Search Results

You are looking at 81 - 90 of 110 items for

  • Abstract: Arteries x
  • Abstract: Atherosclerosis x
  • Abstract: Carotid x
  • Abstract: Circulation x
  • Abstract: Stroke x
  • Abstract: Veins x
  • Abstract: Heart x
  • Abstract: cardiac* x
  • Abstract: Myocardial x
Clear All Modify Search
Diana-Alexandra Ertl Department of Pulmonology, Allergology and Endocrinology, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

Search for other papers by Diana-Alexandra Ertl in
Google Scholar
PubMed
Close
,
Andreas Gleiss Center for Medical Statistics, Informatics, and Intelligent Systems, Medical University of Vienna, Vienna, Austria

Search for other papers by Andreas Gleiss in
Google Scholar
PubMed
Close
,
Katharina Schubert Department of Pulmonology, Allergology and Endocrinology, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

Search for other papers by Katharina Schubert in
Google Scholar
PubMed
Close
,
Caroline Culen Department of Pulmonology, Allergology and Endocrinology, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

Search for other papers by Caroline Culen in
Google Scholar
PubMed
Close
,
Peer Hauck Pediatric Heart Center Vienna, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

Search for other papers by Peer Hauck in
Google Scholar
PubMed
Close
,
Johannes Ott Clinic Division for Gynecologic Endocrinology and Reproductive Medicine, Medical University of Vienna, Vienna, Austria

Search for other papers by Johannes Ott in
Google Scholar
PubMed
Close
,
Alois Gessl Division of Endocrinology, University Clinic of Internal Medicine III, Medical University of Vienna, Vienna, Austria

Search for other papers by Alois Gessl in
Google Scholar
PubMed
Close
, and
Gabriele Haeusler Department of Pulmonology, Allergology and Endocrinology, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

Search for other papers by Gabriele Haeusler in
Google Scholar
PubMed
Close

Background

Previous studies have shown that only a minority of patients with Turner syndrome (TS) have adequate medical care after transfer to adult care.

Aim of this study

To assess the status of medical follow-up and quality of life (QoL) in adult women diagnosed with TS and followed up until transfer. To compare the subjective and objective view of the medical care quality and initiate improvements based on patients’ experiences and current recommendations.

Methods

39 adult women with TS out of 64 patients contacted were seen for a clinical and laboratory check, cardiac ultrasound, standardized and structured questionnaires (SF-36v2 and Beck depression inventory).

Results

7/39 of the patients were not being followed medically at all. Only 2/39 consulted all the specialists recommended. Comorbidities were newly diagnosed in 27/39 patients; of these, 11 related to the cardiovascular system. Patients in our cohort scored as high as the mean reference population for SF-36v2 in both mental and physical compartments. Obese participants had lower scores in the physical function section, whereas higher education was related to higher physical QoL scores. Adult height slightly correlated positively with physical health.

Conclusion

Medical follow-up was inadequate in our study cohort of adults with TS. Even though their medical follow-up was insufficient, these women felt adequately treated, leaving them vulnerable for premature illness. Initiatives in health autonomy and a structured transfer process as well as closer collaborations within specialities are urgently needed.

Open access
Ann-Cathrin Koschker Division of Endocrinology and Diabetology, Department of Internal Medicine I, University Hospital, University of Würzburg, Würzburg, Germany
Comprehensive Heart Failure Center, University & University Hospital Würzburg, Würzburg, Germany

Search for other papers by Ann-Cathrin Koschker in
Google Scholar
PubMed
Close
,
Bodo Warrings Comprehensive Heart Failure Center, University & University Hospital Würzburg, Würzburg, Germany
Department of Psychiatry, Psychosomatics and Psychotherapy, University Hospital, University of Würzburg, Würzburg, Germany

