A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.

Background: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalographic background. AS is caused by absent expression of the paternally imprinted gene UBE3A in the central nervous system. Disparities in the management of AS are a major problem in preparing for precision therapies and occur even in patients with access to experts and recognized clinics.

Deployment of an Interventional Radiology Telemedicine Program During the COVID-19 Pandemic: Initial Experience With 10,056 Visits.

Objective: To evaluate the clinical, operational, and financial effects of using telemedicine services in an academic interventional radiology setting during the coronavirus disease 2019 pandemic and to identify potential barriers to equitable telemedicine access for patients.

Methods: Evaluation and management (E&M) data over a 104-week period from September 2019 to August 2021 were reviewed. Data related to the visits were recorded including visit type, billing provider, patient demographic information, Current Procedural Terminology code charged, and reimbursement received.

Simultaneous detection of hepatitis C virus (HCV) core antigen and anti-HCV antibodies improves the early detection of HCV infection.

To evaluate whether a new enzyme immunoassay developed for the simultaneous detection of hepatitis C virus (HCV) core antigen (Ag) and anti-HCV antibodies (anti-HCV Ab) (Monolisa HCV Ag/Ab ULTRA; Bio-Rad) could improve the early detection of HCV infection, we compared its sensitivity to that of anti-HCV, HCV core Ag, and HCV RNA assays. The populations studied included 12 blood donor samples positive for HCV RNA and HCV core Ag but negative for anti-HCV antibodies and 23 hemodialysis patients who developed anti-HCV Ab (seroconversion) during the follow-up. From these 23 individuals, 83 samples sequentially collected prior to seroconversion and 108 samples collected after seroconversion were tested.

Control of blood pressure and other cardiovascular risk factors at different practice settings: outcomes of care provided to diabetic women compared to men.

Cardiovascular disease (CVD) is the major cause of morbidity and mortality in diabetes. To determine the proportion of patients who met the American Diabetes Association guidelines for control of CVD risk factors and to assess the achievement of these guidelines in women compared with men, we conducted a cross-sectional study of 3678 diabetic cohorts followed at seven medical centers, two Veteran Administration hospitals, three urban clinics, and two suburban clinics. Overall, 28% met the target blood pressure of <130/80 mm Hg, 48.

Follicular thyroid cancer presenting as a sellar mass: case report and review of the literature.

Objective: To describe an uncommon initial manifestation of well-differentiated follicular carcinoma of the thyroid in an unusual metastatic site.

Methods: We present clinical, laboratory, and imaging findings in our patient and review related data from the literature.

Results: A young healthy woman presented with headache and diplopia.

A new HCV core antigen assay based on disassociation of immune complexes: an alternative to molecular biology in the diagnosis of early HCV infection.

Background: An EIA based on immune complex disassociation of nucleocapsid proteins of HCV has been developed to detect and quantify HCV core antigen.

Study Design And Methods: To evaluate whether this new assay (trak-C, Ortho Clinical Diagnostics) could be an alternative to NAT during the window period, its sensitivity in this context was assessed, and its performance was compared with that of a first-generation HCV core antigen assay dedicated to the blood screening (HCV core antigen ELISA). Studied populations included nine HCV RNA-positive, HCV antibody-negative blood donors and 23 hemodialysis patients who underwent an HCV seroconversion.

Outbreak of hepatitis C virus infection in a hemodialysis unit: potential transmission by the hemodialysis machine?

Objective: To identify the routes of transmission during an outbreak of infection with hepatitis C virus (HCV) genotype 2a/2c in a hemodialysis unit.

Design: A matched case-control study was conducted to identify risk factors for HCV seroconversion. Direct observation and staff interviews were conducted to assess infection control practices.