Journal of Bone and Joint Surgery-british Volume, Sep 1, 2014
Aim In an earlier study we identified severe Vitamin D deficiency as a problem in institutionalis... more Aim In an earlier study we identified severe Vitamin D deficiency as a problem in institutionalised children with cerebral palsy (CP), which resulted in rickets and a high incidence of fractures. The purpose of this study was to establish whether a cohort of non-ambulatory children with CP, living at home, presented with Vitamin D deficiency. Method The participants were a consecutive sample (N=100) of non-ambulatory children with CP attending a CP outpatient clinic. Their ages ranged from 2 to 15 years (mean 5.8, SD 3.3 years). There were 57 males and 43 females. Nineteen were on Level IV of the Gross Motor Function Classification System (GMFCS), and 81 were on Level V. 66% were on anticonvulsant therapy (ACT). Basic demographic data was collected, and measurements included blood sample analysis and wrist radiographs. There was radiographic evidence of osteopenia and delayed ossification of the carpal bones. Results Three participants had Vitamin D deficiency rickets confirmed by wrist changes and serology. There was a significantly higher level of Alkaline Phosphatase (p=0.04) in children on ACT than in those who did not receive ACT. Preliminary results show that one third of the children had Vitamin D deficiency. Conclusion Non ambulatory children with CP are at risk of developing rickets. We recommend regular exposure to sunlight or Vitamin D supplementation as preventative measures. NO DISCLOSURES
Dietary calcium deficiency is considered to be widespread globally, with published estimates sugg... more Dietary calcium deficiency is considered to be widespread globally, with published estimates suggesting that approximately half of the world's population has inadequate access to dietary calcium. Calcium is essential for bone health, but inadequate intakes have also been linked to other health outcomes, including pregnancy complications, cancers, and cardiovascular disease. Populations in low‐ and middle‐income countries (LMICs) are at greatest risk of low calcium intakes, although many individuals in high‐income countries (HICs) also do not meet recommendations. Paradoxically, many LMICs with lower calcium intakes show lower rates of osteoporotic fracture as compared with HICs, though data are sparse. Calcium intake recommendations vary across agencies and may need to be customized based on other dietary factors, health‐related behaviors, or the risk of calcium‐related health outcomes. The lack of standard methods to assess the calcium status of an individual or population has ...
More than two decades ago, a recessive syndromic phenotype affecting kidneys, eyes, and ears, was... more More than two decades ago, a recessive syndromic phenotype affecting kidneys, eyes, and ears, was first described in the endogamous Afrikaner population of South Africa. Using whole‐exome sequencing of DNA from two affected siblings (and their carrier parents), we identified the novel RRM2B c.786G>T variant as a plausible disease‐causing mutation. The RRM2B gene is involved in mitochondrial integrity, and the observed change was not previously reported in any genomic database. The subsequent screening revealed the variant in two newly presenting unrelated patients, as well as two patients in our registry with rod‐cone dystrophy, hearing loss, and Fanconi‐type renal disease. All patients with the c.786G>T variant share an identical 1.5 Mb haplotype around this gene, suggesting a founder effect in the Afrikaner population. We present ultrastructural evidence of mitochondrial impairment in one patient, to support our thesis that this RRM2B variant is associated with the renal, ophthalmological, and auditory phenotype.
The prevalence of biochemical abnormalities usually associated with rickets was investigated in t... more The prevalence of biochemical abnormalities usually associated with rickets was investigated in three black school-going populations, one from a rural community, one from a small urban community, and one from a large urban area. A high prevalence of biochemical abnormalities was found in the rural community, where 13.2% of children were hypocalcemic and 41.5% had elevated alkaline phosphatase concentrations. No hypocalcemia was detected in the children from the large urban area. Urinary calcium excretion was lowest in the community with the highest prevalence of hypocalcimia and elevated alkaline phosphatase concentrations. Dietary calcium intake in those children with biochemical abnormalities was estimated at 125 mg/day, compared with 337 mg/day in those children with normal biochemistry. It is suggested that the pathogenesis of the biochemical abnormalities in the rural community is due to a low dietary intake of calcium.
Journal of Pediatric Gastroenterology and Nutrition, 1984
This study compared growth of a group of very low birth weight infants fed a formula specifically... more This study compared growth of a group of very low birth weight infants fed a formula specifically developed for such infants (Formula) with another group fed expressed breast milk (EBM). The Formula contained 2.4 g/dl of protein (lactalbumin:casein ratio, 60:40); 4.1 g/dl of fat (40% medium-chain triglycerides); 8.8 g/dl of carbohydrates; and 81 kcal/dl, with more calcium, phosphorus, and electrolytes than are in human milk. Premature babies with birth weights between 1,200 and 1,500 g and gestational age less than 36 weeks were eligible for the study and were fed either pooled EBM or Formula until they reached a weight of 1,800 g. Twenty infants fed EBM and 19 infants fed Formula completed the trial. Weight gain was faster in the Formula-fed infants after a caloric intake of 100 kcal/kg/day was achieved (Formula 27.7 g/day vs. EBM 17.2 g/day; p less than 0.001). Time to reach 1,800 g was 27 days for the Formula group and 39 days for those on EBM (p less than 0.001). Increments in head circumference and skinfold thickness were also greater in the Formula-fed group. Laboratory studies in the two groups of infants showed higher alkaline phosphatase levels, which were not due to vitamin D deficiency, in the EBM-fed infants.
