Frequency of multiple endocrine neoplasia type 1 in a group of patients with pituitary adenoma: genetic study and familial screening

The purpose of this study it was to evaluate the frequency of Multiple Endocrine Neoplasia type 1 (MEN1) in patients with pituitary adenoma and to perform genetic analysis and familial screening of those individuals afflicted with MEN1. 144 patients with pituitary adenoma at Botucatu Medical School, UNESP-Univ Estadual Paulista, were assessed retrospectively for MEN1 during the years of 2005-2011. The patients were evaluated for the presence of primary hyperparathyroidism (PHP) and enteropancreatic tumors. Genetic analysis was performed for the individuals with clinically diagnosed MEN1. Thirteen patients met the diagnostic criteria for MEN1, but three individuals belong to the same family and they were considered as a single MEN1 event, revealing 7.7 % frequency of MEN1 in this patient group. Genetic analysis showed MEN1 mutations in four index cases: IVS4+1 G>A, IVS3-6 C>T, c.1547insC and a new D180A mutation. One patient did not agree to participate in the genetic study and another one was referred for follow up in other hospital. Only polymorphisms were found in the other individuals, one of which was novel. We identified a high frequency of MEN1 in pituitary adenoma patients. Since PHP is one of the most common MEN1 tumor and patients are mostly asymptomatic, we suggest that all pituitary adenoma patients have their calcium profile analyzed. © 2013 Springer Science+Business Media New York.

CCR5 genotype and plasma ß-chemokine concentration of Brazilian HIV-infected individuals

The 32-bp deletion in the HIV-1 co-receptor CCR5 confers a high degree of resistance to HIV-1 infection in homozygous individuals for the deleted allele and partial protection against HIV-1 during disease progression in heterozygotes. Natural ligands for CCR5, MIP-1alpha, MIP-1ß and RANTES, have been shown to inhibit HIV replication in CD4+ T cells. In the present study, we examined the CCR5 genotype by PCR and the plasma levels of RANTES and MIP-1alpha by ELISA among blood donors (N = 26) and among HIV-1-infected individuals (N = 129). The control group consisted of healthy adult volunteers and HIV-1-infected subjects were an asymptomatic and heterogeneous group of individuals with regard to immunologic and virologic markers of HIV-1 disease. The frequency of the CCR5 mutant allele (delta32ccr5) in this population was 0.032; however, no delta32ccr5 homozygote was detected. These results could be related to the intense ethnic admixture of the Brazilian population. There was no correlation between circulating ß-chemokines (MIP-1alpha, RANTES) and viral load in HIV-infected individuals. RANTES concentrations in plasma samples from HIV+ patients carrying the homozygous CCR5 allele (CCR5/CCR5) (28.23 ng/ml) were higher than in the control samples (16.07 ng/ml; P<0.05); however, this HIV+ patient group (mean 26.23 pg/ml) had significantly lower concentrations of MIP-1alpha than those observed in control samples (mean 31.20 pg/ml; P<0.05). Both HIV-1-infected and uninfected individuals heterozygous for the delta32ccr5 allele had significantly lower concentrations of circulating RANTES (mean 16.07 and 6.11 ng/ml, respectively) than CCR5/CCR5 individuals (mean 28.23 and 16.07 ng/ml, respectively; P<0.05). These findings suggest that the CCR5 allele and ß-chemokine production may affect the immunopathogenesis of HIV-1.

Hearing loss in patients with diabetes mellitus

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

High-Volume Peritoneal Dialysis in Acute Kidney Injury: Indications and Limitations

