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http://dx.doi.org/10.23736/S0026-4725.16.04077-9 | DOI Listing |
Pediatr Neurol
August 2025
Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina. Electronic address:
Pompe disease (PD), an autosomal recessive lysosomal disorder, results in glycogen accumulation in muscle cells, leading to progressive muscle weakness and respiratory insufficiency. Newborn screening (NBS) has improved outcomes for infantile-onset PD by enabling early diagnosis and intervention with enzyme replacement therapy. NBS also identifies late-onset PD (LOPD) cases, wherein children have a wide clinical spectrum and may remain asymptomatic for years, placing families in uncertainty as "patients-in-waiting.
View Article and Find Full Text PDFBMC Public Health
September 2025
Uganda Public Health Fellowship Program, Uganda National Institute of Public Health, Kampala, Uganda.
Background: Cholera is endemic in Uganda with periodic outbreaks occurring annually. On July 24, 2023, Uganda's Ministry of Health confirmed a cholera outbreak in Sigulu Island, Namayingo District. We investigated to determine its magnitude, identify possible exposures, and recommend evidence-based control interventions.
View Article and Find Full Text PDFChin Clin Oncol
August 2025
Department of Surgery, King Fahd Hospital, Jeddah, Saudia Arabia.
Background: Adrenocortical carcinoma (ACC) is a rare and highly aggressive malignancy, ranking as the second most aggressive endocrine tumor after anaplastic thyroid cancer. ACC typically presents symptoms caused by the tumor mass and less often with signs of excess hormones. Due to its rarity, the diagnosis and management of ACC pose significant challenges, with limited clinical guidelines, a lack of large-scale randomized studies, and a paucity of treatment experience.
View Article and Find Full Text PDFActa Chir Belg
September 2025
Department of General and Endocrine Surgery, Onze-Lieve-Vrouw (OLV) Hospital Aalst-Asse-Ninove, Aalst, Belgium.
Background: Adrenal myelolipomas are benign tumors composed of mature adipose tissue and hematopoietic elements, such as myeloid and erythroid cells. They are often asymptomatic and do not require treatment unless complications arise.
Methods: A case description and brief review of the literature is performed.
Pediatr Blood Cancer
August 2025
Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Background: The somatic activating variant in BRAF (p.V600E) was recently described as a novel cause of macrocystic head and neck lymphatic malformations in three individuals. Other recent studies profiling the genetic causes of more complex lymphatic anomalies identified this same pathogenic BRAF variant.
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