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Lessons learned from 5 years of pegvaliase in US clinics: A case series.
Mol Genet Metab Rep
March 2025
Hayward Genetics Center, Dept of Pediatrics, Tulane University Medical School, New Orleans, LA, USA.
Objective: To provide insights and strategies for pegvaliase management in challenging cases with phenylketonuria (PKU) based on the first 5 years of experience with pegvaliase in real-world clinical practice.
Methods: Twelve PKU experts gathered during a one-day, in-person meeting to discuss clinical cases illustrating important lessons from their experiences treating patients with pegvaliase in real-world clinical practice. Challenges with pegvaliase experienced prior to and during treatment and corresponding strategies to overcome them were discussed.
Association of diet quality scores with risk of metabolic-associated fatty liver disease in Iranian population: a nested case-control study.
J Diabetes Metab Disord
June 2025
Gastroenterology and Liver Disease Research Center, Research Institute for Gastroenterology and Liver Disease, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background And Aim: A healthy diet has been recommended for non-alcoholic fatty liver disease (NAFLD). We aim to investigate the associations of diet quality indices with the risk of developingmetabolic-associated fatty liver disease (MAFLD).
Methods: We conducted this nested case-control study by recruiting 968 cases with MAFLD and 964 controls from the participants of the baseline phase of the Sabzevar Persian Cohort Study (SPCS).
Single-case evaluation of oral feeding intervention and gastrostomy tube fading in adults with intellectual and multiple disabilities.
J Intellect Dev Disabil
March 2024
Clinical and Professional Development, Melmark New England, Andover, MA, USA.
Background: Some adults with intellectual disabilities do not acquire oral feeding skills and are dependent on gastrostomy tube supplementation.
Methods: Two adults with intellectual and multiple disabilities received intervention for oral consumption during daily meals (standardised food and liquid quantities, individualised procedural guidelines, and consumption-contingent consequences) while the frequency and amount of gastrostomy tube feedings were gradually decreased and eliminated.
Results: Compared to baseline (pre-intervention) conditions, the adults increased oral consumption of food and liquid during the intervention and gastrostomy tube supplementation was eliminated.
Slimmer's paralysis in a physical trainer with drastic weight fluctuations.
BMJ Case Rep
January 2025
Orthopaedics, All India Institute of Medical Sciences, New Delhi, India.
Slimmer's paralysis is a peripheral mononeuropathy of the common peroneal (fibular) nerve (CPN/CFN), typically associated with rapid weight loss resulting in loss of subcutaneous fat pad and subsequent neural compression at the fibular head. Here, we describe a young man with a 1-year history of right-sided foot drop, which developed following a rapid intentional weight loss of 11 kg over a period of 15 days. This weight loss was preceded by rapid weight gain over 2 days owing to binge eating.
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