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Background: Rickets is a common metabolic bone disease in children, primarily caused by vitamin D deficiency. This study aimed to compare the efficacy of oral weekly vitamin D supplementation and injectable stoss therapy in treating nutritional rickets in Indian children. Methods: This prospective, randomized, controlled trial was conducted over 18 months at a tertiary care center. Forty children aged 6 months to 16 years with clinical, biochemical, and radiological evidence of nutritional rickets were enrolled and randomly assigned to receive either oral vitamin D3 (60,000 IU weekly for 10 weeks) or a single intramuscular injection of vitamin D3 (600,000 IU). Clinical, biochemical, and radiological assessments were conducted at baseline and at 3 weeks, 6 weeks, 3 months, and 6 months post-treatment. Results: Both treatment regimens significantly improved vitamin D, calcium, phosphorus, alkaline phosphatase, and parathyroid hormone (PTH) levels, with no significant differences between the groups. Radiological healing, assessed by Thacher's score, was achieved in both groups by 6 months. While both treatments were effective, injectable stoss therapy resulted in a more sustained increase in vitamin D levels and may offer better compliance due to its single-dose administration. No cases of local skin complications or vitamin D toxicity or symptomatic hypercalcemia were observed. Conclusion: Oral weekly and injectable stoss therapies are both effective and safe for treating nutritional rickets. Injectable stoss therapy may be more suitable for the Indian population due to its cost-effectiveness and lower compliance demands. Serum parathyroid hormone (PTH) levels emerged as a useful early marker of rickets severity as well as treatment response. Early diagnosis and treatment are crucial to prevent long-term skeletal deformities. [ABSTRACT FROM AUTHOR]

Chronic kidney disease (CKD) is an extremely widespread pathology characterized by numerous metabolic alterations, including impairments of calcium–phosphorus and of vitamin D metabolisms, which lead to a condition known as CKD–mineral and bone disorders (CKD-MBDs). In CKD children, this pathological condition induces anomalies in physiological growth processes, alterations in bone morphology, renal osteodystrophy and rickets. CKD-MBDs are not only associated with systemic complications but also show dental and maxillofacial manifestations in children. In fact, children affected by CKD-MBDs present defects in enamel development and dental anomalies when compared to healthy children. Therefore, the aims of this narrative review are to focus on the hard dental tissues and to investigate the possible correlation between the CKD-MBDs in children and the presence of developmental defects of enamel. In addition, the possible risk and protective factors of dental caries in CKD pediatric patients are analyzed. The review describes, with a multidisciplinary nephrological–dental approach, the pathogenic mechanisms that can cause anomalies in dental structure in CKD pediatric patients. [ABSTRACT FROM AUTHOR]

Catherine Chisholm BA MB ChB MD FRCP CBE (1879–1952) is celebrated as the first woman to qualify in medicine from Manchester University in 1904 and is remembered for founding the Manchester Babies Hospital in 1914 (later renamed in 1935 as the Duchess of York Hospital for Babies). She was indefatigable in her pursuit to improve the education and status of women doctors; the first woman member and president of the British Paediatric Society; first woman president of the Manchester Medical Society and was mainly responsible for establishing the Medical Women's Federation in 1917. Her career was a complex mixture of medical and social networks that linked her work as a children's physician to the Manchester Public Health Committee, Liberal politics and feminist groups. These networks played an important role in Dr Chisholm's successful career and are at the centre of this paper. [ABSTRACT FROM AUTHOR]

