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

IWOS Criteria for the Diagnosis of Ocular Sarcoidosis (OS)

Sarcoidosis is a systemic inflammatory disorder with unknown aetiology, affecting many organs including the eye and characterised by non-caseating granulomas. Continue reading

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 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

GLIM Criteria for the Diagnosis of Malnutrition

This Global Leadership Initiative on Malnutrition (GLIM) initiative targets the priority to adopt global consensus criteria so that malnutrition prevalence, interventions, and outcomes may be compared throughout the world. Continue reading

Diagnosis of Primary Hypoparathyroidism

Primary hypoparathyroidism is a condition characterized by hypocalcemia and hyperphosphatemia resulting from the primary absence or deficiency of parathyroid hormone (PTH) or from the secretion of biologically inactive PTH. Continue reading

Guidelines for Diagnosis of the Lynch Syndrome

The Lynch syndrome is the most common inherited syndrome associated with colorectal cancer, accounting for 3% of new diagnoses; it is also associated with extracolonic cancers, the most common of which is endometrial cancer.
The Lynch syndrome phenotype includes a propensity for cancers of the proximal colon, poor tumor differentiation with mucinous or signet-ring cell histologic features or a medullary growth pattern, abundant infiltrating lymphocytes in the tumor, and synchronous and metachronous colorectal cancers. Continue reading

Biochemical Markers in Testicular Cancer

Patients with testicular cancer most frequently present with a painless testicular mass. The initial work-up includes a history and physical exam, cross-sectional imaging of the retroperitoneum, chest x-ray, and serum levels of AFP, hCG, and LDH. Continue reading

Diagnosis of Diabetes Insipidus (DI)

Diabetes insipidus is a disease in which large volumes of dilute urine (polyuria) are excreted due to vasopressin (AVP) deficiency [central diabetes insipidus (CDI)], AVP resistance [nephrogenic diabetes insipidus (NDI)], or excessive water intake (primary polydipsia). Polyuria is characterized by a urine volume in excess of 2 l/m2/24 h or approximately 150 ml/kg/24 h at birth, 100–110 ml/kg/24 h until the age of 2 years and 40–50 ml/kg/24 h in the older child and adult. Continue reading

Diagnosis of Subclinical Hyperthyroidism

In overt hyperthyroidism, serum levels of free T4 and triiodothyronine (T3) or levels of T3 alone are elevated, and serum thyrotropin (TSH) levels are suppressed. In subclinical hyperthyroidism, levels of free T4 and T3 are normal, thyrotropin levels are suppressed, and thyroid hormone levels are usually in the middle to upper range of normal. Continue reading