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J Neuromuscul Dis 2022 Aug 12. Epub 2022 Aug 12.

Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.

Purpose: Chilaiditi's sign (CS), hepatodiaphragmatic interposition of the intestine, was caused by morphological abnormalities such as diaphragmatic atrophy, intestinal dilation, and liver atrophy. The sign is potentially important due to associations with clinically recurrent abdominal pain or even colonic volvulus. Late-onset Pompe disease (LOPD) could have the high prevalence of CS because of widened hepatodiaphragmatic space, following diaphragmatic atrophy, and the abnormal dilation of intestine caused by glycogen accumulation in smooth muscle of intestine. Read More

Eur J Rheumatol 2022 Aug 9. Epub 2022 Aug 9.

Department of Rheumatology, Dokuz Eylül University School of Medicine, İzmir, Turkey.

Pompe disease is a rare metabolic disorder that is characterized by the deficiency of the acid aglucosidase. As a result, glycogen accumulates in several tissues including motor neurons, skeletal, cardiac, and smooth muscles. The course of the disease varies according to the type of mutations, and the clinical phenotype can be affected by the enzyme levels. Read More

Curr Opin Neurol 2022 Aug 9. Epub 2022 Aug 9.

Nord-Est/Ile-de-France Neuromuscular Reference Center, Neurology Department, Raymond-Poincaré Hospital, Garches, and FHU PHENIX, UVSQ Paris-Saclay University, France.

Purpose Of Review: Pompe disease is caused by autosomal recessive mutations in the acid α-glucosidase gene leading to a multiorgan deficiency of the enzyme acid glucosidase alfa. To recover to a nondiseased status, a lift over a threshold of 25% acid glucosidase alfa enzyme activity is required. This update on therapeutic thoroughfares for adult Pompe disease aims to assist neuromuscular and metabolic specialists. Read More

Mol Genet Metab 2022 Jul 30;137(1-2):81-91. Epub 2022 Jul 30.

Yale School of Medicine, Department of Medicine, Department of Pediatrics, Department of Cellular & Molecular Physiology, New Haven, CT, United States of America.

J Inherit Metab Dis 2022 Aug 5. Epub 2022 Aug 5.

Office of New Drugs, Office of Biostatistics, Office of Clinical Pharmacology, Office of Pharmaceutical Quality, Office of Biotechnology Products, Office of New Drug Products, Office of Pharmaceutical Manufacturing Assessment, Center for Drug Evaluation and Research, U.S. Food and Drug Administration.