Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation

X-linked adrenoleukodystrophy (X-ALD) is an inherited disease with clinical heterogeneity varying from presymptomatic individuals to rapidly progressive cerebral ALD forms. This disease is characterized by increased concentration of very long chain fatty acids (VLCFAs) in plasma and in adrenal, testicular and nervous tissues. Affected individuals can be classified in different clinical settings, according to phenotypic expression and age at onset of initial symptoms. Molecular defects in X-ALD individuals usually result from ABCD1 gene mutations. In the present report we describe clinical data and the ABCD1 gene study in two boys affected with the childhood cerebral form that presented with different symptomatic manifestations at diagnosis. In addition, their maternal grandfather had been diagnosed with Addison's disease indicating phenotypic variation for X-ALD within this family. The mutation p.Trp132Ter was identified in both male patients; additionally, three females, out of eleven family members, were found to be heterozygous after screening for this mutation. In the present report, the molecular analysis was especially important since one of the heterozygous females was in first stages of pregnancy. Therefore, depending on the fetus outcome, if male and p.Trp132Ter carrier, storage of the umbilical cord blood should be recommended as hematopoietic stem cell transplantation could be considered as an option for treatment in the future.

Atividade fisica no padrão epidemiologico de transição : investigação de lesões sensitivo-motoras na hanseniase a partir de estudo transversal hibrido no Instituto Lauro de Souza Lima, Bauru

Universidade Estadual de Campinas . Faculdade de Educação Física

Ghost Cells In Pilomatrixoma, Craniopharyngioma, And Calcifying Cystic Odontogenic Tumor: Histological, Immunohistochemical, And Ultrastructural Study.

Pilomatrixoma, craniopharyngioma, and calcifying cystic odontogenic tumor are the main entities presenting ghost cells as an important histological feature, in spite their quite different clinical presentation; it seems that they share a common pathway in the formation of these cells. The aim of this study is to examine and compare the characteristics of ghost and other cells that form these lesions. Forty-three cases including 21 pilomatrixomas, 14 craniopharyngiomas, and eight calcifying cystic odontogenic tumors were evaluated by immunohistochemistry for cytokeratins, CD138, β-catenin, D2-40, Glut-1, FAS, CD10 and also by scanning electron microscopy. The CKs, CD138, β-catenin, Glut-1, FAS, and CD10 were more often expressed by transitional cells of craniopharyngioma and calcifying cystic odontogenic tumor, compared with pilomatrixoma. Basaloid cells of pilomatrixoma showed strong positivity for CD138 and CD10. Differences on expression pattern were identified in transitional and basal cells, as ghost cells were negative for most antibodies used, except by low expression for cytokeratins. By scanning electron microscopy, the morphology of ghost cells were similar in their fibrillar cytoplasm, but their pattern varied from sheets in pilomatrixoma to small clusters in craniopharyngioma and calcifying cystic odontogenic tumor. Mechanisms involved in formation of ghost cells are unknown, but probably they follow different pathways as protein expression in the basal/transitional cells was not uniform in the three tumors studied.

Variabilidade espacial da textura de um latossolo sob cultivo de citros

Relief influences soil texture variability, since it contributes to the time of exposition of the materials to weathering factors. Our work was carried out in the city of Gavião Peixoto (SP), with the objective of characterizing the spatial variability of texture of a dystrophic Red Latosol cultivated with citrus. The hillside was divided into three segments: top, stocking lean and inferior lean. Soil samples were collected in a grid with regular intervals of 50 m, at the depths of 0.0-0.2 m and 0.6-0.8 m, comprising a total of 332 points in an area of 83.5 ha. The data were submitted to descriptive and geostatistics analyses (semivariogram modeling and kriging maps). The spatial behavior of the texture of oxisols is directly related to the relief forms in this study, which controls the direction of surface and subsurface water flows. The concept of homogeneity of clay distribution in the Oxisol profile is a piece of information that can be adjusted by knowing the spatial pattern of this distribution in different relief forms.

