994 resultados para Agammaglobulinemia -- etiology


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Temporomandibular disorders is a collective term used to describe a number of related disorders involving the temporomandibular joints, masticatory muscles and occlusion with common symptoms such as pain, restricted movement, muscle tenderness and intermittent joint sounds. The multifactorial TMD etiology is related to emotional tension, occlusal interferences, tooth loss, postural deviation, masticatory muscular dysfunction, internal and external changes in TMJ structure and the various associations of these factors. The aim of this study was to evaluate the prevalence of the relationship between signs of psychological distress and temporomandibular disorder in university students. A total 150 volunteers participated in this study. They attended different courses in the field of human science at one public university and four private universities. TMD was assessed by the Research Diagnostic Criteria (RDC) questionnaire. Anxiety was measured by means of a self-evaluative questionnaire, Spielberger's Trait-State anxiety inventory, to evaluate students'state and trait anxiety. The results of the two questionnaires were compared to determine the relationship between anxiety levels and severity degrees of chronic TMD pain by means of the chi-square test. The significance level was set at 5%. The statistical analysis showed that the TMD degree has a positive association with state-anxiety (p = 0.008; p < 0.05) and negative with trait-anxiety (p = 0.619; p < 0.05). Moreover a high TMD rate was observed among the students (40%). This study concluded that there is a positive association between TMD and anxiety.

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Lymphoma is among the most frequent canine neoplasia and share many similarities with human non-Hodgkin's lymphoma in respect of etiology, epidemiology, clinical, morphological and immunophenotipical aspects. Human classification schemes have been used in canine lymphoma. The aim of this work was apply Kiel, Working Formulation and Fournel-Fleury's et al. (1994) classification in Fine Needle Aspiration (FNA) cytology matherial. According to Kiel scheme 61.02% (36 cases) were high-grade lymphomas and 38.98% (23 cases) low grade. The Working Formulation, showed 11.86% (7 cases) of low grade, 61.02% (36 cases) intermediary grade and 27.12% (16 cases) high grade. In Fournel-Fleury's protocol revealed a predominance of high-grade lymphoma, with 61.02% (36 cases) over 38.98% (23 cases) of low grade. In conclusion, FNA can be used as a diagnostic method and in canine lymphoma cytological classification. Kiel's system showed the best results, once is based on cytologic basis.

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Background: This study constitutes a clinical and genetic study of all newborn and stillborn infants with birth defects seen in a period of one year in a medical school hospital located in Brazil. The aims of this study were to estimate the incidence, causes and consequences of the defects. Methods. For all infants we carried out physical assessment, photographic records, analysis of medical records and collection of additional information with the family, besides the karyotypic analysis or molecular tests in indicated cases. Result: The incidence of birth defects was 2.8%. Among them, the etiology was identified in 73.6% (ci95%: 64.4-81.6%). Etiology involving the participation of genetic factors single or associated with environmental factors) was more frequent 94.5%, ci95%: 88.5-98.0%) than those caused exclusively by environmental factors (alcohol in and gestational diabetes mellitus). The conclusive or presumed diagnosis was possible in 85% of the cases. Among them, the isolated congenital heart disease (9.5%) and Down syndrome (9.5%) were the most common, followed by gastroschisis (8.4%), neural tube defects (7.4%) and clubfoot (5.3%). Maternal age, parental consanguinity, exposure to teratogenic agents and family susceptibility were some of the identified risk factors. The most common observed consequences were prolonged hospital stays and death. Conclusions: The current incidence of birth defects among newborns and stillbirths of in our population is similar to those obtained by other studies performed in Brazil and in other underdeveloped countries. Birth defects are one of the major causes leading to lost years of potential life. The study of birth defects in underdeveloped countries should continue. The identification of incidence, risk factors and consequences are essential for planning preventive measures and effective treatments. © 2011 Fett-Conte et al; licensee BioMed Central Ltd.

