Hiperfosfatasemia transitória benigna na infância

Benign transient hyperphosphatasemia of childhood (BTHC) is a rather unknown condition that is associated with a benign state and a good prognosis. BTHC is defined by a sudden and transitory elevation of serum concentration of alkaline phosphatase in healthy children. The etiology of this disorder remains unclear, however the impaired clearance of the enzyme in the circulation seems to be a possible mechanism. To make the current knowledge about BTHC well known , the most relevant papers published since the first description of this condition, in 1954, were selected in Medline database. The diagnostic criteria of BTHC are: being younger than five years, absence of symptoms or presence of symptoms associated with unrelated diseases, without clinic or biochemical evidence of bone or liver diseases. Alkaline phosphatase elevation ranges from 3 to 50 times the upper normal value for age. The isoenzyme analysis shows an elevation in bone and/or liver fractions. Serum alkaline phosphatase levels return to normal in four months. Elevation in serum levels of alkaline phosphatase has also been found in disorders such as asymptomatic and symptomatic persistent familial hyperphosphatasemia and persistent nonfamilial hyperphosphatasemia. Taking into consideration the BTHC is essential in the distinct diagnosis of serum alkaline phosphatase elevation in children when no reasonable cause is detected, thus avoiding unnecessary and expensive procedures during the diagnostic investigation.A hiperfosfatasemia transitória benigna na infância (HTBI) é uma condição pouco conhecida, que se traduz por um estado benigno e de bom prognóstico. A HTBI resulta do aumento súbito e transitório na concentração sérica da fosfatase alcalina (FA) em crianças sadias. A sua etiopatogenia é ainda incerta, porém a diminuição do clearance da enzima na circulação tem sido considerada o mecanismo mais provável. Para divulgar os conhecimentos atuais acerca do diagnóstico da HTBI, foram selecionados, no Medline, os artigos de periódicos médicos internacionais mais relevantes desde a descrição inicial desta condição, em 1954. Os critérios para diagnóstico de HTBI são: acometer crianças com idade inferior a cinco anos, ausência de sintomas ou presença de sintomas associados a doenças não relacionadas, sem evidência clínica ou laboratorial de doença óssea ou hepática. A elevação da fosfatase alcalina varia entre 3 e 50 vezes o limite superior do valor para a idade. A análise das isoenzimas mostra elevação das formas óssea e hepática. Os níveis séricos da fosfatase alcalina retornam ao normal em quatro meses. A elevação sérica da fosfatase alcalina foi relatada em patologias como hiperfosfatasemia familiar persistente assintomática e sintomática e hiperfosfatasemia persistente não-familiar. É indispensável que a HTBI seja considerada no diagnóstico diferencial de um aumento considerável dos níveis séricos de fosfatase alcalina em crianças, sem que seja detectada uma causa óbvia, o que evitará procedimentos desnecessários e dispendiosos durante a investigação diagnóstica

Biallelic loss of EMC10 leads to mild to severe intellectual disability

The endoplasmic reticulum membrane protein complex subunit 10 (EMC10) is a highly conserved protein responsible for the post-translational insertion of tail-anchored membrane proteins into the endoplasmic reticulum in a defined topology. Two biallelic variants in EMC10 have previously been associated with a neurodevelopmental disorder. Utilizing exome sequencing and international data sharing we have identified 10 affected individuals from six independent families with five new biallelic loss-of-function and one previously reported recurrent EMC10 variants. This report expands the molecular and clinical spectrum of EMC10 deficiency, provides a comprehensive dysmorphological assessment and highlights an overlap between the clinical features of EMC10-and EMC1-related disease

