Sexual violence stands out nationally as it is an important public health problem. Despite vitalizing various social segments, its incidence in historically vulnerable groups reflects a rooted patriarchal culture and gender violence. Although government efforts have advanced the quality of assistance, there are still omissions in the completeness of support. Thus, this study aimed to characterize the clinical and sociodemographic profile of female victims of sexual violence treated at a referral center in Alagoas during the period 2007-2016. Analytical cross-sectional study of historical series was performed with secondary data for the analysis of 920 records of care collected between August/2017 to December/2018 in the referral center for women's health located in Maceió, Alagoas. The profile of the victims was characterized as adolescents (57.0%), brown (68.5%), single (80.8%), students (59.6%) and those who had completed elementary school (51.3%). The most frequent type of violence was rape (96.5%), committed at home (39.4%), by a single aggressor (85.9%), during the nighttime (43.1%). Extra-family violence predominated (87.9%) with an unknown perpetrator (59.4%). In the intrafamilial forms, stepfather (4.0%) and father (3.2%) were the main perpetrators. Pregnancy as a consequence of violence was present in only 2.8% of cases. However, the minority managed to perform legal abortion in the institution (31.8%). This study highlights the profile of victims of sexual violence in Alagoas through a descriptive approach focusing on the various factors surrounding it.
Introduction: Syringomyelia or hydromyelia is a rare neurological disorder of cerebrospinal fluid circulation caused by a pathologically dilated central spinal canal, manifested as dissociated sensory loss, chronic pain and motor deficits. The pathogenesis is not completely understood, usually being a diagnostic challenge. The authors describe a case of syringomyelia in a ten-year-boy associated with depression, as a challenging condition, emphasizing diagnostic difficulties and the multidisciplinary approach. Clinical case: The patient was admitted to the emergency room with pain, gait abnormality, arthralgia and dysesthesia in limbs with subacute onset. Neurological examination revealed tetraparesis with hypoesthesia and hypopallesthesia in limbs, associated with emotional lability. Feelings of worthlessness and abandonment in psychiatric evaluation resulted in diagnosis of depression. For persistent pain assessment, a magnetic resonance imaging of the spinal cord showed dilatation of the central canal, compatible with hydromyelia. To establish if the sensitive symptoms were secondary to damage of spinothalamic pathway, a laser evoked potential was performed, demonstrating integrity of Aδ-fibers, excluding, therefore, impairment of the nociceptive pathways only in the segments analyzed. In view of the findings, the patient was discharged from the hospital, still with some gait impairment, taking selective serotonin reuptake inhibitors for depression and carbamazepine for chronic pain with progressive improvement. Conclusion: This report explores the complexity of diagnosis of hydromyelia in children, which are difficult to examine accurately, particularly on sensitive examination, whose objective alteration in this case made us consider this rare disease. We believe that rigorous clinical follow-up, with multidisciplinary intervention, is extremely important to achieve the best response to treatment.
Introduction: Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy, with a diverse phenotypic and genotypic spectrum. The main clinical features are onset during infancy, slowly progressing symptoms and foot deformities, especially if there is a positive family history, although the lack of family awareness can be present. Over 70 distinct genes have been associated, however, their genetic diagnosis can be challenging, especially if we consider the fact that the same gene can transmit disease either dominantly or recessively. The aim to describe a case of CMT1F as a rare case of recessive demyelinating hereditary neuropathy. Clinical case: A 25-year-old woman, born of consanguineous parents, had history of distal weakness and burning sensation in lower limbs, with onset in infancy. Her childhood was marked for abnormal gait and falls, and evolved with foot deformities, requiring surgical corrections. The symptoms progressed slowly and reached upper limbs in few years. On physical evaluation was noted: muscle weakness of upper and lower limbs, predominantly distal, associated with atrophy, foot drop and absent reflexes. Electroneuromyography demonstrated signs of chronic demyelinating polyneuropathy. An initial sequencing analysis of the PMP22 gene was indicated, with normal results. A panel for neuropathies was performed, showing a homozygous frameshift mutation in NEFL (p.Lys362Glufs*2; c.1084_1085delAA), classified as probably pathogenic variant. Conclusion: CMT due to bi-allelic NEFL mutations is a rare condition that should be considered in hereditary demyelinating neuropathy, especially when recessive inheritance is suspected. Our study illustrates this condition and brings attention to the importance of the disponibility of high throughput genetic tests.
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