Oropharyngeal Carriage of Meningococcus in Portugal by Group and Clonal Complex 6 Years After Adolescent Vaccine Campaign.

Portugal introduced (2+1) conjugate Meningococcal group C vaccine in 2006 with high coverage catch up to 18 years and has given only 1 dose at 1 year since 2012. Among 601 student oropharyngeal swabs, meningococcal carriage rate was 13.3% (A-0%, B-5.

[Obesity: Paradigm of Endothelial Dysfunction in Paediatric Age Groups].

Introduction: Obesity is considered a global epidemic with important public health issues as it is an independent risk factor in the development of cardiovascular disorders.

Material And Methods: Approximately 10% of the worldâÄôs paediatric population has excess weight or obesity and 40% of these will be obese adults. Obesity is characterized by a chronic, low grade, pro-inflammatory process that ultimately results in endothelial dysfunction, the trigger lesion leading to adult cardiovascular disease.

Fish Malodour syndrome in a child.

Body odour can be a manifestation of several metabolic diseases. Diagnosis may be difficult because the disease is often unknown to the doctor. We present a child observed in a general paediatric clinic for bad body odour after eating fish.

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.

Muscular dystrophies (MDs) are a group of hereditary muscle disorders that include two particularly heterogeneous subgroups: limb-girdle MD and congenital MD, linked to 52 different genes (seven common to both subgroups). Massive parallel sequencing technology may avoid the usual stepwise gene-by-gene analysis. We report the whole-exome sequencing (WES) analysis of a patient with childhood-onset progressive MD, also presenting mental retardation and dilated cardiomyopathy.

Case control study of rotavirus vaccine effectiveness in Portugal during 6 years of private market use.

Background: Although recommended by the vaccine committee of the Portuguese Paediatric Society, rotavirus vaccines have not been included in the routine immunization schedule. They have been available privately since 2006 with estimated coverage reaching approximately 30%. However, unlike other European countries using the vaccine, sentinel surveillance has detected fluctuations but no clear trends in the rate of gastrointestinal disease presentations.

R77Q and Q3R HIV1-VPR mutations in an otherwise asymptomatic 5-year-old child with repeated ear infections.

Introduction: Viral protein R (Vpr) of human immunodeficiency virus type 1 (HIV-1) has been described as being involved in the progression of AIDS, and specific mutations are associated with long-term non-progressor patients.

Case Presentation: We describe the case of a child with repeated ear infections who was otherwise healthy. The patient, a 5-year-old boy, was HIV-1 positive and the viral load at admission was 1 073 899 RNA copies ml and 0 % CD4 lymphocytes.

Overdose with antiepileptic drugs: the efficacy of extracorporeal removal techniques.

Drug overdose is a growing problem among adolescents. Clinical severity depends on the drug and ingested amount, which in some cases may be life-threatening. We present a clinical case of a previously healthy teenage girl who ingested 16.

Bowel-associated dermatosis-arthritis syndrome in an adolescent with short bowel syndrome.

Bowel-associated dermatosis-arthritis syndrome (BADAS) is a neutrophilic dermatosis, characterized by the occurrence of arthritis and skin lesions related to bowel disease with or without bowel bypass. We report an unusual case of BADAS in a 15-year-old white male with congenital aganglionosis of the colon and hypoganglionosis of the small intestine and multiple bowel surgeries in childhood complicated by short bowel syndrome. He presented with recurrent peripheral polyarthritis, tenosynovitis, and painful erythematous subcutaneous nodules located on the dorsolateral regions of the legs and on the dorsa of the feet.

[Meningococcal disease admissions in a paediatric intensive care unit].

Introduction: Meningococcal infection has a high mortality and morbidity in children. Aggressive initial shock approach, early referral, secondary transport and vaccination are potential factors with impact in reducing its mortality. Objectives were to characterize children admitted to intensive care due to invasive meningococcal disease, to evaluate their prognostic scores and mortality.

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.

Molecular characterization of patients with Duchenne or Becker muscular dystrophies is essential for establishing a differential diagnosis, allowing appropriate clinical follow-up, patient management and genetic counseling. In light of the recent mutation-based therapeutic approaches, DMD gene analysis has gained further relevance. Owing to the size and complexity of the DMD gene and the diversity of mutation types, molecular analysis is not always a straightforward task requiring the combination of several methodologies.

Pneumococcal vaccine failure: can it be a primary immunodeficiency?

Vaccine failure is a rare condition and the need to investigate a primary immunodeficiency is controversial. We present the case of a 4-year-old boy, with complete antipneumococcal vaccination, who had necrotising pneumonia with pleural effusion and severe pancytopaenia with need for transfusion. A vaccine-serotype Streptococcus pneumoniae was isolated in the blood culture.

IL10 low-frequency variants in Behçet's disease patients.

