Essential role of nuclear factor-kappa B for NADPH oxidase activity in normal and anhildrotic ectodermal dysplasia leukocytes

This work investigated the functional role of nuclear factor-kappa B (NF-kappa B) in respiratory burst activity and in expression of the human phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase genes CYBB, CYBA, NCF1, and NCF2. U937 cells with a stably transfected repressor of NF-kappa B (IKB alpha-S32A/S36A) demonstrated significantly lower superoxide release and lower CYBB and NCF1 gene expression compared with control U937 cells. We further tested Epstein-Barr virus (EBV)-transformed B cells from patients with anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), an inherited disorderof NF-kappa B function. Superoxide release and CYBB gene expression by EDA-ID cells were significantly decreased compared with healthy cells and similar to cells from patients with X-linked chronic granulomatous disease (X91 degrees CGD). NCF1 gene expression in EDA-ID S321 cells was decreased compared with healthy control cells and similar to that in autosomal recessive (A47 degrees) CGD cells. Gel shift assays demonstrated loss of recombinant human p50 binding to a NF-kappa B site 5` to the CYBB gene in U937 cells treated with NF-kappa B inhibitors, repressor-transfected U937 cells, and EDA-ID patients cells. Zymosan phagocytosis was not affected by transfection of U937 cells with the NF-kappa B repressor. These studies show that NF-kappa B is necessary for CYBB and NCF1 gene expression and activation of the phagocyte NADPH oxidase in this model system.

In Vitro Activity of the Antifungal Plant Defensin RsAFP2 against Candida Isolates and Its In Vivo Efficacy in Prophylactic Murine Models of Candidiasis

We show that RsAFP2, a plant defensin that interacts with fungal glucosylceramides, is active against Candida albicans, inhibits to a lesser extent other Candida species, and is nontoxic to mammalian cells. Moreover, glucosylceramide levels in Candida species correlate with RsAFP2 sensitivity. We found RsAFP2 prophylactically effective against murine candidiasis.

Muscular Dystrophy in Dogs: Does the Crossing of Breeds Influence Disease Phenotype?

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Photodynamic therapy for the treatment of buccal candidiasis in rats

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Models Hosts for the Study of Oral Candidiasis

Oral candidiasis is an opportunistic infection caused by yeast of the Candida genus, primarily Candida albicans. It is generally associated with predisposing factors such as the use of immunosuppressive agents, antibiotics, prostheses, and xerostomia. The development of research in animal models is extremely important for understanding the nature of the fungal pathogenicity, host interactions, and treatment of oral mucosa! Candida infections. Many oral candidiasis models in rats and mice have been developed with antibiotic administration, induction of xerostomia, treatment with immunosuppressive agents, or the use of germ-free animals, and all these models has both benefits and limitations. Over the past decade, invertebrate model hosts, including Galleria mellonella, Caenorhanditis elegans, and Drosophila melanogaster, have been used for the study of Candida pathogenesis. These invertebrate systems offer a number of advantages over mammalian vertebrate models, predominantly because they allow the study of strain collections without the ethical considerations associated with studies in mammals. Thus, the invertebrate models may be useful to understanding of pathogenicity of Candida isolates from the oral cavity, interactions of oral microorganisms, and study of new antifungal compounds for oral candidiasis.

Effect of erythrosine- and LED-mediated photodynamic therapy on buccal candidiasis infection of immunosuppressed mice and Candida albicans adherence to buccal epithelial cells

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

CHROMOSOME-STUDIES IN MALES AFFECTED BY DUCHENNE OR BECKER MUSCULAR-DYSTROPHY

We studied cytogenetically 48 male patients with Duchenne or Becker muscular dystrophy. All of them showed normal X chromosomes. Fragility of Xp21 was investigated in 1400 G-banded chromosomes of 28 patients and only one break was observed at this band (0.07%). This low frequency of breakage excludes Xp21 as a fragile site in these patients.

Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia microphthalmia, and genitourinary anomalies: nosology of goltz-gorlin syndrome versus eec syndrome

We report on two unrelated Brazilian girls born to normal and nonconsanguineous parents and presenting ectodermal dysplasia, ectrodactyly, clefting, tear duct anomalies, and micro/anophthalmia. The clinical picture presented by these patients suggests the diagnosis of Goltz-Gorlin (Focal dermal hypoplasia) syndrome and EEC syndrome.

Overlay removable partial dentures for a patient with ectodermal dysplasia: A clinical report

The orofacial characteristics of ectodermal dysplasia include anodontia or hypodontia, hypoplastic conical teeth, underdevelopment of the alveolar ridges, frontal bossing, a depressed nasal bridge, protuberant lips, and hypotrichosis. Patients with this disease often need complex prosthetic treatment. The options for a definitive treatment plan may include fixed, removable, or implant-supported prostheses, singly or in combination. However, financial constraints and other priorities can prevent patients from choosing the most desirable treatment. This clinical report describes the diagnosis and treatment of ectodermal dysplasia in an 18-year-old man. The treatment included interim removable partial dentures fabricated to establish an acceptable therapeutic occlusal vertical dimension, followed by definitive overlay removable partial dentures and composite restorations.

