Article
Genetics & Heredity
Courtney L. Scherr, Kerstin Kalke, Sanjana Ramesh, Hoda Fakhari, Lisa M. Dellefave-Castillo, Maureen E. Smith, Callie Kalny, Elizabeth M. McNally, Laura J. Rasmussen-Torvik
Summary: Recent advances in genetics can assist in identifying at-risk individuals and diagnosing cardiovascular disorders, but further research is needed for optimizing its clinical practice in the field of cardiovascular genetics. Barrier factors such as organizational systems, cost, and lack of preparedness were identified, and the rapid pace of genetic science posed challenges in maintaining adequate knowledge base. The importance of genetics experts was highlighted, and there was a desire for more understanding of patient selection for genetic testing and management recommendations.
GENETICS IN MEDICINE
(2022)
Review
Cardiac & Cardiovascular Systems
Allen C. Huang, Susan B. Olson, Cheryl L. Maslen
Summary: Turner syndrome is a rare disorder caused by complete or partial loss of the second sex chromosome, resulting in delayed growth, premature ovarian failure, and cardiovascular abnormalities. Recent advancements in genetics and epigenetics research have shed light on the variability of symptoms.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2021)
Article
Endocrinology & Metabolism
Baryab Zahra, Aparna Sastry, Marie Freel, Malcolm Donaldson, Avril Mason
Summary: This article examines the success of the transition service for Turner Syndrome (TS) and the follow-up and health monitoring after transfer to adult endocrine services. It found that a significant number of female patients lost follow-up after transfer and may not receive adequate hormone replacement therapy and cardiovascular monitoring. Therefore, improvements in the transition service are needed to meet the long-term needs and hormone replacement therapy of patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Hannah Glatzel, Faith Njue, Helen E. Turner, Elizabeth Orchard
Summary: This study aims to develop a pathway for monitoring Turner syndrome patients, especially those at higher risk of aortic dissection, based on international guidelines. The risk-stratified pathway effectively consolidated resources and allowed for the prioritization of high-risk patients.
CLINICAL ENDOCRINOLOGY
(2023)
Article
Medicine, General & Internal
Kee Chee Cheong, Kuang Hock Lim, Sumarni Mohd Ghazali, Chien Huey Teh, Yong Kang Cheah, Azli Baharudin, Hui Li Lim, Abdul Muneer Abdul Hamid, Feisul Idzwan Mustapha, Mohd Azahadi Omar
Summary: This study found that metabolic syndrome is associated with an increased risk of cardiovascular disease mortality and all-cause mortality. This association remained significant even after excluding mortalities in the first 2 years.
Article
Medicine, General & Internal
Aysha Almas, Safia Awan, Gerald Bloomfield, Muhammad Imran Nisar, Sameen Siddiqi, Asma Ahmed, Asad Ali, Saad Hameed Shafqat, Zulfiqar Ahmed Bhutta, Daniel Benjamin Mark, Pamela Douglas, John Bartlett, Tazeen H. Jafar, Zainab Samad
Summary: This study analyzed the NCD research and training at Aga Khan University in Pakistan using a qualitative approach. The findings suggest that high-quality research training programs for NCDs are rare and there is a need to establish programs with protected time, career guidance, and mentorship to improve research capacity in Pakistan.
Article
Endocrinology & Metabolism
Naincy Purwar, Pradeep Tiwari, Nitish Mathur, Himanshu Sharma, Rahul Sahlot, Umesh Garg, Balram Sharma, Aditya Saxena, Sandeep K. Mathur
Summary: This study used chromosomal microarray to elucidate high-resolution chromosomal patterns and analyze genotype-phenotype associations in girls with the clinical phenotype of Turner syndrome (TS). The results showed that copy number variations (CNVs) on autosomes were more common than on the X chromosome, with CNVs detected on chromosome 14 and X in a large percentage of patients. Functional interactions between genes in chromosome 14 CNVs and known TS-associated genes were identified, revealing a potential common genomic network underlying the TS phenotype. This suggests that CNV defects in autosomes, particularly chromosome 14 or X, may play a role in the clinical presentation of TS, warranting further investigation.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Anna Sophie L. Kjaer, Jorgen H. Petersen, Amanda Cleemann Wang, Klaus Juul, Ida M. Schmidt, Katharina M. Main, Anders Juul, Rikke Beck Jensen
Summary: Girls with Turner syndrome (TS) have significantly higher blood pressure than the reference population, particularly for diastolic blood pressure. After adjusting for body mass index, girls with TS still have significantly higher diastolic blood pressure than the reference population. There is no significant correlation between blood pressure differences and karyotype, estrogen treatment, or cardiac diagnosis in TS girls.
