Signe Sparre Beck‐Nielsen

ORCID: 0000-0002-7561-9217
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About
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Research Areas
  • Parathyroid Disorders and Treatments
  • Bone health and treatments
  • Vitamin D Research Studies
  • Bone health and osteoporosis research
  • Magnesium in Health and Disease
  • Birth, Development, and Health
  • Pregnancy and Medication Impact
  • Infant Nutrition and Health
  • Neonatal Respiratory Health Research
  • Pregnancy and preeclampsia studies
  • Breastfeeding Practices and Influences
  • Genetic Syndromes and Imprinting
  • Folate and B Vitamins Research
  • Bone and Joint Diseases
  • Orthopaedic implants and arthroplasty
  • Diet and metabolism studies
  • Metabolism and Genetic Disorders
  • Clinical Nutrition and Gastroenterology
  • Bone and Dental Protein Studies
  • Bone Metabolism and Diseases
  • Vitamin C and Antioxidants Research
  • Connective tissue disorders research
  • Sexual Differentiation and Disorders
  • Obesity, Physical Activity, Diet
  • Orthodontics and Dentofacial Orthopedics

Aarhus University Hospital
2019-2025

Aarhus University
2022-2025

Lillebaelt Hospital
2017-2019

University of Southern Denmark
2010-2019

Kolding Hospital
2017-2019

Hospital South West Jutland
2008-2018

Odense University Hospital
2006-2017

Center for Clinical Research (United States)
2015

Kongsberg Innovasjon (Norway)
2013

von Hippel Lindau disease (vHL) is caused by a hereditary predisposition to multiple neoplasms, especially hemangioblastomas in the retina and CNS, renal cell carcinomas (RCC), pheochromocytomas, neuroendocrine pancreatic tumours (PNET) endolymphatic sac tumours. Evidence based approaches are needed ensure an optimal clinical care, while minimizing burden for patients their families. This guideline on evidence from international vHL literature extensive research of geno- phenotypic...

10.1016/j.ejmg.2022.104538 article EN cc-by European Journal of Medical Genetics 2022-06-14

To estimate the incidence of nutritional rickets and prevalence hereditary rickets.Population-based retrospective cohort study based on a review medical records.Patients aged 0-14.9 years referred to or discharged from hospitals in southern Denmark 1985 2005 with diagnosis were identified by register search, their records retrieved. Patients fulfilling diagnostic criteria primary included.We 112 patients whom 74% immigrants. From 1995 2005, average children 0-2.9 was 2.9 5.8 per 100,000 year...

10.1530/eje-08-0818 article EN European Journal of Endocrinology 2008-12-19

There is substantial evidence of a negative impact maternal chronic disease during pregnancy on reproductive outcomes. Knowledge the prevalence diseases limited, but essential for focused preventive effort regarding optimal control pregnancy. We aimed to analyze pregnancy.This register-based cohort study included all women giving birth in Denmark between 1989 and 2013 based data from Danish health registers. Maternal 23 categories both physical mental conditions recorded within period 10...

10.1111/aogs.13007 article EN Acta Obstetricia Et Gynecologica Scandinavica 2016-08-25

In pregnancy, vitamin D insufficiency and deficiency, defined as serum 25-hydroxyvitamin (25(OH)D) <50 nM, <25 respectively, may have adverse effects for both mother child. Prevalence estimates, identification of subgroups at special risk, be useful the planning preventive strategies.To study prevalence risk factors hypovitaminosis in early pregnancy.In a cross-sectional 1348 women pregnancy from Odense Child Cohort, Denmark, 25(OH)D was determined correlated to demographic lifestyle...

10.1111/cen.12147 article EN Clinical Endocrinology 2013-01-11

X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by pathological increase in FGF23 concentration and activity. Due to its rarity, diagnosis may be delayed, which can adversely affect outcomes. As chronic disease resulting progressive accumulation of musculoskeletal manifestations, it important understand the natural history XLH over patient's lifetime impact drug treatments other interventions. This multicentre, international...

