ESTUDO RETROSPECTIVO DE 53 CRIANÇAS COM DOENÇA DE HIRSCHSPRUNG: ACHADOS CLÍNICOS E LABORATORIAIS

Objective:to analyze some clinical and laboratory characteristics in children with Hirschsprung.s disease. Methods: a retrospective study of all 53 children with Hirschsprung.s disease attended at the University Hospital, Faculty of Medicine of Ribeirão Preto, USP, from January 1981 to December 1999. Some clinical parameters were investigated at the first visit (patients distribution by gender, age at onset of signs and symptoms, at the first visit and at the time of diagnosis, main signs and symptoms, and nutritional status), as well as laboratory tests that permitted the diagnosis (some characteristics observed by barium enema, anorectal manometry and rectal biopsy) and the evolution of the patients after surgical treatment. Results: 42 children (79.2%) were boys. The first signs and symptoms occurred during the first month of life in 43 cases (81.1%), the average age at the first visit was 7 months and age at the time of diagnosis was 8.8 months. The main clinical manifestations were: abdominal distension in 83.0%, intestinal constipation in 73.6%, delayed passage of meconium in 60.7%. No important deficit in weight and height was observed. A barium enema showed a transition zone in 47.2% (17/36) and anorectal manometry revealed the absence of the relaxation reflex of the internal anal sphincter in 73.7% (14/19). All anorectal biopsies demonstrated aganglionosis. One child was submitted to clinical treatment and 52 to surgical treatment. Colostomy was performed in 22/52 children (42.3%) and definitive surgical treatment in 49 (Duhamel Haddad surgery in 77.6%, Soave surgery in 20.4% and Lestar Martin surgery in 2.0%). The most frequent complications before surgery were intestinal obstruction in 28.3% and enterocolitis in 11.3%. The major complications after colostomy were eventration and/or prolapse and/or stenosis in 22.7%, and the major complications after definitive surgical treatment were soiling and/ or fecal incontinence in 28.6%, infection and/or dehiscence of the surgical wound in 22.4%, and enterocolitis and/or diarrhea in 20.0%.Three children were not submitted to surgical treatment. Ten (18.9%) received ambulatory discharge, 14 (26.0%) are still being followed up and 27 (50.9%) abandoned the service. There was a death (1.9%) by enterocolitis some time after definitive surgical treatment and one child (1.9%) is still being followed up in another service, after reconstruction of the transit. Conclusions: there was a discrepancy between the age at onset of symptoms and the age at diagnosis, demonstrating a delay in patient referral for diagnostic confirmation. The late diagnosis probably determined the high percentage of presurgical complications of Hirschsprung.s disease, i.e.,: intestinal obstruction (28.3%) and enterocolitis (11.3%) which are the most frequent and continue to be the major causes of morbidity and mortality in this disease.   Objetivo:analisar algumas características clínicas e laboratoriais de crianças com doença de Hirschsprung. Métodos: estudo retrospectivo de 53 crianças com diagnóstico final de doença de Hirschsprung, atendidas de janeiro de 1981 a dezembro de 1999, no Hospital das Clínicas/ USP, Ribeirão Preto. Foram analisados alguns parâmetros clínicos (distribuição segundo o gênero, idade no início dos sinais e sintomas, na 1a consulta e no diagnóstico da doença, principais sinais e sintomas e estado nutricional) e laboratoriais da 1a consulta, que permitiram o diagnóstico (enema opaco, manometria anorretal e biópsia retal), bem como a evolução dos pacientes após o tratamento cirúrgico. Resultados: 42 crianças (79,2%) eram meninos. Os primeiros sinais e sintomas ocorreram no 10 mês, em 43 casos (81,1%), a idade, na primeira consulta, teve mediana de 7 meses e idade de diagnóstico, mediana de 8,8 meses. As principais manifestações clínicas foram: distensão abdominal em 83,0%, constipação intestinal em 73,6%, atraso na eliminação do mecônio em 60,7% dos casos. Não foi evidenciado importante comprometimento ponderoestatural. O enema opaco mostrou zona de transição em 47,2% (17/36) e, na manometria anorretal, observou-se ausência de reflexo reto  esfincteriano em 73,7% (14/19). Todas as biópsias anorretais evidenciaram aganglionose. Uma das crianças foi submetida a tratamento clínico e 52 a tratamento cirúrgico. A colostomia foi realizada em 22/52 crianças (42,3%) e o tratamento cirúrgico definitivo em 49, sendo, em 77,6%, cirurgia de Duhamel Haddad, em 20,4%, cirurgia de Soave e, em 2,0%, cirurgia de Lestar Martin. As complicações pré-operatórias mais freqüentes foram obstrução intestinal em 28,3% e enterocolite em 11,3% dos casos. As principais complicações pós operatórias da colostomia foram: eventração e/ou prolapso e/ou estenose em 22,7% dos casos e do tratamento cirúrgico definitivo: escape e/ou incontinência fecal em 28,6%, infecção e/ou deiscência de ferida cirúrgica em 22,4% e enterocolite e/ou diarréia em 20,4%. Três crianças não foram submetidas a tratamento cirúrgico definitivo. Dez crianças (18,9%) obtiveram alta, 14 (26,4%) continuam em seguimento ambulatorial e 27 (50,9%) abandonaram o serviço após a cirurgia definitiva. Houve um óbito devido a enterocolite algum tempo após a cirurgia definitiva e 1 criança continua em seguimento ambulatorial em outro serviço, após a reconstrução do trânsito. Cinco das 14 crianças (35,7%) que permanecem em seguimento e 8 (29,6%) das 27 crianças que abandonaram o serviço mantinham escape e/ou incontinência fecal na última consulta. Conclusão: houve uma discrepância entre a idade de início dos sintomas e a idade de diagnóstico, evidenciando retardo no encaminhamento dos pacientes para comprovação diagnóstica. O diagnóstico tardio, possivelmente, determinou a alta porcentagem das complicações pré-operatórias da doença, que permanecem com as principais causas de morbimortalidade relativa à doença.  

