Identification of clinical and radiographic predictors of central nervous system injury in genetic skeletal disorders.

Some studies report neurological lesions in patients with genetic skeletal disorders (GSDs). However, none of them describe the frequency of neurological lesions in a large sample of patients or investigate the associations between clinical and/or radiological central nervous system (CNS) injury and clinical, anthropometric and imaging parameters. The project was approved by the institution's ethics committee (CAAE 49433215.5.0000.0022). In this cross-sectional observational analysis study, 272 patients aged four or more years with clinically and radiologically confirmed GSDs were prospectively included. Genetic testing confirmed the diagnosis in the FGFR3 chondrodysplasias group. All patients underwent blinded and independent clinical, anthropometric and neuroaxis imaging evaluations. Information on the presence of headache, neuropsychomotor development (NPMD), low back pain, joint deformity, ligament laxity and lower limb discrepancy was collected. Imaging abnormalities of the axial skeleton and CNS were investigated by whole spine digital radiography, craniocervical junction CT and brain and spine MRI. The diagnostic criteria for CNS injury were abnormal clinical and/or radiographic examination of the CNS. Brain injury included malacia, encephalopathies and malformation. Spinal cord injury included malacia, hydrosyringomyelia and spinal cord injury without radiographic abnormalities. CNS injury was diagnosed in more than 25% of GSD patients. Spinal cord injury was found in 21.7% of patients, and brain injury was found in 5.9%. The presence of low back pain, os odontoideum and abnormal NPMD remained independently associated with CNS injury in the multivariable analysis. Early identification of these abnormalities may have some role in preventing compressive CNS injury, which is a priority in GSD patients.

The Quadruple Helix-Based Innovation Model of Reference Sites for Active and Healthy Ageing in Europe: The Ageing@Coimbra Case Study.

Challenges posed by demographic changes and population aging are key priorities for the Horizon 2020 Program of the European Commission. Aligned with the vision of the European Innovation Partnership on Active and Healthy Ageing (EIP on AHA), the development, exchange, and large-scale adoption of innovative good practices is a key element of the responses required to ensure all European citizens remain as active and healthy as possible as they age. Urged by the need of developing scalable disruptive innovation across Europe, the European Commission and the EIP on AHA created the Reference Sites; local coalition of partners that develop good practices to support AHA. Ageing@Coimbra is an example of how this can be achieved at a regional level. The consortium comprises over 70 institutions that develop innovative practices to support AHA in Portugal. Ageing@Coimbra partners support a regional network of stakeholders that build a holistic ecosystem in health and social care, taking into consideration the specificities of the territories, living environments and cultural resources (2,243,934 inhabitants, 530,423 aged 65 or plus live in the Centre Region of Portugal). Good practices in reducing the burden of brain diseases that affect cognition and memory impairment in older people and tackling social isolation in urban and rural areas are among the top priorities of Ageing@Coimbra. Profiting from the collaborative work of academia, business companies, civil society, and authorities, the quadruple helix of Ageing@Coimbra supports: early diagnosis of frailty and disease; care and cure; and active, assisted, and independent living. This paper describes, as a Community Case Study, the creation of a Reference Site of the EIP on AHA, Ageing@Coimbra, and its impact in Portugal. This Reference Site can motivate other regions to develop innovative formulas to federate stakeholders and networks, building consortia at regional level. This growing movement, across Europe, is inspired by the quadruple helix concept and by the replication of innovative good practices; creating new Reference Sites for the benefit of Citizens.

Prevalencia de nascimentos pre-termo por peso ao nascer: revisao sistematica / Prevalencia de nacimientos pre-termino por peso al nacer: revision sistematica / Prevalence of preterm birth according to birth weight group: a systematic review

OBJETIVO Estimar a prevalência de nascimentos pré-termo por faixas de peso ao nascer e obter uma equação para correção de estimativas. MÉTODOS Revisão sistemática da literatura nacional, de 1990 a 2012, para identificar estudos com coleta primária de informações sobre peso ao nascer e idade gestacional. Foram selecionados 12 que contribuíram com tabulações da prevalência de nascimentos pré-termo para faixas de 100 g de peso ao nascer. Os resultados desses estudos foram combinados pelo método de polinômios fracionais, sendo obtidas curvas separadas para meninos e meninas, comparadas com os resultados do Sistema de Informações sobre Nascidos Vivos para os anos 2000, 2005, 2010 e 2011. RESULTADOS As estimativas da prevalência de nascimentos pré-termo, obtidas a partir dos estudos primários, foram superiores às do Sistema de Informações sobre Nascidos Vivos para praticamente todas as faixas de peso ao nascer. A prevalência relatada pelo Sistema de Informações sobre Nascidos Vivos foi de 7,1% em 2010, cerca de 38% menor do que a estimativa de 11,7% obtida com a equação de correção. CONCLUSÕES Os dados do Sistema de Informações sobre Nascidos Vivos quanto à prevalência de nascimento pré-termo não refletem a verdadeira dimensão da prematuridade no Brasil. Assim sendo, para sua utilização, será necessária a aplicação do fator de correção, conforme proposto. .

