Immobility reactions under threat: A contribution to human defensive cascade and PTSD.

Violence exacts a burden on public health. Gun violence is a major trigger for motor defensive reactions in humans and post-traumatic stress disorder (PTSD) is its main psychiatric sequela. However, studies of the human defensive cascade, especially the motor reactions, are at an early stage. This review focuses on studies that employ stabilometry, a methodology that assesses whole body motor reactions, to address defensive behaviors to violence-related threats. Special attention is given to three reactions: "attentive immobility", "immobility under attack" and "tonic immobility", with emphasis on the latter - a peritraumatic reaction which has been strongly associated with the severity of PTSD. These reactions are characterized by reduced body sway and bradycardia, except tonic immobility that presents robust tachycardia. The advances made by investigations into the immobility reactions of the human defensive cascade contribute to helping to bridge the gap between human and non-human species. Furthermore, progresses in basic research to objectively monitor motor defensive reactions under threat can help to develop a dimensional, trans-diagnostic approach to PTSD.

Avoidance of smoking: the impact of warning labels in Brazil.

BACKGROUND: Research on human emotion shows that pictures drive the activity of specialised brain networks affecting attitude and behaviour. Pictorial warnings on cigarette packages are considered one of the most effective ways to convey information on the health consequences of smoking. However, few studies have evaluated the effectiveness of warning labels to elicit avoidance of smoking. OBJECTIVES: To investigate the impact of pictorial health warnings conveyed by the Brazilian tobacco control programme through a well-established psychometric tool designed for studies on emotion and behaviour. METHODS: Graphic Brazilian cigarette warnings labels were evaluated. They consisted of the two sets of warning pictures displayed in 2002-4 (n = 9) and 2004-8 (n = 10). Pleasant, unpleasant and neutral pictures selected from a standard catalogue were used as controls. Undergraduate students (n = 212, 18% smokers) evaluated the emotional content of each picture in two affective dimensions: hedonic valence and arousal. Participants were not provided with the sources of distinction between control and warning pictures. RESULTS: The judgements of hedonic content of the warning pictures ranged from neutral to very unpleasant. None was classified as highly arousing. Smokers judged warning pictures representing people smoking significantly more pleasant than pictures without smoking scenes, and significantly more so than non-smokers. No significant differences between smokers and non-smokers were found for warning pictures without these smoking scenes. CONCLUSION: Previous studies have shown that the most threatening and arousing pictures prompt the greatest evidence of defensive activation. Emotional ratings of Brazilian warning pictures described them as unpleasant but moderately arousing. To intensify avoidance of the packages, future graphic warnings should therefore generate more arousal. The ratings for the Brazilian warning pictures indicated that, except for those depicting people smoking, judgements by smokers and non-smokers were similar, suggesting a potential applicability in both prevention and cessation. Smoking cues, however, should be avoided.

Enfermidade de Charcot-Marie-Tooth - Transmissao dominante ligada ao X. / Charcot-Marie-Tooth disease - Dominant transmission X linked

Os AA. estudam uma familia com a doenca de Charcot-Marie-Tooth, na qual se verifica forma rara de transmissao genetica: dominante ligada ao cromossoma X. A concomitancia com a anemia falciforme e comentada. O aconselhamento genetico, motivo que levou o proposito a consulta, e analisado em seus diferentes aspectos

Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia.

We describe a girl born to a mother who took birth control pills and antihistamines during the first trimester of pregnancy. Congenital abnormalities included plagiocephaly, abnormalities of left ear, facial asymmetry, abnormalities of head hair pattern, cleft lip and palate, bifid tongue, left torticollis, hemivertebrae, left radial hypoplasia and absent thumb, left inguinal hernia, patient ductus arteriosus, narrowing of the thoracic aorta, and hypoplastic right pulmonary artery. The karyotype obtained from peripheral lymphocytes and from fibroblasts from the left side of the body was 46XX whereas fibroblasts from the right side revealed 46XX/47XX+7 mosaicism.

PIP: The case is described of a child born in October 1975 by normal vaginal delivery to a 27-year old white woman who had taken Ortho Novum for about 6 weeks at the beginning of pregnancy and the antihistamine preparation Singlet (phenylephrine, chlorpheniramine, and acetaminophen) continuously during the pregnancy. The baby was born post-maturely and had peeling skin and long nails. Birth weight was 3.26 kg. Congenital abnormalities included plagiocephaly, abnormalities of left ear, facial asymmetry, abnormalities of head hair pattern, cleft lip and palate, bifid tongue, left torticollis, hemivertebrae, left radial hypoplasia and absent thumb, left inguinal hernia, patent ductus arteriosus, narrowing of the thoracic aorta, and hypoplastic right pulmonary artery. The karyotype obtained from peripheral lymphocytes and from fibroblasts from the left side of the body was 46XX, whereas fibroblasts from the right side revealed 46XX/47XX+7 mosaicism. The child has many of the features of Goldenhar syndrome (oculoauriculovertebral dysplasia) but lacks both dermoids of the eyes and colobomata of the upper eyelid, and has in addition unilateral radial hypoplasia, severe cardiac malformation, and mosaicism for trisomy 7. The relationship of the mosaicism for trisomy 7 and the clinical findings remains obscure, as does the relationship of the medications taken by the mother to the malformations.

Multiple pterygium syndrome.

After treating a 12-year-old patient with multiple pterygium syndrome, we ascertained the minimal diagnostic criteria of pterygia in the neck, axilla, antecubital, and even popliteal areas; evidence supports autosomal recessive inheritance for this syndrome.

Femoral hypoplasia-unusual facies syndrome, from another viewpoint.

A female infant with the "femoral hypoplasia-unusual facies" syndrome is presented. Most of the findings observed in this child have also been described in the "caudal regression syndrome". The similarity and probable identity between these two syndromes is discussed on the basis of our patient and others from the literature.

Phenotypic and genetic analysis of the silver-Russell syndrome.

A family is reported in which two half-siblings present clinical findings suggestive of the Silver-Russell syndrome (SRS). The available published literature on SRS is reviewed and the variable expression of the syndrome demonstrated. A review of published pedigrees of the syndrome suggests that in a small percentage of cases, SRS has a genetic etiology.