Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

BACKGROUND: Basal epidermolysis bullosa simplex (EBS) is a hereditary skin blistering disorder resulting in most cases from missense mutations in the keratin 5 (KRT5) or keratin 14 (KRT14) genes. OBJECTIVES: To identify the underlying mutations in different EBS subtypes and correlate genotype and phenotype. METHODS: Mutation analysis was performed in 53 patients with EBS and their families by direct sequencing of the KRT5 and KRT14 genes. RESULTS: We identified 39 different mutations, of which 15 have not been published previously. Three novel deletion/insertion mutations, among them one in-frame duplication, were associated with the rare phenotype of EBS with mottled pigmentation. We identified for the first time a patient with compound heterozygosity for KRT5 mutations causing Dowling-Degos disease and EBS. CONCLUSIONS: Identification of novel mutations and genotype-phenotype correlations in EBS allow improved understanding of disease pathogenesis as well as better patient management.

Weight excess of school materials and its risks factors in South Brazil. A cross sectional study.

AIM: There is little information about weight excess of school materials in Brazil. The aim of this study was to determine the prevalence and risk factors of excess weight of school materials in a private and a public school in the city of Pelotas, Brazil. METHODS: A cross-sectional study was performed to examine students' equipment in both a private and a public school. Demographic data were collected and children were weighed and measured. The types of schoolbag, notebook, snack, and other materials taken to school were identified and weighed separately from Monday to Friday. An excess weight of school material was defined for schoolbags weighing more than 10% of each student's weight. RESULTS: The study included 226 (48.8%) students from a private school and 237 (51.2%) students from a public school. From this sample, 38.2% of the total students carried an excess weight of school materials, 68.5% (155 children) of whom were private school students compared to 9.3% (22 children) of public school students, giving a prevalence ratio (PR) of 7.4 (CI95%, 4.9-11.1). After differentiating the sample in terms of school type, the association between weight excess of school material and school bag type (trolley pack), notebook type (hard back or spiral notebook) and transport of snacks were positively reported. CONCLUSION: Due to the higher income of the families of private school children, the type of school equipment carried was more costly and was the heaviest. These data should be considered in educational campaigns in order to reduce school equipment weight.

Experimental phytophotodermatitis.

BACKGROUND/AIMS: Phytophotodermatitis (PPD) is defined as a phototoxic reaction of the skin after contact with substances derived from plants and subsequent exposure to sunlight. It is a frequent disease in our outpatient clinics during summer because of contact with Tahitian lemon. Our objectives were to experimentally reproduce PPD in rats, to identify whether PPD is induced by minimal exposure periods to sunlight, to find what kinds of lemons and which parts of the lemon (the fruit juice or the peel juice) may trigger the disease; to know whether the use of sunblock prevents the reaction; and to perform light microscopy of the lesions to describe their histology. METHODS: Adult rats (Rattus norwegicus), three in each experiment, were used. After painting the rats with the fruit juice or the peel juice they were exposed to sunlight for 2.5, 5, 7.5, and 10 min. Tahitian and Sicilian lemons were used in the experiments. Biopsies with 3-mm punches of different times of exposure were performed. RESULTS: The peel juice of both lemons reproduced PPD, which was clinically evident after 48 h. When the peel juice was alone applied there was no reaction; moreover, exposure to sunlight alone triggered no reaction. Two and a half minutes of exposure time was sufficient to induce phototoxic reaction, which was time dependent (the longer the exposure the more intense the reaction). Histopathological studies showed epithelial time-dependent vacuolar degeneration. The use of sunblock diminished the intensity of the reaction but did not prevent it. CONCLUSION: PPD can be reproduced in an animal model. It may be caused by the peel juice of Tahitian and Sicilian lemon. Because of an extremely short time of exposure (2.5 min) is sufficient to induce PPD it is necessary to alert the population, of the need for caution when handling lemons, especially outdoors despite using sunblock.

Effect of bone marrow transplantation on the immunolocalization of p53, hMSH2, and hMLH1 proteins on oral mucosa.

