Search Results

You are looking at 1 - 3 of 3 items for :

  • Abstract: Arteries x
  • Abstract: Atherosclerosis x
  • Abstract: Carotid x
  • Abstract: Ghrelin x
  • Abstract: Stroke x
  • Abstract: Heart x
  • Abstract: cardiac* x
  • Reproduction x
Clear All Modify Search
Kimberly Kuiper Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands
Leiden Institute for Brain and Cognition, Leiden, The Netherlands

Search for other papers by Kimberly Kuiper in
Google Scholar
PubMed
Close
,
Hanna Swaab Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands
Leiden Institute for Brain and Cognition, Leiden, The Netherlands

Search for other papers by Hanna Swaab in
Google Scholar
PubMed
Close
,
Nicole Tartaglia eXtraordinarY Kids Clinic, Developmental Pediatrics, Children’s Hospital Colorado, Aurora, Colorado
Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado

Search for other papers by Nicole Tartaglia in
Google Scholar
PubMed
Close
, and
Sophie van Rijn Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands
Leiden Institute for Brain and Cognition, Leiden, The Netherlands

Search for other papers by Sophie van Rijn in
Google Scholar
PubMed
Close

The presence of an additional X or Y chromosome (sex chromosome trisomies, SCT) is associated with an increased risk for neurodevelopmental difficulties, including socio-emotional problems, across the life span. Studying emotion regulation in young children with SCT could signal deviations in emotional development that serve as risk markers to guide clinical care. This study explored the presence and variety of emotion regulation strategies in 75 SCT children and 81 population-based controls, aged 1–7 years, during a frustration-inducing event in which physiological (heart rate) and observational data (behavioral responses) were collected. Children with SCT were equally physiologically aroused by the event as compared to controls. However, they showed more emotion regulation difficulties in terms of behavior compared to controls that were not explicable in terms of differences in general intellectual functioning. Specifically, they had a more limited range of behavioral alternatives and tended to rely longer on inefficient strategies with increasing age. The field of practice should be made aware of these early risk findings regarding emotion regulation in SCT, which may potentially lay the foundation for later socio-emotional problems, given the significant impact of emotion regulation on child and adult mental health outcomes. The current results may help to design tailored interventions to reduce the impact of the additional sex chromosome on adaptive functioning, psychopathology, and quality of life.

Open access
Veronica Astro Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia

Search for other papers by Veronica Astro in
Google Scholar
PubMed
Close
,
Elisabetta Fiacco Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia

Search for other papers by Elisabetta Fiacco in
Google Scholar
PubMed
Close
,
Kelly Johanna Cardona-Londoño Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia

Search for other papers by Kelly Johanna Cardona-Londoño in
Google Scholar
PubMed
Close
,
Ilario De Toma Sequentia Biotech SL, Barcelona, Spain

Search for other papers by Ilario De Toma in
Google Scholar
PubMed
Close
,
Hams Saeed Alzahrani Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

Search for other papers by Hams Saeed Alzahrani in
Google Scholar
PubMed
Close
,
Jumana Alama Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia

Search for other papers by Jumana Alama in
Google Scholar
PubMed
Close
,
Amal Kokandi Department of Dermatology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

Search for other papers by Amal Kokandi in
Google Scholar
PubMed
Close
,
Taha Abo-Almagd Abdel-Meguid Hamoda Department of Urology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

Search for other papers by Taha Abo-Almagd Abdel-Meguid Hamoda in
Google Scholar
PubMed
Close
,
Majed Felemban Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia
Center of Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

Search for other papers by Majed Felemban in
Google Scholar
PubMed
Close
, and
Antonio Adamo Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia

Search for other papers by Antonio Adamo in
Google Scholar
PubMed
Close

Objective

The transcriptional landscape of Klinefelter syndromeduring early embryogenesis remains elusive. This study aimed to evaluate the impact of X chromosome overdosage in 47,XXY males induced pluripotent stem cells (iPSCs) obtained from patients with different genomic backgrounds and ethnicities.

Design and method

We derived and characterized 15 iPSC lines from four Saudi 47,XXY KS patients and one Saudi 46,XY male. We performed a comparative transcriptional analysis using the Saudi KS-iPSCs and a cohort of European and North American KS-iPSCs.

