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Natacha Driessens Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (HUB), CUB Hôpital Erasme, Department of Endocrinology, Route de Lennik, Brussels, Belgium

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Madhu Prasai Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (HUB), CUB Hôpital Erasme, Department of Endocrinology, Route de Lennik, Brussels, Belgium

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Orsalia Alexopoulou Department of Endocrinology, Cliniques Universitaires Saint Luc, Brussels, Belgium

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Christophe De Block Department of Endocrinology-Diabetology-Metabolism, Universitair Ziekenhuis Antwerpen & University of Antwerp, Drie Eikenstraat, Edegem, Belgium

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Eva Van Caenegem Department of Endocrinology, Academisch Ziekenhuis Sint-Jan Brugge – Oostende AV, Ruddershove, Brugge, Belgium

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Guy T’Sjoen Department of Endocrinology, Ghent Universitary Hospital, C. Heymanslaan, Gent, Belgium

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Frank Nobels Department of Endocrinology, Onze-Lieve Vrouw Ziekenhuis, Moorselbaan, Aalst, Belgium

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Christophe Ghys Department of Endocrinology, Universitair Ziekenhuis Brussel, Laarbeeklaan, Brussels, Belgium

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Laurent Vroonen Department of Endocrinology, Cliniques Universitaires de Liège, Avenue de l’hôpital, Liège, Belgium

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Corinne Jonas Department of Endocrinology, CHU UCL Namur - Godinne, Avenue Docteur Gaston Thérasse, Yvoir, Belgium

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Bernard Corvilain Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (HUB), CUB Hôpital Erasme, Department of Endocrinology, Route de Lennik, Brussels, Belgium

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Dominique Maiter Department of Endocrinology, Cliniques Universitaires Saint Luc, Brussels, Belgium

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nonetheless remains important to pursue the collection of detailed data in PAI due to the rarity of the condition and limited published data. In conclusion, this national survey of 200 patients represents the first characterisation of PAI in Belgium and

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Guang-Ran Yang Department of Endocrinology, Beijing Tongren Hospital, Capital Medical University, Beijing, China

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Dongmei Li Clinical and Translational Science Institute, School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, New York, USA

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Zidian Xie Clinical and Translational Science Institute, School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, New York, USA

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Objective

There is a lack of consensus on whether a high BMI increases the risk of diabetic retinopathy (DR). We aimed to investigate the association between BMI, overweight, obesity, and DR using the data of diabetes respondents in the 2015 US Behavioral Risk Factor Surveillance System survey.

Methods

Diabetes respondents aged over 18-year-old with complete information as well as undergone fundus examination in the past 2 years or had been diagnosed with DR were included. Weighted logistic regression analyses were used to identify the association of BMI with DR.

Results

Among the 21,647 diabetes respondents, 4588 respondents had DR with a weighted prevalence of 22.5%. The mean BMI of all diabetes respondents was 31.50 ± 6.95 kg/m2 with 18,498 (86.5%) overweight and 11,353 (54.6%) obese. The mean BMI of the DR group (31.83 ± 7.41 kg/m2) was significantly higher than that of the non-DR group (31.41 ± 6.81 kg/m2, P < 0.05). The proportion of obese respondents in the DR group was higher than the non-DR group (54.3%, P < 0.001). The weighted prevalence of DR was 0.8, 13.8, 29.7, and 55.7% for the emaciation group, the normal weight group, the overweight group, and the obesity group, respectively (P < 0.001). Weighted logistic regression analysis showed that both BMI (adjusted OR = 1.004, 95% CI 1.003–1.004) and obesity (adjusted OR = 1.051, 95% CI 1.048–1.055) were associated with DR after adjusting for the confounding variables. However, overweight was not significantly associated with DR.

Conclusion

The prevalence of DR in the normal weight, overweight, and obesity groups increased gradually. Obesity, rather than overweight, was significantly associated with increased DR prevalence.

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Marianne C Astor Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway
Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Kristian Løvås Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway
Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Anette S B Wolff Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Bjørn Nedrebø Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Eirik Bratland Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Jon Steen-Johnsen Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Eystein S Husebye Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway
Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Primary hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disorder characterized by neuromuscular symptoms in infancy due to extremely low levels of serum magnesium and moderate to severe hypocalcemia. Homozygous mutations in the magnesium transporter gene transient receptor potential cation channel member 6 (TRPM6) cause the disease. HSH can be misdiagnosed as primary hypoparathyroidism. The aim of this study was to describe the genetic, clinical and biochemical features of patients clinically diagnosed with HSH in a Norwegian cohort. Five patients in four families with clinical features of HSH were identified, including one during a national survey of hypoparathyroidism. The clinical history of the patients and their families were reviewed and gene analyses of TRPM6 performed. Four of five patients presented with generalized seizures in infancy and extremely low levels of serum magnesium accompanied by moderate hypocalcemia. Two of the patients had an older sibling who died in infancy. Four novel mutations and one large deletion in TRPM6 were identified. In one patient two linked homozygous mutations were located in exon 22 (p.F978L) and exon 23 (p.G1042V). Two families had an identical mutation in exon 25 (p.E1155X). The fourth patient had a missense mutation in exon 4 (p.H61N) combined with a large deletion in the C-terminal end of the gene. HSH is a potentially lethal condition that can be misdiagnosed as primary hypoparathyroidism. The diagnosis is easily made if serum magnesium is measured. When treated appropriately with high doses of oral magnesium supplementation, severe hypomagnesemia is uncommon and the long-term prognosis seems to be good.

