Unlabelled: Sydenham's chorea is a cardinal manifestation of rheumatic fever, but it is more common in girls. We describe two boys who developed Sydenham's chorea and were successfully treated.
Case 1: A 5-year-old boy started an involuntary movement of his hand, progressing to all the upper limbs, bilaterally. The family observed a deterioration in his handwriting skills. Heart auscultation did not reveal any murmur, and the oropharynx examination was normal. A brain magnetic resonance imaging, cerebrospinal fluid, and echocardiography were interpreted as normal. He was treated with valproate 2.5mL twice a day. Prophylaxis with benzathine penicillin was started using 600,000IU every 21 days. After four months, the patient was asymptomatic, and valproate was tapered off.
Case 2: A 7-year-old boy with a long history of frequent otitis and pharyngitis started involuntary movements of his face and on his upper limbs, and also, his mother noted tics on his face. A brain magnetic resonance imaging and transthoracic echocardiography were normal. He was treated with haloperidol 10 drops (1mg) twice a day, and prophylaxis with benzathine penicillin was started using 600,000IU every 21 days. After three months, the patient was asymptomatic, all chorea manifestations resolved, haloperidol was then tapered off. In conclusion, this study illustrates two uncommon cases of boys who developed Sydenham's chorea and had a good outcome.
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http://dx.doi.org/10.31138/mjr.32.4.369 | DOI Listing |
Methods Cell Biol
January 2025
State University of Minas Gerais, Department of Biomedical Sciences and Health, Passos, MG, Brazil. Electronic address:
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterized by a repeat of the cytosine-adenine-guanine trinucleotide (CAG) in the huntingtin gene (HTT). This results in the translation of a mutant huntingtin (mHTT) protein with an abnormally long polyglutamine (polyQ) repeat. The pathology of HD leads to neuronal cell loss, motor abnormalities, and dementia.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Chair and Department of General Biology and Parasitology, Medical University of Warsaw, Chałubińskiego 5, 02-004 Warsaw, Poland.
Diabetes mellitus (DM) and neurodegenerative diseases/disturbances are worldwide health problems. The most common chronic conditions diagnosed in persons 60 years and older are type 2 diabetes mellitus (T2DM) and cognitive impairment. It was found that diabetes mellitus is a major risk for cognitive decline, dementia, Parkinson's disease (PD), Alzheimer's disease (AD), Huntington's disease (HD), amyotrophic lateral sclerosis (ALS) and other neurodegenerative disorders.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.
Background/objectives: Artificial intelligence and large language models like ChatGPT and Google's Gemini are promising tools with remarkable potential to assist healthcare professionals. This study explores ChatGPT and Gemini's potential utility in assisting clinicians during the first evaluation of patients with suspected neurogenetic disorders.
Methods: By analyzing the model's performance in identifying relevant clinical features, suggesting differential diagnoses, and providing insights into possible genetic testing, this research seeks to determine whether these AI tools could serve as a valuable adjunct in neurogenetic assessments.
Sci Rep
January 2025
Cognition and Brain Plasticity Unit, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Barcelona, Spain.
One of the principal goals of Precision Medicine is to stratify patients by accounting for individual variability. However, extracting meaningful information from Real-World Data, such as Electronic Health Records, still remains challenging due to methodological and computational issues. A Dynamic Time Warping-based unsupervised-clustering methodology is presented in this paper for the clustering of patient trajectories of multi-modal health data on the basis of shared temporal characteristics.
View Article and Find Full Text PDFMov Disord
January 2025
British Columbia Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
Background: Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients and families.
Objective: The aim was to identify the genetic cause of a severe progressive movement disorder phenotype in 2 affected brothers.
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