10.1186/s13023-023-02882-4 article EN cc-by Orphanet Journal of Rare Diseases 2023-09-27

Abstract Background An International Working Group (IWG) developed new guidelines on the diagnosis, evaluation, management, and monitoring of X-linked hypophosphatemia (XLH) in children. Over past 5 years, important advances have occurred our understanding presentation, complications treatment XLH. Methods A group 50 international experts XLH from Canada, United States, Europe, Asia South America, along with methodology patient partners, held 18 teleconference meetings 2023-2024. These...

10.1210/clinem/dgaf093 article EN cc-by-nc-nd The Journal of Clinical Endocrinology & Metabolism 2025-02-17

Abstract Objective Hereditary hypophosphatemic disorders such as X-linked hypophosphatemia (XLH) are rare phosphate wasting that cause abnormal bone mineralization, which manifests deformities and dental problems. Pain, stiffness, fatigue the main symptoms reported by adult patients with XLH, interfering their quality of life activities daily living. Here, we provide a comprehensive evaluation pain health related in XLH. Design methods In this cross-sectional study, forty-nine XLH forty-two...

10.1210/clinem/dgaf104 article EN publisher-specific-oa The Journal of Clinical Endocrinology & Metabolism 2025-02-18

This report provides recommendations for XLH monitoring based on current practices of experts in the management children (<18 years) and adults. We surveyed 43 to determine their adults with XLH, including pregnant lactating women. In initial evaluation consistently obtain family history, fracture history dental infections. They measure height, weight, blood pressure conduct DNA analysis multiple genes PHEX gene. For follow-up, arrange follow-up every 3-6 months assessing examining skeletal...

10.1210/clinem/dgaf180 article EN cc-by-nc-nd The Journal of Clinical Endocrinology & Metabolism 2025-03-20

ABSTRACT Hypophosphatemic rickets (HR) is characterized by a generalized mineralization defect. Although densitometric studies have found the patients to an elevated bone mineral density (BMD), data on geometry and microstructure are scarce. The aim of this cross-sectional in vivo study was assess geometry, volumetric BMD (vBMD), microarchitecture, estimated strength adult with HR using high-resolution peripheral quantitative computed tomography (HR-pQCT). Twenty-nine (aged 19 79 years; 21...

10.1002/jbmr.2310 article EN Journal of Bone and Mineral Research 2014-07-10

Abstract Background X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration activity; XLH has an incidence of approximately 1 20–25,000 individuals. Excess FGF23 activity leads to increased excretion the kidneys – mediated downregulation renal tubular transporters reduced absorption intestines due impaired vitamin D activation. This results bone...

10.1186/s13023-020-01434-4 article EN cc-by Orphanet Journal of Rare Diseases 2020-06-30

Abstract X‐linked hypophosphataemia (XLH) and osteogenesis imperfecta (OI) are rare congenital disorders characterised by skeletal dysplasia. The two may include dental anomalies potentially affecting individual well‐being. aims of study were (a) to assess the oral health‐related quality life (OHRQoL) in Danish adults with XLH or OI, (b) compare results groups. A cross‐sectional including 35 XLH, 56 OI type I 17 types III‐IV was conducted. OHRQoL assessed 49‐item version questionnaire Oral...

10.1111/joor.13114 article EN cc-by-nc Journal of Oral Rehabilitation 2020-10-15

Abstract Context Denosumab is an effective treatment for many receptor activator of nuclear factor kappa-B ligand (RANKL)-mediated disorders but there are potential safety considerations and limited data to guide its use in children adolescents. Objective This document seeks summarize the evidence provide expert opinion on safe appropriate denosumab pediatric RANKL-mediated disorders. Participants Ten experts bone mineral medicine from 6 countries with experience participated creation this...

10.1210/clinem/dgad657 article EN cc-by The Journal of Clinical Endocrinology & Metabolism 2023-12-02

Summary Hypophosphatemic rickets (HR) is a rare hereditary disease in which dental problems terms of spontaneous periapical infections are frequently reported. Most previous reports have been based on small number HR patients and published before the could be confirmed genetically. The aim present study was to describe endodontic status permanent teeth with genetically and/or biochemically HR. were recruited from medical patients. underwent examination including digital panoramic radiograph,...

10.1111/j.1365-2842.2011.02250.x article EN Journal of Oral Rehabilitation 2011-09-08
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