Background: Since spontaneous inflammation is an important contributor to familial Mediterranean fever (FMF), genetic variants mediating inflammation are of interest. We investigated gene variants in the acute-phase serum amyloid A type 1 (SAA1), a sensitive marker of inflammatory activity, and their association with susceptibility and severity of FMF. Methods: The genotypes of 2 single-nucleotide polymorphisms within exon 3 of SAA1 (2995C/T and 3010C/T) were determined in 105 Egyptian children with FMF and in 125 controls by polymerase chain reaction-restriction fragment length polymorphism. Genotyping of the causative MEFV mutations was performed by reverse hybridization. Results: The M694I mutation was the most frequent allele (42.8%), followed by V726A (18.6%), M680I (17.1%), E148Q (11.9%) and M694V (9.0%). The frequency of the SAA1 α, β and γ alleles was not significantly different between FMF patients and controls. The genotype frequency of SAA1 α/α was higher in patients than in healthy subjects (21.0 vs. 14.4%) although it did not reach statistical significance. The clinical manifestations including age at disease onset, number of FMF attacks, colchicine dose and severity score were not related to genotypes of SAA1. However, M694V mutation and female gender were significantly associated with severity. Conclusion: The genetic polymorphism of SAA1 is not associated with susceptibility and severity of FMF in Egyptian children.
Background Systemic lupus erythematosus (SLE) is a complex autoimmune disorder with significant disease-related comorbidity and considerably high mortality. Aim of the work Explore the survival rates and the spectrum of disease related comorbidities in an Egyptian cohort afflicted by SLE. Methods This is a single center observational cohort study performed in one of the leading medical Schools governmental hospitals for teaching and training in the North African region and Middle East sectors Kasr Alainy School of Medicine—Cairo University. Inclusion criteria: the investigators of the research question went for planned review of the medical records of adult SLE patients ≥16 years classified according to American College of Rheumatology (ACR) 1997 SLE classification criteria set forth by Hochberg, 1997 who received longitudinal clinical care during the time period from 1999 to 2019. Exclusion criteria: patients seen only once, other collagen vascular diseases, endocrinal, cardiovascular, or other multisystem disease diagnosed prior to the onset of SLE. Data analysis Survival was determined from the time of SLE diagnosis to the last contact or date of death. The cumulative probability of survival was estimated using Kaplan–Meier method. Differences in survival between patient groups were determined using the long-rank test. Results The study included records of two hundred and two SLE patients, 184 (91.1%) were females and 18 (8.9%) patients were males. The mean age at the time of diagnosis was 26.71 ± 7.93 years with a mean follow-up between mean: 6.6 ± 4.58 years, 34.15% had damage in at least one of the organ systems by Systemic Lupus International Collaborating Clinics American college of rheumatology damage index SLICC/ACR-DI in the first 6 months. Considering an outcome label of dead or alive at the end of follow-up period, results showed a total of 52 mortalities, 88.5% were females and 11.5% were males, mean age at death onset was 30.9 ± 8.8 years. Results of the Kaplan–Meier survival curve showed an overall cumulative probability of survival at 5, 10, 15, and 20 years after SLE diagnosis was 82.9, 68.8, 51.4, and 20.4%, respectively. Conclusion The cumulative probability of survival at 5, 10, 15, and 20 years after SLE diagnosis was 82.9, 68.8, 51.4, and 20.4%, respectively.
Aim
The current study assessed the clinical characteristics of patients suffering from Behcet's disease (BD)‐associated oral ulcers and investigated the effect of these oral ulcers on the oral health‐related quality of life (OHRQoL).
Methods
This study included BD patients suffering from active oral ulcers, defined by the revised International Criteria for BD (ICBD) criteria. We collected BD and oral ulcers characteristics. The oral ulcer activity index and OHRQoL were measured by composite index (CI) and Oral Health Impact Profile‐14 (OHIP‐14), respectively.
Results
Genital and ocular manifestations were the most frequent. Ocular manifestations were the main diagnostic manifestation. The mean age of BD diagnosis and first oral ulcer appearance were 32.15 ± 8.96 and 29.62 ± 9.04, respectively. Minor oral ulcers were more frequent; solitary or multiple. CI revealed that pain was more severe than functional disability. OHIP‐14 showed that patients suffered more often from pain and difficulties in eating. Patients reported feeling tense, being irritable, doing usual job with difficulty, and having less satisfying life.
Conclusion
BD‐associated oral ulcers lead to poor quality of life. Female gender, multiple ulcers, and buccal mucosa were associated with more severe pain and functional disability as well as poorer quality of life.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.