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1.
J Pediatr Endocrinol Metab ; 35(2): 223-229, 2022 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-34610231

RESUMO

OBJECTIVES: Nutritional rickets (NR) is still an important problem and one which increasing influxes of immigrants are further exacerbating. This study evaluated cases of mostly immigrant children followed up with diagnoses of NR in our pediatric endocrinology clinic. METHODS: Details of 20 cases diagnosed with NR between 2017 and 2020 were retrieved from file records. RESULTS: Twenty (11 male) cases were included in the study. Three (15%) were Turkish nationals and the others (85%) were immigrants. Hypocalcemia and hypophosphatemia were detected in 17 and 13, respectively. Alkaline phosphatase (ALP) values were normal in two cases, while ALP and parathyroid hormone (PTH) values were elevated in all other cases, and PTH levels were very high (473.64 ± 197.05 pg/mL). 25-hydroxyvitamin D levels were below 20 ng/mL in all cases. Patients with NR received high-dose long-term vitamin D or stoss therapy. Six patients failed to attend long-term follow-up, while PTH and ALP levels and clinical findings improved at long-term follow-up in the other 14 cases. CONCLUSIONS: The elevated PTH levels suggest only the most severe cases of NR presented to our clinic. Clinically evident NR is therefore only the tip of the iceberg, and the true burden of subclinical rickets and osteomalacia remains unidentified. Public health policies should therefore focus on universal vitamin D supplementation and adequate dietary calcium provision, their integration into child surveillance programs, adequate advice and support to ensure normal nutrition, exposure to sunlight, and informing families of the increased risk not only for resident populations but also for refugee and immigrant children.


Assuntos
Emigrantes e Imigrantes , Raquitismo/prevenção & controle , Adolescente , Fosfatase Alcalina/metabolismo , Cálcio na Dieta/administração & dosagem , Criança , Pré-Escolar , Suplementos Nutricionais , Feminino , Humanos , Lactente , Masculino , Hormônio Paratireóideo/sangue , Raquitismo/sangue , Raquitismo/epidemiologia , Vitamina D/administração & dosagem
2.
BMC Endocr Disord ; 22(1): 322, 2022 Dec 19.
Artigo em Inglês | MEDLINE | ID: mdl-36529731

RESUMO

BACKGROUND: Juvenile primary hyperparathyroidism (PHPT) is a rare endocrine disease. Its diagnosis might be masked by clinical, biochemical, and radiological features of rickets. CASE PRESENTATION: A 12-year-old Sudanese boy presented with progressive lower limbs deformity and difficulty in walking for six months. It was associated with fatigability, poor appetite, and generalized bone pain. On examination, he was thin, disproportionately short and pubertal, and had bilateral genu valgum deformity. X-rays showed osteopenia and signs of rickets. Biochemical workup revealed mildly elevated serum calcium, low phosphate, high alkaline phosphatase, and high parathyroid hormone with low 25-hydroxy vitamin D3. Celiac screening, liver function test and renal profile were normal. Serum calcium rose dramatically after vitamin D therapy. Genetic testing was negative for CYP2R1 and MEN1 genes. Ultrasound neck showed left inferior parathyroid adenoma which was surgically excised. Histopathology confirmed the diagnosis of parathyroid adenoma. Postoperatively, he had hypocalcemia which was treated with calcium and alfacalcidol. Corrective surgery is planned for the genu valgum deformity which markedly improved after parathyroidectomy. CONCLUSION: Although PHPT is extremely rare in the young population, it should be considered in patients with rickets and elevated serum calcium at baseline or after initiating vitamin D therapy.


