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Trichorhinophalangeal syndrome is an autosomal dominant disease caused by mutations in TRPS gene, characterized by skeletal, skin appendage, and endocrinological manifestations. Clinical presentation may vary widely, and the syndrome frequently remains undiagnosed. The diagnosis is mainly clinical, supported by radiographic images, and is confirmed by genetic investigation. Familiarity with this genetic disorder is crucial for providing correct and early identification, and for determining adequate supportive management, especially to prevent orthopedic complications.Incontinentia pigmenti is a rare genodermatosis that almost exclusively affects females. The disease is caused by a mutation of the nuclear factor-κB essential modulator (NEMO) gene in the Xq-28 locus of the X chromosome. The disease can seriously affect various organs, most notably the central nervous system and eyes. Cutaneous manifestation in incontinentia pigmenti is often mild but is an important diagnostic criterion for the disease. Treatment of cutaneous symptoms of incontinentia pigmenti is often not needed because they can spontaneously resolve. However, it should be noted that early diagnosis through parameters such as cutaneous manifestations is important so that prompt diagnosis and intervention for other organs can be made to prevent further fatal complications in the future.Bowen's disease (BD) is an intraepidermal squamous cell carcinoma (SCC) with the capacity to become invasive SCC giving rise to distant metastasis. In rare cases it can be associated with human papillomavirus (HPV) infection, specifically with HPV types 16, 18, 31, 32, and 34. Here we report a case of an immunocompetent white male, age 37, with an erythematous, irregularly-shaped patch in his suprapubic region, appearing 1 year after treatment for condylomata acuminata with cryotherapy and podophyllin in the same area. At the time of clinically active disease, a urethral smear was positive for high-risk HPV types. The lesion was considered a scar by several physicians because it emerged in an area of previous postinflammatory hyperpigmentation. The aim of this report is to raise awareness of the emerging causative association between anogenital HPV infection and the development of BD, which was the possible etiological agent in the case of the patient presented here. Hereby we also advocate primary preventive measures in terms of safe sexual habits and HPV vaccination.Atopic dermatitis is a multifactorial inflammatory skin disease with a complex immunopathogenesis that is characterized by an underlying imbalance of T-cell subsets. Although cytokines of type 2 immunity consistently predominate in the acute phase of atopic dermatitis, there is strong evidence supporting the contribution of cytokines of type 1 immunity, type 3 immunity, and other cytokines in the development and progression of the disease. This review explores the cytokine network in atopic dermatitis, and it highlights areas and causes of controversy in the immunopathogenesis of the disease. In addition, it presents the current therapeutic targets currently being investigated, including monoclonal antibodies and small molecules that inhibit cytokines and downstream signaling molecules in atopic dermatitis. We conclude that atopic dermatitis has a complex and controversial cytokine profile. Understanding the role of cytokines in the immunopathogenesis of the disease is essential for identifying personalized targets for better management and disease control.

Comorbidities of bullous pemphigoid (BP) have not been thoroughly described in Morocco. This study investigates clinical features, comorbidities, and medications in a cohort of Moroccan patients with confirmed BP to help decrease morbidity and mortality.

This cross-sectional study involved 81 cases of BP diagnosed in 2015-2018 and 162 age- and sex-matched controls with complete follow-up at the Department of Dermatology in a university hospital setting.

Eighty-one individuals were included in the study; the mean age at diagnosis was 71.3 years, and 53% were men. The most common comorbidities were hypertension (58%), type 2 diabetes (43%), and dyslipidemia (31%). Almost a quarter of the cohort (28%) had been diagnosed with at least one neurological disease before the onset of BP. BP was significantly associated with the presence of malignancies (14%; p = 0.017) and stroke (16%; p = 0.009) compared to an age-matched control group. The most common standard medications were beta-blockers, diuretics, and statins. In total, 86% of the patients with type 2 diabetes were taking antidiabetic drugs, especially metformin (82%) and gliptins (51%).

This study showed that BP is associated with stroke and the presence of malignancy compared to the age-matched general population. This study also calls for investigation into the specific role of some drugs as inducing factors for BP.

This study showed that BP is associated with stroke and the presence of malignancy compared to the age-matched general population. This study also calls for investigation into the specific role of some drugs as inducing factors for BP.

Paraneoplastic pemphigus (PNP) is an autoimmune disorder that is almost always linked to an underlying neoplasia. General radiologists are usually not aware of what kind of neoplasia can be associated with PNP. Therefore, this study evaluates the effect of a dermatology lecture on radiologists' neoplasia diagnosis performance.

Two radiologists evaluated thoracoabdominal computed tomography (CT) examination images of 43 patients with PNP in separate reading sessions blinded to each other's assessments. Six months after the first CT image evaluation session, the two radiologists attended a lecture by two dermatologists about PNP, and 6 months later the two radiologists assessed the same CT examinations again.

Statistical analysis showed statistically significant differences in CT sensitivity between the first and the second round of image evaluation for both radiologists (reader 1 p = 0.0313; reader 2 p = 0.0156).

This is the first study to evaluate the effectiveness of a dermatology lecture on diagnostic performance. It is very important for radiologists to be familiar with the particular neoplasms that can be associated with PNP because this can have a direct clinical impact on diagnostic performance.