Search for other papers by Bodo Warrings in
Google Scholar
PubMed
Close
,
Caroline Morbach Comprehensive Heart Failure Center, University & University Hospital Würzburg, Würzburg, Germany
Division of Cardiology, Department of Internal Medicine I, University Hospital, University of Würzburg, Würzburg, Germany

Search for other papers by Caroline Morbach in
Google Scholar
PubMed
Close
,
Florian Seyfried Department of General, Visceral, Transplant, Vascular, and Pediatric Surgery, University Hospital, University of Würzburg, Würzburg, Germany

Search for other papers by Florian Seyfried in
Google Scholar
PubMed
Close
,
Nicole Rickert Department of Radiology, University Hospital, University of Würzburg, Würzburg, Germany

Search for other papers by Nicole Rickert in
Google Scholar
PubMed
Close
,
Pius Jung Division of Pneumology, Department of Internal Medicine I, University Hospital, University of Würzburg, Würzburg, Germany

Search for other papers by Pius Jung in
Google Scholar
PubMed
Close
,
Andreas Geier Division of Hepatology, Department of Internal Medicine II, University Hospital, University of Würzburg, Würzburg, Germany

Search for other papers by Andreas Geier in
Google Scholar
PubMed
Close
,
Ulrich Dischinger Division of Endocrinology and Diabetology, Department of Internal Medicine I, University Hospital, University of Würzburg, Würzburg, Germany

Search for other papers by Ulrich Dischinger in
Google Scholar
PubMed
Close
,
Maike Krauthausen Department of General Practice, University Hospital, University of Würzburg, Würzburg, Germany

Search for other papers by Maike Krauthausen in
Google Scholar
PubMed
Close
,
Martin J Herrmann Department of Psychiatry, Psychosomatics and Psychotherapy, University Hospital, University of Würzburg, Würzburg, Germany

Search for other papers by Martin J Herrmann in
Google Scholar
PubMed
Close
,
Christine Stier Division of Endocrinology and Diabetology, Department of Internal Medicine I, University Hospital, University of Würzburg, Würzburg, Germany
Department of General, Visceral, Transplant, Vascular, and Pediatric Surgery, University Hospital, University of Würzburg, Würzburg, Germany

Search for other papers by Christine Stier in
Google Scholar
PubMed
Close
,
Stefan Frantz Comprehensive Heart Failure Center, University & University Hospital Würzburg, Würzburg, Germany
Division of Cardiology, Department of Internal Medicine I, University Hospital, University of Würzburg, Würzburg, Germany

Search for other papers by Stefan Frantz in
Google Scholar
PubMed
Close
,
Uwe Malzahn Center for Clinical Trials, University Hospital, University of Würzburg, Würzburg, Germany

Search for other papers by Uwe Malzahn in
Google Scholar
PubMed
Close
,
Stefan Störk Comprehensive Heart Failure Center, University & University Hospital Würzburg, Würzburg, Germany
Division of Cardiology, Department of Internal Medicine I, University Hospital, University of Würzburg, Würzburg, Germany

Search for other papers by Stefan Störk in
Google Scholar
PubMed
Close
,
Martin Fassnacht Division of Endocrinology and Diabetology, Department of Internal Medicine I, University Hospital, University of Würzburg, Würzburg, Germany
Comprehensive Heart Failure Center, University & University Hospital Würzburg, Würzburg, Germany

Search for other papers by Martin Fassnacht in
Google Scholar
PubMed
Close
, and
the WAS Study Group
Search for other papers by the WAS Study Group in
Google Scholar
PubMed
Close
the WAS Study Group

