0000000000760845
AUTHOR
Amparo Escribano-montaner
Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis
BackgroundPulmonary alveolar microlithiasis (PAM) is caused by genetic variants in the SLC34A2 gene, which encodes the sodium-dependent phosphate transport protein 2B (NaPi-2b). PAM is characterised by deposition of calcium phosphate concretions (microliths) in the alveoli leading to pulmonary dysfunction. The variant spectrum of SLC34A2 has not been well investigated and it is not yet known whether a genotype–phenotype correlation exists.MethodsWe collected DNA from 14 patients with PAM and four relatives, and analysed the coding regions of SLC34A2 by direct DNA sequencing. To determine the phenotype characteristics, clinical data were collected and a severity score was created for each va…
Emotional distress in family caregivers of adolescents with bronchial asthma: analysis of its predictors
Adolescents with asthma face problems inherent to this stage in their development, to which the challenges of taking over control of their disease, complying with a daily treatment and regular medical followup are added. Any rejection generated by this may lead to treatment non-adherence and poor asthma control, which brings about problems in family dynamics, made worse by the stress or the emotional distress that this situation causes in caregivers.Identify adjustment profiles and predictors of risk for the well-being of caregivers of pediatric patients with bronchial asthma.Seventy-nine family caregivers of pediatric patients with bronchial asthma. Instruments were used to assess the emot…
Findings and Utility of Chest Computed Tomography in Pediatric Tuberculosis
AbstractThe objectives of this study are to describe the radiologic abnormalities detected on chest computed tomography (CT) of children suffering from tuberculosis and identify in which asymptomatic children, with positive tuberculin skin test and normal chest radiography, CT has the highest diagnostic yield using a low radiation dose protocol. The most common finding on CT in cases of tuberculosis is lymphadenopathy with necrotic appearance. In asymptomatic children with positive tuberculin skin test and normal chest radiography, CT had higher diagnostic yield in children younger than 5 years, modifying the therapeutic approach in a high percentage of cases. Reduction kilovoltage (kV) and…