Browse

You are looking at 111 - 120 of 1,402 items for

Marta Araujo-Castro Department of Endocrinology & Nutrition, Hospital Universitario Ramón y Cajal & Instituto de Investigación Biomédica Ramón y Cajal (IRYCIS), Madrid, Spain
University of Alcalá, Madrid, Spain

Search for other papers by Marta Araujo-Castro in
Google Scholar
PubMed
Close
,
Miguel Paja Fano Department of Endocrinology & Nutrition, OSI Bilbao-Basurto, Hospital Universitario de Basurton & Basque Country University, Medicine Department, Bilbao, Spain

Search for other papers by Miguel Paja Fano in
Google Scholar
PubMed
Close
,
Begoña Pla Peris Department of Endocrinology & Nutrition, Hospital Universitario de Castellón, Castellón, Spain

Search for other papers by Begoña Pla Peris in
Google Scholar
PubMed
Close
,
Marga González Boillos Department of Endocrinology & Nutrition, Hospital Universitario de Castellón, Castellón, Spain

Search for other papers by Marga González Boillos in
Google Scholar
PubMed
Close
,
Eider Pascual-Corrales Department of Endocrinology & Nutrition, Hospital Universitario Ramón y Cajal & Instituto de Investigación Biomédica Ramón y Cajal (IRYCIS), Madrid, Spain

Search for other papers by Eider Pascual-Corrales in
Google Scholar
PubMed
Close
,
Ana María García-Cano Department of Biochemistry, Hospital Universitario Ramón y Cajal, Madrid, Spain

Search for other papers by Ana María García-Cano in
Google Scholar
PubMed
Close
,
Paola Parra Ramírez Department of Endocrinology & Nutrition, Hospital Universitario La Paz Madrid, Spain

Search for other papers by Paola Parra Ramírez in
Google Scholar
PubMed
Close
,
Patricia Martín Rojas-Marcos Department of Endocrinology & Nutrition, Hospital Universitario La Paz Madrid, Spain

Search for other papers by Patricia Martín Rojas-Marcos in
Google Scholar
PubMed
Close
,
Jorge Gabriel Ruiz-Sanchez Department of Endocrinology & Nutrition, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain

Search for other papers by Jorge Gabriel Ruiz-Sanchez in
Google Scholar
PubMed
Close
,
Almudena Vicente Department of Endocrinology & Nutrition, Hospital Universitario de Toledo, Toledo, Spain

Search for other papers by Almudena Vicente in
Google Scholar
PubMed
Close
,
Emilia Gómez-Hoyos Department of Endocrinology & Nutrition, Hospital Universitario de Valladolid, Valladolid, Spain

Search for other papers by Emilia Gómez-Hoyos in
Google Scholar
PubMed
Close
,
Rui Ferreira Department of Endocrinology & Nutrition, Hospital Universitario Rey Juan Carlos, Madrid, Spain

Search for other papers by Rui Ferreira in
Google Scholar
PubMed
Close
,
Iñigo García Sanz Department of General & Digestive Surgery, Hospital Universitario de La Princesa, Madrid, Spain

Search for other papers by Iñigo García Sanz in
Google Scholar
PubMed
Close
,
Mónica Recasens Department of Endocrinology & Nutrition, Institut Català de la Salut Girona, Girona, Spain

Search for other papers by Mónica Recasens in
Google Scholar
PubMed
Close
,
Rebeca Barahona San Millan Department of Endocrinology & Nutrition, Institut Català de la Salut Girona, Girona, Spain

Search for other papers by Rebeca Barahona San Millan in
Google Scholar
PubMed
Close
,
María José Picón César Department of Endocrinology & Nutrition, Hospital Universitario Virgen de la Victoria de Málaga, IBIMA Malaga, Spain CIBEROBN, Madrid, Spain

Search for other papers by María José Picón César in
Google Scholar
PubMed
Close
,
Patricia Díaz Guardiola Department of Endocrinology & Nutrition, Hospital Universitario Infanta Sofía, Madrid, Spain

Search for other papers by Patricia Díaz Guardiola in
Google Scholar
PubMed
Close
,
Carolina Perdomo Department of Endocrinology & Nutrition, Clínica Universidad de Navarra, Pamplona, Spain

