A5026811024- Sexual Differentiation and Disorders
- Connective tissue disorders research
- Health, Nursing, Elderly Care
- Diabetes Management and Education
- Bone fractures and treatments
- Thyroid Disorders and Treatments
- Congenital heart defects research
- Hip disorders and treatments
- Metabolism and Genetic Disorders
- Neuroscience of respiration and sleep
- Genetic Syndromes and Imprinting
- Urological Disorders and Treatments
- Blood groups and transfusion
- Diabetes Management and Research
Hospital Infantil Joana de Gusmão
2014-2023
Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. Children adolescents with OI require periodic medical follow up, corrective surgery, drug therapy physical therapy, as well specific daily care practices. In addition, they have an increased incidence fractures, which immobilization cause severe discomfort short-term disability. This study evaluated the health-related quality life children in two reference centers for treatment southern...
Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of Department Health State Santa Catarina (Secretaria de Estado da Saúde Catarina, SES/SC), and provide information to improve program.Descriptive, retrospective study 748,395 children screened between January 2001 December 2010. We analyzed coverage NSP-SES/SC prevalence CAH, child's age when first sample 17-hydroxyprogesterone (17OHP) measurement was collected, levels 17OHP, mean at treatment onset main...
To assess the implications of changing cutoff level TSH from 10 to 6 mIU/L.The study population was constituted by 74.123 children screened for congenital hypothyroidism National Screening Program in Santa Catarina, March 2011 February 2012. The mIU/L. If between 6-10 mIU/L, newborn recalled a second measurement on filter paper. > mIU/L sample, child sent medical evaluation. In with normal topic thyroid, levothyroxine suspended 1 month at age 3 years identification etiology and evaluation...
SUMMARY Beckwith-Wiedemann syndrome (BWS) is a common genetic congenital disease characterized by somatic overgrowth and its broad clinical spectrum includes pre- post-natal macrosomia, macroglossia, visceromegaly, increased risk of neonatal hypoglycemia, development embryonic tumors. BWS occurs due to genetic/epigenetic changes involving growth-regulating genes, located on region 11p15, with an important genotype-phenotype correlation. Congenital adrenal hyperplasia (CAH) comprises...
Objetivo: identificar conhecimentos e atitudes de crianças escolares com diabetes tipo 1 frente complicações agudas da doença. Método: estudo exploratório, qualitativo, que utilizou fantoches como estratégia coleta dados. Crianças entre sete 12 anos, pelo menos um ano diagnóstico, seguidas em ambulatório infantil Santa Catarina, Brasil, foram entrevistadas. Análise conteúdo dedutiva foi realizada. Resultados: participantes demonstraram pobre conhecimento manejo dos episódios hiperglicemia, o...