Cystinosis-associated metabolicbonedisease across ages and CKD stages 1-5D/T. The pathophysiology of cystinosis-associated metabolicbonedisease is complex. We hypothesized a disturbed interaction between osteoblasts and osteoclasts. Binational cross-sectional multicenter study. Hospital clinics. One hundred and three patients with cystinosis (61% children) with chronic kidney disease (CKD
Effect of early preventive supplementation with calcium and phosphorus on metabolicbonedisease in premature infants. The objective was to study the effect of early preventive calcium and phosphorus supplementation on metabolicbonedisease in preterm infants. A retrospective analysis of 234 preterm infants with a gestational age < 32 weeks or birth weight < 1500 g who were hospitalized of metabolicbonedisease and fracture between the two groups was compared. 1) A total of 12 infants (5.13%) among the 234 preterm infants were diagnosed with metabolicbonedisease, including 2 (1.96%) in the prophylactic supplementation group and 10 (7.58%) in the nonprophylactic supplementation group. Fractures occurred in 3 premature infants (25.0%) with metabolicbonedisease, all of whom were
Vitamin D and metabolicbonedisease in prolonged continuous kidney replacement therapy: a prospective observational study. Complications of prolonged continuous kidney replacement therapy (CKRT) have not been well described. Our objective was to describe mineral metabolism and bone findings in children who required prolonged CKRT. In this single center prospective observational study, we
Role of fibroblast growth factor-23 as an early marker of metabolicbonedisease of prematurity. Metabolicbonedisease of prematurity (MBDP) remains a significant cause of morbidity in extremely premature newborns. In high-risk patients, suspected diagnosis and subsequent treatment modifications, with limitations in terms of sensitivity and specificity, rely on low phosphorus levels and/or high
Exploring cytokines dynamics: Uncovering therapeutic concepts for metabolic disorders in postmenopausal women- diabetes, metabolicbonediseases, and non-alcohol fatty liver disease. Menopause is an age-related change that persists for around one-third of a woman's life. Menopause increases the risk of metabolic illnesses such as diabetes, osteoporosis (OP), and nonalcoholic fatty liver disease
Artificial Neural Network Modeling to Predict Neonatal MetabolicBoneDisease in the Prenatal and Postnatal Periods. Early recognition of metabolicbonedisease (MBD) in infants is necessary but difficult; an appropriate tool to screen infants at risk of developing MBD is needed. To develop a predictive model for neonates at risk for MBD in the prenatal and postnatal periods and detect
Metabolicbonedisease and fracture risk after gastric bypass and sleeve gastrectomy: comparative analysis of a multi-institutional research network. Roux-en-Y gastric bypass (RYGB) and sleeve gastrectomy (SG) are the two most performed bariatric procedures. Multiple studies have investigated the metabolic bone complications after bariatric surgery, but there is a paucity of data comparing bone
Screening for MetabolicBoneDisease of prematurity. Metabolicbonedisease (MBD) of prematurity remains a significant comorbid condition in preterm, low birth weight infants. As the majority of in utero calcium (Ca) and phosphorus (Phos) accretion occurs during the third trimester, many of these children have inadequate mineral stores and are at risk for deficiencies of Ca and Phos. While
Diagnosis and management of pediatric metabolicbonediseases associated with skeletal fragility. The goal of this review is to give an overview of diagnosis and up-to-date management of major pediatric metabolicbonediseases that are associated with bone fragility, including nutritional rickets, hypophosphatemic rickets, osteogenesis imperfecta, Ehlers--Danlos syndrome, Marfan's syndrome
A case series of distal renal tubular acidosis, Southeast Asian ovalocytosis and metabolicbonedisease. Familial distal renal tubular acidosis (dRTA) associated with mutations of solute carrier family 4 membrane - 1 (SLC4A1) gene could co-exist with red cell membrane abnormality, Southeast Asian ovalocytosis (SAO). Although this association is well described in Southeast Asian countries . Although two families of SAO was described earlier, SAO and dRTA combination was reported only once in a patient from Anuradhapura district. Distal renal tubular acidosis, SAO combination and its related complications including nephrocalcinosis, chronic kidney disease and metabolicbonedisease was not described in Sri-Lankan literature. This case series emphasize the importance of investigating
