100 cases of GSD were traced in the GFR. The overall incidence is 1:113000 in proportion to live births. Type I occurs most frequently with 30%, followed by Type II and Type VI with 20% each. Type III is extremely rate in the GFR. 5 cases were classified as glycogenosis with the Fanconi syndrome. With the exception of Type III the type distribution in the GFR was similar to that found in 316 cases in a diagnostic center in Belgium.
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http://dx.doi.org/10.1007/BF00445157 | DOI Listing |
Hemasphere
January 2025
Department of Internal Medicine, Hematology and Oncology, and Institute of Medical Genetics and Genomics, University Hospital Brno and Medical Faculty Masaryk University Brno Czech Republic.
In chronic lymphocytic leukemia, the reliability of next-generation sequencing (NGS) to detect variants ≤10% allelic frequency (low-VAF) is debated. We tested the ability to detect 23 such variants in 41 different laboratories using their NGS method of choice. The sensitivity was 85.
View Article and Find Full Text PDFFront Pediatr
January 2025
Department of Anesthesiology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Object: This study aims to analyze the clinical characteristics of children with tracheobronchial foreign body and to investigate the factors influencing the surgical duration of rigid bronchoscopic foreign body removal under general anesthesia.
Methods: We retrospectively identified 421 children diagnosed with tracheobronchial foreign body undergoing rigid bronchoscopy between January 2020 and December 2021. A comprehensive analysis was conducted on patient demographics, including age, weight, gender, American Society of Anesthesiologists (ASA) physical status classification, foreign body type and location, duration of foreign body retention, preoperative symptoms, signs, imaging findings, tracheobronchial manifestations observed during bronchoscopy, and surgical durations.
Severe aortic valve stenosis poses a significant risk for the aging population, often escalating from mild symptoms to life-threatening heart failure and sudden death. Without timely intervention, this condition can lead to disastrous outcomes. The advent of transcatheter aortic valve implantation (TAVI) has gained popularity, emerging as an effective alternative for managing severe aortic stenosis (AS) in high-risk patients experiencing deterioration of previously implanted bioprosthetic surgical aortic valves (SAV), which introduces complex challenges such as device compatibility and anatomical considerations.
View Article and Find Full Text PDFWorld J Gastroenterol
January 2025
Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou 510080, Guangdong Province, China.
Background: Type II diabetes mellitus (T2DM) has been associated with increased risk of colon cancer (CC) and worse prognosis in patients with metastases. The effects of T2DM on postoperative chemoresistance rate (CRR) and long-term disease-free survival (DFS) and overall survival (OS) in patients with stage III CC who receive curative resection remain controversial.
Aim: To investigate whether T2DM or glycemic control is associated with worse postoperative survival outcomes in stage III CC.
Front Neurol
January 2025
Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Background: The combined index (HALP) of hemoglobin, albumin, lymphocytes, and platelets is considered a novel scoring system that reflects systemic inflammation and nutritional status. This study aimed to investigate the relationship between HALP scores and poor outcomes in acute ischemic stroke (AIS) patients with type 2 diabetes mellitus (DM).
Methods: Patients with AIS and type 2 DM were screened from the Third China National Stroke Registry (CNSR-III) and divided into quartiles based on their HALP scores at admission.
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