Evaluation Of Different Treatment Methods Against Denture Stomatitis: A Randomized Clinical Study.

The aim of this clinical study was to determine the efficacy of Uncaria tomentosa (cat's claw) against denture stomatitis (DS). Fifty patients with DS were randomly assigned into 3 groups to receive 2% miconazole, placebo, or 2% U tomentosa gel. DS level was recorded immediately, after 1 week of treatment, and 1 week after treatment. The clinical effectiveness of each treatment was measured using Newton's criteria. Mycologic samples from palatal mucosa and prosthesis were obtained to determinate colony forming units per milliliter (CFU/mL) and fungal identification at each evaluation period. Candida species were identified with HiCrome Candida and API 20C AUX biochemical test. DS severity decreased in all groups (P < .05). A significant reduction in number of CFU/mL after 1 week (P < .05) was observed for all groups and remained after 14 days (P > .05). C albicans was the most prevalent microorganism before treatment, followed by C tropicalis, C glabrata, and C krusei, regardless of the group and time evaluated. U tomentosa gel had the same effect as 2% miconazole gel. U tomentosa gel is an effective topical adjuvant treatment for denture stomatitis.

Clinical Influence Of Different Intracanal Medications On Th1-type And Th2-type Cytokine Responses In Apical Periodontitis.

This clinical study assessed the influence of different intracanal medications on Th1-type and Th2-type cytokine responses in apical periodontitis and monitored the levels of bacteria from primarily infection during endodontic procedures. Thirty primarily infected teeth were randomly divided into 3 groups according to the medication selected: chlorhexidine (CHX), 2% CHX gel; Ca(OH)2/SSL, Ca(OH)2 + SSL; and Ca(OH)2/CHX, Ca(OH)2 + 2% CHX gel (all, n = 10). Bacterial sample was collected from root canals, and the interstitial fluid was sampled from lesions. Culture techniques were used to determine bacterial counts (colony-forming units/mL). Th1 (tumor necrosis factor-α, interferon-γ, and interleukin [IL]-2) and Th2 cytokines (IL-4, IL-5, and IL-13) were measured by enzyme-linked immunosorbent assay. All intracanal medication protocols were effective in reducing the bacterial load from root canals (all P < .05) and lowering the levels of Th1-type cytokines in apical lesions (all P < .05), with no differences between them (P > .05). Both Ca(OH)2 treatment protocols significantly increased the levels of Th2-type cytokines (P < .05), with no differences between them (P > .05). Thus, chlorhexidine medication showed the lowest effectiveness in increasing the levels of Th2-type cytokine. After treatment, regardless of the type of medication, the linear regression analysis indicated the down-regulation of Th2-type cytokines by Th1-type cytokines. All intracanal medication protocols were effective in reducing bacterial load and lowering the levels of Th1-type cytokines. Thus, the use of Ca(OH)2 medications contributed to the increase in the Th2-type cytokine response in apical periodontitis.

Reasons For Brazilian Women To Switch From Different Contraceptives To Long-acting Reversible Contraceptives.

Long-acting reversible contraceptives (LARCs) include the copper-releasing intrauterine device (IUD), the levonorgestrel-releasing intrauterine system (LNG-IUS) and implants. Despite the high contraceptive efficacy of LARCs, their prevalence of use remains low in many countries. The objective of this study was to assess the main reasons for switching from contraceptive methods requiring daily or monthly compliance to LARC methods within a Brazilian cohort. Women of 18-50 years of age using different contraceptives and wishing to switch to a LARC method answered a questionnaire regarding their motivations for switching from their current contraceptive. Continuation rates were evaluated 1 year after method initiation. Sample size was calculated at 1040 women. Clinical performance was evaluated by life table analysis. The cutoff date for analysis was May 23, 2013. Overall, 1167 women were interviewed; however, after 1 year of use, the medical records of only 1154 women were available for review. The main personal reason for switching, as reported by the women, was fear of becoming pregnant while the main medical reasons were nausea and vomiting and unscheduled bleeding. No pregnancies occurred during LARC use, and the main reasons for discontinuation were expulsion (in the case of the IUD and LNG-IUS) and a decision to undergo surgical sterilization (in the case of the etonogestrel-releasing implant). Continuation rate was ~95.0/100 women/year for the three methods. Most women chose a LARC method for its safety and for practical reasons, and after 1 year of use, most women continued with the method.