Background: Exposure to sunlight aids in the body's production of vitamin D, guards against rickets, and treats newborn jaundice. In Ethiopia, the magnitude of sunlight exposure practice varies across studies. Thus, this study aimed to estimate the pooled practices and factors associated with sunlight exposure of infants among mothers in Ethiopia. Methods: Electronic search was carried out using databases (PubMed, HINARI, Science Direct, electronic databases, and Google Scholar) for relevant articles published from January 1, 2010, to March 27, 2024. The screening process was carried out in accordance with PRISMA guidelines. Articles conducted in English and quantitatively expressed were considered in this review. The quality assessment of included articles was evaluated using the Newcastle–Ottawa Scale. Data analysis was carried out using STATA-14 version software. I2 statistics and Egger's test were used to evaluate heterogeneity and publication bias, respectively. The pooled prevalence with a 95% confidence interval (CI) of the meta-analysis utilizing the random effect model was displayed using forest plots, and adjusted odds ratio (AOR) was utilized to quantify the association. Results: 1171 records, 13 studies were included in the meta-analysis with 5190 study participants that fulfill the inclusion criteria, and all the included studies were cross-sectional in design. The pooled prevalence of sunlight exposure practice among mothers in Ethiopia was 45.38% CI (38.36, 52.4). Good sunlight-related knowledge (AOR; 1.61, 95% CI 1.3, 1.98), maternal formal education (AOR; 1.35, 95% CI 1.08, 1.69), housewife (AOR; 0.7, 95% CI 0.51, 0.95), and husband formal education (AOR; 1.29, 95% CI 1.07, 1.56) were significantly associated with good sunlight exposure practice. Conclusion: The pooled prevalence of good sunlight exposure practice among mothers in Ethiopia was low. Good sunlight-related knowledge, being a housewife, and maternal and husband formal education were the factors that were associated with good sunlight exposure practice. Thus, the government needs to cater further assistance and initiate greater information circulation and follow-up to improve the situation. [ABSTRACT FROM AUTHOR]

Background/Objectives: X-linked hypophosphataemic rickets (XLH) represents the most frequent type of rickets from genetic origin, it is caused by mutations on the PHEX gene. The main clinical manifestations are short stature and bone deformities. Phenotype variation is observed at the intrafamily and interfamily level. The bases for this variation are not fully understood. The aim of this study was to investigate if there is a phenotype–genotype correlation in a cohort of patients with confirmed diagnosis of XLH. Methods: We recruited a total of 130 patients of Mexican Mestizo origin with confirmed molecular diagnosis of XLH; this is one of the largest cohorts reported. Results: Radiographies for calculating the rickets severity score (RSS) were available from 50 patients. A total of 56 different pathogenic variants were found among the study population; from them, 31 variants have not been previously reported. We compared the RSS values between individuals considering clinical and biochemical characteristics such as age, height, sex, phosphorus, and alkaline phosphatase in serum; no significant differences were observed. Then, we compared the RSS considering if the variant was intronic or exonic and considering the presence of a truncated protein or not. None of the two comparisons showed significant differences. Conclusions: We did not find a genotype–phenotype correlation in the study population. Despite the knowledge regarding the genetic cause of XLH, the mechanisms driving the intrafamily and interfamily variability remain elusive. More analyses looking for the genotype–phenotype correlation are necessary in other populations, especially considering the discovery of new mutations in patients from different origin. [ABSTRACT FROM AUTHOR]

Background: Inactivation or mutations of FAM20C causes human Raine Syndrome, which manifests as lethal osteosclerosis bone dysplasia or non-lethal hypophosphatemia rickets. However, it is only hypophosphatemia rickets that was reported in the mice with Fam20c deletion or mutations. To further investigate the local and global impacts of Fam20c mutation, we constructed a knock-in allele carrying Fam20c mutation (D446N) found in the non-lethal Raine Syndrome. The Fam20cD446N allele replaced the WT Fam20c by 3.6Kb Col1a1-Cre to get the conditional knock-in mice, and by Hprt-cre to get conventional knock-in mice, respectively. Results: The radiology, serum biochemistry and immunohistochemistry indicated that all conditional and most conventional Fam20cD446N knock-in mice displayed hypophosphatemic rickets with the increased Fgf23 and deceased Dmp1 expression, which survived to adulthood. However, a few conventional Fam20cD446N knock-in mice died before weaning with the osteosclerotic X-ray radiography, though micro-CT assay displayed a reduced mineral density and increased porosity in the osteosclerotic tibia. Our results suggested that hypophosphatemia rickets was the predominant phenotype in both conditional and conventional Fam20c deficient mice, while the lethal osteosclerotic phenotype occasionally took place in the conventional Fam20c mutant mice. Conclusion: This finding also implicated that the osteosclerotic features resulting from Fam20c deficiency could be a semblance on the basis of rickets, which is most likely triggered by the alterations in the systems other than skeleton. [ABSTRACT FROM AUTHOR]