Obesity is a rapidly emerging health problem and an established risk factor for cardiovascular diseases. Bariatric surgery profoundly reduces body weight and mitigates sequelae of obesity. The open, randomized controlled Würzburg Adipositas Studie (WAS) trial compares the effects of Roux-en-Y gastric bypass (RYGB) vs psychotherapy-supported lifestyle modification in morbidly obese patients. The co-primary endpoint addresses 1-year changes in cardiovascular function (peak VO2 during cardiopulmonary exercise testing) and the quality of life (QoL) (Short-Form-36 physical functioning scale). Prior to randomization, all included patients underwent a multimodal anti-obesity treatment for 6–12 months. Thereafter, the patients were randomized and followed through month 12 to collect the primary endpoints. Afterwards, patients in the lifestyle group could opt for surgery, and final visit was scheduled for all patients 24 months after randomization. Sample size calculation suggested to enroll 90 patients in order to arrive at minimally 22 patients per group evaluable for the primary endpoint. Secondary objectives were to quantify changes in body weight, left ventricular hypertrophy, systolic and diastolic function (by echocardiography and cardiac MRI), functional brain MRI, psychometric scales, and endothelial and metabolic function. WAS enrolled 93 patients (72 women, median age 38 years, BMI 47.5 kg/m2) exhibiting a relevantly compromised exercise capacity (median peakVO2 18.3 mL/min/kg) and the QoL (median physical functioning scale 50). WAS is the first randomized controlled trial focusing on the effects of RYGB on cardiovascular function beyond hypertension. In addition, it will provide a wealth of high-quality data on the cerebral, psychiatric, hepatic, and metabolic function in obese patients after RYGB.

Open access
Merlin C Thomas Department of Diabetes, Central Clinical School, Monash University, Melbourne, VIC, Australia

Search for other papers by Merlin C Thomas in
Google Scholar
PubMed
Close
,
Brendon L Neuen The George Institute for Global Health, Sydney, NSW, Australia

Search for other papers by Brendon L Neuen in
Google Scholar
PubMed
Close
,
Stephen M Twigg The University of Sydney School of Medicine, Sydney, NSW, Australia
Department of Endocrinology, Royal Prince Alfred Hospital, Sydney, NSW, Australia

Search for other papers by Stephen M Twigg in
Google Scholar
PubMed
Close
,
Mark E Cooper Department of Diabetes, Central Clinical School, Monash University, Melbourne, VIC, Australia

Search for other papers by Mark E Cooper in
Google Scholar
PubMed
Close
, and
Sunil V Badve The George Institute for Global Health, Sydney, NSW, Australia
Department of Renal Medicine, St George Hospital, Sydney, NSW, Australia
Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia

Search for other papers by Sunil V Badve in
Google Scholar
PubMed
Close

Sodium‐glucose co-transporter 2 (SGLT2) inhibitors have recently emerged as an effective means to protect kidney function in people with type 2 diabetes and chronic kidney disease (CKD). In this review, we explore the role of SGLT2 inhibition in these individuals. SGLT2 inhibitors specifically act to inhibit sodium and glucose reabsorption in the early proximal tubule of the renal nephron. Although originally developed as glucose-lowering agents through their ability to induce glycosuria, it became apparent in cardiovascular outcome trials that the trajectory of kidney function decline was significantly slowed and the incidence of serious falls in kidney function was reduced in participants receiving an SGLT2 inhibitor. These observations have recently led to specific outcome trials in participants with CKD, including DAPA-CKD, CREDENCE and EMPA-KIDNEY, and real-world studies, like CVD-REAL-3, that have confirmed the observation of kidney benefits in this setting. In response, recent KDIGO Guidelines have recommended the use of SGLT2 inhibitors as first-line therapy in patients with CKD, alongside statins, renin–angiotensin–aldosterone system inhibitors and multifactorial risk factor management as indicated. However, SGLT2 inhibitors remain significantly underutilized in the setting of CKD. Indeed, an inertia paradox exists, with patients with more severe disease less likely to receive an SGLT2 inhibitor. Concerns regarding safety appear unfounded, as acute kidney injury, hyperkalaemia, major acute cardiovascular events and cardiac death in patients with CKD appear to be lower following SGLT2 inhibition. The first-in-class indication of dapagliflozin for CKD may begin a new approach to managing kidney disease in type 2 diabetes.

