Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature

The short arm of chromosome 16 (16p) is enriched for segmental duplications, making it susceptible to recurrent, reciprocal rearrangements implicated in the etiology of several phenotypes, including intellectual disability, speech disorders, developmental coordination disorder, autism spectrum disorders, attention deficit hyperactivity disorders, obesity and congenital skeletal disorders. In our clinical study 73 patients were analyzed by chromosomal microarray, and results were confirmed by fluorescence in situ hybridization or polymerase chain reaction. All patients underwent detailed clinical evaluation, with special emphasis on behavioral symptoms. 16p rearrangements were identified in 10 individuals. We found six pathogenic deletions and duplications of the recurrent regions within 16p11.2: one patient had a deletion of the distal 16p11.2 region associated with obesity, while four individuals had duplications, and one patient a deletion of the proximal 16p11.2 region. The other four patients carried 16p variations as second-site genomic alterations, acting as possible modifying genetic factors. We present the phenotypic and genotypic results of our patients and discuss our findings in relation to the available literature.info:eu-repo/semantics/publishedVersio

Vallási elköteleződés vizsgálata a Krisztus Szeretete Egyház hívői között - Vallásszociológiai elemzés

INST: L_11

Antibody and T Cell Responses against SARS-CoV-2 Elicited by the Third Dose of BBIBP-CorV (Sinopharm) and BNT162b2 (Pfizer-BioNTech) Vaccines Using a Homologous or Heterologous Booster Vaccination Strategy

In the present study, antibody and T cell-mediated immune responses elicited by BBIBP-CorV and BNT162b2 vaccines were compared 6 months after the two-dose immunization of healthy individuals. Additionally, antibody and T cell responses after the third dose of BBIBP-CorV or BNT162b2 were compared using a homologous or heterologous vaccination strategy. The third dose was consistently administered 6 months after the second dose. Six months following the two-dose vaccination, the cumulative IFNγ-positive T cell response was almost identical in participants immunized with either two doses of BNT162b2 or BBIBP-CorV vaccines; however, significant differences were revealed regarding humoral immunity: the two-dose BNT162b2 vaccine maintained a significantly higher antireceptor-binding domain (RBD) IgG, anti-spike (S1/S2) IgG, and IgA antibody levels. The BNT162b2 + BNT162b2 + BBIBP-CorV vaccine series elicited significantly lower anti-RBD IgG and anti-S1/S2 IgG levels than three doses of BNT162b2, while the anti-S IgA level was equally negligible in both groups. Importantly, the cumulative IFNγ-positive T cell response was highly similar in both groups. Surprisingly, the BBIBP-CorV + BBIBP-CorV + BNT162b2 vaccination series provided a much higher cumulative IFNγ-positive T cell response than that elicited by three doses of BNT162b2; moreover, the levels of anti-RBD IgG and anti-S IgA were almost identical. Only the mean anti-S1/S2 IgG levels were higher after receiving three mRNA vaccines. Based on these data, we can conclude that administering a third dose of BNT162b2 after two doses of BBIBP-CorV is an effective strategy to significantly enhance both humoral and T cell-mediated immune response, and its effectiveness is comparable to that of three BNT162b2 vaccines

A súlyos akut légzőszervi szindrómát okozó koronavírus-2 elleni immunválasz

A koronavírus-betegség (COVID–19) lefolyása rendkívül sokféle lehet. Az érintettek egy része gyakorlatilag tünet- mentes marad, míg másoknál súlyos, esetenként halálos kimenetelű komplikációk alakulnak ki. Ennek a variabilitás- nak a hátterében – bár kétségtelenül szükség van további kutatásokra is – minden jel szerint az immunrendszer egyes alkotóelemeinek eltérő, néha kifejezetten kóros működése áll. Összefoglalónkban azt szeretnénk bemutatni, hogy milyen kölcsönhatás alakul ki a természetes és az adaptív immunrendszer, valamint a súlyos akut légzőszervi szindró- mát okozó koronavírus-2 (SARS-CoV-2) között az emberi szervezetben. Megvizsgáljuk, hogyan befolyásolja a be- tegség lefolyását az I-es típusú interferonoknak a genetikai hibákra vagy az antiinterferon-autoantitestek jelenlétére visszavezethető elégtelen aktivitása, a myeloid rendszer zavara, a hipergyulladásos állapot kialakulása, a lymphopenia és az adaptív immunrendszer egyénenként eltérő működése. Kitérünk azokra a kulcsfontosságú megfigyelésekre is, amelyek segítettek körvonalazni a SARS-CoV-2-specifikus humorális és sejtközvetített immunmemória legfontosabb jellemzőit