Immunological Profiles in Parry-Romberg Syndrome: A Case-Control Study
Conclusions: Our case-control study is the first to compare the immunological profiles of PRS and scleroderma patients. The higher percentage of Th17 cells in PRS suggests the use of anti-IL17 receptor monoclonal antibody in this rare disease; however, further studies with larger numbers of patients are needed to confirm our findings.PMID:38592689 | PMC:PMC10932088 | DOI:10.3390/jcm13051219 (Source: Methods of Information in Medicine)
Source: Methods of Information in Medicine - April 9, 2024 Category: Information Technology Authors: Irma Saulle Antonio Gidaro Mattia Donadoni Claudia Vanetti Alessandra Mutti Maria Eva Romano Mario Clerici Chiara Cogliati Mara Biasin Source Type: research
Epidemiological analysis to identify predictors of X-linked hypophosphatemia (XLH) diagnosis in an Italian pediatric population: the EPIX project
ConclusionFindings showed that data-driven machine learning models may play a prominent role for the prediction of the diagnosis of rare diseases such as XLH. (Source: Endocrine)
Source: Endocrine - April 9, 2024 Category: Endocrinology Source Type: research
Genotype-phenotype associations in microtia: a systematic review
Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role i... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 9, 2024 Category: Internal Medicine Authors: Siti Isya Wahdini, Fina Idamatussilmi, Rachmaniar Pramanasari, Almas Nur Prawoto, Citrawati Dyah Kencono Wungu, Indri Lakhsmi Putri and Gunadi Tags: Research Source Type: research
The socioeconomic epidemiology of inherited retinal diseases in Portugal
Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. Knowing the target population and its resources is essential... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 9, 2024 Category: Internal Medicine Authors: Ana Marta, Jo ão Pedro Marques, Cristina Santos, Luísa Coutinho-Santos, Sara Vaz-Pereira, José Costa, Pedro Arede, Raquel Félix, Sara Geada, Nuno Gouveia, Rui Silva, Margarida Baptista, Miguel Lume, Ricardo Parreira, Célia Azevedo Soares, Maria João Tags: Research Source Type: research