Open access
Gabriella Oliveira Lima Laboratory of Pharmacology and Toxicology of Natural Products, Institute of Biological Sciences, Federal University of Pará, Belém, Pará, Brazil

Search for other papers by Gabriella Oliveira Lima in
Google Scholar
PubMed
Close
,
Alex Luiz Menezes da Silva Laboratory of Pharmacology and Toxicology of Natural Products, Institute of Biological Sciences, Federal University of Pará, Belém, Pará, Brazil

Search for other papers by Alex Luiz Menezes da Silva in
Google Scholar
PubMed
Close
,
Julianne Elba Cunha Azevedo Laboratory of Pharmacology and Toxicology of Natural Products, Institute of Biological Sciences, Federal University of Pará, Belém, Pará, Brazil

Search for other papers by Julianne Elba Cunha Azevedo in
Google Scholar
PubMed
Close
,
Chirlene Pinheiro Nascimento Laboratory of Pharmacology and Toxicology of Natural Products, Institute of Biological Sciences, Federal University of Pará, Belém, Pará, Brazil

Search for other papers by Chirlene Pinheiro Nascimento in
Google Scholar
PubMed
Close
,
Luana Rodrigues Vieira Laboratory of Pharmacology and Toxicology of Natural Products, Institute of Biological Sciences, Federal University of Pará, Belém, Pará, Brazil

Search for other papers by Luana Rodrigues Vieira in
Google Scholar
PubMed
Close
,
Akira Otake Hamoy Laboratory of Pharmacology and Toxicology of Natural Products, Institute of Biological Sciences, Federal University of Pará, Belém, Pará, Brazil

Search for other papers by Akira Otake Hamoy in
Google Scholar
PubMed
Close
,
Luan Oliveira Ferreira Laboratory of Experimental Neuropathology, Institute of Biological Sciences, Federal University of Pará, Belém, Pará, Brazil

Search for other papers by Luan Oliveira Ferreira in
Google Scholar
PubMed
Close
,
Verônica Regina Lobato Oliveira Bahia Multidisciplinary Laboratory of Animal Morphology, Institute of Biological Sciences, Federal University of Pará, Belém, Pará, Brazil

Search for other papers by Verônica Regina Lobato Oliveira Bahia in
Google Scholar
PubMed
Close
,
Nilton Akio Muto Amazon Bioactive Compounds Valorization Center, Institute of Biological Sciences, Federal University of Pará, Belém, Pará, Brazil

Search for other papers by Nilton Akio Muto in
Google Scholar
PubMed
Close
,
Dielly Catrina Favacho Lopes Laboratory of Experimental Neuropathology, Institute of Biological Sciences, Federal University of Pará, Belém, Pará, Brazil

Search for other papers by Dielly Catrina Favacho Lopes in
Google Scholar
PubMed
Close
, and
Moisés Hamoy Laboratory of Pharmacology and Toxicology of Natural Products, Institute of Biological Sciences, Federal University of Pará, Belém, Pará, Brazil

Search for other papers by Moisés Hamoy in
Google Scholar
PubMed
Close

Low plasma levels of vitamin D causes bone mineral change that can precipitate osteopenia and osteoporosis and could aggravate autoimmune diseases, hypertension and diabetes. The demand for vitamin D supplementation becomes necessary; however, the consumption of vitamin D is not without risks, which its toxicity could have potentially serious consequences related to hypervitaminosis D, such as hypercalcemia and cerebral alterations. Thus, the present study describes the electroencephalographic changes caused by supraphysiological doses of vitamin D in the brain electrical dynamics and the electrocardiographic changes. After 4 days of treatment with vitamin D at a dose of 25,000 IU/kg, the serum calcium levels found were increased in comparison with the control group. The electrocorticogram analysis found a reduction in wave activity in the delta, theta, alpha and beta frequency bands. For ECG was observed changes with shortened QT follow-up, which could be related to serum calcium concentration. This study presented important evidence about the cerebral and cardiac alterations caused by high doses of vitamin D, indicating valuable parameters in the screening and decision-making process for diagnosing patients with symptoms suggestive of intoxication.