Search for other papers by Carolina Perdomo in
Google Scholar
PubMed
Close
,
Laura Manjón Department of Endocrinology & Nutrition, Hospital Universitario Central de Asturias & Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain

Search for other papers by Laura Manjón in
Google Scholar
PubMed
Close
,
Rogelio García-Centeno Department of Endocrinology & Nutrition, Hospital Universitario Gregorio Marañón, Madrid, Spain

Search for other papers by Rogelio García-Centeno in
Google Scholar
PubMed
Close
,
Juan Carlos Percovich Department of Endocrinology & Nutrition, Hospital Universitario Gregorio Marañón, Madrid, Spain

Search for other papers by Juan Carlos Percovich in
Google Scholar
PubMed
Close
,
Ángel Rebollo Román Department of Endocrinology & Nutrition, Hospital Reina Sofía, Córdoba, Spain

Search for other papers by Ángel Rebollo Román in
Google Scholar
PubMed
Close
,
Paola Gracia Gimeno Department of Endocrinology & Nutrition, Hospital Rollo Villanova, Zaragoza, Spain

Search for other papers by Paola Gracia Gimeno in
Google Scholar
PubMed
Close
,
Cristina Robles Lázaro Department of Endocrinology & Nutrition, Complejo Universitario de Salamanca, Salamanca, Spain

Search for other papers by Cristina Robles Lázaro in
Google Scholar
PubMed
Close
,
Manuel Morales Biochemistry and Molecular Genetics Department-CDB, Hospital Clinic, IDIBAPS, CIBERehd, Barcelona, Spain

Search for other papers by Manuel Morales in
Google Scholar
PubMed
Close
,
María Calatayud Department of Endocrinology & Nutrition, Hospital Doce de Octubre, Madrid, Spain

Search for other papers by María Calatayud in
Google Scholar
PubMed
Close
,
Simone Andree Furio Collao Department of Endocrinology & Nutrition, Hospital Doce de Octubre, Madrid, Spain

Search for other papers by Simone Andree Furio Collao in
Google Scholar
PubMed
Close
,
Diego Meneses Department of Endocrinology & Nutrition, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain

Search for other papers by Diego Meneses in
Google Scholar
PubMed
Close
,
Miguel Antonio Sampedro Nuñez Department of Endocrinology & Nutrition, Hospital Universitario La Princesa, Madrid, Spain

Search for other papers by Miguel Antonio Sampedro Nuñez in
Google Scholar
PubMed
Close
,
Verónica Escudero Quesada Department of Nephrology, Hospital Universitario Doctor Peser, Valencia, Spain

Search for other papers by Verónica Escudero Quesada in
Google Scholar
PubMed
Close
,
Elena Mena Ribas Department of Endocrinology & Nutrition, Hospital Universitario Son Espases, Islas Baleares, Spain

Search for other papers by Elena Mena Ribas in
Google Scholar
PubMed
Close
,
Alicia Sanmartín Sánchez Department of Endocrinology & Nutrition, Hospital Universitario Son Espases, Islas Baleares, Spain

Search for other papers by Alicia Sanmartín Sánchez in
Google Scholar
PubMed
Close
,
Cesar Gonzalvo Diaz Department of Endocrinology & Nutrition, Hospital Universitario De Albacete, Albacete, Spain

Search for other papers by Cesar Gonzalvo Diaz in
Google Scholar
PubMed
Close
,
Cristina Lamas Department of Endocrinology & Nutrition, Hospital Universitario De Albacete, Albacete, Spain

Search for other papers by Cristina Lamas in
Google Scholar
PubMed
Close
,
Raquel Guerrero-Vázquez Department of Endocrinology & Nutrition, Hospital Virgen de la Macarena, Sevilla, Spain

Search for other papers by Raquel Guerrero-Vázquez in
Google Scholar
PubMed
Close
,
María del Castillo Tous Department of Endocrinology & Nutrition, Hospital Virgen de la Macarena, Sevilla, Spain

Search for other papers by María del Castillo Tous in
Google Scholar
PubMed
Close
,
Joaquín Serrano Department of Endocrinology & Nutrition, Hospital General Universitario de Alicante, Alicante, Spain