Journal of Bone and Joint Surgery-british Volume, Sep 1, 2014
Aim In an earlier study we identified severe Vitamin D deficiency as a problem in institutionalis... more Aim In an earlier study we identified severe Vitamin D deficiency as a problem in institutionalised children with cerebral palsy (CP), which resulted in rickets and a high incidence of fractures. The purpose of this study was to establish whether a cohort of non-ambulatory children with CP, living at home, presented with Vitamin D deficiency. Method The participants were a consecutive sample (N=100) of non-ambulatory children with CP attending a CP outpatient clinic. Their ages ranged from 2 to 15 years (mean 5.8, SD 3.3 years). There were 57 males and 43 females. Nineteen were on Level IV of the Gross Motor Function Classification System (GMFCS), and 81 were on Level V. 66% were on anticonvulsant therapy (ACT). Basic demographic data was collected, and measurements included blood sample analysis and wrist radiographs. There was radiographic evidence of osteopenia and delayed ossification of the carpal bones. Results Three participants had Vitamin D deficiency rickets confirmed by wrist changes and serology. There was a significantly higher level of Alkaline Phosphatase (p=0.04) in children on ACT than in those who did not receive ACT. Preliminary results show that one third of the children had Vitamin D deficiency. Conclusion Non ambulatory children with CP are at risk of developing rickets. We recommend regular exposure to sunlight or Vitamin D supplementation as preventative measures. NO DISCLOSURES
Dietary calcium deficiency is considered to be widespread globally, with published estimates sugg... more Dietary calcium deficiency is considered to be widespread globally, with published estimates suggesting that approximately half of the world's population has inadequate access to dietary calcium. Calcium is essential for bone health, but inadequate intakes have also been linked to other health outcomes, including pregnancy complications, cancers, and cardiovascular disease. Populations in low‐ and middle‐income countries (LMICs) are at greatest risk of low calcium intakes, although many individuals in high‐income countries (HICs) also do not meet recommendations. Paradoxically, many LMICs with lower calcium intakes show lower rates of osteoporotic fracture as compared with HICs, though data are sparse. Calcium intake recommendations vary across agencies and may need to be customized based on other dietary factors, health‐related behaviors, or the risk of calcium‐related health outcomes. The lack of standard methods to assess the calcium status of an individual or population has ...
More than two decades ago, a recessive syndromic phenotype affecting kidneys, eyes, and ears, was... more More than two decades ago, a recessive syndromic phenotype affecting kidneys, eyes, and ears, was first described in the endogamous Afrikaner population of South Africa. Using whole‐exome sequencing of DNA from two affected siblings (and their carrier parents), we identified the novel RRM2B c.786G>T variant as a plausible disease‐causing mutation. The RRM2B gene is involved in mitochondrial integrity, and the observed change was not previously reported in any genomic database. The subsequent screening revealed the variant in two newly presenting unrelated patients, as well as two patients in our registry with rod‐cone dystrophy, hearing loss, and Fanconi‐type renal disease. All patients with the c.786G>T variant share an identical 1.5 Mb haplotype around this gene, suggesting a founder effect in the Afrikaner population. We present ultrastructural evidence of mitochondrial impairment in one patient, to support our thesis that this RRM2B variant is associated with the renal, ophthalmological, and auditory phenotype.
The prevalence of biochemical abnormalities usually associated with rickets was investigated in t... more The prevalence of biochemical abnormalities usually associated with rickets was investigated in three black school-going populations, one from a rural community, one from a small urban community, and one from a large urban area. A high prevalence of biochemical abnormalities was found in the rural community, where 13.2% of children were hypocalcemic and 41.5% had elevated alkaline phosphatase concentrations. No hypocalcemia was detected in the children from the large urban area. Urinary calcium excretion was lowest in the community with the highest prevalence of hypocalcimia and elevated alkaline phosphatase concentrations. Dietary calcium intake in those children with biochemical abnormalities was estimated at 125 mg/day, compared with 337 mg/day in those children with normal biochemistry. It is suggested that the pathogenesis of the biochemical abnormalities in the rural community is due to a low dietary intake of calcium.
Journal of Pediatric Gastroenterology and Nutrition, 1984
This study compared growth of a group of very low birth weight infants fed a formula specifically... more This study compared growth of a group of very low birth weight infants fed a formula specifically developed for such infants (Formula) with another group fed expressed breast milk (EBM). The Formula contained 2.4 g/dl of protein (lactalbumin:casein ratio, 60:40); 4.1 g/dl of fat (40% medium-chain triglycerides); 8.8 g/dl of carbohydrates; and 81 kcal/dl, with more calcium, phosphorus, and electrolytes than are in human milk. Premature babies with birth weights between 1,200 and 1,500 g and gestational age less than 36 weeks were eligible for the study and were fed either pooled EBM or Formula until they reached a weight of 1,800 g. Twenty infants fed EBM and 19 infants fed Formula completed the trial. Weight gain was faster in the Formula-fed infants after a caloric intake of 100 kcal/kg/day was achieved (Formula 27.7 g/day vs. EBM 17.2 g/day; p less than 0.001). Time to reach 1,800 g was 27 days for the Formula group and 39 days for those on EBM (p less than 0.001). Increments in head circumference and skinfold thickness were also greater in the Formula-fed group. Laboratory studies in the two groups of infants showed higher alkaline phosphatase levels, which were not due to vitamin D deficiency, in the EBM-fed infants.
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