Two brothers with the childhood variant of type II glycogenosis (GSD-IIb) treated with nutrition and exercise therapy (NET) from a young age showed an unusually benign course. Muscle biopsy from the older brother, which showed characteristic vacuolar glycogen accumulation at age 2, had reverted to normal by age 16. A muscle biopsy from the younger brother was normal at 5 years. It is uncertain whether this anomalous evolution was spontaneous (nature) or due to the symptomatic therapy (nurture), but NET should be considered in patients with GSD-IIb until enzyme replacement or gene therapy become generally available.
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http://dx.doi.org/10.1002/mus.20473 | DOI Listing |
Sci Rep
January 2025
Department of Hospital Pathology, College of Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul, 06591, Korea.
Recently, as the number of cancer patients has increased, much research is being conducted for efficient treatment, including the use of artificial intelligence in genitourinary pathology. Recent research has focused largely on the classification of renal cell carcinoma subtypes. Nonetheless, the broader categorization of renal tissue into non-neoplastic normal tissue, benign tumor and malignant tumor remains understudied.
View Article and Find Full Text PDFCancers (Basel)
December 2024
Department of Neurosurgery, Institute of Medicine, University of Tsukuba, Tsukuba 305-8575, Japan.
Skull base tumors such as meningiomas and schwannomas are often pathologically benign. However, surgery for these tumors poses significant challenges because of their proximity to critical structures such as the brainstem, cerebral arteries, veins, and cranial nerves. These structures are compressed or encased by the tumor as they grow, increasing the risk of unintended injury to these structures, which can potentially lead to severe neurological deficits.
View Article and Find Full Text PDFActa Otolaryngol
January 2025
Department of Neurology, the First Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Background: Currently, there is a paucity of research comparing the clinical characteristics and repositioning efficacy between posterior canal-benign paroxysmal positional vertigo-canalolithiasis (PC-BPPV-ca) and posterior canal-benign paroxysmal positional vertigo-cupulolithiasis (PC-BPPV-cu).
Aims/objectives: To observe the clinical characteristics and compare the efficacy of repositioning maneuvers between PC-BPPV-ca and PC-BPPV-cu patients.
Material And Methods: Clinical information of patients was collected.
Indian J Dent Res
October 2024
Department of Oral Medicine and Radiology, Sree Balaji Dental College and Hospital, Bharath Institute of Higher Education and Research, Chennai, Tamil Nadu, India.
Osteopetrosis, also known as marble bone disease, is a genetic condition characterised by generalised sclerosis of bones. The osteoclastic cells responsible for bone resorption are defective and nonfunctional. These patients tend to have low bone quality in spite of increased bone deposition and thus experience multiple fractures during their life span.
View Article and Find Full Text PDFAnn Surg
January 2025
Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Objective: To investigate the clinicopathological features and long-term outcomes of cystic and solid pancreatic neuroendocrine tumors (PanNETs).
Summary Background Data: PanNETs uncommonly present as cystic lesions. Whether cystic PanNETs represent a distinct clinical entity compared to solid PanNETs is controversial.
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