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Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Orphanet J Rare Dis
January 2025
Ophthalmology Department, Centro Hospitalar e Universitário de Coimbra (CHUC), Hospitais da Universidade de Coimbra (HUC), ULS Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.
Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.
View Article and Find Full Text PDFCharacterization of the immune cell profile in metastatic nasopharyngeal carcinoma treated with chemotherapy and immune checkpoint inhibitors.
Am J Cancer Res
December 2024
Division of Hematology-Oncology, Department of Internal Medicine, Chang Gung Memorial Hospital, Linkou, Chang Gung University Taoyuan 33305, Taiwan.
Nasopharyngeal carcinoma (NPC) is an Epstein-Barr virus (EBV)-associated cancer, and immune checkpoint inhibitors (ICIs) have shown efficacy in its treatment. The combination of chemotherapy and ICIs represents a new trend in the standard care for metastatic NPC. In this study, we aim to clarify the immune cell profile and related prognostic factors in the ICI-based treatment of metastatic NPC.
View Article and Find Full Text PDFPrediction of axillary lymph node metastasis in breast cancer using an ultrasonic feature- and clinical data-based model.
Am J Cancer Res
December 2024
Department of General Surgery, Liaoning University of Traditional Chinese Medicine Affiliated Hospital Shenyang 110032, Liaoning, China.
The involvement of axillary lymph nodes (ALNs) is a critical prognostic factor affecting patient management and outcomes in breast cancer (BC). This study aims to comprehensively analyze the clinical data of BC patients, evaluate ultrasonic signs of ALNs, and explore the implications of a prediction model for ALN metastasis (ALNM) in early-stage BC patients based on ultrasonic features and clinical data. This study retrospectively analyzed ultrasonic features and clinical data from 216 patients diagnosed with unilateral invasive BC.
View Article and Find Full Text PDFRed Cell Distribution Width at Diagnosis Reflects Advanced Disease While Dynamic Changes Predict Survival at Relapse in Multiple Myeloma: A Retrospective Study.
Cureus
December 2024
Department of Internal Medicine, Bursa Uludag University, Bursa, TUR.
Introduction Multiple myeloma (MM) is a complex plasma cell malignancy characterized by clonal proliferation and monoclonal immunoglobulin production. Despite the availability of several prognostic markers for MM, many are challenging to implement routine clinical practice due to cost, complexity, or lack of standardization. Red cell distribution width (RDW), a cost-effective and routinely measured parameter in complete blood counts, has gained increasing attention as a prognostic marker due to its association with disease severity and outcomes in MM.
View Article and Find Full Text PDFUnveiling the Prognostic Power of HRR in ICU-Admitted COPD Patients: A MIMIC-IV Database Study.
Int J Chron Obstruct Pulmon Dis
January 2025
Department of Respiratory and Critical Care Medicine, The Second People's Hospital of Meishan City, Meishan, Sichuan, 620500, People's Republic of China.
Objective: This study sought to examine the potential relationship between Hemoglobin/Red Cell Distribution Width Ratio (HRR) and the all-cause mortality risk in critically ill patients with chronic obstructive pulmonary disease (COPD).
Patients And Methods: In a retrospective analysis of the MIMIC-IV database, patients were divided into two groups based on a specific HRR threshold. Propensity score matching (PSM) was employed to address covariate imbalances.
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