Artrogripose Múltipla Congênita: Relato de dois casos / Arthrogryposis Multiplex Congenita: Report of two cases

RESUMO: A Artrogripose Múltipla Congênita (AMC) é uma síndrome rara, que representa um grupo de condições congênitas caracterizado por contraturas articulares em duas ou mais articulações, não progressivas, geralmente simétricas, de etiologia desconhecida e que pode estar associada a outras malformações, como viscerais e neurológicas. Apresenta-mos dois casos isolados com achados característicos de AMC, atendidos em ambulatório de pediatria de alto risco de uma cidade do Oeste do Paraná. Caso 1: lactente, sexo feminino, 14 dias de vida, com redução dos movimentos fetais referidos pela mãe, apresentando malformações envolvendo somente os membros, visualizadas logo após o nasci-mento. Caso 2: lactente, sexo masculino, quatro meses de vida, com diagnóstico de hipocinesia fetal ao ultrassom obstétrico de 23 semanas, ao nascimento apresenta contraturas dos membros e disfunção do sistema nervoso cen-tral. O diagnóstico da artrogripose é complexo e essencialmente clínico, sendo necessária uma anamnese meticulosa, contemplando uma avaliação da gestação, via de parto, história familiar e um exame físico minucioso, classificando quais os tipos de contraturas, membros envolvidos, presença de musculatura alterada e de alterações neurológicas, a fim de diferenciar a AMC das outras síndromes que também cursam com contraturas articulares. O seguimento e tratamento dos lactentes com artrogripose devem ocorrer em acompanhamento multidisciplinar devido às variadas manifestações que a doença pode apresentar e à característica de recidiva ao longo dos anos. (AU)

ABSTRACTArthrogryposis Multiple Congenita (AMC) is a rare syndrome that represents a group of congenital conditions character-ized by joint contractures in two or more joints, non-progressive, usually symmetrical, of unknown etiology and which may be associated with other malformations, such as visceral and neurological. We present two isolated cases with characteristic features of AMC, seen in a high-risk pediatrics outpatient clinic in a city in western Paraná. Case 1: infant, female, 14 days old, with reduced fetal movements reported by the mother, presenting malformations involving only the limbs, seen immediately after birth. Case 2: infant, male, four months old, diagnosed with fetal hypokinesia on 23-week obstetric ultrasound, at birth, presents limb contractures and central nervous system dysfunction. The diagnosis of ar-throgryposis is complex and essentially clinical, requiring a meticulous anamnesis, including an assessment of pregnan-cy, delivery, family history and a thorough physical examination, classifying what types of contractures, involved limbs, presence of altered musculature and neurological changes to differentiate AMC from other syndromes that also have joint contractures. The aftercare and treatment of infants with arthrogryposis must occur in multidisciplinary follow-up due to the varied manifestations that the disease may present and the characteristic of recurrence over the years. (AU)

Sepsis: evolving concepts and challenges

Sepsis remains a major cause of morbidity and mortality worldwide, with increased burden in low- and middle-resource settings. The role of the inflammatory response in the pathogenesis of the syndrome has supported the modern concept of sepsis. Nevertheless, a definition of sepsis and the criteria for its recognition is a continuous process, which reflects the growing knowledge of its mechanisms and the success and failure of diagnostic and therapeutic interventions. Here we review the evolving concepts of sepsis, from the "systemic inflammatory response syndrome triggered by infection" (Sepsis-1) to "a severe, potentially fatal, organic dysfunction caused by an inadequate or dysregulated host response to infection" (Sepsis-3). We focused in the pathophysiology behind the concept and the criteria for recognition and diagnosis of sepsis. A major challenge in evaluating the host response in sepsis is to characterize what is protective and what is harmful, and we discuss that, at least in part, the apparent dysregulated host response may be an effort to adapt to a hostile environment. The new criteria for recognition and diagnosis of sepsis were derived from robust databases, restricted, however, to developed countries. Since then, the criteria have been supported in different clinical settings and in different economic and epidemiological contexts, but still raise discussion regarding their use for the identification versus the prognostication of the septic patient. Clinicians should not be restricted to definition criteria when evaluating patients with infection and should wisely use the broad array of information obtained by rigorous clinical observation.