Search for other papers by Joaquín Serrano in
Google Scholar
PubMed
Close
,
Theodora Michalopoulou Department of Endocrinology and Nutrition, Joan XXIII University Hospital, Tarragona, Spain

Search for other papers by Theodora Michalopoulou in
Google Scholar
PubMed
Close
,
Eva María Moya Mateo Internal Medicine, Hospital Infanta Leonor de Vallecas, Madrid, Spain

Search for other papers by Eva María Moya Mateo in
Google Scholar
PubMed
Close
, and
Felicia Hanzu Department of Endocrinology & Nutrition, Hospital Clinic, IDIPAS, Barcelona, Spain

Search for other papers by Felicia Hanzu in
Google Scholar
PubMed
Close

Purpose

The aim of this study was to evaluate the prevalence of autonomous cortisol secretion (ACS) in patients with primary aldosteronism (PA) and its implications on cardiometabolic and surgical outcomes.

Methods

This is a retrospective multicenter study of PA patients who underwent 1 mg dexamethasone-suppression test (DST) during diagnostic workup in 21 Spanish tertiary hospitals. ACS was defined as a cortisol post-DST >1.8 µg/dL (confirmed ACS if >5 µg/dL and possible ACS if 1.8–5 µg/dL) in the absence of specific clinical features of hypercortisolism. The cardiometabolic profile was compared with a control group with ACS without PA (ACS group) matched for age and DST levels.

Results

The prevalence of ACS in the global cohort of patients with PA (n = 176) was 29% (ACS–PA; n = 51). Ten patients had confirmed ACS and 41 possible ACS. The cardiometabolic profile of ACS–PA and PA-only patients was similar, except for older age and larger tumor size of the adrenal lesion in the ACS–PA group. When comparing the ACS–PA group (n = 51) and the ACS group (n = 78), the prevalence of hypertension (OR 7.7 (2.64–22.32)) and cardiovascular events (OR 5.0 (2.29–11.07)) was higher in ACS–PA patients than in ACS patients. The coexistence of ACS in patients with PA did not affect the surgical outcomes, the proportion of biochemical cure and clinical cure being similar between ACS–PA and PA-only groups.

Conclusion

Co-secretion of cortisol and aldosterone affects almost one-third of patients with PA. Its occurrence is more frequent in patients with larger tumors and advanced age. However, the cardiometabolic and surgical outcomes of patients with ACS–PA and PA-only are similar.

Open access
Sara Lomelino Pinheiro Serviço de Endocrinologia, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

Search for other papers by Sara Lomelino Pinheiro in
Google Scholar
PubMed
Close
,
Ana Saramago Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

Search for other papers by Ana Saramago in
Google Scholar
PubMed
Close
,
Branca Maria Cavaco Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

Search for other papers by Branca Maria Cavaco in
Google Scholar
PubMed
Close
,
Carmo Martins Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

Search for other papers by Carmo Martins in
Google Scholar
PubMed
Close
,
Valeriano Leite Serviço de Endocrinologia e Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

Search for other papers by Valeriano Leite in
Google Scholar
PubMed
Close
, and
Tiago Nunes da Silva Serviço de Endocrinologia e Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

Search for other papers by Tiago Nunes da Silva in
Google Scholar
PubMed
Close

Nineteen cases of parathyroid carcinoma in patients with multiple endocrine neoplasia type 1 have been reported in the literature, of which 11 carry an inactivating germline mutation in the MEN1 gene. Somatic genetic abnormalities in these parathyroid carcinomas have never been detected. In this paper, we aimed to describe the clinical and molecular characterization of a parathyroid carcinoma identified in a patient with MEN1. A 60-year-old man was diagnosed with primary hyperparathyroidism during the postoperative period of lung carcinoid surgery. Serum calcium and parathyroid hormone levels were 15.0 mg/dL (8.4–10.2) and 472 pg/mL (12–65), respectively. The patient underwent parathyroid surgery, and histological findings were consistent with parathyroid carcinoma. Analysis of the MEN1 gene by next-generation sequencing (NGS) identified a novel germline heterozygous nonsense pathogenic variant (c.978C>A; p.(Tyr326*)), predicted to encode a truncated protein. Genetic analysis of the parathyroid carcinoma revealed a c.307del, p.(Leu103Cysfs*16) frameshift truncating somatic MEN1 variant in the MEN1 gene, which is consistent with MEN1 tumor-suppressor role, confirming its involvement in parathyroid carcinoma etiology. Genetic analysis of CDC73, GCM2, TP53, RB1, AKT1, MTOR, PIK3CA and CCND1 genes in the parathyroid carcinoma DNA did not detect any somatic mutations. To our knowledge, this is the first report of a PC case presenting both germline (first-hit) and somatic (second-hit) inactivation of the MEN1 gene.

