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Neonatal Familiar Cleidocranial Dysplasia: A Case Report.
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
View Article and Find Full Text PDFAdding checkpoint inhibitors to first-line chemotherapy for NUT carcinoma patients.
NPJ Precis Oncol
January 2025
Department of Medicine III, LMU University Hospital, Munich, Germany.
Rare cancers present significant challenges in diagnosis, treatment, and research, accounting for up to 25% of global cancer cases. Due to their rarity and atypical presentations, they are often misdiagnosed, resulting in late-stage detection and poor outcomes. Here, we describe a patient case with advanced metastatic nasopharynx NUT carcinoma, one of the rarest and most aggressive cancers.
View Article and Find Full Text PDFPurpose: To evaluate the effect of osilodrostat and hypercortisolism control on blood pressure (BP) and glycemic control in patients with Cushing's disease.
Methods: Pooled analysis of two Phase III osilodrostat studies (LINC 3 and LINC 4), both comprising a 48-week core phase and an optional open-label extension. Changes from baseline in systolic and diastolic BP (SBP and DBP), fasting plasma glucose (FPG), and glycated hemoglobin (HbA) were evaluated during osilodrostat treatment in patients with/without hypertension or diabetes at baseline.
Pifithrin-μ sensitizes mTOR-activated liver cancer to sorafenib treatment.
Cell Death Dis
January 2025
Department of Organ Transplantation and Hepatobiliary Surgery, Key Laboratory of Organ Transplantation of Liaoning Province, The First Hospital of China Medical University, Shenyang, China.
TSC2, a suppressor of mTOR, is inactivated in up to 20% of HBV-associated liver cancer. This subtype of liver cancer is associated with aggressive behavior and early recurrence after hepatectomy. Being the first targeted regimen for advanced liver cancer, sorafenib has limited efficacy in HBV-positive patients.
View Article and Find Full Text PDFImaging Approach to Pulmonary Hypertension.
Radiol Clin North Am
March 2025
Department of Radiology and Biomedical Imaging, University of California San Francisco, M-391 Box 0628, 505 Parnassus Avenue, San Francisco, CA 94143, USA.
Pulmonary hypertension is a rare but important clinical problem that presents a sometimes challenging diagnostic dilemma. The diagnosis of pulmonary hypertension relies on a combination of clinical testing and radiologic imaging, with chest computed tomography (CT) often serving as the primary imaging modality for comprehensive evaluation of the chest. Chest CT can be used to evaluate for causes of pulmonary hypertension including chronic lung disease, pulmonary artery obstruction, and congenital heart disease.
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