Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.

Delta phalanx is a rare abnormality typically associated with additional features. We describe a patient with a phenotype resembling Catel-Manzke syndrome, but with delta phalanx and abnormal vertebrae and ribs. The patient was the only child of half siblings born with a marked prenatal growth deficiency. At 10 years of age, she had a short stature, long face, long and tubular nose with small alae nasi, high palate, short and broad thorax, and short index fingers with radial deviation. There were hyperpigmentations following Blaschko's lines. Radiology showed a proximal delta phalanx in the index finger of hands, abnormal vertebrae, and fused and small ribs. GTG-Banding karyotype and microarray analysis yielded normal results. Exome sequencing identified 25 genes that harbored homozygous variants, but none of these is assumed to be a good candidate to explain (part of) the phenotype. The here described patient may have a new condition, possibly following an autosomal recessive pattern of inheritance, although due to the high degree of consanguinity a compound etiology of the phenotype by variants in various genes may be present as well.

Post-infectious bronchiolitis obliterans: can CT scan findings at early age anticipate lung function?

BACKGROUND: The image findings of post-infectious bronchiolitis obliterans (PIBO) have been described, however, we do not know if such findings can predict lung function (LF) deterioration with increasing patient age. AIM: To assess whether computed tomography (CT) abnormalities detected at an early stage of the disease can anticipate abnormal LF a decade later in children with PIBO. METHODS: We compared CT scans of 21 children with PIBO, done within their first 3 years of life, and their actual LF. To evaluate CT scans we used a modified Bhalla score and, for LF, FEV1 as percentage of predicted values. We calculated prevalence ratios (PRs) by comparing the proportion of patients with worst CT score and worst LF, with the proportion of those with best CT score and worst LF. RESULTS: PR was 1.17 (CI 1.02; 1.34, P = 0.02). CONCLUSIONS: The CT finding early in the life of children with PIBO, when assessed by the Bhalla, score seem to anticipate future LF status.

22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil.

The 22q11.2 deletion syndrome (22q11DS) is one of the most recognizable causes of congenital heart defects (CHDs), but the frequency varies in non-selected populations. The purpose of this study was to determine the incidence and clinical features of patients with CHD and 22q11DS admitted to a pediatric cardiology intensive care unit in Brazil. In a prospective study, we evaluated a consecutive series of 207 patients with a CHD following a clinical protocol and cytogenetic analysis by high resolution karyotype and fluorescent in situ hybridization (FISH). 22q11DS was identified in four patients (2%), a frequency similar to studies that evaluated subjects with major CHDs in other countries. Despite this similarity, we believe that the low rate of prenatal identification of CHDs and the limited access of these patients to appropriate diagnosis and care, which occur in our region, could have had an influence on this frequency. It is possible that 22q11DS patients with a severe CHD could have died before having a chance to access a tertiary hospital, leading to an underestimate of its frequency.

[Interobserver agreement in the radiological diagnosis of lower respiratory tract infections in children]. / Concordância no diagnóstico radiológico das infecções respiratórias agudas baixas em crianças.

OBJECTIVE: To evaluate the inter-observer agreement of radiological diagnosis of lower respiratory tract infections in children. METHODS: Chest X-rays from 60 children younger than 5 years of age were evaluated by three physicians: a pediatric radiologist (PR), a pediatric pulmonologist (PP) and an experienced emergency pediatrician (EP). All children had sought an emergency room due to acute respiratory infections with apparent lower respiratory tract involvement. Observers were blinded to the original diagnostic conclusions, but clinical and laboratory data from the initial medical evaluation were provided with each film. Variables were grouped into five categories: a) film quality; b) site of abnormality; c) radiological patterns; d) other radiographic images; e) diagnosis. Inter-observer agreement was assessed using Kappa statistics, accepting prevalence-bias-adjusted values (PABAK). compare the prevalence of breastfeeding and exclusive breastfeeding during the first six months of life among pacifier and non-pacifier users. RESULTS: Kappa values for each of the three observer pairs (RP vs. PP, RP vs. EP, and PP vs. PE) were 0.41, 0.43, and 0.39, respectively. The overall inter-observer agreement was moderate (0.41). Agreement on other variables was as follows: regular for "film quality" (0.30); moderate for "site of abnormality" (0.48); fair for "radiological patterns" (0.29); moderate for "other radiographic images" (0,43); and moderate for "diagnosis" (0.33). The overall intra-observer agreement was "moderate" (0.54), which is below the agreement values reported by other studies on chest X-ray variability. CONCLUSIONS: Inter-observer variability is an intrinsic characteristic of the interpretation of chest X-rays, and the diagnosis of lower respiratory tract infections in children remains a challenge. Most of our results were similar to those previously reported.

