Neonatal Screening for Sickle Cell Disease in Western Andalusia: Results and Lessons Learnt after 3 Years of Implementation.

Objective: The aim of this study was to present the results obtained in the Newborn Screening Program (NSP) for sickle cell disease (SCD) in western Andalusia and the autonomous city of Ceuta in the first 3 years of implementation, and to describe the discrepancies found in the diagnosis of hemoglobinopathies between the screening method and the confirmatory tests.

Study Design: A descriptive and retrospective study was carried out, and the findings obtained in the newborns included in the NSP between November 2018 and December 2021 were analyzed.

Results: A total of 111,205 samples were screened by high-performance liquid chromatography (HPLC).

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).

Evaluation of the Congenital Hypothyroidism Detection Strategy in Extremely Preterm Infants in Western Andalusia.

Objective: This study aimed to identify extremely premature infants (< 31 weeks of gestation and/or <1,500 g) affected by congenital hypothyroidism (CH) with delayed elevation of thyrotropin (TSH) and to evaluate the detection strategy for this pathology in our reference screening population.

Study Design: A descriptive and retrospective study was carried out with samples collected from western Andalusia and the autonomous city of Ceuta.

Results: This protocol allowed us to detect six neonates with delayed TSH elevation.

Evaluation of bone metabolism in children with cystic fibrosis.

Background: Cystic fibrosis (CF) bone disease (CFBD) has attracted considerable recent interest from researchers, although several aspects of CFBD pathophysiology remain poorly understood. The objective of this research was to investigate CFBD in children with CF and its relation to clinical and bone metabolism markers.

Methods: In a prospective observational study of 68 patients with CF and 63 healthy controls, we studied bone turnover biomarkers and bone mineral density (BMD).

[Beginnings, evolution and current situation of the Newborn Screening Programs in Spain.].

Newborn Screening Programs (NSP) in Spain were born in the city of Granada in 1968. Till the 1980s, they were developed around the so-called "National Plan for Preventing Subnormality", covering up to 30% of the Spanish newborns. From 1982, when the health system management was transferred to the different autonomous regions, the NSP began to expand, and the bases to transform them into an organized and multidisciplinary activity, integrated and coordinated from the National Health System were settled.

[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.

Newborn screening for homocystinurias: Recent recommendations versus current practice.

Purpose: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations.

Methods: Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, n = 28), combined remethylation disorder (cRMD, n = 56) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate reductase deficiency (MTHFRD) (n = 8).

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.

Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville.

Background: Early diagnosis of primary immunodeficiency such as severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) improves outcome of affected children. T-cell-receptor-excision circles (TRECs) and kappa-deleting-recombination-excision circles (KRECs) determination from dried blood spots (DBS) identify neonates with severe T- and/or B-lymphopenia. No prospective data exist of the impact of gestational age (GA) and birth weight (BW) on TRECs and KRECs values.

[Combined methylmalonic acidemia and homocystinuria; a case report].

Combined methylmalonic acidemia and homocystinuria is an inborn error of metabolism of vitamin B12 or cobalamin. It's a rare autosomal recessive disease in which there are several variants depending on the pathogenesis of the metabolic disorder (cblC, cblD, cblF and cblJ). The more frequent and more severe is the cblC variant, which usually manifests in the first months of life, although some cases have been reported at the beginning of adulthood.

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.

Background: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited defect in the mitochondrial fatty acid oxidation pathway, resulting in significant morbidity and mortality in undiagnosed patients.Newborn screening (NBS) has considerably improved MCADD outcome, but the risk of complication remains in some patients. The aim of this study was to evaluate the relationship between genotype, biochemical parameters and clinical data at diagnosis and during follow-up, in order to optimize monitoring of these patients.

Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.

The aim of this study was to identify the most common genotypes in the phenylketonuria (PKU) population of Andalusia, assessing the correlation with the phenotype and the usefulness in predicting the response to treatment with tetrahydrobiopterin. We conducted a retrospective observational study between January 1980 and January 2010 in 147 Andalusian PKU patients assessing phenotype, genotype and response to a 24-h BH4 loading test. Our cohort of patients exhibited 65 different mutations, 69.

[Treatment indication with endothoracic drainage tube in parapneumonic effusions by partial pressure of carbon dioxide measurement in pleural fluid].

Background And Objective: Parapneumonic effusions with pH < 7.20 or glucose < 0.40 g/l or lactate dehydrogenase (LDH) > 1000 U/l have indication of treatment with endothoracic drainage tube (EDT).

[The high-sensitivity C-reactive protein level one month after bare-metal coronary stenting may predict late adverse events].

The significance of the high-sensitivity C-reactive protein (hs-CRP) level in percutaneous coronary interventions (PCIs) is unclear. Troponin-T and hs-CRP levels were measured before PCI, after stenting, and 8 h, 24 h, and 30 days after the procedure in 68 consecutive patients who received bare-metal stents. The study endpoints were death, nonfatal myocardial infarction, and the need for revascularization.