Doenças raras: o que o pediatra necessita saber

Rare disease or an orphan disease is a disease that affects a small percentage of the population. Most of these diseases are present throughout the patients life, even if the symptoms do not appear immediately. They are often fatal or chronically debilitating and the impact on the quality of life of patients and their families is significant. Patients with rare diseases often experience delays in diagnosis, which can negatively impact management and delay treatment. Familial genetic testing or cascade genotyping of all newly diagnosed individuals can speed up the diagnosis of these diseases and allow more patients to be identified at a younger age. Care for patients with chronic and rare diseases is complex, mainly due to lack of knowledge about the disease, which makes accurate and early diagnosis difficult, in addition to the need to perform specific tests, which are sometimes highly complex and costly. Added to these factors are difficulties in obtaining adequate treatment when available, raising awareness of the patient and family about the disease and adherence to treatment.A multidisciplinary approach is very important: care provided by a doctor, nurse, psychologist, nutritionist and social worker. These professionals, in addition to medical care, address the particularities of the disease and treatment, the impact on the life of the patient and his family, the approach to psychological and social issues, and guidance regarding medications and diets

AN EXPLORATION OF HEALTH AND SAFETY MANAGEMENT ISSUES IN NIGERIA’S EFFORT TO INDUSTRIALIZE

All organizations have a duty of care to ensure that employees and other persons who may be affected by the company’s undertakings remain safe at all times. This paper examines the background of occupational health and safety (OHS) practices in Nigeria, and highlights the importance of mitigating the OHS challenges identified from the moral, legal, financial and other dimensions. In the Nigerian context, the need to reinforce health and safety management (HSM) issues is exemplified from the unsavory recurrent reports of plane crashes in the aviation industry, high rates of motor vehicle accidents, numerous cases of death due to poisoning in the solid mineral sector, frequent accounts of disasters in the petroleum sector arising from oil spills, pipeline vandalism as well as accidents involving petroleum tankers. More effective and efficient management of these issues is a sine qua non to the industrialization efforts of an economy. Against the background of extant HS legislation in Nigeria, some reasons for the frequent violations of OHS standards and norms by the operators were identified as bribery and corruption in the system, the ‘Nigerian Factor’, inadequate funding of monitoring institutions, low level of education of employees as well as problems of persistent unemployment in the country. While recommending ways to mitigate the OHS flaws in Nigerian institutions, the relative duties and responsibilities of stakeholders in the OHS business were identified. The paper concludes by noting the importance of a virile HSM environment to the overall economic development and industrialization of the nation

Importância do dismorfismo eritrocitário na investigação da origem da hematúria: revisão da literatura The importance of the dysmorphic erythrocyte for investigation of the source of hematuria: literature review

As hematúrias são achados comuns nos exames de urina de rotina e nem sempre são sinais de doenças. A presença de hematúria associada a outras alterações urinárias, especialmente a proteinúria, sugere comprometimento do trato urinário e merece investigação. Na literatura são inúmeros os trabalhos que valorizam a sedimentoscopia urinária, principalmente a morfologia das hemácias, como indicativo do local do sangramento: se glomerular ou não-glomerular. Neste artigo, os autores revisam o estudo do dismorfismo eritrocitário, enfatizando a definição, a fisiopatologia, os métodos, os valores de referência e as limitações apontadas na literatura. As comparações com demais marcadores de hemorragia glomerular também foram discutidas. No final, os autores relatam como a literatura interpreta e utiliza os resultados da pesquisa do dismorfismo eritrocitário para guiar a propedêutica complementar na investigação da origem da hematúria.<br>The hematurias are a frequent finding in urinary routine exams and do not necessarily indicate illness. The presence of hematuria associated with other urinary disturbances, especially proteinuria, indicates urinary tract pathology and should be investigated. In the literature, several studies point out the importance of urinary sedimentoscopy, specially the red cells morphology, to determine the source of bleeding: glomerular or non-glomerular. In this article, the authors review the dysmorphic erythrocyte, emphasizing on the meaning, the physiopathology, the methods, the cut-of values, and the limitations according to the literature. The comparisons with other markers of glomerular bleeding were also discussed. At the end, the authors exposed how the literature analyses and applies the dysmorphic erythrocyte results to guide the complementary research for investigation the source of urinary bleeding

Urolitíase pediátrica: experiência de um hospital infantil de cuidados terciários

