L-carnitine as an ergogenic aid for patients with chronic obstructive pulmonary disease submitted to whole-body and respiratory muscle training programs

The effects of adding L-carnitine to a whole-body and respiratory training program were determined in moderate-to-severe chronic obstructive pulmonary disease (COPD) patients. Sixteen COPD patients (66 ± 7 years) were randomly assigned to L-carnitine (CG) or placebo group (PG) that received either L-carnitine or saline solution (2 g/day, orally) for 6 weeks (forced expiratory volume on first second was 38 ± 16 and 36 ± 12%, respectively). Both groups participated in three weekly 30-min treadmill and threshold inspiratory muscle training sessions, with 3 sets of 10 loaded inspirations (40%) at maximal inspiratory pressure. Nutritional status, exercise tolerance on a treadmill and six-minute walking test, blood lactate, heart rate, blood pressure, and respiratory muscle strength were determined as baseline and on day 42. Maximal capacity in the incremental exercise test was significantly improved in both groups (P < 0.05). Blood lactate, blood pressure, oxygen saturation, and heart rate at identical exercise levels were lower in CG after training (P < 0.05). Inspiratory muscle strength and walking test tolerance were significantly improved in both groups, but the gains of CG were significantly higher than those of PG (40 ± 14 vs 14 ± 5 cmH2O, and 87 ± 30 vs 34 ± 29 m, respectively; P < 0.05). Blood lactate concentration was significantly lower in CG than in PG (1.6 ± 0.7 vs 2.3 ± 0.7 mM, P < 0.05). The present data suggest that carnitine can improve exercise tolerance and inspiratory muscle strength in COPD patients, as well as reduce lactate production.

Analysis of floristic composition and structure as an aid to monitoring protected areas of dense rain forest in southeastern Brazil

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

Back to school with tablets embedded in digital desks

A digital-desk pilot program, named One Laptop Per Child (OPLC), in Brazil uses a unique display design to provide an interactive interface developed to enhance education and minimize ergonomic concerns. The one-to-one computer strategy as proposed by Nicholas Negroponte is a way of circumventing the tragedy of the locked computer lab because it gives children full access to computers anytime. The OLPC program has focused on a solution that minimizes power consumption, which also limits the display's maximum size and processor performance because the LCD backlights are responsible for a significant part of the power consumption in laptops. The government has also developed a new type of low-cost tablet that is based on a resistive principle. High transparencies can be obtained in the 90% range in the tablet, while robustness is guaranteed by the outstanding tribological characteristics of Sn02 on glass.

A new tuning fork with different vibration frequencies as an aid to bronchopulmonary hygiene physiotherapy

Background: The main function of the mucociliary system is the removal of particles or substances that are potentially harmful to the respiratory tract. The tuning fork therapeutic for the purpose of bronchial hygiene has still not been described in the literature. The optimal vibration frequency to mobilize secretions is widely debated and varies between 3 and 25 Hz. It is expected that a tuning fork is able to generate vibrations in the thorax, facilitating bronchial hygiene. The aim of the present study is to develop tuning forks with different frequencies, for use in bronchopulmonary hygiene therapy. Methods: The first tuning fork was made with a fixed frequency of 25 Hz and it was recorded in the Brazilian institution of patent registration. This device generated a frequency of 25 Hz and had a weight of 521 g, with dimensions of 600 mm in total length. The device is characterized by a bottom end containing a transducer with a diameter of 62 mm and a thickness of 5/16 mm (8''), a rod removable 148 mm, fork length of 362 mm and an extension at the upper end of sinuous shape bilaterally.The tuning forks must be applied at an angle of 90° directly on the chest wall of the patient after pulmonary auscultation for location of secretions. The tuning fork is activated by squeezing the tips of the extensions together and releasing them in a sudden movement. Results: This study shows the result of the development of others three tuning forks of different dimensions to generate different frequencies. Each equipment reaches a fixed frequency preset of 12, 15 and 20 Hz measured by digital oscilloscope. Conclusions: The tuning fork models developed in this study generated different frequencies proposed by the scientific literature as effective in the mobilization of pulmonary secretions.

