31 research outputs found
Steroidogenic enzyme expression within the adrenal cortex during early human gestation
No full textAberrant adrenocortical function during the first trimester of human fetal development underlies the severe virilization of congenital adrenal hyperplasia due to cytochrome P450 21-hydroxylase (CYP21) deficiency. Although valuable information of human adrenocortical development after 12 weeks gestation is available, less is known earlier in pregnancy. In our studies, the adrenal cortex was first detected in human embryos by hematoxylin and eosin staining at 33 days post-conception (dpc) with distinction between the definitive and fetal zones possible at 52?dpc. Vascular development was apparent within the adrenal gland at 41?dpc. CYP11A and CYP17 were expressed centrally within the fetal zone at 50?dpc and all later time points during the first trimester. Weaker CYP11A immunoreactivity also was visible in the outer region of the adrenal cortex consistent with definitive zone expression. In this location, immunoreactivity was observed for 3?-hydroxysteroid dehydrogenase and the proliferation marker, Ki67. These data raise the possibility of de novo cortisol biosynthesis during the first trimester of human development and are relevant to the pathophysiology of 46,XX virilization in CYP21 deficiency
Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3
No full textWolcott-Rallison syndrome (OMIM 226980) is a rare
autosomal recessive disorder characterised by permanent
insulin requiring diabetes developing in the
newborn period or early infancy, an early tendency to skeletal
fractures, and spondyloepiphyseal dysplasia. The syndrome
results from mutations in the gene encoding the eukaryotic
translation initiation factor 2-a kinase 3 (EIF2AK3, also called
PERK or PEK). This enzyme phosphorylates EIF2A at Ser51
to regulate the synthesis of unfolded proteins in the
endoplasmic reticulum. Targeted disruption of the Eif2ak3
gene in mice also causes diabetes because of the accumulation
of unfolded proteins triggering b cell apoptosis.
Although these murine models have provided significant
insight into the pathogenesis of Wolcott-Rallison syndrome,
only three human cases have been characterised genetically.
Here, we report genetic analysis of two further cases,
and demonstrate new features of the expression pattern of
human EIF2AK3 that offer possible explanations for important
clinical features of the syndrome that are not apparent in
the transgenic mouse models
Beta-cell differentiation during human development does not rely on nestin-positive precursors: implications for stem cell-derived replacement therapy
No full textBeta cell differentiation during early human pancreas development
No full textUnderstanding gene expression profiles during early human pancreas development is limited by comparison to studies in rodents. In this study, from the inception of pancreatic formation, embryonic pancreatic epithelial cells, approximately half of which were proliferative, expressed nuclear PDX1 and cytoplasmic CK19. Later, in the fetal pancreas, insulin was the most abundant hormone detected during the first trimester in largely non-proliferative cells. At sequential stages of early fetal development, as the number of insulin-positive cell clusters increased, the detection of CK19 in these cells diminished. PDX1 remained expressed in fetal beta cells. Vascular structures were present within the loose stroma surrounding pancreatic epithelial cells during embryogenesis. At 10 weeks post-conception (w.p.c.), all clusters containing more than ten insulin-positive cells had developed an intimate relationship with these vessels, compared with the remainder of the developing pancreas. At 12-13 w.p.c., human fetal islets, penetrated by vasculature, contained cells independently immunoreactive for insulin, glucagon, somatostatin and pancreatic polypeptide (PP), coincident with the expression of maturity markers prohormone convertase 1/3 (PC1/3), islet amyloid polypeptide, Chromogranin A and, more weakly, GLUT2. These data support the function of fetal beta cells as true endocrine cells by the end of the first trimester of human pregnancy
Szocio-demográfiai tényezők, okoseszköz-használat és fizikai aktivitás kapcsolata Hajdú-Bihar és Szabolcs-Szatmár-Bereg vármegyében
No full textAz előadás összefoglalója:
A fizikai aktivitás meghatározó tényezője az egészségi állapot megőrzésének, ezáltal a humán tőke fejlesztésének is. (Hafner 2020; Gao 2025) Korábbi kutatások szerint az okoseszközök – különösen a mozgáskövető funkcióval rendelkező eszközök – befolyásolhatják a fizikai aktivitás szintjét. (Tang 2020; Brickwood 2019; Ferguson 2022; Au 2024; Li 2025) Vizsgálatunk célja az okoseszköz-használat, a fizikai aktivitás és a szocio-demográfiai jellemzők kapcsolatának feltárása volt a Debreceni Egyetem Egészségtudományi Karának hallgatói körében.A kérdőíves adatfelvétel (fizikai aktivitásról szóló (International Physical Activity Questionnaire – IPAQ), szocio-demográfiai és okoseszköz-használati kérdések) során 354 válasz érkezett, melyek közül 32,8% Hajdú-Bihar, 35,6% Szabolcs-Szatmár-Bereg vármegyéből származott. Az adatok elemzéséhez Khi-négyzet és Mann–Whitney próbákat alkalmaztunk. A Hajdú-Bihar vármegyei hallgatók szignifikánsan kedvezőbb anyagi helyzetről számoltak be saját megítélésük szerint (p = 0,001, r = 0,21), míg az okoseszköz-birtoklás, a krónikus betegségek, a rendszeres sportolás és az eszközhasználat intenzitása tekintetében nem volt kimutatható szignifikáns különbség.Eredményeink szerint a két vármegye hallgatói között nem mutathatók ki érdemi regionális eltérések sem az okoseszköz-használat, sem a fizikai aktivitás terén. A mozgásösztönzés hatékonyabbá tétele inkább az egyéni attitűdök és motivációk fejlesztésén keresztül valósítható meg.
Kulcsszavak: fizikai aktivitás, okoseszköz, viselhető eszköz, sport
Hivatkozások:
Brickwood Katie-Jane et al. (2019). Consumer-based wearable activity trackers increase physical activity participation: Systematic review and meta-analysis. JMIR mHealth and uHealth, 7(4), e11819. https://mhealth.jmir.org/2019/4/e11819/Ferguson, Ty et al (2022). Effectiveness of wearable activity trackers to increase physical activity and improve health: A systematic review of systematic reviews and meta-analyses. The Lancet Digital Health, 4(8), e615–e626. https://doi.org/10.1016/S2589-7500(22)00111-XGao, Zhendong, et al. (2025). Social capital and physical activity: a literature review up to March 2024. Frontiers in Public Health, 13, 1467571. https://doi.org/10.3389/fpubh.2025.1467571 Hafner, Marco, et al. (2020). Estimating the global economic benefits of physically active populations over 30 years (2020–2050). British Journal of Sports Medicine, 54(24), 1482–1487. https://pmc.ncbi.nlm.nih.gov/articles/PMC7719903/Tang, M. S. Sun, et al. (2020). Effectiveness of wearable trackers on physical activity in healthy adults: Systematic review and meta-analysis of randomized controlled trials. JMIR mHealth and uHealth, 8(7), e15576. https://doi.org/10.2196/15576Li, Ran, et al. (2025). Wearable activity tracker–based interventions for physical activity, body composition, and physical function among community-dwelling older adults: Systematic review and meta-analysis of randomized controlled trials. Journal of Medical Internet Research, 27(1), e59507. https://doi.org/10.2196/59507Au, Whitney, et al. (2024). Effect of wearable activity trackers on physical activity in children and adolescents: A systematic review and meta-analysis. The Lancet Digital Health, 6(9), e625–e639. https://doi.org/10.1016/S2589-7500(24)00139-0
