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Feature Engineering for the Prediction of Scoliosis in 5q-Spinal Muscular Atrophy.
J Cachexia Sarcopenia Muscle
February 2025
Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Center for Musculoskeletal Surgery, Berlin, Germany.
Article Synopsis
- 5q-Spinal muscular atrophy (SMA) is a rare disease that can now be treated, presenting new challenges for pediatricians as treatment decisions evolve with disease-modifying therapies.
- A data-driven machine learning approach was used to analyze a dataset of 84 SMA patients, focusing on predicting scoliosis by selecting relevant features through expert knowledge and statistical methods.
- The study identified key predictors like motor function scores, age, weight, and various medical interventions, achieving a prediction accuracy of 82% using a Random Forest Classifier.
Protective Role of Vitamin B6 Against Teratogenic Effects Induced by Lead in Chick Embryo.
Birth Defects Res
December 2024
Department of Zoology, University of Sargodha, Sargodha, Punjab, Pakistan.
Article Synopsis
- Lead exposure has increased since the industrial revolution, posing serious health risks as it serves no purpose in the human body and is still used in various industries, like battery manufacturing.* -
- This study examined the harmful effects of lead on chick embryos, noting significant growth reductions and deformities, while also assessing the potential of vitamin B6 to counteract these effects.* -
- Results showed that vitamin B6 improved embryo weight and reduced lead's negative impacts, indicating it may help protect against lead toxicity during development.*
Drug-induced liver injury related to gene therapy: A new challenge to be managed.
Liver Int
December 2024
Department of Hepato-Gastroenterology, Cliniques Universitaires Saint-Luc et Institut de Recherche Clinique (IREC), Université Catholique de Louvain, Brussels, Belgium.
Article Synopsis
- Gene therapy is being developed for various genetic disorders and has shown success, particularly through methods like adeno-associated virus vectors which are effective in delivering therapeutic genes in vivo.
- Several gene therapies have received approval for treating conditions such as haemophilia A and B, spinal muscular atrophy, and specific liver diseases, but they can lead to liver reactions that vary significantly in severity and type among patients.
- Management strategies, including the use of corticosteroids, are employed to minimize liver injury and ensure the efficacy of the gene therapy, with an emphasis on tailored approaches depending on the individual's response and underlying condition.
The Atypical Face of Neuroleptic Malignant Syndrome: A Case Report of Ileus and Absent Rigidity.
Cureus
July 2024
Internal Medicine, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.
Article Synopsis
- * Despite normal rigidity, testing revealed issues such as high blood pressure, breathing difficulties, and abnormal lab results, leading to the eventual diagnosis of NMS after ruling out other conditions.
- * The patient's treatment included hemodialysis and medications, highlighting that NMS can present atypically and the absence of rigidity does not exclude it as a diagnosis.
A case of mixed hereditary gelsolin amyloidosis and hydroxychloroquine induced myopathy.
Acta Neurol Belg
December 2024
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.
Hereditary gelsolin amyloidosis is an adult onset autosomal dominant disease with neurologic, ophthalmologic and dermatologic features that may be mistaken for Sjögren syndrome. We describe a case of a 68 year old female presenting with facial numbness and asymmetry, dry eyes, dry mouth and fatigue, originally diagnosed as Sjögren syndrome and treated with hydroxychloroquine. Due to her insidious progression of facial weakness with associated proximal muscle weakness she underwent a muscle biopsy, which demonstrated features of hydroxychloroquine induced myopathy and amyloid deposition.
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