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The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.
J Pediatr Endocrinol Metab
January 2025
Division of Pediatric Neurology, Department of Pediatrics and Child Health, Erciyes University, Faculty of Medicine, Kayseri, Türkiye.
Objectives: Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical symptoms of TD may not all be co-present. This study evaluates patients diagnosed with TD in childhood to improve the possibility of early diagnosis of asymptomatic cases by reporting our patients' clinical characteristics in order to minimize delayed diagnosis and emphasize the importance of TD, easily detected by HDL measurement.
View Article and Find Full Text PDFReevaluating Anti-Inflammatory Therapy: Targeting Senescence to Balance Anti-Cancer Efficacy and Vascular Disease.
Arterioscler Thromb Vasc Biol
January 2025
Department of Cardiology, The University of Texas MD Anderson Cancer Center, Houston. (B.C.-C., N.A.V.G., N.L.P., L.P.E., V.S.K.S., A.M.O., J.L., G.M., O.H., A.D., S.W.Y., C.A.I., K.C.O.M., S. Kotla, J.-i.A.).
Modulating immune function is a critical strategy in cancer and atherosclerosis treatments. For cancer, boosting or maintaining the immune system is crucial to prevent tumor growth. However, in vascular disease, mitigating immune responses can decrease inflammation and slow atherosclerosis progression.
View Article and Find Full Text PDFCongenital Hypogonadotropic Hypogonadism With Novel Pathogenic Variants in FGFR1 and GNRHR.
JCEM Case Rep
January 2025
Department of Endocrinology and Metabolism, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.
Congenital hypogonadotropic hypogonadism (CHH) can cause delayed secondary sexual characteristics and contribute to juvenile osteoporosis, with multiple causative genes having been reported. We treated a 27-year-old man diagnosed with central hypogonadism, presenting with delayed secondary sexual characteristics and juvenile osteoporosis, using bone resorption inhibitors and testosterone therapy. Genetic testing revealed missense variants both in the fibroblast growth factor receptor 1 () and gonadotropin-releasing hormone receptor () genes, a combination that has not been previously reported.
View Article and Find Full Text PDFChimeric anterolateral thigh-vastus lateralis free flap with propeller skin island for functional quadriceps reconstruction.
J Hand Microsurg
March 2025
Operative Research Unit of Plastic, Reconstructive and Aesthetic Surgery, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy.
Introduction: Soft-tissue sarcomas arising in the thigh may require total or subtotal compartmentectomy, with subsequent need for functional reconstruction with free functional muscle transfer (FFMT). We present our series, describing a new approach with chimeric propeller antero-lateral thigh-vastus lateralis (ALT-VL) free flap, which allows for independent muscle inset and soft tissue defect resurfacing.
Patient And Methods: A retrospective review of a prospectively maintained database was performed, analyzing all patients referred to Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy, between 2018 and 2023 for soft-tissue sarcomas of the thigh requiring wide excision and reconstruction with functional ALT-VL.
Rare case of spontaneous renal calyx rupture due to vesicoureteral junction stone in a horseshoe kidney.
Radiol Case Rep
March 2025
Urology Department CHU Ibn Sina, Mohamed V University Rabat, Morocco.
A 50-year-old patient with a prior history of chronic smoking presented to the emergency department with diffuse abdominal pain, primarily localized to the right hypochondrium and epigastric region, along with nausea, but without fever, vomiting, or urinary symptoms. Laboratory tests were largely unremarkable except for isolated hematuria and a mildly elevated CRP. Given the atypical clinical presentation, a 3-phase abdominal CT scan (without contrast, portal, and delayed phases) was conducted, revealing a horseshoe kidney with an obstructing 4 mm stone at the right ureteral meatus.
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