X-linked hypophosphatemic rickets (XLH), the most common form of hereditary rickets, is characterized by renal phosphate wasting and abnormal vitamin D metabolism due to elevated circulating levels of the phosphatonin fibroblast growth factor 23 (FGF23). Dominant inactivating variants of the phosphate regulating endopeptidase homolog, X-linked (PHEX), gene are present in patients with XLH, and more than half of affected patients carry de novo variants. We report on 3 families in whom affected members had highly unusual PHEX pathogenic variants. In 1 family we identified a previously described deep intronic PHEX variant (c.1768 + 173A>G) in the proband and her affected son. This variant is also near a previously reported PHEX variant (c.1768 + 177_1768 + 180dupGTAA) and is predicted to affect splicing by SpliceAI (delta score: 0.95) through creation of a new donor splice site. In a second proband we identified 2 pathogenic de novo and novel PHEX variants, c.2083delT (p.Ser695Profs*45) and c.2085delC (p.Tyr696Thrfs*44), that were present on different alleles, consistent with mosaicism for 3 PHEX alleles. The third proband also carried 2 PHEX variants (c.755 T>C [p.Phe252Ser] and c.759G>A [p.Met253Ile]), but in this case both variants were present on the same PHEX allele. These studies expand the molecular catalog of pathogenic PHEX variants in XLH and emphasize the importance of deep intronic sequencing and comprehensive family studies. Conventional approaches to genetic diagnosis may not be adequate to identify or characterize the disease-causing variants in the PHEX gene in some patients with likely XLH. [ABSTRACT FROM AUTHOR]

Dysregulated FGF23 production is a demonstrated cause of hypophosphatemia and osteomalacia. Diseases associated with these conditions include phosphaturic mesenchymal tumor (PMT) causing tumor induced osteomalacia, various forms of rickets, and fibrous dysplasia (FD). Coexistence of 2 conditions that can increase FGF23 concentrations is rare. We report a case of a 79-yr-old man who presented with rib and right flank pain. Imaging revealed bone lesions in the right iliac wing, left supra-acetabular area, and L4 vertebral body. Biopsies showed a right iliac PMT and left supra-acetabular FD. Cryoablation of both lesions resolved the phosphaturia with normalization of phosphorus level. Coexistence of PMT and FD in this patient with hypophosphatemia raised questions about the source of the FGF23, meaning of coexistence of PMT and FD in the same patient and, about the nature of the third lesion in the L4 vertebral body. Using FGF23 mRNA chromogenic in situ hybridization, we identified the PMT, rather than the FD, as the source of FGF23. Lack of GNAS mutation in the PMT suggested it being independent of FD. Assessment by the intact FGF23: total FGF23 ratio as well as gallium-DOTATATE scan suggested that the vertebral body lesion could represent FD. Other than understanding difference in underlying molecular processing of FGF23 in PMT and FD, testing for mutations, imaging studies as well as in situ hybridization helped solve the questions arising from this unique case of coexistence of PMT and FD. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective Design, Measurement and Patients Results Conclusion Vitamin D deficiency (VDD) in children can cause hypocalcaemia and rickets, but the prevalence of these complications and the 25‐hydroxyvitamin D (25OHD) concentrations below which they arise is uncertain. We investigated this in children (< 18 years) with 25OHD measurements.We obtained 25OHD results from the regional laboratory database, alongside albumin‐adjusted serum calcium (aCa), parathyroid hormone (PTH) and alkaline phosphatase (ALP) within 6 months of the index 25OHD. We defined confirmed VDD with biochemical abnormalities (VDDba) as all of low aCa, elevated PTH and elevated ALP. Possible/potential VDDba were defined as 2/3 VDDba criteria with the third test missing (possible), or in the normal range (potential). Clinical records of identified cases were reviewed, and a consensus diagnosis was reached.A total of 30,663 25OHD measurements were identified over 11.5 years (1 January 2009 to 15 June 2020); mean age 8 y, 47% female. After excluding ineligible results, 12,858 25OHD measurements from 9516 individuals with ≥ 2 aCa, PTH and ALP were analysed. Median 25OHD was 61 nmol/L; 36% < 50 nmol/L, 10% < 25 nmol/L. In total, 152 index 25OHD measurements were categorised as VDDba (30 confirmed, 23 possible and 99 potential). Following record review, 118 individuals (111 < 3 years) had 120 clinically confirmed VDDba episodes (62 clinical rickets, 15 biochemical rickets, 16 hypocalcaemia, 23 secondary hyperparathyroidism and 4 partially treated rickets). Fifty‐six had undetectable 25OHD, and 104 < 25 nmol/L. The proportion of clinically confirmed VDDba was 0.9% for all eligible 25OHD measurements, and 8% for 25OHD < 25 nmol/L.VDDba is uncommon in children undergoing 25OHD testing, and occurs almost entirely in children < 3 years. [ABSTRACT FROM AUTHOR]