Analysis of Factor VIII polymorphic markers as a means for carrier detection in Brazilian families with haemophilia A

Haemophilia A is an X-linked, recessively inherited bleeding disorder of varying severity, which results from the deficiency of procoagulant factor VIII f(8). Linkage diagnosis using polymorphic markers in the f8 gene is widely used to detect carriers. The objective of this study was to verify the informativeness of three polymorphic markers in the Brazilian population, to evaluate the usefulness of such markers in carrier detection procedures. Sixty-three unrelated healthy volunteers and 10 haemophilic families were studied. Two microsatellite repeats and one HindIII RFLP markers were used. Carrier and non-carrier status could be determined in 80% of females investigated. Intron 13 markers presented the highest heterozygosity rate (79%) followed by intron 22 (68%) and intron 19 (57%). When all three markers were used together, linkage analysis informativeness increased significantly. We conclude that these markers are suitable for carrier detection in the Brazilian population and we recommend their use in combination to maximize diagnostic efficiency.

Consequences of Chronic Nasal Obstruction on the Laryngeal Mucosa and Voice Quality of 4- to 12-Year-Old Children

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

Prevalence of Malocclusion and Related Oral Habits in 5-to 6-year-old Children

Purpose: To verify the prevalence of malocclusion and the influence of harmful oral habits on deciduous dentition in 5- and 6-year-old children enrolled in Brazilian public elementary schools during 2010.Materials and Methods: Exams were conducted in 1385 children from 56 Brazilian elementary schools using the method recommended by the World Health Organization (WHO) for epidemiological surveys on oral health. Information about the type of arch, social and economic data and harmful oral habits of the children were collected through a structured questionnaire.Results: In relation to canine occlusion, a high prevalence of Class I (74.5%), followed by Class II (19.4%), was found. Among all participants, 22% showed high overjet, 7.8% showed edge-to-edge occlusion and 2.3% showed anterior crossbite. In relation to overbite, 13.2% had short overbite, 14.3% open bite and 16.8% high overbite. The presence of posterior crossbite occurred in 14.6% of children. Maxillae predominantly exhibited the type I arch (67.9%) and mandibles predominantly exhibited type II (51.7%). In relation to harmful oral habits, 43.4% used a pacifier, 84.8% used a bottle and finger sucking was reported by 17.2%.Conclusion: There was a high prevalence of malocclusion associated with oral habits harmful to deciduous dentition.

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.

Clinical and histomorphometric characteristics of three different families with hereditary gingival fibromatosis

Objective. To examine the histomorphologic and histomorphometric features of tissue from 3 unrelated families with hereditary gingival fibromatosis (HGF).Study design. Twelve affected individuals from 3 HGF families and 3 control subjects were evaluated. Gingival samples were fixed in formalin and embedded in paraffin for hematoxylin and eosin stain to count the number of fibroblast and inflammatory cells. Sirius red staining was performed to quantitate the amount of collagen present.Results. Histomorphologic analysis of HGF showed extension of epithelial rete ridges into the underlying lamina propria and the presence of collagen bundles in the connective tissue. Analysis of the mean area fraction of collagen showed that there were significant increases in the collagen fraction for all HGF types compared with control subjects (P < .05). There were significant increases in the number of fibroblasts for HGFa and HGFb compared with control subjects (P < .05). The number of fibroblasts for HGFc were similar to that for control subjects.Conclusions. The collagen fraction was significantly greater in all HGF types compared with controls. The number of fibroblasts was significantly increased in 2 of the 3 HGF types compared with controls. These data indicate that different mechanisms may be responsible for tissue enlargement in different forms of HGF.

Assessment of the diet of 0- to 6-year-old children in municipal schools in a Brazilian city

Diet control is one of the important factors in the prevention of dental caries because food functions as substratum for fermentation and, consequently, for the formation of the organic acids that demineralize the tooth surface. This study aims to descriptively assess school diet and the associated caries-preventive methods applied to children in all municipal nursery schools of a Brazilian city (Aragatuba/SP). For this, a questionnaire with open and closed questions was used. The results showed that all schools serve school meal, which is composed mainly of sugar, carbohydrates, and proteins. The students enjoy the meal very much because for most of them, the meal served at school is the only source of food. It was observed that 90% of the schools offer other kinds of food besides the main school meal. The snacks served such as cakes, white hominy, and milk fudge are composed of sweet and highly cariogenic foods. It was also verified that in 13.30% of the schools, the daily supervised dental hygiene, an important procedure that should not be neglected, is not carried out. This procedure introduces the children to healthy habits that are added to those acquired in the family environment. It was concluded that the school diet is potentially cariogenic and, in association with the lack of daily dental hygiene, this potential may become even higher.

Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta

Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Mutations in several enamel proteins and proteinases have been associated with AI. The object of this study was to evaluate evidence of etiology for the six major candidate gene loci in two Brazilian families with AI. Genomic DMA was obtained from family members and all exons and exon-intron boundaries of the ENAM, AMBN, AMELX, MMP20, KLK4 and Amelotin gene were amplified and sequenced. Each family was also evaluated for linkage to chromosome regions known to contain genes important in enamel development. The present study indicates that the AI in these two families is not caused by any of the known loci for AI or any of the major candidate genes proposed in the literature. These findings indicate extensive genetic heterogeneity for non-syndromic AI.

Using state-space techniques to represent frequency dependent single-phase lines directly in time domain

This paper proposes to use a state-space technique to represent a frequency dependent line for simulating electromagnetic transients directly in time domain. The distributed nature of the line is represented by a multiple 1t section network made up of the lumped parameters and the frequency dependence of the per unit longitudinal parameters is matched by using a rational function. The rational function is represented by its equivalent circuit with passive elements. This passive circuit is then inserted in each 1t circuit of the cascade that represents the line. Because the system is very sparse, it is possible to use a sparsity technique to store only nonzero elements of this matrix for saving space and running time. The model was used to simulate the energization process of a 10 km length single-phase line. ©2008 IEEE.

Prevalence of the germline TP53 p.R337H mutation in families with multiple cases of cancer

Germline mutations in TP53 gene are associated with Li-Fraumeni syndrome (LFS) and its variants Li-Fraumeni-like (LFL). They predispose carriers to a wide variety of early onset tumors. In Brazil, there is a high frequency of a germline mutation in this gene (NC_000017.9: c.1010G>A; p.R337H) in Southern and Southeastern regions, due to a founder effect. It is estimated to be present in 0,3% ofthe local population, but only few families have been detected. Due to this significant divergence, the purpose of this study was to verify the effectiveness of wider criteria for detection of these individuals. Herein, clinical criteria were established, DNA samples were collected, analyzed by Restriction Fragment Length Polymorphism (RFLP) and sequenced. Thus, assessing the prevalence of this mutation in families with multiple cases of cancer. Based on our proposed criteria, one out of 31 patients (3,22%) was found to carry p.R337H mutation. The patient developed ductal invasive breast cancer at age 47, invasive adenocarcinoma of the lung at age 48 and soft-tissue sarcoma at age 49. In addition, an extensive cancer family history was referred, atypical for LFS, including a case of Ewing’s sarcoma. These outcomes indicate that the proposed criteria may detect probable carriers who did not fit previous LFS criteria. Nevertheless, additional studies, which might include a larger number of families and more stringent parameters, will be useful to improve screening sensibility

Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor

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

The importance of parental involvement in swimming lessons for person with disability

The Ecolological Theory of Human Development proposed by Urie Bronfenbrenner assumes that the activities and people involved in an evironment are essential to stimulate the aquisition of new abilities . Analyze the strategy of parent’s presence with their children in a swimming class for PWD during the teaching process. Also, verify the parent’s views on this experience and the participation of their child during practice. It is a qualitative and action-research. To collect data was utilized observation during to analyse the activities developed in a swimming class for PWD, on the presence of parents with their children. A semi-structured interview was used to analyse the perception parents after the experience of the classroom. Analysis of activities and the interview were based on the assumption of Bronfenbrenner (1996). It was found that 100% of the parents rated the positive experience of being with their children in the pool. We found that only 25% of parents reported that had entered the pool to play with their children. We emphasize that 75% had never entered in the water with their children, whether because of fear, lack of opportunity or not knowing how to swim. The proposal of parents’ participation in the swimming class with the PWD generated a favorable environment for development the activities. Parents identified the improvement, the potential and difficulties of PWD.