Expression of interferon-gamma, interferon-alpha and related genes in individuals with Down syndrome and periodontitis

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

Expression of the Interleukin-10 Signaling Pathway Genes in Individuals With Down Syndrome and Periodontitis

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

Nutritional assessment of hospitalized HIV-infected patients by the phase angle z-score measurement

Background: This study analyzed the phase-angle (PA) values of hospitalized HVI-infected patients by comparing them with those reported for a healthy population and investigated their relation with nutritional parameters.Methods: This is a cross-sectional study including 101 hospitalized patients diagnosed with HIV infection and evaluated by bioimpedance, anthropometry and biochemical tests. The phase angle values, weight loss percentage (%WL), body mass index (BMI), arm muscle circumference (AMC), tricipital skinfold (TSF), body fat percentage (%BF) and albumin were considered. In order to compare with values for the healthy population, the PA z-score of the patients under study was calculated. Spearman's correlation and the multiple linear regression model were used to identify nutritional parameters associated with the PA z-score.Results: The patients showed a mean PA z-score of -2.6 +/- 1.5, and only 6.6% of them with a positive value. The PA z-score values correlated with %WL (r = -0.51; p < 0.0001), albumin (r = 0.49; p < 0.0001), BMI (r = 0.58; p < 0.0001), AMC (r = 0.41; p < 0.0001), TSF (r = 0.47; p < 0.001) and %BF (r = 0.48, p < 0.0001). In multiple analysis %WL (p = 0.008), albumin (p = 0.01), AMC (p < 0.0001) and %BF (p = 0.0003) remained associated with the score.Conclusions: Low PA z-score values were observed, suggesting a worse clinical prognosis for the patients. The inclusion of the PA z-score as a nutritional indicator during care provision to HIV-infected patients is recommended. (Nutr Hosp. 2012;27:771-774) DOI:10.3305/nh.2012.27.3.5684

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic Mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. Methods: We performed direct sequence analysis of interferon regulatory factor 6 exons oil samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. Results: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. Conclusion: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. Oil the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect oil interferon regulatory factor 6 function. Genet Med 2009:11(4):241-247.

PCR associated with agar gel immunodiffusion assay improve caprine arthritis-encephalitis (CAEV) control

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

Different exercise protocols improve metabolic syndrome markers, tissue triglycerides content and antioxidant status in rats

Background: An increase in the prevalence of obesity entails great expenditure for governments. Physical exercise is a powerful tool in the combat against obesity and obesity-associated diseases. This study sought to determine the effect of three different exercise protocols on metabolic syndrome and lipid peroxidation markers and the activity of antioxidant enzymes in adult Wistar rats (120 days old).Methods: Animals were randomly divided into four groups: the control (C) group was kept sedentary throughout the study; the aerobic group (A) swam1 h per day, 5 days per week, at 80% lactate threshold intensity; the strength group (S) performed strength training with four series of 10 jumps, 5 days per week; and the Concurrent group (AS) was trained using the aerobic protocol three days per week and the strength protocol two days per week.Results: Groups A and S exhibited a reduction in body weight compared to group C. All exercised animals showed a reduction in triglyceride concentrations in fatty tissues and the liver. Exercised animals also exhibited a reduction in lipid peroxidation markers (TBARS) and an increase in serum superoxide dismutase activity. Animals in group A had increased levels of liver catalase and superoxide dismutase activities.Conclusions: We concluded that all physical activity protocols improved the antioxidant systems of the animals and decreased the storage of triglycerides in the investigated tissues.

Metabolic syndrome markers in wistar rats of different ages

In recent decades, metabolic syndrome has become a public health problem throughout the world. Longitudinal studies in humans have several limitations due to the invasive nature of certain analyses and the size and randomness of the study populations. Thus, animal models that are able to mimic human physiological responses could aid in investigating metabolic disease. Thus, the present study was designed to analyze metabolic syndrome markers in albino Wistar rats (Rattus norvegicus) of different ages. The following parameters were assessed at two (young), four (adult), six (adult), and twelve (mature) months of age: glucose tolerance (glucose tolerance test); insulin sensitivity (insulin tolerance test); fasting serum glucose, triglycerides, total cholesterol, HDL cholestero, and LDL cholesterol concentrations; glucose uptake in isolated soleus muscle; and total lipid concentration in subcutaneous, mesenteric, and retroperitoneal adipose tissue. We found that aging triggered signs of metabolic syndrome in Wistar rats. For example, mature rats showed a significant increase in body weight that was associated. In addition, mature rats showed an increase in the serum concentration of triglycerides, total cholesterol, and LDL cholesterol, which is characteristic of dyslipidemia. There was also an increase in serum glucose compared with the younger groups of animals. Therefore, aging Wistar rats appear to be an interesting model to study the changes related to metabolic syndrome.