Photodynamic therapy of oral candidiasis hi hiv-positive patients

The conventional treatments for Candidiasis include therapies that promote serious side effects to patients. Recent research indicates the use of red emission laser associated with a blue photosensitizer as a current method for microbial reduction. This study aimed to evaluate the effectiveness of Photodynamic Therapy in the treatment of oral candidiasis in HIV patients. The response to treatment by the photodynamic therapy has been demonstrated successfully in 100% of the total sample, as in the 7th and 21st days, confirmed he complete absence of clinical and cytological lesions. This therapy is enhanced by its easy applicability and no adverse side effects making it an alternative method of effective recommended treatment.

Involvement of organic systems in golden retriever X-linked muscular dystrophy

Duchenne muscular dystrophy is a lethal genetic disease characterized by progressive muscle degeneration that usually had been used the Golden Retriever as a model for studying the disease (GRMD - Golden Retriever Muscular Dystrophy). A total of 16 male dystrophic Golden Retrievers dogs between 5 to 51 months of age were examined in the present study. The animals were classified as dystrophic according to two simultaneous complementary criteria: genotypic analysis and serum creatine kinase levels. The macroscopic abnormalities of the different organs and tissues and histopathological features were described using hematoxylin-eosin. The lesions in the skeletal muscles associated with the digestive problems resulted in cachexia with different intensities in all the dystrophic dogs. Cardiac muscle involvement was found in 87,5% of the GRMD dogs resulting, however, in cardiac failure in only 18,8% of the animals. The musculature of the diaphragm was hypertrophic in all affected animals resulting in progressive respiratory muscle weakness and at later stages in respiratory failure (81,25%). The liver abnormalities found in dystrophic dogs were originated mainly from heart disease and developed progressively. Hyperemia of mucosa and granular material indicated changes in the functioning and emptying of bladder. The germinative lineage cells presented moderate to severe degeneration probably due to degeneration of the scrotum and cremaster muscle which prevented the proper thermo-regulation of the testicle. Our results highlight the fact that there is significant impairment of the cardiac, respiratory and skeletal muscle systems in GRMD dogs since the age of five months. In addition, significant alterations of the gastrointestinal tract, urinary and reproductive systems are indicating the presence of degenerative lesions in the smooth musculature.

Evaluation of intracellular calcium in golden retriever muscular dystrophy

The present study had the objective of evaluating calcium accumulations in muscle fibers and their correlation with the canine muscular dystrophy. After the deaths of the animals (13 dystrophic and 3 non-dystrophic), samples of the skeletal muscles were collected. The material was stained with hematoxylin-eosin, Gomori's modified trichrome and alizarin red S technique (pH 4.3). The histopathological changes were analyzed and the proportions of calcium-positive (CPF) and negative muscle fibers were evaluated. Histopathological changes such as muscle fiber diameter changes, necrosis, hyalinization, presence of inflammatory infiltrate and fatty atrophy were identified in all the dystrophic muscles. Statistically significant differences in numbers of CPF between dystrophic muscles and non-dystrophics were observed for the masseter (6%), brachial biceps (5%) and triceps, sartorius and femoral biceps (4%) muscles. The identifying calcium is of interest as a parameter for helping in diagnostic screening.

Radiographic study of patients with ectodermal dysplasia and partial

Aim: To investigate the association between gender and type of cleft with hypodontia and to verify if the presence of the cleft interferes with hypodontia of one or more type of teeth in patients with ectodermal dysplasia attending the Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of Sγo Paulo (USP). Materials and Methods: Panoramic radiographs of 54 patients of both genders (29 males, 25 females), from the files of the oral radiology sector of HRCA/USP, presenting with ectodermal dysplasia and cleft lip and/or palate were evaluated by radiographic observation of hypodontia of one or more types of teeth. Statistical Analysis: We performed descriptive statistics and statistical analysis by Fisher test. Results: Hypodontia was observed in 50% of females and 50.88% of males; 50% for cleft palate and 50.59% for complete cleft lip and palate. Only 22.22% of patients with cleft palate and 6.67% with complete cleft lip and palate presented with hypodontia of one type of teeth, whereas 77.78% of cases with cleft palate and 93.33% with complete cleft lip and palate displayed hypodontia of more than one type of teeth. Conclusion: Based on the present methodology, there were no statistically significant differences in hypodontia of one or more types of teeth between genders or types of cleft.