Frontal fibrosing alopecia: A review of disease pathogenesis.

Frontal fibrosing alopecia (FFA) is a primary patterned cicatricial alopecia that mostly affects postmenopausal women and causes frontotemporal hairline regression and eyebrow loss. Although the incidence of FFA has increased worldwide over the last decade, its etiology and pathology are still unclear. We cover the latest findings on its pathophysiology, including immunomodulation, neurogenic inflammation, and genetic regulation, to provide more alternatives for current clinical treatment. A persistent inflammatory response and immune privilege (IP) collapse develop and lead to epithelial hair follicle stem cells (eHFSCs) destruction and epithelial-mesenchymal transition (EMT) in the bulge area, which is the key process in FFA pathogenesis. Eventually, fibrous tissue replaces normal epithelial tissue and fills the entire hair follicle (HF). In addition, some familial reports and genome-wide association studies suggest a genetic susceptibility or epigenetic mechanism for the onset of FFA. The incidence of FFA increases sharply in postmenopausal women, and many FFA patients also suffer from female pattern hair loss in clinical observation, which suggests a potential association between FFA and steroid hormones. Sun exposure and topical allergens may also be triggers of FFA, but this conjecture has not been proven. More evidence and cohort studies are needed to help us understand the pathogenesis of this disease.

[Control study on colonoscopy skills acquiring from endoscopic simulation system transfering to patients].

OBJECTIVE: To explore the feasibility of transferring the skills from the AccuTouch flexible endoscopy simulator colonoscopy training to clinical practices. METHODS: The novice colonoscopies were divided into 2 groups.Group A (control group) including 4 trainees for traditional training, Group B (experimental group) including 4 trainees for simulator training. After training, we compared the number of cases for achieving independent competence, assisted competence and incompetence in the first ten patients. RESULTS: No significant differences existed between two groups in terms of age and gender (both P > 0.05). Significant differences existed in educational background and the controlled group was better than the experimental group (Z = -2.005, P = 0.04). The cases of independent completion, assisted competence and incompetence of the control and experimental groups were 2, 4, 9 and 21, 29, 15 respectively. Rank tests show that the simulator training was better than the traditional counterpart (average rank: 56.14 vs 24.86, Z = -6.393, P = 0.00). CONCLUSIONS: The skills acquired from AccuTouch Endoscopy Simulator may be well transferred into the clinical colonoscopy environment. It clearly supports the scheme of integrating simulator training into colonoscopic education curricula.

Association of the NFKBIA gene polymorphisms with susceptibility to autoimmune and inflammatory diseases: a meta-analysis.

OBJECTIVE: To quantitatively summarize the association of NFKBIA gene polymorphisms with autoimmune and inflammatory diseases. METHODS: We surveyed studies on the association of NFKBIA gene polymorphisms with autoimmune and inflammatory diseases in PubMed. Meta-analysis was performed in a fixed/random effect model. RESULTS: We identified 14 studies using a PubMed search. Meta-analysis was performed for NFKBIA gene polymorphisms at positions 2758 (A/G, 5 studies), -881 (A/G, 3 studies), -826 (C/T, 3 studies), and -297 (C/T, 3 studies). We did not detect associations of NFKBIA gene polymorphisms at positions 2758, -881, -297 with autoimmune and inflammatory diseases. An association of NFKBIA gene -826C/T polymorphism with autoimmune and inflammatory diseases was found (C vs. T: OR = 1.81, 95% CI = 0.97-3.36, P = 0.06; CT + TT vs. CC: OR = 2.11, 95% CI = 1.07-4.19, P = 0.03; TT vs. CC + CT: OR = 2.20, 95% CI = 0.78-6.21, P = 0.06; TT vs. CC: OR = 2.87, 95% CI = 0.78-10.62, P = 0.11; CT vs. CC: OR = 2.02, 95% CI = 1.22-3.36, P = 0.006). CONCLUSION: This meta-analysis demonstrates that autoimmune and inflammatory diseases are associated with NFKBIA gene -826C/T polymorphism, but not with 2758A/G, -881A/G, and -279C/T.

[Mutation analysis of ATP2C1 gene in a Chinese family with Hailey-Hailey disease].

OBJECTIVE: To study a Chinese pedigree with Hailey-Hailey disease (HHD) and identify the ATP2C1 gene mutation in this family. METHODS: All exons of the ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 80 unrelated population-matched controls. RESULTS: We identified a nonsense mutation 163C to T, resulting in a premature termination codon in ATP2C1 gene. The mutation was not found in normal individuals of the family and controls. CONCLUSION: The mutation can affect the result of transcription and translation of ATP2C1 gene, and it is firstly reported in the Chinese pedigree with HHD.