Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation.

Lysosomal acid lipase deficiency is a poorly diagnosed genetic disorder, leading to accumulation of cholesterol esters and triglycerides in the liver, with progression to chronic liver disease, dyslipidemia, and cardiovascular complications. Lack of awareness on diagnosis of this condition may hamper specific treatment, which consists on enzymatic replacement. It may prevent the progression of liver disease and its complications. We describe the case of a 53-year-old Brazilian man who was referred to our center due to the diagnosis of liver cirrhosis of unknown etiology. He was asymptomatic and had normal body mass index. He had dyslipidemia, and family history of myocardial infarction and stroke. Abdominal imaging tests showed liver cirrhosis features and the presence of intrahepatic calcifications. Initial investigation of the etiology of the liver disease was not elucidated, but liver biopsy showed microgoticular steatosis and cholesterol esters deposits in Kuppfer cells. The dosage of serum lysosomal acid lipase was undetectable and we found the presence of a rare homozygous mutation in the gene associated with the lysosomal acid lipase deficiency, (allele c.386A > G homozygous p.H129R).

Hand-foot syndrome due to hepatitis C therapy.

INTRODUCTION: Direct-acting antivirals are new drugs for chronic hepatitis C treatment. They are usually safe and well tolerated, but can sometimes cause serious adverse effects and there is no consensus on how to treat or prevent them. We described a case of hand-foot syndrome due to hepatitis C virus interferon-free therapy. METHODS: We report the case of a 49-year-old man with compensated liver cirrhosis due to chronic hepatitis C genotype 1, treatment-naïve, who started viral treatment with sofosbuvir, simeprevir and ribavirin for 12 weeks. RESULTS: At the sixth week of treatment he had anemia, requiring a lower dose of ribavirin. At the tenth week, he had erythematous, pruritic, scaly and flaky lesions on hands and feet, which showed a partial response to oral antihistamines and topical corticosteroids. It was not necessary to discontinue antiviral treatment, but in the first week after the end of treatment, there was worsening of injuries, including signs of secondary infection, that required hospitalization, antibiotics and oral corticosteroid, with progressive improvement. Biopsy of the lesions was consistent with pharmacodermia. The patient had sustained a virological response, despite the side effect. He had a history of pharmacodermia one year ago attributed to the use of topiramate, responsive to oral corticosteroid. CONCLUSION: Interferon-free therapies can rarely lead to severe adverse reactions, such as skin lesions. Patients receiving ribavirin combinations and those who had a history of pharmacodermia or skin disease may be more susceptible. There is no consensus on how to prevent skin reactions in these patients.

Hand-foot syndrome due to hepatitis C therapy

SUMMARY INTRODUCTION Direct-acting antivirals are new drugs for chronic hepatitis C treatment. They are usually safe and well tolerated, but can sometimes cause serious adverse effects and there is no consensus on how to treat or prevent them. We described a case of hand-foot syndrome due to hepatitis C virus interferon-free therapy. METHODS We report the case of a 49-year-old man with compensated liver cirrhosis due to chronic hepatitis C genotype 1, treatment-naïve, who started viral treatment with sofosbuvir, simeprevir and ribavirin for 12 weeks. RESULTS At the sixth week of treatment he had anemia, requiring a lower dose of ribavirin. At the tenth week, he had erythematous, pruritic, scaly and flaky lesions on hands and feet, which showed a partial response to oral antihistamines and topical corticosteroids. It was not necessary to discontinue antiviral treatment, but in the first week after the end of treatment, there was worsening of injuries, including signs of secondary infection, that required hospitalization, antibiotics and oral corticosteroid, with progressive improvement. Biopsy of the lesions was consistent with pharmacodermia. The patient had sustained a virological response, despite the side effect. He had a history of pharmacodermia one year ago attributed to the use of topiramate, responsive to oral corticosteroid. CONCLUSION Interferon-free therapies can rarely lead to severe adverse reactions, such as skin lesions. Patients receiving ribavirin combinations and those who had a history of pharmacodermia or skin disease may be more susceptible. There is no consensus on how to prevent skin reactions in these patients.