Open access
Laura Hasse Department of Pediatric Dermatology and Allergology, Children’s Hospital Auf der Bult, Hannover, Germany

Search for other papers by Laura Hasse in
Google Scholar
PubMed
Close
,
Dagmar Jamiolkowski Department of Pediatric Dermatology and Allergology, Children’s Hospital Auf der Bult, Hannover, Germany

Search for other papers by Dagmar Jamiolkowski in
Google Scholar
PubMed
Close
,
Felix Reschke Department of Pediatric Diabetology, Children’s Hospital Auf der Bult, Hannover, Germany

Search for other papers by Felix Reschke in
Google Scholar
PubMed
Close
,
Kerstin Kapitzke Department of Pediatric Diabetology, Children’s Hospital Auf der Bult, Hannover, Germany

Search for other papers by Kerstin Kapitzke in
Google Scholar
PubMed
Close
,
Jantje Weiskorn Department of Pediatric Diabetology, Children’s Hospital Auf der Bult, Hannover, Germany

Search for other papers by Jantje Weiskorn in
Google Scholar
PubMed
Close
,
Olga Kordonouri Department of Pediatric Diabetology, Children’s Hospital Auf der Bult, Hannover, Germany

Search for other papers by Olga Kordonouri in
Google Scholar
PubMed
Close
,
Torben Biester Department of Pediatric Diabetology, Children’s Hospital Auf der Bult, Hannover, Germany

Search for other papers by Torben Biester in
Google Scholar
PubMed
Close
, and
Hagen Ott Department of Pediatric Dermatology and Allergology, Children’s Hospital Auf der Bult, Hannover, Germany

Search for other papers by Hagen Ott in
Google Scholar
PubMed
Close

Objective

Little is known about specific cutaneous findings in children and adolescents with overweight and obesity. This study assessed the association of skin signs with pivotal auxological and endocrinological parameters and their influence on the quality of life (QoL) of young people with obesity.

Study design

All patients initially recruited for a tertiary hospital's weight control program were offered participation in this interdisciplinary, single-center, cross-sectional study. All participants underwent a detailed dermatological examination, anthropometric measurements and laboratory examinations. QoL was assessed with validated questionnaires.

Results

A total of 103 children and adolescents (age 11.6 ±2.5 years, 41% female, 25% prepubertal, BMI SDS 2.6 ± 0.5, homeostatic model assessment (HOMA) score 3.3 ± 4.2; mean ± s.d.) were recruited in a 12-month study period. Skin affections were linearly associated with increasing BMI and higher age. The most common skin findings were (%) striae distensae (71.0), keratosis pilaris (64.7), acanthosis nigricans (45.0), acne vulgaris (39.2), acrochordons (25.5) and plantar hyperkeratosis (17.6). The HOMA score was associated with acanthosis nigricans (P = 0.047), keratosis pilaris (P = 0.019) and acne vulgaris (P < 0.001). The general mean QoL(QoL) score, as assessed by the WHO-5, was 70 out of 100. A total of 38.9% of participants reported impaired dermatological QoL.

Conclusions

This study shows the high prevalence of skin lesions in children and adolescents with obesity. The association between skin lesions and the HOMA score indicates that skin manifestations are a marker of insulin resistance. To prevent secondary diseases and improve QoL, thorough skin examinations and interdisciplinary cooperation are necessary.