Autoimmune hepatitis in 828 Brazilian children and adolescents: clinical and laboratory findings, histological profile, treatments, and outcomes

In this large clinical series of Brazilian children and adolescents, autoimmunehepatitis-1 was more frequent, and patients with autoimmune hepatitis-2 exhibited higherdisease remission rates with earlier response to treatment. Patients with autoimmune hepatitis-1 had a higher risk of death.sentation, laboratory findings, histological profile, treatments, and outcomes of children andadolescents with autoimmune hepatitis.Methods: The medical records of 828 children and adolescents with autoimmune hepatitiswere reviewed. A questionnaire was used to collect anonymous data on clinical presentation,biochemical and histological findings, and treatments.Results: Of all patients, 89.6% had autoimmune hepatitis-1 and 10.4% had autoimmunehepatitis-2. The female sex was predominant in both groups. The median age at symptomonset was 111.5 (6; 210) and 53.5 (8; 165) months in the patients with autoimmune hepatitis1 and autoimmune hepatitis-2, respectively. Acute clinical onset was observed in 56.1% and58.8% and insidious symptoms in 43.9% and 41.2% of the patients with autoimmune hepatitis-1and autoimmune hepatitis-2, respectively. The risk of hepatic failure was 1.6-fold higher forautoimmune hepatitis-2. Fulminant hepatic failure occurred in 3.6% and 10.6% of the patientswith autoimmune hepatitis-1 and autoimmune hepatitis-2, respectively; the risk was 3.1-foldhigher for autoimmune hepatitis-2. The gamma globulin and immunoglobulin G levels were sig-nificantly higher in autoimmune hepatitis-1, while the immunoglobulin A and C3 levels werelower in autoimmune hepatitis-2. Cirrhosis was observed in 22.4% of the patients; biochem-ical remission was achieved in 76.2%. The actuarial survival rate was 93.0%. A total of 4.6%underwent liver transplantation, and 6.9% died (autoimmune hepatitis-1: 7.5%; autoimmunehepatitis-2: 2.4%).Conclusions: In this large clinical series of Brazilian children and adolescents, autoimmunehepatitis-1 was more frequent, and patients with autoimmune hepatitis-2 exhibited higherdisease remission rates with earlier response to treatment. Patients with autoimmune hepatitis-1 had a higher risk of death.info:eu-repo/semantics/publishedVersio

