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WHO Criteria for Diagnosis of Serrated Polyposis Syndrome (SPS)

Serrated polyposis syndrome (SPS) (previously hyperplastic polyposis) is defined by number and size of serrated polyps in the colon and rectum, but the definition is purely arbitrary and there is no known genotype.
SPS is associated with a high risk of colorectal cancer, not only in the affected patient, but also family members. The carcinogenesis can be rapid, with several series describing interval cancers occurring quickly. Continue reading “WHO Criteria for Diagnosis of Serrated Polyposis Syndrome (SPS)”

Rome IV Diagnostic Criteria for Belching Disorders

Gas, bloating, and belching are associated with a variety of conditions but are most commonly caused by functional gastrointestinal disorders. These disorders are characterized by disordered motility and visceral hypersensitivity that are often worsened by psychological distress. Continue reading “Rome IV Diagnostic Criteria for Belching Disorders”

Rome IV Diagnostic Criteria for Nausea and Vomiting Disorders

Nausea is a subjective symptom and can be defined as an unpleasant sensation of the imminent need to vomit, typically experienced in the epigastrium or throat. Vomiting refers to the forceful oral expulsion of gastrointestinal contents associated with contraction of the abdominal and chest wall muscles. Continue reading “Rome IV Diagnostic Criteria for Nausea and Vomiting Disorders”

PIOPED II, PISAPED and CTPA Criteria for Diagnosis of Pulmonary Embolus

Efficacy and continued technical improvements in CT pulmonary angiography (CTPA) have produced a significant rise in its use for the diagnosis of acute pulmonary embolism (PE). The growth of CTPA has produced a corresponding reduction in the utilization of pulmonary scintigraphy to the extent that some publications have suggested that lung scanning has become a second-line test. Lung ventilation/perfusion (V/Q) scintigraphy along with modified prospective investigation of pulmonary embolism diagnosis (PIOPED) interpretation criteria has been utilized to diagnose acute PE. More recently, a simplified algorithm comprising pulmonary perfusion scan along with prospective investigative study of pulmonary embolism diagnosis (PISAPED) interpretation criteria has shown a reduction of intermediate probability as one of the lung scan readings generated by the modified PIOPED criteria and has improved the sensitivity and specificity of the lung scintigraphy along with the modified PIOPED criteria to detect acute PE. Continue reading “PIOPED II, PISAPED and CTPA Criteria for Diagnosis of Pulmonary Embolus”

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”

Revised Diagnostic Criteria for Neurofibromatosis Type 1 (NF1)

Neurofibromatosis type 1, inherited in an autosomal dominant pattern, is characterized by multiple café-au-lait macules (CALMs), skinfold freckling (more correctly termed lentiginous macules since they occur in non–sun exposed areas), iris Lisch nodules, tumors of the nervous system, and other features. Continue reading “Revised Diagnostic Criteria for Neurofibromatosis Type 1 (NF1)”

Diagnostic Criteria for Chronic Neutrophilic Leukemia (CNL)

Chronic neutrophilic leukemia (CNL) is a rare, often aggressive myeloproliferative neoplasm (MPN) defined by persistent mature neutrophilic leukocytosis, bone marrow granulocyte hyperplasia, and frequent hepatosplenomegaly. The seminal discovery of oncogenic driver mutations in colony-stimulating factor 3 receptor (CSF3R) in the majority of patients with CNL in 2013 anchored a new scientific framework, deepening our understanding of its molecular pathogenesis, providing a diagnostic biomarker, and rationalizing the use of pharmacological targeting. Continue reading “Diagnostic Criteria for Chronic Neutrophilic Leukemia (CNL)”

Diagnostic Criteria for Hypersensitivity Pneumonitis

Hypersensitivity pneumonitis (HP), also called extrinsic allergic alveolitis, is a respiratory syndrome involving the lung parenchyma and specifically the alveoli, terminal bronchioli, and alveolar interstitium, due to a delayed allergic reaction. Such reaction is secondary to a repeated and prolonged inhalation of different types of organic dusts or other substances to which the patient is sensitized and hyper responsive, primarily consisting of organic dusts of animal or vegetable origin, more rarely from chemicals. Continue reading “Diagnostic Criteria for Hypersensitivity Pneumonitis”

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)”

Clinical Diagnostic Criteria of IgG4-Related Sclerosing Cholangitis (IgG4-SC)

Sclerosing cholangitis (SC) is defined as a condition with progressive stenosis and destruction of the bile ducts due to diffuse inflammation and fibrosis and currently includes three categories: primary sclerosing cholangitis (PSC), secondary cholangitis, and IgG4-related sclerosing cholangitis (IgG4-SC). SC categories share similar clinical features, such as cholestasis. Patients with SC present with cholestatic symptoms, including jaundice and pruritus, and blood tests reveal elevation of cholestatic enzymes. Continue reading “Clinical Diagnostic Criteria of IgG4-Related Sclerosing Cholangitis (IgG4-SC)”

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