Open access
Ying-Lien Cheng Division of Endocrinology and Metabolism, Department of Internal Medicine, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan

Search for other papers by Ying-Lien Cheng in
Google Scholar
PubMed
Close
,
Ting-I Lee Division of Endocrinology and Metabolism, Department of Internal Medicine, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan
Division of Endocrinology and Metabolism, Department of Internal Medicine, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan

Search for other papers by Ting-I Lee in
Google Scholar
PubMed
Close
,
Yu-Mei Chien Division of Endocrinology and Metabolism, Department of Internal Medicine, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan

Search for other papers by Yu-Mei Chien in
Google Scholar
PubMed
Close
,
Ting-Wei Lee Division of Endocrinology and Metabolism, Department of Internal Medicine, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan
Division of Endocrinology and Metabolism, Department of Internal Medicine, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan

Search for other papers by Ting-Wei Lee in
Google Scholar
PubMed
Close
, and
Yi-Jen Chen Graduate Institute of Clinical Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan
Cardiovascular Research Center, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan
Taipei Heart Institute, Taipei Medical University, Taipei, Taiwan

Search for other papers by Yi-Jen Chen in
Google Scholar
PubMed
Close

Vitamin D deficiency is associated with hyperlipidemia, but it remains unclear whether vitamin D supplementation reduces serum lipid levels. The aims of this study were to investigate the associations between increased serum 25-hydroxyvitamin D (25(OH)D) concentrations and lipid levels and identify the characteristics of people with or without lipid reduction associated with increased 25(OH)D levels. The medical records of 118 individuals (53 men; mean age, 54.4 ± 10.6 years) whose serum 25(OH)D levels increased between 2 consecutive measurements were retrospectively reviewed. People with increased 25(OH)D levels (from 22.7 (17.6–29.2) to 32.1 (25.6–36.8) mg/dL; P < 0.01) had a significant reduction in serum levels of triglycerides (TGs) (from 111.0 (80–164) to 104.5 (73–142) mg/dL; P < 0.01) and total cholesterol (TC) (from 187.5 (155–213) to 181.0 (150–210) mg/dL; P < 0.05). The individuals who responded to vitamin D (≥10% reduction in TG or TC levels) exhibited significantly higher baseline TG and TC levels than those who did not. Only patients with hyperlipidemia (not those without hyperlipidemia) at baseline exhibited significantly reduced TG and TC levels at follow-up. However, increasing serum 25(OH)D concentrations were significantly correlated with decreasing lipid levels in individuals with baseline 25(OH)D levels less than 30 ng/mL and in individuals aged 50–65 years (not in patients younger than 50 years or older than 65 years). In conclusion, increasing serum 25(OH)D concentrations may be potentially helpful for the treatment of hyperlipidemia in people with vitamin D deficiency.

Open access
Caihong Xin Department of Endocrinology and Metabolism, The Fourth People’s Hospital of Shenyang, Shenyang, P.R. China

Search for other papers by Caihong Xin in
Google Scholar
PubMed
Close
,
Lijuan Niu Department of Endocrinology and Metabolism, The First Affiliated Hospital of Soochow University, Suzhou, P.R. China

Search for other papers by Lijuan Niu in
Google Scholar
PubMed
Close
,
Huaying Fan Department of Endocrinology and Metabolism, The First Affiliated Hospital of Soochow University, Suzhou, P.R. China

Search for other papers by Huaying Fan in
Google Scholar
PubMed
Close
,
Jing Xie Department of Endocrinology and Metabolism, The First Affiliated Hospital of Soochow University, Suzhou, P.R. China

Search for other papers by Jing Xie in
Google Scholar
PubMed
Close
, and
Xin Sun Department of Endocrinology and Metabolism, The First Affiliated Hospital of Soochow University, Suzhou, P.R. China

Search for other papers by Xin Sun in
Google Scholar
PubMed
Close

Background

Sarcoidosis is a multiple systemic granulomatous disease, and its main pathological feature is non-caseous necrotic epithelial granuloma. The pathogenesis is not fully understood. The prevalence of thyroid disease is likely higher among individuals with sarcoidosis. However, this association still lacks clinical evidence.

Objective

The aim of this study was to estimate the incidence of thyroid disease in patients with sarcoidosis.