CLINICAL ENDOCRINOLOGY
(2022)
Article
Medicine, General & Internal
Spela Zerovnik, Mitja Kos, Igor Locatelli
Summary: The study showed that SGLT2i and GLP-1RA as add-on therapy can reduce cardiovascular morbidity and mortality in patients with type 2 diabetes compared with DPP-4i.
Article
Medicine, General & Internal
Takayuki Yamaji, Takahiro Harada, Yu Hashimoto, Yuji Takaeko, Masato Kajikawa, Yiming Han, Tatsuya Maruhashi, Shinji Kishimoto, Haruki Hashimoto, Yasuki Kihara, Eisuke Hida, Kazuaki Chayama, Chikara Goto, Farina Mohamad Yusoff, Ayumu Nakashima, Yukihito Higashi
Summary: This study aimed to investigate the relationship between HbA1c levels and vascular function in patients with type 2 diabetes. Results showed an inverted U-shaped pattern of association between HbA1c levels and FMD, with FMD being significantly smaller in patients with low HbA1c levels. There were no significant differences in NID values among the groups.
Review
Peripheral Vascular Disease
Lily Jones, Joanne Blair, Daniel B. Hawcutt, Gregory Y. H. Lip, Alena Shantsila
Summary: Acquired cardiovascular diseases are the main cause of increased premature death risk in patients with Turner syndrome (TS), with hypertension being a major modifiable cardiovascular risk factor. Hypertension has a high prevalence in TS, occurring at an early age and leading to prolonged exposure to high blood pressure. The etiology of hypertension in TS is largely unknown, but recent hypotheses suggest altered sympathetic tone, vasculopathy, and endocrine factors. This comprehensive review aims to provide insights into the mechanisms of hypertension in TS, and how it can aid diagnostics and the selection of optimal antihypertensive treatments to prevent complications and improve the quality of life and lifespan of TS patients.
JOURNAL OF HYPERTENSION
(2023)
Article
Medicine, General & Internal
Rohan Khera, Martijn J. Schuemie, Yuan Lu, Anna Ostropolets, RuiJun Chen, George Hripcsak, Patrick B. Ryan, Harlan M. Krumholz, Marc A. Suchard
Summary: The LEGEND-T2DM initiative aims to assess the relative effects of different antihyperglycemic agents on cardiovascular risk in patients with type 2 diabetes mellitus. This large-scale, multinational study will utilize a network of health databases to compare the effectiveness and safety of four major second-line T2DM drugs. The study will provide valuable insights into the cardiovascular outcomes associated with these medications.
Review
Peripheral Vascular Disease
Gaetano Santulli, Fahimeh Varzideh, Imma Forzano, Scott Wilson, Luigi Salemme, Antonio de Donato, Angela Lombardi, Antonio Rainone, Luigi Nunziata, Stanislovas S. Jankauskas, Tullio Tesorio, Germano Guerra, Urna Kansakar, Pasquale Mone
Summary: SGLT2 inhibitors have beneficial effects on kidney and heart function, and they can improve physical and cognitive impairment in frail older adults.
Article
Genetics & Heredity
Cecilia Sena, Grazia Iannello, Alicja A. Skowronski, Katelyn Dannheim, Leonard Cheung, Pankaj B. Agrawal, Joel N. Hirschhorn, Phillip Zeitler, Charles A. LeDuc, George Stratigopoulos, Vidhu V. Thaker
Summary: Lowe syndrome, an X linked genetic disorder, is characterized by congenital cataract, cognitive/behavioural impairment, and renal tubulopathy. This retrospective study analyzed the clinical features of 137 LS patients, revealing common characteristics such as short stature, undescended testis, and dental problems. The study also found that OCRL is expressed in the hypothalamus and pituitary, and is associated with various neuropeptides.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Medicine, General & Internal
Emily Brown, Moon M. Wilton, Victoria S. Sprung, Joanne A. Harrold, Jason C. G. Halford, Andrej Stancak, Malcolm Burgess, Elaine Howarth, A. Margot Umpleby, Graham J. Kemp, John P. H. Wilding, Daniel J. Cuthbertson
Summary: This study will conduct a 32-week clinical trial to investigate the effects of coadministration of exenatide QW and dapagliflozin on patients with type 2 diabetes, focusing on the impacts on weight and fat mass.
