Interstitial long-arm deletion of chromosome 7 and ectrodactyly

An interstitial deletion of 7q21 was found in a boy with mental retardation, microcephaly, convergent strabismus, micrognathia, genital anomalies, and other findings, including ectrodactyly.

Adventure race's injuries

Objective. - To describe the distribution of frequency of the injuries during adventure competition.Material and methods. - Fifty-five participants who underwent to the second stage of the Caloi Adventure Camp competition answered to a questionnaire about their personal characteristics, training status and injuries.Results. - The age of the athletes was 32 +/- 10 years old and the body mass index (BMI) 23.3 +/- 2.2 kg/m(2). The most frequent injuries occurred during trekking (61%), followed by mountain bike (24%). Abrasions (36.7%) and cuts (24.5%) were the most frequent injuries mentioned. Tissue level lesions occurred in 61.2% of the episodes. The most frequent injuries were contusions (16.3%) at muscular level, and sprain (6.1%) and fracture (6.1%) at osteoarticular system. Related to the body structure, the lower limb was the most affected (49%), mainly ankle (14.3%) and knee (12.2%). In the upper limb (30.6%), arm and forearm were more affected with cuts and abrasions. Neck and trunk were responsible for 20.4% of the injuries. Cramps (31%) and tendinitis (11%) were also mentioned.Conclusion. - The data suggest that it is necessary to create one training approach including prevention and logistics for participants rescue and rapid attendance during the tournament. (C) 2008 Published by Elsevier Masson SAS.

Handgrip strength predicts pressure ulcers in patients with hip fractures

Objective: Pressure ulcer (PU) is a frequent complication of hip fracture. Studies were carried out to identify the risk factors of PU development after hip fractures. The objective of the study was to determine the role of anthropometric measurements and handgrip strength as predictors of PUs in patients with hip fractures during their hospital stay and 30 d after discharge, which has not yet been established.Methods: Ninety-two consecutive patients with hip fractures who were older than 65 y old and admitted to an orthopedic unit were prospectively evaluated. Within the first 72 h of admission, each patient's characteristics were recorded, anthropometric measurements were taken (circumferences of the arm, waist, thigh, calf, triceps, and biceps and subscapular and suprailiac skinfolds), handgrip strength was measured, and blood samples were collected. PU evaluations were performed during the hospital stay and 30 d after hospital discharge.Results: Three patients were excluded because of PUs before hospitalization. Eighty-nine patients (average age 80.6 +/- 7.5 y) were studied; 70.8% were women, and 49.4% developed PUs during their hospital stay. In a univariate analysis, length of hospital stay (P = 0.001) and handgrip strength (P = 0.02), but not body circumferences and skinfolds, were associated with PUs during a hospital stay. Only handgrip strength (P = 0.007) was associated with PUs 30 d after hospital discharge. In a multivariate analysis, only handgrip strength was found to predict PU development at these points.Conclusion: Handgrip strength was found to predict PU development in patients with hip fractures during their hospital stay and 30 d after discharge. (C) 2012 Elsevier B.V. All rights reserved.

Trombose venosa profunda de membros superiores: estudo coorte retrospectivo de 52 casos

OBJETIVO: Rever os fatores predisponentes e a evolução em série de casos de trombose venosa profunda dos membros superiores de nossa instituição. MÉTODOS: Cinqüenta e dois pacientes consecutivos, com trombose venosa profunda dos membros superiores (29 homens e 23 mulheres), idade média de 52,3 anos, documentados por mapeamento dúplex (71,1%), flebografia (11,1%) ou clinicamente (15,6%), foram incluídos no presente estudo. RESULTADOS: As manifestações clínicas foram: dor no antebraço (24 casos - 46,1%), dor no braço (27 casos - 51,9%), edema do membro superior (45 casos - 86,5%), dor à compressão do membro superior (36 casos - 70,2%) e dor à movimentação do mesmo (32 casos - 61,7%). Os principais fatores de risco foram: punção ou acesso venoso (20 casos - 39,1%) e câncer (16 casos - 32,6%). As veias envolvidas foram: umeral (n = 18), axilar (n = 27), subclávia (n = 15) e jugular (n = 11). A embolia pulmonar estava inicialmente presente em quatro casos (7,6%). O tratamento inicial foi feito com heparina não-fracionada intravenosa (64,3%), subcutânea (16,7%), ou heparina de baixo peso molecular (17,1%), seguido de varfarina. Doze pacientes morreram antes da alta, em função de causas não relacionadas à embolia pulmonar. Foram acompanhados os 40 pacientes restantes por período de 3 meses a 10 anos, sendo que dois morreram de causas não relacionadas à embolia pulmonar, um paciente desenvolveu seqüelas pós-trombóticas, como edema residual e limitações aos movimentos, e seis ficaram com discretos sintomas residuais (edema e dor). CONCLUSÕES: A trombose venosa profunda dos membros superiores foi mais freqüente em pacientes submetidos a acessos venosos e com neoplasia em atividade. Comparando com dados da literatura, a evolução dos pacientes sob tratamento exclusivo com anticoagulantes foi, no mínimo, similar a outros tratamentos propostos.

