Is heritability of alopecia areata sex-specific? A nationwide population-based cohort study.

Previous studies have demonstrated the heritability of alopecia areata (AA). However, whether the heritability of AA is sex-specific has not been examined. A nationwide population-based retrospective cohort study was performed using the Taiwan Maternal and Child Health Database from 2004 to 2017. We examined the heritability of AA in offspring of parents with and without AA, and determined whether the transmission of AA from parents to the next generation may occur in opposite directions depending on sex. We found that the risk ratio (RR) for heritability of AA between parents with and without AA was approximately two-fold. In addition, for fathers with AA, the risk of AA in offspring tended to be higher in girls than in boys (RR: 2.97; 95% confidence interval: 0.94, 9.31). Therefore, the present study confirms the heritability of AA, and further studies examining the sex-specific heritability of AA with a larger sample are warranted.

Increased incidence of ischaemic heart disease and cerebrovascular disease in psoriasis patients with depression: a nationwide retrospective cohort study.

BACKGROUND: Psoriasis is known to confer a higher risk of cardiovascular and cerebrovascular diseases. However, very few studies have investigated whether the development of depression in psoriasis patients may further increase this vascular risk. OBJECTIVE: We investigated the risk of ischaemic heart disease and cerebrovascular disease in Taiwanese psoriasis patients with and without depression. METHODS: A nationwide population-based retrospective cohort study was performed using the National Health Insurance Research Database. We included 604 psoriasis patients with depression, who were matched to 2416 psoriasis patients without depression (1 : 4 ratio). Relative risks (RR) with 95% confidence intervals (CI) were determined using the Cox proportional hazards regression model, with adjustment for demographic characteristics and comorbidities. RESULTS: Compared with psoriasis patients without depression, psoriasis patients with depression had greater risk of developing incident ischaemic heart disease (19.5% vs. 8.3%, adjusted RR 1.98, 95% CI 1.57-2.49), cerebrovascular disease (15.6% vs. 5.9%, adjusted RR 2.29, 95% CI 1.76-2.98), and either ischaemic heart disease or cerebrovascular disease (28.3% vs. 12.5%, adjusted RR 1.94, 95% CI 1.60-2.35). Subgroup analysis showed that in psoriasis patients with depression, a higher risk of incident ischaemic heart disease or cerebrovascular disease was present in age groups 30-100 years, in both males and females, and in both lower and higher income categories. CONCLUSION: Depression is an independent risk factor for incident ischaemic heart disease and cerebrovascular disease in patients with psoriasis. Therefore, clinicians need to be vigilant for the increased vascular risk in psoriasis patients with depression.

[Clinical and genetic manifestations of immunodeficiency, centromeric instability, and facial anomalies syndrome: a case report and literature review].

Objective: To analyze the clinical and genetic features of immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with a case report and literature review. Methods: The clinical data and genetic test of a girl diagnosed with ICF syndrome in the Department of Nephrology and Immunology in Qingdao Women and Children's Hospital in December 2016 were extracted and analyzed. "ICF syndrome" "immunodeficiency, centromeric instability and facial anomalies syndrome" "ICF syndrome and DNMT3B" were used as key words to search Chinese databases and Pubmed for literature until March 2018, and the literature was reviewed. Results: A female patient aged 22 months old with ocular hypertelorism and low-set ears was admitted due to recurrent infection over one year. Laboratory tests showed humoral immune deficiency with IgG<1.34 g/L, IgA<0.060 g/L, and IgM<0.179 g/L, but normal cellular immunity (total T lymphocyte 0.503, hepler T lymphocyte 0.328, cytotoxic T lymphocyte 0.166, natural killer cell 0.184, total B lymphocyte 0.276). Whole-exome sequencing revealed a de novo heterozygous splice site mutation c.922-2A>G in intron 8, and a de novo heterozygous missense mutation c.2477G>A in exon 23 of DNMT3B gene. Chromosome karyotype analysis showed 46, XX, with 64 out of 100 karyotypes showing centromere instability in chromosome 1. Five papers were found which were all in English, with total of 29 patients. Forty-three mutations were reported, including 34 missense, 2 deletion, 1 insertion, 6 splice site mutations. Eleven patients had complex heterozygosis mutations. All patients had centromere instability, humoral immune deficiency and facial dysplasia which were mainly ocular hypertelorism and low-set ears. Most patients had language and motor development delay, and a few were combined with mental retardation. Conclusions: ICF syndrome is a rare autosomal recessive primary immunodeficiency with classic clinical triad manifestations. De novo mutation of DNMT3B gene is one of etiologies according to genetic test.

Association between psoriasis, psoriatic arthritis and gout: a nationwide population-based study.