Erros inatos do metabolismo confirmados no Hospital das Clínicas de Ribeirão Preto-SP no período de 2000 a 2008

Os Erros Inatos do Metabolismo (EIM) vêm sendo cada vez mais identificados nos últimos anos. A preocupação com o diagnóstico precoce decorre do foco na prevenção de deficiências, especialmente a mental. Este estudo descritivo teve por objetivo verificar diagnósticos confirmados e modalidades de tratamento utilizadas de janeiro de 2000 a dezembro de 2008. Método: foi realizada busca ativa de casos confirmados nos serviços que atendem esse tipo doença: neurologia (neuropediatria e doenças neuromusculares), pediatria (serviço de gastrologia e hepatologia) e genética clínica, além de levantamento no Serviço de Arquivo Médico do HCFMRP-USP. Foram confirmados 165 pacientes com EIM, com idades de um dia a 22 anos (mediana de um ano); 50 casos foram defeitos na síntese ou catabolismo de moléculas complexas, 65 no metabolismo intermediário, e 50 na produção ou utilização de energia. O tratamento foi instituído para 12 dos 50 pacientes do grupo I sendo reposição enzimática em 11 e transplante de medula óssea em um; todos do grupo II e III receberam orientação  nutricional; 60 do grupo II receberam fórmula dietética industrializada; dos 50 do grupo III, 43 com mitocondriopatias receberam L-carnitina e coenzimas e aqueles com glicogenose, orientação sobre aporte de carbohidratos. A formação de novos recursos humanos, integração com a Rede EIM Brasil e linhas de pesquisa na área são prioridades para melhorar a acuidade na detecção e tratamento de erros inatos do metabolismo.Inborn Errors of Metabolism have been increasingly identified in recent years. The early diagnosis focuses on prevention of disabilities, especially mental retardation. This descriptive study aims to verify confirmed diagnosis and treatment modalities in HCFMRP-USP cases from January of 2000 to December of 2008. A total of 165 patients with ages ranging from one day to 22 years (median one year) were detected. Fifty patients had synthesis or catabolism of complex molecules (group I), 65 intermediary metabolism (group II), and 50 had production or use of energy (group III) defects. Among the patients of group I, 11 had enzyme replacement therapy, and one bone marrow transplantation; for group II and III, in addition to daily nutritional guidance for all of the patients, 60 from group II received industrialized diets; from group III, 43 with mitochondrial diseases received L-carnitine and coenzymes, and those with glycogenosis were focused mainly on the intake of carbohydrates. New human resources, integration with the Network EIM Brazil and lines of research in the area are priorities for improving the accuracy in the detection and treatment of inborn errors of metabolism

Effect of early tranexamic acid administration on mortality, hysterectomy, and other morbidities in women with post-partum haemorrhage (WOMAN): an international, randomised, double-blind, placebo-controlled trial