ABSTRACT Vitamin D‐dependent rickets type 2A (VDDR2A) is a rare cause of infantile‐onset alopecia, characterized by severe hypotrichosis, small cutaneous cysts, early‐onset treatment‐resistant rickets, and hypocalcemia. Alopecia, often starting a few weeks to months after birth, may be the presenting feature. We present three cases of VDDR2A with genetic variants in the vitamin D receptor (VDR) gene, their clinical features and biochemical parameters. This case series emphasizes that early identification of this rare cause of alopecia and treating the metabolic abnormalities can improve bone health. [ABSTRACT FROM AUTHOR]

Background: Rickets is a preventable mixed group of acquired and inherited diseases causing disturbances in calcium and/or phosphate homeostasis that affect the growing skeleton disease of growing children and adolescents, leading to the softening and weakening of bones. This study aims to describe the presentation of Rickets in children attending a tertiary hospital in a developing tropical country. Methods and Materials: The study design is cross-sectional and hospital-based. The study data was collected from hospital records and utilized clinical history, clinical examination, and results of laboratory investigations. The collected data was analyzed by SPSS v27. Results: The mean age of the rickets children included in the study was (22.3 ± 15.1 months). Male (55.4%) children are more present than females (44.6%). About 80.4% (45) of the children were from families with low socioeconomic status. Most children's fathers (53.6%) have a good educational background compared to their mothers (44.7%). Children who received breastfeeding accounted for 42 (75%), while those who did not breastfeed accounted for 14 (25%). Most children are exposed to sunlight less (73.2%). The majority (92.9%) of children were underweight. Male (55.4%) children are affected more than females (44.6%). Rachitic rosary (75%) and wrist swelling (69.6%) are the most common manifestations. About 92.9% of screened children had both hypocalcemia and hypophosphatemia. The alkaline phosphatase enzyme increased 91% (51) of the studied cases. Conclusion: Low socioeconomic status, low exposure to sunlight, and mothers' educational background were essential in developing Rickets among the studied children. Rickets affected Male children more than females, and Rachitic rosary and wrist swelling are the most common manifestations. Most of the children showed positive laboratory findings. [ABSTRACT FROM AUTHOR]

Tertiary hyperparathyroidism represents a disease, which occurs as a complication usually in patients with chronic kidney disease and background of secondary hyperparathyroidism and less often in other conditions, such as hypophosphatemic rickets syndromes, pseudohypoparathyroidism, oncogenic osteomalacia and malabsorption syndromes. It is characterized by persistently elevated parathyroid hormone and calcium levels, as a result of reactive nodular hyperplasia of the parathyroid glands. It is manifested by a variety of clinical symptoms, affecting multiple systems and mainly the musculoskeletal. The pathological changes in bones, observed in tertiary hyperparathyroidism, can be a result of the increased parathyroid hormone levels in the blood, as well as of the metabolic disorders related to chronic kidney disease. The diagnosis of tertiary hyperparathyroidism is based on clinical and laboratory findings, while its treatment includes pharmaceutical as well as surgical methods. In this article there will be a reference in etiology, pathophysiology, clinical picture, diagnostic and therapeutical approach of tertiary hyperparathyroidism, aiming to the adequate management of such a patient case. There will also be a brief reference of some elements from the anatomy and physiology of the parathyroid glands, which are going to contribute to a better understanding of the pathophysiological changes that occur in the disease. [ABSTRACT FROM AUTHOR]