Methods

A literature search was conducted using PubMed, Web of Science, Embase, and China National Knowledge Infrastructure literature databases. Fixed- or random-effects models were used for analysis according to heterogeneity. The results were subjected to meta-analysis with odds ratios (ORs) and corresponding 95% confidence intervals (CIs).

Results

In total, six articles were included in this meta-analysis, which involved 2044 sarcoidosis cases and 5652 controls. The studies found that the incidence of thyroid disease in patients with sarcoidosis was significantly increased compared to the controls (OR 3.28, 95% CI 1.83–5.88).

Conclusions

This systematic review is the first to evaluate the incidence of thyroid disease in sarcoidosis patients, which was increased compared with the controls, suggesting that sarcoidosis patients should be screened for thyroid disease.

Open access
Helene Bandsholm Leere Tallaksen Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Helene Bandsholm Leere Tallaksen in
Google Scholar
PubMed
Close
,
Emma B Johannsen Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Emma B Johannsen in
Google Scholar
PubMed
Close
,
Jesper Just Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Jesper Just in
Google Scholar
PubMed
Close
,
Mette Hansen Viuff Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Gynaecology and Obstetrics, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Mette Hansen Viuff in
Google Scholar
PubMed
Close
,
Claus H Gravholt Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Claus H Gravholt in
Google Scholar
PubMed
Close
, and
Anne Skakkebæk Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Anne Skakkebæk in
Google Scholar
PubMed
Close

Sex chromosome abnormalities (SCAs) are chromosomal disorders with either a complete or partial loss or gain of sex chromosomes. The most frequent SCAs include Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Trisomy X syndrome (47,XXX), and Double Y syndrome (47,XYY). The phenotype seen in SCAs is highly variable and may not merely be due to the direct genomic imbalance from altered sex chromosome gene dosage but also due to additive alterations in gene networks and regulatory pathways across the genome as well as individual genetic modifiers. This review summarizes the current insight into the genomics of SCAs. In addition, future directions of research that can contribute to decipher the genomics of SCA are discussed such as single-cell omics, spatial transcriptomics, system biology thinking, human-induced pluripotent stem cells, and animal models, and how these data may be combined to bridge the gap between genomics and the clinical phenotype.

Open access
Alan D Rogol Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA

Search for other papers by Alan D Rogol in
Google Scholar
PubMed
Close

The overall incidence of sex chromosome aneuploidies is approximately 1 per 500 live-born infants, but far more common at conception. I shall review the fertility aspects of the sex chromosome trisomies, XXY, XYY, and XXX, with special reference to the karyotype 45,X/47,XXX. Each has a ‘specific’ (but variable) phenotype but may be modified by mosaicism. Although the alterations in the hypothalamic–pituitary–gonadal axis are important (and discussed), the emphasis here is on potential fertility and if one might predict that at various epochs within an individual’s life span: fetal, ‘mini’-puberty, childhood, puberty, and adulthood. The reproductive axis is often affected in females with the 47,XXX karyotype with diminished ovarian reserve and accelerated loss of ovarian function. Fewer than 5% of females with Turner syndrome have the 45,X/47,XXX karyotype. They have taller stature and less severe fertility issues compared to females with the 45,X or other forms of Turner syndrome mosaicism. For the 47,XXY karyotype, non-obstructive azoospermia is almost universal with sperm retrieval by micro-testicular sperm extraction possible in slightly fewer than half of the men. Men with the 47,XYY karyotype have normal to large testes and much less testicular dysfunction than those with the 47,XXY karyotype. They do have a slight increase in infertility compared to the reference population but not nearly as severe as those with the 47,XXY karyotype. Assisted reproductive technology, especially micro-testicular sperm extraction, has an important role, especially for those with 47,XXY; however, more recent data show promising techniques for the in vitro maturation of spermatogonial stem cells and 3D organoids in culture. Assisted reproductive technology is more complex for the female, but vitrification of oocytes has shown promising advances.