Influence of protein intake and muscle mass on survival in chronic dialysis patients

Introduction: Some studies suggest that high body mass index (BMI) confers survival advantage in dialysis patients, but BMI does not differentiate muscle from fat mass, and the survival advantage conferred by its increase seems to be limited to patients with high muscle mass. Thus, discriminating body components when evaluating nutritional status and survival is highly important. This study evaluated the influence of nutritional parameters on survival in patients on chronic dialysis. Subjects and methods: Anthropometry, bioimpedance, biochemistry, and dietary recall were used to investigate the influence of nutritional parameters on survival in 79 prevalent patients on chronic dialysis. Results: Protein intake <1.2 g/kg/day and creatinine <9.7 mg/dL were independent predictors of mortality in all patients. Regarding dialysis method, protein intake <1.2 g/kg/ day was predictive of mortality among hemodialysis patients, and percent standard mid-arm muscle circumference <80% was identified as a risk factor among peritoneal dialysis patients. Conclusion: Higher muscle mass, possibly favored by a higher protein intake, conferred survival advantage in dialysis patients.

Desnutrição protéico-energética no paciente gastrectomizado

Racional - A gastrectomia traz conseqüências nutricionais inevitáveis mas atenuáveis, dependendo da dietoterapia pós-operatória. Embora observada, essa desnutrição protéico-energética é pouco dimensionada, provavelmente, pela falta de consenso metodológico. Objetivo - Avaliar o grau de desnutrição protéico-energética do paciente gastrectomizado, utilizando-se de indicadores isolados ou combinados. Pacientes e Métodos - Foram estudados 71 pacientes com gastrectomia parcial (n = 53) ou total (n =18) em pós-operatório de 6 a 24 meses e 24-60 meses. Os dados dietéticos, composição corporal e bioquímicos foram analisados de acordo com o tipo de gastrectomia e tempo pós-operatório. Resultados - A cirurgia foi conseqüência de complicações de úlcera péptica (68%) ou a câncer gástrico (32%). A perda de peso foi referida por 70% dos pacientes, sendo maior no grupo gastrectomia total (16 ± 5 kg) do que no grupo gastrectomia parcial (10 ± 6 kg). em geral, os pacientes apresentaram déficit antropométrico, albuminemia normal e baixa ingestão calórica, sugerindo deficiência energética crônica. A redução de hemoglobina, hematócrito e ferro ocorreu em maior intensidade e mais precocemente no grupo gastrectomia total. Assim, quando se associou hemoglobina aos indicadores albumina, linfócitos circunferência do braço e prega cutânea subescapular, a prevalência de desnutrição protéico-energética foi maior e em maior intensidade do que na ausência da hemoglobina. Conclusão - A gastrectomia resultou em desnutrição protéico-energética do tipo marasmática, acompanhada de anemia, mais intensa e precoce na gastrectomia total e gradativa na gastrectomia parcial, assemelhando-se à gastrectomia total no pós-operatório tardio.