Metabolicbonedisease in children with intestinal failure is not associated with the level of parenteral nutrition dependency. Children on long-term home parenteral nutrition (HPN) are at increased risk of suboptimal growth and metabolicbonedisease (MBD) i.e. decreased bone mineral density (BMD). The aims of this cross-sectional study were to assess growth and bone health in children on long
Off-label uses of denosumab in metabolicbonediseases. Denosumab (Dmab), a monoclonal antibody against the receptor activator of nuclear factor-κB (RANK) ligand (RANKL) which substantially suppresses osteoclast activity, has been approved for the treatment of common metabolicbonediseases, including postmenopausal osteoporosis, male osteoporosis, and glucocorticoid-induced osteoporosis , in which the pathway of the RANK/RANKL/osteoprotegerin is dysregulated. However, the imbalance of RANKL/RANK/osteoprotegerin is also implicated in the pathogenesis of several other rare metabolicbonediseases, including Juvenile Paget disease, fibrous dysplasia, Hajdu Cheney syndrome and Langerhans cell histiocytosis, thus rendering Dmab a potential treatment option for these diseases. Dmab has been
Hyponatremia and metabolicbonedisease in patients with epilepsy: A cross-sectional study. Patients with epilepsy frequently develop hyponatremia due to the treatment with antiepileptic drugs and have an increased risk of developing metabolicbonedisease. Hyponatremia is known to be associated with osteoporosis. The aim of the study was to investigate the association between hyponatremia
Metabolicbonedisease of prematurity: causes, recognition, prevention, treatment and long-term consequences. Metabolicbonedisease of prematurity (MBDP) is characterised by skeletal demineralisation, and in severe cases it can result in fragility fractures of long bones and ribs during routine handling. MBDP arises from prenatal and postnatal factors. Infants who are born preterm are deprived
Diffuse, fracturing systemic skeletal histiocytosis of unknown type: a novel metabolicbonedisease. We describe a novel disease of diffuse skeletal histiocytosis associated with multiple fragility fractures and high osteoclast activity. Clinical, radiographic, biochemical, genetic, and histopathological investigations were performed to characterize the diagnosis of an Asian man who presented with hip fracture and diffuse skeletal lytic lesions. After excluding malignancy and other common metabolicbonediseases, open bone biopsy yielded several pathological samples all showing extensive skeletal histiocytosis likely to explain the diffuse axial and appendicular lytic lesions. Rare disorders such as Langerhans histiocytosis, Erdheim-Chester disease, and diffuse cystic skeletal angiomatosis
Vitamin D status among preterm infants with cholestasis and metabolicbonedisease. Metabolicbonedisease of prematurity (MBD) is a common problem among preterm infants. Our previous study identified cholestasis as an important risk factor for the development of MBD. We conducted this study to determine the vitamin D status in preterm infants with MBD and cholestasis. We retrospectively
A Cross-Sectional Study of Growth and MetabolicBoneDisease in a Global Cohort Undergoing Chronic Hemodialysis. We sought to assess worldwide differences among pediatric patients undergoing hemodialysis. Because practices differ widely regarding nutritional resources, treatment practice, and access to renal replacement therapy, investigators from the Pediatric Investigation and Close
Risk factors analysis and prevention of metabolicbonedisease of prematurity. The present study aims to analyze the risk factors for metabolicbonedisease (MBD) of prematurity.A total of 238 preterm infants who were born at <34 weeks of gestation and were hospitalized for at least 6 weeks in the Department of Neonatology, Fujian Maternity and Children Hospital between January 1, 2011
Hypophosphatemia in the setting of metabolicbonedisease: case reports and diagnostic algorithm Osteoporosis is the most commonly encountered metabolicbonedisease, and metabolicbone-disease clinics have been established to assist in the diagnosis and treatment of uncommon causes of low bone-mineral density. Hypophosphatemia leading to metabolicbonedisease may be encountered
A Study of the Relationship Between Cystatin C and MetabolicBoneDisease in Preterm Infants Cystatin C (CysC) is commonly used as a marker of renal failure in premature infants. The aim of this study was to investigate serum CysC levels in osteopenia of prematurity (OP) and determine whether CysC could be safely used as a marker of renal insufficiency in infants with OP. Subjects were 50