Publications by authors named "A S Akalin"
Unlabelled: 3 M syndrome is a well-known autosomal recessive skeletal genetic disorder caused by biallelic pathogenic variants in the CUL7, OBSL1, and CCDC8 genes. Affected individuals exhibit profound pre- and postnatal growth retardation, distinctive facial features with normal intelligence. This study aims to provide insight into the comprehensive evaluation of clinical, laboratory, and radiological findings, expand the mutational spectrum of the disease, and establish a genotype-phenotype correlation in the present cases.
View Article and Find Full Text PDFThe clinical picture of the TCF3 deficiency may manifest differently from neutropenia to antibody production defects.
View Article and Find Full Text PDFIntroduction: Over the past two decades, there has been a dramatic increase in the use of digital technologies within healthcare and also in midwifery. However, scarce literature exist on the use of digital technologies and applications in midwifery practice particularly in the Belgian setting.
Aim: To map the use of digital technologies and applications by midwives in various settings, encompassing hospitals, primary care, and educational institutions in Belgium.
Although the overall prognosis for patients with non-small cell lung cancer (NSCLC) has improved over the past several decades, there are still survival differences that are not accurately defined by clinicopathological factors. Thus, there is an unmet clinical need to develop novel approaches to enhance prognostic accuracy for these patients. Keratin 17 (K17) is a negative prognostic biomarker in a wide range of cancer types, including pancreatic ductal adenocarcinoma, head and neck squamous cell carcinoma, and pulmonary adenocarcinoma (LUAD), but has yet to be investigated as a prognostic biomarker in primary lung squamous cell carcinoma (LSCC).
View Article and Find Full Text PDFArticle Synopsis
- - Epithelioid inflammatory myofibroblastic sarcoma is a rare tumor variant that often lacks detailed descriptions in radiology, as shown in a case involving a 14-year-old boy presenting with symptoms like fever and weight loss.
- - The tumor was discovered as an abdominal mass through contrast-enhanced CT, with initial differential diagnoses including lymphoma and sarcoma; ultimately, it was confirmed to be epithelioid inflammatory myofibroblastic sarcoma.
- - This case is significant because it showcases unique imaging characteristics not previously documented, emphasizing the need to consider rare tumors when evaluating enhancing abdominal masses in adolescents.