The case report aims to describe nutritional rickets in a professional pediatric gymnast with wrist pain. This 13-yearold professional national gymnast presented with atraumatic left wrist pain. The X-ray showed metaphyseal plate tearing, indicating distal radial epiphysiolysis and subsequent testing revealed low 25-hydroxyvitamin D (42 nmol/L), high serum parathyroid hormone (7.37 pmol/L), normal calcium (2.24 mmol/L), elevated phosphate (1.37 mmol/L), and alkaline phosphatase (259 U/ She was diagnosis as nutritional rickets. MRI of the wrist showed metaphyseal plate fraying and epiphyseal growth plate increase. She received calcium and vitamin D supplements. After a month in a wrist brace, she gradually resumed training as her pain and range of motion improved. Vitamin D deficiency can cause unusual rickets presentation in a young athlete. Clinical, blood, and radiographic findings determine diagnosis. Medical management, graded rehabilitation, nutritional intervention, and sun exposure are the main treatments for this athlete. [ABSTRACT FROM AUTHOR]

Rickets, one of the leading causes of bony deformities and short stature, can be calciopenic (inciting event is defective intestinal calcium absorption) or phosphopenic (inciting event is phosphaturia). Early diagnosis and timely treatment of rickets are crucial for correction of the limb deformities. Guidelines exist for nutritional rickets, but the diagnosis and management of the relatively uncommon forms of rickets are complex. This consensus aims to formulate a simplified diagnostic approach for rickets, especially in resource-limited settings. The consensus statement has been formulated by a 29-member committee from the Endocrine Society of Bengal. The process included forming a working group, conducting a literature review, identifying controversies, drafting, and discussion at a consensus meeting. Participants rated their agreement with the clinical practice points, and a 70% consensus was required. Input integration and further review led to the final consensus statements. Children with suspected rickets should initially be examined for distinctive skeletal deformities. The diagnosis of rickets should be confirmed with characteristic radiographic abnormalities. It is advisable to order tests for serum calcium, inorganic phosphorus (Pi), liver function, 25-hydroxyvitamin D (25OHD), parathyroid hormone, creatinine, and potassium in all patients with rickets. In cases of refractory rickets, it is also recommended that assessments be conducted for spot urine calcium, Pi, creatinine, and, blood gas analysis. In children with rickets and metabolic acidosis, tests for glycosuria, uricosuria, aminoaciduria, low molecular weight proteinuria, and albuminuria should be conducted. In children with resistant calciopenic rickets and sufficient serum 25OHD levels, serum 1,25(OH)2D concentration should be tested. 1,25(OH)2 D and fibroblast growth factor 23 estimation is useful for certain forms of phosphopenic rickets. [ABSTRACT FROM AUTHOR]

Vitamin D-dependent rickets type 1A is caused by pathogenic variants of CYP27B1 gene, which is inherited in autosomal recessive pattern. These variants lead to defective 1α-hydroxylase enzymatic activity, leading to impaired renal formation of 1,25(OH)2 vitamin D. We report a case of a 16-year-old Asian male patient, with short stature and progressive bone deformity, whose biochemical parameters revealed low levels of 1,25(OH)2 vitamin D, low serum calcium levels, along with high phosphorus and raised levels of intact parathyroid hormone. These biochemical parameters suggested the diagnosis of pseudohypoparathyroidism. The patient also had concurrent extrapulmonary tuberculosis during the time of presentation to our endocrine unit. However, on molecular testing, it was revealed that the patient was harboring pathogenic variants of the CYP27B1 gene, in a compound heterozygous manner, with a novel missense mutation in exon 6 of the CYP27B1 gene, c.1136G > C (p.Arg379Thr), suggesting the diagnosis of vitamin D-dependent rickets type 1A. The cause of high phosphorus at the time of presentation, which led to a diagnostic dilemma of pseudohypoparathyroidism, was later explained by presence of active extra pulmonary tuberculosis. This report describes a case of vitamin D-dependent rickets type 1A, mimicking pseudohypoparathyroidism owing to presence of concurrent illness like extrapulmonary tuberculosis. [ABSTRACT FROM AUTHOR]

