999 resultados para Chromosomal disorders


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To analyze the sociocognitive performance of children and adolescents with autism spectrum disorders in two environments of language therapy, which differ as to the physical structure. Ten children and adolescents with ages between 4 and 13 years, of both genders, diagnosed with autism spectrum disorders took part in the study. For data collection, eight filming sessions were performed during individual language therapy lasting 30 minutes, being four in a room with conventional environmental organization (common room) and four in a room with specific ambiance [children's interaction core (CIC) room], interspersed during a month. For the analysis of filmed situations, the Sociocognitive Performance Protocol was used and obtained data were subjected to statistical analysis. No statistical significance was found in sociocognitive performance of 10 subjects in the common and CIC rooms, although specific differences were observed in some cases. The creation of preestablished physical environments or specific materials is not and should not be considered essential for language therapy. It is noteworthy, however, that the absence of a large volume of statistically significant data does not indicate that the results are not expressive, reiterating the need for further research in the area.

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The aim of this study was to investigate obstacle clearance and its variability in individuals with Alzheimer dementia (AD) as well as healthy elderly individuals while they approached and crossed an obstacle in their path. Fifteen people with AD and 15 age-matched/sex-matched healthy individuals (control group) participated in this study. Clinical assessment of both groups was performed by a neuropsychiatrist. Spatial-temporal parameters of 5 trials of unobstructed walking and 5 trials of obstacle crossing during walking (approach and crossing phases) were measured using a 3-dimensional optoelectronic system. The results indicated that individuals with AD showed higher variability in the approach phase for stride length and the horizontal distance from their trailing limb foot to the obstacle. However, their gait variability in the crossing phase was similar to the control group. In addition, the individuals with AD were found to walk slowly and with a short stride length in both conditions. In conclusion, individuals with AD had increased gait variability while approaching an obstacle during walking, indicating a deficit in planning to avoid obstacles that could be related to cognitive disorders. However, gait variability during the crossing phase may not be indicative of cognitive disorders in AD.

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Dysphonia is more prevalent in teachers than among the general population. The objective of this study was to analyze clinical, vocal, and videolaryngoscopical aspects in dysphonic teachers. Ninety dysphonic teachers were inquired about their voice, comorbidities, and work conditions. They underwent vocal auditory-perceptual evaluation (maximum phonation time and GRBASI scale), acoustic voice analysis, and videolaryngoscopy. The results were compared with a control group consisting of 90 dysphonic nonteachers, of similar gender and ages, and with professional activities excluding teaching and singing. In both groups, there were 85 women and five men (age range 31-50 years). In the controls, the majority of subjects worked in domestic activities, whereas the majority of teachers worked in primary (42.8%) and secondary school (37.7%). Teachers and controls reported, respectively: vocal abuse (76.7%; 37.8%), weekly hours of work between 21 and 40 years (72.2%; 80%), under 10 years of practice (36%; 23%), absenteeism (23%; 0%), sinonasal (66%; 20%) and gastroesophageal symptoms (44%; 22%), hoarseness (82%; 78%), throat clearing (70%; 62%), and phonatory effort (72%; 52%). In both groups, there were decreased values of maximum phonation time, impairment of the G parameter in the GRBASI scale (82%), decrease of F0 and increase of the rest of acoustic parameters. Nodules and laryngopharyngeal reflux were predominant in teachers; laryngopharyngeal reflux, polyps, and sulcus vocalis predominated in the controls. Vocal symptoms, comorbidities, and absenteeism were predominant among teachers. The vocal analyses were similar in both groups. Nodules and laryngopharyngeal reflux were predominant among teachers, whereas polyps, laryngopharyngeal reflux, and sulcus were predominant among controls.

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

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

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Lateral pterygoid muscle (LPM) plays an important role in jaw movement and has been implicated in Temporomandibular disorders (TMDs). Migraine has been described as a common symptom in patients with TMDs and may be related to muscle hyperactivity. This study aimed to compare LPM volume in individuals with and without migraine, using segmentation of the LPM in magnetic resonance (MR) imaging of the TMJ. Twenty patients with migraine and 20 volunteers without migraine underwent a clinical examination of the TMJ, according to the Research Diagnostic Criteria for TMDs. MR imaging was performed and the LPM was segmented using the ITK-SNAP 1.4.1 software, which calculates the volume of each segmented structure in voxels per cubic millimeter. The chi-squared test and the Fisher's exact test were used to relate the TMD variables obtained from the MR images and clinical examinations to the presence of migraine. Logistic binary regression was used to determine the importance of each factor for predicting the presence of a migraine headache. Patients with TMDs and migraine tended to have hypertrophy of the LPM (58.7%). In addition, abnormal mandibular movements (61.2%) and disc displacement (70.0%) were found to be the most common signs in patients with TMDs and migraine. In patients with TMDs and simultaneous migraine, the LPM tends to be hypertrophic. LPM segmentation on MR imaging may be an alternative method to study this muscle in such patients because the hypertrophic LPM is not always palpable.

