Objective: SSc is a CTD characterized by excessive fibrosis of the skin and internal organs, along with microvascular damage, and is often associated with typical autoantibodies. The aim of this study was to analyse the correlation between specific autoantibody profiles, clinical and paraclinical features in Moroccan patients with SSc.
Methods: We analysed the presence of specific autoantibodies in 46 SSc patients using IIF on HEp-2 cells and immunodot. We then correlated the types of autoantibodies with clinical and laboratory manifestations.
Results: Among our patients, 86.9% were females. The mean age of patients at diagnosis was 50.21 years, with an average delay to diagnosis of 5 years. The main clinical manifestations found were RP (89.2%), sclerodactyly (84.8%), proximal scleroderma (67.4%), gastrointestinal involvement (50%) and interstitial lung disease (30.4%). According to the specific autoantibody profile, 14 patients were anti-topo I positive (30.4%), 8 anti-RNP (68 kDa/A/C) positive (17.4%) and 6 anti-RNA polymerase III positive (13%). We found a significant association of anti-RNA polymerase III with sclerodactyly and pulmonary arterial hypertension (<0.05). We also found an association between anti-topo I and interstitial lung disease in 30.4% of patients. There was no significant association between the positivity for the autoantibodies and other diagnosed clinical manifestations.
Conclusion: Some clinical manifestations of SSc might be positively correlated with the presence of specific autoantibodies. Environmental factors, ethnicity and gene interaction might also influence this correlation.
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http://dx.doi.org/10.1093/rap/rkad036 | DOI Listing |
Trop Med Infect Dis
December 2024
Department of Infectious Diseases, University Hospital Mohamed VI, Marrakesh, Faculty of Medicine and Pharmacy FMPM, Cadi Ayyad University, Marrakesh 40000, Morocco.
Tuberculosis is no longer confined to developing nations; it persists as a significant contributor to illness and death on a global scale. The subtle clinical manifestation and association with human immunodeficiency virus infection poses obstacles for early diagnosis and management. Tuberculosis manifesting at extrapulmonary sites is relatively rare.
View Article and Find Full Text PDFClin Pract
January 2025
Laboratory of immunology and HLA, Center of Clinical Research, Mohammed VI University Hospital, Marrakech 43150, Morocco.
Many factors contribute to the development and the progression of Multiple Sclerosis (MS), including Human Leukocyte Antigen (HLA) molecules. Some of them are considered as predisposing, like DRB1*15, DRB1*13, DRB1*03, DRB1*04, DQB1*06, DQB1*02, while HLA A2, HLA B44, DRB1*11, and DRB1*12 are rather considered as protective. Data about such associations in the Moroccan population remain unknown.
View Article and Find Full Text PDFMov Disord Clin Pract
January 2025
Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Hôpital de la Salpêtrière, INSERM, CNRS, Paris, France.
Background: Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and nonmotor symptoms, with a significant genetic component. Early-onset Parkinson's disease (EOPD), manifesting before age 45, is often linked to mutations in genes such as PARK2, PINK1, and PARK7, the latter coding for the protein DJ-1.
Objective: We present the first reported cases of EOPD carrying a previously undescribed homozygous PARK7 mutation, p.
Mol Biol Rep
January 2025
Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.
Background: Male infertility (MI) is a polygenic condition mainly induced by spermatogenic failure/arrest or systemic disease with a large clinical spectrum. Lately, genetic sequencing allowed the identification of several variants implicated in both aforesaid situations.
Methods And Results: In this case study, we performed whole exome sequencing (WES) on the genomic DNA of a 37-year-old Moroccan man with Non-Obstructive Azoospermia.
Introduction Awake brain surgery (ABS) is a groundbreaking technique that not only enhances tumor resection but also preserves vital neurocognitive functions, particularly through advanced brain mapping. Despite its success in adults, ABS in pediatric patients remains significantly underexplored, especially concerning the role of speech-language pathology (SLP) in these procedures. This study addresses this gap by providing a thorough examination of SLP interventions in pediatric ABS across various university hospitals, including those in Morocco and internationally.
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