Sobrevida e morbidade em prematuros com menos de 32 semanas de gestação na região central do Brasil

OBJETIVO: Avaliar a sobrevida e complicações associadas à prematuridade em recém-nascidos com menos de 32 semanas. MÉTODOS: Estudo prospectivo do tipo coorte. Foram incluídos os nascidos vivos, com idade gestacional entre 25 semanas e 31 semanas e 6 dias, sem anomalias congênitas admitidos em UTI Neonatal, entre 1º de agosto de 2009 e 31 de outubro de 2010. Os recém-nascidos foram estratificados em três grupos: G25, 25 a 27 semanas e 6 dias; G28, 28 a 29 semanas e 6 dias; G30, 30 a 31 semanas e 6 dias, e acompanhados até 28 dias. Foram avaliadas a sobrevida aos 28 dias e a morbidade associadas à prematuridade. Para análise dos resultados, utilizou-se o teste do c², análise de variância, teste de Kruskal-Wallis, razão de risco com intervalo de confiança (IC) e regressão logística múltipla, com significância em 5%. RESULTADOS: A coorte compreendeu 198 prematuros, sendo G25=59, G28=43 e G30=96. O risco de óbito foi significativamente maior em G25 e G28, em relação ao G30 (RR=4,1; IC95% 2,2-7,6 e RR=2,8; IC95% 1,4-5,7). A sobrevida encontrada foi, respectivamente, 52,5, 67,4 e 88,5%. A partir da 26ª semana e peso >700 g, a sobrevida foi superior a 50%. A morbidade foi inversamente proporcional à idade gestacional, exceto para enterocolite necrosante e leucomalácia, que não diferiram entre os grupos. A análise de regressão logística mostrou que a hemorragia pulmonar (OR=3,3; IC95% 1,4-7,9) e a síndrome do desconforto respiratório (OR=2,5; IC95% 1,1-6,1) foram fatores independentes de risco para óbito. Houve predomínio das lesões cerebrais hemorrágicas graves em G25. CONCLUSÕES: Sobrevivência superior a 50% ocorreu a partir da 26ª semana de gravidez e peso >700 g. A hemorragia pulmonar e a síndrome do desconforto respiratório foram preditores independentes de óbito. Há necessidade de identificar e instituir práticas para melhorar a sobrevida de prematuros extremos.

Prevalência de pressão arterial elevada em crianças e adolescentes do ensino fundamental

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Muscle strength assessment among children and adolescents with growing pains and joint hypermobility

OBJETIVO: Avaliar, por meio de teste quantitativo, a força muscular em crianças e adolescentes com dores de crescimento, associada ou não com hipermobilidade articular e comparadas com controles saudáveis. MÉTODO: Quarenta e sete casos de crianças e adolescentes acompanhados por dores de crescimento, sendo 24 com hipermobilidade articular (DC-HA), 23 sem hipermobilidade articular (DC) e 47 controles saudáveis pareados por idade e gênero foram submetidos a dois testes quantitativos para a avaliação da força muscular, o Childhood Myositis Assessment Scale (CMAS) e o Manual Muscle Strength Test (MMT). Os dados antropométricos como altura, peso, índice de massa corporal, prega cutânea tricipital, circunferência média do braço e a área muscular do braço foram comparados entre os três grupos. RESULTADOS: Os três grupos não apresentaram diferença estatística entre as medidas antropométricas. Houve diferença significante entre a mediana da pontuação do CMAS, sendo menores no grupo DC (47, mínimo e máximo 39-52) e DC-HA (46, mínimo e máximo 40-51), comparados com controles (50, mínimo e máximo 45-52; p<0,0001). Dois dos exercícios cronometrados do CMAS, a elevação da cabeça e a duração da elevação das pernas, tiveram menor pontuação nos pacientes comparados aos controles (p<0.0001). A pontuação mediana do MMT no grupo DC (79, mínimo e máximo 73-80) e DC-HA (78, mínimo e máximo 32-80) também apresentou diferença significante, sendo menor nos pacientes que nos controles (80, mínimo e máximo 78-80; p<0,0001). A melhor correlação entre a pontuação do CMAS e MMT foi no grupo DC-HA (Spearman r=0,65; p=0,0007). A aplicação do CMAS e MMT em duas ocasiões apresentou boa concordância e coeficiente de correlação intraclasse de 0,87 (IC 95% 0,64-0,96; p<0,0001) e 0,92 (IC 95% 0,76-0,97; p<0,0001), respectivamente. CONCLUSÃO: Os pacientes com dores de crescimento com ou sem hipermobilidade articular apresentaram fraqueza muscular de leve a moderada quando comparados com controles saudáveis.

