Quality standards for managing children and adolescents with bronchiectasis: an international consensus.

The global burden of bronchiectasis in children and adolescents is being recognised increasingly. However, marked inequity exists between, and within, settings and countries for resources and standards of care afforded to children and adolescents with bronchiectasis compared with those with other chronic lung diseases. The European Respiratory Society (ERS) clinical practice guideline for the management of bronchiectasis in children and adolescents was published recently.

European Respiratory Society statement for defining respiratory exacerbations in children and adolescents with bronchiectasis for clinical trials.

Bronchiectasis is being diagnosed increasingly in children and adolescents. Recurrent respiratory exacerbations are common in children and adolescents with this chronic pulmonary disorder. Respiratory exacerbations are associated with an impaired quality of life, poorer long-term clinical outcomes, and substantial costs to the family and health systems.

CiliarMove: new software for evaluating ciliary beat frequency helps find novel mutations by a Portuguese multidisciplinary team on primary ciliary dyskinesia.

Evaluation of ciliary beat frequency (CBF) performed by high-speed videomicroscopy analysis (HVMA) is one of the techniques required for the correct diagnosis of primary ciliary dyskinesia (PCD). Currently, due to lack of open-source software, this technique is widely performed by visually counting the ciliary beatings per a given time-window. Our aim was to generate open-source, fast and intuitive software for evaluating CBF, validated in Portuguese PCD patients and healthy volunteers.

Primary ciliary dyskinesia due to CCNO mutations-A genotype-phenotype correlation contribution.

Primary ciliary dyskinesia (PCD) is genetically and clinically heterogeneous. CCNO mutations are associated with chronic destructive lung disease and were first described in 2014. Early reports suggest that CCNO is mutated more frequently than expected, however, these are considered rare.

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.

Background: Primary ciliary dyskinesia (PCD), a genetically heterogeneous condition enriched in some consanguineous populations, results from recessive mutations affecting cilia biogenesis and motility. Currently, diagnosis requires multiple expert tests.

Methods: The diagnostic utility of multigene panel next-generation sequencing (NGS) was evaluated in 161 unrelated families from multiple population ancestries.

Pulmonary exacerbations in patients with primary ciliary dyskinesia: an expert consensus definition for use in clinical trials.

Pulmonary exacerbations are a cause of significant morbidity in patients with primary ciliary dyskinesia (PCD) and are frequently used as an outcome measure in clinical research into chronic lung diseases. So far, there has been no consensus on the definition of pulmonary exacerbations in PCD. 30 multidisciplinary experts and patients developed a consensus definition for children and adults with PCD.

Short-term relevance of lower respiratory viral coinfection in inpatients under 2 years of age.

Introduction: Advances in molecular diagnosis have made it possible to detect previously unknown viral agents as causative agents of lower respiratory tract infections (LRTI). The frequency and relevance of viral coinfections is still debatable.

Objective: Compare clinical presentation and severity between single virus infection and viral coinfection in children admitted for LRTI.

[Short-term relevance of lower respiratory viral coinfection in inpatients under 2 years of age].

Introduction: Advances in molecular diagnosis have made it possible to detect previously unknown viral agents as causative agents of lower respiratory tract infections (LRTI). The frequency and relevance of viral coinfections is still debatable.

Objective: compare clinical presentation and severity between single virus infection and viral coinfection in children admitted for LRTI.

Acute viral bronchiolitis: Physician perspectives on definition and clinically important outcomes.

Background: Two key limitations hamper intervention research in bronchiolitis: the absence of a clear definition of disease, and the heterogeneous choice of outcome measures in current clinical trials. We assessed how paediatricians and general practitioners (GPs) perceived definition and clinically important outcomes in bronchiolitis.

Methods: A nationwide online survey (ABBA study) was conducted through the Portuguese Society of Paediatrics and GPs' mailing lists.

[Growth and puberty in type 1 diabetes mellitus - experience from a pediatric endocrinology unit].

Background: Type 1 Diabetes Mellitus (T1DM) is the most common endocrine-metabolic disease in children. It is associated with vascular and neuropathic complications, and may also affect growth and development.

Objective: To correlate the metabolic control and disease duration with growth and puberty in patients with T1DM followed in a Pediatric Endocrinology Outpatient Clinic.

[Bacille Calmette-Guérin adenitis: diagnostic and therapeutic guidelines].

Bacille Calmette-Guérin (BCG) vaccination is occasionally associated with lymphadenitis, called BCGitis, and only rarely can it occur in the setting of immunodeficiency. We report six cases of BCGitis admitted to our hospital (2005-7) for surgical treatment: five were male, in all cases BCG was given at birth; median age at presentation was 5.5 months.

Respiratory disease screening in school-aged children using portable spirometry.

Objectives: To assess the prevalence of respiratory disease in school-aged children and to determine the value of field spirometry.

Methods: Data on 313 1st and 4th graders from four public schools in Lisbon were analyzed. A respiratory self-answered questionnaire and standard spirometry were performed.

[Multi-drug-resistant tuberculosis in a Department of Infectious Diseases].

In Western Europe, Portugal has the highest incidence of tuberculosis (TB) as well as HIV infection. At the Department of Infectious Diseases, Hospital de Santa Maria, Lisbon, we have observed a steady increase in cases of drug resistant (DR) and multi-drug resistant (MDR) TB over the last few years. To identify the determinants of drug- resistant tuberculosis, clinical notes from all patients admitted to the Department of Infectious Diseases from 1995 to 2000, with DR- or MDR-TB were retrospectively reviewed.