RESUMO INTRODUÇÃO Antivirais de ação direta são as novas drogas utilizadas no tratamento da hepatite C crônica. São geralmente seguros, com boa tolerância, mas eventualmente podem causar efeitos adversos graves, e não há consenso sobre como tratá-los ou preveni-los. Descrevemos um caso de síndrome mão-pé secundária à terapia livre de interferon para hepatite C crônica. Materiais e métodos Relatamos o caso de um paciente de 49 anos com cirrose hepática compensada secundária à hepatite C crônica, genótipo 1, virgem de tratamento, que iniciou terapia com sofosbuvir, simeprevir e ribavirina por 12 semanas. Resultados Na sexta semana de tratamento, apresentou anemia, sendo necessária redução de dose da ribavirina. Na 20a semana, apresentou lesões eritematosas e descamativas, com prurido em mãos e pés, que teve resposta parcial ao uso de anti-histamínico oral e corticoide tópico. Não foi necessário descontinuar os antivirais, mas na primeira semana após o término do tratamento, houve piora das lesões, com sinais de infecção secundária, sendo necessárias hospitalização e terapia com antibiótico e corticoide oral, com melhora progressiva. Biópsias das lesões foram compatíveis com farmacodermia. O paciente teve resposta virológica sustentada, apesar dos efeitos adversos. Tinha história de farmacodermia há um ano, atribuída ao uso de topiramato, responsiva a corticoterapia oral. Conclusão Os tratamentos livres de interferon raramente causam eventos adversos graves, como lesões cutâneas. Pacientes em uso de ribavirina e com história de farmacodermia ou doença cutânea prévia podem ser mais susceptíveis. Não existe consenso sobre como prevenir reações cutâneas nesses pacientes.

Apgar score and neonatal mortality in a hospital located in the southern area of São Paulo City, Brazil.

OBJECTIVE: To correlate the Apgar score, and neonatal mortality and its causes at a hospital located in the southern area of São Paulo City. METHODS: A retrospective study performed by analysis of medical charts (n = 7,094) of all live newborns during the period of 2005 to 2009, with data up to 28 days of life in reference to weight, Apgar score, survival and cause of mortality. Cases were analyzed by the chi2 test (p < 0.05). RESULTS: In 7,094 births, there were 139 deaths, 58.3% during the first week, and 3.6% of them with Apgar < 4 in the 1st minute. A positive association was found between mortality and this variable, with significantly declining values up to 2,000 g in weight. In the group with weight < 1,000 g, the association with Apgar < 4 in the 1st minute with mortality was three-fold greater than in the 1,000-1,500 g weight group, and 35-fold greater than in the > or = 3,000 g group. Among newborns with Apgar 8-10, the rate of mortality and low weight was two times greater than in those with weight > 2,499 g. Fetal distress and prematurity were associated with early neonatal death; malformations and fetal distress to late mortality. The predictive value of death with Apgar < 4 varied, according to weight, from 62.74% in the < 1,000 g group to 5.5%, in the > 3,000 g group. CONCLUSIONS: The Apgar score proved linked to factors both epidemiological and related to attention given to the birth and neonatal mortality, and was associated with extremely low birth weight.

Apgar score and neonatal mortality in a hospital located in the southern area of São Paulo City, Brazil / Escore de Apgar e mortalidade neonatal em um hospital localizado na zona sul do município de São Paulo

Objective: To correlate the Apgar score, and neonatal mortality and its causes at a hospital located in the southern area of São Paulo City. Methods: A retrospective study performed by analysis of medical charts (n=7,094) of all live newborns during the period of 2005 to 2009, with data up to 28 days of life in reference to weight, Apgar score, survival and cause of mortality. Cases were analyzed by the X² test (p < 0.05). Results: In 7,094 births, there were 139 deaths, 58.3% during the first week, and 3.6% of them with Apgar < 4 in the 1st minute. A positive association was found between mortality and this variable, with significantly declining values up to 2,000 g in weight. In the group with weight < 1,000 g, the association with Apgar < 4 in the 1st minute with mortality was three-fold greater than in the 1,000-1,500 g weight group, and 35-fold greater than in the ? 3,000 g group. Among newborns with Apgar 8-10, the rate of mortality and low weight was two times greater than in those with weight > 2,499 g. Fetal distress and prematurity were associated with early neonatal death; malformations and fetal distress to late mortality. The predictive value of death with Apgar < 4 varied, according to weight, from 62.74% in the < 1,000 g group to 5.5%, in the > 3,000 g group. Conclusions: The Apgar score proved linked to factors both epidemiological and related to attention given to the birth and neonatal mortality, and was associated with extremely low birth weight.

Objetivo: Correlacionar o escore de Apgar e a mortalidade neonatal e suas causas em um hospital localizado na zona Sul do município de São Paulo. Métodos: Estudo retrospectivo por análise de prontuário (n=7.094), de todos os recém-nascidos vivos, no período de 2005 a 2009, com dados referentes até os 28 dias de vida, quanto a peso, escore de Apgar, sobrevida e causa de mortalidade. Os casos foram analisados pelo teste do X² (p < 0,05). Resultados: Nos 7.094 nascimentos, houve 139 óbitos, 58,3% na primeira semana, 3,6% com Apgar < 4 no 1º minuto. Foi encontrada associação positiva entre mortalidade e essa variável, com valores decrescentes significantemente até o peso de 2.000 g. No grupo de peso < 1.000 g, a associação do Apgar < 4 no 1º minuto com mortalidade foi três vezes maior do que no grupo 1.000 a 1.500 g e 35 vezes maior do que no grupo ? 3.000 g. Entre os recém-nascidos com Apgar de 8 a 10, a mortalidade entre baixo peso foi duas vezes maior do que nos de peso > 2.499 g. O sofrimento fetal e a prematuridade se associaram a óbito neonatal precoce; malformações e o sofrimento fetal à mortalidade tardia. O valor preditivo de morrer quando o Apgar < 4 variou, conforme o peso, entre 62,74% no grupo < 1.000 g a 5,5% no grupo > 3.000 g. Conclusões: O escore de Apgar se mostrou ligado a fatores epidemiológicos e de atenção ao parto, à mortalidade neonatal e se associou a extremo baixo peso.

