189 results match your criteria: "Hospital Pediatrico de -Coimbra[Affiliation]"
BMJ Case Rep
February 2021
Pedeatric Oncology, Centro Hospitalar e Universitario de Coimbra EPE Hospital Pediátrico de Coimbra, Coimbra, Coimbra, Portugal.
Kidney Int
August 2020
ESPN/ERA-EDTA Registry, Amsterdam UMC, University of Amsterdam, Department of Medical Informatics, Amsterdam Public Health Research Institute, Meibergdreef 9, Amsterdam, The Netherlands.
One of the main objectives of the European health policy framework is to ensure equitable access to high-quality health services across Europe. Here we examined country-specific kidney transplantation and graft failure rates in children and explore their country- and patient-level determinants. Patients under 20 years of age initiating kidney replacement therapy from January 2007 through December 2015 in 37 European countries participating in the ESPN/ERA-EDTA Registry were included in the analyses.
View Article and Find Full Text PDFLeukemia
September 2020
Department of Immunology and Inflammation, Haematology Research Centre, Imperial College London, London, UK.
Our concept of cancer latency, the interval from when a cancer starts until it is diagnosed, has changed dramatically. A prior widely-used definition was the interval between an exposure to a cancer-causing substance and cancer diagnosis. However, this definition does not accurately reflect current knowledge of how most cancers develop assuming, mostly incorrectly, one exposure is the sole cause of a cancer, ignoring the possibility the cancer being considered would have developed anyway but that the exposure accelerated cancer development and eliding the randomness in when a cancer is diagnosed.
View Article and Find Full Text PDFRev Port Cardiol (Engl Ed)
June 2020
Hospital Pediatrico de Coimbra, Serviço de Cardiologia Pediátrica, Coimbra, Portugal.
BMJ Case Rep
January 2020
Paediatric Cardiology Department, Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
J Clin Med
January 2020
CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilhã, Portugal.
Maturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type of diabetes, which is characterized by early onset, autosomal dominant inheritance, and absence of insulin dependence. The most frequent subtypes are due to mutations of the (MODY 2), (MODY 3), and (MODY 1) genes. We undertook the first multicenter genetic study of MODY in the Portuguese population.
View Article and Find Full Text PDFAnn Pediatr Endocrinol Metab
December 2019
Department of Pediatrics, Centro Hospitalar de Leiria, Hospital de Santo André, Leiria, Portugal.
Maturity Onset Diabetes of the Young (MODY) includes a clinically and genetically heterogeneous group of diabetes subtypes with MODY-2 being the second most prevalent form. We report 2 cases of MODY-2 identified during the investigation of asymptomatic hyperglycemia. A 12-year-old girl with a familiar history of diabetes (mother, maternal aunt, and maternal grandfather) was referred due to hypercholesterolemia, abnormal fasting glucose (114 mg/dL), and increased levels of glycated haemoglobin (HbA1c) (6%) presenting with negative β-cell antibodies.
View Article and Find Full Text PDFIntroduction: Congenital deafness or early acquired deafness affects 1 to 3 out of 1000 newborns without risk factors and 20 to 40 out of 1000 newborns with risk factors. The universal newborn hearing screening enables its early identification. Children with congenital deafness/early acquired deafness have a higher prevalence of other conditions, especially ophthalmologic and neurodevelopmental ones, and at least 30% to 40% have at least one associated comorbidity.
View Article and Find Full Text PDFThe atypical hemolytic uremic syndrome comprises a thrombotic microangiopathy resulting from the complement alternate pathway hyperactivation. Its severity requires early diagnosis and treatment. The differential diagnosis includes typical hemolytic uremic syndrome (associated with Shiga toxin) and thrombotic thrombocytopenic purpura (associated with deficient activity of ADAMTS13).
View Article and Find Full Text PDFAm J Hum Genet
October 2019
Institute of Human Genetics, University Hospital of Cologne, 50931 Cologne, Germany; Faculty of Medicine, University of Cologne, 50931 Cologne, Germany.
Osteogenesis imperfecta (OI) comprises a genetically heterogeneous group of skeletal fragility diseases. Here, we report on five independent families with a progressively deforming type of OI, in whom we identified four homozygous truncation or frameshift mutations in MESD. Affected individuals had recurrent fractures and at least one had oligodontia.
View Article and Find Full Text PDFPrimary distal renal tubular acidosis is a genetic disorder characterized by the inability in acidification of urine. Symptoms are usually non-specific and highly variable. We described six cases in a family with four generations affected.
View Article and Find Full Text PDFActa Med Port
August 2019
Introduction: Invasive mechanical ventilation contributes to ventilator-induced diaphragmatic dysfunction, delaying extubation and increasing mortality in adults. Despite the possibility of having a higher impact in paediatrics, this dysfunction is not routinely monitored. Diaphragm ultrasound has been proposed as a safe and non-invasive technique for this purpose.