Background and objectives Peritoneal dialysis is still used for AKI in developing countries despite concerns about its limitations. The objective of this study was to explore the role of high-volume peritoneal dialysis in AM patients in relation to metabolic and fluid control, outcome, and risk factors associated with death.Design, setting, participants, & measurements A prospective study was performed on 204 AKI patients who were assigned to high-volume peritoneal dialysis (prescribed Kt/V=0.60/session) by flexible catheter and cycler; 150 patients (80.2%) were included in the final analysis.Results Mean age was 63.8 +/- 15.8 years, 70% of patients were in the intensive care unit, and sepsis was the main etiology of AKI (54.7%). BUN and creatinine levels stabilized after four sessions at around 50 and 4 mg/dl, respectively. Fluid removal and nitrogen balance increased progressively and stabilized around 1200 ml and -1 g/d after four sessions, respectively. Weekly delivered Kt/V was 3.5 +/- 0.68. Regarding AKI outcome, 23% of patients presented renal function recovery, 6.6% of patients remained on dialysis after 30 days, and 57.3% of patients died. Age and sepsis were identified as risk factors for death. In urine output, increase of 1 g in nitrogen balance and increase of 500 ml in ultrafiltration after three sessions were identified as protective factors.Conclusions High-volume peritoneal dialysis is effective for a selected AKI patient group, allowing adequate metabolic and fluid control. Age, sepsis, and urine output as well as nitrogen balance and ultrafiltration after three high-volume peritoneal dialysis sessions were associated significantly with death. Clin J Am Soc Nephrol 7: 887-894, 2012. doi: 10.2215/CJN.11131111

Actinic cheilitis: Clinical and histological features

Purpose: The purpose of this study was to analyze the clinical and histological features of actinic cheilitis (AC).Patients and Methods: A total of 29 patients with AC were clinically evaluated, and incisional biopsies were performed to confirm the clinical diagnosis. Histological features were analyzed, and dysplasia was classified as mild, moderate, or severe. The chi(2) test was used for the following variables: gender, age, race, and smoking habits. The degree of dysplasia was related to these variables (Fisher's test) to test for independence between them (P <.05).Results: of the patient group, 72.41% were male, 75.86% were overage 40 years, 93.10% were white, and 72.41% were nonsmokers. Clinically, all patients presented with multifocal lesions. The following manifestations were seen: dryness, atrophy, scaly lesions, swelling of the lip, erythema, ulceration, blurred demarcation between the lip vermilion border and the skin, marked folds along the lip vermilion, white spots or plaques, crusts, blotchy areas, and areas of pallor. Keratosis, granulosis, hyperplasia, acanthosis, or atrophy and dysplasia were found in the epithelial tissue; elastosis, inflammatory infiltrate, and vasodilatation were found in the connective tissue. Dysplasia was mild in 10.34% of the patients, moderate in 27.59%, and severe in 62.07%. Absence of sample homogeneity was observed in regard to gender, age, race, and smoking habits. It was not possible to reject the hypothesis of independence between mild, moderate, or severe dysplasia and gender, age, race, and smoking habits.Conclusions: Dryness, atrophy, and scaly lesions were the most common clinical findings observed. Dysplasia, inflammatory infiltrate, and vasodilatation, as well as elastosis, were the most common histological findings observed. Gender, age, race, or smoking habits were not related to the degree of dysplasia in the sample. (c) 2008 American Association of Oral and Maxillofacial Surgeons.

Cognitive Deficits in Machado-Joseph Disease Correlate with Hypoperfusion of Visual System Areas

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

An immunohistochemical study of interleukin-8 (IL-8) in breast cancer

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

A snoring classifier based on heart rate variability analysis

The effect of snoring on the cardiovascular system is not well-known. In this study we analyzed the Heart Rate Variability (HRV) differences between light and heavy snorers. The experiments are done on the full-whole-night polysomnography (PSG) with ECG and audio channels from patient group (heavy snorer) and control group (light snorer), which are gender- and age-paired, totally 30 subjects. A feature Snoring Density (SND) of audio signal as classification criterion and HRV features are computed. Mann-Whitney statistical test and Support Vector Machine (SVM) classification are done to see the correlation. The result of this study shows that snoring has close impact on the HRV features. This result can provide a deeper insight into the physiological understand of snoring. © 2011 CCAL.

Avaliação do perfil de citocinas no plasma de pacientes submetidos a cirurgia sob anestesia inalatória com sevoflurano

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

Estudo dos efeitos da expansão rápida de maxila em pacientes com mordida cruzada posterior tratados com aparelhos de Haas e de Hyrax

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Influence of cone-beam computed tomography image artifacts on the determination of dental arch measurements