Cross-sectional Study Comparing Different Therapeutic Modalities For Cystic Lymphangiomas In Children.

Here, we describe our experience with different therapeutic modalities used to treat cystic lymphangiomas in children in our hospital, including single therapy with OK-432, bleomycin and surgery, and a combination of the three modalities. We performed a retrospective, cross-sectional study including patients treated from 1998 to 2011. The effects on macrocystic lymphangiomas and adverse reactions were evaluated. Twenty-nine children with cystic lymphangiomas without any previous treatment were included. Under general anesthesia, patients given sclerosing agents underwent puncture of the lesion (guided by ultrasound when necessary) and complete aspiration of the intralesional liquid. The patients were evaluated with ultrasound and clinical examinations for a maximum follow-up time of 4 years. The proportions of patients considered cured after the first therapeutic approach were 44% in the surgery group, 29% in the bleomycin group and 31% in the OK-432 group. These proportions were not significantly different. Sequential treatment increased the rates of curative results to 71%, 74% and 44%, respectively, after the final treatment, which in our case was approximately 1.5 applications per patient. The results of this study indicate that most patients with cystic lymphangiomas do not show complete resolution after the initial therapy, regardless of whether the therapy is surgical or involves the use of sclerosing agents. To achieve complete resolution of the lesions, either multiple operations or a combination of surgery and sclerotherapy must be used and should be tailored to the characteristics of each patient.

Chronic Telogen Effluvium And Female Pattern Hair Loss Are Separate And Distinct Forms Of Alopecia: A Histomorphometric And Immunohistochemical Analysis.

Chronic telogen effluvium (CTE), a poorly understood condition, can be confused with or may be a prodrome to female pattern hair loss (FPHL). The pathogenesis of both is related to follicle cycle shortening and possibly to blood supply changes. To analyze a number of histomorphometric and immunohistochemical findings through vascular endothelial growth factor (VEGF), Ki-67, and CD31 immunostaining in scalp biopsies of 20 patients with CTE, 17 patients with mild FPHL and 9 controls. Ki-67 index and VEGF optical density were analyzed at the follicular outer sheath using ImageJ software. CD31 microvessel density was assessed by a Chalkley grid. Significant follicle miniaturization and higher density of nonanagen follicles were found in FPHL, compared with patients with CTE and controls. Ki-67+ index correlated positively with FPHL histological features. The FPHL group showed the highest VEGF optical density, followed by the CTE and control groups. No differences were found in CD31 microvessel density between the three groups. Histomorphometric results establish CTE as a distinct disorder, separate from FPHL from its outset. Its pathogenic mechanisms are also distinct. These findings support the proposed mechanism of 'immediate telogen release' for CTE, leading to cycle synchronization. For FPHL, accelerated anagen follicular mitotic rates and, thus, higher Ki-67 and VEGF values, would leave less time for differentiation, resulting in hair miniaturization.

Corrosion Kinetics And Topography Analysis Of Ti-6al-4v Alloy Subjected To Different Mouthwash Solutions.

