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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 PDFSemaglutide and laparoscopic sleeve gastrectomy in an adolescent with congenital adrenal hyperplasia due to 21-hydroxylase: a case report.
J Med Case Rep
January 2025
Department of Surgery, Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles and Keck School of Medicine of USC, Los Angeles, CA, USA.
Background: Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens. Lifelong glucocorticoid therapy is required, often necessitating supraphysiological doses in youth to manage androgen excess and growth acceleration. These patients experience higher obesity rates, hypertension, and glucose metabolism issues, complicating long-term health management.
View Article and Find Full Text PDFBlood-based epigenome-wide association study and prediction of alcohol consumption.
Clin Epigenetics
January 2025
Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Alcohol consumption is an important risk factor for multiple diseases. It is typically assessed via self-report, which is open to measurement error through recall bias. Instead, molecular data such as blood-based DNA methylation (DNAm) could be used to derive a more objective measure of alcohol consumption by incorporating information from cytosine-phosphate-guanine (CpG) sites known to be linked to the trait.
View Article and Find Full Text PDFA Multicenter Study on the Relationship of Tumor Lesion Location with Bilateral Parametrial Involvement and Pelvic Lymph Node Metastasis in Cervical Squamous Cell Carcinoma.
Ann Surg Oncol
January 2025
Department of Gynecologic Oncology, School of Medicine, Women's Hospital, Zhejiang University, Hangzhou, Zhejiang, China.
Background: This study aimed to explore the relationship of cervical tumor lesion location (CTLL) with bilateral parametrial involvement (PI) and pelvic lymph node metastasis (LNM).
Methods: The study retrospectively analyzed the clinicopathologic and imaging data of patients with cervical squamous cell carcinoma (SCC) retrieved from multiple centers. According to the CTLL, patients were allocated to three groups: a middle one third group, a unilaterally dominant group, and the entire-region group.
Deep learning classification of MGMT status of glioblastomas using multiparametric MRI with a novel domain knowledge augmented mask fusion approach.
Sci Rep
January 2025
Department of Electrical Electronical Engineering, Yaşar University, Bornova, İzmir, Turkey.
We aimed to build a robust classifier for the MGMT methylation status of glioblastoma in multiparametric MRI. We focused on multi-habitat deep image descriptors as our basic focus. A subset of the BRATS 2021 MGMT methylation dataset containing both MGMT class labels and segmentation masks was used.
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