Associação da ocorrência do ectima contagioso (ORF vírus) em ovinos com os cuidadores desses animais / Occurrence of the Association contagious ecthyma (ORF virus) in sheep with these animals' caregivers

A enfermidade ectima contagioso está difundida em todo o estado de São Paulo. Foram amostrados 42 (8,64%) cuidadores de animais e 444 (91,36%) ovinos (n=486). A prevalência de reagentes para vírus-neutralização foi de 67% (IC95%=62-71%) nos ovinos, e em seus cuidadores de 76% (IC95%=63-89%), sendo P=0,22, ou seja, não houve diferença estatística significativa entre as espécies. A distribuição dos títulos teve diferença estatística significativa entre as espécies, com P=0,0048. As variações de titulação foram de 0,6 a 2,1 tanto nos ovinos quanto nos seus cuidadores. Dentre os 42 cuidadores de ovinos participantes do estudo, 32 apresentaram títulos de anticorpos expressos por log10 acima de 0,6.(AU)

These diseases are all widespread in the State of São Paulo. 42 (8.64%) animal caregivers and 444 (91.36%) sheep (n=486) were sampled. The reagents Prevalence paragraph virus neutralization was 67% (95% CI = 62-71%) in sheep and 76% (95% CI = 63-89%) for caregivers, with P=0.22 not being a statistically significant difference between the species. One of the distribution titles had significant difference between statistics as species with P=0.0048. The titration variations were 0.6 to 2.1, both in sheep and their caregivers. Among the 42 sheep caregivers participating in the study, 32 had antibody securities denominated in log10 above 0.6.(AU)

Topographic abnormality of slow cortical potentials in schizophrenia

A recent study from our laboratory has provided evidence for the generation of slow potentials occurring in anticipation to task-performance feedback stimuli, in multiple association cortical areas, consistently including two prefrontal areas. In the present study, we intended to determine whether these slow potentials would indicate some abnormality (topographic) in schizophrenic patients, and thus serve as an indication of abnormal association cortex activity. We recorded slow potentials while subjects performed a paired-associates memory task. A 123-channel EEG montage and common average reference were used for 20 unmedicated schizophrenic (mean duration of illness: 11.3 ± 9.2 years; mean number of previous hospitalizations: 1.2 ± 1.9) and 22 healthy control subjects during a visual paired-associates matching task. For the topographic analysis, we used a simple index of individual topographic deviation from normality, corrected for absolute potential intensities. Slow potentials were observed in all subjects. Control subjects showed a simple spatial pattern of voltage extrema (left central positive and right prefrontal negative), whereas schizophrenic patients presented a more complex, fragmented pattern. Topographic deviation was significantly different between groups (P < 0.001). The increased topographic complexity in schizophrenics could be visualized in grand averages computed across subjects. Increased topographic complexity could also be seen when grand averages were computed for subgroups of patients assembled either according to task-performance (high versus low) or by their scores on psychopathological scales. There was no significant correlation between topographic deviation and psychopathology scores. We conclude that the slow potential topographic abnormalities of schizophrenia indicate an abnormality in the configuration of large-scale electrical activity in association cortices.

Absence-like seizures in adult rats following pilocarpine-induced status epilepticus early in life

Administration of pilocarpine causes epilepsy in rats if status epilepticus (SE) is induced at an early age. To determine in detail the electrophysiological patterns of the epileptogenic activity in these animals, 46 Wistar rats, 7-17 days old, were subjected to SE induced by pilocarpine and electro-oscillograms from the cortex, hippocampus, amygdala, thalamus and hypothalamus, as well as head, rostrum and vibrissa, eye, ear and forelimb movements, were recorded 120 days later. Six control animals of the same age range did not show any signs of epilepsy. In all the rats subjected to SE, iterative spike-wave complexes (8.1 ± 0.5 Hz in frequency, 18.9 ± 9.1 s in duration) were recorded from the frontal cortex during absence fits. However, similar spike-wave discharges were always found also in the hippocampus and, less frequently, in the amygdala and in thalamic nuclei. Repetitive or single spikes were also detected in these same central structures. Clonic movements and single jerks were recorded from all the rats, either concomitantly with or independently of the spike-wave complexes and spikes. We conclude that rats made epileptic with pilocarpine develop absence seizures also occurring during paradoxical sleep, showing the characteristic spike-wave bursts in neocortical areas and also in the hippocampus. This is in contrast to the well-accepted statement that one of the main characteristics of absence-like fits in the rat is that spike-wave discharges are never recorded from the hippocampal fields.