Objectives: The osteological paradox recognizes that the presence of lesions is not always directly related with increased mortality. When combined with the clinical, historical, and epidemiological literature on scurvy, survivorship analysis, a form of statistical analysis to assess the relationship between the presence of diseases in the archeological record and survival, helps determine the overall burden of the disease both in terms of morbidity and mortality. This article explores the relationship between scurvy and survivorship in 26 adults from Man Bac, a Neolithic site from northern Vietnam together with prepublished evidence of scurvy in the nonadult population (n = 44). Methods: Diagnosis of scurvy included differential diagnosis combined with the Snoddy, A. M. E., Buckley, H. R., Elliott, G. E., Standen, V. G., Arriaza, B. T., & Halcrow, S. E. (2018). Macroscopic features of scurvy in human skeletal remains: A literature synthesis and diagnostic guide. American Journal of Physical Anthropology, 167(4), 876–895. https://doi.org/10.1002/ajpa.23699 threshold criteria and the Brickley, M. B., & Morgan, B. (2023). Assessing diagnostic certainty for scurvy and rickets in human skeletal remains. American Journal of Biological Anthropology, 181, 637–645 diagnostic certainty approaches. Kaplan–Meier survival curves were produced to assess the relationship between the presence of probable scurvy and age‐at‐death. Results: The prevalence of probable scurvy in adults (35%) was considerably lower than reported for the nonadults (80%). Almost all lesions observed in the adults were in a mixed stage of healing. Kaplan–Meier analysis demonstrated no difference in survivorship between infants and children (<15 years) with or without probable scurvy, whereas a meaningful difference was observed for the adults and adolescents (15+ years). Conclusions: The findings demonstrate that scurvy considerably decreased survivorship to older age categories. The degree of lesion remodeling, however, indicates that scurvy was not necessarily the direct cause of death but contributed to an overall disease burden that was ultimately fatal. [ABSTRACT FROM AUTHOR]

Background: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP27B1 gene, typically characterized by growth failure, rickets, leg bowing, fracture, seizures, hyperparathyroidism, hypocalcemia, high-alkaline phosphatase, high or normal 25(OH)D3, and low 1,25(OH)2D3. Methods: We studied two siblings in a Mexican family with an atypical form of VDDR1A. In addition to the typical features of VDDR1A, the proband showed cafe au lait spots, small teeth, and grayish sclera, with hypophosphatemia, normocalcemia, and normal 25(OH)D3; the proband's brother showed grayish sclera. The proband underwent next generation sequencing. Sanger sequencing was performed in the proband, his brother, the parents, and 100 healthy controls validate the detected variant. Results: Both brothers presented with a recurrent variant NM_000785.3; c.1319_1325dupCCCACCC and a novel nonsense variant NM_000785.3; c.227G>A in the CYP27B1 gene. Conclusions: Calcitriol treatment had a better response in proband´s younger brother. We describe the first Mexican family with an atypical form of VDDR1A associated with a novel nonsense variant, the results contribute to the phenotypic spectrum and increase the pool of pathogenic variants in CYP27B1. Data suggest that nonsense-truncating variants play a significant role in the severity of VDDR1A. [ABSTRACT FROM AUTHOR]

Background: Rickets encompasses a heterogeneous group of acquired and hereditary diseases. The most common cause is nutritional deficiency, but it can also have a genetic origin. Purpose: The purpose of this is article is to report the case of rickets of genetic origin in an indigenous patient. Case presentation: We present the case of an Indigenous patient with rickets, in whom a nutritional etiology was ruled out. Molecular testing confirmed the diagnosis of vitamin D-dependent rickets type 1A (VDDR-1A). Discussion and conclusion: The diagnosis of rickets requires knowing the possible biochemical profiles as a key tool, and thus opportunely suspecting less frequent variants such as hereditary ones, even in a high-risk population of deficiency origin as was the case in the reported case. [ABSTRACT FROM AUTHOR]