This study evaluated the corrosion kinetics and surface topography of Ti-6Al-4V alloy exposed to mouthwash solutions (0.12% chlorhexidine digluconate, 0.053% cetylpyridinium chloride and 3% hydrogen peroxide) compared to artificial saliva (pH6.5) (control). Twenty Ti-6Al-4V alloy disks were used and divided into 4 groups (n=5). For the electrochemical assay, standard tests as open circuit potential and electrochemical impedance spectroscopy (EIS) were applied at baseline, 7 and 14days after immersion in the solutions. Scanning electron microscopy, atomic force microscopy and profilometry (average roughness - Ra) were used for surface characterization. Total weight loss of disks was calculated. Data were analyzed by ANOVA and Bonferroni's test (α=0.05). Hydrogen peroxide generated the lowest polarization resistance (Rp) values for all periods (P<0.05). For the capacitance (Cdl), similar results were observed among groups at baseline (P=0.098). For the 7 and 14-day periods, hydrogen peroxide promoted the highest Cdl values (P<0.0001). Hydrogen peroxide promoted expressive superficial changes and greater Ra values than the others (P<0.0001). It could be concluded that solutions containing cetylpyridinium chloride and chlorhexidine digluconate might be the mouthwashes of choice during the post-operatory period of dental implants. However, hydrogen peroxide is counter-indicated in these situations. Further studies evaluating the dynamics of these solutions (tribocorrosion) and immersing the disks in daily cycles (two or three times a day) to mimic a clinical situation closest to the application of mouthwashes in the oral cavity are warranted to prove our results.

Surgical Site Infections In Women And Their Association With Clinical Conditions.

Surgical site infections (SSIs) can affect body tissues, cavities, or organs manipulated in surgery and constitute 14% to 16% of all infections. This study aimed to determine the incidence of SSIs in women following their discharge from a gynecology outpatient clinic, to survey different types of SSIs among women, and to verify the association of SSIs with comorbidities and clinical conditions. Data were collected via analytical observation with a cross-sectional design, and the study was conducted in 1,026 women who underwent gynecological surgery in a teaching hospital in the municipality of Teresina, in the northeast Brazilian State of Piauí, from June 2011 to March 2013. The incidence of SSIs after discharge was 5.8% among the women in the outpatient clinic. The most prevalent surgery among the patients was hysterectomy, while the most prevalent type of SSI was superficial incisional. Comorbidities in women with SSIs included cancer, diabetes mellitus, and hypertension. Surveillance of SSIs during the post-discharge period is critical for infection prevention and control. It is worth reflecting on the planning of surgical procedures for patients who have risk factors for the development of SSIs.

Comparison Of Different Transfer Impression Techniques Accuracy For Osseointegrated Implants.

Abstract The aim of this study was to evaluate three transfer techniques used to obtain working casts of implant-supported prostheses through the marginal misfit and strain induced to metallic framework. Thirty working casts were obtained from a metallic master cast, each one containing two implant analogues simulating a clinical situation of three-unit implant-supported fixed prostheses, according to the following transfer impression techniques: Group A, squared transfers splinted with dental floss and acrylic resin, sectioned and re-splinted; Group B, squared transfers splinted with dental floss and bis-acrylic resin; and Group N, squared transfers not splinted. A metallic framework was made for marginal misfit and strain measurements from the metallic master cast. The misfit between metallic framework and the working casts was evaluated with an optical microscope following the single-screw test protocol. In the same conditions, the strain was evaluated using strain gauges placed on the metallic framework. The data was submitted to one-way ANOVA followed by the Tukey's test (α=5%). For both marginal misfit and strain, there were statistically significant differences between Groups A and N (p<0.01) and Groups B and N (p<0.01), with greater values for the Group N. According to the Pearson's test, there was a positive correlation between the variables misfit and strain (r=0.5642). The results of this study showed that the impression techniques with splinted transfers promoted better accuracy than non-splinted one, regardless of the splinting material utilized.

Genetic Diversity Of Giardia Duodenalis: Multilocus Genotyping Reveals Zoonotic Potential Between Clinical And Environmental Sources In A Metropolitan Region Of Brazil.

