Myotonic dystrophy type 1 (Steinert disease): 29 years of experience at a tertiary pediatric hospital.

BACKGROUND: Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by the expansion of a noncoding triplet repeat. METHODS: A cross-sectional study was performed to characterize pediatric patients with DM1 followed in a tertiary hospital over the last 29 years, comparing the congenital and the childhood/juvenile-onset forms. RESULTS: Thirty-seven patients (59.5 % male) were included, with a median age at the latest assessment of 16.8 years and a median follow-up of 7.7 years. Eleven patients were lost to follow-up, and two died. Twenty-five had congenital DM1 (CDM1), and this form had significantly higher triplet repeat length, history of polyhydramnios, lower median age at diagnosis, and first and last assessment. Common symptoms included distal skeletal muscle weakness (75.7 %) and facial involvement (94.6 %), along with dysphonia/dysarthria (73.0 %) and myotonia (73.0 %). Delayed independent ambulation frequency was significantly higher for CDM1 cases. Skeletal deformities affected 54.1 %, with talipes equinovarus and scoliosis occurring exclusively in CDM1 patients. Cognitive deficit was present in 75.7 % of cases. Polysomnograms revealed seven cases of obstructive sleep apnea and two of hypoventilation. Noninvasive ventilation was used in nine cases, and three had recurrent respiratory infections. The cardiovascular system was affected in 21.6 % of cases. Gastrointestinal issues included constipation (24.3 %), feeding difficulties (16.2 %), and cholelithiasis (5.4 %). Cataracts, epilepsy, and diabetes mellitus were reported in two cases each. CONCLUSION: Our study highlights the diverse spectrum of severity and multiorgan involvement of DM1 in pediatric patients. It underscores the importance of establishing a pediatric-specific standard of care to enhance health outcomes through comprehensive multidisciplinary management.

Autoimmune pulmonary alveolar proteinosis in children.

In childhood, a multitude of causes lead to pulmonary alveolar proteinosis (PAP), an excessive surfactant accumulation in the alveolar space, limiting gas exchange. Autoantibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF) causing autoimmune PAP, the principal aetiology in adults, are rare. In this first case series on autoimmune PAP, we detail the presentation and management issues of four children. Whereas three children presented insidiously with progressive dyspnoea, one was acutely sick with suspected pneumonia. During management, one patient was hospitalised with coronavirus disease 2019, noninvasively ventilated, and recovered. All treatment modalities known from adults including whole-lung lavage, augmentation of GM-CSF by inhaled GM-CSF, removal of neutralising antibody by plasmapheresis and interruption of antibody production using rituximab were considered; however, not all options were available at all sites. Inhaled GM-CSF appeared to be a noninvasive and comfortable therapeutic approach. The management with best benefit-to-harm ratio in autoimmune PAP is unknown and specialised physicians must select the least invasive and most effective treatment. To collect this cohort in a rare condition became feasible as patients were submitted to an appropriate registry. To accelerate the authorisation of novel treatments for autoimmune PAP, competent authorities should grant an inclusion of adolescents into trials in adults.

Recent Efforts to Recover Armeria berlengensis, an Endemic Species from Berlengas Archipelago, Portugal.

Berlengas archipelago is a UNESCO world heritage site and the only location where Armeria berlengensis is found. This species faces various threats, namely, human disturbance, the presence of Carpobrotus edulis, yellow-legged gull, common-rabbit, and black-rat populations. Thus, exclusion areas were installed, which blocked the access of most Gulls, aiming to promote the recovery of A. berlengensis. Additionally, rabbits and rats were removed from the island. After six years of surveys, there has been an increase in the number of individuals of A. berlengensis in the exclusion areas, and a clear shift in the size structure of the A. berlengensis population. Significant changes in the height and diameter of the individuals were also noted. These findings indicate that the population of A. berlengensis is changing and becoming a healthier population. Principal component analysis results show a straightforward dissimilarity between the areas with A. berlengensis and those without the species and allowed the clustering of two groups: the rupicolous species and the nitrophilous species. A. berlengensis produces few seeds (seed set 3.4%), which raises concern regarding the long-term survival of the species. Thus, further conservation efforts must be implemented, such as the control of invasive species, gulls, and ruderals, to allow for the recovery of A. berlengensis.

[Fibrinolytics in the Treatment of Complicated Pleural Effusions]. / Fibrinolíticos no Tratamento de Derrames Pleurais Complicados.

INTRODUCTION: The treatment of complicated pleural parapneumonic effusions with intrapleural instillation of fibrinolytics, has shown similar results as surgical treatment. The present study aimed to evaluate the results of the use of intrapleural instillation of fibrinolytics in the treatment of complicated pleural parapneumonic effusions, in patients followed in our hospital. MATERIAL AND METHODS: A retrospective review of all the patients (aged between one month and 18 years) diagnosed with complicated parapneumonic effusions, which had chest drain insertion with intrapleural instillation of fibrinolytic, between January 2005 and December 2013, was undertaken. RESULTS: A total of 37 patients were identified. Mean duration of hospital stay was 17 ± 7.60 days. Chest drain was placed in the first 48 h of hospital admission in most of the patients (89.2%), with a mean of six days of drainage. Treatment failure was reported in 2.7% of cases and was related with effusion recurrence. This patient underwent video-assisted thoracoscopic surgery with the need to convert to open thoracotomy. A favorable outcome was achieved in 96.9 % of cases. DISCUSSION: In our review, therapeutic success rate was as expected, with a failure rate below those reported in literature. We present intrapleural instillation of fibrinolytics and video-assisted thoracoscopic surgery as part of the same protocol, in which fibrinolytic therapy is the first-line treatment. CONCLUSION: The therapeutic option presented shows a low failure rate and avoids a more aggressive surgical procedure. We consider this an effective treatment option, with low sequelae rate.

Introdução: A instilação intrapleural de fibrinolítico, no tratamento dos derrames pleurais parapneumónicos complicados, tem demonstrado resultados equivalentes ao tratamento cirúrgico. Este estudo foi realizado para avaliar e descrever os resultados da aplicaçãode fibrinolítico no tratamento de derrame pleural parapneumónico complicado, nos doentes seguidos no nosso hospital. Material e Métodos: Revisão retrospetiva, entre janeiro de 2005 e dezembro de 2013, dos doentes (idade superior a um mês e inferior a 18 anos) com diagnóstico de derrame pleural parapneumónico complicado, submetidos a colocação de dreno torácico e instilação intrapleural de fibrinolítico. Resultados: Identificaram-se um total de 37 doentes. A duração média do internamento foi de 17 ± 7,60 dias. Na maioria dos doentes (89,2%) o dreno torácico foi colocado nas primeiras 48 h após admissão, com seis dias de média de drenagem. Verificou-se falência terapêutica em 2,7% dos casos, por recidiva do derrame. Este doente foi submetido a toracoscopia videoassistida com necessidade de conversão do procedimento para toracotomia. A evolução clínica foi favorável em 96,9% dos casos. Discussão: Na nossa revisão a taxa de sucesso terapêutico encontra-se dentro do esperado, com uma percentagem de falência inferior ao descrito na literatura. Apresentamos a instilação intrapleural de fibrinolítico e a toracoscopia videoassistida num mesmo protocolo de atuação, tendo como primeira linha terapêutica o fibrinolítico. Conclusão: A opção terapêutica apresentada teve uma baixa taxa de falência e permitiu evitar um procedimento cirúrgico mais agressivo. Consideramos que esta é uma opção de tratamento eficaz e que, na nossa amostra, cursou com uma baixa taxa de sequelas.