe and may be fatal. Continue reading “Features of Congenital Zika Syndrome”
Anaphylaxis can present with a spectrum of signs and symptoms affecting multiple organ systems, including the skin, gastrointestinal tract, cardiovascular system, nervous system, and both the upper and lower respiratory tracts; hallmarks of anaphylaxis are the development of hypotension or the involvement of more than one organ system.
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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”
The autosomal recessive inherited primary hyperoxalurias types I, II and III are caused by defects in glyoxylate metabolism that lead to the endogenous overproduction of oxalate.
Continue reading “Features and Treatment of the Inherited Primary Hyperoxalurias”
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”