[Influence of nutrition, common autoimmune diseases and smoking on the incidence of foot mycoses]. / Einfluss von Ernährung, autoimmunen Volkskrankheiten und Rauchen auf die Erkrankungshäufigkeit von Fußmykosen.

BACKGROUND: Foot mycoses, including onychomycoses, are worldwide infectious diseases. As part of a regional survey using randomly selected residents of in Mecklenburg-Western Pomerania, we investigated the impact of dietary habits, the presence of most frequent autoimmune diseases and current smoking on fungal skin infections in order to reveal potential new risk factors to elucidate potential preventive interventions. OBJECTIVES: The identification of potential new factors that influence the development of mycosis was performed in order to derive possible preventive measures. METHODS: In the Study of Health in Pomerania (SHIP) in Mecklengburg-Western Pomerania, 2523 inhabitants were examined for mycotic lesions and asked about nutritional habits, the presence of atopic dermatitis, allergic rhinitis, psoriasis and smoking habits. RESULTS: In all, 8% of probands were diagnosed with mycosis, 6.5% onychomycosis, 3.7% tinea pedis and 0.2% tinea corporis. Psoriasis, allergic rhinitis and atopic dermatitis and frequent consumption of cooked potatoes, oatmeal and corn flakes, cereals, pasta and rice were significantly associated with tinea pedis. Onychomycosis was positively associated with consumption of cooked potatoes. Cigarette consumption proved protective for tinea pedis and dermatophyte colonization. CONCLUSIONS: The autoimmune disorders psoriasis and atopic dermatitis and allergic rhinitis seem to predispose to foot mycosis. Recalcitrant mycosis should raise the question of diets high in carbohydrates. Nicotine abuse seems to protect against skin mycosis and colonization.

Síndrome de Rett: Análisis molecular del gen MECP2 en pacientes chilenas / Rett syndrome: MECP2 gene molecular analysis in Chilean patients

INTRODUCCIÓN: El síndrome de Rett (RTT) es un trastorno neurológico progresivo caracterizado por producir una regresión del desarrollo psicomotor en niñas previamente sanas. La mayoría de los casos son causados por variantes patogénicas en el gen MECP2, que codifica para la proteína methyl CpG- binding protein 2. OBJETIVO: Describir la frecuencia y el tipo de variantes patogénicas en MECP2 en mujeres chilenas con diagnóstico clínico de RTT. PACIENTES Y MÉTODO: Se invitó a participar en este estudio a mujeres chilenas con sospecha clínica de RTT. Se reunió información clínica mediante un cuestionario. Se analizaron variantes patogénicas en MECP2 mediante el método de secuenciación de Sanger y se utilizó Multiple Ligation-dependant Probe Amplification (MLPA) para la detección de duplicaciones y deleciones. RESULTADO: El estudio incluyó 14 pacientes con sospecha de RTT, de las cuales 8 (57%) pacientes tuvieron variantes patogénicas. Las restantes permanecen sin diagnóstico molecular. CONCLUSIÓN: Variantes patogénicas en MECP2 están presentes en pacientes chilenas con RTT. Es probable que haya otros genes o diagnósticos involucrados en las pacientes sin hallazgos en MECP2. A partir de este trabajo, el diagnóstico molecular está disponible en Chile.

INTRODUCTION: Rett syndrome (RTT) is a progressive neurological disorder characterized by regres sion of psychomotor development in previously healthy girls. Most cases are due to pathogenic va riants in the MECP2 gene which encodes for the methyl CpG-binding protein 2. OBJECTIVE: To des cribe the frequency and type of pathogenic variants in the MECP2 gene in Chilean female patients with clinical diagnosis of RTT. PATIENTS AND METHOD: Chilean women with clinical suspicion of RTT were invited to participate in the study. Clinical data were collected through a questionnaire. MECP2 pathogenic variants were analyzed by Sanger sequencing method and Multiplex Ligation-dependent Probe Amplification (MLPA) was used to detect duplications or deletions. RESULTS: The study in cluded 14 patients with suspected RTT, of which eight (57%) patients had pathogenic variants. The other patients remain without molecular diagnosis. CONCLUSIONS: Pathogenic variants in MECP2 are present in Chilean patients with RTT. It is likely that there are other genes or diagnoses involved in patients without MECP2 findings. As of this study, molecular diagnosis is available in Chile.

Quantitative determination of steroid hormone receptor positive cells in the synovium of patients with rheumatoid arthritis and osteoarthritis: is there a link to inflammation?