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The Patellofemoral Pain Syndrome (PFPS), has a multifactorial etiology and affects approximately 7 to 15% of the population, mostly women, youth, adults and active persons. PFPS causes anterior or retropatelar pain that is exacerbated during functional motor gestures, such as up and down stairs or spending long periods of time sitting, squatting or kneeling. As the diagnostic evaluation of this syndrome is still indirect, different mechanisms and methodologies try to make a classification that distinguishes patients with PFPS in relation to asymptomatic. Thereby, the purpose of this investigation was to determine the characteristics of the electromyographic (EMG) signal in the frequency domain of the vastus medialis oblique (VMO) and vastus lateralis (VL) in patients with PFPS, during the ascent of stairs. 33 young women (22 control group and 11 PFPS group), were evaluated by EMG during ascent of stairs. The VMO mean power frequency (MPF) and the VL frequency 95% (F95) were lower in symptomatic individuals. This may be related to the difference in muscle recruitment strategy exerted by each muscle in the PFPS group compared to the control group.

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Background: Low birth weight (LBW), defined as birth weight less than 2500 g, has a complex etiology and may be a result of premature interruption of pregnancy or intrauterine growth restriction. The objective of this study was to provide information on determinants of LBW and contribute to the understanding of the problem in Brazil. Methods. A case-control study was conducted in Botucatu city, SP state, Brazil. The study population consisted of 2 groups with 860 newborns in each group as follows: low weight newborns (LWNB) and a control group (weight ≤ 2500 g). Secondary data from 2004 to 2008 were collected using the Live Birth Certificate (LBC) and records from medical charts of pregnant women in Basic Health Units (BHU) and in the Public University Hospital (UH). Variables were as follows: maternal socio-demographic characteristics, pregnancy and birth conditions including quality of prenatal care according to 3 criteria. They were based on parameters established by the Ministry of Health (MH), one of them, the modified Kessner Index. The multivariable analysis by logistic regression was used to evaluate the association between variables and LBW. Results: According to the analysis, the factors associated with LBW were as follows: prematurity (OR = 56.98, 95% CI 29.52-109.95), twin pregnancy (OR = 20.00, 95% CI 6.25-100.00), maternal smoking (OR = 2.12, 95% CI 1.33-3.45), maternal malnourishment (OR = 2.30, 95% CI 1.08-5.00), maternal obesity (OR = 2.30, 95% IC 1.18-4.48), weight gain during pregnancy less than 5 kg (OR = 2.63, 95% CI 1.35-5.00) and weight gain during pregnancy more than 15 kg (OR = 2.26, 95% CI 1.16-4.41). Adequacy of prenatal care visits adjusted to gestational age was less frequent in the LBW group than in the control group (68.7% vs. 80.5%, x 2 p < 0.001). According to the modified Kessner Index, 64.4% of prenatal visits in the LWNB group were adequate. Conclusion: LWNB are a quite heterogeneous group of infants concerning their determinants and prevention actions against LBW and the follow-up of these infants have also been very complex. Therefore, improvement in the quality of care provided should be given priority through concrete actions for prevention of LBW. © 2012 Fonseca et al; licensee BioMed Central Ltd.

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Background Post-transplant anemia is multifactorial and highly prevalent. Some studies have associated anemia with mortality and graft failure. The purpose of this study was to assess whether the presence of anemia at 1 year is an independent risk factor of mortality and graft survival. Methods All patients transplanted at a single center who survived at least 1 year after transplantation and showed no graft loss (n = 214) were included. Demographic and clinical data were collected at baseline and at 1 year. Patients were divided into two groups (anemic and nonanemic) based on the presence of anemia (hemoglobin<130 g/l in men and 120 g/l in women). Results Baseline characteristics such as age, gender, type of donor, CKD etiology, rejection, andmismatches were similar in both groups. Creatinine clearance was similar in both anemic and nonanemic groups (69.32 ± 29.8 × 75.69 ± 30.5 ml/mim; P = 0.17). A Kaplan- Meier plot showed significantly poorer death-censored graft survival in the anemic group, P = 0.003. Multivariate analysis revealed that anemic patients had a hazard ratio for the graft loss of 3.85 (95% CI: 1.49-9.96; P = 0.005). Conclusions In this study, anemia at 1 year was independently associated with death-censored graft survival and anemic patients were 3.8-fold more likely to lose the graft. © 2010 Springer Science+Business Media, B.V.

