Clinical relevance of Scedosporium spp. and Exophiala dermatitidis in patients with cystic fibrosis: A nationwide study.

An increased prevalence of various filamentous fungi in sputum samples of patients with cystic fibrosis (CF) has been reported. The clinical significance, however, is mostly unclear. The aim of this study was to investigate the clinical relevance of Scedosporium spp.

The potential of a portable, point-of-care electronic nose to diagnose tuberculosis.

Introduction: Tuberculosis (TB) is the leading cause of death due to an infectious disease worldwide. Especially in low-income countries, new diagnostic techniques that are accessible, inexpensive and easy-to-use, are needed to shorten transmission time and initiate treatment earlier.

Objective: We conducted a study with a handheld, point-of-care electronic nose (eNose) device to diagnose TB through exhaled breath.

Clinical evaluation of the Nanoduct sweat test system in the diagnosis of cystic fibrosis after newborn screening.

Unlabelled: After a positive newborn screening test for cystic fibrosis (CF), a sweat test is performed to confirm the diagnosis. The success rate of the generally acknowledged methods (Macroduct/Gibson and Cooke) in newborns varies between 73 and 99%. The Nanoduct sweat test system is easier to perform and less sweat is needed.

Multi-azole-resistant Aspergillus fumigatus in the environment in Tanzania.

Objectives: Azole resistance in Aspergillus fumigatus isolates has been increasingly reported with variable prevalence worldwide and is challenging the effective management of aspergillosis. Here we report the coexistence of both TR₃₄/L98H and TR₄₆/Y121F/T289A resistance mechanisms in azole-resistant A. fumigatus (ARAF) isolates originating from Tanzania, Africa.

Molecular characterization of Cryptococcus gattii genotype AFLP6/VGII isolated from woody debris of divi-divi (Caesalpinia coriaria), Bonaire, Dutch Caribbean.

Background: The basidiomycetous yeast Cryptococcus gattii is an emerging and primary pathogen. There is a lack of information about its environmental spread outside outbreak regions in Mediterranean Europe, North and South America. Environmental sampling for C.

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

Background: Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by polydactyly, and renal, liver and retinal disease. Mutations in intraflagellar transport (IFT) genes cause JATD, including the IFT dynein-2 motor subunit gene DYNC2H1. Genetic heterogeneity and the large DYNC2H1 gene size have hindered JATD genetic diagnosis.

How about your peers? Cystic fibrosis questionnaire data from healthy children and adolescents.

Background: The Cystic Fibrosis Questionnaire (CFQ) is widely used in research as an instrument to measure quality of life in patients with cystic fibrosis (CF). In routine patient care however, measuring quality of life is still not implemented in guidelines. One of the reasons might be the lack of consensus on how to interpret CFQ scores of an individual patient, because appropriate reference data are lacking.

[Adrenal cortex insufficiency in children due to inhaled corticosteroids].

A 3-year-old boy was treated for asthmatic symptoms with fluticasone inhalations. Due to a flattening growth curve Cushing's syndrome was suspected and the dosage of fluticasone was gradually decreased after which the boy became less active and his appetite decreased. Another patient, a 7-year-old boy with asthma was also treated with fluticasone inhalations.

Structural lung changes, lung function, and non-invasive inflammatory markers in cystic fibrosis.

Cystic fibrosis (CF) lung disease is characterized by chronic airway inflammation and recurrent infections, resulting in (ir)reversible structural lung changes and a progressive decline in lung function. The objective of this study was to investigate the relationship between non-invasive inflammatory markers (IM) in exhaled breath condensate (EBC), lung function indices and structural lung changes, visualized by high resolution computed tomography (HRCT) scans in CF. In 34 CF patients, lung function indices (forced expiratory volume in 1 s, forced vital capacity [FVC], residual volume, and total lung capacity [TLC]) and non-invasive IM (exhaled nitric oxide, and condensate acidity, nitrate, nitrite, 8-isoprostane, hydrogen peroxide, interferon-gamma) were assessed.

Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.

Jeune syndrome (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable limb shortness with a considerable neonatal mortality as a result of respiratory distress. Renal, hepatic, pancreatic and ocular complications may occur later in life. We describe 13 cases with ages ranging from 9 months to 22 years.