Results

We identified a panel of X-linked and autosomal genes commonly dysregulated in Saudi and European/North American KS-iPSCs vs 46,XY controls. Our findings demonstrate that seven PAR1 and nine non-PAR escape genes are consistently dysregulated and mostly display comparable transcriptional levels in both groups. Finally, we focused on genes commonly dysregulated in both iPSC cohorts and identified several gene-ontology categories highly relevant to KS physiopathology, including aberrant cardiac muscle contractility, skeletal muscle defects, abnormal synaptic transmission, and behavioral alterations.

Conclusions

Our results indicate that a transcriptomic signature of X chromosome overdosage in KS is potentially attributable to a subset of X-linked genes sensitive to sex chromosome dosage and escaping X inactivation, regardless of the geographical area of origin, ethnicity, and genetic makeup.

Open access
Charissa van Zwol-Janssens Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus University Medical Center, Rotterdam, the Netherlands

Search for other papers by Charissa van Zwol-Janssens in
Google Scholar
PubMed
Close
,
Aglaia Hage Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus University Medical Center, Rotterdam, the Netherlands

Search for other papers by Aglaia Hage in
Google Scholar
PubMed
Close
,
Kim van der Ham Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus University Medical Center, Rotterdam, the Netherlands

Search for other papers by Kim van der Ham in
Google Scholar
PubMed
Close
,
Birgitta K Velthuis Department of Radiology, University Medical Center Utrecht, University of Utrecht, Utrecht, the Netherlands

Search for other papers by Birgitta K Velthuis in
Google Scholar
PubMed
Close
,
Ricardo P J Budde Department of Radiology and Nuclear Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands

Search for other papers by Ricardo P J Budde in
Google Scholar
PubMed
Close
,
Maria P H Koster Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus University Medical Center, Rotterdam, the Netherlands

Search for other papers by Maria P H Koster in
Google Scholar
PubMed
Close
,
Arie Franx Department of Obstetrics and Gynaecology, Erasmus University Medical Center, Rotterdam, the Netherlands

Search for other papers by Arie Franx in
Google Scholar
PubMed
Close
,
Bart C J M Fauser Department of Reproductive Medicine and Gynaecology, University Medical Center Utrecht & University of Utrecht, Utrecht, the Netherlands

Search for other papers by Bart C J M Fauser in
Google Scholar
PubMed
Close
,
Eric Boersma Department of Cardiology, Erasmus University Medical Center, Rotterdam, the Netherlands

Search for other papers by Eric Boersma in
Google Scholar
PubMed
Close
,
Daniel Bos Department of Radiology and Nuclear Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands
Department of Epidemiology, Erasmus University Medical Center, Rotterdam, the Netherlands

Search for other papers by Daniel Bos in
Google Scholar
PubMed
Close
,
Joop S E Laven Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus University Medical Center, Rotterdam, the Netherlands

Search for other papers by Joop S E Laven in
Google Scholar
PubMed
Close
,
Yvonne V Louwers Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus University Medical Center, Rotterdam, the Netherlands

Search for other papers by Yvonne V Louwers in
Google Scholar
PubMed
Close
, and
the CREW consortium
Search for other papers by the CREW consortium in
Google Scholar
PubMed
Close
the CREW consortium

Besides age, estrogen exposure plays a crucial role in changes in bone density (BD) in women. Premature ovarian insufficiency (POI) and polycystic ovary syndrome (PCOS) are conditions in reproductive-aged women in which the exposure to estrogen is substantially different. Women with a history of preeclampsia (PE) are expected to have normal estrogen exposure. Within the CREw-IMAGO study, we investigated if trabecular BD is different in these women because of differences in the duration of estrogen exposure. Trabecular BD was measured in thoracic vertebrae on coronary CT scans. Women with a reduced estrogen exposure (POI) have a lower BD compared to women with an intermediate exposure (PE) (mean difference (MD) −26.8, 95% CI −37.2 to −16.3). Women with a prolonged estrogen exposure (PCOS) have the highest BD (MD 15.0, 95% CI 4.3–25.7). These results support the hypothesis that the duration of estrogen exposure in these women is associated with trabecular BD.

Significance statement

Our results suggest that middle-aged women with PCOS have a higher BD and women with POI have a lower BD. We hypothesized that this is due to either a prolonged estrogen exposure, as seen in women with PCOS, or a reduced estrogen exposure, as in women with POI. In the counseling of women with reproductive disorders on long-term health issues, coronary CT provides a unique opportunity to assess both coronary artery calcium score for cardiovascular screening as well as trabecular BD.

Open access