Open access
Rama Lakshman Wellcome-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, UK

Search for other papers by Rama Lakshman in
Google Scholar
PubMed
Close
,
Charlotte Boughton Wellcome-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, UK
Cambridge University Hospitals NHS Foundation Trust, Wolfson Diabetes and Endocrine Clinic, Cambridge, UK

Search for other papers by Charlotte Boughton in
Google Scholar
PubMed
Close
, and
Roman Hovorka Wellcome-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, UK

Search for other papers by Roman Hovorka in
Google Scholar
PubMed
Close

Automated insulin delivery systems, also known as closed-loop or ‘artificial pancreas’ systems, are transforming the management of type 1 diabetes. These systems consist of an algorithm which responds to real-time glucose sensor levels by automatically modulating insulin delivery through an insulin pump. We review the rapidly changing landscape of automated insulin-delivery systems over recent decades, from initial prototypes to the different hybrid closed-loop systems commercially available today. We discuss the growing body of clinical trials and real-world evidence demonstrating their glycaemic and psychosocial benefits. We also address future directions in automated insulin delivery such as dual-hormone systems and adjunct therapy as well as the challenges around ensuring equitable access to closed-loop technology.

Open access
Dongyan Han Department of Pathology, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China

Search for other papers by Dongyan Han in
Google Scholar
PubMed
Close
,
Min Ding Department of General Surgery, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

Search for other papers by Min Ding in
Google Scholar
PubMed
Close
,
Rongli Xie Department of General Surgery, RuiJin Hospital Lu Wan Branch, Shanghai Jiaotong University School of Medicine, Shanghai, China

Search for other papers by Rongli Xie in
Google Scholar
PubMed
Close
,
Zhengshi Wang Thyroid Center, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China
Shanghai Center of Thyroid Diseases, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China

Search for other papers by Zhengshi Wang in
Google Scholar
PubMed
Close
,
Guohui Xiao Department of General Surgery, Pancreatic Disease Center, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

Search for other papers by Guohui Xiao in
Google Scholar
PubMed
Close
,
Xiaohong Wang Shanghai Rigen Biotechnology Co., Ltd. Shanghai, China

Search for other papers by Xiaohong Wang in
Google Scholar
PubMed
Close
,
Lei Dong Department of Pathology, Shanghai Rui Jin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

Search for other papers by Lei Dong in
Google Scholar
PubMed
Close
,
Zhiqiang Yin Thyroid Center, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China
Shanghai Center of Thyroid Diseases, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China

Search for other papers by Zhiqiang Yin in
Google Scholar
PubMed
Close
, and
Jian Fei Department of General Surgery, Pancreatic Disease Center, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Research Institute of Pancreatic Diseases, Shanghai Jiao Tong University School of Medicine, Shanghai, China
State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute, Shanghai Jiao Tong University, Shanghai, China
Institute of Translational Medicine, Shanghai Jiao Tong University, Shanghai, China

Search for other papers by Jian Fei in
Google Scholar
PubMed
Close

Thyroid fine needle aspiration biopsy (FNAB) remains indeterminate in 16–24% of the cases. Molecular testing could improve the diagnostic accuracy of FNAB. This study examined the gene mutation profile of patients with thyroid nodules and analyzed the diagnostic ability of molecular testing for thyroid nodules using a self-developed 18-gene test. Between January 2019 and August 2021, 513 samples (414 FNABs and 99 formalin-fixed paraffin-embedded (FFPE) specimens) underwent molecular testing at Ruijin Hospital. Sensitivity (Sen), specificity (Spe), positive predictive value (PPV), negative predictive value (NPV), and accuracy were calculated. There were 457 mutations in 428 samples. The rates of BRAF, RAS, TERT promoter, RET/PTC, and NTRK3 fusion mutations were 73.3% (n = 335), 9.6% (n = 44), 2.8% (n = 13), 4.8% (n = 22), and 0.4% (n = 2), respectively. The diagnostic ability of cytology and molecular testing were evaluated in Bethesda II and V–VI samples. For cytology alone, Sen, Spe, PPV, NPV, and accuracy were 100%, 25.0%, 97.4%, 100%, and 97.4%; these numbers were 87.5%, 50.0%, 98.0%, 12.5%, and 86.2% when considering positive mutation, and 87.5%, 75.0%, 99.0%, 17.6%, and 87.1% when considering positive cytology or and positive mutation. In Bethesda III–IV nodules, when relying solely on the presence of pathogenic mutations for diagnosis, Sen, Spe, PPV, NPV, and AC were 76.2%, 66.7%, 94.1%, 26.8%, and 75.0%, respectively. It might be necessary to analyze the molecular mechanisms of disease development at the genetic level to predict patients with malignant nodules more accurately in different risk strata and develop rational treatment strategies and definite management plans.