Giardia duodenalis is a flagellate protozoan that parasitizes humans and several other mammals. Protozoan contamination has been regularly documented at important environmental sites, although most of these studies were performed at the species level. There is a lack of studies that correlate environmental contamination and clinical infections in the same region. The aim of this study is to evaluate the genetic diversity of a set of clinical and environmental samples and to use the obtained data to characterize the genetic profile of the distribution of G. duodenalis and the potential for zoonotic transmission in a metropolitan region of Brazil. The genetic assemblages and subtypes of G. duodenalis isolates obtained from hospitals, a veterinary clinic, a day-care center and important environmental sites were determined via multilocus sequence-based genotyping using three unlinked gene loci. Cysts of Giardia were detected at all of the environmental sites. Mixed assemblages were detected in 25% of the total samples, and an elevated number of haplotypes was identified. The main haplotypes were shared among the groups, and new subtypes were identified at all loci. Ten multilocus genotypes were identified: 7 for assemblage A and 3 for assemblage B. There is persistent G. duodenalis contamination at important environmental sites in the city. The identified mixed assemblages likely represent mixed infections, suggesting high endemicity of Giardia in these hosts. Most Giardia isolates obtained in this study displayed zoonotic potential. The high degree of genetic diversity in the isolates obtained from both clinical and environmental samples suggests that multiple sources of infection are likely responsible for the detected contamination events. The finding that many multilocus genotypes (MLGs) and haplotypes are shared by different groups suggests that these sources of infection may be related and indicates that there is a notable risk of human infection caused by Giardia in this region.

Artificial Gait In Complete Spinal Cord Injured Subjects: How To Assess Clinical Performance.

Objective Adapt the 6 minutes walking test (6MWT) to artificial gait in complete spinal cord injured (SCI) patients aided by neuromuscular electrical stimulation. Method Nine male individuals with paraplegia (AIS A) participated in this study. Lesion levels varied between T4 and T12 and time post injured from 4 to 13 years. Patients performed 6MWT 1 and 6MWT 2. They used neuromuscular electrical stimulation, and were aided by a walker. The differences between two 6MWT were assessed by using a paired t test. Multiple r-squared was also calculated. Results The 6MWT 1 and 6MWT 2 were not statistically different for heart rate, distance, mean speed and blood pressure. Multiple r-squared (r2 = 0.96) explained 96% of the variation in the distance walked. Conclusion The use of 6MWT in artificial gait towards assessing exercise walking capacity is reproducible and easy to apply. It can be used to assess SCI artificial gait clinical performance.

Low Molecular Weight Protein Tyrosine Phosphatase (lmwptp) Upregulation Mediates Malignant Potential In Colorectal Cancer.

Phosphatases have long been regarded as tumor suppressors, however there is emerging evidence for a tumor initiating role for some phosphatases in several forms of cancer. Low Molecular Weight Protein Tyrosine Phosphatase (LMWPTP; acid phosphatase 1 [ACP1]) is an 18 kDa enzyme that influences the phosphorylation of signaling pathway mediators involved in cancer and is thus postulated to be a tumor-promoting enzyme, but neither unequivocal clinical evidence nor convincing mechanistic actions for a role of LMWPTP have been identified. In the present study, we show that LMWPTP expression is not only significantly increased in colorectal cancer (CRC), but also follows a step-wise increase in different levels of dysplasia. Chemical inhibition of LMWPTP significantly reduces CRC growth. Furthermore, downregulation of LMWPTP in CRC leads to a reduced migration ability in both 2D- and 3D-migration assays, and sensitizes tumor cells to the chemotherapeutic agent 5-FU. In conclusion, this study shows that LMWPTP is not only overexpressed in colorectal cancer, but it is correlated with the malignant potential of this cancer, suggesting that this phosphatase may act as a predictive biomaker of CRC stage and represents a rational novel target in the treatment of this disease.