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Introduction: hypophosphatasia (HPP) is a congenital disease, characterized by a defect in bone and dentary mineralization, secondary to a deficiency in the biosynthesis of non-specific tissue isoenzyme of alkaline phosphatase (TNSALP), resulting in decreased levels of alkaline phosphatase (ALP) activity and the extracellular accumulation of its substrates. Our goal was to establish the interest of screening the hospital databases of pediatric patients with low levels of ALP for the diagnosis of HPP. Materials and methods: during the period from September 2016 to September 2017, 23231 patients were tested for ALP, 1752 of them showed low levels of ALP. Based on the clinic, basal disease and that in previous analyses they did not present ALT norm values, 14 cases were selected: 8 cases associated with early puberty, 1 case of low size, 1 case of liver disease and myasthenia and 1 case of teething problems. ALPL gene was studied in those cases. Results: the latter case was of an 8-year-old male with a pathological variant of HPP: c.343_348dupACCGCC (p.Thr115_Ala116dup) in exon 5 in dominant heterozygous, inherited from his mother. At the substrate level the levels of pyridoxal-5-phosphate were above 50μg/L. Conclusion: the diagnostic strategy with a high index of clinical suspicion of HPP should include the observation of low levels of serum ALP activity. Our study shows that HPP is an underdiagnosed disease.An appropriate protocol to detect HPP in a clinical setting in tertiary care hospitals is required.

Contains fulltext : 229521.pdf (Publisher’s version ) (Closed access) Quantitative estimates for the global impact of COVID-19 on the diagnosis and management of patients with inborn errors of metabolism (IEM) are lacking. We collected relevant data from 16 specialized medical centers treating IEM patients in Europe, Asia and Africa. The median decline of reported IEM related services in March 1st-May 31st 2020 compared to the same period in 2019 were as high as 60-80% with a profound impact on patient management and care for this vulnerable patient group. More representative data along with outcome data and guidelines for managing IEM disorders under such extraordinary circumstances are needed.

La presencia adquirida pels temples a Barcelona a partir de la Contrareforma tingue un paper rellevant en la configuracio i l’abast del sentiment religios public a la ciutat, fins al punt que, durant la Guerra del Frances, la seva faceta social, a mes de liturgica, i el seu potencial economic, esdevingueren aspectes primordials per al govern ocupacionista. A traves de diverses accions empreses com a instruments de poder de caracter politic, les autoritats franceses detractaren l’ordre social establert, alienaren els recursos de l’Esglesia i utilitzaren els seus simbols materials i immaterials per consolidar la seva dominacio, cosa que incidi profundament en l’entramat urba i en l’avenir del seu patrimoni artistic.