Background Post-partum haemorrhage is the leading cause of maternal death worldwide. Early administration of tranexamic acid reduces deaths due to bleeding in trauma patients. We aimed to assess the effects of early administration of tranexamic acid on death, hysterectomy, and other relevant outcomes in women with post-partum haemorrhage. Methods In this randomised, double-blind, placebo-controlled trial, we recruited women aged 16 years and older with a clinical diagnosis of post-partum haemorrhage after a vaginal birth or caesarean section from 193 hospitals in 21 countries. We randomly assigned women to receive either 1 g intravenous tranexamic acid or matching placebo in addition to usual care. If bleeding continued after 30 min, or stopped and restarted within 24 h of the first dose, a second dose of 1 g of tranexamic acid or placebo could be given. Patients were assigned by selection of a numbered treatment pack from a box containing eight numbered packs that were identical apart from the pack number. Participants, care givers, and those assessing outcomes were masked to allocation. We originally planned to enrol 15 000 women with a composite primary endpoint of death from all-causes or hysterectomy within 42 days of giving birth. However, during the trial it became apparent that the decision to conduct a hysterectomy was often made at the same time as randomisation. Although tranexamic acid could influence the risk of death in these cases, it could not affect the risk of hysterectomy. We therefore increased the sample size from 15 000 to 20 000 women in order to estimate the effect of tranexamic acid on the risk of death from post-partum haemorrhage. All analyses were done on an intention-to-treat basis. This trial is registered with ISRCTN76912190 (Dec 8, 2008); ClinicalTrials.gov, number NCT00872469; and PACTR201007000192283. Findings Between March, 2010, and April, 2016, 20 060 women were enrolled and randomly assigned to receive tranexamic acid (n=10 051) or placebo (n=10 009), of whom 10 036 and 9985, respectively, were included in the analysis. Death due to bleeding was significantly reduced in women given tranexamic acid (155 [1·5%] of 10 036 patients vs 191 [1·9%] of 9985 in the placebo group, risk ratio [RR] 0·81, 95% CI 0·65–1·00; p=0·045), especially in women given treatment within 3 h of giving birth (89 [1·2%] in the tranexamic acid group vs 127 [1·7%] in the placebo group, RR 0·69, 95% CI 0·52–0·91; p=0·008). All other causes of death did not differ significantly by group. Hysterectomy was not reduced with tranexamic acid (358 [3·6%] patients in the tranexamic acid group vs 351 [3·5%] in the placebo group, RR 1·02, 95% CI 0·88–1·07; p=0·84). The composite primary endpoint of death from all causes or hysterectomy was not reduced with tranexamic acid (534 [5·3%] deaths or hysterectomies in the tranexamic acid group vs 546 [5·5%] in the placebo group, RR 0·97, 95% CI 0·87-1·09; p=0·65). Adverse events (including thromboembolic events) did not differ significantly in the tranexamic acid versus placebo group. Interpretation Tranexamic acid reduces death due to bleeding in women with post-partum haemorrhage with no adverse effects. When used as a treatment for postpartum haemorrhage, tranexamic acid should be given as soon as possible after bleeding onset. Funding London School of Hygiene & Tropical Medicine, Pfizer, UK Department of Health, Wellcome Trust, and Bill & Melinda Gates Foundation

ACRODERMATITE ENTEROPÁTICA: MANIFESTAÇÕES CLÍNICAS E DIAGNÓSTICO PEDIÁTRICO

RESUMO Objetivo: Relatar um caso de acrodermatite enteropática, doença rara com herança autossômica recessiva. Relato de caso: Menino de 11 meses de idade apresentava lesões eritematosas simétricas na face, pés, mãos e joelhos, diarreia intermitente, febre e infecções recorrentes desde os seis meses de idade. Ele estava emagrecido e tinha cabelos escassos no couro cabeludo. Foi solicitada a avaliação da concentração sérica de zinco e identificado um nível reduzido de 27,0 mcg/dL (valores de referência: 50,0-120,0). Foi iniciada a suplementação oral com 2,0 mg/kg/dia de sulfato de zinco. Houve melhora rápida e progressiva dos sintomas. Os sintomas reapareceram quando houve uma tentativa de descontinuar a suplementação. Comentários: Reconhecer e tratar adequadamente a acrodermatite enteropática é importante para evitar as complicações da doença

Evaluation of swallowing in children with vomiting after feeding

Vomiting after feeding is a symptom of gastroesophageal reflux (GER) and of eosinophilic esophagitis (EE), which are considered to be a cause of infant feeding disorder. The objective of the present study was to evaluate swallowing in children with feeding disorder manifested by vomiting after feeding. Using clinical and videofluoroscopic methods we studied the swallowing of 37 children with vomiting after feeding (mean age = 15.4 months), and of 15 healthy children (mean age = 20.5 months). In the videofluoroscopic examination the children swallowed a free volume of milk and 5 ml of mashed banana, both mixed with barium sulfate. We evaluated five swallows of liquid and five swallows of paste. The videofluoroscopic examination was recorded at 60 frames/s. Patients had difficulty during feeding, pneumonia, respiratory distress, otitis, and irritability more frequently than controls. During feeding, children with vomiting, choke were irritable, and refused food more frequently than controls, and during the videofluoroscopic examination the patients had more backward movement of the head than controls for both the liquid and paste boluses. There was no difference in the timing of oral swallowing transit, pharyngeal swallowing transit, or pharyngeal clearance between patients and controls. We conclude that children with vomiting after feeding may have difficulties in accepting feeding, although they have no alteration of oral and pharyngeal phases of swallowing