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Rapid growth in broilers is associated with susceptibility to metabolic disorders such as pulmonary hypertension syndrome (ascites) and sudden death. This study describes a genome search for QTL associated with relative weight of cardio respiratory and metabolically important organs (heart, lungs, liver and gizzard), and hematocrit value in a Brazilian broiler-layer cross. QTL with similar or different effects across sexes were investigated. At 42 days of age after fasted for 6 h, the F2 chickens were weighed and slaughtered. Weights and percentages of the weight relative to BW42 of gizzard, heart, lungs, liver and hematocrit were used in the QTL search. Parental, F1 and F2 individuals were genotyped with 128 genetic markers (127 microsatellites and 1 SNP) covering 22 linkage groups. QTL mapping analyses were carried out using mixed models. A total of 11 genome-wide significant QTL and five suggestive linkages were mapped. Thus, genome-wide significant QTL with similar effects across sexes were mapped to GGA2, 4 and 14 for heart weight, and to GGA2, 8 and 12 for gizzard %. Additionally, five genome-wide significant QTL with different effects across sexes were mapped to GGA 8, 19 and 26 for heart weight; GGA26 for heart % and GGA3 for hematocrit value. Five QTL were detected in chromosomal regions where QTL for similar traits were previously mapped in other F2 chicken populations. Seven novel genome-wide significant QTL are reported here, and 21 positional candidate genes in QTL regions were identified.

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Karyotypes are compared of 14 species of Brazilian Columbiformes (family Columbidae): Claravis pretiosa (2n=74), Columba cayennensis (2n=76), Columba picazuro (2n=76), Columba speciosa (2n=76), Columbina minuta (2n=76), Columbina passerina (2n=76), Columbina picui (2n=76), Columbina talpacoti (2n=76), Geotrygon montana (2n=86), Leptotila rufaxilla (2n=76), Leptotila verreauxi (2n=78), Scardafella squammata (2n=78), Uropelia campestris (2n=68) and Zenaida auriculata (2n=76). The macrochromosomes of each species were analysed by conventional Giemsa staining, cytobiometrically and with G-and C-banding. All species studied are characterized by typical bird karyotypes with a few pairs of macrochromosomes and many microchromosomes. The morphology and relative length of the Z chromosome are nearly the same in all species, but the W chromosome shows variation. The G-band patterns of the first pair in Columbiformes show a large positive band distally in the long arm, common to all species of the order. The constitutive heterochromatin is restricted to the centromeres of the macro- and microchromosomes. The W is the most heterochromatic chromosome in all species studied. Studies of relative lengths, arm ratios and G- and C-banding patterns showed that in Columbiformes pairs 3, 4 and 5 are the most stable. The types of rearrangements distinguishing between species vary among the genera: pericentric inversions in Columba; fusions and translocations in Uropelia; centric fissions in Geotrygon; fusions, translocations, para and pericentric inversions in Columbina, Leptotila, Zenaida and Scardafella. On the basis of the karyological findings the phylogenetic relationships of the Brazilian Columbiformes are discussed. © 1984 Dr W. Junk Publishers.

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To compare the effect of acupuncture and occlusal splint in the treatment of temporomandibular disorders (TMD) in female patients.Method: Forty-eight female patients (mean age of 39.3±6.8 years) with diagnosed pain in muscles or joint according to RDC/TMD criteria were attended at UNESP - Aracatuba Dental School. Including criteria were reported pain in the chewing muscles and/or in the temporomandibular joint measured by a visual analogue scale (range from 0 to 10) and a reported reduction of the maximum mouth opening. Excluding factors were major occlusal problems, systemic diseases, pregnancy and age below 18 years. After randomization, the first group was treated with acupuncture performed by instructed dentist. The second group was treated with occlusal splint. The outcome variables were assessed at baseline (prior to the first treatment session) and after 1, 3 and 6 months. Primary criteria of success were improvement of mouth opening and pain reduction.Result: Acupuncture group exhibited chewing pain decrease from 5 (at baseline) to 1, 2 and 1 after 1, 3 and 6 months, respectively. In the splint group, chewing pain decreased from 4 to 2, 1 and 2 after 1, 3 and 6 months, respectively. The mouth opening (in mm) increased from 28 (at baseline) to 42, 44 and 46 after 1, 3 and 6 months, respectively in the acupuncture group. In the splint group, mouth opening improved from 29 to 40 after 1 month, and to 43 and 42 after 3 and 6 months. A significant pain reduction was noted for both groups when compared to the baseline (p<.001; Wilcoxon test). Acupuncture group had a significant clinical improvement of opening mouth (Mann-Whitney). Conclusion: The present outcomes suggest a positive association among acupuncture and occlusal splint on the reduction of chewing pain. Acupuncture was more effective in the mouth opening increase.