[A child with an oesophageal foreign body for 1.5 years].

A 2-year-old boy presented with a 1.5-year history of recurrent cough, wheeze and feeding problems. An x-ray of the thorax and an oesophagogram showed constriction of the trachea and proximal portion of the oesophagus.

Biomarkers in exhaled breath condensate indicate presence and severity of cystic fibrosis in children.

Chronic airway inflammation is present in cystic fibrosis (CF). Non-invasive inflammometry may be useful in disease management. The aim of the present cross-sectional study was to investigate: (i) the ability of fractional exhaled nitric oxide and inflammatory markers (IM) [exhaled breath condensate (EBC) acidity, nitrite, nitrate, hydrogen peroxide (H(2)O(2)), 8-isoprostane, Th1/Th2 cytokines] to indicate (exacerbations of) CF; and (ii) the ability of these non-invasive IM to indicate CF disease severity.

Neuromuscular abnormalities in ataxia telangiectasia: a clinical, electrophysiological and muscle ultrasound study.

Thirteen classical ataxia telangiectasia (A-T) patients, varying in age from 1 to 25 years, were studied clinically, electrophysiologically as well as by muscle ultrasound to chart the development and spectrum of neuromuscular abnormalities in A-T. The most prominent finding was a progressive axonal sensorimotor polyneuropathy, apparent by electromyography and muscle ultrasound from the age of 8 years and becoming clinically discernible around 12 years of age. Before the age of 8 years decreased tendon reflexes and slightly slowed sensory nerve conduction velocities could already be observed.

Broncholithiasis in an immune compromised boy with disseminated Mycobacterium kansasii.

A case of broncholithiasis in a child is reported. To our knowledge, it has not been reported in children. Broncholithiasis is a condition in which a peribronchial calcified lymph node erodes into or distorts an adjacent bronchus.

Clinical aspects of type 1 posterior laryngeal clefts: literature review and a report of 31 patients.

Objectives: The clinical relevance of posterior laryngeal clefts (PLCs) of type 1 has only recently been highlighted in the medical literature. We present a review of the literature and a report of a contributive series of 31 type 1 PLC patients.

Study Design And Methods: We performed a MEDLINE search of studies published between 1966 and September 2005 and a retrospective cohort study in children aged 0 to 16 years.

Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.

Unlabelled: A 23-year-old man was diagnosed with pulmonary alveolar proteinosis at the age of 11 months, and primary hypothyroidism gradually developed during infancy. He had delayed developmental milestones and severe hypotonia that evolved into non-progressive chorea during childhood. He died from large cell lung carcinoma at the age of 23 years.

[Two newborns with both small-bowel atresia and cystic fibrosis].

Two newborn girls presented with congenital small-bowel atresia; in one case a high intestinal obstruction had been demonstrated by prenatal echography, while in the other case there were feeding problems and a failure to produce meconium. In both infants, the postoperative period was complicated by feeding problems, malabsorption and insufficient growth. Cystic fibrosis (CF) was then diagnosed in both patients.

Nosocomial Mycobacterium bovis-bacille Calmette-Guérin infections due to contamination of chemotherapeutics: case finding and route of transmission.

We studied nosocomial infections due to Mycobacterium bovis bacille Calmette-Guérin (BCG) Onco-TICE bacteria, transmitted by contamination of medication prepared in BCG Onco-TICE-contaminated hoods in the pharmacy, in 5 immunocompromised patients at 3 hospitals. The BCG strains cultured from the patients had the same DNA profile as the BCG Onco-TICE strain used for bladder instillation. To prevent these infections, a change from open to closed preparation was made; strictly separated preparation in time of BCG Onco-TICE instillation and chemotherapy was enforced, the biological safety cabinet was disinfected between preparations, and gloves were changed between preparations.

Successful treatment with voriconazole of invasive aspergillosis in chronic granulomatous disease.

A 5-year-old boy with chronic granulomatous disease (CGD) was treated with amphotericin B for an invasive pulmonary Aspergillus nidulans infection. The infection progressed during 6 wk of treatment despite the addition of interferon-gamma (IFN-gamma), filgrastim, and transfusions with donor granulocytes. Treatment with a novel antifungal triazole, voriconazole, resulted in an excellent clinical response.