Publications by authors named "Signe Beck-Nielsen"
Article Synopsis
- The study aimed to evaluate the most reliable evidence for managing X-linked hypophosphatemia (XLH) in adults to help shape treatment recommendations.
- After reviewing over 4,000 records, only one clinical trial and two observational studies met the criteria, showing that burosumab likely helps with pain from fractures but has a limited effect on other symptoms like fatigue and stiffness.
- There are currently no strong comparisons between burosumab and conventional treatments, highlighting a significant gap in data regarding their long-term effectiveness on important patient outcomes.
Article Synopsis
- - X-linked hypophosphatemia (XLH) is a rare disorder caused by high levels of FGF23, leading to phosphate loss and decreased vitamin D production, while burosumab is a treatment that helps restore phosphate levels by inhibiting FGF23.
- - This post-authorization safety study (PASS) monitors the long-term safety of burosumab in children and adolescents aged 1-17 years, with this first interim analysis focusing on the initial safety outcomes based on registry data.
- - The analysis involved 67 participants, with 37.3% reporting at least one adverse event, primarily musculoskeletal issues; however, there were no serious adverse events or treatment withdrawals, indicating that the safety profile of
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Laura Krogh Herlin Morten Krogh Herlin Jenny Blechingberg Kirsten Rønholt Lise Graversen Signe Sparre Beck-Nielsen
Eur J Med Genet
June 2024
Article Synopsis
- Tricho-rhino-phalangeal syndrome (TRPS) is a rare malformation syndrome with unique facial, ectodermal, and skeletal traits, categorized into different types based on genetic causes.
- A study at Aarhus University Hospital analyzed 15 patients with TRPS type I, highlighting a median age of diagnosis at 15 years and a follow-up period of 10 years, revealing a prevalence of 0.5 in 100,000 individuals.
- Common symptoms included fine hair, distinctive facial features, joint complaints, and skeletal anomalies, with no clear link between specific genetic mutations and the clinical symptoms, underscoring the importance of multidisciplinary care for effective diagnosis and management.
Article Synopsis
- Denosumab is a widely-used treatment for RANKL-mediated disorders but has safety concerns, especially in children and adolescents due to limited data.
- A panel of ten pediatric bone and mineral medicine experts from six countries has provided insights and recommendations based on available evidence and their clinical experience.
- While Denosumab can be effective, it's important to combine it with other treatments and carefully plan treatment goals to manage potential risks, highlighting the need for more research on optimal use.
Article Synopsis
- X-linked hypophosphatemia (XLH) is a rare genetic disorder that causes phosphate wasting in the kidneys and is linked to increased levels of the hormone FGF23; its rarity can lead to delayed diagnosis, worsening patient outcomes.
- The International XLH Registry was launched in 2017 to gather data on XLH patients of all ages, with an interim analysis reporting on 579 participants as of March 2021, highlighting a longer diagnosis time for older adults compared to children.
- Data collected included family histories and genetic testing, revealing that a significant proportion of patients had biological relatives also affected by XLH, while most had a confirmed genetic mutation related to the disorder.
Article Synopsis
- - A prepubertal girl was diagnosed with a giant cell tumour in her sacrum; surgery couldn't fully remove the tumour, leading to further treatment attempts.
- - Initial treatment with Zoledronate did not prevent the tumour from regrowing, prompting a switch to denosumab despite concerns about its use in growing children.
- - After 21 months of denosumab treatment, the tumour size decreased and stabilized, alleviating the girl's pain while causing mild side effects like low calcium levels and changes in newly formed bone.
Article Synopsis
- X-linked hypophosphataemia (XLH) is a rare genetic disorder characterized by elevated FGF23 levels, leading to phosphate-wasting and various bone-related issues.
- Traditional treatments like oral phosphate and vitamin D supplements don't fully address the root causes or all symptoms of the disease.
- A new study (PASS) is assessing the long-term safety of burosumab, a monoclonal antibody treatment for XLH, using data from a global registry over the next decade.