Concordância no diagnóstico radiológico das infecções respiratórias agudas baixas em crianças / Interobserver agreement in the radiological diagnosis of lower respiratory tract infections in children

OBJETIVO: Estudar a concordância no diagnóstico radiológico das infecções respiratórias agudas baixas em crianças. MÉTODOS: Sessenta radiogramas do tórax de crianças menores de cinco anos foram avaliados, individualmente, por três médicos: um radiologista pediátrico (RP), um pneumologista pediatra (PP) e um pediatra experiente no atendimento de sala de emergência (PE). Todas as crianças tinham procurado atendimento por apresentar um quadro agudo de infecçäo respiratória com aparente participaçäo pulmonar. Os avaliadores desconheciam os diagnósticos originais, mas receberam uma ficha padräo com dados clínicos e laboratoriais dos pacientes no momento da consulta inicial. As variáveis investigadas foram agrupadas em cinco categorias: a) qualidade técnica do filme; b) localizaçäo da alteraçäo; c) padröes radiográficos; d) outras alterações radiográficas; e) diagnóstico. Utilizou-se a estatística de Kappa para estudar a concordância entre as três duplas possíveis de observadores, aceitando-se os valores ajustados para viés de prevalência (KAVIP). RESULTADOS: Os valores de Kappa totais de cada dupla de observadores (RP x PP, RP x PE e PP x PE) foram 0,41, 0,43, e 0,39, respectivamente, o que representa, em média, uma concordância interobservadores moderada (0,41). Em relaçäo às outras variáveis, "qualidade técnica" teve uma concordância regular (0,30); "localizaçäo", moderada (0,48); "padröes radiográficos" regular (0,29); "outras alterações radiográficas", moderada (0,43); e "diagnóstico", regular (0,33). Quanto à concordância global intraobservadores, a mesma foi moderada (0,54), com valores menores do que os descritos na literatura. CONCLUSÕES: A variabilidade interobservadores é inerente à interpretaçäo dos achados radiológicos. A determinaçäo do diagnóstico exato das infecções respiratórias agudas baixas nas crianças impöe desafios. Nossos resultados foram similares aos descritos na literatura

Attendance at day care centers increases the risk of childhood pneumonia among the urban poor in Fortaleza, Brazil

Estudou-se o risco de pneumonia nas crianças menores de dois anos na regiäo metropolitana de Fortaleza entre junho/89 e maio/90. Foram investigadas as práticas relacionadas aos cuidados da criança como possíveis fatores de risco de penumonia. Fatores maternos, ambientais e sócio-econômicos foram também estudados devido a sua possível relaçäo com as práticas no cuidado da criança. Foi utilizada metodologia de caso-controle, sendo caso as crianças com diagnóstico clínico e radiológico de pneumonia, e controles aquelas crianças com diferença de idade inferior a dois meses que näo apresentassem sintomas de infecçäo respiratória, e que residissem na vizinhança do caso selecionado. Razäo de "odds" (RO) foi utilizada para estimar os riscos relativos, através de regressäo logística condicional. Os principais fatores de risco encontrados foram a frequência a creche (RO=5,2), trabalho da mäe (RO=1,6) e presença dos avós no domicílio (RO=1,4). A idade da mäe, o número de gestaçöes e a aglomeraçäo também estiveram associados com pneumonia.