Brazilian Journal of Infectious Diseases

p. 89-93Diarrhea remains a major health issue in developing countries, with high morbidity and mortality rates. Determining the incidence of acute diarrhea in children and its associated factors is crucial to the planning of preventive approaches. The objective of this study was to determine the incidence of diarrhea and to assess some relevant associated factors to it in children younger than 40 months living in two slums of Salvador, Brazil. This is the first prospective cohort, community-based study that was performed in two periurban slums of Salvador, Brazil. Eighty-four children younger than 40 months were randomly selected and visited every other day for one year. The chi-square test was used to evaluate the occurrence of diarrhea and its associated factors. During the surveillance period, 232 diarrhea episodes were identified, resulting in an incidence rate of 2.8 episodes/child/year. In average (mean value of 84 children),each child suffered 11.1 days of diarrhea per year, yielding an average duration of 3.9 days per episode. The highest incidence rates were found among children under one year old. Early weaning, male sex, malnutrition, having a mother younger than 25 years or who considered her child malnourished, missed immunizations and previous pneumonia were associated factors for suffering diarrheal episodes. The rates of incidence and duration of diarrhea that we found are in accordance to those reported by others. Additionally, our results reinforce the importance of environmental and health-related associated factors to the onset of diarrhea.Salvado

Revista de Ciências Médicas e Biológicas

Artigo de revisão(p.108-114)A hiperfosfatasemia transitória benigna na infância (HTBI) é uma condição pouco conhecida, que se traduz por um estado benigno e de bom prognóstico. A HTBI resulta do aumento súbito e transitório na concentração sérica da fosfatase alcalina (FA) em crianças sadias. A sua etiopatogenia é ainda incerta, porém a diminuição do clearance da enzima na circulação tem sido considerada o mecanismo mais provável. Para divulgar os conhecimentos atuais acerca do diagnóstico da HTBI, foram selecionados, no Medline, os artigos de periódicos médicos internacionais mais relevantes desde a descrição inicial desta condição, em 1954. Os critérios para diagnóstico de HTBI são: acometer crianças com idade inferior a cinco anos, ausência de sintomas ou presença de sintomas associados a doenças não relacionadas, sem evidência clínica ou laboratorial de doença óssea ou hepática. A elevação da fosfatase alcalina varia entre 3 e 50 vezes o limite superior do valor para a idade. A análise das isoenzimas mostra elevação das formas óssea e hepática. Os níveis séricos da fosfatase alcalina retornam ao normal em quatro meses. A elevação sérica da fosfatase alcalina foi relatada em patologias como hiperfosfatasemia familiar persistente assintomática e sintomática e hiperfosfatasemia persistente não-familiar. É indispensável que a HTBI seja considerada no diagnóstico diferencial de um aumento considerável dos níveis séricos de fosfatase alcalina em crianças, sem que seja detectada uma causa óbvia, o que evitará procedimentos desnecessários e dispendiosos durante a investigação diagnóstica.Salvado

Brazilian Journal of Infectious Diseases

p. 571-579Several methodological issues may have an impact on the incidence rates of childhood acute diarrhea reported by community-based studies. This study was performed to assess the impact of parental recall ability and definition of diarrhea on the estimate of incidence of acute diarrhea. Eighty-four children younger than 40 months were randomly selected and visited every other day for four weeks and the occurrence of diarrhea was registered. On the last day of the study, another visit was performed and the informants were inquired about the occurrence of diarrhea during the previous four weeks. Data gathered during the four weeks were compared to those obtained on the last visit. Additionally, the informants' definition of diarrhea was investigated and compared to the one adopted by this study. During the observation period, 33 children suffered diarrhea, but only 10 (30.3%) informants reported the occurrence of diarrhea. Although 42.4% of those informants reported that their children had been ill over that period, they did not report diarrhea. Further, 60.6% children who had diarrhea suffered at least one episode in the two weeks prior to the visitation. The same definition of diarrhea used in this study was adopted by 52.1% of the informants inquired. Parental recall is an unreliable method to estimate the incidence of diarrhea and studies with a short interval between the visits should be necessary to correctly evaluate this important health problem. Moreover, assessing the informants' own definition of diarrhea is a significant contribution to the interpretation of the results.Salvado