Normal dietary consumption and absorption of copper exceed the metabolic need, and homeostasis of this element is maintained exclusively by the biliary excretion of copper. Wilson’s disease is an inherited disorder in which defective biliary excretion of copper leads to its accumulation, particularly in liver and brain. Continue reading “Diagnostic Scoring System for Wilson’s Disease”
A cost-effective diagnostic workup of patients with possible acute viral hepatitis is the most reasonable approach. Because 75% of cases of acute viral hepatitis result from infection with either HAV or HBV, the initial laboratory investigation should include serologic tests to exclude HAV or HBV. If the results of these studies are negative, further testing should be done to rule out acute HCV infection, which is less common. Serum HCV RNA is detectable 1 to 2 weeks after the onset of infection, whereas anti-HCV can be detected 8 to 10 weeks following infection with the virus. In clinically stable patients, waiting and checking the presence of antibodies to HCV may be plausible. Checking for HCV RNA by polymerase chain reaction in all patients is not cost-effective, unless there is a known history of blood exposure. Finally, not all acute hepatitis is viral. If the initial evaluation fails to show viral hepatitis, then other causes of hepatitis, such as alcoholic hepatitis, drug toxicity, autoimmune hepatitis, or Wilson’s disease, should be considered. Continue reading “Cost-Effective Laboratory Evaluation of Acute Viral Hepatitis”
The clinical diagnosis of an epileptic seizure requires a detailed history taking and, ideally, an eyewitness account of the seizure. Evaluation with 12-lead electrocardiography is essential in a patient who has had a first seizure or an unexplained blackout spell.
Patients who have had an epileptic seizure should be informed about factors that may provoke seizures (e.g., sleep deprivation and alcohol use), the risk of a seizure occurring while driving or engaging in solitary activities, and the risks of harm from further seizures. Continue reading “Common Types of Seizures in Adolescents and Adults”
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”
Hepatic fibrosis is the most important determinant of liver and non-liver outcomes in patients with nonalcoholic fatty liver disease (NAFLD). Therefore, identifying patients with clinically significant hepatic fibrosis (fibrosis stage 2 or higher) is important for targeted efforts at preventing disease progression.
Nonalcoholic steatohepatitis (NASH), a subtype of NAFLD characterized by inflammation, ballooning, and Mallory’s hyaline on liver biopsy, can lead to hepatic fibrosis, cirrhosis, and hepatocellular cancer (HCC). Both NAFLD and NASH are also associated with an increased risk of cardiovascular disease, cardiovascular and liver-related mortality, and impaired health-related quality of life.
Continue reading “Screening for Advanced Hepatic Fibrosis Related to NAFLD/NASH”
Portal hypertension is the haemodynamic abnormality associated with the most severe complications of cirrhosis, including ascites, hepatic encephalopathy and bleeding from gastroesophageal varices. Variceal bleeding is a medical emergency associated with a mortality that, in spite of recent progress, is still in the order of 10–20% at 6 weeks. The evaluation of diagnostic tools and the design and conduct of good clinical trials for the treatment of portal hypertension have always been difficult. Continue reading “Baveno VI Criteria for Compensated Advanced Chronic Liver Disease (cACLD)”
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)”
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”
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)”
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)”
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