RESUMO CONTEXTO: A pandemia da COVID-19 tem alterado o funcionamento de serviços de endoscopia digestiva pelo mundo. OBJETIVO: O presente estudo tem por objetivo medir o número de exames endoscópicos de urgência/emergência realizados em um hospital público brasileiro, comparando-o ao mesmo período do ano anterior, além de avaliar os fatores de risco dos pacientes com COVID-19 que realizaram exame endoscópico por hemorragia digestiva alta (HDA). MÉTODOS: Estudo retrospectivo, transversal, observacional e unicêntrico. Foram avaliados todos os exames endoscópicos de urgência/emergência realizados em pacientes acima de 18 anos, nos períodos de março a agosto dos anos de 2019 e 2020. Os pacientes com COVID-19 incluídos foram diagnosticados por RT-PCR, acima de 18 anos, com informações completas em prontuário. As variáveis avaliadas foram: tipo de exame endoscópico, idade, sexo, comorbidades, tempo de internação, d-dímero, necessidade de UTI e ventilação mecânica durante a internação. A comparação dos grupos em relação a variáveis quantitativas foi feita através do teste t de Student para amostras independentes ou o teste não-paramétrico de Mann-Whitney. As variáveis categóricas foram avaliadas pelo teste exato de Fisher. Valores de P<0,05 indicaram significância estatística. RESULTADOS: Observaram-se 130 exames endoscópicos de urgência/emergência no período avaliado em 2020, e 97 em 2019. No período do estudo foram internados 631 pacientes por COVID-19, dos quais 16 realizaram exame endoscópico de urgência/emergência, sendo 1,6% por HDA. Dentre as variáveis analisadas, necessidade de UTI e/ou ventilação mecânica durante o internamento foram estatisticamente significativos como risco para desenvolvimento de HDA. CONCLUSÃO: O presente estudo mostra que para a realidade local houve incremento de exames endoscópicos de urgência/emergência durante a pandemia. Dentre os pacientes internados com o novo coronavírus, há maior risco de HDA naqueles que necessitam de UTI e/ou ventilação mecânica.

ABSTRACT BACKGROUND: The COVID-19 pandemic has changed digestive endoscopy services around the world. OBJECTIVE: This study aimed to measure the number of urgent/emergency endoscopic procedures performed in a Brazilian hospital, comparing it to the same period in the previous year, and to identify risk factors in COVID-19 patients undergoing endoscopic procedures for upper gastrointestinal bleeding (UGIB). METHODS: This was a retrospective, cross-sectional, observational, single-center study. The study evaluated urgent/emergency endoscopic procedures performed on adult patients from March to August in 2019 and 2020. The COVID-19 patients included were diagnosed using RT-PCR, aged over 18 years with complete medical record information. The variables evaluated were age, sex, comorbidities, length of stay, D-dimer, need for intensive care unit (ICU) and mechanical ventilation. Student’s t-test for independent samples or the non-parametric Mann-Whitney test was used to compare quantitative variables. Categorical variables were analyzed using Fisher’s exact test. A P-value <0.05 indicated statistical significance. RESULTS: A total of 130 urgent/emergency endoscopic procedures were performed in 2020 and 97 in 2019. During the study period, 631 patients were hospitalized due to COVID-19, of whom 16 underwent urgent/emergency endoscopic procedures, 10 (1.6%) due to UGIB. Of the variables analyzed, the need for ICU and/or mechanical ventilation during hospitalization was statistically significant as a risk factor for UGIB. CONCLUSION: This study showed increased urgent/emergency endoscopic procedures during the pandemic at the study site. Among the patients hospitalized with the novel coronavirus, there is a higher risk for UGIB in those needing ICU and/or mechanical ventilation.

OBJETIVO: A doença de Wilson (DW) é um erro inato do metabolismo causado por abnormalidades no gene ATP7B, que codifica uma proteína transportadora de cobre. Neste estudo, avaliamos as mutações do gene ATP7B em um grupo de pacientes do sul do Brasil. MÉTODOS: Foram estudados 36 pacientes com DW e classificados do ponto de vista clínico e epidemiológico. Em 23 pacientes, o gene ATP7B foi analisado. RESULTADOS: A substituição c.3207C>A no éxon 14 foi a mutação mais comum seguida pela mutação c.3402delC no éxon 15 . A mutação c.2018-2030del13 no éxon 7 e a c.4093InsT no éxon 20 são relatadas pela primeira vez na literatura. CONCLUSÃO: A mutação do gene ATP7B, com a substituição c.3207C>A no éxon 14 foi a mais frequente. Esta mutação é a mais comumente encontrada em pacientes europeus.