Article
Ophthalmology
Sia Kjeldsen, Niels Andersen, Kristian Groth, Dorte Larsen, Jesper Hjortdal, Agnethe Berglund, Claus Gravholt, Kirstine Stochholm
Summary: This study comprehensively evaluated the ocular morbidity in patients with Marfan syndrome using data from the Danish national healthcare registers. The results showed that patients with Marfan syndrome have a significant burden of ophthalmic complications, highlighting the need for thorough and experienced ophthalmological surveillance.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2023)
Review
Endocrinology & Metabolism
Claus H. Gravholt, Mette Viuff, Jesper Just, Kristian Sandahl, Sara Brun, Janielle van der Velden, Niels H. Andersen, Anne Skakkebaek
Summary: Turner syndrome is a rare genetic condition in females characterized by the absence or partial absence of the second sex chromosome, resulting in various clinical features such as short stature, ovarian dysgenesis, delayed puberty and infertility, congenital malformations, endocrine disorders, and neurocognitive deficits. A multidisciplinary approach is necessary for the management of TS, and recent clinical advances and genomic discoveries in this field are reviewed and discussed.
Editorial Material
Cardiac & Cardiovascular Systems
Niels Holmark Andersen, Torben Jorgensen, John Brandt Brodersen
EUROPEAN HEART JOURNAL
(2023)
Article
Endocrinology & Metabolism
Lukas Ochsner Ridder, Kirstine Stochholm, Kristian Havmand Mortensen, Niels Holmark Andersen, Claus Hojbjerg Gravholt
Summary: This study investigated the cardiovascular risks and congenital heart disease in Turner syndrome (TS) patients and controls, and found that TS patients had lower levels of transforming growth factor beta (TGFβ) and matrix metalloproteinase (MMP's), while tissue inhibitor of matrix metalloproteinase (TIMP) levels were correlated with aortic diameter. These findings suggest that TGFβ and TIMP may play a role in the development of coarctation and dilated aorta in TS patients.
CLINICAL ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Malene Lyder Mortensen, Marie Juul Ornstrup, Claus H. Gravholt
Summary: Continuous subcutaneous hydrocortisone infusion (CSHI) can reduce glucocorticoid doses and hospitalizations, improve cortisol levels in the blood, and enhance patients' quality of life.
INTERNATIONAL JOURNAL OF ENDOCRINOLOGY
(2023)
Article
Genetics & Heredity
Mette Viuff, Anne Skakkebaek, Emma B. Johannsen, Simon Chang, Steen Bonlykke Pedersen, Katrine Meyer Lauritsen, Mette Glavind Bulow Pedersen, Christian Trolle, Jesper Just, Claus H. Gravholt
Summary: This study comprehensively analyzed the effects of the X chromosome number on the transcriptome and methylome in blood, fat, and muscle tissue of individuals with sex chromosome aneuploidies (SCAs). It was found that X chromosome number globally affected the transcriptome and methylome in a tissue-specific manner. The study also identified different gene expression and methylation patterns between 45,X and 47,XXY, and observed a significant effect of sex in fat and muscle tissue. Additionally, the study found regulatory functions of Y chromosomal genes on X chromosomal genes.
Review
Endocrinology & Metabolism
Lukas Ochsner Ridder, Agnethe Berglund, Kirstine Stochholm, Simon Chang, Claus H. Gravholt
Summary: Klinefelter syndrome (KS, 47,XXY) and 47,XYY syndrome are genetic conditions characterized by an extra sex chromosome. They have many similarities, but also exhibit phenotypic differences. Both conditions have a high prevalence in males, with KS at 152 per 100,000 newborn males and 47,XYY at 98 per 100,000. However, a significant portion of cases remain undiagnosed. Both syndromes are associated with increased mortality, a range of diseases, neurocognitive deficits, and social and behavioral problems. They also have socioeconomic implications, such as lower income, educational level, and higher crime rates. Infertility is a key feature of KS, while fertility is also reduced in 47,XYY. Early diagnosis is important for improved outcomes through timely intervention.