Assuntos
Adenoma , Geno Valgo , Hipercalcemia , Hiperparatireoidismo Primário , Neoplasias das Paratireoides , Raquitismo , Masculino , Humanos , Adolescente , Criança , Neoplasias das Paratireoides/complicações , Hiperparatireoidismo Primário/etiologia , Hiperparatireoidismo Primário/genética , Cálcio/uso terapêutico , Geno Valgo/complicações , Geno Valgo/cirurgia , Adenoma/patologia , Raquitismo/diagnóstico , Raquitismo/tratamento farmacológico , Raquitismo/cirurgia , Paratireoidectomia , Hormônio Paratireóideo , Vitamina D , Hipercalcemia/complicações
3.
BMJ Open ; 12(11): e061146, 2022 Nov 29.
Artigo em Inglês | MEDLINE | ID: mdl-36446458

RESUMO

OBJECTIVES: This study aimed to explore the vitamin D status of children in northern China and the association between vitamin D and glucose metabolism. DESIGN: Cross-sectional study was conducted among child participants and retrospective study designs were conducted among adult participants. SETTING AND PARTICIPANTS: Both studies were recruited from Harbin, 326 children were included in children's study, 8469 adults were included in adult study. PRIMARY AND SECONDARY OUTCOME MEASURES: Physical examination, lifestyle and dietary habit data were recorded in all the participants. Serum insulin, glucose, 25(OH)D3 concentrations in children and serum glucose and lipids levels in adults were measured. Rickets history was also investigated in adults, which was used to define vitamin D deficiency in childhood. The associations were tested by linear regression and binary logistic regression. RESULT: In the children's study, only 10.7% of participants were vitamin D sufficient (≥30 ng/mL). Inverse correlations between serum 25(OH)D3 concentration and fasting insulin and homeostasis model assessment - insulin resistance (HOMA-IR) were found, and children with lower serum 25(OH)D3 concentrations were likely to have insulin resistance (IR) (OR: 0.955, 95% CI: 0.917 to 0.995, p value: 0.027). In an adult study, rickets in childhood increased the risk of type 2 diabetes in male participants (OR=1.414, 95% CI=1.013 to 1.972; p value=0.042), but this result was not observed in female participants. CONCLUSION: Our findings suggest that vitamin D deficiency is widespread in northern China. Vitamin D deficiency in childhood was associated with IR and increased the risk of type 2 diabetes in male adults.


Assuntos
Diabetes Mellitus Tipo 2 , Resistência à Insulina , Raquitismo , Deficiência de Vitamina D , Adulto , Criança , Feminino , Masculino , Humanos , Vitamina D , Estudos Transversais , Estudos Retrospectivos , Diabetes Mellitus Tipo 2/epidemiologia , Vitaminas , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/epidemiologia , Insulina , Glucose , China/epidemiologia
5.
Arch Endocrinol Metab ; 66(5): 748-755, 2022 Nov 11.
Artigo em Inglês | MEDLINE | ID: mdl-36382764

RESUMO

Vitamin D deficiency is a general health problem affecting individuals at all stages of life and on different continents. The musculoskeletal effects of vitamin D are well known. Its deficiency causes rickets, osteomalacia, and secondary hyperparathyroidism and increases the risk of fractures. Clinical and experimental evidence suggests that vitamin D performs multiple extraskeletal functions. Several tissues unrelated to calcium and phosphate metabolism express vitamin D receptor (VDR) and are directly or indirectly influenced by 1,25(OH)2D (calcitriol). Some also express the enzyme 1 alpha-hydroxylase (CYP27B1) and produce 1,25(OH)2D, inducing autocrine or paracrine effects. Among the pleiotropic effects of vitamin D are the regulation of cell proliferation and differentiation, hormone secretion, and immune function. In this review, we outline vitamin D physiology and the outcomes of recent large RCTs on its potential extraskeletal effects. Those studies exhibit a need for continued clinical analysis to elucidate whether vitamin D status can influence extraskeletal health. Longer longitudinal follow-up and standardized assays are crucial to better assess potential outcomes.


Assuntos
Raquitismo , Deficiência de Vitamina D , Humanos , Vitamina D/metabolismo , Deficiência de Vitamina D/complicações , Calcitriol , Vitaminas
6.
Int J Paleopathol ; 39: 93-108, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36335796

