National experience with adenosine deaminase deficiency related SCID in Polish children

IntroductionDeficiency of adenosine deaminase (ADA) manifests as severe combined immunodeficiency (SCID), caused by accumulation of toxic purine degradation by-products. Untreated patients develop immune and non-immune symptoms with fatal clinical course. According to ESID and EBMT recommendations enzyme replacement therapy (ERT) should be implemented as soon as possible to stabilize the patient’s general condition, normalize transaminases, treat pulmonary proteinosis, bone dysplasia, and protect from neurological damage. Hematopoietic stem cell transplantation (HSCT) from a matched related donor (MRD) is a treatment of choice. In absence of such donor, gene therapy (GT) should be considered. HSCT from a matched unrelated donor (MUD) and haploidentical hematopoietic stem cell transplantation (hHSCT) are associated with worse prognosis.Material and methodsWe retrospectively evaluated the clinical course and results of biochemical, immunological and genetic tests of 7 patients diagnosed in Poland with ADA deficiency since 2010 to 2022.ResultsAll patients demonstrated lymphopenia affecting of T, B and NK cells. Diagnosis was made on the basis of ADA activity in red blood cells and/or genetic testing. Patients manifested with various non-immunological symptoms including: lung proteinosis, skeletal dysplasia, liver dysfunction, atypical hemolytic-uremic syndrome, and psychomotor development disorders. Five patients underwent successful HSCT: 3 patients from matched unrelated donor, 2 from matched sibling donor, and 1 haploidentical from a parental donor. In 4 patients HSCT was preceded by enzyme therapy (lasting from 2 to 5 months). One patient with multiple organ failure died shortly after admission, before the diagnosis was confirmed. None of the patients had undergone gene therapy.ConclusionsIt is important to diagnose ADA SCID as early as possible, before irreversible multi-organ failure occurs. In Poland HSCT are performed according to international immunological societies recommendations, while ERT and GT are less accessible. Implementation of Newborn Screening (NBS) for SCID in Poland could enable recognition of SCID, including ADA-SCID

Hecke structure on Bredon cohomology

We construct a Hecke structure on equivariant Bredon cohomology with local coefficients and then describe some of its properties. We compare this structure with the Mackey structure defined by T. tom Dieck and with the Illman transfer

Influence of Electronic Cigarettes on Antioxidant Capacity and Nucleotide Metabolites in Saliva

The balance between reactive oxygen species production and the activity of antioxidant systems present in saliva is an important element in maintaining oral environment homeostasis. E-cigarettes adversely affect the oral cavity and their cytotoxic effect is related to oxidative stress. The aim of this study was to assess the influence of using electronic cigarettes on antioxidant capacity of saliva. The study involved 110 subjects (35 e-cigarettes users, 33 traditional cigarettes smokers and 42 non-smokers). Laboratory analysis involved quantitation of uric acid, hypoxanthine, xanthine, TAOS (total antioxidant status) and TEAC (Trolox equivalent antioxidant capacity) in saliva. Lower values for TAOS and TEAC were observed among e-cigarettes users and traditional cigarettes smokers in comparison to non-smokers. Uric acid concentration tended to be higher among e-cigarettes users while no differences in hypoxanthine and xanthine saliva concentrations were observed. Electronic cigarettes usage affects antioxidant capacity of saliva to the same extent as traditional cigarettes, when comparing smokers to non-smokers. Further longitudinal studies on a larger study group are needed to assess the effect of changes in antioxidant status on oral health

High pressure impact on changes in potato starch granules

Air dry potato starch (84.9% d.s.) was subjected to pressurizing under the pressure of 50, 100, 250, 500, 750, 1000 and 2000 MPa for 1 h. The physical properties of pressurized starch, such as morphology, surface and crystalline structure, gelatinization parameters, were studied by means of scanning and atomic force microscopy (SEM/AFM), X-ray diffraction (X-ray), differential scanning calorimetry (DSC). The susceptibility to the amylolytic enzyme (α-amylase) was also measured. Application of pressure in the range of 50–2000 MPa results in an increase in the compressed potato starch bulk density, change in the contours of the granules from oval to polyhedral, increase in the roughness of the granule surface, vanishing of the X-ray reflexes generated by the orthogonal structure and weakening of the reflexes generated by the hexagonal structure, lowering of the enthalpy of starch gelatinization, and the enhancement of hydrolytic susceptibility of starch granules to the amylolytic enzyme