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 x03B3; 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: Complications caused by female genital mutilation (FGM), such as clitoral pain, reduced sensation, and diminished sexual function, can be alleviated by clitoral reconstruction, which can also improve the aesthetics and restore the anatomy of the genitalia.

OBJECTIVES: The aim of this study was to create sensate labial flaps to cover the neoclitoris and assess the outcome of the procedure.

METHODS: Between December 2018 and July 2020, 40 patients with FGM underwent clitoral reconstruction and coverage with sensate labial flaps donated by the remnant of the labia minora and were followed prospectively. Flaps were mapped on the less-mutilated labia minora according to recent descriptions of arterial anatomy and innervation. Before the surgery, the patients' clitoral sensation was assessed on a 6-point scale and they were also given the Female Sexual Functional Index (FSFI) questionnaire to complete. Eight and 24 weeks postoperatively, the same assessment was repeated and the data compared.

RESULTS: The mean Female Sexual Functional Index score increased significantly from 11.64 (range, 2.8-25.6) preoperatively to 29.14 (range, 12.8-35.4) postoperatively. Similarly, clitoral sensation increased significantly from 2.35 (range, 1-4) before the surgery to 4.9 (range, 2-6) after the surgery. In total, 95% of patients benefited from the surgery.

CONCLUSIONS: Clitoral reconstruction with sensate labial flaps after FGM resulted in significant improvements in sexual function, clitoral sensation, genital aesthetics, and self-esteem.

LEVEL OF EVIDENCE: 4:

Toll-like receptors (TLRs) are innate immune receptors that mediate the inflammatory response in diabetes mellitus (DM). The aim of this study is to evaluate the association of TLR2 and TLR9 gene polymorphism in patients with type 2 DM (T2DM) and diabetic foot (DF).The study included 90 subjects divided into group I (30 patients with T2DM and DF), group II (30 patients with T2DM and no evidence of DF), and group III (normal control subjects). TLR2 (1350 T/C, rs3804100) and TLR9 (1237 T/C, rs5743836) genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique for all subjects.There was a statistically significant difference in the distribution of TLR9-1237 T/C genotypes between groups I and II (P < .029) as well as between groups I and III (P < .001). Calculated risk estimation revealed that TLR9-1237 polymorphism conferred almost 20 times increased risk of DF disorders in T2DM (OR = 20, 95% CI = 5.38-74.30). There was no statistical difference in the distribution of TLR2-1350T/C genotypes between the 3 groups.TLR9-1237 T/C gene polymorphism may be considered as a molecular risk for DF among patients with T2DM.