ENDOCRINE CONNECTIONS
(2023)
Article
Cardiac & Cardiovascular Systems
Maria W. Pedersen, Kristian Kragholm, Riina Oksjoki, Jacob E. Moller, Anna Gundlund, Emil Fosbol, Dorte G. Nielsen, Lars Kober, Christian Torp-Pedersen, Peter Sogaard, Niels H. Andersen
Summary: This study describes the characteristics and outcomes of patients with acute type A and type B aortic dissection in Denmark. The study found higher in-hospital mortality for type A aortic dissection and higher mortality rate for discharged patients with type B aortic dissection.
ANNALS OF THORACIC SURGERY
(2023)
Article
Obstetrics & Gynecology
Emma B. Johannsen, Anne Skakkebaek, Joanna M. Kalucka, Jens Fedder, Claus H. Gravholt, Jesper Just
Summary: This study investigates the gene expression pattern at the single-cell level in the testes of individuals with Klinefelter syndrome (KS) and its association with microvascular dysfunction. The findings suggest excessive endothelial cell activation, disorganized vessel formation, and compromised vessel integrity in individuals with KS.
HUMAN REPRODUCTION
(2023)
Article
Genetics & Heredity
K. W. Fjermestad, R. R. Finnbakk, A. -K. Solbakk, C. H. Gravholt, R. J. Huster
Summary: This study investigated sleep among men with Klinefelter syndrome (KS). It compared sleep patterns between 30 men with KS and 21 age-matched non-KS controls using objective measures such as actigraphy and subjective measures like sleep diary and the Pittsburgh Sleep Quality Index (PSQI). The results showed that KS men experienced more sleep disturbance, but KS status was not a significant predictor of sleep domains when other factors such as age, education level, and vocational status were considered.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Multidisciplinary Sciences
Anne Skakkebaek, Kasper Kjaer-Sorensen, Vladimir V. Matchkov, Lise-Lotte Christensen, Jesper Just, Cagla Comert, Niels Holmark Andersen, Claus Oxvig, Claus Hojbjerg Gravholt
Summary: The genetic basis of the QT interval, which represents the time for heartbeat repolarization, is not fully understood. This study explores the contribution of the pseudoautosomal gene SLC25A6 to QT interval variation using human participants and zebrafish models. The results show that higher expression of SLC25A6 is associated with shorter QTc intervals, and pharmacological modulation of K-ATP channels can restore the interval duration. This indicates that SLC25A6 plays a role in QT interval variation.
SCIENTIFIC REPORTS
(2023)
Review
Hematology
Casper Falster, Maja Hellfritzsch, Thomas Agerbo Gaist, Mikkel Brabrand, Rahul Bhatnagar, Mads Nybo, Niels Holmark Andersen, Gro Egholm
Summary: Pulmonary embolism is a leading cause of death from cardiovascular disease. Timely and accurate diagnosis is challenging due to its unspecific clinical presentation and resemblance to other medical emergencies. Clinical prediction rules and D-dimer measurement are crucial in selecting patients for diagnostic imaging.
LANCET HAEMATOLOGY
(2023)
Article
Endocrinology & Metabolism
Kristian Juul Sandahl, Jesper Just, Mogens Erlandsen, Kristian Havmand Mortensen, Niels Holmark Andersen, Claus Hojbjerg Gravholt
Summary: Hyperlipidemia is more prevalent in adult women with Turner syndrome (TS) compared to the background population. Total cholesterol, low-density lipoprotein, triglycerides, and high-density lipoprotein were significantly associated with body mass index, indicating an atherogenic profile.
JOURNAL OF THE ENDOCRINE SOCIETY
(2023)
Article
Endocrinology & Metabolism
Simon Chang, Jesper Just, Anne Skakkebaek, Emma B. Johannsen, Jens Fedder, Claus H. Gravholt, Anna-Marie B. Muenster
Summary: Men with Klinefelter syndrome (KS) have an increased risk of thrombosis and are in need of testosterone replacement therapy (TRT) to alleviate their hypogonadism. This study aimed to evaluate the effects of 18 months of TRT on hemostasis in KS and identify genes associated with the prothrombotic phenotype. The results showed that KS patients have fibrinolytic impairment and an increased risk of thrombosis. However, TRT can reduce body fat and fibrinogen levels, thereby attenuating the prothrombotic profile and improving the fibrinolytic impairment in KS patients.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)