OBJETIVO Estimar la prevalencia de nacimientos pre-término por rangos de peso al nacer y obtener una ecuación para corrección de estimaciones. MÉTODOS Revisión sistemática de la literatura nacional, de 1990 a 2012, para identificar estudios con colecta primaria de informaciones sobre peso al nacer y edad de gestación. Se seleccionaron 12 que contribuyeron con tabulaciones de la prevalencia de nacimientos pre-término para grupos de 100 g de peso al nacer. Los resultados de estos estudios fueron combinados por el método de polinomios fraccionales siendo obtenidas curvas separadas para niños y niñas, comparadas con los resultados del Sistema de Informaciones sobre Nacidos Vivos para los años 2000, 2005, 2010 y 2011. RESULTADOS Las estimaciones de la prevalencia de nacimientos pre-término, obtenidas a partir de los estudios primarios, fueron superiores a las del Sistema de Informaciones sobre Nacidos Vivos para prácticamente todos los grupos de peso al nacer. La prevalencia relatada por el Sistema de Informaciones sobre Nacidos Vivos fue de 7,1% en 2010, cerca de 38% menor que la estimativa de 11,7% obtenida con la ecuación de corrección. CONCLUSIONES Los datos del Sistema de Informaciones sobre Nacidos Vivos sobre prevalencia de nacimiento pre-término no reflejan la verdadera dimensión de la prematuridad en Brasil. Siendo así, para su utilización, será necesaria la aplicación del factor de corrección, conforme propuesto. .

OBJECTIVE To estimate the prevalence of preterm birth by categories of birth weight, and to obtain an equation to correct the estimates. METHODS Systematic review of the Brazilian literature published from 1990 to 2012, to identify studies with primary collection of data on birth weight and gestational age. Twelve studies were selected and contributed for tabulations of preterm prevalence according to 100 g birth weight categories. These results were combined using sex-specific fractional polynomial equations and the resulting curves were compared with results from the Live Birth Information System for the years 2000, 2005, 2010 and 2011. RESULTS For all birth weight categories, preterm prevalence estimates based on primary studies had a higher prevalence than those of the the Live Birth Information System. The prevalence reported by the Live Birth Information System was of 7.2% in 2010, about 38.0% lower than the estimated prevalence of 11.7% obtained with the correctional equation. CONCLUSIONS Information reported by the Live Birth Information System on preterm prevalence does not reflect the true magnitude of the problem in Brazil, and should not be used without the correction factors proposed in the present analyses. .

Muscle phenotypic variability in limb girdle muscular dystrophy 2 G.

Limb girdle muscular dystrophy type 2 G (LGMD2G) is caused by mutations in the telethonin gene. Only few families were described presenting this disease, and they are mainly Brazilians. Here, we identified one additional case carrying the same common c.157C > T mutation in the telethonin gene but with an atypical histopathological muscle pattern. In a female patient with a long duration of symptoms (46 years), muscle biopsy showed, in addition to telethonin deficiency, the presence of nemaline rods, type 1 fiber predominance, nuclear internalization, lobulated fibers, and mitochondrial paracrystalline inclusions. Her first clinical signs were identified at 8 years old, which include tiptoe walking, left lower limb deformity, and frequent falls. Ambulation loss occurred at 41 years old, and now, at 54 years old, she presented pelvic girdle atrophy, winging scapula, foot deformity with incapacity to perform ankle dorsiflexion, and absent tendon reflexes. The presence of nemaline bodies could be a secondary phenomenon, possibly associated with focal Z-line abnormalities of a long-standing disease. However, these new histopathological findings, characteristic of congenital myopathies, expand muscle phenotypic variability of telethoninopathy.

[Prevalence of preterm birth according to birth weight group: a systematic review]. / Prevalência de nascimentos pré-termo por peso ao nascer: revisão sistemática.

