False negatives in the newborn screening for cystic fibrosis in Western Andalusia: Results from a 10-year experience.

Cystic fibrosis (CF) is the most common autosomal recessive disorder in the Caucasian population, with an incidence of 1:5000 live births. In 2011, the screening of CF was implemented in the Andalusian Public Health newborn screening program by using immunoreactive trypsinogen and chloride sweat test (IRT/IRT/sweat test) determinations. Since then, 79 children have been diagnosed with CF in our health area (Western Andalusia).

[Results of the neonatal screening on Western Andalusia after a decade of experience.].

Objective: The main justification of this study was to describe our experience in neonatal screening and to define the prevalence of the diseases included in the neonatal screening program in Andalusia, among which are congenital hypothyroidism, expanded screening (aminoacidopathies, mitochondrial beta-oxidation defects and organic acidurias), cystic fibrosis, and screening for sickle cell anemia.

Methods: The study was carried out in the Metabolopathies Unit of the Virgen del Rocío Hospital in Seville with samples of newborns from Western Andalusia (Cádiz, Córdoba, Huelva and Seville) and autonomous city of Ceuta. A total of 435,141 newborns were studied (from the period from April 1st 2009 to December 31st 2019) to rule out congenital hypothyroidism and expanded screening; 378,306 for cystic fibrosis from May 1st 2011 to the same date described above.

Results of the Andalusian Cystic Fibrosis Neonatal Screening Program, 5 Years After Implementation.

Introduction: Cystic fibrosis neonatal screening (CFNS), based on double determination of immunoreactive trypsinogen ([IRT] [IRT1/IRT2]), has been available in Andalusia since May 2011. If screening is positive, a sweat test is performed, and if that is positive or inconclusive, genetic testing is requested.

Objective: To analyze CFNS, based on results from the first 4.

[Assessment with the Epworth scale of daytime somnolence in patients with suspected obstructive apnea syndrome during sleep. Differences between patients and their partners].

Unlabelled: Daytime sleepiness is an important symptom in obstructive sleep apnea syndrome. The Epworth sleepiness scale gives a subjective estimate of the level of sleepiness by asking the patient to estimate the probability of falling asleep during each of eight activities of daily living.

Objective: We aimed to see whether patients suspected of sleep apnea and their partners or other living companions assessed daytime sleepiness differently.