Genetic disorders

Pop Quiz: Fabry Disease in Children and Adults

Current Consultant Issue

Previous Issues

Early View

Research Summaries

research summary

Association Between Gene Mutations, Enzyme Activity in Acute Intermittent Porphyria

05/20/2024

Researchers examined the epidemiology of hydroxymethylbilane synthase (HMBS) gene defects and activity levels among patients with acute intermittent porphyria to better understand the role of HMBS activity...

05/20/2024

RESEARCH SUMMARY

Study Points to Renal Dysfunction as a Potential Risk Factor for Relapse, Biomarker in Patients With NMOSD

05/20/2024

Anthony Calabro, MA

Researchers set out to determine whether renal function could be used as both a predictor of relapse risk for patients with their first onset of aquaporin-4 (AQP4)-immunoglobulin G (IgG)-seropositive...

05/20/2024

Conference Coverage

Precision Medicine: Biomarkers & The Treatment of Depression

05/16/2024

Josh Hamilton, DNP, APRN, BC, CNE, FAANP

In this video, Josh Hamilton, DNP, APRN, BC, CNE, FAANP, details his session “Precision Medicine: Biomarkers & The Treatment of Depression” at PUPC 2024. In his session, Dr Hamilton described how clinicians...

05/16/2024

Conference Coverage

Which Spinal Fusion Approach Provides a Lower Risk of Post-Surgical Complications For Elderly Patients With Cervical Trauma?

05/16/2024

Anthony Calabro, MA

Researchers examined in-hospital complications following anterior and posterior spinal fusion surgeries in elderly patients.

05/16/2024

Conference Coverage

Conference Coverage

Wrap-Up: Perspectives on Virtual Care in Primary Care

05/16/2024

Joseph Kvedar, MD

Dr Kvedar provides a quick review of his session, "Perspectives on Virtual Care in Primary Care" at PUPC 2024. In this session, Dr Kvedar described the modalities for providing virtual care, some friction...

05/16/2024

Trending Articles

Pop Quiz

Dosing GH in Children

05/16/2024

Based on the current guidelines from the Pediatric Endocrine Society, which of the following is an accurate initial dose of growth hormone for a child?Based on the current...

05/16/2024

Expert Q&A

Expert Q&A

A 17-Fold Increase in Measles Cases Puts Elimination Status at Risk in United States

05/13/2024

Jennifer Walsh, DNP, CPNP, CNE

In 2000, measles was effectively eradicated in the United States, meaning that there were no outbreaks for a year or more. However, the recent rise in measles cases in 2024 is threatening its elimination...

05/13/2024

Legal Pearl

Legal Pearl

US Supreme Court Raises Bar for Prosecuting Physicians Who Prescribe Opioids for Pain

05/07/2024

What's Your Diagnosis?

An ovoid plaque with pustular exudate and golden-brown crust is seen on the patient’s vertex scalp.

What's Your Diagnosis?

Pustular Scab on an Elderly Woman's Head

04/30/2024

Michelle L. Gallagher, DO¹ • Casey Schukow, BS² • Meghan Grossmann, BS²

Michelle L. Gallagher, DO1 • Casey Schukow, BS2 • Meghan Grossmann, BS2

04/30/2024

pop quiz

Diagnosing Herpes Zoster

04/18/2024

Photo Essay

An Atlas of Lumps and Bumps, Part 37: Keratosis Pilaris

04/15/2024

Alexander K.C. Leung, MD^1,2, Benjamin Barankin, MD³, Joseph M. Lam, MD⁴, Kin Fon Leong, MD⁵

Alexander K.C. Leung, MD1,2, Benjamin Barankin, MD3, Joseph M. Lam, MD4, Kin Fon Leong,...

Keratosis Pilaris Keratosis pilaris, frequently referred to as “chicken skin” by patients, is a disorder of keratinization of the infundibulum of pilosebaceous follicles characterized by keratinous plugs...

04/15/2024