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Accelerating the diagnosis of Chinese cblC type MMA patients by multiplex PCR sequencing method.
Pediatr Res
January 2025
Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing, China.
Background: CblC type methylmalonic aciduria (cblC disease) is the most common inborn error of vitamin B12 metabolism and due to mutations in the MMACHC gene. The earlier the diagnosis, the better the prognosis. Therefore, convenient and inexpensive detection method is needed.
View Article and Find Full Text PDFSingle and multitarget stereotactic radiosurgery (SRS) with single isocenter in the treatment of multiple brain metastases (BM): institutional experience.
Clin Transl Oncol
January 2025
Department of Radiation Oncology, HM Hospitales, Madrid, Spain.
Introduction: SRS for the treatment of limited brain metastases (BM) is widely accepted, but there are still limitations in the management of numerous BM. Frameless single-isocenter multitarget SRS is a novel technique that allows for rapid treatment delivery to multiple BM. We report our preliminary clinical, dosimetric, and patient´s shifts outcomes with this technique.
View Article and Find Full Text PDFIdentifying risk factors and constructing a predictive model for heart failure combined with intracardiac thrombus in non-compaction cardiomyopathy patients.
Sci Rep
January 2025
Department of Cardiovascular Surgery, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710061, People's Republic of China.
This study aims to develop a nomogram prediction model for assessing the cardiogenic composite endpoint, which includes intracardiac thrombosis (ICT) combined with heart failure (HF) in patients with non-compaction cardiomyopathy (NCM) patients. We retrospectively analyzed clinical data from NCM patients (January 2018 to May 2024), who were randomly assigned to training and validation cohorts. Independent predictors were identified using logistic regression, and a nomogram model was developed.
View Article and Find Full Text PDFIntroduction: Dysphagia is a prevalent symptom of various neurological diseases and is associated with decreased quality of life. The M.D.
View Article and Find Full Text PDFA preventable medical error: Successful management of iatrogenic Zenker's diverticulum perforation.
Int J Surg Case Rep
January 2025
Department of Thoracic Surgery, Damascus Hospital,Damascus, Syria.
Introduction And Significance: Zenker's diverticulum is a rare condition characterized by a false diverticulum, as a true diverticulum involves herniation of all wall layers outward. Dysphagia, difficulty in swallowing, is the most common symptom. Diagnosis is primarily made through X-ray studies using contrast material during swallowing.
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