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Introduction: The autologous serum skin test (ASST) may suggest an autoimmune etiology in chronic urticaria (CU). A new laboratory technique called basophil activation test (BAT) has been currently employed for its diagnosis. Objective: To analyze ASST in relation to BAT as well as to evaluate interleukin 3 (IL3) receptors (CD123) and non-specific immunoglobulin G (IgG) autoantibodies bound to basophils in patients with chronic urticaria. Methods: We studied 33 adults with CU and mean age of 42.5 + 14 years. After stimulation by serum from patients with CU, CD63 expression on basophils from one atopic donor was analyzed by flow cytometry. Furthermore, we investigated CD123 and IgG autoantibody expressions. Results: The odds ratio (OR) between ASST and BAT was 1.00 (95% confidence interval [CI]: 0.22 to 4.5). The ASST for autoimmune CU diagnosis showed an accuracy of 54.5%, sensitivity of 66%, specificity of 33%, positive predictive value of 63%, and negative predictive value of 36%. There was no statistical difference between the studied groups as to mean non-specific IgG and CD123 expressions (for a p < 0.05). Discussion: This study demonstrated that ASST has low accuracy in the diagnosis of autoimmune CU. Concerning other analyzed aspects, there was no statistical difference between positive ASST and negative ASST. Conclusions: Due to insufficient studies in this area and the relevance of this issue, further investigation is required.

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Background. Hydatidiform mole (HM) is characterized by abnormal proliferation of human trophoblast with producers functioning tissues of human chorionic gonadotropin. It can evolve with ovarian cysts tecaluteínicos, hypertension of pregnancy or hyperthyroidism. The incidence of HM is variable and its etiology poorly known, associated with nutritional factors, environmental, age, parity, history of HM, oral contraceptives, smoking, consanguinity or defects in germ cells. There is no reference in literature on HM resulting from sexual violence, objective of this report. Method. Description of two cases of HM among 1146 patients with pregnancy resulting from sexual violence treated at Hospital Pérola Byington, São Paulo, from July 1994 to August 2011. Results. The cases affected young, white, unmarried, low educated and low parity women. Sexual violence was perpetrated by known offenders unrelated to the victims, under death threat. Ultrasound and CT of the pelvis showed bulky uterus compatible with HM without myometrial invasion. One case was associated with theca lutein cysts. The two cases were diagnosed in the second trimester of pregnancy and evolved with hyperthyroidism. There was no hypertension, disease recurrence, metastasis or sexually transmitted infection. Conclusion. The incidence of HM was 1:573 pregnancies resulting from rape, within the range estimated for Latin American countries. Trophoblastic material can be preserved to identify the violence perpetrator, considering only the paternal HM chromosomes. History of sexual violence should be investigated in cases of HM in the first half of adolescence and women in a vulnerable condition. © 2012 Drezzet et al; licensee BioMed Central Ltd.

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Pneumonia is an infectious disease with great morbidity and mortality worldwide. According to the current guidelines recommendations the authors reviewed the treatment of community-acquired pneumonia (CAP) and health care-associated pneumonia (HCAP). In this paper will be also presented data about etiology, clinics and diagnostic tools. © Copyright Moreira Jr. Editora.