RESUMO

OBJECTIVE: this research seeks to investigate the impact the industrial revolution had on the population of England. MATERIALS: Pre-existing skeletal data from 1154 pre-Industrial (1066-1700 CE) and 4157 industrial (1700-1905) skeletons from 21 cemeteries (N = 5411). METHODS: Context number, sex, age-at-death, stature and presence/absence of selected pathological conditions were collated. The data were compared using chi square, Kolmogorov-Smirnov, t-tests and logistic regression (α = 0.01). RESULTS: There was a statistically significant increase in cribra orbitalia, periosteal reactions, rib lesions, fractures, rickets, osteoporosis, osteoarthritis, enamel hypoplasia, dental caries and periapical lesions in the industrial period. Osteomyelitis decreased from the pre-industrial to industrial period. CONCLUSION: Our results confirm the industrial revolution had a significant negative impact on human health, however the prevalence of TB, treponemal disease, maxillary sinusitis, osteomalacia, scurvy, gout and DISH did not change, suggesting these diseases were not impacted by the change in environmental conditions. SIGNIFICANCE: This is the largest study of health in the industrial revolution that includes non-adults and adults and considers age-at-death alongside disease status to date. This data supports the hypothesis that the rise of industry was associated with a significant decline in general health, but not an increase in all pathological conditions.


Assuntos
Cárie Dentária , Osteomalacia , Raquitismo , Humanos , Cemitérios , Inglaterra
7.
Nutrients ; 14(19)2022 Sep 21.
Artigo em Inglês | MEDLINE | ID: mdl-36235561

RESUMO

(1) Background: In the present paper we aimed to review the evidence about the potential implication of vitamin D in the pathogenesis and management of systemic sclerosis (SSc); (2) Methods: we performed a review of the literature looking for studies evaluating the potential role of vitamin D and its analogs in SSc. We searched the PubMed, Medline, Embase, and Cochrane libraries using the following strings: (vitamin D OR cholecalciferol) AND (systemic sclerosis OR scleroderma). We included cohort studies, case-control studies, randomized controlled trials, and observational studies. (3) Results: we identified nine pre-clinical and 21 clinical studies. Pre-clinical data suggest that vitamin D and its analogs may suppress fibrogenesis. Clinical data are concordant in reporting a high prevalence of hypovitaminosis D and osteoporosis in SSc patients; data about the association with clinical manifestations and phenotypes of SSc are, conversely, far less consistent; (4) Conclusions: in vitro data suggest that vitamin D may play an antifibrotic role in SSc, but clinical data confirming this finding are currently lacking. Hypovitaminosis D is common among SSc patients and should be treated to reduce the risk of osteoporosis.


Assuntos
Osteoporose , Raquitismo , Escleroderma Sistêmico , Deficiência de Vitamina D , Colecalciferol , Humanos , Osteoporose/epidemiologia , Osteoporose/etiologia , Osteoporose/prevenção & controle , Raquitismo/complicações , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/epidemiologia , Vitamina D/uso terapêutico , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/epidemiologia , Vitaminas
8.
Nutrients ; 14(19)2022 Sep 22.
Artigo em Inglês | MEDLINE | ID: mdl-36235588

RESUMO

BACKGROUND: Early childhood rickets increased in Alaska Native children after decreases in vitamin D-rich subsistence diet in childbearing-aged women. We evaluated the impact of routine prenatal vitamin D supplementation initiated in Alaska's Yukon Kuskokwim Delta in Fall 2016. METHODS: We queried electronic health records of prenatal women with 25(OH) vitamin D testing during the period 2015-2019. We evaluated 25(OH)D concentrations, vitamin D3 supplement refills, and decayed, missing, and filled teeth (dmft) scores and rickets in offspring. RESULTS: Mean 25(OH)D concentrations increased 36.5% from pre- to post-supplementation; the percentage with deficient 25(OH)D decreased by 66.4%. Women with ≥ 60 vitamin D3 refill days had higher late pregnancy 25(OH)D concentrations than those with no refill days (p < 0.0001). Women with late pregnancy insufficient 25(OH)D concentrations had offspring with higher dmft scores than those with sufficient 25(OH)D (RR 1.3, p < 0.0001). Three children were diagnosed with nutritional rickets during the period 2001-2021, and none after 2017. CONCLUSIONS: These findings suggest that prenatal vitamin D supplementation can improve childhood outcomes in high-risk populations with high rates of rickets.