Article Synopsis
- von Hippel Lindau disease (vHL) is a hereditary condition leading to various tumors, including those in the retina, brain, kidneys, and pancreas; effective clinical care is crucial for patients and their families.* -
- Diagnosis primarily involves clinical criteria, but genetic testing for VHL variants can support the diagnosis; early surveillance starting in childhood is essential for those at risk, focusing on multiple organ systems.* -
- Treatment strategies primarily emphasize surgery, with new FDA-approved options like belzutifan for certain vHL-related tumors; collaboration among experts and ongoing research are key to improving patient outcomes.*
Article Synopsis
- X-linked hypophosphataemia (XLH) and osteogenesis imperfecta (OI) are rare bone disorders that affect oral health-related quality of life (OHRQoL) in adults, with XLH showing more severe impacts compared to OI.
- A study involving 108 adults (35 with XLH, 56 with OI type I, and 17 with OI types III-IV) assessed their OHRQoL using the Oral Health Impact Profile (OHIP) questionnaire, revealing significant differences in median scores across various domains.
- The results indicated that adults with XLH reported worse OHRQoL in areas like functional limitation, pain, and psychological issues, with notable percentages of severe impact, whereas
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 and activity; XLH has an incidence of approximately 1 in 20-25,000 individuals. Excess FGF23 activity leads to increased phosphate excretion in the kidneys - mediated by downregulation of renal tubular phosphate transporters - and reduced phosphate absorption in the intestines - due to impaired vitamin D activation. This results in impaired bone growth and mineralisation, short and disproportionate stature, leg bowing, musculoskeletal pain, spontaneous dental abscesses, rickets, and osteomalacia.
View Article and Find Full Text PDFThere is growing evidence that TP63 is associated with isolated as well as syndromic premature ovarian insufficiency (POI). We report two adolescent sisters diagnosed with undetectable ovaries, uterine hypoplasia, and mammary gland hypoplasia. A novel paternally inherited nonsense variant in TP63 [NM_003722.
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- Standard treatment for hypophosphatemic rickets (HR) involves oral phosphate tablets and vitamin D, but the rapid absorption of these tablets requires multiple daily doses, which can lead to fluctuations in phosphate levels and other complications.
- A study was conducted with seven female patients to compare the effects of phosphorus from milk and cheese to traditional phosphate tablets, using a crossover design over multiple treatment sessions.
- Results showed that milk, and to a lesser extent cheese, led to reduced parathyroid hormone levels and more stable phosphate levels compared to phosphate tablets, suggesting that milk might be a better phosphorus source for managing HR.
FGF23 and its role in X-linked hypophosphatemia-related morbidity.
Orphanet J Rare Dis
February 2019
Article Synopsis
- X-linked hypophosphatemia (XLH) is a genetic disorder due to PHEX gene mutations that causes various health issues like bone pain, rickets, and dental abscesses, linked to high levels of FGF23.
- The review explores the role of FGF23 in XLH's complex pathophysiology, investigating different PHEX mutations, animal models, and related diseases of low phosphate levels.
- It highlights that while elevated FGF23 is a major factor in XLH, other biochemical factors contribute to the disease's symptoms, suggesting areas for future research to improve understanding and treatment strategies.
Article Synopsis
- This study investigated bone remodeling in adults with X-linked hypophosphatemia (XLH), comparing biochemical markers with healthy controls.
- Results showed higher levels of bone resorption (CTX) and formation (P1NP), as well as sclerostin, in XLH patients compared to controls, indicating increased osteoblast and osteoclast activity.
- The findings challenge previous research suggesting low remodeling activity in XLH, prompting further investigation into the role of sclerostin and potential osteocyte dysfunction.
Article Synopsis
- Maternal thyroid disease (TD) during pregnancy may lead to increased long-term health risks for children, particularly those exposed to conditions like Graves' disease and Hashimoto's thyroiditis.
- A study in Denmark examined over 1.5 million live births from 1989 to 2013, revealing that children whose mothers had Graves’ disease showed significantly higher rates of both thyroid disorders and type 1 diabetes.
- The findings highlight the need for pediatricians to consider a mother's history of thyroid disease when assessing children's health, as those with exposed backgrounds have greater morbidity risks during childhood and adolescence.
Article Synopsis
- Long-term vitamin D deficiency can lead to rickets and stunted growth in children, prompting a study on its effects on leg and body measurements in healthy Danish infants.
