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Respiratory insufficiency as a rare presentation in a child with vitamin D-dependent rickets type 1.
BMJ Case Rep
January 2025
Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India.
Rickets in children usually present with skeletal manifestations. However, they can also rarely present with extraskeletal manifestations, one of them being respiratory insufficiency. We present an unusual case of a girl in early childhood with respiratory insufficiency, which turned out to be due to the underlying vitamin D-dependent rickets (VDDR).
View Article and Find Full Text PDFCase report: A rare case of renal tuberculosis combined with bladder cancer.
Front Oncol
November 2024
Department of Urology, Guizhou Provincial People's Hospital, Guiyang, China.
We report a case of renal tuberculosis combined with bladder cancer. The patient was a 57-year-old man with no history of tuberculosis who presented with hematuria and signs of urinary tract irritation. Computed tomography (CT) showed florid, bowel-filling calcifications at the level of the right renal hilum, multiple hyperdense shadows from the right renal pelvis to the ureter, and left pyelo-ureteral effusion.
View Article and Find Full Text PDFClinical, histological and receptor profiles of invasive breast cancer and ductal carcinoma in situ in females with germline pathogenic variants in PTEN and implications for germline testing.
Pathology
February 2025
Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia.
Article Synopsis
- PTEN hamartoma tumour syndrome (PHTS) is a hereditary cancer syndrome mainly caused by PTEN gene variants, significantly increasing breast cancer risk for female carriers (up to 80%).
- A study tracked breast biopsies of 14 females with these gene variants over 28 years, finding high rates of breast cancer diagnoses (85.7%) with an average initial diagnosis age of 41.6.
- The research highlights that breast cancer in PHTS does not have distinctive features, emphasizing the need for healthcare professionals to familiarize themselves with these cases for better early recognition and management.
Clinical, CBCT and Histological Analysis of a Florid Cemento-Osseous Dysplasia with Co-Occurrence of Simple Bone Cyst in the Mandible: A Case Report.
J Dent (Shiraz)
September 2024
Director Research Center, Faculty of Dental Medicine, Lebanon University, Beirut, Lebanon.
Cemento-osseous dysplasia (COD) is classified, by the World Health Organization as a benign fibro-osseous lesion related to the tooth and periapical area of the jaws and is considered as a benign reactive process appearing from the apical periodontium in close relation with the apices of teeth. Usually, it is asymptomatic, discovered accidentally, and affecting particularly middle-aged African women. There are four subtypes distinguished of the lesion: periapical (PCOD), focal (FCOD), florid (FLCOD) and familial florid cemento-osseous dysplasia (FFLCOD).
View Article and Find Full Text PDFtPA supplementation preserves neurovascular and cognitive function in Tg2576 mice.
Alzheimers Dement
July 2024
Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, New York, USA.
Introduction: Amyloid beta (Aβ) impairs the cerebral blood flow (CBF) increase induced by neural activity (functional hyperemia). Tissue plasminogen activator (tPA) is required for functional hyperemia, and in mouse models of Aβ accumulation tPA deficiency contributes to neurovascular and cognitive impairment. However, it remains unknown if tPA supplementation can rescue Aβ-induced neurovascular and cognitive dysfunction.
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