Assuntos
Nativos do Alasca , Cárie Dentária , Raquitismo , Deficiência de Vitamina D , Idoso , Criança , Pré-Escolar , Colecalciferol , Cárie Dentária/epidemiologia , Cárie Dentária/prevenção & controle , Suscetibilidade à Cárie Dentária , Suplementos Nutricionais , Feminino , Humanos , Gravidez , Raquitismo/epidemiologia , Raquitismo/prevenção & controle , Vitamina D , Deficiência de Vitamina D/tratamento farmacológico , Deficiência de Vitamina D/epidemiologia , Vitaminas/uso terapêutico
9.
Front Endocrinol (Lausanne) ; 13: 981090, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36246927

RESUMO

Background: The thyroid hormone receptor-like (THR-like) family is the largest transcription factors family belonging to the nuclear receptor superfamily, which directly binds to DNA and regulates the gene expression and thereby controls various metabolic processes in a ligand-dependent manner. The THR-like family contains receptors THRs, RARs, VDR, PPARs, RORs, Rev-erbs, CAR, PXR, LXRs, and others. THR-like receptors are involved in many aspects of human health, including development, metabolism and homeostasis. Therefore, it is considered an important therapeutic target for various diseases such as osteoporosis, rickets, diabetes, etc. Methods: In this study, we have performed an extensive sequence and structure analysis of the ligand-binding domain (LBD) of the THR-like family spanning multiple taxa. We have use different computational tools (information-theoretic measures; relative entropy) to predict the key residues responsible for fold and functional specificity in the LBD of the THR-like family. The MSA of THR-like LBDs was further used as input in conservation studies and phylogenetic clustering studies. Results: Phylogenetic analysis of the LBD domain of THR-like proteins resulted in the clustering of eight subfamilies based on their sequence homology. The conservation analysis by relative entropy (RE) revealed that structurally important residues are conserved throughout the LBDs in the THR-like family. The multi-harmony conservation analysis further predicted specificity in determining residues in LBDs of THR-like subfamilies. Finally, fold and functional specificity determining residues (residues critical for ligand, DBD and coregulators binding) were mapped on the three-dimensional structure of thyroid hormone receptor protein. We then compiled a list of natural mutations in THR-like LBDs and mapped them along with fold and function-specific mutations. Some of the mutations were found to have a link with severe diseases like hypothyroidism, rickets, obesity, lipodystrophy, epilepsy, etc. Conclusion: Our study identifies fold and function-specific residues in THR-like LBDs. We believe that this study will be useful in exploring the role of these residues in the binding of different drugs, ligands, and protein-protein interaction among partner proteins. So this study might be helpful in the rational design of either ligands or receptors.


Assuntos
Receptores dos Hormônios Tireóideos , Raquitismo , DNA , Humanos , Ligantes , Receptores Ativados por Proliferador de Peroxissomo/genética , Filogenia , Receptores dos Hormônios Tireóideos/genética , Fatores de Transcrição/metabolismo
11.
Pan Afr Med J ; 42: 161, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36187048

RESUMO

Bowing of the legs is common in childhood. Most times it is considered to be rickets without considering other possibilities. Blount´s disease is a close differential diagnosis which is developmental deformity characterized by intorsion of tibia leading to varus angulation. This case report aims to encourage pediatricians to expand their vision and consider other possibilities when a case of bowing of legs is encountered. Here we report a case of a four-year-old boy with bowing of both legs noticed first at 2.5 years of age. There was no history suggestive of trauma. Development of the child was age appropriate in all domains. He was receiving treatment for rickets for 1.5 years in form of oral vitamin D3 and calcium supplementations. He had no other clinical signs of rickets like frontal bossing, widening of wrists, and rachitic rosary except bowing of legs. His biochemical parameters did not show any alterations that would support the diagnosis of rickets. Weight-bearing radiographs of lower limbs showed medial intorsion of bilateral tibia with metaphyseo-diaphysial angle to be 25º on the right side and 20º on the left side, which was beyond the physiological normal angulation, therefore he was diagnosed as a case of Blount´s disease, stage III as per Langenskiöld classification. All the bow legs is not always rickets in pediatric practice. Therefore, various differential diagnoses should be kept in mind as early diagnosis and intervention can change a child´s life.