Open access
Wang-shu Liu Department of Endocrinology, Affiliated Hospital 2 of Nantong University and First People’s Hospital of Nantong City, Nantong, China

Search for other papers by Wang-shu Liu in
Google Scholar
PubMed
Close
,
Ling-yan Hua Department of Ophthalmology, Affiliated Hospital 2 of Nantong University and First People’s Hospital of Nantong City, Nantong, China

Search for other papers by Ling-yan Hua in
Google Scholar
PubMed
Close
,
Su-xiang Zhu Department of Endocrinology, Affiliated Hospital 2 of Nantong University and First People’s Hospital of Nantong City, Nantong, China

Search for other papers by Su-xiang Zhu in
Google Scholar
PubMed
Close
,
Feng Xu Department of Endocrinology, Affiliated Hospital 2 of Nantong University and First People’s Hospital of Nantong City, Nantong, China

Search for other papers by Feng Xu in
Google Scholar
PubMed
Close
,
Xue-qin Wang Department of Endocrinology, Affiliated Hospital 2 of Nantong University and First People’s Hospital of Nantong City, Nantong, China

Search for other papers by Xue-qin Wang in
Google Scholar
PubMed
Close
,
Chun-feng Lu Department of Endocrinology, Affiliated Hospital 2 of Nantong University and First People’s Hospital of Nantong City, Nantong, China

Search for other papers by Chun-feng Lu in
Google Scholar
PubMed
Close
,
Jian-bin Su Department of Endocrinology, Affiliated Hospital 2 of Nantong University and First People’s Hospital of Nantong City, Nantong, China

Search for other papers by Jian-bin Su in
Google Scholar
PubMed
Close
, and
Feng Qi Emergency Intensive Care Unit, Affiliated Hospital 2 of Nantong University and First People’s Hospital of Nantong City, Nantong, China

Search for other papers by Feng Qi in
Google Scholar
PubMed
Close

Background

The aim of the study was to explore whether plasma stromal cell-derived factor 1 (SDF-1) levels are associated with the EZSCAN score and its derived indicators in patients with type 2 diabetes (T2D).

Methods

From July 2020 to December 2020, a total of 253 patients with T2D were consecutively recruited. Serum SDF-1 levels were measured by sandwich ELISA. EZSCAN test was applied to evaluate the sudomotor function of each patient, and based on the results, EZSCAN score, cardiac autonomic neuropathy risk score (CANRS) and cardiovascular risk score (CVDRS) were calculated by particular algorithms. In addition, other relevant clinical data were also collected.

Results

With increasing tertiles of serum SDF-1 levels, the CANRS and CVDRS significantly increased (both Pfor trend <0.001), while the EZSCAN score significantly decreased (Pfor trend <0.001). Moreover, serum SDF-1 levels were significantly and positively correlated with the CANRS and CVDRS (r = 0.496 and 0.510, respectively, both P  < 0.001), and negatively correlated with the EZSCAN score (r = −0.391, P  < 0.001). Furthermore, multivariate linear regression analyses were constructed, and after adjusting for other clinical covariates, serum SDF-1 levels were independently responsible for EZSCAN score (β = −0.273, t = −3.679, P  < 0.001), CANRS (β = 0.334, t = 5.110, P  < 0.001) and CVDRS (β = 0.191, t = 4.983, P  = 0.003).

Conclusions

SDF-1 levels in serum were independently associated with the EZSCAN score and its derived indicators, such as CANRS and CVDRS in patients with T2D.