OBJECTIVE: Wilson's disease (WD) is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil. METHODS: 36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed. RESULTS: Fourteen distinct mutations were detected in at least one of the alleles. The c.3207C>A substitution at exon 14 was the most common mutation (allelic frequency=37.1%) followed by the c.3402delC at exon 15 (allelic frequency=11.4%). The mutations c.2018-2030del13 at exon 7 and c.4093InsT at exon 20 are being reported for the first time. CONCLUSION: The c.3207C>A substitution at exon 14, was the most common mutation, with an allelic frequency of 37.1%. This mutation is the most common mutation described in Europe.

BACKGROUND: Long-term data on the clinical follow-up and the treatment effectiveness of Wilson's disease are limited because of the low disease frequency. This study evaluated a retrospective cohort of Wilson's disease patients from southern Brazil during a 40-year follow-up period. METHODS: Thirty-six Wilson's disease patients, diagnosed from 1971 to 2010, were retrospectively evaluated according to their clinical presentation, epidemiological and social features, response to therapy and outcome. RESULTS: Examining the patients' continental origins showed that 74.5% had a European ancestor. The mean age at the initial symptom presentation was 23.3 ± 9.3 years, with a delay of 27.5 ± 41.9 months until definitive diagnosis. At presentation, hepatic symptoms were predominant (38.9%), followed by mixed symptoms (hepatic and neuropsychiatric) (30.6%) and neuropsychiatric symptoms (25%). Kayser-Fleischer rings were identified in 55.6% of patients, with a higher frequency among those patients with neuropsychiatric symptoms (77.8%). Eighteen patients developed neuropsychiatric features, most commonly cerebellar syndrome. Neuroradiological imaging abnormalities were observed in 72.2% of these patients. Chronic liver disease was detected in 68% of the patients with hepatic symptoms. 94.2% of all the patients were treated with D-penicillamine for a mean time of 129.9 ± 108.3 months. Other treatments included zinc salts, combined therapy and liver transplantation. After initiating therapy, 78.8% of the patients had a stable or improved outcome, and the overall survival rate was 90.1%. CONCLUSION: This study is the first retrospective description of a population of Wilson's disease patients of mainly European continental origin who live in southern Brazil. Wilson's disease is treatable if correctly diagnosed, and an adequate quality of life can be achieved, resulting in a long overall survival.

RACIONAL: A hipertensão portal é a causa principal das complicações da cirrose hepática, traduzidas clinicamente por circulação colateral visível na parede abdominal, ascite e varizes esofágicas. OBJETIVO: Avaliar a capacidade do ecodoppler do sistema porta no diagnóstico de alterações esôfago-gástricas endoscópicas secundárias à hipertensão porta em pacientes com cirrose hepática. PACIENTES E MÉTODOS: Cento e oitenta e seis pacientes dos ambulatórios de gastroenterologia e hepatologia do Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, PR, foram selecionados para avaliação. Destes, 145 completaram todas as etapas e 133 puderam ser incluídos na análise final dos dados. Todos foram submetidos a endoscopia digestiva alta, visando determinar presença e grau de varizes esofágicas e gástricas e de gastropatia congestiva e ao ecodoppler do sistema porta para medir/aferir pico de velocidade sistólica da veia porta, diâmetro das veias porta e esplênica, tamanho do baço, presença de recanalização da veia umbilical e de fluxo hepatofugal. RESULTADOS: Os pacientes com varizes esofágicas e gástricas tiveram diferença significativa do tamanho do baço quando comparados com os pacientes sem essas alterações. No entanto, a exatidão e a especificidade deste parâmetro não foi adequada. O diagnóstico de gastropatia congestiva pode ser predito de maneira significativa, tanto pelo diâmetro da veia porta, quanto pelo da esplênica e também pelo tamanho do baço. Da mesma forma, todavia, a exatidão e especificidade destes parâmetros foram ruins. As medidas foram validadas pela construção de curvas ROC ("Receiver Operating Characteristic"), cujas áreas sob as curvas foram sempre menores que 0,8. CONCLUSÃO: Nesta série de pacientes não houve boa correlação dos parâmetros do ecodoppler do sistema porta com a presença das principais alterações endoscópicas (varizes esofágicas, varizes gástricas, gastropatia congestiva) em pacientes com cirrose hepática.

