Morphological and Postural changes in the foot during pregnancy and puerperium : a longitudinal study

The aim of this study is to observe the morphological and postural changes to the foot that take place during pregnancy and the puerperium. Method: In this descriptive, observational, longitudinal study, we analysed 23 pregnant women, with particular attention to morphological and postural aspects of the foot, at three time points during and after pregnancy: in weeks 9-13 of gestation, weeks 32-35 of gestation and weeks 4-6 after delivery. The parameters considered were changes in foot length, the Foot Posture Index (FPI) and the Hernández Corvo Index, which were analysed using a pedigraph and taking into account the Body Mass Index (BMI). The same procedure was conducted in each review. Results: The statistical analyses obtained for each foot did not differ significantly between the three measurement times. A pronator-type footprint was most frequently observed during the third trimester of pregnancy; it was predominantly neutral during the postpartum period. Statistically significant differences between the measurement times were obtained in the right foot for cavus vs. neutral foot type (between the first and third trimesters and also between the first trimester and the puerperium) (in both cases, p < 0.0001). Conclusions: Foot length increases in the third trimester and returns to normal in the puerperium. According to FPI findings, the third trimester of pregnancy is characterised by pronation, while the posture returns to neutrality during the postpartum period. During pregnancy, the plantar arch flattens, and this persists during the puerperium. The incidence of cavus foot increases significantly in the third trimester and in the puerperium

Léri-Weill dyschondrosteosis: importance of physical examination

Aims: To report a case of Léri-Weill dyschondrosteosis, a rare hereditary bone dysplasia often associated with a haploinsufficiency of the SHOX (short stature homeobox-containing) gene. Case description: A three-year-old female had sought medical care for hypertension. Irrelevant personal and family background. The physical examination showed dysmorphic aspect with shortening of arms and legs, small hands and feet, and short neck. Hypertension was not confirmed. Genetic study for chromosomal deletion syndromes revealed mutations in the SHOX gene compatible with Léri-Weill dyschondrosteosis. Conclusions: Physical examination is essential in clinical practice, allowing the identification of major changes that are not always the reason for the medical appointment. Early diagnosis and proper guidance are essential in Léri-Weill dyschondrosteosis, especially because of its therapeutic implications. The outcome is favorable if the disorder is treated with growth hormone therapy

Discondrosteose de Léri-Weill: importância do exame físico = Léri-Weill dyschondrosteosis: importance of physical examination

Objetivos: Descrever um caso de Discondrosteose de Léri-Weill, uma displasia óssea hereditária rara, frequentemente associada a uma haploinsuficiência do gene SHOX (short stature homeobox-containing). Descrição do caso: Criança de três anos, sexo feminino, enviada à consulta de pediatria por suspeita de hipertensão arterial. Antecedentes pessoais e familiares irrelevantes. Ao exame físico apresentava aspeto dismórfico, com encurtamento dos membros superiores e inferiores, mãos e pés pequenos e pescoço curto. A hipertensão arterial não foi confirmada. O estudo genético para excluir cromossomopatia revelou mutações no gene SHOX compatíveis com Discondrosteose de Léri-Weill. Conclusões: O exame físico é fundamental na prática clínica, permitindo identificar alterações importantes que nem sempre são o motivo da consulta. Na Discondrosteose de Léri-Weill o pronto diagnóstico e a orientação adequada são fundamentais, sobretudo pelas implicações terapêuticas desse distúrbio, que apresenta evolução favorável se tratado com hormônio do cresciment

Adolescent alcoholism: the reality of a Paediatric Unit

Introdução: O álcool é a droga de abuso mais consumida entre os adolescentes, levando a acidentes, comportamentos de risco, problemas escolares e familiares e dependência. Objetivos: Caracterizar o perfil e o padrão de consumo de álcool dos adolescentes admitidos por intoxicação alcoólica no serviço de urgência pediátrico do Centro Hospitalar Tondela- -Viseu. Métodos: Estudo retrospetivo descritivo dos casos de adolescentes entre os 11 e 17 anos e 364 dias admitidos no serviço de urgência pediátrico do Centro Hospitalar Tondela-Viseu com o diagnóstico de intoxicação alcoólica aguda entre Janeiro 2006 e Dezembro de 2010 (cinco anos). Resultados: Foram admitidos 74 adolescentes com diagnóstico de intoxicação alcoólica aguda, com idade média de 15 anos e maioritariamente do sexo masculino. O contexto dominante foi festivo, com colegas, preferindo as bebidas destiladas. Na admissão a pontuação pela Escala de Glasgow foi em média 12 (7% casos com Glasgow inferior a oito). A taxa de alcoolemia média à entrada foi de 1,78g/l, com um máximo de 3,47g/l. Detetaram-se consumos de outras drogas em 10% dos casos. Como comorbilidades predominaram as lesões tipo escoriações e traumatismos cranianos leves; apenas um caso de fratura supraorbitária. Apenas sete casos necessitaram de internamento superior a 24 horas. Discussão e conclusões: Os consumos dos adolescentes admitidos no nosso serviço são experimentais, em grupo, preocupando as altas taxas de alcoolemia e a exposição ao risco, nomeadamente acidentes. Não se verificaram taxas elevadas de outros consumos.Introduction: Alcohol is the leading substance abuse among adolescents, and is associated with risk behaviours, school and family problems and dependency. Objectives: To characterize the profile and pattern of alcohol consumption in the adolescents admitted for alcohol intoxication in the paediatric emergency department in Tondela- Viseu Hospital Center, Viseu. Methods: Retrospective descriptive study of the admissions of adolescents in the emergency paediatric department, with the diagnosis of alcohol intoxication during a five years’ period (January 2006 – December 2010). Results: Seventy-four teenagers (aged 11 to 17 years/ mean age: 15 years) were admitted with the diagnosis of acute alcohol intoxication, 77% male. The main context of alcohol abuse was with friends, at parties, and mostly distilled spirits drinks. On admission the average Glasgow Scale score was 12 (inferior to eight in 7%). The average blood alcohol level at admission was 1.78 g/l, with a maximum of 3.47 g/l. Consumption of other drugs was found in 10% of cases. The more frequent co-morbidities were abrasion, lesions and minor head injuries; only one case of supra-orbital fracture. Only seven cases required hospitalization over 24hours. Discussion and conclusions: Alcohol abuse in adolescents admitted to our service was experimental and in group. Major concerns are the high rates of alcohol level and the exposure to risk, including accidents. There weren’t high rates of of use of other drugs