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Newborn infants exposed to preeclampsia (PE) present increased short-term morbidity, mainly respiratory diseases such as respiratory distress syndrome and bronchopulmonary dysplasia. Gastrointestinal problems are also frequent, although a higher risk of necrotizing enterocolitis has not been confirmed. These problems could be related not just to PE itself but also to prematurity or intrauterine growth restriction, which frequently occur in this maternal disease. Other findings, however, seem to be due to the direct effect of the maternal disease; these findings include an increased frequency of neutropenia and thrombocytopenia and a lower incidence of cerebral disorders, such as periventricularintraventricular hemorrhage and cerebral palsy. The evaluation of long-term outcome shows increasing evidence that PE has important implications for the future health of the mother and her child, suggesting that PE is not a simple gestational disorder but a clinical syndrome with an unclear etiology, a genetic component, and a complex pathophysiology. This syndrome involves important maternal and fetal vascular alterations that can persist and cause diseases in later life. The divergence in results on outcomes for children exposed to PE could, in part, be due to methodological differences in the studies, most of which are retrospective case-control studies. Better evidence on prognosis is obtained from cohort studies. Even in the cohort studies, differences in patient characteristics and severity of maternal disease, as well as sample size, follow-up time, and main outcome measures certainly contribute to the variability in results reported in the literature. © 2012 by the American Academy of Pediatrics. All rights reserved.

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PURPOSE: To assess the occurrence of metabolic syndrome (MetS) in postmenopausal breast cancer survivors. METHODS: A total of 158 breast cancer survivors were included in this cross-sectional study. Eligibility criteria were: women with amenorrhea >12 months and age ≥45 years, treated for breast cancer and no metastasis for at least five years. Clinical history and anthropometric indicator data (body mass index (BMI), and waist circumference, (WC) were collected. Biochemical parameters, including total cholesterol, HDL, LDL, triglycerides (TG), glucose and C-reactive protein (CRP), were measured. MetS was diagnosed as the presence of at least three of the following diagnostic criteria: WC>88 cm, blood pressure≥130/85 mmHg, triglycerides≥150 mg/dl, HDL <50 mg/dL,and glucose≥100 mg/dL. The Student's t-test and χ 2 test were used for statistical analysis. RESULTS: The mean age of breast cancer survivors was 63.1±8.6 years, with a mean follow-up of 9.1±4.0 years. MetS was diagnosed in 48.1% (76/158) and the most prevalent diagnostic criterion was abdominal obesity (WC>88 cm), affecting 54.4% (86/158) of the women. The patients without MetS had a longer follow-up compared those with MetS (p<0.05). Regarding the current BMI, PN average, those without MetS were overweight, and those with MetS were obese (p<0.05). Among the latter, comparison of BMI at the time of cancer diagnosis and current BMI (27.8±5.4 versus 33.4±5.4 kg/m2) showed a significant weight gain (p<0.05). Mean CRP values were higher in women with MetS (p<0.05). In the comparison of tumor characteristics and cancer treatments there was no difference between groups (p>0.05). CONCLUSION: Postmenopausal breast cancer survivors had a higher risk of developing metabolic syndrome and central obesity.

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Stem canker and black scurf diseases of potatoes are caused by the basidiomycetous fungus Tanatephorus cucumeris (ana-morphic species complex Rhizoctonia solani). Tese diseases have worldwide distribution wherever potato is grown but their etiology varies depending on the predominance of distinct R. solani anastomosis groups (AGs) in a particular area. Within the species complex, several AGs have been associated with stem canker or black scurf diseases, including AG-1, AG-2-1, AG-2-2, AG-3, AG-4, AG-5 and AG-9. Tis article reports on the most comprehensive population-based study, providing evidence on the distribution of R. solani AGs in Colombian potato fields. A total of 433 isolates were sampled from the main potato cropping areas in Colombia from 2005 to 2009. Isolates were assigned to AGs by conventional PCR assays using specific primers for AG-3, sequencing of the ITS-rDNA and hyphal interactions. Most of the isolates evaluated were assigned to AG-3PT (88.45%), and a few to AG-2-1 (2.54%). Te remaining isolates were binucleate Rhizoctonia (AG-A, E, and I). Pathogenicity tests on the stems and roots of different plant species, including the potato, showed that AG-3PT affects the stems of solanaceous plants. In other plant species, damage was severe in the roots, but not the stems. AG-2-1 caused stem canker of Solanum tuberosum cv. Capiro and in R. raphanistrum and B. campestris subsp. Rapa plantlets and root rot in other plants. Te results of our study indicated that R. solani AG-3PT was the principal pathogen associated with potato stem canker and black scurf diseases of potatoes in Colombia.

