Fracturas da extremidade proximal do fémur no idoso: recomendações para intervenção terapêutica

As fracturas da extremidade proximal do fémur são frequentes em pessoas de idade avançada, com índices de morbilidade e de mortalidade elevados. “Vimos ao mundo pela bacia e dele vamos pelo colo do fémur”, reflecte a atitude derrotista com que se encaravam, em 1955, as fracturas do colo do fémur. O desenvolvimento de novas técnicas cirúrgicas e de novos implantes veio melhorar substancialmente o prognóstico destas fracturas, que são hoje encaradas como uma patologia que permite uma recuperação nalguns casos total, restituindo o doente à sua vida social anterior à fractura. Esta publicação, dirigida a todos os profissionais directamente envolvidos no tratamento dos doentes com fractura da extremidade proximal do fémur, tem como objectivos estabelecer recomendações para intervenção terapêutica e alertar para princípios básicos e normas de procedimento que facilitem um tratamento ainda mais correcto e eficaz. O tratamento hospitalar, com particular relevância para a intervenção cirúrgica, é fundamental, mas, se não houver um grande empenhamento de uma equipa multi-interdisciplinar, o seu sucesso poderá estar em risco. A aplicação das recomendações agora compiladas, que certamente já são do conhecimento da grande maioria dos profissionais, necessitará do empenhamento de todas as instituições e de todos os profissionais, para que, com uma redução dos custos ou sem agravamento dos mesmos, se possa obter uma optimização dos resultados

Natalizumab for the treatment of pediatric-onset multiple sclerosis in Portugal

Background: A significant proportion of pediatric-onset multiple sclerosis (POMS) patients do not respond to first-line disease-modifying therapies. Clinical trials showed that natalizumab is effective and safe in adults, but there are limited clinical trial data for children. Natalizumab is currently prescribed off-label for POMS. We aimed to characterize the effectiveness, safety and tolerability of natalizumab in all POMS cases treated in Portugal (from 2007 to 2018). Methods: Data from clinical records were retrospectively collected for all POMS cases treated with natalizumab in Portugal. Results: Twenty-one patients were included, 14 (67%) of which were female. The median age at POMS diagnosis was 13 years old. The median duration of treatment with natalizumab was 2 years and 3 months. Median Expanded Disability Status Scale score decreased from 1.5 to 1.0 after 24 months. The Annualized Relapse Rate decreased from 1.31 events/patient/year before treatment with natalizumab to 0 after 12 months of treatment and to 0.04 after 24 months. No gadolinium-enhancing lesions or new or enlarged T2 hyperintense lesions were observed in 8/8 patients (100%) after 12 months, and 4/5 (80%) after 24 months. There was one possible serious adverse event, which did not require dose adjustment. Five patients discontinued treatment due to positive anti-JCV (JC virus) antibody JC serostatus. Conclusion: Natalizumab may be an effective and safe disease-modifying therapy for POMS. Our results are in line with data published for the adult population, as well as with similar observational studies in pediatric populations in other regions.publishersversionpublishe

Cistinúria como causa de litíase renal bilateral em lactente

A litíase renal é pouco frequente em idade pediátrica e a sua manifestação clínica é variável. No entanto, é possível identificar em grande número destas crianças os factores precipitantes para formação de litíase, entre eles, causas metabólicas.Descreve-se o caso de um lactente de 5 meses, sexo masculino, que manifestou quadro de vómitos, recusa alimentar e presença de sangue na fralda. O exame citoquímico de urina revelou hematúria e o exame cultural foi negativo. A ecografia revelou litíase renal bilateral e na investigação etiológica constatou-se aumento da excreção de cistina na urina, estabelecendo-se o diagnóstico de cistinúria.A cistinúria representa 6 a 8% da urolitíase na criança. A etiologia da nefrolitíase na criança tem alterado a predominância infecciosa para causas metabólicas

Apresentação Clínica da Intolerância Hereditária à Frutose Prévia à Diversificação Alimentar. O Papel dos Excipientes

We report a case of hereditary fructose intolerance (HFI) with clinical onset prior to beikost: A two-month-old infant who had a first symptomatic hypoglycemic episode (generalized motor epileptic crisis) during a febrile respiratory infection with dyspnoea, while medicated with clarithromycin and betamethasone oral formulations. At nine months he presented a new hypoglycemic episode two hours after eating a flavored yogurt. The hepatomegaly and laboratory findings suggested the diagnosis of Von Gierke’s disease, not confirmed by molecular studies. There after, mother reported repeated vomiting episodes two hours after the ingestion of certain foods, leading to the clinical suspicion of HFI, subsequently confirmed by genetic analysis. There are few cases reporting metabolic decompensation of HFI prior to complementary feeding, mainly in exclusively breastfed children. We concluded that some routine formulations have excipients that can precipitate metabolic decompensation in HFI

Unusual combination of gestational trophoblastic neoplasias: case report

Gestational trophoblastic disease comprises a heterogeneous group of lesions arising from abnormal proliferation of trophoblastic cells. An elevation of human chorionic gonadotropin after evacuation of a molar pregnancy should suggest the hypothesis of a persistent gestational trophoblastic neoplasia. We present a rare case of coexistence of choriocarcinoma and placental-site trophoblastic tumor in the same tumor, whose diagnosis was made based on the correlation of morphological, microscopic and immunocytochemical studies, due to the difficulty in diagnosing these mixed tumors based on conventional histology only

Koolen-de Vries syndrome – National Case Series with clinical and molecular characterization

Introduction: Koolen-de Vries Syndrome (KdVS) is a rare genetic condition, caused by a 17q21.31 microdeletion, or a pathogenic variant in KANSL1 gene. The clinical picture includes developmental delay (DD)/intellectual disability (ID) with expressive language particularly impaired, dysmorphisms, neonatal hypotonia, and friendly behaviour. Aim: To characterize at the molecular and clinical levels all patients in Portugal diagnosed with KdVS.N/