View Article and Find Full Text PDFRev Neurol
May 2019
Hospital Pediatrico de Coimbra, 3000 Coimbra, Portugal.
Introduction: Methylphenidate is a widely-used drug for the treatment of attention deficit/hyperactivity disorder (ADHD) and other neuropsychiatric disorders. Sustained-attention deficits and poorer task performance in these disorders have been associated with default mode network (DMN) dysfunction in fMRI studies. DMN is a set of brain areas more activated during the resting-state.
View Article and Find Full Text PDFBMJ Case Rep
April 2019
Hospital Pediatrico de Coimbra, Coimbra, Portugal.
Gallbladder diseases are uncommon in children. Acalculous acute cholecystitis, although rare, is the most frequent form of acute cholecystitis in childhood. In acalculous acute cholecystitis, clinical presentation and laboratory findings are unspecific, making the diagnosis challenging.
View Article and Find Full Text PDFBackground Optimally treated patients with coarctation of the aorta remain at risk for late vascular dysfunction. The effect of treatment modality on vascular function is unknown. The LOVE-COARCT (Long-term Outcomes and Vascular Evaluation After Successful Coarctation of the Aorta Treatment) study was done to compare vascular function in patients with coarctation of the aorta treated with surgery, balloon dilation (BD), or stent implantation.
View Article and Find Full Text PDFTransplantation
September 2019
Department of Paediatrics, Paediatric Gastroenterology and Hepatology Unit, Cliniques Universitaires St Luc, Université Catholique de Louvain, Brussels, Belgium.
Background: Regenerative medicine using stem cell technology is an emerging field that is currently tested for inborn and acquired liver diseases.
Objective: This phase I/II prospective, open label, multicenter, randomized trial aimed primarily at evaluating the safety of Heterologous Human Adult Liver-derived Progenitor Cells (HepaStem) in pediatric patients with urea cycle disorders (UCDs) or Crigler-Najjar (CN) syndrome 6 months posttransplantation. The secondary objective included the assessment of safety up to 12 months postinfusion and of preliminary efficacy.
Acta Med Port
February 2019
Consultora Independente para os Direitos da Criança. Portugal.
Introduction: According to the Convention on the Rights of Children and the national standards of the Portuguese Directorate-General for Health, adolescents have the right to make decisions about their own health. The aim of this study was to identify the dynamics of the implementation of assent and informed consent in hospital settings.
Material And Methods: Cross-sectional and multicentre study based on surveys, which included adolescents from 14 to 18 years and their parents.
Introduction: Breastfeeding has unique health benefits. Exclusive breastfeeding is recommended during the first six months of life and should be maintained during complementary feeding. Alternatively, infant formulas, which are designed to mimic human breastmilk to promote similar metabolic and growth profiles, can be used.
View Article and Find Full Text PDFBMJ Case Rep
December 2018
Application Lab, R&D Department, Roxall Group, Bilbao, Spain.
We report a 10-year-old patient with haemophilia A developing anaphylaxis to recombinant factor VIII (octocog alfa). Allergic reactions, and especially anaphylactic events, are rare in patients with haemophilia A. The nature of these reactions is not fully understood.
View Article and Find Full Text PDFHum Mutat
October 2018
Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal.
Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the laminin-α2 (LAMA2) gene. MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. Muscle weakness compromises normal motor development, leading to the inability to sit unsupported or to walk independently.
View Article and Find Full Text PDFRev Port Cardiol (Engl Ed)
September 2018
Serviço de Cardiologia Pediátrica, Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
The prevalence of high blood pressure (BP) at pediatric age has increased progressively, one of the causes of which is obesity. However, the dominant etiology in this age group is renal and/or cardiovascular pathology. Ambulatory blood pressure monitoring (ABPM) is the method of choice for the diagnosis of hypertension, especially in children at high cardiovascular risk.
View Article and Find Full Text PDFRev Port Cardiol (Engl Ed)
May 2018
Hospital Pediátrico de Coimbra, Serviço de Cardiologia Pediátrica, Coimbra, Portugal.
Infective endocarditis is a microbial infection of the endocardium and it is rare in the pediatric population. In children, congenital heart disease is one of the most important risk factors for developing infective endocarditis and can involve other structures in addition to cardiac valves. The prognosis is generally better than in other forms of endocarditis, although the average mortality rate in the pediatric population is 15-25%.
View Article and Find Full Text PDFRev Port Cardiol (Engl Ed)
May 2018
Serviço de Cardiologia Pediátrica, Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Arq Gastroenterol
April 2018
Royal Manchester Children's Hospital, Manchester, United Kingdom of Great Britain and Northern Ireland.
Background: Celiac disease is an immune-mediated disorder with a multiform presentation and therefore a challenging diagnosis.
Objective: Our purpose is to identify the epidemiological, clinical, laboratory and histologic characteristics of children with celiac disease at diagnosis and on follow-up.
Methods: Children with previously established or newly diagnosed celiac disease, admitted in a tertiary centre in a two-year period (2014-2016) were recruited.