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http://dx.doi.org/10.7860/JCDR/2015/13276.5791 | DOI Listing |
Head Neck Pathol
January 2025
Department of medical oncology, Habib Bourguiba Hospital, University of Sfax, Sfax, 3029, Tunisia.
Leiomyosarcoma (LMS) is a malignant mesenchymal neoplasm showing smooth muscle differentiation. Primary LMS of the thyroid gland is quite rare, accounting for only 0.014% of cases.
View Article and Find Full Text PDFAlpelisib is a phosphatidylinositol 3-kinase inhibitor approved by the US Food and Drug Administration for the treatment of hormone receptor-positive metastatic breast cancer with (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit α) mutation. In recent years a number of adverse effects have been observed to be associated with this therapy, the most notable of which is hyperglycemia. A literature search was conducted to include case studies, case series, systematic reviews, and meta-analyses within the last 10 years that evaluated patients with mutated hormone receptor-positive, human epidermal growth factor receptor 2 negative metastatic breast cancer.
View Article and Find Full Text PDFCardiol Young
January 2025
Royal Belfast Hospital for Sick Children, Belfast, UK.
Biallelic pathogenic variants in the inorganic pyrophosphatase 2 (PPA2) gene are a rare but established cause of sudden infant death, which may be precipitated by a pyrexial or viral illness. It has also been associated with sudden death secondary to alcohol ingestion in young adults. We describe the case of a thirteen-month-old female who presented following out-of- hospital cardiac arrest and was subsequently diagnosed with compound, heterozygous pathogenic variants of PPA2.
View Article and Find Full Text PDFCase Rep Dermatol Med
January 2025
Department of Dentistry and Oral Health, Amana Regional Referral Hospital, Ministry of Health, Dar es Salaam, Tanzania.
Harlequin ichthyosis is a rare autosomal recessive genetic disorder resulting from mutations in the gene. It is marked by distinctive skin abnormalities, including armor-like thickened scales separated by deep fissures. This condition is infrequently reported in the African population.
View Article and Find Full Text PDFFront Med (Lausanne)
January 2025
Department of Gastroenterology, West China Hospital, Sichuan University, Chengdu, China.
An 83-year-old male presented to our Digestive System Department with a 5-day history of severe gastrointestinal (GI) bleeding and a 14-year history of idiopathic thrombocytopenic purpura (ITP) with low platelet levels. Colonoscopy revealed extensive telangiectasias throughout the colon, particularly in the transverse and ascending segments. Standard treatment with proton-pump inhibitors and somatostatin proved ineffective.
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