Rickets
Mostrando 1-12 de 92 artigos, teses e dissertações.
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1. New treatments for rare bone diseases: hypophosphatemic rickets/osteomalacia
Abstract Phosphorus is one of the most abundant minerals in the human body; it is required to maintain bone integrity and mineralization, in addition to other biological processes. Phosphorus is regulated by parathyroid hormone, 1,25-dihydroxyvitamin D3 [1,25(OH)2D3], and fibroblast growth factor 23 (FGF-23) in a complex set of processes that occur in the gu
Archives of Endocrinology and Metabolism. Publicado em: 2022
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2. Vitamin D metabolism and extraskeletal outcomes: an update
ABSTRACT 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
Archives of Endocrinology and Metabolism. Publicado em: 2022
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3. A two-year follow-up of asfotase alfa replacement in a patient with hypophosphatasia: clinical, biochemical, and radiological evaluation
SUMMARY Hypophosphatasia (HPP) is a rare disease with a high mortality rate in its severe forms. It is caused by mutations within the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme responsible for bone mineralization. In 2015, the Food and Drug Administration approved the use of asfotase alfa, the first medication showing benef
Arch. Endocrinol. Metab.. Publicado em: 2020-10
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4. Treatment of insomnia with repetitive transcranial magnetic stimulation (rTMS) in a patient with posttraumatic stress disorder (PTSD)
SUMMARY Hypophosphatasia (HPP) is a rare disease with a high mortality rate in its severe forms. It is caused by mutations within the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme responsible for bone mineralization. In 2015, the Food and Drug Administration approved the use of asfotase alfa, the first medication showing benef
Arch. Clin. Psychiatry (São Paulo). Publicado em: 2020-10
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5. Lysosomal acid lipase deficiency in Brazilian children: a case series
Resumo: Objetivo: Descrever as características demográficas, clínicas, laboratoriais e moleculares de pacientes com deficiência de lipase ácida lisossomal. Métodos: Análise retrospectiva dos prontuários médicos de crianças com a deficiência de lipase ácida lisossomal. Resultados: Sete crianças com deficiência de lipase ácida lisossomal (5 M
J. Pediatr. (Rio J.). Publicado em: 28/10/2019
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6. Late Diagnosis of Fanconi-Bickel Syndrome: Challenges With the Diagnosis and Literature Review
Abstract Fanconi-Bickel syndrome (FBS), also known as glycogen storage disease type XI (GSD XI), is a rare autosomal recessive disorder of carbohydrate metabolism. It is caused by mutations in the gene SLC2A2, which encodes for the facilitative glucose transporter GLUT2. Diagnosis of FBS is often delayed since the clinical features and laboratory markers oft
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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7. A rare mutation in hypophosphatasia: a case report of adult form and review of the literature
SUMMARY Hypophosphatasia is a rare inborn error of metabolism characterized by low serum alkaline phosphatase activity due to loss-of-function mutations in the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Extracellular accumulation of TNSALP substrates leads to dento-osseous and arthritic complications featuring tooth loss
Arch. Endocrinol. Metab.. Publicado em: 2019-01
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8. Alopecia in patients with vitamin D-resistant rickets type-II
An. Bras. Dermatol.. Publicado em: 2017-03
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9. Dental manifestations of patient with Vitamin D-resistant rickets
Patients with Vitamin D-resistant rickets have abnormal tooth morphology such as thin globular dentin and enlarged pulp horns that extend into the dentino-enamel junction. Invasion of the pulp by microorganisms and toxins is inevitable. The increased fibrotic content of the pulp, together with a reduced number of odontoblasts, decreases the response to pulp
J. Appl. Oral Sci.. Publicado em: 2013-12
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10. Mycobacterium leprae downregulates the expression of PHEX in Schwann cells and osteoblasts
Neuropathy and bone deformities, lifelong sequelae of leprosy that persist after treatment, result in significant impairment to patients and compromise their social rehabilitation. Phosphate-regulating gene with homologies to endopeptidase on the X chromosome (PHEX) is a Zn-metalloendopeptidase, which is abundantly expressed in osteoblasts and many other cel
Memórias do Instituto Oswaldo Cruz. Publicado em: 2010-08
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11. Dental abnormalities and oral health in patients with Hypophosphatemic rickets
INTRODUCTION: Hypophosphatemic rickets represents a group of heritable renal disorders of phosphate characterized by hypophosphatemia, normal or low serum 1,25 (OH)2 vitamin D and calcium levels. Hypophosphatemia is associated to interglobular dentine and an enlarged pulp chambers. AIM: Our goal was to verify the dental abnormalities and the oral health cond
Clinics. Publicado em: 2010
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12. Occlusal force, masticatory cycles and mandibular flexure of subjects with different facial types / Força de mordida, ciclos mastigatorios e deflexão mandibular em individuos com diferentes tipos faciais
Bite force can influence the development of the masticatory function and consequently the rehabilitation therapeutics. The high variability of this muscular function indicator can be associated to intrinsic aspects of the stomatognathic system such as the vertical facial morphology. However, the influence of this morphology on the maximum bite force and func
Publicado em: 2008