Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine

Junctional epidermolysis bullosa (JEB) is a hereditary blistering disease caused by reduced dermal-epidermal adhesion due to deficiencies of one of the proteins, laminin-332, type XVII collagen, integrin α6β4 or integrin α3. Significant progress has been achieved in the development of therapies for EB, such as bone-marrow transplantation, local or systemic injections with fibroblasts or mesenchymal stromal cells, readthrough of premature termination codons, or exon skipping. These were tailored in particular for dystrophic EB, which is caused by type VII collagen deficiency and have not yet reached broad clinical practice. Recently, pioneering combined gene and stem cell therapy was successful in treating one boy with junctional EB. Beside these exclusive approaches, no specific therapy to amend the major clinical features, skin and mucosal blistering and non-healing wounds is available to date. Here we extend the mutational spectrum of junctional EB, provide a stratification of COL17A1 mutations and discuss potential molecular therapeutic approaches

A Recurrent Case of Targetoid Hemosiderotic Hemangioma: A Case Report and a Comprehensive Review of the Literature

Targetoid hemosiderotic hemangioma is an acquired vascular malformation of unknown origin. We report the case of a 31-year-old man with a recurrent and spontaneous regressive targetoid hemosiderotic hemangioma. Diagnosis relied on clinical and histological findings. Physical examination revealed presence of an approximately 2 cm targetoid lesion located on the left arm, and associated with pain after pressure. No trigger agent (trauma, insect sting) was reported. Dermoscopy showed a group of red lacunae centrally, encircled by an intermediate yellow circular homogenous area and a red violaceous homogenous ring in the periphery. The histopathological examination and the immunohistochemical staining of the lesion were characteristic for a hemangioma-like proliferation of vessels in the upper part of the dermis, similar to a targetoid hemosiderotic angioma. We also review epidemiological, clinical, and histopathological findings in 6 similar cases presented in the literature. Spontaneous regression and recurrence have rarely been described in this type of skin lesion

Sexual behaviour, attitudes and knowledge about sexually transmitted infections: A cross-sectional study in Romania

Sexually transmitted infections (STIs) are serious public health problems. Little is known about sex knowledge, attitudes, and sexual behaviors among young adults in Romania; an effective preventive campaigns should be based on an appropriate understanding of these factors. The aim of the present study was to obtain data about sexual behavior, attitudes, and knowledge about STIs among university students aged 18-25 in Romania. 3872 persons completed an internet-based questionnaire, advertised on Facebook, regarding sexual behavior, attitudes, and knowledge about STIs from January 28 to February 28, 2016. 6.01% of the respondents had no sexual experience; of the remaining (N=3639, 945 men and 2694 women) 94% were heterosexual, 1.5% homosexual, and 4.6% bisexual. 53.7% of the respondents started their sexual activity between 14 and 18 years of age; only 2.3% become sexually active before 14 years of age. 30% of both sexes reported multiple sexual partners during the previous year. 25.9% of men and 23.3% of women used no contraception at sexual onset, the proportion being higher among those with an early sexual debut. 98% of the respondents knew that HIV could be contracted sexually, 75.8% knew that gonorrhea and 61.1% that Chlamydia trachomatis were sexually transmitted, and approximately one third knew that trichomoniasis and hepatitis B or C were STIs. We found a relatively high proportion of students engaged in risky sexual behaviors and insufficient knowledge about STIs. The results are important in planning future sexual education campaigns and they call for new preventive strategies.</p

Sexual behaviour, attitudes and knowledge about sexually transmitted infections: A cross-sectional study in Romania

Sexually transmitted infections (STIs) are serious public health problems. Little is known about sex knowledge, attitudes, and sexual behaviors among young adults in Romania; an effective preventive campaigns should be based on an appropriate understanding of these factors. The aim of the present study was to obtain data about sexual behavior, attitudes, and knowledge about STIs among university students aged 18-25 in Romania. 3872 persons completed an internet-based questionnaire, advertised on Facebook, regarding sexual behavior, attitudes, and knowledge about STIs from January 28 to February 28, 2016. 6.01% of the respondents had no sexual experience; of the remaining (N=3639, 945 men and 2694 women) 94% were heterosexual, 1.5% homosexual, and 4.6% bisexual. 53.7% of the respondents started their sexual activity between 14 and 18 years of age; only 2.3% become sexually active before 14 years of age. 30% of both sexes reported multiple sexual partners during the previous year. 25.9% of men and 23.3% of women used no contraception at sexual onset, the proportion being higher among those with an early sexual debut. 98% of the respondents knew that HIV could be contracted sexually, 75.8% knew that gonorrhea and 61.1% that Chlamydia trachomatis were sexually transmitted, and approximately one third knew that trichomoniasis and hepatitis B or C were STIs. We found a relatively high proportion of students engaged in risky sexual behaviors and insufficient knowledge about STIs. The results are important in planning future sexual education campaigns and they call for new preventive strategies.</p

Association of Oral-Health Related Quality of Life and General Health Assessment in Patients with Rheumatoid Arthritis.