BACKGROUND: The portal hypertension in cirrhotic patients is the main cause of this illness complication, that are clinically translated to visible collateral circulation in the abdominal wall, ascites and esophageal varices. AIM: To evaluate if the portal system echodoppler is able to estimate the presence of esophageal varices, gastric varices and congestive gastropathy in patients with hepatic cirrhosis. PATIENTS AND METHODS: One hundred and eighty six patients of the gastroenterology and hepatology ambulatory of the Clinical Hospital of the Federal University of Paraná, Curitiba, PR, Brazil, had been selected for evaluation. Of those, 145 had completed all the stages of the evaluation and 133 had been enclosed in the final analysis. All had been submitted to high digestive endoscopy for evaluation of esophagogastric varices and congestive gastropathy and then to Doppler ultrasound of the portal system with study of the systolic peak speed of the portal vein, diameter of the portal and splenic vein and spleen size, presence of the umbilical vein recanalization and hepatofugal flow. RESULTS: The patients with esophagogastric varices had significant difference of the spleen size when compared to patients without these change. However, none of the Doppler ultrasound parameters showed good accuracy and specificity in this group of cirrhotic patients. Congestive gastropathy patients had their diagnosis predict with significant manner not only by the portal and splenic vein diameter but also by the spleen size. Similarly to that described above, they do not have a good accuracy and specificity. These evaluations were validated by the construction of ROC (Receiver Operating Characteristic) curves, whose areas below the curves had always been less than 0,8. CONCLUSION: There was not a good correlation of the Doppler ultrasound parameters of the portal system to the presence of the main endoscopic alterations (esophagogastric varices and congestive gastropathy) in patients with hepatic cirrhosis.

A síndrome de Parsonage-Turner é uma desordem rara de etiologia ainda indeterminada, contudo com fortes evidências de associação a infecções virais inclusive pelo vírus HIV, que afeta a cintura escapular e desencadeia dor e fraqueza da musculatura do ombro e da extremidade superior. O diagnóstico raramente é feito no início do quadro e poucos exames laboratoriais podem ser úteis, com destaque para a eletroneuromiografia. Seu tratamento é basicamente observacional e de controle dos sintomas e a recuperação é esperada na maioria dos pacientes. Por se tratar de uma enfermidade rara e de difícil diagnóstico clínico, os autores relatam o caso de um paciente com quadro clínico laboratorial compatível com a síndrome de Parsonage-Turner associada à soropositividade ao vírus da imunodeficiência adquirida.

Parsonage-Turner syndrome is a rare disorder of unknown etiology, nevertheless with high evidences of association with viral infections, including HIV, which affects the shoulder girdle and unleash pain and weakness of the shoulder and upper extremity. The diagnosis is rarely made in acute setting and few diagnostic tests are helpful, except for electroneuromyography. The treatment is basically supportive and full recovery is expected in most patients. For being a rare ailment allied with difficult diagnosis, the authors report a case of a patient with clinical and laboratorial findings of Parsonage-Turner syndrome associated with acquired immunodeficiency virus seropositivity.

OBJETIVO: descrever sobre a prevalência e características da epilepsia em crianças com paralisia cerebral atendidas num serviço terciário. MÉTODO: um total de 100 pacientes com paralisia cerebral foi estudado retrospectivamente, tendo como critérios de inclusão o seguimento regular por pelo menos 2 anos. Os tipos e a incidência de epilepsia foram correlacionados com as diferentes formas de paralisia cerebral. Outros fatores associados com a ocorrência de epilepsia como idade da primeira crise, crises neonatais e história familiar de epilepsia também foram analisados. RESULTADOS: o tempo de seguimento variou de 24 a 151 meses (média 57 meses). A prevalência total de epilepsia foi 62%. Os pacientes com as formas hemiplégicas e tetraplégicas de paralisia cerebral tiveram a maior incidência de epilepsia: 70,6% e 66,1%, respectivamente. A primeira crise ocorreu durante o primeiro ano de vida em 74,2% dos pacientes com epilepsia. As epilepsias do tipo generalizada e parcial foram as predominantes (61,3% e 27,4%, respectivamente). Trinta e três (53,2%) de 62 pacientes permaneciam há pelo menos um ano livres das crises. Crises neonatais e história familiar de epilepsia estiveram associadas com maior incidência de epilepsia. CONCLUSÕES: epilepsia na paralisia cerebral pode ser prevista se ocorrerem crises no primeiro ano de vida e no período neonatal, e se existe história familiar de epilepsia.

OBJECTIVE: To describe the prevalence and characteristics of epilepsy in patients with cerebral palsy in a tertiary center. METHODS: a total of 100 consecutive patients with cerebral palsy were retrospectively studied. Criteria for inclusion were follow-up period for at least 2 years. Types and incidence of epilepsy were correlated with the different forms of cerebral palsy. Other factors associated with epilepsy such as age of first seizure, neonatal seizures and family history of epilepsy were also analysed. RESULTS: follow-up ranged between 24 and 151 months (mean 57 months). The overall prevalence of epilepsy was 62%. Incidence of epilepsy was predominant in patients with hemiplegic and tetraplegic palsies: 70.6% and 66.1%, respectively. First seizure occurred during the first year of life in 74.2% of patients with epilepsy. Generalized and partial were the predominant types of epilepsy (61.3% and 27.4%, respectively). Thirty-three (53.2%) of 62 patients were seizure free for at least 1 year. Neonatal seizures and family history of epilepsy were associated with a higher incidence of epilepsy. CONCLUSIONS: epilepsy in cerebral palsy can be predicted if seizures occur in the first year of life, in neonatal period and if there is family history of epilepsy.