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Diagnosis of Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia (CAH) is a disease of multiple hormonal imbalances. Mutations in CYP21A2 (the gene encoding 21-hydroxylase, a cytochrome P-450 enzyme) result in lack of 21-hydroxylase, which is required for the production of cortisol and aldosterone in the adrenal cortex. A deficiency of this enzyme has cascading effects. Reduced cortisol leads to overproduction of pituitary corticotropin, which stimulates the accumulation of cortisol precursors and their subsequent diversion through the steroid pathways that produce adrenal androgens. Today, the classic form is the most common cause of atypical genitalia in 46,XX newborns and of primary adrenal insufficiency during childhood. Continue reading “Diagnosis of Congenital Adrenal Hyperplasia”

ACR Revised Criteria for Early Diagnosis of Knee Osteoarthritis (OA)

Osteoarthritis (OA) is cartilage failure resulting in joint pain and loss of joint functions. Knee OA is the OA of knee that mechanical forces have major effect on initiation and progression of it. Knee OA is the most common disease of knee especially in the middle to old ages. The most common findings in the history and physical examination of the patients with knee OA are mechanical knee pain, gelling knee pain, crepitus on knee motion, bony tenderness and bony enlargement in the joint line. During the flare up of Osteoarthritis, knee can show swelling due to joint effusion called “Hydrarthrosis” that is a mechanical type of synovial fluid. Continue reading “ACR Revised Criteria for Early Diagnosis of Knee Osteoarthritis (OA)”

Diagnosis of Metabolic Dysfunction-Associated Fatty Liver Disease (MAFLD)

Metabolic dysfunction-associated fatty liver disease (MAFLD) is a new concept proposed in 2020. Unlike non-alcoholic fatter liver disease (NAFLD), the diagnosis of MAFLD requires the presence any of the following 3 metabolic risks, including overweight/obesity, presence of diabetes mellitus, and evidence of metabolic dysregulation. Continue reading “Diagnosis of Metabolic Dysfunction-Associated Fatty Liver Disease (MAFLD)”

Diagnosis of Hereditary Angioedema (HAE)

Angioedema, also known as Quincke edema or “angioneurotic edema”, is defined as the localized nonpitting edema of deep dermal, subcutaneous, or submucosal tissues resulting from the increase in vascular permeability and extravasation of intravascular fluids; although it can coincide with urticaria in a histamine-mediated process, a differentiating feature is that urticarial wheals are limited to the mid and papillary dermis. Continue reading “Diagnosis of Hereditary Angioedema (HAE)”

Criteria for the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy that predominantly affects the right ventricle. With a prevalence in the range of 1:5000 to 1:2000 persons, ARVC is one of the leading causes of sudden cardiac death in young people and in athletes. Continue reading “Criteria for the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)”

Diagnosis of Inhalation Injury

Inhalation injury can feature supraglottic thermal injury, chemical irritation of the respiratory tract, systemic toxicity due to agents such as carbon monoxide (CO) and cyanide, or a combination of these insults. The resultant inflammatory response may cause higher fluid resuscitation volumes, progressive pulmonary dysfunction, prolonged ventilator days, increased risk of pneumonia, and acute respiratory distress syndrome (ARDS). Continue reading “Diagnosis of Inhalation Injury”

Diagnosis and Severity Criteria for Sinusoidal Obstruction Syndrome/Veno-Occlusive Disease in Children

Hepatic sinusoidal obstruction syndrome/veno-occlusive disease (SOS/VOD) is a life-threatening complication of hematopoietic cell transplantation (HCT) that belongs to a group of diseases increasingly identified as transplant-related, systemic endothelial diseases. In most cases, SOS/VOD resolves within weeks; however, severe SOS/VOD results in multi-organ dysfunction/failure with a mortality rate >80%. Continue reading “Diagnosis and Severity Criteria for Sinusoidal Obstruction Syndrome/Veno-Occlusive Disease in Children”

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