Short Stature
Mostrando 1-12 de 267 artigos, teses e dissertações.
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1. Correlation of body mass index to Ghrelin and IGF-1 among children with short stature
Abstract Objective: To assess the BMI among children with Growth Hormone Deficiency (GHD) and Idiopathic Short Stature (ISS) and its correlation to ghrelin, Growth Hormone (GH), and Insulin-like Growth Factor-1 (IGF-1) levels. Methods: A cross-sectional descriptive study in which 42 patients attending the Pediatric endocrine clinic were enrolled, allocated
Jornal de Pediatria. Publicado em: 2022
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2. General anesthesia for old Werner syndrome patient: a case report
Abstract Werner syndrome (WS) is a rare autosomal recessive, premature aging disorder whose clinical manifestations include short stature, bilateral cataracts, diabetes mellitus, hypertension, and atherosclerosis. WS first manifests during adolescence and patients usually die at 40–50 years of age. Only symptomatic treatment options available according to
Brazilian Journal of Anesthesiology. Publicado em: 2022
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3. Art and science: impact of semioccluded vocal tract exercises and choral singing on quality of life in subjects with congenital GH deficiency
ABSTRACT Objectives: Currently, not much is known about the interactions between voice and growth hormone (GH). We have described large kindred with isolated GH deficiency (IGHD) due to a GHRH receptor mutation, resulting in severe short stature and high-pitched voice. These IGHD individuals have little interest in GH treatment, as they consider themselves
Archives of Endocrinology and Metabolism. Publicado em: 2022
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4. Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant
SUMMARY We present the unique case of an adult Brazilian woman with severe short stature due to growth hormone deficiency with a heterozygous G to T substitution in the donor splice site of intron 3 of the growth hormone 1 (GH1) gene (c.291+1G>T). In this autosomal dominant form of growth hormone deficiency (type II), exon 3 skipping results in expression of
Archives of Endocrinology and Metabolism. Publicado em: 2022
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5. Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study
ABSTRACT BACKGROUND: Turner syndrome (TS) is a rare genetic disease. Understanding its clinical findings contributes to better management of clinical conditions. OBJECTIVE: To investigate the clinical and karyotypic characteristics of patients diagnosed with TS at two reference services for clinical genetics in southern Brazil. DESIGN AND SETTING: Retrosp
Sao Paulo Med. J.. Publicado em: 2021-05
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6. Economic inequality in prevalence of underweight and short stature in children and adolescents: the weight disorders survey of the CASPIAN-IV study
ABSTRACT Objective: The aim of this study was to determine the determinants of socio-economic inequality in the prevalence of short stature and underweight in Iranian children and adolescents. Subjects and methods: This cross-sectional nationwide study was conducted on 36,486 participants, aged 6-18 years. This school-based surveillance (CASPIAN- IV) progr
Arch. Endocrinol. Metab.. Publicado em: 2020-10
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7. 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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8. 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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9. Neonatal presentation of growth hormone deficiency in CHARGE syndrome: the benefit of early treatment on long-term growth
SUMMARY CHARGE syndrome is a complex disorder involving multiple congenital anomalies and is caused by heterozygous mutations in the CHD7 gene. Growth retardation is a characteristic finding and about 10% of cases present growth hormone (GH) deficiency. GH treatment of short stature in CHARGE syndrome has shown some benefit, but normal height is rarely attai
Arch. Endocrinol. Metab.. Publicado em: 2020-08
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10. An Investigation of Hearing (250-20,000 Hz) in Children with Endocrine Diseases and Evaluation of Tinnitus and Vertigo Symptoms
Abstract Introduction Despite much advancement in medicine, endocrine and metabolic diseases remain an important cause of morbidity and even mortality in children. Objective The present study was planned to investigate the evaluation of hearing that also includes high frequencies, and the presence and degree of vertigo and tinnitus symptoms in pediatric
Int. Arch. Otorhinolaryngol.. Publicado em: 2020-06
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11. Perspectives on long-acting growth hormone therapy in children and adults
ABSTRACT Growth hormone therapy with daily injections of recombinant human growth hormone has been available since 1985, and is shown to be safe and effective treatment for short stature in children and for adult growth hormone deficiency. In an effort to produce a product that would improve patient adherence, there has been a strong effort from industry to
Arch. Endocrinol. Metab.. Publicado em: 10/01/2020
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12. Lauraceae Along an Altitudinal Gradient in Southern Brazil
ABSTRACT We performed a phytosociological study on an altitudinal gradient in Lauráceas State Park (Parque Estadual das Lauráceas/PR), aiming to describe the Montane Atlantic Rain Forest, to verify the importance of Lauraceae, and to evaluate the communities’ successional stage. We distributed survey units (2,000 m2 quadrats) along an altitudinal gradien
Floresta Ambient.. Publicado em: 07/11/2019