- The study included data on cord 25OHD levels and various growth measurements from healthy, full-term infants up to three years old, analyzing results separately for boys and girls.
- Findings indicated that boys aged 19 months showed a significant decrease in leg length and a higher height ratio with lower cord 25OHD levels, but no consistent effects were observed in girls, suggesting a need for further exploration into these associations.
Objective: Fetal exposure to maternal rheumatoid arthritis (RA) might impact the long-term risk of disease in the offspring. We examined a possible association between maternal RA and 15 selected groups of chronic diseases in the offspring.
Methods: This nationwide cohort study was based on the Danish health registries and included data on all children born alive in Denmark between January 1, 1989 and December 31, 2013.
Article Synopsis
- X-linked hypophosphatemia (XLH) is a genetic disorder causing rickets in children and osteomalacia in adults, with treatments including oral phosphate and alfacalcidol recommended for kids but debated for adults.
- A 6-year study involving 27 adult XLH patients compared the effects of ongoing treatment on bone mineral density (aBMD) and key biochemical markers, finding no significant changes in aBMD between treated and untreated groups.
- Although treated patients showed increased bone resorption (as indicated by rising CTX levels), the therapy did not significantly impact bone mass, as aBMD measurements remained stable for both groups over time.
Background: Very little is known about the long-term impact of maternal inflammatory bowel disease (IBD) on the offspring's future health. We aimed to examine whether children born to mothers with IBD had an increased risk of long-term morbidities.
Methods: In this nationwide register-based cohort study, including all children born alive in Denmark between 1989 and 2013, we investigated the association between maternal IBD and 15 selected disease categories of physical and mental conditions in the offspring.
Article Synopsis
- - The study investigates craniofacial and dental features in patients with vitamin-D-dependent rickets type 1A (VDDR1A), comparing them to individuals with X-linked hypophosphatemia (XLH) and healthy adults.
- - Results show that VDDR1A patients have specific cranial measurements and a higher prevalence of enamel hypoplasia compared to XLH patients, indicating more severe dental abnormalities.
- - The findings suggest that nutritional deficits in both calcium and phosphate play a significant role in the dental health of VDDR1A patients, underscoring the importance of this knowledge for dental practitioners working with rare disease patients.
Article Synopsis
- Hypovitaminosis D, defined as low levels of vitamin D in pregnant women and newborns, affects many globally and is linked to lower birth weight and placental development.
- In a study involving 2,082 women from the Odense Child Cohort, it was found that 16.7% of newborns had vitamin D deficiency and 41% had insufficiency, with factors like low maternal vitamin D supplementation and high BMI increasing risk.
- Higher levels of cord vitamin D were positively associated with birth weight and placental metrics, suggesting that addressing vitamin D levels could improve neonatal outcomes.
Article Synopsis
- The study investigates the prevalence of chronic diseases among pregnant women in Denmark from 1989 to 2013, emphasizing its correlation with reproductive outcomes.
- The research analyzed data from over 1.3 million childbirths and found that the prevalence of maternal chronic diseases rose significantly from 3.71% in 1989 to 15.76% in 2013, with asthma and thyroid disorders being the most common.
- The findings indicate a more than four-fold increase in the risk of maternal chronic diseases in later years, although the study acknowledges that increased awareness and better disease registration may have influenced these results.
Article Synopsis
- Animal studies suggest vitamin D plays a key role in fetal lung development, but its effects on preterm animals were not previously examined.
- In a study involving preterm rat offspring, it was found that vitamin D depletion worsened respiratory issues, with affected pups showing lower birth weight, lung weight, and oxygenation levels compared to those with adequate vitamin D.
- The findings indicate that vitamin D deficiency negatively impacts survival and growth in preterm rats, highlighting the need for further research on its role in respiratory health for preterm neonates.
Background: Miscarriage is the most common negative outcome of pregnancy, and identification of modifiable risk factors is potentially of great importance for public health. Low vitamin D concentrations in pregnancy are widespread worldwide, and vitamin D deficiency is implicated in immune cell regulation at the feto-maternal interface and several diseases of pregnancy.
Objective: We investigated whether 25-hydroxyvitamin D serum concentration was a modifiable risk factor for early miscarriage.