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Background: Melanoacanthoma (MA) has been described in the oral mucosa as a solitary lesion or, occasionally, as multiple lesions. MA mainly affects dark skinned patients and grows rapidly, showing a plane or slightly raised appearance and a brown to black color. The differential diagnosis includes oral nevi, amalgam tattoos, and melanomas. We report here the case of a 58-year-old black woman who presented multiple pigmented lesions on the hard palate. Case presentation. Based on the differential diagnosis of melanoma, a punch biopsy (4 mm in diameter) was performed. The material was fixed in 10% formalin, embedded in paraffin, and stained with hematoxylin-eosin or submitted to immunohistochemical analysis. Immunohistochemistry using antibodies against protein S-100, melan-A, HMB-45, MCM-2, MCM-5, Ki-67 and geminin was performed. Immunohistochemical analysis revealed strong cytoplasmic immunoreactivity of dendritic melanocytes for proteinS-100, HMB-45 and melan-A.Positive staining for proliferative markers (MCM-2, MCM-5, Ki-67) was only observed in basal and suprabasal epithelial cells, confirming the reactive etiology of the lesion. The diagnosis was oral Melanoacanthoma (MA). Conclusion: The patient has been followed up for 30 months and shows no clinical alterations. MA should be included in the differential diagnosis of pigmented lesions of the oral cavity. © 2013 das Chagas e Silva de Carvalho et al.; licensee BioMed Central Ltd.

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Purpose: The article aims to introduce nurses to how genetics-genomics is currently integrated into cancer care from prevention to treatment and influencing oncology nursing practice. Organizing Construct: An overview of genetics-genomics is described as it relates to cancer etiology, hereditary cancer syndromes, epigenetics factors, and management of care considerations. Methods: Peer-reviewed literature and expert professional guidelines were reviewed to address concepts of genetics-genomics in cancer care. Findings: Cancer is now known to be heterogeneous at the molecular level, with genetic and genomic factors underlying the etiology of all cancers. Understanding how these factors contribute to the development and treatment of both sporadic and hereditary cancers is important in cancer risk assessment, prevention, diagnosis, treatment, and long-term management and surveillance. Conclusions: Rapidly developing advances in genetics-genomics are changing all aspects of cancer care, with implications for nursing practice. Clinical Relevance: Nurses can educate cancer patients and their families about genetic-genomic advances and advocate for use of evidence-based genetic-genomic practice guidelines to reduce cancer risk and improve outcomes in cancer management. © 2013 Sigma Theta Tau International.

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Hereditary or acquired cerebellar hypoplasia (CH) is commonly diagnosed in Holstein, Guernsey, Shorthorn and Jersey cattle. Bovine viral diarrhea (BVD) has been associated to acquired CH due to viral infection during the second trimester of pregnancy. Stricken calf usually shows ataxia, hypermetria, opisthotonus, intentional tremor and wide-based stance when in standing position. Three newborn calves were referred to the FCAV/Unesp Veterinary Teaching Hospital because of neurological distress. The clinical presentation, similar in all cases, indicated CH. Two weeks later, clinical signs did not improve and euthanasia was performed. Macroscopic examination revealed a gelatinous serosanguineous fluid over the brain surface and within the cervical spinal canal. Histologically the cerebellum had disorganization of the internal granular layer and moderate disappearance of Purkinje cells. The observed clinical signs and nervous tissue lesions were consistent with congenital cerebellar syndrome, possibly associated to viral infection during fetal development. Despite CH has been assumed to be related to BVD, blue tongue and Akabane viruses, only the BVD etiology has been already identified in Brazil.