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Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned out to be a side effect of rickets over-prophylaxis. It was recently discovered that the condition is linked to two genes, CYP24A1 and SLC34A1. The aim of the study was to search for pathogenic variants of the genes in adult persons who were shortlisted in infancy as IIH caused by “hypersensitivity to vit. D”. All persons were found to carry mutations in CYP24A1 or SLC34A1, nine and two persons respectively. The changes were biallelic, with one exception. Incidence of IIH in Polish population estimated on the basis of allele frequency of recurrent p.R396W CYP24A1 variant, is 1:32,465 births. It indicates that at least a thousand homozygotes and compound heterozygotes with risk of IIH live in the country. Differences in mechanism of developing hypercalcemia indicate that its prevention may vary in both IIH defects. Theoretically, vit. D restriction is a first indication for CYP24A1 defect (which disturbs 1,25(OH)2D degradation) and phosphate supplementation for SLC34A1 defect (which impairs renal phosphate transport). In conclusion, we suggest that molecular testing for CYP24A1 and SLC34A1 mutations should be performed in each case of idiopathic hypercalcemia/hypercalciuria, both in children and adults, to determine the proper way for acute treatment and complications prevention.

Graphical summary of 'A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa' by Szczaluba et al..

The aim of the study was an evaluation of carcass slaughter value of fi rst farrowing gilts depending on the number of weaned piglets. The number of born and weaned piglets did not have a negative infl uence on gilt’s slaughter value. Carcasses of fi rst farrowing gilts characterised with a low fatness, large loin eye area and high lean content. Results of ham dissection of first farrowing gilts point high usefulness of this material to long maturing hams production in a view of the fact they have required weight, appropriate lean content and low fatness., Celem badań była ocena wartości rzeźnej loszek jednorazówek w zależności od liczby urodzonych i wykarmionych prosiąt. Wielkość miotu nie miała ujemnego wpływu na wartość rzeźną. Tusze loszek po odchowaniu pierwszego miotu charakteryzowały się odpowiednio niskim otłuszczeniem, dużym okiem polędwicy i wysoką mięsnością. Wyniki szczegółowej dysekcji szynki wskazują na dużą ich przydatność do produkcji szynek długodojrzewających ze względu na odpowiednie proporcje zawartości mięsa i niskiej zawartości tłuszczu.