BACKGROUND: Steroid hormone receptors such as glucocorticoid receptors, androgen receptors, and oestrogen receptors alpha (ERalpha) and beta (ERbeta) have been identified in synovial cells of patients with rheumatoid arthritis and osteoarthritis. OBJECTIVES: To find a quantitative relationship between the number of receptor positive cells and markers of inflammation, and to compare the two groups of patients with rheumatoid arthritis and osteoarthritis. METHODS: A total of 36 patients with rheumatoid arthritis (n = 17) and osteoarthritis (n = 19) were included, and receptor positive cells and cellular markers of synovial inflammation were quantified by immunohistochemistry and ELISA (interleukin 6 (IL6) and IL8). RESULTS: Patients with rheumatoid arthritis showed a higher degree of histologically determined inflammation compared with those with osteoarthritis. However, synovial density of gluco-corticoid receptor positive (GR+), androgen receptor positive (AR+), ERalpha+ and ERbeta+ cells were not different among patients with rheumatoid arthritis and osteoarthritis. In patients with osteoarthritis, the density of GR+ cells positively correlated with the density of AR+, ERalpha+ and ERbeta+ cells (p = 0.007), which was not observed in patients with rheumatoid arthritis. This indicates positively coupled steroid hormone receptor expression in patients with osteoarthritis but not in those with rheumatoid arthritis. In patients with rheumatoid arthritis, secretion of synovial IL6 and IL8 positively correlated with the density of ERalpha+ and ERbeta+ cells (not with gluco-corticoid receptor and androgen receptor), which was not found in the synovium of patients with osteoarthritis. This indicates that inflammatory factors might up regulate the expression of oestrogen receptors in patients with rheumatoid arthritis, or vice versa. CONCLUSIONS: In patients with osteoarthritis, expression of different steroid receptors is positively coupled, which was not observed in the synovium of patients with rheumatoid arthritis. This uncoupling phenomenon in rheumatoid arthritis might lead to an imbalance of the normal synovial homeostasis.

[Aesthetic dermatology. Botulinumtoxin A and soft tissue augmentation]. / Asthetische Dermatologie. Botulinumtoxin A und Implantatmaterialien.

Younger and younger patients are undergoing aesthetic procedures to achieve "wrinkle-free" aging. This has had great impact on the field of aesthetic dermatology. The rapid development of new indications and filler materials requires a critical approach to the available substances particularly concerning side effects and long-term effects. The quality of the chosen approach depends on the applied filler substance, clear indication the compliance of the patient and the experience of the physician. The growing expectations of patients require a critical analysis of the available therapy options. Botulinum toxin A is one of the preferred treatments for wrinkles secondary to facial expression. In addition there are a variety of biologically inert and completely resorbable filler materials such as collagen and hyaluronic acid and autologous materials such as fat implants or plasma gel available. This article gives an overview about the most common fillers and their use in aesthetic dermatology.

Cowden's disease: clinical and molecular genetic findings in a patient with a novel PTEN germline mutation.

We report a 54-year-old woman with Cowden's disease (CD) who was found to carry a novel germline mutation in the PTEN gene. The mutation (c.334C-->G) introduced a splice donor site within exon 5 that caused the expression of an aberrant transcript lacking 159 nucleotides corresponding to codons 112-164. Clinically, the patient showed multiple benign hamartomatous lesions of the skin, papillomatosis of the lips and oral mucosa, polyposis coli and bilateral fibrocystic disease of the breast. In addition, she developed different types of malignant neoplasms, including bilateral carcinomas of the breast and malignant melanomas of the skin. Molecular genetic analysis of a benign skin hamartoma and an invasive ductal breast carcinoma revealed loss of heterozygosity (LOH) at microsatellite markers on chromosome 10 in the carcinoma but not in the hamartoma. The breast carcinoma additionally carried a somatic TP53 point mutation (c.466C-->G; R156G) that was associated with LOH on 17p and nuclear p53 protein accumulation. Taken together, our findings indicate that benign hamartomas in CD may develop without loss of the second (wild-type) PTEN allele, whereas the pathogenesis of malignant tumours, such as breast carcinomas, appears to require the complete inactivation of Pten as well as further alterations such as the loss of p53-dependent growth control.

Botulinum toxin A in the therapy of mimic facial lines.

In aesthetic medicine, many different methods of skin rejuvenation are available. At the end of the 1980s, the neurotoxin Botulinum toxin A (BT-A) led to a revolution in aesthetic-corrective dermatology for the treatment of mimic facial wrinkles. The toxin is produced by Clostridium botulinum and causes a reversible, selective muscle relaxation that leads to a temporary flattening of the mechanical part of wrinkling without the stigmata of invasive surgery. After two decades of experience in different medical disciplines, there has been remarkable clinical development and progress in research, the identification of new botulinum toxin serotypes, and also innovation in indications and combined modalities. These lead to new and interesting questions. BT-A offers the experienced, critical dermatologist a time-saving, effective, cosmetically satisfactory, non-invasive treatment for mimic facial wrinkles and neck and decollete lines, with only minor side effects. Dermatologists should have a profound anatomical knowledge and should be able to perform all injection techniques to meet the needs of ever more demanding patients and to ensure optimization of patient satisfaction. The following review summarizes the historical development and the mechanism of action of both frequently and rarely used injection techniques with BT-A for the treatment of wrinkles and lines of the upper face, neck and décolleté, and gives an update of different experiences encountered.