Role of PKC and CaV1.2 in Detrusor Overactivity in a Model of Obesity Associated with Insulin Resistance in Mice

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

Oral colonization by yeasts in hiv-positive patients in Brazil

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

Treatment of snoring and sleep apnea syndrome with a removable mandibular advancement device in patients without TMD

INTRODUCTION: Among the sleep disorders reported by the American Academy of Sleep, the most common is obstructive sleep apnea-hypopnea syndrome (OSAHS), which is caused by difficulties in air passage and complete interruption of air flow in the airway. This syndrome is associated with increased morbidity and mortality in apneic individuals. OBJECTIVE: It was the objective of this paper to evaluate a removable mandibular advancement device as it provides a noninvasive, straightforward treatment readily accepted by patients. METHODS: In this study, 15 patients without temporomandibular disorders (TMD) and with excessive daytime sleepiness or snoring were evaluated. Data were collected by means of: Polysomnography before and after placement of an intraoral appliance, analysis of TMD signs and symptoms using a patient history questionnaire, muscle and TMJ palpation. RESULTS: After treatment, the statistical analysis (t-test, and the before and after test) showed a mean reduction of 77.6% (p=0.001) in the apnea-hypopnea index, an increase in lowest oxyhemoglobin saturation (p=0.05), decrease in desaturation (p=0.05), decrease in micro-awakenings or EEG arousals (p=0.05) and highly significant improvement in daytime sleepiness (p=0.005), measured by the Epworth Sleepiness Scale. No TMD appeared during the monitoring period. CONCLUSION: The oral device developed in this study was considered effective for mild to moderate OSAHS.

Gastric cryptosporidiosis as a clue for the diagnosis of the acquired immunodeficiency syndrome

Infecções oportunistas do trato gastrointestinal constituem ameaça à população crescente de portadores de imunossupressão. O comprometimento do estômago por Cryptosporidium é incomum. Quando identificado no exame histopatológico da mucosa gástrica, é mandatória a investigação do estado imunológico do hospedeiro. São apresentados os dados clinicopatológicos e endoscópicos de uma paciente de 64 anos com gastrite erosiva associada à infecção por Cryptosporidium. O encontro deste agente oportunista no exame histopatológico da mucosa gástrica foi fundamental para esclarecer a doença de base da paciente, que era a síndrome da imunodeficiência adquirida.

Avaliação da qualidade de vida de mulheres com HIV/AIDS através do HAT-QoL

Com objetivo de avaliar qualidade de vida entre mulheres portadoras de HIV/AIDS, aplicou-se o HIV/AIDS ­ Quality of Life test (HAT-QoL), instrumento específico para indivíduos infectados pelo HIV. Compõe-se de 42 questões e divide-se em nove domínios com questões sobre diversos aspectos de vida dos portadores. A escala foi submetida à tradução reversa e pré-teste. Sua forma definitiva foi aplicada entre 73 mulheres com HIV/AIDS. Os resultados, após análise estatística, indicaram que os domínios mais comprometidos foram: Preocupações financeiras, Preocupação com sigilo sobre a infecção, Atividades sexuais e Preocupações com a saúde. Esses resultados foram atribuídos ao fato das mulheres apresentarem, além da infecção, uma situação sócio-econômica precária que, provavelmente, também interferiu negativamente em sua qualidade de vida. Concluímos que a escala HAT-QoL foi adequada para a população de mulheres portadoras de HIV deste estudo, apesar de ser originária de uma cultura diferente da brasileira, já que sua aplicação produziu resultados semelhantes aos da literatura internacional.

Vinte anos de assistência a pessoas vivendo com HIV/AIDS no Brasil: a perspectiva de profissionais da saúde

O objetivo do estudo é descrever os significados atribuídos por profissionais de saúde à sua experiência de cuidar de pessoas com HIV/AIDS. Os dados foram coletados em entrevistas com 10 profissionais da saúde, em diferentes instituições paulistas. Três temas emergiram da análise dos dados: (a) o cenário da assistência ao paciente com HIV/AIDS; (b) relacionamento com o paciente; (c) aspectos éticos nesse cuidado. A despeito dos reconhecidos avanços na assistência a esse paciente, os achados revelam a persistência de comportamentos discriminatórios, relacionados a sentimentos de insegurança e medo do contágio, entre os profissionais nos serviços e hospitais gerais. O preparo específico para atender os pacientes estaria mais voltado aos profissionais dos centros especializados para a assistência ao HIV/AIDS, resultando em dificuldades na integração da assistência a esses pacientes nos demais serviços do SUS. Esses dados remetem aos aspectos da formação profissional na área da saúde como um todo, levando à reflexão sobre as competências que se espera dos profissionais da saúde em cuidar e relacionar-se com pessoas com HIV/AIDS, assim como sobre o impacto dessa realidade na prevenção da doença.

X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome

We describe a case of X monosomy associated with a maternally inherited t(13;14) Robertsonian translocation in a girl with Turner syndrome. The girl's X chromosome was demonstrated to be maternally inherited, ruling out the hypothesis that the translocation exerted an interchromosomal effect on the origin of the monosomy. Chromosomes 13 and 14 showed biparental inheritance.

CYTOGENETIC EVIDENCE OF INVOLVEMENT OF CHROMOSOME REGION-15Q12 AND REGION-12Q15 IN CONDITIONS WITH ASSOCIATED OVERGROWTH

Syndromes with associated overgrowth are poorly understood. Besides their mode of inheritance, nothing is known regarding the basic genetic alterations that lead to their abnormal phenotypic manifestations. The chromosome localization of the genes involved remains unknown for this group of syndromes, with the only exception being the Wiedemann-Beckwith syndrome.