Avaliação das internações de crianças de 0 a 5 anos por infecções respiratórias em um hospital de grande porte / Evaluation of hospitalization of children aged 0 to 5 years admitted for respiratory infections at a large hospital

Objective: To evaluate the admission of children aged 0 to 5 years due to respiratory infections at a major hospital in the Southern region of the city of São Paulo. Methods: A total of 4,240 clinical records of children hospitalized and diagnosed with pneumonia, bronchopneumonia, bronchiolitis and bronchitis were evaluated for the 2008-2009 period, based on age, gender and year season. Results: Out of this total of children aged 0 to 60-months, 139 (3.2%) presented with pneumonia, with a slight predominance in female babies, and 73.4% occurred between 12 and 60 months (102 cases), particularly during the winter. No significant difference was found as to gender in bronchopneumonia. Age range and year seasons showed to be significant. As regards to bronchiolitis, there was a slight increase in male babies (253 cases) aged less than 12 months and in the autumn season. A total of 182 (4.3%) presented with bronchitis, mainly boys (101 cases) in children aged 12 to 60 months, predominantly during autumn/summer seasons. Conclusion: The assessment of admissions of children aged 0 to 5 years due to respiratory infections at a major hospital at the Southern region of the city of São Paulo, in the 2008-2009 period, showed that respiratory diseases affect age groups, and gender in a different way occurring in specific periods of the year.

Objetivo: Avaliar internações de crianças de 0 a 5 anos por infecções respiratórias em um hospital de grande porte da zona sul de São Paulo. Métodos: Foram utilizados 4.240 prontuários de crianças internadas com os diagnósticos de pneumonia, broncopneumonia, bronquiolite e bronquite, no ano de 2008 a 2009, utilizando-se como base idade, gênero e estações do ano. Resultados: Desse total de crianças entre 0 a 60 meses de idade, 139 (3,2%) tiveram pneumonia, com discreto predomínio do sexo feminino, e 73,4% ocorreram entre 12 a 60 meses (102 casos), a maioria no inverno. Não houve diferença significante quanto ao gênero na broncopneumonia; a faixa etária e as estações do ano mostraram-se significantes. Em relação à bronquiolite, houve um discreto predomínio do gênero masculino (253 casos), da faixa etária menor que 12 meses e da estação de outono. Apresentaram bronquite 182 (4,3%) crianças de 12 a 60 meses, com predomínio do sexo masculino (101 casos), com maior frequência no outono/verão. Conclusão: Ao avaliar as internações de crianças de 0 a 5 anos de idade internadas por infecções respiratórias em um hospital de grande porte da zona sul de São Paulo no período de 2008 a 2009, os dados evidenciaram que as doenças respiratórias afetaram de maneira diferente as faixas etárias e o gênero das crianças, ocorrendo em épocas distintas do ano.

Evaluation of hospitalization of children aged 0 to 5 years admitted for respiratory infections at a large hospital.

OBJECTIVE: To evaluate the admission of children aged 0 to 5 years due to respiratory infections at a major hospital in the Southern region of the city of São Paulo. METHODS: A total of 4,240 clinical records of children hospitalized and diagnosed with pneumonia, bronchopneumonia, bronchiolitis and bronchitis were evaluated for the 2008-2009 period, based on age, gender and year season. RESULTS: Out of this total of children aged 0 to 60-months, 139 (3.2%) presented with pneumonia, with a slight predominance in female babies, and 73.4% occurred between 12 and 60 months (102 cases), particularly during the winter. No significant difference was found as to gender in bronchopneumonia. Age range and year seasons showed to be significant. As regards to bronchiolitis, there was a slight increase in male babies (253 cases) aged less than 12 months and in the autumn season. A total of 182 (4.3%) presented with bronchitis, mainly boys (101 cases) in children aged 12 to 60 months, predominantly during autumn/summer seasons. CONCLUSION: The assessment of admissions of children aged 0 to 5 years due to respiratory infections at a major hospital at the Southern region of the city of São Paulo, in the 2008-2009 period, showed that respiratory diseases affect age groups, and gender in a different way occurring in specific periods of the year.