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New Diagnostic Criteria for Arrhythmogenic Cardiomyopathy

These new insights into the heterogeneous genetic mutations and phenotypic manifestations of ACM led to a critical revision of the 2010 ITF criteria, which exclusively targeted RV classical forms and did not include the tissue characterization by contrast enhanced cardiac magnetic resonance (CMR) imaging. Accordingly, an International Expert consensus document has been recently developed to provide upgraded criteria (“the Padua Criteria”) for the diagnosis of the whole spectrum of ACM phenotypes. Continue reading “New Diagnostic Criteria for Arrhythmogenic Cardiomyopathy”

Revised Diagnostic Criteria for Paraneoplastic Pemphigus (PNP)

Paraneoplastic pemphigus (PNP) is a rare and life-threatening autoimmune bullous disease that classically occurs in the setting of an underlying neoplasm. PNP is also known as paraneoplastic autoimmune multiorgan syndrome (PAMS) because of its varied mucocutaneous and systemic deleterious effects. Due to the variable disease characteristics and lack of formally accepted diagnostic criteria, PNP remains a diagnostic challenge for clinicians. Continue reading “Revised Diagnostic Criteria for Paraneoplastic Pemphigus (PNP)”

Clinical Aspects of the Diagnosis of Epileptic Seizures

The clinician must investigate and corroborate key features of the history that help to better characterize seizures while distinguishing epileptic seizures from nonepileptic events. The most common nonepileptic paroxysmal events during childhood and adolescence are syncope, psychogenic nonepileptic events (PNES), pallid and cyanotic breath holding spells, reflux/Sandifer syndrome, self-gratification disorders, and paroxysmal nonepileptic motor disorders of sleep among others. Continue reading “Clinical Aspects of the Diagnosis of Epileptic Seizures”

Revised Physical Diagnostic Criteria for Osteosarcopenic Obesity (OSO)

Osteosarcopenic obesity (OSO) syndrome describes the simultaneous deterioration of bone, muscle and excess fat, resulting in reduced functionality and systemic metabolic dysregulation. The key component contributing to this may be ectopic fat in the viscera, bone and muscle. Continue reading “Revised Physical Diagnostic Criteria for Osteosarcopenic Obesity (OSO)”

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)”

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