This is the first study to evaluate the effectiveness of a dermatology lecture on diagnostic performance. It is very important for radiologists to be familiar with the particular neoplasms that can be associated with PNP because this can have a direct clinical impact on diagnostic performance.

Estrogen receptor 1 (ESR1) XbaI polymorphisms may affect breast cancer susceptibility; however, the results of previously published studies are inconsistent. This meta-analysis aimed to investigate the relationship between ESR1 XbaI polymorphism and breast cancer risk. Methods Articles from the PubMed, Embase, Cochrane Library, WoS, Scopus, Wanfang Data, CNKI, CBM and CQVIP databases were systematically searched to determine the association between ESR1 XbaI polymorphism and breast cancer risk. The pooled results were assessed using odds ratios (ORs) and 95% confidence intervals (CIs), followed by subgroup analysis. Results Twenty-two studies involving 12,821 cases and 14,739 control subjects were analyzed. The pooled results indicated that ESR1 XbaI polymorphism may decrease risk of breast cancer in AG vs. AA (co-dominant model OR = 0.88, 95% CI = 0.79-0.97, P = 0.015) and AG + GG vs. AA models (dominant model OR = 0.89, 95% CI = 0.80-0.98, P = 0.022). Subgroup analysis indicated significant associations bsults Twenty-two studies involving 12,821 cases and 14,739 control subjects were analyzed. The pooled results indicated that ESR1 XbaI polymorphism may decrease risk of breast cancer in AG vs. AA (co-dominant model OR = 0.88, 95% CI = 0.79-0.97, P = 0.015) and AG + GG vs. AA models (dominant model OR = 0.89, 95% CI = 0.80-0.98, P = 0.022). Subgroup analysis indicated significant associations between the ESR1 XbaI polymorphism and breast cancer risk were observed in Asian subjects, non-Hardy-Weinberg equilibrium study, post-menopausal status and hospital-based subgroups under the AG vs. AA and AG + GG vs. AA models (all P less then 0.05). Conclusions Our analysis of pooled data indicated that AG genotype in ESR1 XbaI may be a protective factor for breast cancer patients in some subgroups.

To assess the predictive value of SS II (SYNTAX score II) for long-term outcomes in ST-elevated myoarial infarction (STEMI) patients. Source PubMed, EMBASE and Cochrane databases were searched up until September 24, 2021. Two investigators extracted data independently from the relevant articles. A random-effects model was conducted to combine the pooled hazard ratio (HR) or risk ratio (RR) for association between SS II and long term outcomes. PR-957 nmr Principal findings A total of 12 articles (7,195 subjects) were included in the final meta-analyses. Analysis of nine of the articles showed that higher SS II predicted poor long term all-cause mortality among STEMI patients (pooled RRs=4.09,95%CI 3.49-4.80). A similar association of SS II with poor long term mortality was observed when the crude HRs and adjusted HRs were pooled (crude HRs pooled HR=1.07, 95%CI 1.04-1.09; adjusted HRs pooled HR=1.05, 95%CI1.04-1.07). The STEMI patients with higher SS II also showed a higher associated with increased risk of long term mlar association of SS II with poor long term mortality was observed when the crude HRs and adjusted HRs were pooled (crude HRs pooled HR=1.07, 95%CI 1.04-1.09; adjusted HRs pooled HR=1.05, 95%CI1.04-1.07). The STEMI patients with higher SS II also showed a higher associated with increased risk of long term major adverse cardiac events (pooled HR = 1.05, 95% CI 1.02-1.07; pooled RR=2.28, 95%CI2.02-2.57). A consistent association was found for heart failure among STEMI patients. Conclusion Higher SS II predicted poor long term all-cause mortality, major adverse cardia events and heart failure among STEMI patients.Dr. Michael Hill is President of the Canadian Neurology Federation and Director of the Stroke Unit for the Calgary Stroke Program. He is also a professor at the University of Calgary at the Department of Clinical Neurosciences. Dr. Hill has made outstanding contributions to the field of stroke research, particularly through the ESCAPE and ESCAPE-NA1 trials. Dr. Hill was a recipient of the Canadian Society for Clinical Investigation (CSCI) Distinguished Scientist Award in 2021-recognized as an expert and innovative leader in his research.Over the past two years, physician-scientist trainees have persevered in the face of evolving challenges presented by the ongoing coronavirus disease 2019 (COVID-19) pandemic. Research and healthcare institutions across the country continue to feel the impacts of the public health emergency. As scientists and physicians generate evidence to inform the prevention and treatment of COVID-19, physician-scientist trainees in all disciplines have adapted to the changing conditions of their education.Dr. Philippe Campeau is the recipient of the 2021 Canadian Society for Clinical Investigation (CSCI) Joe Doupe Young Investigator Award-given in recognition of his early career achievements as a clinician-scientist and his mentorship to trainees. In honor of his success, this article discusses Dr. Campeau's journey to a career as clinician-scientist and his successes and challenges along the way. In answering these questions, Dr. Campeau shares encouraging insights and advice for clinician-scientist trainees who are building the foundations of their own careers in medicine and research.