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Mateo Amaya-Montoya School of Medicine, Universidad de los Andes, Bogotá, Colombia

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Daniela Duarte-Montero School of Medicine, Universidad de los Andes, Bogotá, Colombia

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Luz D Nieves-Barreto School of Medicine, Universidad de los Andes, Bogotá, Colombia

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Angélica Montaño-Rodríguez School of Medicine, Universidad de los Andes, Bogotá, Colombia

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Eddy C Betancourt-Villamizar Team Foods, Bogotá, Colombia

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María P Salazar-Ocampo School of Medicine, Universidad de los Andes, Bogotá, Colombia

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Carlos O Mendivil School of Medicine, Universidad de los Andes, Bogotá, Colombia
Fundación Santa Fe de Bogotá, Section of Endocrinology, Bogotá, Colombia

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, skeletal growth during childhood, reaching peak bone mass, and continuous bone remodeling throughout adulthood ( 3 , 4 , 5 ). Several large, national surveys undertaken in Asia ( 6 , 7 ), North America ( 8 , 9 , 10 ), Europe ( 11 , 12 , 13 ), and

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Fang Lv Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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Xiaoling Cai Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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Chu Lin Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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Tianpei Hong Department of Endocrinology and Metabolism, Peking University Third Hospital, Beijing, China

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Xiaomei Zhang Department of Endocrinology, Peking University International Hospital, Beijing, China

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Zhufeng Wang Department of Endocrinology and Metabolism, China Academy of Traditional Chinese Medicine Guanganmen Hospital, Beijing, China

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Huifang Xing Department of Endocrinology and Metabolism, Beijing Mentougou Hospital, Beijing, China

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Guizhi Zong Department of Endocrinology and Metabolism, Beijing Jingmei Group General hospital, Beijing, China

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Juming Lu Department of Endocrinology, Chinese PLA General Hospital, Beijing, China

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Xiaohui Guo Department of Endocrinology, Peking University First Hospital, Beijing, China

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Jing Wu Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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Leili Gao Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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Xianghai Zhou Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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Xueyao Han Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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Linong Ji Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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D by using hospital-based national survey data sources with 811,264 adult participants. Patients with higher BMI had relatively worse metabolic markers, including blood pressure and lipids profiles. Trends in the prevalence of obesity with age

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Kaiyu Pan Department of Paediatrics, The First People's Hospital of Xiaoshan District, Hangzhou, Zhejiang, China

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Chengyue Zhang Xiangya School of Medicine, Central South University, Changsha, Hunan, China

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Xiaocong Yao Department of Osteoporosis, The First People's Hospital of Xiaoshan District, Hangzhou, Zhejiang, China

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Zhongxin Zhu Institute of Orthopaedics and Traumatology of Zhejiang Chinese Medical University, Hangzhou, Zhejiang, China

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Examination Survey (NHANES) database. Methods Study population NHANES is the only national survey that provides a cross-sectional picture of nutrition and health in the US population. Its data is collected by the National Center for Health

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Kevin D Cashman Cork Centre for Vitamin D and Nutrition Research, School of Food and Nutritional Sciences, University College Cork, Cork, Ireland

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to ~6.8 million N-H blacks, ~4.1 million N-H whites, ~3.2 million Hispanics and ~1.2 million N-H Asians with serum 25(OH)D concentrations <30 nmol/L. Figure 1 The prevalence of serum 25(OH)D < 30 nmol/L in the national surveys in the USA and

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Xiaomei Zhang Department of Endocrinology, Peking University International Hospital, Beijing, China

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Zhangrong Xu Diabetes Center, Characteristic Medical Center of Strategic Support Force, Beijing, China

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Xingwu Ran Department of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, China

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Linong Ji Department of Endocrinology, Peking University International Hospital, Beijing, China
Department of Endocrinology and Metabolism, Peking University People’s Hospital, Beijing, China

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this tool, especially at the primary care level. A national survey in China has revealed that only one-third of patients with diabetes had regular examination of the eyes ( 35 ). The risk score model developed in this study includes simple clinical

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Bruno Donadille Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Muriel Houang Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Irène Netchine Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France

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Jean-Pierre Siffroi Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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Sophie Christin-Maitre Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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Drui D Christin-Maitre S Galland F , et al . Clinical outcome, hormonal status, gonadotrope axis, and testicular function in 219 adult men born with classic 21-hydroxylase deficiency. A French national survey . Journal of Clinical Endocrinology and

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Anne Bachelot Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
UPMC Univ, Paris, France

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Magaly Vialon Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France

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Amandine Baptiste AP-HP, Clinical Research Unit Paris Descartes Necker Cochin, Paris, France

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Isabelle Tejedor Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France

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Caroline Elie AP-HP, Clinical Research Unit Paris Descartes Necker Cochin, Paris, France

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Michel Polak Department of Pediatric Endocrinology, Gynecology and Diabetology, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et Centre des pathologies gynécologiques Rares, Hôpital Universitaire Necker Enfants malades, Paris, France
Université Paris Descartes, Paris, France

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Philippe Touraine Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
UPMC Univ, Paris, France

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the CRMERC study group
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F Kerlan V Pascal-Vigneron V Drui D Christin-Maitre S Galland F Clinical outcome, hormonal status, gonadotrope axis, and testicular function in 219 adult men born with classic 21-Hydroxylase deficiency. A French national survey

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