Open access
Chiara Jongerius Amsterdam UMC, Location AMC, Medical Psychology, Amsterdam, The Netherlands
Amsterdam Public Health, Quality of Care, Amsterdam, The Netherlands

Search for other papers by Chiara Jongerius in
Google Scholar
PubMed
Close
,
Marij A Hillen Amsterdam UMC, Location AMC, Medical Psychology, Amsterdam, The Netherlands
Amsterdam Public Health, Quality of Care, Amsterdam, The Netherlands

Search for other papers by Marij A Hillen in
Google Scholar
PubMed
Close
,
Ellen M A Smets Amsterdam UMC, Location AMC, Medical Psychology, Amsterdam, The Netherlands
Amsterdam Public Health, Quality of Care, Amsterdam, The Netherlands

Search for other papers by Ellen M A Smets in
Google Scholar
PubMed
Close
,
Mathijs J Mol Amsterdam UMC, Location AMC, Medical Psychology, Amsterdam, The Netherlands

Search for other papers by Mathijs J Mol in
Google Scholar
PubMed
Close
,
Eefje S Kooij Amsterdam UMC, Location AMC, Medical Psychology, Amsterdam, The Netherlands

Search for other papers by Eefje S Kooij in
Google Scholar
PubMed
Close
,
Maria A de Nood Amsterdam UMC, Location AMC, Medical Psychology, Amsterdam, The Netherlands

Search for other papers by Maria A de Nood in
Google Scholar
PubMed
Close
,
Edwin S Dalmaijer MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, United Kingdom

Search for other papers by Edwin S Dalmaijer in
Google Scholar
PubMed
Close
,
Eric Fliers Department of Endocrinology & Metabolism, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, Location AMC, Amsterdam, The Netherlands

Search for other papers by Eric Fliers in
Google Scholar
PubMed
Close
,
Johannes A Romijn Department of Medicine, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, Location AMC, Amsterdam, The Netherlands

Search for other papers by Johannes A Romijn in
Google Scholar
PubMed
Close
, and
Daniel S Quintana University of Oslo, Department of Psychology, Oslo, Norway
Department of Rare Disorders and Disabilities, Oslo University Hospital, NevSom, Oslo, Norway
University of Oslo, Norwegian Centre for Mental Disorders Research (NORMENT) and KG Jebsen Centre for Neurodevelopmental Disorders, Oslo, Norway

Search for other papers by Daniel S Quintana in
Google Scholar
PubMed
Close

The patient–physician relationship is a critical determinant of patient health outcomes. Verbal and non-verbal communication, such as eye gaze, are vital aspects of this bond. Neurobiological studies indicate that oxytocin may serve as a link between increased eye gaze and social bonding. Therefore, oxytocin signaling could serve as a key factor influencing eye gaze as well as the patient–physician relationship. We aimed to test the effects of oxytocin on gaze to the eyes of the physician and the patient–physician relationship by conducting a randomized placebo-controlled crossover trial in healthy volunteers with intranasally administered oxytocin (with a previously effective single dose of 24 IU, EudraCT number 2018-004081-34). The eye gaze of 68 male volunteers was studied using eye tracking during a simulated video call consultation with a physician, who provided information about vaccination against the human papillomavirus. Relationship outcomes, including trust, satisfaction, and perceived physician communication style, were measured using questionnaires and corrected for possible confounds (social anxiety and attachment orientation). Additional secondary outcome measures for the effect of oxytocin were recall of information and pupil diameter and exploratory outcomes included mood and anxiety measures. Oxytocin did not affect the eye-tracking parameters of volunteers’ gaze toward the eyes of the physician. Moreover, oxytocin did not affect the parameters of bonding between volunteers and the physician nor other secondary and exploratory outcomes in this setting. Bayesian hypothesis testing provided evidence for the absence of effects. These results contradict the notion that oxytocin affects eye gaze patterns or bonding.

Open access