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6.
Gut ; 2021 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-33888516

RESUMO

OBJECTIVE: Haemorrhoidal disease (HEM) affects a large and silently suffering fraction of the population but its aetiology, including suspected genetic predisposition, is poorly understood. We report the first genome-wide association study (GWAS) meta-analysis to identify genetic risk factors for HEM to date. DESIGN: We conducted a GWAS meta-analysis of 218 920 patients with HEM and 725 213 controls of European ancestry. Using GWAS summary statistics, we performed multiple genetic correlation analyses between HEM and other traits as well as calculated HEM polygenic risk scores (PRS) and evaluated their translational potential in independent datasets. Using functional annotation of GWAS results, we identified HEM candidate genes, which differential expression and coexpression in HEM tissues were evaluated employing RNA-seq analyses. The localisation of expressed proteins at selected loci was investigated by immunohistochemistry. RESULTS: We demonstrate modest heritability and genetic correlation of HEM with several other diseases from the GI, neuroaffective and cardiovascular domains. HEM PRS validated in 180 435 individuals from independent datasets allowed the identification of those at risk and correlated with younger age of onset and recurrent surgery. We identified 102 independent HEM risk loci harbouring genes whose expression is enriched in blood vessels and GI tissues, and in pathways associated with smooth muscles, epithelial and endothelial development and morphogenesis. Network transcriptomic analyses highlighted HEM gene coexpression modules that are relevant to the development and integrity of the musculoskeletal and epidermal systems, and the organisation of the extracellular matrix. CONCLUSION: HEM has a genetic component that predisposes to smooth muscle, epithelial and connective tissue dysfunction.

8.
Sci Rep ; 11(1): 6210, 2021 03 18.
Artigo em Inglês | MEDLINE | ID: mdl-33737662

RESUMO

Our understanding of pilonidal sinus disease (PSD) is based on a paper published 29 years ago by Karydakis. Since then, surgeons have been taught that hair more easily penetrates wet skin, leading to the assumption that sweating promotes PSD. This postulate, however, has never been proven. Thus we used pilocarpine iontophoresis to assess sweating in the glabella sacralis. 100 patients treated for PSD and 100 controls were matched for sex, age and body mass index (BMI). Pilocarpine iontophoresis was performed for 5 min, followed by 15 min of sweat collection. PSD patients sweated less than their matched pairs (18.4 ± 1.6 µl vs. 24.2 ± 2.1 µl, p = 0.03). Men sweated more than women (22.2 ± 1.2 µl vs. 15.0 ± 1.0 µl in non-PSD patients (p < 0.0001) and 20.0 ± 1.9 µl vs. 11.9 ± 2.0 µl in PSD patients (p = 0.051)). And regular exercisers sweated more than non-exercisers (29.1 ± 2.9 µl vs. 18.5 ± 1.6 µl, p = 0.0006 for men and 20.7 ± 2.3 µl vs. 11.4 ± 1.4 µl, p = 0.0005 for women). PSD patients sweat less than matched controls. Thus sweating may have a protective effect in PSD rather than being a risk factor.


Assuntos
Cabelo/patologia , Seio Pilonidal/patologia , Região Sacrococcígea/patologia , Pele/patologia , Adolescente , Adulto , Índice de Massa Corporal , Estudos de Casos e Controles , Exercício Físico/fisiologia , Feminino , Cabelo/fisiopatologia , Humanos , Iontoforese/métodos , Masculino , Pessoa de Meia-Idade , Agonistas Muscarínicos/farmacologia , Pilocarpina/farmacologia , Seio Pilonidal/etiologia , Seio Pilonidal/fisiopatologia , Região Sacrococcígea/fisiopatologia , Fatores Sexuais , Pele/fisiopatologia , Sudorese/efeitos dos fármacos , Sudorese/fisiologia
9.
J Dtsch Dermatol Ges ; 19(3): 479-494, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33634583

RESUMO

Anogenital and oropharyngeal infections with human papilloma viruses (HPV) are common. Clinically manifest disease may significantly impact quality of life; the treatment of HPV-associated lesions is associated with a high rate of recurrence and invasive neoplasms, such as cervical, anal, vulvar, penile, and oropharyngeal cancers, which are characterized by significant morbidity and mortality. Vaccination against HPV is an effective and safe measure for the primary prevention of HPV-associated lesions, but immunization rates are still low in Germany. The present publication is an abridged version of the German evidence and consensus-based guideline "Vaccination recommendations for the prevention of HPV-associated lesions", which is available on the website of the German Association of the Scientific Medical Societies (AWMF). On the basis of a systematic review with meta-analyses, a representative panel developed and agreed upon recommendations for the vaccination of different populations against HPV. In addition, consensus-based recommendations were developed for specific issues relevant to everyday practice. Based on current evidence and a representative expert consensus, these recommendations are intended to provide guidance in a field in which there is often uncertainty and in which both patients and health care providers are sometimes confronted with controversial and emotionally charged points of view.


Assuntos
Papillomaviridae , Infecções por Papillomavirus , Consenso , Humanos , Infecções por Papillomavirus/prevenção & controle , Qualidade de Vida , Vacinação
11.
ANZ J Surg ; 90(11): 2384, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-33200516
13.
J Dtsch Dermatol Ges ; 18(6): 648-657, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32469472

RESUMO

Perianal dermatitis (anal eczema, perianal eczema) is one of the most common proctological conditions. It may occur as a sequela or a presenting symptom of various proctological, dermatological, allergic or pathogen-induced disorders. The three main types of anal eczema are irritant-toxic, atopic and allergic contact dermatitis. Adequate and successful treatment requires a comprehensive diagnostic workup to determine disease etiology and includes treatment/elimination of causative factors as well as nonpharmacological interventions (avoidance of aggravating factors). In addition, adjuvant topical anti-inflammatory and/or specific symptomatic treatment may be required. The present guidelines contain recommendations for the diagnostic and therapeutic management of perianal dermatitis. Target users of these guidelines are clinicians in the fields of dermatology and proctology, as well as all other specialties involved in the management of patients with perianal dermatitis, both in hospital and office-based settings.


Assuntos
Doenças do Ânus/diagnóstico , Dermatite Alérgica de Contato/diagnóstico , Dermatite Atópica/diagnóstico , Eczema/diagnóstico , Doenças do Ânus/terapia , Dermatite Alérgica de Contato/terapia , Dermatite Atópica/terapia , Eczema/terapia , Alemanha , Humanos
14.
Zentralbl Chir ; 144(4): 364-373, 2019 Aug.
Artigo em Alemão | MEDLINE | ID: mdl-31412415

RESUMO

About 2 - 3 million patients suffer from haemorrhoid disease in Germany each year. Advanced haemorrhoid disease is assumed if an operation is planned. In Germany, approximately 50,000 operations per year are performed for haemorrhoids. Individual therapy and surgery are implemented after proctological examination. A wide variety of surgical procedures are available. These techniques will be described and illustrated. Individual comorbidities such as anticoagulation and will be discussed, together with options for teaching these surgical skills - in times of difficult recruitment.


Assuntos
Hemorroidas , Alemanha , Hemorroidas/cirurgia , Humanos
20.
Dtsch Arztebl Int ; 113(12): 211, 2016 03 25.
Artigo em Inglês | MEDLINE | ID: mdl-27118719
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