Background: Despite ample sunshine, vitamin D deficiency continues to be prevalent in the Middle East. This pilot study aimed to identify the rate of vitamin D deficiency at a tertiary hospital in Abu Dhabi and to identify the associated risk factors in children and adolescents. Methodology: A retrospective observational study was conducted using electronic medical records of paediatric patients who underwent 25-hydroxyvitamin D testing at Sheikh Shakhbout Medical City, Abu Dhabi between 1 January 2020 and 31 December 2021. Data on age, gender, ethnicity, weight, body mass index and other potential risk factors for vitamin D deficiency in children were recorded. Patients who were already receiving treatment for vitamin D deficiency were excluded. The collected data were analysed using standard statistical methods. Results: Of 26,818 patients under 18 years of age who attended the outpatient clinic, 1519 underwent 25-hydroxyvitamin D testing; 51% were male (n = 755). After applying the exclusion criteria, 1311 participants were included, 755 (58%) of whom had vitamin D concentrations of ≤50 nmol/L. Vitamin D deficiency was more common in children aged ≥10 years (69%) than in those <10 years of age (53%) (p < 0.0001). The highest prevalence of vitamin D deficiency was in those older than 16 years (86%). More females (63%, n = 407) than males (52%, n = 348) were identified as vitamin D-deficient (p = 0.0001). Vitamin D deficiency was more commonly identified during summer and autumn (59%) than in winter and spring (44%, p < 0.00001). Conclusion: Vitamin D deficiency is prevalent in children seeking medical care in the UAE, especially in girls, older children and adolescents, and during the summer and autumn. Paediatricians should have a low screening threshold for hypovitaminosis D, or widespread supplementation should be considered. [ABSTRACT FROM AUTHOR]

Phosphate has a fundamental role in bone mineralization, and its chronic deficiency has multiple negative consequences in the body, including defects in bone mineralization that will manifest in children as rickets and osteomalacia. Here we present a young boy known to have Wiedemann-Steiner syndrome with multiple co-morbidities that necessitated gastric tube feeding. The child at 22 months was found to have hypophosphatemia and a high alkaline phosphatase level associated with rachitic skeletal manifestations that were attributed to low phosphate intake and/or gastrointestinal absorption, as there was no evidence of excessive phosphate wasting based on appropriate tubular renal re-absorption of phosphate. The primary nutritional source was an elemental amino acid-based milk formula (Neocate®) from 12 months of age. After switching from Neocate® to another elemental amino-acid based milk formula, all biochemical and radiological abnormalities returned to normal, indicating that the Neocate® formula was the possible cause of the patient's low phosphate intake. However, in the literature, this formula-associated effect was only described in a limited number of patients. Whether or not some patient-related factors, such as the very rare syndrome described in our patient, could influence this effect warrants further exploration. [ABSTRACT FROM AUTHOR]

To assess the efficacy and safety of burosumab in children and adults with X-linked hypophosphatemia based on real-world evidence. MEDLINE (via PubMed) and Cochrane Library were searched until 18 October 2023 for single-arm (before-after) studies. Registries including Clinicaltrials.gov, EU Clinical Trials, WHO International Clinical Trials Registry Platform, and conference abstracts. The outcomes were a change in serum phosphorus concentrations and change in RSS, a change in serum ALP, bone-specific ALP, a change in the ratio of Tubular maximum reabsorption of Phosphate to Glomerular Filtrate rate, a change in serum 1,25(OH)2D and 25(OH)2D concentrations, change in height Z-score, McMaster Universities Osteoarthritis Index (WOMAC) and safety outcomes. An inverse variance random-effects meta-analysis was applied for data synthesis. Fifteen studies (289 participants) were included. Burosumab treatment improved serum phosphate concentrations [mean difference 0.88 mg/dl, 95% confidence interval 0.70 to 1.07, I2 = 92%), Rickets Severity score (mean difference − 1.86, 95% confidence interval − 2.5 to − 1.21, I2 = 71%), serum alkaline phosphate concentrations (mean difference − 1.86, 95% confidence interval − 2.5 to − 1.21, I2 = 71%), serum 1,25(OH)2D concentrations (mean difference 18.91 pg/ml, 95% confidence interval 6.39 to 31.43, I2 = 96%) and renal phosphate reabsorption (mean difference 1.22 mg/dl, 95% confidence interval 0.70 to 1.74, I2 93%). Burosumab treatment improved overall clinical and laboratory findings in patients with X-linked hypophosphatemia. [ABSTRACT FROM AUTHOR]

