Performance of Down syndrome subjects during a coincident timing task

Background: The time synchronization is a very important ability for the acquisition and performance of motor skills that generate the need to adapt the actions of body segments to external events of the environment that are changing their position in space. Down Syndrome (DS) individuals may present some deficits to perform tasks with synchronization demand. We aimed to investigate the performance of individuals with DS in a simple Coincident Timing task. Method. 32 individuals were divided into 2 groups: the Down syndrome group (DSG) comprised of 16 individuals with average age of 20 (+/- 5 years old), and a control group (CG) comprised of 16 individuals of the same age. All individuals performed the Simple Timing (ST) task and their performance was measured in milliseconds. The study was conducted in a single phase with the execution of 20 consecutive trials for each participant. Results: There was a significant difference in the intergroup analysis for the accuracy adjustment - Absolute Error (Z = 3.656, p = 0.001); and for the performance consistence - Variable Error (Z = 2.939, p = 0.003). Conclusion: DS individuals have more difficulty in integrating the motor action to an external stimulus and they also present more inconsistence in performance. Both groups presented the same tendency to delay their motor responses. © 2013 Torriani-Pasin et al.; licensee BioMed Central Ltd.

Swimmer syndrome affecting an entire litter of kittens

Swimmer syndrome is a developmental abnormality characterized by a delay in the ability to walk and move about and is manifested in newborns between 15 and 20 days of age. These animals exhibit constant coxofemoral articulation abduction, and their pelvic limbs move caudally and laterally. This case reports a litter of three crossbreeds kittens (26 days old) with swimmer syndrome. Each animal was treated with physical therapy and shackle bandages that kept their pelvic limbs bent and close to the body. After seven days, all of the animals exhibited normal ambulation, indicating that this treatment had a curative effect on the kittens.

Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome

Williams-Beuren syndrome (WBS) is a genetic disorder characterized by physical and intellectual developmental delay, associated with congenital heart disease and facial dysmorphism. WBS is caused by a microdeletion on chromosome 7 (7q11.23), which encompasses the elastin (ELN) gene and about 27 other genes. The gold standard for WBS laboratory diagnosis is FISH (fluorescence in situ hybridization), which is very costly. As a possible alternative, we investigated the accuracy of three clinical diagnostic scoring systems in 250 patients with WBS diagnosed by FISH. We concluded that all three systems could be used for the clinical diagnosis of WBS, but they all gave a low percentage of false-positive (6.0-9.2%) and false-negative (0.8-4.0%) results. Therefore, their use should be associated with FISH testing. © FUNPEC-RP.

Síndrome de Burnout e o consumo de álcool em funcionários de penitenciárias do município de Itirapina-SP

Pós-graduação em Alimentos e Nutrição - FCFAR

Swimmer syndrome affecting an entire litter of kittens

A síndrome do filhote nadador é uma anormalidade do desenvolvimento caracterizada pelo atraso na capacidade de marcha e deslocamento, a qual se manifesta por volta dos 15 a 20 dias de idade. Os animais apresentam a articulação coxofemoral em constante abdução, deslocando os membros pélvicos lateral e caudalmente. Este trabalho relata uma ninhada de três filhotes felinos, sem raça definida, de 26 dias de idade, acometidos por síndrome do filhote nadador, e discute possíveis causas, complicações e tratamentos. Os filhotes foram submetidos à fisioterapia, algemas e bandagens, as quais mantiveram os membros pélvicos flexionados junto ao corpo. Ao final de sete dias, todos os filhotes apresentavam deambulação normal, e o tratamento proposto pode ser considerado curativo para felinos.

The eleventh reported case of Mulvihill-Smith syndrome in the literature

Background: The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described.Case presentation: This article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient was hospitalized several times for repeated infections, and the presence of multiple melanocytic nevi on his skin was noticed.Conclusions: Based on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome.

Quantification of functional abilities in Rett syndrome: a comparison between stages III and IV

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

Predictors of Beta-Blocker Intolerance and Mortality in Patients After Acute Coronary Syndrome

Purpose: To investigate the predictors of intolerance to beta-blockers treatment and the 6-month mortality in hospitalized patients with acute coronary syndrome (ACS).Methods: This was a single-center, prospective, and longitudinal study including 370 consecutive ACS patients in Killip class I or II. BBs were prescribed according to international guidelines and withdrawn if intolerance occurred. The study was approved by the institutional ethics committee of our university. Statistics: the clinical parameters evaluated at admission, and the related intolerance to BBs and death at 6 months were analyzed using logistic regression (p<0.05) in PATIENTS.Results: BB intolerance was observed in 84 patients and was associated with no prior use of statins (OR: 2.16, 95%CI: 1.26-3.69, p= 0.005) and Killip class II (OR: 2.5, 95%CI: 1.30-4.75, p=0.004) in the model adjusted for age, sex, blood pressure, and renal function. There was no association with ST-segment alteration or left anterior descending coronary artery plaque. Intolerance to BB was associated with the greatest risk of death (OR: 4.5, 95%CI: 2.15-9.40, p<0.001).Conclusions: After ACS, intolerance to BBs in the first 48 h of admission was associated to non previous use of statin and Killip class II and had a high risk of death within 6 months.

Burnout e enfrentamento em jogadores de futebol: fases pré e durante competição

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

Impaired acuity of the approximate number system in 22q11.2 microdeletion syndrome

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)