PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy

Mutations in PUS3, which encodes a highly conserved enzyme responsible for posttranscriptional modification of tRNA, have been shown in a single family to be a cause of nonsyndromic intellectual disability (ID).1 In this study, we used whole-exome sequencing (WES) to identify biallelic mutations in PUS3 associated with syndromic ID with dysmorphic features, white matter disease (WMD), and renal abnormalities in a nonconsanguineous family from Brazil

More Accurate Insight into the Incidence of Human Rabies in Developing Countries through Validated Laboratory Techniques

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Placebo and other psychological interactions in headache treatment

We present a theory according which a headache treatment acts through a specific biological effect (when it exists), a placebo effect linked to both expectancy and repetition of its administration (conditioning), and a non-specific psychological effect. The respective part of these components varies with the treatments and the clinical situations. During antiquity, suggestions and beliefs were the mainstays of headache treatment. The word placebo appeared at the beginning of the eighteenth century. Controversies about its effect came from an excessive interpretation due to methodological bias, inadequate consideration of the variation of the measure (regression to the mean) and of the natural course of the disease. Several powerful studies on placebo effect showed that the nature of the treatment, the associated announce, the patients’ expectancy, and the repetition of the procedures are of paramount importance. The placebo expectancy is associated with an activation of pre-frontal, anterior cingular, accumbens, and periacqueducal grey opioidergic neurons possibly triggered by the dopaminergic meso-limbic system. In randomized control trials, several arms design could theoretically give information concerning the respective part of the different component of the outcome and control the natural course of the disease. However, for migraine and tension type headache attacks treatment, no three arm (verum, placebo, and natural course) trial is available in the literature. Indirect evidence of a placebo effect in migraine attack treatment, comes from the high amplitude of the improvement observed in the placebo arms (28% of the patients). This figure is lower (6%) when using the harder criterium of pain free at 2 h. But these data disregard the effect of the natural course. For prophylactic treatment with oral medication, the trials performed in the last decades report an improvement in 21% of the patients in the placebo arms. However, in these studies the duration of administration was limited, the control of attacks uncertain as well as the evolution of the co-morbid psycho-pathology. Considering the reviews and meta-analysis of complex prophylactic procedures, it must be concluded that their effect is mostly linked to a placebo and non-specific psychological effects. Acupuncture may have a slight specific effect on tension type headache, but not on migraine. Manual therapy studies do not exhibit difference between manipulation, mobilization, and controls; touch has no proven specific effect. A comprehensive efficacy review of biofeedback studies concludes to a small specific effect on tension type headache but not on migraine. A review of behavioral treatment conclude to an interesting mean improvement but did not demonstrated a specific effect with the exception of a four arm study including a pseudo meditation control group. Expectation-linked placebo, conditioning, and non-specific psychological effects vary according clinical situations and psychological context; likely low in RCT, high after anempathic medical contact, and at its maximum with a desired charismatic healer. The announcements of doctors strongly influence the beliefs of patients, and in consequence their pain and anxiety sensibilities; this modulates the amplitude of the placebo and the non-specific psychological effects and is therefore a major determinant of the therapeutic success. Furthermore, any repetitive contact, even through a placebo, may interfere positively with the psychopathological co-morbidity. One has to keep in mind that the non-specific psychological interactions play a major role in the improvement of the majority of the headache sufferers

Intervenção psicomotora em crianças de nível socioeconômico baixo

Visou-se identificar o perfil psicomotor de crianças de baixo nível socioeconômico e verificar o efeito nelas de um programa de intervenção psicomotora. Participaram do estudo seis crianças do sexo masculino, na faixa de 10 a 12 anos (11,5±0,92). Os participantes foram avaliados utilizando-se uma bateria psicomotora que avalia sete fatores psicomotores: tonicidade, equilibração, lateralização, noção do corpo, estruturação espaço-temporal, praxia global e fina; de acordo com o desempenho da criança, os fatores são pontuados de 1 a 4; o escore 1 refere-se ao perfil apráxico, 2 ao dispráxico, 3 ao eupráxico e 4 ao hiperpráxico. Com base nas dificuldades detectadas foi elaborado um programa de intervenção psicomotora, aplicado durante três meses, em 16 sessões de uma hora de duração, duas vezes por semana. Ao término da intervenção os participantes foram reavaliados. Pela avaliação inicial, o perfil dos participantes foi predominantemente eupráxico nos fatores equilibração, lateralização, noção do corpo, praxia global e praxia fina; nos fatores tonicidade e estruturação espaço-temporal o perfil foi predominantemente dispráxico. Após o programa de intervenção houve aumento estatisticamente significativo (pThis study aimed at outlining the psychomotor profile of socioeconomically disadvantaged children and at verifying the effect on them of an assessment-based psychomotor training program. Participants were six 10-to-12 year-old children (mean age 11.5±0.92), who were evaluated before and after the program by means of a psychomotor battery which assesses seven categories: tonus, equilibrium, lateralisation, body perception, time-space orientation, gross and fine praxis; scores range from 1 to 4, determining the following profiles: 1, apraxic; 2, dyspraxic; 3, eupraxic; 4, hyperpraxic. By drawing on children's difficulties, a psychomotor playing program was applied during 3 months, in 16 one-hour sessions, twice a week. The initial evaluation showed participants profile to be predominantly eupraxic in equilibrium, lateralisation, body perception, gross and fine praxis; profile was mostly dyspraxic as to tonus and time-space orientation. After the program, scores significantly improved in tonus, equilibration, time-space orientation, gross, and fine praxis (p<0.05), thus suggesting that the program applied was able to benefit psychomotor performance of low socioeconomic status children