Open access
Alexandra Kiess Department of Pediatric Cardiology, Faculty of Medicine, Heart Center Leipzig, University of Leipzig, Strümpellstraße, Leipzig, Germany
Department of Child and Adolescent Medicine, Section of Pediatric Cardiology, University Hospital Jena, Am Klinikum, Jena, Germany

Search for other papers by Alexandra Kiess in
Google Scholar
PubMed
Close
,
Jessica Green Alder Hey Children's NHS Foundation Trust, Pediatric Intensive Care Unit, Eaton Road Liverpool, Great Britain

Search for other papers by Jessica Green in
Google Scholar
PubMed
Close
,
Anja Willenberg Institute of Laboratory Medicine, Clinical Chemistry, and Molecular Diagnostics (ILM), University of Leipzig, Liebigstrasse, Leipzig, Germany

Search for other papers by Anja Willenberg in
Google Scholar
PubMed
Close
,
Uta Ceglarek Institute of Laboratory Medicine, Clinical Chemistry, and Molecular Diagnostics (ILM), University of Leipzig, Liebigstrasse, Leipzig, Germany

Search for other papers by Uta Ceglarek in
Google Scholar
PubMed
Close
,
Ingo Dähnert Department of Pediatric Cardiology, Faculty of Medicine, Heart Center Leipzig, University of Leipzig, Strümpellstraße, Leipzig, Germany

Search for other papers by Ingo Dähnert in
Google Scholar
PubMed
Close
,
Wieland Kiess LIFE Leipzig Research Center for Civilization Diseases, University of Leipzig, Philipp-Rosenthal-Strasse, Leipzig, Germany
Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany

Search for other papers by Wieland Kiess in
Google Scholar
PubMed
Close
, and
Mandy Vogel LIFE Leipzig Research Center for Civilization Diseases, University of Leipzig, Philipp-Rosenthal-Strasse, Leipzig, Germany
Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany

Search for other papers by Mandy Vogel in
Google Scholar
PubMed
Close

Background and objectives

As part of the LIFE Child study, we previously described the associations between N-terminal-pro-hormone brain natriuretic peptide (NT-proBNP) and hs-troponin T (hs-TnT) levels and an individual’s sex, age and pubertal status, as well as with body mass index (BMI) and serum lipid levels. For NT-proBNP, we found inverse associations with advancing puberty, increasing BMI and serum lipid levels. These findings led us to further question the putative influences of the developing individual’s metabolic and growth status as represented by levels of insulin-like growth factor-1 (IGF-1) and IGF-1-binding protein-3 (IGF-BP3) as well as hemoglobin A1c (HbA1c) and Cystatin C (CysC).

Material and methods

Serum values, medical history and anthropometric data provided by 2522 children aged 0.25–18 years were collected and analyzed as per study protocol.

Results

A strong negative association between NT-proBNP values and IGF-1, IGF-BP3 and HbA1c levels was identified. For IGF-BP3, this interaction was modulated by sex and age, for HbA1c only by age. For hs-TnT, a positive association was found with IGF-BP3, IGF-1 and CysC. The association between hs-TnT and IGF-1 was sex dependent. The association between CysC and hs-TnT was stronger in girls, but the interaction with age was only seen in boys. Between hs-TnT and HbA1c, the association was significantly negative and modulated by age.

Conclusion

Based on our large pediatric cohort, we could identify age- and sex-dependent interactions between the metabolic status represented by IGF-1, IGF-BP3, CysC and HbA1c levels and the cardiac markers NT-proBNP and hs-TnT.