Vitamin D, often referred to as the "sunshine vitamin", plays an indispensable role in maintaining human health. This paper vividly introduces the formation, discovery, biological functions, and everyday applications of vitamin D from a chemical perspective. Through a deeper understanding of vitamin D, we can better recognize and learn how to judiciously utilize this essential nutrient to safeguard our health. [ABSTRACT FROM AUTHOR]

This article explores the challenges of diagnosing rickets and scurvy in human skeletal remains. The authors suggest a temporary pause on using microscopic mineralization defects to diagnose rickets, as more data is needed for certainty. They propose using terms like "highly consistent/typical" and "consistent with" instead. The article also discusses the potential use of machine learning and artificial intelligence in evaluating mineralization defects in bones and teeth. It emphasizes the prevalence of rickets and vitamin D deficiency globally and highlights the need for further research and collaboration between paleopathologists and clinicians. The article concludes by emphasizing the importance of interdisciplinary research in addressing global health issues. [Extracted from the article]

Concentrations of vitamin D (VitD) and 25-hydroxyvitamin D (25OHD) in breastmilk are low despite the essential role of VitD for normal infant bone development, yet additional metabolic forms of vitamin D may be present. This study evaluates the contribution of sulfated vitamin D metabolites, vitamin D 3 -sulfate (VitD 3 -S) and 25-hydroxyvitamin D 3 -sulfate (25OHD 3 -S) for lactating women and assesses the response to high-dose VitD 3 supplementation. Serum and breastmilk were measured before and after 28 days with 5000 IU/day VitD 3 intake in 20 lactating women. Concentrations of VitD 3 -S and 25OHD 3 -S in milk, and 25OHD 2 , 25OHD 3 , 25OHD 3 -S, VitD 3 and VitD 3 -S in serum were determined by mass spectrometry. Baseline vitamin D status was categorized as sufficient (mean ± SD serum 25OHD 3 69 ± 19 nmol/L), and both serum VitD 3 and 25OHD 3 increased following supplementation (p < 0.001). 25OHD 3 -S was 91 ± 19 nmol/L in serum and 0.47 ± 0.09 nmol/L in breastmilk. VitD 3 -S concentrations were 2.92 ± 0.70 nmol/L in serum and 6.4 ± 3.9 nmol/L in breastmilk. Neither sulfated metabolite significantly changed with supplementation in either serum or breastmilk. Sulfated vitamin D metabolites have prominent roles for women during lactation with 25OHD 3 -S highly abundant in serum and VitD 3 -S distinctly abundant in breastmilk. These data support the notion that 25OHD 3 -S and VitD 3 -S may have physiological relevance during lactation and nutritional usage for nursing infants. [ABSTRACT FROM AUTHOR]

Background: Individuals with genetic or nutritional rickets frequently suffer from craniosynostosis. While cranial vault remodeling is most often performed, other approaches, such as distraction osteogenesis and endoscopic suturectomy, are infrequently reported. Here, we discuss the status of the current literature and describe 2 patients with rachitic craniosynostosis, one of whom had previously undergone endoscopic suturectomy, who both successfully underwent distraction osteogenesis. Case description: Two male patients with rickets-associated craniosynostosis, 1 genetic and 1 nutritional, underwent posterior-vault distraction osteogenesis (PVDO). The patient with genetic rickets previously underwent endoscopic-assisted cranial suturectomy of the sagittal suture with barrel-staving at an outside hospital and subsequently re-fused all cranial sutures 19 months postoperatively necessitating reintervention. Complete distraction was confirmed by X-ray and both patients recovered without complication and without re-synostosis at 18 month follow-up. The patient with nutritional rickets required subsequent fronto-facial advancement because of poor midface growth. Conclusion: PVDO effectively treats rachitic craniosynostosis associated with both genetic and nutritional etiologies. Long-term follow up is warranted to monitor for skull-base involvement and associated midface retrusion in these patients. [ABSTRACT FROM AUTHOR]