Evaluation of nonalcoholic fatty liver disease using magnetic resonance in obese children and adolescents

Objective: To determine the frequency of nonalcoholic fatty liver disease using nuclear magnetic resonance as a noninvasive method. Methodology: This was a cross‐sectional study conducted on 50 children and adolescents followed up at an outpatient obesity clinic. The subjects were submitted to physical examination, laboratory tests (transaminases, liver function tests, lipid profile, glycemia, and basal insulin) and abdominal nuclear magnetic resonance (calculation of hepatic, visceral, and subcutaneous fat). Results: Nonalcoholic fatty liver disease was diagnosed in 14 (28%) participants, as a severe condition in eight (percent fat >18%), and as non‐severe in four (percent fat from 9% to 18%). Fatty liver was associated with male gender, triglycerides, AST, ALT, AST/ALT ratio, and acanthosis nigricans. Homeostasis model assessment of insulin resistance and metabolic syndrome did not show an association with fatty liver. Conclusion: The frequency of nonalcoholic fatty liver disease in the present population of children and adolescents was lower than that reported in the international literature. It is suggested that nuclear magnetic resonance is an imaging exam that can be applied to children and adolescents, thus representing an effective noninvasive tool for the diagnosis of nonalcoholic fatty liver disease in this age range. However, further national multicenter studies with longitudinal design are needed for a better analysis of the correlation between nonalcoholic fatty liver disease and its risk factors, as well as its consequences. Resumo: Objetivo: Determinar a frequência da doença hepática gordurosa não alcoólica utilizando ressonância magnética nuclear como um método não invasivo. Metodologia: Este foi um estudo transversal realizado em 50 crianças e adolescentes acompanhadas em uma Clínica Ambulatorial de Obesidade. Os indivíduos foram submetidos a exame físico, testes de laboratório (transaminases, testes de função hepática, perfil lipídico, glicemia e insulina basal) e ressonância magnética nuclear abdominal (cálculo da gordura hepática, visceral e subcutânea). Resultados: A doença hepática gordurosa não alcoólica foi diagnosticada em 14 (28%) participantes, como uma condição grave em oito (percentual de gordura > 18%) e não grave em quatro (percentual de gordura de 9 a 18%). Fígado gorduroso foi associado a sexo masculino, triglicerídeos, aspartato aminotransferase (AST), alanina aminotransferase (ALT), proporção de AST/ALT e acanthosis nigricans. O Modelo de Avaliação da Homeostase de Resistência à Insulina e a síndrome metabólica não mostraram associação com fígado gorduroso. Conclusão: A frequência da doença hepática gordurosa não alcoólica na população atual de crianças e adolescentes foi inferior à relatada na literatura internacional. Sugerimos que a ressonância magnética nuclear seja um exame de imagem que pode ser aplicado em crianças e adolescentes, representando, assim, uma ferramenta não invasiva eficaz no diagnóstico de doença hepática gordurosa não alcoólica nessa faixa etária. Contudo, estudos multicêntricos nacionais adicionais de modelo longitudinal são necessários para uma melhor análise da correlação entre a doença hepática gordurosa não alcoólica e seus fatores de risco, bem como suas consequências. Keywords: Nonalcoholic fatty liver disease, Hepatic steatosis, Nuclear magnetic resonance, Obese children and adolescents, Palavras‐chave: Doença hepática gordurosa não alcoólica, Esteatose hepática, Ressonância magnética nuclear, Crianças e adolescentes obeso

Evaluation of nonalcoholic fatty liver disease using magnetic resonance in obese children and adolescents