Coupling between muscle activities and muscle torques during horizontal-planar arm movements with direction reversal

In this study we investigated the hypothesis that the simple set of rules used to explain the modulation of muscle activities during single-joint movements could also be applied for reversal movements of the shoulder and elbow joints. The muscle torques of both joints were characterized by a triphasic impulse. The first impulse of each joint accelerated the limb to the target and was generated by an initial burst of the muscles activated first (primary mover). The second impulse decelerated the limb to the target, reversed movement direction and accelerated the limb back to the initial position, and was generated by an initial burst of the muscles activated second (secondary movers). A third impulse, in each joint, decelerated the limb to the initial position due to the generation of a second burst of the primary movers. The first burst of the primary mover decreased abruptly, and the latency between the activation of the primary and secondary movers varied in proportion with target distances for the elbow, but not for the shoulder muscles. All impulses and bursts increased with target distances and were well coupled. Therefore, as predicted, the bursts of muscle activities were modulated to generate the appropriate level of muscle torque. (C) 2005 Elsevier Ltd. All rights reserved.

Head, eye and arm coordination in table tennis

The aim of this study was to determine the role of head, eye and arm movements during the execution of a table tennis forehand stroke. Three-dimensional kinematic analysis of line-of-gaze, arm and ball was used to describe visual and motor behaviour. Skilled and less skilled participants returned the ball to cued right or left target areas under three levels of temporal constraint: pre-, early- and late-cue conditions. In the pre- and early-cue conditions, both high and low skill participants tracked the ball early in flight and kept gaze stable on a location in advance of the ball before ball-bat contact. Skilled participants demonstrated an earlier onset of ball tracking and recorded higher performance accuracy than less skilled counterparts. The manipulation of cue condition showed the limits of adaptation to maintain accuracy on the target. Participants were able to accommodate the constraints imposed by the early-cue condition by using a shorter quiet eye duration, earlier quiet eye offset and reduced arm velocity at contact. In the late-cue condition, modifications to gaze, head and arm movements were not sufficient to preserve accuracy. The findings highlight the functional coupling between perception and action during time-constrained, goal-directed actions.

DUPLICATION OF THE SHORT ARM OF THE X-CHROMOSOME IN MOTHER AND DAUGHTER

An 11-year-old girl with short stature, mental retardation, and mild dysmorphic features was found to have an inverted duplication of most of the short arm of the X chromosome [dic inv dup(X)(qter --> p22.3 = p22.3 --> cen:)]. Her mother, who is also short and retarded, carries the same duplication. Fluorescence in situ hybridization with an X chromosome library, and with X centromere-specific alpha satellite and telomere probes, was useful in characterizing the duplication. In most females with structurally abnormal X chromosomes, the abnormal chromosome is inactivated. Although the duplicated X was consistently late replicating in the mother, X chromosome inactivation studies in the proband indicated that in 11 % of her lymphocytes the duplicated X was active.

Assessment of anaerobic power of swimmers: the correlation of laboratory tests on an arm ergometer with field tests in a swimming fool

The aim of this study was to verify the correlation between the Wingate arm crank test outputs (peak power, mean power, and fatigue index), obtained on a specific ergometer, and the performance in crawl stroke swim sprints of 14, 25, 50, and 400 m. The experiment was conducted with 9 healthy male volunteers (18.1 +/- 2.2 years of age; 172 +/- 0.04 cm; 67.7 +/- 5.92 kg and 15.7 +/- 4.57% body fat). on determined days, all individuals were submitted to the Wingate arm crank test and crawl freestyle sprints of 14, 25, 50, and 400 m as they were timed with a stopwatch. The peak power, the mean power, and the fatigue index, which were obtained during the Wingate arm crank test, were not significantly correlated with the maximum swim velocities during the crawl free-style tests of 14 (r = 0.40; r = 0.64; r = 0.11), 25 (r = 0.28; r = 0.39; r = -0.27), 50 (r = 0.03; r = 0.09; r = -0.31), and 400 (r = -0.52; r = -0.37; r = -0.65) m respectively. Thus, it is possible to conclude that the Wingate arm crank test is not suitable to assess the anaerobic power of swimmers under the described experimental conditions.