Aim: To explain the missing heritability after the genome-wide association studies era, sequencing studies allow the identification of low-frequency variants with a stronger effect on disease risk. Common variants in the interleukin 10 gene (IL10) have been consistently associated with Behçet's disease (BD) and the goal of this study is to investigate the role of low-frequency IL10 variants in BD susceptibility.

Methods: To identify IL10 low-frequency variants, a discovery group of 50 Portuguese BD patients were Sanger-sequenced in a 7.

[Antidote use in a pediatric emergency department].

Introduction: Poisoning is an infrequent cause of consultation in a pediatric emergency department (PED), but it can be potentially serious. Pediatricians should know how to use the available antidotes properly.

Objectives: To analyze the use of antidotes in a PED and to assess the suitability of their indications.

Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients.

Background: Congenital muscular dystrophy (CMD) type 1A (MDC1A) is caused by recessive mutations in laminin-α2 (LAMA2) gene. Laminin-211, a heterotrimeric glycoprotein that contains the α2 chain, is crucial for muscle stability establishing a bond between the sarcolemma and the extracellular matrix. More than 215 mutations are listed in the locus specific database (LSDB) for LAMA2 gene (May 2014).

Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.

Background: Autosomal recessive axonal neuropathy with neuromyotonia is a recently described entity associated to the HINT1 gene, encoding histidine triad nucleotide-binding protein 1.

Patient: The authors report a Portuguese 16-year-old girl of Roma ethnicity, descendant of consanguineous parents, with progressive distal muscular atrophy and weakness, beginning at age 6. After several years of extensive investigation with inconclusive results, clinical myotonia was identified.

Mitral valve lipomatous hamartoma: a rare entity.

Lipomatous hamartoma of cardiac valves is a very rare entity, with only three reported cases in children. We describe the case of a 9-year-old girl with a mass in the mitral valve, which was detected in an echocardiogram performed for heart murmur investigation. At surgery, a white round-shaped tumour was removed and histopathological examination revealed a lipomatous hamartoma.

Multiple Streptococcus pneumoniae serotypes in aural discharge samples from children with acute otitis media with spontaneous otorrhea.

Among 55 children with cultures positive for acute otitis media with spontaneous otorrhea, 28 (51%) had cultures positive for aural Streptococcus pneumoniae, and in 10 of these, two distinct strains were detected, in which 5 had pairs of strains that were both capsule-bearing serotypes. Such cases were more likely to have cultures positive for other otopathogens than those with only one pneumococcus present.

A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene.

Fukuyama congenital muscular dystrophy (FCMD) is one of the most common autosomal recessive diseases among the Japanese population, due to a founder mutation of the fukutin gene (FKTN). Mutations in FKTN are now being described in an increasing number of non-Japanese patients. We report a Portuguese child with FCMD.

Relationships between rhinitis symptoms, respiratory viral infections and nasopharyngeal colonization with Streptococcus pneumoniae, Haemophilus influenzae and Staphylococcus aureus in children attending daycare.

Background: Nasal bacterial colonization is often dubbed "asymptomatic." We hypothesized that rhinitis, common in preschool children, is associated with bacterial colonization and that respiratory viruses, which cause rhinitis, interact with bacteria in ways which promote transmission.

Methods: Five hundred eighty-five children (4.

The evolving epidemiology of rotavirus gastroenteritis in central Portugal with modest vaccine coverage.

Background: Rotavirus (RV) vaccines have been available on the private market in Portugal since 2006, with an estimated coverage rising from 16 to 42% between 2007 and 2010.

Objectives: To assess trends, surveillance of children presenting with acute gastroenteritis (AG) to a large paediatric emergency service (ES) in the central region of Portugal was conducted yearly during the winter-spring seasons.

Study Design: Stool samples, collected throughout five epidemic seasons (January-June, 2006 to 2010) from children ≤ 36 months of age attending the ES with AG, were tested for RV by immunochromatographic rapid test and positive samples were genotyped.

[Neonatal mastitis: 12 years of experience].

Introduction And Aims: Mastitis is an inflammation of the breast that may be accompanied by an infectious process. The most frequently isolated bacteria is Staphylococcus aureus. The vast majority of cases are unilateral and have good prognosis.

[Frontal mass: diagnostic challenges].

Capnocytophaga spp. are part of the oral flora of humans and animals, being responsible for skin and soft tissues infections and invasive infections. Microbiological identification can be difficult due to its slow growth.

[Escherichia coli bacteraemia in a pediatric emergency service (1995-2010)].

Background: Some authors reported an increase in relative incidence of E. coli bacteraemia in recent years. E.

[Extended-spectrum β-lactamase producing bacilli in a paediatric hospital].

Background: Enterobacteriaceae are a common cause of invasive disease in children. The production of extended-spectrum ß-lactamase (ESBL) by these bacteria and consequent resistance to several antibiotics has increased. The paediatric data are scarce.