Assuntos
Genu Varum , Raquitismo , Doenças do Desenvolvimento Ósseo , Cálcio , Criança , Pré-Escolar , Colecalciferol , Genu Varum/complicações , Humanos , Masculino , Osteocondrose/congênito , Raquitismo/diagnóstico , Raquitismo/tratamento farmacológico , Raquitismo/etiologia , Tíbia
12.
J Biomech ; 144: 111314, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36182792

RESUMO

Ossification of growth plate cartilage mediates longitudinal extension of long bones. Biomechanical and biochemical disruptions of growth plate function may lead to abnormal bone growth. In humans and animals, severe dietary vitamin D deficiency can lead to rickets which features growth plate widening, resulting in abnormalities in growth. However, effects of marginal vitamin D deficiencies on growth plates are not well understood. The purpose of this study was to examine the effects of a vitamin D deficient diet in the 26-day nursery phase on mechanical properties (ultimate normal stress, ultimate shear stress, ultimate strain, and tangent modulus) of porcine growth plate. Standard uniaxial tensile tests were applied on bone-growth plate-bone sections and the total stress was decomposed into normal stress and shear stress. Ultimate shear stress and ultimate strain traits were lower in the vitamin D deficient group than in the control. Regional differences were observed in all four variables. Ultimate normal stress was higher in the anterior region, which was consistent with a previous study. Sex differences were detected in ultimate normal stress, which was higher in females than in males. Interestingly, the classical finding of growth plate widening seen in severe vitamin D deficiency was not observed in the pigs with marginal vitamin D deficiency utilized in this study.


Assuntos
Raquitismo , Deficiência de Vitamina D , Humanos , Suínos , Feminino , Masculino , Animais , Lâmina de Crescimento , Estresse Mecânico , Vitamina D
13.
J Pediatr Endocrinol Metab ; 35(11): 1369-1376, 2022 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-36190481

RESUMO

OBJECTIVES: Children with epilepsy are at increased risk of vitamin D deficiency. We aimed to compare the effect of two ergocalciferol regimens given for 90 days. METHODS: Epileptic patients aged 5-18 years who received at least one antiepileptic drug (AED) for more than 6 months and had serum 25-OHD <30 ng/mL were randomized to receive 20,000 IU/10 d (standard dose, n=41) or 60,000 IU/10 d (high dose, n=41) of oral ergocalciferol. Serum Ca, P, Mg, ALP, iPTH and urine Ca/Cr ratio were measured at baseline and after 90 days of treatment. Change in serum 25-OHD and vitamin D status after treatment was evaluated. RESULTS: The initial serum 25-OHD in the standard dose and high dose group was 19.5 ± 4.9 and 18.4 ± 4.6 ng/mL, respectively. Serum 25-OHD after treatment was significantly higher in the high dose group (39.0 ± 11.5 vs. 27.5 ± 8.6 ng/mL, p<0.05). The average increase in serum 25-OHD in the high dose and standard dose group was 20.6 ± 11.4 and 7.2 ± 7.5 ng/mL, respectively (p<0.05). Normalized serum 25-OHD was achieved in 80.5% of the high dose group compared to 36.6% of the standard dose group (p<0.05). No adverse events were found. Patients with a BMI Z-score>0 had a 2.5 times greater risk of continued hypovitaminosis D after treatment compared to those with a BMI Z-score<0 (95% CI: 1.0-5.9, p<0.05). CONCLUSIONS: Oral ergocalciferol 60,000 IU/10 d for 90 days was more effective at normalizing serum 25-OHD than 20,000 IU/10 d in epileptic children and adolescents who were receiving AEDs.


Assuntos
Epilepsia , Raquitismo , Deficiência de Vitamina D , Criança , Humanos , Adolescente , Vitamina D , Raquitismo/tratamento farmacológico , Vitaminas/uso terapêutico , Ergocalciferóis/uso terapêutico
15.
Indian Pediatr ; 59(11): 852-858, 2022 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-36148748