Objective: To compare dental plaster model (DPM) and cone-beam computed tomography (CBCT) in the measurement of the dental arches, and investigate whether CBCT image artifacts compromise the reliability of such measurements.Materials and Methods: Twenty patients were divided into two groups based on the presence or absence of metallic restorations in the posterior teeth. Both dental arches of the patients were scanned with the CBCT unit i-CAT, and DPMs were obtained. Two examiners obtained eight arch measurements on the CBCT images and DPMs and repeated this procedure 15 days later. The arch measurements of each patient group were compared separately by the Wilcoxon rank sum (Mann-Whitney U) test, with a significance level of 5% (alpha = .05). Intraclass correlation measured the level of intraobserver agreement.Results: Patients with healthy teeth showed no significant difference between all DPM and CBCT arch measurements (P > .05). Patients with metallic restoration showed significant difference between DPM and CBCT for the majority of the arch measurements (P > .05). The two examiners showed excellent intraobserver agreement for both measuring methods with intraclass correlation coefficient higher than 0.95.Conclusion: CBCT provided the same accuracy as DPM in the measurement of the dental arches, and was negatively influenced by the presence of image artifacts.

Effects of a multimodal exercise program on the functional capacity of Parkinson's disease patients considering disease severity and gender

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

Evaluation of quality of life related to i-131 therapy in patients with well-differentiated thyroid cancer and emphasis in salivary morbidity: a follow up study after treatment

To evaluate the impact of iodine-131 therapy received during childhood and adolescence and correlate it with the quality of life in these patients. Methods: We studied 19 patients diagnosed with cancer in childhood or adolescence who underwent thyroidectomy and supplemental therapy with I-131. We also recruited a control group of healthy subjects with the same demographic parameters. All patients were subjected to a scintigraphy examination of the salivary glands, and were also asked to complete a questionnaire in order to assess their overall quality of life. In addition, a more specific questionnaire for patients with head and neck cancer was also given to all study participants. Results: The quantitative and qualitative analyses of the salivary glands showed functional deficits with greater involvement of the parotid gland for volume, concentration and excretion. The right submandibular gland showed significant changes for volume in the patient group. The questionnaires made it possible to observe significant differences between the patient and control groups for symptoms such as thick saliva, dry mouth and speech problems. Conclusion: In spite of being very effective and widely used, iodine radionuclide therapy is correlated with a lower quality of life in young people.

About the Use of the HdHr Algorithm Group in Integrating the Movement Equation with Nonlinear Terms

This work summarizes the HdHr group of Hermitian integration algorithms for dynamic structural analysis applications. It proposes a procedure for their use when nonlinear terms are present in the equilibrium equation. The simple pendulum problem is solved as a first example and the numerical results are discussed. Directions to be pursued in future research are also mentioned. Copyright (C) 2009 H.M. Bottura and A. C. Rigitano.

Sociodemographic and clinical characteristics, causal factors and evolution of a group of patients with chronic urticaria-angioedema

CONTEXTO E OBJETIVO: Urticária-angioedema crônico é enfermidade freqüente, complexa e multicausal. O objetivo foi estudar as características sociodemográficas, clínicas, os fatores causais, agravantes e a evolução da enfermidade. TIPO DE ESTUDO E LOCAL: Descritivo e prospectivo, realizado no ambulatório de Dermatologia da Faculdade de Medicina de Botucatu, Universidade Estadual Paulista (Unesp). MÉTODOS: Foram avaliados pacientes com diagnóstico de urticária-angioedema crônico através de dados sociodemográficos, anamnese, exames dermatológico, clínico e laboratorial, com ênfase nos fatores causais, agravantes e na evolução da enfermidade. RESULTADOS: 125 pacientes foram incluídos, 95 mulheres e 30 homens. Predominaram mulheres de 30 a 40 anos e homens de 10 a 20 anos. A idade média foi de 35 anos para as mulheres e 32 anos para os homens. Predominaram pacientes de raça branca, residentes em zona urbana e casados. O tempo médio de doença foi de 45,6 meses e de cada lesão foi de 5,6 horas. A metade dos casos tinha surtos diariamente e associação de urticária com angioedema. Não houve horário preferencial de aparecimento dos surtos, mas o noturno foi o horário de piora mais citado. A causa foi esclarecida em 37,6%, predominando as infecções. O estresse foi o agravante mais referido. O tempo médio de acompanhamento foi de 11,7 meses e 60% evoluíram para o controle, 32% melhoraram, 9% mantiveram-se inalterados e um caso piorou. CONCLUSÕES: Urticária-angioedema ocorreu mais em mulheres de meia-idade. A causa foi esclarecida em um terço dos pacientes e metade deles teve controle da doença em aproximadamente um ano.