Objective: To determine the frequency of nonalcoholic fatty liver disease using nuclear magnetic resonance as a noninvasive method. Methodology: This was a cross-sectional study conducted on 50 children and adolescents followed up at an outpatient obesity clinic. The subjects were submitted to physical examination, laboratory tests (transaminases, liver function tests, lipid profile, glycemia, and basal insulin) and abdominal nuclear magnetic resonance (calculation of hepatic, visceral, and subcutaneous fat). Results: Nonalcoholic fatty liver disease was diagnosed in 14 (28%) participants, as a severe condition in eight (percent fat >18%), and as non-severe in four (percent fat from 9% to 18%). Fatty liver was associated with male gender, triglycerides, AST, ALT, AST/ALT ratio, and acanthosis nigricans. Homeostasis model assessment of insulin resistance and metabolic syndrome did not show an association with fatty liver. Conclusion: The frequency of nonalcoholic fatty liver disease in the present population of children and adolescents was lower than that reported in the international literature. It is suggested that nuclear magnetic resonance is an imaging exam that can be applied to children and adolescents, thus representing an effective noninvasive tool for the diagnosis of nonalcoholic fatty liver disease in this age range. However, further national multicenter studies with longitudinal design are needed for a better analysis of the correlation between nonalcoholic fatty liver disease and its risk factors, as well as its consequences. Resumo: Objetivo: Determinar a frequência da doença hepática gordurosa não alcoólica utilizando ressonância magnética nuclear como um método não invasivo. Metodologia: Este foi um estudo transversal realizado em 50 crianças e adolescentes acompanhadas em uma Clínica Ambulatorial de Obesidade. Os indivíduos foram submetidos a exame físico, testes de laboratório (transaminases, testes de função hepática, perfil lipídico, glicemia e insulina basal) e ressonância magnética nuclear abdominal (cálculo da gordura hepática, visceral e subcutânea). Resultados: A doença hepática gordurosa não alcoólica foi diagnosticada em 14 (28%) participantes, como uma condição grave em oito (percentual de gordura > 18%) e não grave em quatro (percentual de gordura de 9 a 18%). Fígado gorduroso foi associado a sexo masculino, triglicerídeos, aspartato aminotransferase (AST), alanina aminotransferase (ALT), proporção de AST/ALT e acanthosis nigricans. O Modelo de Avaliação da Homeostase de Resistência à Insulina e a síndrome metabólica não mostraram associação com fígado gorduroso. Conclusão: A frequência da doença hepática gordurosa não alcoólica na população atual de crianças e adolescentes foi inferior à relatada na literatura internacional. Sugerimos que a ressonância magnética nuclear seja um exame de imagem que pode ser aplicado em crianças e adolescentes, representando, assim, uma ferramenta não invasiva eficaz no diagnóstico de doença hepática gordurosa não alcoólica nessa faixa etária. Contudo, estudos multicêntricos nacionais adicionais de modelo longitudinal são necessários para uma melhor análise da correlação entre a doença hepática gordurosa não alcoólica e seus fatores de risco, bem como suas consequências. Keywords: Nonalcoholic fatty liver disease, Hepatic steatosis, Nuclear magnetic resonance, Obese children and adolescents, Palavras-chave: Doença hepática gordurosa não alcoólica, Esteatose hepática, Ressonância magnética nuclear, Crianças e adolescentes obeso

ACRODERMATITIS ENTEROPATHICA: CLINICAL MANIFESTATIONS AND PEDIATRIC DIAGNOSIS

<p></p><p>ABSTRACT Objective: To report a case of acrodermatitis enteropathica, a rare disease with autosomal recessive inheritance. Case description: An 11-month-old boy was presenting symmetrical erythematous and yellowish-brownish crusted lesions on his face, feet, hands and knees, intermittent diarrhea, fever, and recurrent infections since the age of six months. He was thin and had scarce hair on the scalp. The serum zinc level was measured and a reduced level of 27.0 mcg/dL (normal range: 50.0-120.0) was identified. Oral supplementation with 2.0 mg/kg/day of zinc sulfate was immediately initiated. A rapid and progressive improvement of symptoms was observed. The symptoms reappeared with an attempt to stop supplementation. Comments: Recognizing and properly treating acrodermatitis enteropathica is important to prevent complications.</p><p></p