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
Sharmin Jahan Department of Medicine, Monash University, Melbourne, Victoria, Australia
Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Victoria, Australia
Department of Endocrinology and Metabolism, BSMMU, Dhaka, Bangladesh

Search for other papers by Sharmin Jahan in
Google Scholar
PubMed
Close
,
Jun Yang Department of Medicine, Monash University, Melbourne, Victoria, Australia
Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Victoria, Australia

Search for other papers by Jun Yang in
Google Scholar
PubMed
Close
,
Jinbo Hu Department of Endocrinology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China

Search for other papers by Jinbo Hu in
Google Scholar
PubMed
Close
,
Qifu Li Department of Endocrinology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China

Search for other papers by Qifu Li in
Google Scholar
PubMed
Close
, and
Peter J Fuller Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Victoria, Australia

Search for other papers by Peter J Fuller in
Google Scholar
PubMed
Close

Primary aldosteronism (PA) is the most common cause of endocrine hypertension and is often underdiagnosed. This condition is associated with increased cardiovascular morbidity and mortality in comparison to age and blood pressure matched individuals with essential hypertension (EH). The diagnostic pathway for PA consists of three phases: screening, confirmatory testing, and subtyping. The lack of specificity in the screening step, which relies on the aldosterone to renin ratio, necessitates confirmatory testing. The Endocrine Society’s clinical practice guideline suggests four confirmatory tests, including the fludrocortisone suppression test (FST), saline suppression test (SST), captopril challenge test (CCT), and oral sodium loading test (SLT). There is no universally accepted choice of confirmatory test, with practices varying among centers. The SST and FST are commonly used, but they can be resource-intensive, carry risks such as volume overload or hypokalemia, and are contraindicated in severe/uncontrolled HTN as well as in cardiac and renal impairment. In contrast, CCT is a safe and inexpensive alternative that can be performed in an outpatient setting and can be applied when other tests are contraindicated. Despite its simplicity and convenience, the variability in captopril dose, testing posture, and diagnostic threshold limit its widespread use. This narrative review evaluates the diagnostic accuracy of the CCT across different populations, addresses controversies in its usage, and proposes recommendations for its use in the diagnosis of PA. Furthermore, suggestions for future research aimed at promoting the wider utilization of the CCT as a simpler, safer, and more cost-effective diagnostic test are discussed.

Open access
Arno Téblick Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium

Search for other papers by Arno Téblick in
Google Scholar
PubMed
Close
,
Ilse Vanhorebeek Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium

Search for other papers by Ilse Vanhorebeek in
Google Scholar
PubMed
Close
,
Inge Derese Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium

Search for other papers by Inge Derese in
Google Scholar
PubMed
Close
,
An Jacobs Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium

Search for other papers by An Jacobs in
Google Scholar
PubMed
Close
,
Renata Haghedooren Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium

Search for other papers by Renata Haghedooren in
Google Scholar
PubMed
Close
,
Sofie Maebe Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium

Search for other papers by Sofie Maebe in
Google Scholar
PubMed
Close
,
Gerdien A Zeilmaker-Roest Department of Neonatal & Pediatric Intensive Care, Division of Pediatric Intensive Care, Erasmus MC – Sophia Children’s Hospital, Rotterdam, the Netherlands

Search for other papers by Gerdien A Zeilmaker-Roest in
Google Scholar
PubMed
Close
,
Enno D Wildschut Department of Neonatal & Pediatric Intensive Care, Division of Pediatric Intensive Care, Erasmus MC – Sophia Children’s Hospital, Rotterdam, the Netherlands

Search for other papers by Enno D Wildschut in
Google Scholar
PubMed
Close
,
Lies Langouche Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium

Search for other papers by Lies Langouche in
Google Scholar
PubMed
Close
, and
Greet Van den Berghe Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium

Search for other papers by Greet Van den Berghe in
Google Scholar
PubMed
Close

In critically ill adults, high plasma cortisol in the face of low ACTH coincides with high pro-opiomelanocortin (POMC) levels. Glucocorticoids further lower ACTH without affecting POMC. We hypothesized that in pediatric cardiac surgery-induced critical illness, plasma POMC is elevated, plasma ACTH transiently rises intraoperatively but becomes suppressed post-operatively, and glucocorticoid administration amplifies this phenotype. From 53 patients (0–36 months), plasma was obtained pre-operatively, intraoperatively, and on post-operative days 1 and 2. Plasma was also collected from 24 healthy children. In patients, POMC was supra-normal pre-operatively (P < 0.0001) but no longer thereafter (P > 0.05). ACTH was never high in patients. While in glucocorticoid-naive patients ACTH became suppressed by post-operative day 1 (P < 0.0001), glucocorticoid-treated patients had already suppressed ACTH intraoperatively (P ≤ 0.0001). Pre-operatively high POMC, not accompanied by increased plasma ACTH, suggests a centrally activated HPA axis with reduced pituitary processing of POMC into ACTH. Increasing systemic glucocorticoid availability with glucocorticoid treatment accelerated the suppression of plasma ACTH.

Significance statement

Glucocorticoids are often administered during pediatric cardiac surgery. In critically ill children, endogenous systemic glucocorticoid availability is elevated already upon ICU admission while ACTH levels are normal. This hormonal constellation suggests the presence of active feedback inhibition of ACTH. In this study, we have documented that intraoperative administration of glucocorticoids accelerates the suppression of ACTH, resulting in low plasma ACTH already upon ICU admission. Pre-operative plasma POMC, the ACTH precursor, but not ACTH, was increased. This is compatible with a centrally activated HPA axis prior to surgery in young children but reduced processing of POMC into ACTH within the pituitary. These findings suggest that glucocorticoid treatment in the context of pediatric cardiac surgery may amplify pre-existing impaired pituitary processing of the prohormone POMC.

Open access
Aasem Saif Internal Medicine Department, Cairo University, Cairo, Egypt

Search for other papers by Aasem Saif in
Google Scholar
PubMed
Close
,
Shrook Mousa Internal Medicine Department, Cairo University, Cairo, Egypt

Search for other papers by Shrook Mousa in
Google Scholar
PubMed
Close
,
Maha Assem Internal Medicine Department, Cairo University, Cairo, Egypt

Search for other papers by Maha Assem in
Google Scholar
PubMed
Close
,
Nashwa Tharwat National Nutrition Institute, Cairo, Egypt

Search for other papers by Nashwa Tharwat in
Google Scholar
PubMed
Close
, and
Alaa Abdelhamid Internal Medicine Department, Cairo University, Cairo, Egypt
Vascular Laboratory, Cairo University, Cairo, Egypt

Search for other papers by Alaa Abdelhamid in
Google Scholar
PubMed
Close

Hypothyroidism is associated with increased risk of atherosclerosis. We assessed carotid intima-media thickness (CIMT), as a marker of atherosclerosis, and endothelial function in patients with hypothyroidism. We included 70 female patients with hypothyroidism in the study, 40 patients with overt and 30 patients with subclinical hypothyroidism. Forty, age- and sex-matched, subjects with normal thyroid functions were also included as a control group. CIMT was measured using high-resolution color-coded Doppler ultrasonography. Endothelial function was assessed by measuring the percent of change in blood flow following heat-mediated vasodilation using laser Doppler flowmetry. CIMT was significantly higher in patients with overt and subclinical hypothyroidism as compared with the control group (0.7 ± 0.2 and 0.6 ± 0.2 mm respectively vs 0.45 ± 0.07 mm, P < 0.001 for both). The percent of change in blood flow following heat-mediated vasodilation was significantly impaired in patients with overt and subclinical hypothyroidism as compared with the control group (328 ± 17 and 545 ± 406% respectively vs 898 ± 195%, P < 0.001 for both). The impairment was more significant in overt as compared with subclinical hypothyroidism (P = 0.014). CIMT negatively correlated with percent of change in blood flow following heat-mediated vasodilation in patients with overt and subclinical hypothyroidism (P < 0.001 for both). We concluded that CIMT is significantly higher in patients with overt and subclinical hypothyroidism compared with normal control subjects. Impairment of endothelial function is a contributing factor to the increased risk of atherosclerosis in both groups of patients.

Open access