PURPOSE To determine the impact of oral health related quality of life (OHRQoL) on general health in patients suffering from rheumatoid arthritis (RA). MATERIALS AND METHODS Ninety-one patients with RA (mean age 52.82 ± 11 years, 75.82% female, 20.87% smokers) and 30 systemically healthy patients (control) were evaluated for their OHRQoL by means of the Geriatric Oral Health Assessment Index (GOHAI) and the Oral Health Impact Profile (OHIP)-14 questionnaires. Self-perceived RA status was assessed using the Routine Assessment of Patient Index Data 3 (RAPID3). RESULTS The mean SC-GOHAI score was 3.69 ± 2.47 for RA subjects and 1.36 ± 2.69 in the control group. Statistically significant differences were seen between RA and control groups (p 12, mean RAPID3 score 14.39 ± 5.14). Statistically significantly higher values were recorded for general health assessment (PTGE, p = 0.009) and fatigue (FT, p = 0.004) in RA with PA as compared to those without. SC-GOHAI with values between 5 and 8 was statistically significantly associated with high severity health impairment (RAPID3 >12, p = 0.014, OR: 8.64). CONCLUSION Within their limits, the present findings indicate that: a) moderate OHRQoL as assessed by GOHAI may contribute to high severity impairment of health in RA patients, and b) the GOHAI questionnaire may represent a more adequate tool than OHIP-14 for assessing OHRQoL in patients suffering from RA

Expression of advanced glycation end-products on sun-exposed and non-exposed cutaneous sites during the ageing process in humans.

The glycation process is involved in both the intrinsic (individual, genetic) and extrinsic (ultraviolet light, polution and lifestyle) aging processes, and can be quantified at the epidermal or dermal level by histological, immunohistochemical (IHC), or imagistic methods. Our study is focused on a histological and immunohistological comparison of sun-protected regions versus sun-exposed regions from different age groups of skin phototype III subjects, related to the aging process. Skin samples collected from non-protected and UV protected regions of four experimental groups with different ages, were studied using histology and IHC methods for AGE-CML [N(epsilon)-(carboxymethyl)lysine]. A semi-quantitative assessment of the CML expression in the microvascular endothelium and dermal fibroblasts was performed. The Pearson one-way ANOVA was used to compare data between the groups. In the dermis of sun-exposed skin, the number and the intensity of CML positive cells in both fibroblasts and endothelial cells (p<0.05) was higher compared to sun-protected skin, and was significantly increased in older patients. The sun-exposed areas had a more than 10% higher AGE-CML score than the protected areas. No statistically significant correlation was observed between the histological score and the IHC expression of CML. We concluded that in healthy integument, the accumulation of final glycation products increases with age and is amplified by ultraviolet exposure. The study provides new knowledge on differences of AGE-CML between age groups and protected and unprotected areas and emphasizes that endothelium and perivascular area are most affected, justifying combined topical and systemic therapies

Gene Expression of Indoleamine 2,3 Dioxygenase 1, Insulin-Growth Factor 1 and Red/IK Cytokine in Alopecia Areata

Alopecia areata (AA) is a chronic, T-cell mediated autoimmune disease directed against the hair follicle, which partially evolves due to a loss of the immune privilege of the anagen hair follicle. The immune privilege is maintained by several factors, including a downregulation of MHC class I and II, local immunosupressants and expression of Fas ligand. The purpose of the study was to evaluate several factors involved in the collapse and restoration of the immune privilege. We investigated IDO1, IGF1 and red/IK gene expression in lesional and perilesionalscalp biopsies from alopecia areata patients. Seven paired punch-biopsies were taken from the active edge of alopecic plaque and from the perilesional scalp. Expression of IDO1, IGF1 and red/IK genes was performed by qRT-PCR. In lesional tissue, IGF1, IDO1 and red/IK genes showed an increase in the mRNA levels as compared with the perilesional scalp. By comparing the pairs of data for the investigated genes, IDO1was statistically upregulated in the lesional area. No significant differences were observed between the gene expression in mild or severe AA, from the lesional or perilesional areas. IDO1 mRNA expression was higher in patients with a relapse duration of less than 6 months as compared to patients with a relapse duration of more than 6 months; levels of IGF1 and red/IK mRNA are increased in lesionals compared to perilesional scalp area

Autoimmune diseases and vitamin D receptor Apa-I polymorphism are associated with vitiligo in a small inbred Romanian community

Vitiligo has been associated with the host's genetic profile, metabolic abnormality and immunostatus. The purpose of this study was to investigate the association of vitiligo with autoimmune diseases for 31 out of 39 subjects with vitiligo and their first-degree relatives living in a small Caucasian inbred rural community. They were compared with healthy individuals. A 2.28% prevalence of vitiligo was calculated and the presence of consanguine marriages (72.3%) was noted for this community. Our results indicate an increased prevalence of thyroidopathies, diabetes mellitus and rheumatoid arthritis in families with vitiligo. We also show that the Apa-I polymorphism of the vitamin D receptor gene is associated with vitiligo. This is the first study of its kind performed in Romania suggesting that the vitamin D receptor gene might play a role in the aetiopathogenesis of skin depigmentatio