OBJECTIVE: To estimate the prevalence of preterm birth by categories of birth weight, and to obtain an equation to correct the estimates. METHODS: Systematic review of the Brazilian literature published from 1990 to 2012, to identify studies with primary collection of data on birth weight and gestational age. Twelve studies were selected and contributed for tabulations of preterm prevalence according to 100 g birth weight categories. These results were combined using sex-specific fractional polynomial equations and the resulting curves were compared with results from the Live Birth Information System for the years 2000, 2005, 2010 and 2011. RESULTS: For all birth weight categories, preterm prevalence estimates based on primary studies had a higher prevalence than those of the the Live Birth Information System. The prevalence reported by the Live Birth Information System was of 7.2% in 2010, about 38.0% lower than the estimated prevalence of 11.7% obtained with the correctional equation. CONCLUSIONS: Information reported by the Live Birth Information System on preterm prevalence does not reflect the true magnitude of the problem in Brazil, and should not be used without the correction factors proposed in the present analyses.

Variation in clinical presentation of childhood group A streptococcal pharyngitis in four countries.

We conducted a cross-sectional study from September 2001 to August 2003 during which children between 2 and 12 years of age presenting with complaint of sore throat were recruited from urban pediatric clinics in Brazil, Croatia, Egypt and Latvia. The objective of the study was to compare clinical signs and symptoms of children presenting to urban pediatric clinics with sore throat in and between countries and to identify common clinical criteria predicting group A beta hemolytic streptococcal (GAS) pharyngitis. Using a single standard protocol in all four sites, clinical data were recorded and throat swabs obtained for standard GAS culture in 2040 children. Signs and symptoms were tested for statistical association with GAS positive/negative pharyngitis, and were compared using chi(2) tests, ANOVA and Odds Ratios. Clinical signs of GAS pharyngitis in children presenting to clinics varied significantly between countries, and there were few signs or symptom that could statistically be associated with GAS pharyngitis in all four countries, though several were useful in two or three countries. Our results indicate that the clinical manifestations of pharyngitis in clinics may vary by region. It is therefore critical that clinical decision rules for management of pharyngitis should have local validation.

Effectiveness of home-based peer counselling to promote breastfeeding in the northeast of Brazil: a randomized clinical trial.

AIMS: To evaluate the effectiveness of home-based peer counselling to increase breastfeeding rates for unfavourably low birthweight babies. METHODS: Randomized clinical trial carried out in maternity hospitals and households in Fortaleza, one of the regions in Brazil with very low income; 1003 mothers and their newborns were selected in eight maternity hospitals. Newborns needed were healthy and weighed less than 3000 g. INTERVENTION: Breastfeeding counselling, conducted by lay counsellors from the community, during home visits carried out on days 5, 15, 30, 60, 90 and 120 after birth. MAIN OUTCOME MEASURE: Feeding methods in the fourth month of life. RESULTS: The intervention increased exclusive breastfeeding (24.7% vs 19.4%; p=0.044), delayed the introduction of formula and increased the time infants substituted breastfeeding to bottle milk (bottle milk 33.4% in the control group and 20.1% in the intervention group; p=0.00002). When comparing the frequency of artificial breastfeeding versus all other forms of breastfeeding (exclusive+predominant+partial), the intervention increased breastfeeding rates in 39% (RR=0.61; CI 95%: 0.50-0.75); 15% of children were free from artificial feeding (absolute risk reduction). The number of families to be visited to avoid one child receiving artificial feeding (NNT) was 7 (CI 95%: 5-13). CONCLUSIONS: Breastfeeding counselling, promoted by lay counsellors, can impact favourably on exclusive breastfeeding rates and contribute to delaying the utilization of milk formula and weaning. The intervention has great application potential because most cities in the northeast of Brazil count on community health workers that could do the counselling.

Colelitíase assintomática em crianças prematura extrema / Asymptomatic cholelithiasis in an extreme premature child

Objetivo: Relatar um caso de colelitíase assintomática em um lactente jovem, apresentando revisão de literatura. Métodos: os autores descrevem um caso de colelitíase assintomática, diagnosticada acidentalmente durante exame ultra-sonográfico rotineiro, com resolução espontânea. A revisão de literatura foi feita a partir do Medline e Lilacs, citações de artigos últimos 45 anos. Resultados: Paciente prematuro de 28 semanas com diagnóstico de colelitíase aos 5 meses de idade. Apresentava os seguintes fatores de risco: prematuridade, uso de nutrição parenteral total, uso prolongado de Furosemida e sepsis. O paciente manteve-se assintomático até a resolução do quadro. Conclusão: A colelitíase na infância tem sido relatada na literatura como uma situação rara, geralmente associada à doença hemolítica. O advento do ultra-som contribuiu para um aumento do diagnóstico no recém-nascido e no lactente jovem. Este trabalho chama a atenção para a possível resolução espontânea nos casos de colelitíase assintomática diagnosticados de forma acidental