JIMD Podcasts

Can hydrotherapy improve quality of life for people with Hunter syndrome (MPS II)? In this JIMD Reports Shortcast, Andy Oldham, specialist metabolic physiotherapist at Salford Royal Hospital, presents findings from a pilot study exploring the impact of hydrotherapy on pain, mobility and health-related quality of life. Andy discusses the potential of hydrotherapy to complement enzyme replacement therapy and address some of the everyday challenges of living with MPS II. The Impact of Hydrotherapy on Health-Related Quality of Life, Pain and Mobility in Individuals With Mucopolysaccharidosis Type II (Hunter Syndrome): A Pilot Feasibility Study Andrew Oldham, et al https://doi.org/10.1002/jmd2.70114 On behalf of the MPS Society

An initial diagnosis offered some answers for a child with developmental delay, seizures and progressive spinal curvature. But several features remained unexplained. Dr Karla Cifuentes-Uribe follows an unexpected clue from a routine blood test, revealing why a diagnosis should not always mark the end of the investigation. Read the paper: https://doi.org/10.1002/jmd2.70117

Where a reaction happens may matter as much as the reaction itself. Manon Jeandel joins James Nurse to discuss evidence that methionine synthase is active in the nucleus and interacts with MATα2 and DNMT3B. We explore the connections between one-carbon metabolism, DNA methylation and cellular compartmentalisation, and the questions these findings raise for inherited metabolic disease. Methionine Synthase Interacts With the Methionine Adenosyl-Transferase MATα2 and the DNA Methyltransferase DNMT3b in the Nucleus Manon Jeandel, et al https://doi.org/10.1002/jimd.70211

Dr Lívia Ferreira Sobrinho and Dr Ida Schwartz share new insights into GLUT1 deficiency syndrome from a Brazilian cohort of 40 patients. They explore its varied clinical presentations, 15 previously unreported SLC2A1 variants, and the implications for early diagnosis, ketogenic dietary therapy and genetic counselling for families. Glucose Transporter Deficiency Syndrome Type 1 (Glut1-DS): New Insights From a Brazilian Cohort of Patients Lívia Maria Ferreira Sobrinho, et al https://doi.org/10.1002/jmd2.70113

How do you manage gestational diabetes in a condition that predisposes to hypoglycaemia? Raashda A. Sulaiman discusses three successful pregnancies in women with fructose-1,6-bisphosphatase deficiency, exploring the balance between high and low blood glucose, the risk of lactic acidosis, and the importance of coordinated care through pregnancy, delivery and beyond. Challenges in Managing Pregnancy in Patients With Fructose 1, 6-Bisphosphatase Deficiency: A Single-Centre Experience Raashda A. Sulaiman, et al https://doi.org/10.1002/jmd2.70116