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A recurrent variant c.5126C>T in a Han-Chinese family with tuberous sclerosis complex.
Pak J Med Sci
January 2025
Lamei Yuan, MD, PhD, Health Management Center, the Third Xiangya Hospital, Disease Genome Research Center, Center for Experimental Medicine, the Third Xiangya Hospital, Research Center of Medical Experimental Technology, the Third Xiangya Hospital, Xiangya School of Medicine, Central South University, Changsha 410013, Hunan, China.
Objective: To identify the disease-causing variant in a family with tuberous sclerosis complex (TSC).
Methods: This study including a Han-Chinese pedigree recruited from the Third Xiangya Hospital, Central South University, Changsha, Hunan, China was conducted between February, 2019 and January, 2023. Detailed clinical examinations were performed on the proband and other family members of a Han-Chinese family with TSC.
Emergence of Extended spectrum β-lactamase (ESBL) and carbapenemase producing in mid-stream urine cultures of patients presenting in outpatient department of tertiary care hospital with uncomplicated cystitis (2016-2022): A retrospective analysis of Laboratory data.
Pak J Med Sci
January 2025
Ikram Din Ujjan, PhD Department of Pathology, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.
Objective: To determine the prevalence of antimicrobial resistance (AMR) in isolated from urine cultures of patients with uncomplicated cystitis in Pakistan. Another objective was to analyze and compare the resistance rates of to specific antibiotics, conducting a year-by-year evaluation of these rates to identify trends and changes over the past seven years.
Methods: Retrospective analysis of susceptibility data of isolated from midstream urine culture samples of patients presenting in outpatient department with uncomplicated cystitis, from January 2016 to December 2022 in the section of Microbiology, Liaquat University of Medical and Health Sciences was done.
Survival after venoarterial extracorporeal membrane oxygenation for acute high-risk Pulmonary Embolism: A meta-analysis of comparative studies.
Pak J Med Sci
January 2025
Hongyan Zhu, Hospital Infection Management Division, Shaoxing People's Hospital, Shaoxing, Zhejiang Province312000, P.R. China.
Objective: The survival benefit of venoarterial Extracorporeal Membrane Oxygenation (ECMO) for the management of acute high-risk pulmonary embolism (PE) remains unclear. This meta-analysis combines data from comparative studies to assess the risk of mortality after ECMO vs standard care in the management of acute high-risk PE.
Methods: Databases of PubMed, CENTRAL, Scopus, Web of Science, and Embase were searched from 01 January 2000 to 24 March 2023 for comparative studies with at least 10 patients/group comparing ECMO vs standard treatment.
Randomized controlled trial on the treatment of Hypoferritinemia without Anemia: Comparing oral and intravenous iron supplementation among reproductive age women in Pakistan.
Pak J Med Sci
January 2025
Dr. Rubeena Zakar, MBBS, PhD Public Health, Department of Public Health, Institute of Social and Cultural Studies, University of Punjab, Lahore, Pakistan.
Background & Objectives: Hypoferritinemia without anemia (HWA) is an under-recognized public health concern. Early identification and targeted treatment of HWA can prevent unnecessary medication use and potential drug abuse. This study aims to establish clearer guidelines for recognizing and managing HWA, improving patient's outcome.
View Article and Find Full Text PDFEffectiveness of three machine learning models for prediction of daily streamflow and uncertainty assessment.
Water Res X
May 2025
Institute for Artificial Intelligence R&D of Serbia, Fruškogorska 1, Novi Sad 21000, Serbia.
This study evaluates three Machine Learning (ML) models-Temporal Kolmogorov-Arnold Networks (TKAN), Long Short-Term Memory (LSTM), and Temporal Convolutional Networks (TCN)-focusing on their capabilities to improve prediction accuracy and efficiency in streamflow forecasting. We adopt a data-centric approach, utilizing large, validated datasets to train the models, and apply SHapley Additive exPlanations (SHAP) to enhance the interpretability and reliability of the ML models. The results show that TKAN outperforms LSTM but slightly lags behind TCN in streamflow forecasting.
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