RESUMO

OBJECTIVE: To compare the efficacy of sunlight exposure and oral vitamin D3 supplementation to achieve vitamin D sufficiency in infants at 6 months of age. DESIGN: Open-label randomized controlled trial. SETTING: Public hospital in Northern India (28.7°N). PARTICIPANT: Breastfed infants at 6-8 weeks of age. INTERVENTION: Randomized to receive sunlight exposure (40% body surface area for a minimum of 30 minutes/week) or oral vitamin D3 supplementation (400 IU/day) till 6 months of age. OUTCOME: Primary - proportion of infants having vitamin D sufficiency (>20 ng/mL). Secondary - proportion of infants developing vitamin D deficiency (<12ng/mL) and rickets in both the groups at 6 months of age. RESULTS: Eighty (40 in each group) infants with mean (SD) age 47.8 (4.5) days were enrolled. The proportion of infants with vitamin D sufficiency increased after intervention in the vitamin D group from 10.8% to 35.1% (P=0.01) but remained the same in sunlight group (13.9%) and was significant on comparison between both groups (P=0.037). The mean (SD) compliance rate was 72.9 (3.4) % and 59.7 (23.6) % in the vitamin D and sunlight group, respectively (P=0.01). The geometric mean (95% CI) serum 25(OH) D levels in the vitamin D and sunlight group were 16.23 (13.58-19.40) and 11.89 (9.93-14.23) ng/mL, respectively; (P=0.02), after adjusting baseline serum 25(OH)D with a geometric mean ratio of 1.36 (1.06-1.76). Two infants in sunlight group developed rickets. CONCLUSION: Oral vitamin D3 supplementation is more efficacious than sunlight in achieving vitamin D sufficiency in breastfed infants during the first 6 months of life due to better compliance.


Assuntos
Raquitismo , Deficiência de Vitamina D , Lactente , Feminino , Humanos , Pessoa de Meia-Idade , Vitamina D , Luz Solar , Suplementos Nutricionais , Deficiência de Vitamina D/tratamento farmacológico , Deficiência de Vitamina D/epidemiologia , Deficiência de Vitamina D/prevenção & controle , Vitaminas/uso terapêutico , Colecalciferol
16.
Int J Mol Sci ; 23(15)2022 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-35955580

RESUMO

The Vitamin D receptor (VDR) plays a key role in calcium homeostasis, as well as in cell proliferation and differentiation. Among the large number of VDR ligands that have been developed, we have previously shown that BXL-62 and Gemini-72, two C-20-modified vitamin D analogs are highly potent VDR agonists. In this study, we show that both VDR ligands restore the transcriptional activities of VDR variants unresponsive to the natural ligand and identified in patients with rickets. The elucidated mechanisms of action underlying the activities of these C-20-modified analogs emphasize the mutual adaptation of the ligand and the VDR ligand-binding pocket.


Assuntos
Receptores de Calcitriol , Raquitismo , Humanos , Ligantes , Ligação Proteica , Receptores de Calcitriol/agonistas , Vitamina D
18.
Gene ; 844: 146809, 2022 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-35973571

RESUMO

The aim of this study was to identify the genetic basis of two female siblings - born to consanguineous Sudanese parents - diagnosed clinically as having the rare condition of 25-hydroxylase deficiency (vitamin D-dependent rickets type 1B). The initial diagnosis was established based on clinical data, laboratory and radiological findings retrospectively. Primers for all exons (5) of human CYP2R1 (NM_024514) were generated followed by Sanger sequencing on exons 1-5 for both girls and their parents. Homozygosity for a point mutation (c.85C > T) was detected, leading to a nonsynonymous variant at position 29 in exon 1, resulting in a premature stop codon (p.Q29X). This is a previously unknown variant that leads to a severely truncated protein and predicted to be among the 0.1 % most deleterious genomic variants(CADD score 36). To our knowledge, this family represents the first case series from Sudan with a confirmed CYP2R1 gene mutation and the 6th world-wide. With the lack of genetic facilities, diagnosis should be suspected by the persistently low 25 hydroxyvitamin D level in spite of proper treatment and after ruling out liver disease and malabsorption. Patients in this case series showed healing of rickets when treated with high doses of 1,25-dihydroxyvitamin D3 (1,25(OH)D3; calcitriol) and oral calcium.