BACKGROUND: Psoriasis is a common skin disease that has been recently found to be associated with various systemic inflammatory disorders. However, the association between psoriasis and gout has not been well defined. OBJECTIVE: We investigated whether there is an association between psoriasis, psoriatic arthritis and gout in a large population of patients in Taiwan. METHODS: A nationwide population-based cross-sectional study was performed using the Taiwanese National Health Insurance Research Database (NHIRD). A total of 114 623 patients with gout and 114 623 patients without gout (1 : 1 propensity score-matched according to age, sex, income category and urbanization level) were identified. The prevalence of psoriasis, psoriatic arthritis and other comorbid diseases in these two groups of patients was compared. Adjusted odds ratios (OR) were calculated using conditional logistic regression. RESULTS: There was an increased prevalence of psoriasis in patients with gout compared with patients without gout (1.6% vs. 1.1%, P < 0.0001). Subgroup analysis showed an increased prevalence of psoriatic arthritis (0.3% vs. 0.1%, P < 0.0001) in patients with gout compared with patients without gout. In addition, multiple conditional logistic regression analysis showed that gout was significantly associated with psoriasis (adjusted OR 1.30, 95% CI 1.20-1.42) and psoriatic arthritis (adjusted OR 2.50, 95% CI 1.95-3.22). After stratification by age and sex, it was found that the strength of the association between gout and psoriasis was similar among males and females but varied according to age group, with patients aged 41-50 years having the strongest association. CONCLUSION: Gout is significantly associated with psoriasis and psoriatic arthritis in the Taiwanese population, and the strength of the association varies with the patient's age. Further studies are warranted to elucidate the molecular mechanisms underlying this association.

Analysis of metabolic profiles of generalized aggressive periodontitis.

BACKGROUND AND OBJECTIVE: The specific pathogenesis of generalized aggressive periodontitis (GAgP) has not yet been clarified, and few studies have focused on the association between GAgP and metabolomics. To elucidate the roles of metabolic profiles in the status of GAgP, this study aimed to identify the differential metabolic profiles between patients with GAgP and healthy controls using an untargeted metabolomic profiling method. MATERIAL AND METHODS: Serum and gingival crevicular fluid samples were collected from healthy controls (n = 20) and patients with GAgP (n = 20) in this cross-sectional study. The relative levels of biomarkers in the samples were measured by gas chromatography-mass spectrometry. Principal components analysis and orthogonal partial least-squares discriminant analysis were used for statistical analysis. Metabolites were analysed qualitatively using the FiehnLib and NIST databases. Full-mouth probing depth and clinical attachment loss were recorded as indexes of periodontal disease. RESULTS: A total of 349 metabolites were qualitatively detected in the gingival crevicular fluid samples, and 200 metabolites were detected in the serum samples. Compared with healthy controls, patients with GAgP showed significant increases in serum urea and allo-inositol levels. In contrast, glutathione, 2,5-dihydroxybenzaldehyde, adipic acid and 2-deoxyguanosine levels were decreased in patients with GAgP. In the gingival crevicular fluid samples, noradrenaline, uridine, α-tocopherol, dehydroascorbic acid, xanthine, galactose, glucose-1-phosphate and ribulose-5-phosphate levels were increased in patients with GAgP, while thymidine, glutathione and ribose-5-phosphate levels were decreased. CONCLUSION: The metabolomics analysis by gas chromatography-mass spectrometry is an effective and minimally non-invasive way to differentiate the metabolites characteristic of patients with GAgP. Both serum and gingival crevicular fluid metabolomics are significantly different between patients with GAgP and healthy controls. These metabolic profiles have great potential in detecting GAgP and helping to understand its underlying mechanisms.

Factors affecting the use of anti-amoebiasis protective measures among Taiwan immigrants returning to amoebiasis-endemic regions.

OBJECTIVE: To investigate the predictors of use of anti-amoebiasis protective measures (AAPMs) among Taiwan immigrants returning to their country of origin, using the Health Belief Model (HBM) to guide the investigation. DESIGN: Cross-sectional study. METHODS: Between March and May 2011, all permanent immigrants originating from amoebiasis-endemic countries who received services at the immigrant service centres in Taipei or Tainan and who reported that they had returned to their country of origin within the past five years were enrolled in the study. A structured questionnaire containing questions on sociodemographic characteristics and items related to the constructs of the HBM was used as the data collection instrument. RESULTS: Complete information was collected from 384 immigrants, with a response rate of 80% (384/480). The mean age of the subjects was 38.4 years (standard deviation 10.6 years). The majority (70%) of participants did not receive travel information through a pretravel consultation, and more than 17% reported that they did not use measures to prevent amoebiasis. Multiple regression analyses revealed that Chinese proficiency, pretravel consultation and lower barriers to using protective measures were significantly associated with the use of AAPMs during return trips to country of origin (R(2) = 0.45; F = 77.5; P < 0.001). CONCLUSION: The HBM significantly predicted the use of AAPMs in this study. A high proportion of immigrants did not use appropriate AAPMs when they returned to their country of origin. Educational approaches should be targeted at immigrants originating from amoebiasis-endemic regions who return to their country of origin.

Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism.

We tested the hypothesis that mutations in NR5A1 and PIN1 cause disorders in gonadotropin-gonadal system development and function, throught direct DNA sequencing of the coding sequence and splice-sites of NR5A1 and PIN1 in 50 subjects with sporadic idiopathic hypogonadotropic hypogonadism. These patients were recruited from the Pediatrics section of Tongji Hospital, Tongji Medical College, in Wuhan, China. None of the affected subjects had clinical signs of adrenal insufficiency. The NR5A1 and PIN1 mutations were found in 7 of the 50 cases. These 7 individuals presented severely low serum concentrations of testosterone or of estradiol and gonadotropin. Adrenal insufficiency was not diagnosed in any of these patients. Consequently, NR5A1 and PIN1 mutations should be considered in idiopathic hypogonadotropic hypogonadism patients with normal karyotypes and without adrenal insufficiency.

Dermoscopy of Kaposi's sarcoma: areas exhibiting the multicoloured 'rainbow pattern'.

BACKGROUND: Kaposi's sarcoma is a vascular tumour characterized by a proliferation of spindle cells and endothelial cells to form closely arranged slit-like vascular spaces. Currently, the definitive diagnosis of Kaposi's sarcoma relies on histology. The dermoscopic features of Kaposi's sarcoma are not clearly defined in the scientific literature. OBJECTIVES: We seek to evaluate the dermoscopic features of Kaposi's sarcoma and compare them with other vascular tumours. METHODS: One hundred forty-one lesions from seven patients with histologically proven Kaposi's sarcoma were evaluated using polarized light dermoscopy for the presence of various dermoscopic features. Twenty patients with other vascular tumours were also examined. RESULTS: Dermoscopic examination revealed bluish-reddish coloration (84% of lesions), multicoloured areas showing various colours of the rainbow spectrum (36%), scaly surface (29%), and small brown globules (15%). The 'rainbow pattern' was found in six out of seven patients with Kaposi's sarcoma and was not observed in other vascular tumours. In addition, there was an absence of dermoscopic features specific for other vascular and non-vascular skin tumours, such as well-defined lacunae or structured vascular pattern, in most of the Kaposi's sarcoma lesions. CONCLUSIONS: The most frequent dermoscopic patterns in Kaposi's sarcoma were found to be bluish-reddish coloration, the 'rainbow pattern', and scaly surface. The rainbow pattern is a dermoscopic feature which has not been previously described. We propose that dermoscopy, as an adjunct to clinical examination, may enhance accuracy in the preoperative diagnosis of Kaposi's sarcoma.

Rainbow pattern in Kaposi's sarcoma under polarized dermoscopy: a dermoscopic pathological study.

BACKGROUND: We found previously that the features of Kaposi's sarcoma (KS) under polarized dermoscopy are characterized by a bluish-reddish coloration, a scaly surface, small brown globules and, most distinctively, the multicoloured 'rainbow pattern'. OBJECTIVES: To evaluate the significance of the rainbow pattern on dermoscopy as a diagnostic feature in KS, and to demonstrate that it is associated with the unique vascular structure of the tumour. METHODS: More than 100 lesions from seven patients with histologically proven KS were examined with polarized light dermoscopy. Sixty-three patients with various other cutaneous vascular and nonvascular tumours were also examined. KS lesions exhibiting the rainbow pattern and KS lesions lacking the rainbow pattern on dermoscopy were excised, and dermoscopic features were compared with histopathological structures. The dermoscopic patterns of other vascular tumours were also compared with histological features. In addition, the changes in dermoscopic features and histological structures were assessed before and after surgical therapy in one patient with KS. RESULTS: On the basis of evaluations with polarized dermoscopy, the rainbow pattern was found to be a highly specific dermoscopic feature for KS. Histology of KS lesions showing the rainbow pattern under polarized light dermoscopy demonstrated a vascular lumen-rich pattern of closely arranged 'back-to-back' vascular structures, whereas histology of KS lesions without the rainbow pattern showed a vascular lumen-poor pattern with vascular lumina separated further apart by intervening stromal and cellular tissue. Other vascular tumours did not exhibit the rainbow pattern and were characterized histologically by variably sized vascular structures separated by substantial amounts of stromal and cellular tissue. In one patient with KS, disappearance of the rainbow pattern was associated with obliteration of the vascular structure following surgical ablation therapy. CONCLUSIONS: The rainbow pattern in KS is associated with the vascular lumen-rich histological subtype, is not manifest in the vascular lumen-poor subtype and disappears following total tumour removal. Therefore, the underlying structural arrangement of the vessels in KS may determine whether or not the rainbow pattern can be seen on polarized dermoscopy.