Objectives: The overall distribution of disease courses in multiple sclerosis (MS) is well established, but little is known about the distribution among familial MS cases. We examine the frequency of the different MS courses among familial and sporadic MS cases and determine whether MS cases within the same family had the same age at diagnosis and have experienced the same disease course.
Materials And Methods: This is a nationwide register study, based on data from the Danish MS Registry, the Danish Civil Registration System, and the Danish National Patient Registry. The main variables are MS diagnosis, MS course, and first-degree relatives with MS The statistical analyses were carried out using logistic regression analysis, Kappa coefficient, and intraclass correlations coefficient.
Results: In total, 7402 MS cases were included in the study, of which 531 have an affected first-degree relatives, and 6871 are sporadic. We found that relapsing-remitting MS including secondary progressive MS was more common among familial MS cases than among sporadic MS cases (Odds ratio = 1.64, 95% CI: 1.20-2.24, P = 0.002). We subsequently analyzed data on 133 MS families and found that MS courses correlate between the first and the second MS case diagnosed, while age at diagnosis does not.
Conclusion: Familial MS cases are more likely to have relapsing-remitting MS than a progressive course compared to sporadic MS cases. Secondly, we find that within MS families, first-degree relatives are likely to have the same MS course, but we do not find that they are diagnosed at the same age.
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http://dx.doi.org/10.1111/ane.13044 | DOI Listing |
Infect Dis (Lond)
January 2025
Department of Epidemiology and Biostatistics, College of Public Health, University of Georgia, Athens, GA, USA.
Background: Whether a detected virus or bacteria is a pathogen that may require treatment, or is merely a commensal 'passenger', remains confusing for many infections. This confusion is likely to increase with the wider use of multi-pathogen PCR.
Objectives: To propose a new statistical procedure to analyse and present data from case-control studies clarifying the probability of causality.
J Infect Dev Ctries
December 2024
Internal Medicine Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Introduction: The objective of this study was to assess the effectiveness of ivermectin and colchicine as treatment options for coronavirus disease 2019 (COVID-19).
Methodology: A three-arm randomized controlled clinical trial was conducted in the Triage Clinic of the family medicine department at Ain Shams University Hospitals on participants who had been diagnosed with moderate COVID-19. Patients aged < 18 years or > 65 years, with any co-morbidities, pregnant or lactating females, and those with mild or severe COVID-19 confirmed cases were excluded.
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
View Article and Find Full Text PDFBMC Urol
January 2025
Department of Urology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Nan Li Shi Lu Street No.56, Beijing, 100045, China.
Background: To analyze the clinical characteristics, complications and patients satisfaction of MIP hypospadias variant.
Methods: A retrospective analysis was performed for 31 patients with MIP admitted to our hospital from January 2008 to February 2023. All enrolled patients underwent telephone follow-up and a survey was conducted on the satisfaction of patients and their families.
J Clin Lipidol
December 2024
Internal Medicine Department, Coimbra's Healthcare Integrated Delivery System, Praceta Professor Mota Pinto, 3004-561, Coimbra, Portugal.
Tangier disease is an extremely rare autosomal recessive monogenic disorder caused by mutations in the ATP binding cassette transporter A1 gene (ABCA1). It is characterized by severe deficiency or absence of high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA1), with highly variable clinical presentations depending on cholesterol accumulation in macrophages across different tissues. We report a case of a 47-year-old man with very low HDL-C and very high triglyceride levels, initially attributed to the patient's metabolic syndrome, alcohol abuse, and splenomegaly.
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