Assuntos
Raquitismo , Calcitriol , Colestanotriol 26-Mono-Oxigenase/genética , Colestanotriol 26-Mono-Oxigenase/metabolismo , Sistema Enzimático do Citocromo P-450/genética , Família 2 do Citocromo P450/genética , Feminino , Humanos , Biologia Molecular , Mutação , Receptores de Calcitriol/genética , Estudos Retrospectivos , Raquitismo/tratamento farmacológico , Raquitismo/genética
19.
Ann N Y Acad Sci ; 1517(1): 93-106, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36044378

RESUMO

Inadequate dietary calcium intake is a global public health problem that disproportionately affects low- and middle-income countries. However, the calcium status of a population is challenging to measure, and there are no standard methods to identify high-risk communities even in settings with an elevated prevalence of a disease caused or exacerbated by low calcium intake (e.g., rickets). The calcium status of a population depends on numerous factors, including intake of calcium-rich foods; the bioavailability of the types of calcium consumed in foods and supplements; and population characteristics, including age, sex, vitamin D status, and genetic attributes that influence calcium retention and absorption. The aim of this narrative review was to assess candidate indicators of population-level calcium status based on a range of biomarkers and measurement methods, including dietary assessment, calcium balance studies, hormonal factors related to calcium, and health outcomes associated with low calcium status. Several promising approaches were identified, but there was insufficient evidence of the suitability of any single indicator to assess population calcium status. Further research is required to develop and validate specific indicators of calcium status that could be derived from the analysis of data or samples that are feasibly collected in population-based surveys.


Assuntos
Raquitismo , Deficiência de Vitamina D , Humanos , Cálcio na Dieta , Cálcio , Vitamina D
20.
BMC Pediatr ; 22(1): 437, 2022 07 21.
Artigo em Inglês | MEDLINE | ID: mdl-35864501

RESUMO

BACKGROUND: Caffeine is a routinely prescribed pharmacological active compound in neonatal intensive care units (NICU) for treating apnea of prematurity (AOP), which also decreases the risk of bronchopulmonary dysplasia and cerebral palsy in neonates. Caffeine-induced excessive calcium loss can promote the development of metabolic bone disease (MBD) in preterm neonates. This study aimed to evaluate the effect of the caffeine regimen on the development of osteopenia of prematurity (OOP), using serum alkaline phosphatase (serum-ALP) concentrations as a surrogate marker at the 4th week of life. METHODS: This retrospective cohort study was conducted including neonates of < 32 weeks gestational age (GA) and birth weight < 1500 g, admitted to NICU from April-2017 to December-2018 and received caffeine therapy till 28 days of life for AOP. Based on serum-ALP levels, formed the high and low-ALP groups. Neonatal characteristics, caffeine regimen, risk factors for OOP, including duration of parenteral nutrition (PN), exposure to medicines associated with MBD, and intake of essential vitamins and minerals, were compared in both groups. Predictors of OOP were analyzed through logistic regression. RESULTS: From the total of 268 participants, 52 (19%) developed OOP, mostly female (61.5%). In the high ALP group, the serum-ALP levels were significantly higher than in the low-ALP group (725.0 ± 143.8 vs 273.6 ± 55.0 units/L, p < 0.001). The high-ALP group received significantly (p < 0.001) higher daily and cumulative caffeine doses and were associated with a higher likelihood of developing OOP in this study cohort [cumulative dose (mg) (AOR = 1.082 95% CI 1.011 to 1.157) and daily dose (mg/kg/day) (AOR = 2.892 95% CI 1.392 to 6.007)]. Smaller GA was found directly related to OOP. Among the other medical risk factors, phosphorus intake was significantly low in the high-ALP group. No, significant relationship between duration of PN and use of steroids and diuretics, and intake of vitamins and minerals were identified. CONCLUSION: The daily and cumulative doses of caffeine and smaller GA are associated with the development of OOP in this study cohort. Clinical randomized control studies are needed to validate the outcomes and determine the range of safest and most effective caffeine doses for treating AOP in preterm neonates.


Assuntos
Doenças Ósseas Metabólicas , Raquitismo , Síndromes da Apneia do Sono , Doenças Ósseas Metabólicas/induzido quimicamente , Doenças Ósseas Metabólicas/tratamento farmacológico , Cafeína/efeitos adversos , Estudos de Coortes , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Recém-Nascido de muito Baixo Peso , Masculino , Estudos Retrospectivos , Vitaminas
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