OBJECTIVE: Considering that hMSH2, hMLH1 and p53 are important in maintaining genomic stability of the oral mucosa epithelium, the purpose of the present study was to investigate the immunolocalization of these proteins in the epithelium of the oral mucosa of patients submitted to bone marrow transplantation (BMT) compared with controls. MATERIALS AND METHODS: Twenty-one samples of lip biopsies from BMT recipients were retrieved. Twenty samples of normal lower labial mucosa associated with mucocele in non-transplanted patients were included as control group. The streptavidin-biotin complex stain was used to detect the human DNA mismatch repair proteins hMSH2, hMLH1 and p53 protein. RESULTS: The main findings demonstrated that the mean number of suprabasal epithelial cells positive for MSH2 was statistically higher than the control group. The immunostaining of hMLH1 and p53 at the basal and suprabasal epithelial layers were statistically higher in the oral labial mucosa of the BMT patients compared with controls. CONCLUSION: The present study shows that oral epithelial cells of BMT patients show increased immunolocalization of the DNA repair related proteins.

Effects of submaximal exercise with water ingestion on intraocular pressure in healthy human males

The effects of exercise and water replacement on intraocular pressure (IOP) have not been well established. Furthermore, it is not known whether the temperature of the fluid ingested influences the IOP response. In the present study we determined the effect of water ingestion at three temperatures (10, 24 and 38ºC; 600 ml 15 min before and 240 ml 15, 30 and 45 min after the beginning of each experimental session) on the IOP of six healthy male volunteers (age = 24.0 ± 3.5 years, weight = 67.0 ± 4.8 kg, peak oxygen uptake (VO2peak) = 47.8 ± 9.1 ml kg-1 min-1). The subjects exercised until exhaustion on a cycle ergometer at a 60 percent VO2peak in a thermoneutral environment. IOP was measured before and after exercise and during recovery (15, 30 and 45 min) using the applanation tonometry method. Skin and rectal temperatures, heart rate and oxygen uptake were measured continuously. IOP was similar for the right eye and the left eye and increased post-water ingestion under both exercising and resting conditions (P<0.05) but did not differ between resting and exercising situations, or between the three water temperatures. Time to exhaustion was not affected by the different water temperatures. Rectal temperature, hydration status, heart rate, oxygen uptake, carbon dioxide extraction and lactate concentration were increased by exercise but were not affected by water temperature. We conclude that IOP was not affected by exercise and that water ingestion increased IOP as expected, regardless of water temperature

Effects of submaximal exercise with water ingestion on intraocular pressure in healthy human males.

The effects of exercise and water replacement on intraocular pressure (IOP) have not been well established. Furthermore, it is not known whether the temperature of the fluid ingested influences the IOP response. In the present study we determined the effect of water ingestion at three temperatures (10, 24 and 38 degrees C; 600 ml 15 min before and 240 ml 15, 30 and 45 min after the beginning of each experimental session) on the IOP of six healthy male volunteers (age = 24.0 +/- 3.5 years, weight = 67.0 +/- 4.8 kg, peak oxygen uptake (VO2peak) = 47.8 +/- 9.1 ml kg-1 min-1). The subjects exercised until exhaustion on a cycle ergometer at a 60% VO2peak in a thermoneutral environment. IOP was measured before and after exercise and during recovery (15, 30 and 45 min) using the applanation tonometry method. Skin and rectal temperatures, heart rate and oxygen uptake were measured continuously. IOP was similar for the right eye and the left eye and increased post-water ingestion under both exercising and resting conditions (P<0.05) but did not differ between resting and exercising situations, or between the three water temperatures. Time to exhaustion was not affected by the different water temperatures. Rectal temperature, hydration status, heart rate, oxygen uptake, carbon dioxide extraction and lactate concentration were increased by exercise but were not affected by water temperature. We conclude that IOP was not affected by exercise and that water ingestion increased IOP as expected, regardless of water temperature.

[Plantar fibromatosis with marked cutaneous involvement]. / Plantarfibromatose mit ausgedehnter kutaner Beteiligung.

Cutaneous involvement in plantar fibromatosis is very rare. The classical finding are nodules in the plantar arch, which can be detected only with palpation. A 55 year-old man presented with a 3 year history of painful plantar nodules and an ulceration. Histopathology showed a fibroblastic proliferation with a pseudosarcomatous configuration. The immunohistochemistry was positive for vimentin, alpha-actin and desmin, a pattern which characterizes a myofibroblast. Intralesional therapy with corticosteroids did not reduce the lesions. After surgical treatment, the lesions recurred.