Impact of the reduction in TSH cutoff level to 6 mIU/L in neonatal screening for congenital hypothyroidism in Santa Catarina: final results.

OBJECTIVE: To assess the implications of changing the cutoff level of TSH from 10 to 6 mIU/L. METHODS: The study population was constituted by 74.123 children screened for congenital hypothyroidism by the National Screening Program in Santa Catarina, from March 2011 to February 2012. The cutoff of TSH was 6 mIU/L. If TSH between 6-10 mIU/L, the newborn was recalled for a second TSH measurement on filter paper. If TSH > 6 mIU/L in the second sample, the child was sent for medical evaluation. In children with normal topic thyroid, levothyroxine was suspended for 1 month at the age of 3 years for identification of the etiology and evaluation of the need to continue treatment. RESULTS: Among the children screened, 435 were recalled for presenting TSH between 6 and 10 mIU/L in the first sample, 28 remained TSH > 6 mIU/L in the second sample. Among these, 11 had a final diagnosis of dyshormonogenesis, two of ectopic thyroid, two of thyroid hypoplasia and one of transient hypothyroidism. Ten children presented normal TSH levels on the first medical evaluation and two lost follow-up. CONCLUSION: A decrease in the TSH cutoff level from 10 to 6 mIU/L in a neonatal screening program for congenital hypothyroidism reduced the number of false-negative results, increasing the sensitivity of the test, but increased the number of false-positive results and recalls. Since a TSH cutoff level of 6 mIU/L detects thyroid function abnormalities requiring treatment, the adoption of this cutoff level is justified.

Impact of the reduction in TSH cutoff level to 6 mIU/L in neonatal screening for congenital hypothyroidism in Santa Catarina: final results

ABSTRACT Oubjective: To assess the implications of changing the cutoff level of TSH from 10 to 6 mIU/L. Subjects and methods: The study population was constituted by 74.123 children screened for congenital hypothyroidism by the National Screening Program in Santa Catarina, from March 2011 to February 2012. The cutoff of TSH was 6 mIU/L. If TSH between 6-10 mIU/L, the newborn was recalled for a second TSH measurement on filter paper. If TSH > 6 mIU/L in the second sample, the child was sent for medical evaluation. In children with normal topic thyroid, levothyroxine was suspended for 1 month at the age of 3 years for identification of the etiology and evaluation of the need to continue treatment. Results: Among the children screened, 435 were recalled for presenting TSH between 6 and 10 mIU/L in the first sample, 28 remained TSH > 6 mIU/L in the second sample. Among these, 11 had a final diagnosis of dyshormonogenesis, two of ectopic thyroid, two of thyroid hypoplasia and one of transient hypothyroidism. Ten children presented normal TSH levels on the first medical evaluation and two lost follow-up. Conclusion: A decrease in the TSH cutoff level from 10 to 6 mIU/L in a neonatal screening program for congenital hypothyroidism reduced the number of false-negative results, increasing the sensitivity of the test, but increased the number of false-positive results and recalls. Since a TSH cutoff level of 6 mIU/L detects thyroid function abnormalities requiring treatment, the adoption of this cutoff level is justified.

Chronic Metabolic Derangement-Induced Cognitive Deficits and Neurotoxicity Are Associated with REST Inactivation.

Chronic metabolic alterations may represent a risk factor for the development of cognitive impairment, dementia, or neurodegenerative diseases. Hyperglycemia and obesity are known to imprint epigenetic markers that compromise the proper expression of cell survival genes. Here, we showed that chronic hyperglycemia (60 days) induced by a single intraperitoneal injection of streptozotocin compromised cognition by reducing hippocampal ERK signaling and by inducing neurotoxicity in rats. The mechanisms appear to be linked to reduced active DNA demethylation and diminished expression of the neuroprotective transcription factor REST. The impact of the relationship between adiposity and DNA hypermethylation on REST expression was also demonstrated in peripheral blood mononuclear cells in obese children with reduced levels of blood ascorbate. The reversible nature of epigenetic modifications and the cognitive impairment reported in obese children, adolescents, and adults suggest that the correction of the anthropometry and the peripheral metabolic alterations would protect brain homeostasis and reduce the risk of developing neurodegenerative diseases.

Avaliação somatotrófica tardia em pacientes adultos que sofreram traumatismo crânio-encefálico grave / Late evaluation of the somatotroph axis in survivors of severe traumatic brain injury

Introdução: O eixo hipotálamo-hipófise pode sofrer alterações no traumatismo crânio-encefálico (TCE), com consequente hipopituitarismo. A deficiência hormonal mais comum nesses casos é do hormônio de crescimento (GH). O presente estudo pretende avaliar o eixo somatotrófico em pacientes vítimas de TCE grave, ocorridos entre os anos de 2000 a 2004, na região da grande Florianópolis (SC). Métodos: Após avaliação clínica dos pacientes (n=30) com história prévia de TCE grave(Escala de Coma de Glasgow igual ou inferior a 8), foi realizada dosagem de GH basal e IGF-I (Insulin-like growth factor-I). Resultados: Dos 30 pacientes avaliados, 73,3% eram homens e 26,7% mulheres. As principaiscausas de TCE foram acidentes automobilísticos (63,3%) e quedas (23,3%). Onze pacientes (36,7%) apresentaram GH baixo e todos eram do sexo masculino. A média de idade dos pacientes com GH baixo foi 31,6anos. Seis pacientes (20%) apresentaram IGF-I baixo, sendo 04 homens e 02 mulheres. A média de idade foi de 46,5 anos. O tempo médio entre o TCE e a avaliação clínica e laboratorial para o GH e IGF-I foi de aproximadamente 5 anos. Conclusão: Dos pacientes estudados, 1 em cada 5 apresentou IGF-I diminuído, o que pode representar um indício de Deficiência de Hormônio de Crescimento (DGH). Neste grupo de pacientes, é necessário um teste de estímulo com baixo risco de convulsão, como o GHRH-arginina, que não é disponível no nossomeio, para confirmar o diagnóstico de DGH e justificar a reposição de somatotropina humana.

Background: The axis hypothalamo-pituitary can be affected in traumatic brain injuries (TBI), with hypopituitarism as a consequence. The most common hormonal deficiency in these cases is growth hormone deficiency(GHD). This study intends to evaluate the GHD in patients who suffered severe TBI that occurred between 2000 and 2004, in Florianópolis and surrounding area (SC). Methods: After a clinical evaluation of the patients(n=30) with previous history of severe TBI (Glasgow Scale or 8), it was carried out an evaluation of the somatotrophic axis by dosing GH and IGF-I. Results: Of the 30 patients, 73,3% (n=22) were men and 26,7% (n=08) were women. The most prevalent causes of TBI were car and motorcycle accidents (63,3%) and falls (23,3%). According to the laboratorial evaluation, 11 (36,7%) patients presented low GH and all of them were men. The mean age of the patients with low GH was 31,6 years and the majority had between 14 and 30 years. Six (20%) patients had low IGF-I and 4 were men and 2 were women. The mean age was 46,5 years and 66,7% (n=04) had between 31 and 45 years. The time between TBI and clinical and laboratorial evaluation for GH and IGF-Iwas approximately 5 years. Conclusions: In this study, one in every 5 patients presented a low value of IGF- 1, which may represent Growth Hormone Deficiency (GHD). Therefore, it is necessary to perform a test with low risk of developing convulsion to confirm the diagnosis of GHD (like GHRH-Arginine) in these subjects, that is not available in our health system. The recognization and proper treatment of GHD may positively influence directly the improvement of TBI and offer a better quality of life for these patients.