Resumo Introdução: A urolitíase pediátrica tornou-se mais prevalente nas últimas décadas, com altas taxas de recorrência e considerável morbidade. A maioria das crianças com urolitíase idiopática tem uma anormalidade metabólica subjacente e a investigação adequada permite intervenções terapêuticas para reduzir a formação de novos cálculos e suas complicações. Objetivos: Identificar características demográficas e clínicas da urolitíase pediátrica, a etiologia, condutas terapêuticas, recidiva da doença e evolução dos pacientes em um hospital infantil de cuidados terciários. Métodos: Estudo descritivo e retrospectivo com pacientes pediátricos internados no Hospital Infantil Joana de Gusmão, Florianópolis, SC, Brasil, com diagnóstico de urolitíase, no período de janeiro 2002 a dezembro de 2012. Dados foram obtidos dos prontuários e foram incluídos aqueles com diagnóstico confirmado por exame de imagem e urina 24h ou amostra única urinária. Resultados: Foram avaliados 106 pacientes (65%M) pediátricos. Idade média ao diagnóstico 8,0 ± 4,2 e 85% tinham história familiar positiva para urolitíase. Dor abdominal, cólica nefrética clássica e infecção urinária foram as principais manifestações. 93,2% tinham alteração metabólica, sendo a hipercalciúria a mais comum. Tratamento farmacológico foi instituído em 78% dos casos. Utilizou-se citrato de potássio e hidroclorotiazida. Tratamento cirúrgico foi realizado em 38% dos pacientes. Houve resposta ao tratamento em 39% deles, com recidiva da urolitíase em 34,2%. Apenas 4,7% dos pacientes continuaram acompanhamento, 6,6% foram encaminhados para outros serviços, 8,5% receberam alta e 73,8% perderam acompanhamento. Conclusão: A urolitíase pediátrica merece avaliação metabólica detalhada após sua apresentação inicial para tratamento, acompanhamento e prevenção da formação lítica e de suas complicações

Role of FGF23 in Pediatric Hypercalciuria

Background. This study explored the possible role of FGF23 in pediatric hypercalciuria. Methods. Plasma FGF23 was measured in 29 controls and 58 children and adolescents with hypercalciuria: 24 before treatment (Pre-Treated) and 34 after 6 months of treatment (Treated). Hypercalciuric patients also measured serum PTH hormone, 25(OH)vitD, phosphate, calcium, creatinine, and 24 h urine calcium, phosphate, and creatinine. Results. There were no differences in age, gender, ethnicity, or body mass index either between controls and patients, or between Pre-Treated and Treated patients. Median plasma FGF23 in controls was 72 compared with all patients, 58 RU/mL (p=0.0019). However, whereas FGF23 in Pre-Treated patients, 73 RU/mL, was not different from controls, in Treated patients it was 50 RU/mL, significantly lower than in both controls (p<0.0001) and Pre-Treated patients (p=0.02). In all patients, there was a correlation between FGF23 and urinary calcium (r=0.325; p=0.0014). Treated patients had significantly lower urinary calcium (p<0.0001), higher TP/GFR (p<0.001), and higher serum phosphate (p=0.007) versus Pre-Treated patients. Conclusions. Pharmacological treatment of hypercalciuric patients resulted in significantly lower urinary calcium excretion, lower serum FGF23, and elevated TP/GFR and serum phosphate concentration, without significant changes in PTH. Further studies are indicated. This trial is registered with Clinical Registration Number RBR 8W27X5

American and Brazilian Children With Primary Urolithiasis

Objectives . Considering the differences in location, socioeconomic background, and cultural background, the aim of this study was to try to identify possible factors associated with the increased incidence of urolithiasis by comparing American and Brazilian children with stones. Methods . Data of 222 American and 190 Brazilian children with urolithiasis were reviewed including age, gender, body mass index, imaging technique used (ultrasound and computed tomography), and 24-hour urine volume and chemistries. Results . There were no differences between age and gender at diagnosis. Brazilian children were leaner but in no population did obesity rate exceed that of the general population. Ultrasound was most commonly used to diagnose stones, even more so in Brazilians. Decreased urine flow was more common among Americans ( P = .004), hypercalciuria among Brazilians ( P = .001), and elevated Ca/citrate ratio among Americans ( P = .009). There were no differences between the groups in the frequency of hypocitraturia, hyperuricosuria, absorptive hyperoxaluria, and cystinuria. Conclusions . Despite some differences between the populations, the leading causes of urolithiasis among both were “oliguria,” hypercalciuria, and high Ca/citrate ratio. In neither country was obesity the reason for the increase in incidence of urolithiasis, nor was the use of computed tomography. The similarities between the 2 populations call for combining efforts in addressing the leading causes of pediatric urolithiasis

Hereditary fructose intolerance in Brazilian patients

Introduction: Hereditary fructose intolerance (HFI) is a rare inborn error of carbohydrate metabolism, autosomal recessive, caused by mutations in the gene ALDOB, leading to deficiency of aldolase B. Symptoms begin in the first months of life with the introduction of complementary foods containing fructose, sucrose or sorbitol, often with vomiting, feeding problems and failure to thrive. Prolonged exposure may cause liver and kidney failure, which can lead to death. Treatment consists in removing the toxic sugars of diet. Materials and methods: Clinical and molecular characterization of four unrelated patients from the State of Minas Gerais, Brazil, all children from non-consanguineous parents. Results and discussion: Age at diagnosis was between 10 and 32 months and the severity of the disease correlated with the increasing of age at diagnosis. The predominant symptoms were vomiting, weight loss, and hepatomegaly. Severe renal tubular acidosis manifested in one child. All patients had remission of symptoms after dietary modification. The sequencing of the ALDOB gene identified one homozygous patient for the mutation c.524C>A (p.A175D), while the others were compound heterozygous for c.360_363delCAAA (p.N120KfsX32), c.178C>T (p.R60X) mutations, c.448G>C (p.A150P) and c.524C>A (p.A175D). Clinical improvement of patients after dietary treatment is suggestive of the diagnosis, confirmed by molecular analysis. The prevalence of mutations found in our Brazilian patients is different from those of international literature