Doença meningocócica recorrente: um sinal de alerta…

Recurrent meningococcal disease is a red flag for immune deficits with increased susceptibility for Neisseria meningitidis infections. Meningococcal disease still causes high morbidity and mortality throughout the world, despite the advances in understanding its pathophysiology and implementing effective treatment. Recurrent meningococcal disease mandates the exclusionof complement deficiencies. The authors report a case of recurrent meningococcal disease in a 5-year-old girl who was positive for complement component C7 deficiency. Thorough clinical surveillance, tailored immunization, and early antibiotic treatment arefundamental in preventing morbidity and mortality related with the disease.A meningococemia recorrente constitui um sinal de alerta para imunodeficiências com elevada suscetibilidade a infeções por Neisseria meningitidis. Apesar dos avanços no reconhecimento da fisiopatogenia da doença e da instituição de medidas terapêuticas adequadas, esta continua a cursar com elevada morbi-mortalidade em todo o mundo. Na presença de infeções meningocócicas recorrentes, as deficiências do complemento devem ser pesquisadas. Os autores apresentam um caso de meningococemia recorrente numa menina de 5 anos na qual foi identificado um défice do componente C7 do sistema do complemento. Nestas situações é imperiosa a vigilância clínica, vacinação adequada e instituição de terapêutica antibiótica precoce são estratégias fundamentais para a redução da mortalidade e do risco de sequelas e a mortalidade

Genomic imbalances defining novel intellectual disability associated loci

High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 325 Portuguese patients with intellectual disability (ID).This work has been funded by FEDER funds, through the Competitiveness Factors Operational Programme (COMPETE), and by National funds, through the Foundation for Science and Technology (FCT), under the scope of the projects: PIC/IC/83026/2007, PIC/IC/83013/2007 and POCI-01-0145-FEDER-007038. This work has also been funded by the project NORTE-01-0145-FEDER-000013, supported by the Northern Portugal Regional Operational Programme (NORTE 2020), under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (FEDER). FL was supported by Foundation for Science and Technology (FCT) through the fellowship SFRH/BD/90167/2012

A multi-taxon analysis of European Red Lists reveals major threats to biodiversity.

Acknowledgements: The European Red List assessments have been compiled by numerous species experts, many of whom are affiliated with the IUCN Species Survival Commission and are listed as co-authors of the assessments on the IUCN Red List of Threatened Species. The views expressed in this publication do not necessarily reflect those of IUCN or those of the EC. The designation of geographical entities in this paper, and the presentation of the material, do not imply the expression of any opinion whatsoever on the part of IUCN or the EC concerning the legal status of any country, territory, or area, or of its authorities, or concerning the delimitation of its frontiers or boundaries.Funder: European Commission; funder-id: http://dx.doi.org/10.13039/501100000780Funder: National Parks and Wildlife Service; funder-id: http://dx.doi.org/10.13039/100012733Funder: Republic of IrelandFunder: Ministry of Economic Affairs; funder-id: http://dx.doi.org/10.13039/501100004725Funder: Department of Nature & Biodiversity (Ministerie van Economische Zaken, Directie Natuur & Biodiversiteit), the NetherlandsFunder: Council of EuropeFunder: Office fédéral de l’environnement, SwitzerlandFunder: Swedish Environmental Protection Agency (Naturvardsverket), SwedenFunder: British Entomological Society, United KingdomFunder: Ministry of Sustainable Development and Infrastructure, Government of the Grand-Duché of LuxembourgFunder: Ministry of the Environment of the Czech RepublicFunder: ArtDatabanken from the Swedish University of Agricultural SciencesBiodiversity loss is a major global challenge and minimizing extinction rates is the goal of several multilateral environmental agreements. Policy decisions require comprehensive, spatially explicit information on species' distributions and threats. We present an analysis of the conservation status of 14,669 European terrestrial, freshwater and marine species (ca. 10% of the continental fauna and flora), including all vertebrates and selected groups of invertebrates and plants. Our results reveal that 19% of European species are threatened with extinction, with higher extinction risks for plants (27%) and invertebrates (24%) compared to vertebrates (18%). These numbers exceed recent IPBES (Intergovernmental Platform on Biodiversity and Ecosystem Services) assumptions of extinction risk. Changes in agricultural practices and associated habitat loss, overharvesting, pollution and development are major threats to biodiversity. Maintaining and restoring sustainable land and water use practices is crucial to minimize future biodiversity declines