RESUMO
We describe clinical, biochemical, and molecular findings in a 2(1/2)-year-old girl with a phosphomannose isomerase deficiency who presented with severe and persistent hypoglycemia and subsequently developed protein-losing enteropathy, liver disease, and coagulopathy. Six months of therapy with mannose supplementation resulted in clinical improvement and partial correction of biochemical abnormalities.
Assuntos
Defeitos Congênitos da Glicosilação/diagnóstico , Hipoglicemia/etiologia , Pré-Escolar , Defeitos Congênitos da Glicosilação/dietoterapia , Defeitos Congênitos da Glicosilação/genética , Defeitos Congênitos da Glicosilação/metabolismo , Suplementos Nutricionais , Feminino , Humanos , Hipoglicemia/metabolismo , Manose/uso terapêutico , Mutação Puntual , Análise de Sequência de DNARESUMO
The effect of thyroid hormone treatment on thyromegaly was evaluated in 69 patients < or = 18 years of age with goitrous Hashimoto disease. Changes in goiter size were related to pretreatment thyroid function (serum thyroxine and thyrotropin concentrations). We found that only hypothyroid patients had a clear diminution of their thyromegaly when given thyroid hormone.
Assuntos
Bócio/tratamento farmacológico , Hormônios Tireóideos/uso terapêutico , Tireoidite Autoimune/tratamento farmacológico , Adolescente , Criança , Pré-Escolar , Feminino , Bócio/sangue , Bócio/etiologia , Humanos , Hipotireoidismo/tratamento farmacológico , Hipotireoidismo/etiologia , Masculino , Estudos Retrospectivos , Tireoidite Autoimune/sangue , Tireoidite Autoimune/complicações , Tireotropina/sangue , Tiroxina/sangueRESUMO
Both the immediate and long-term effects of chest physical therapy administered by a parent were evaluated in eight children with cystic fibrosis. Spirometric and plethysmographic evaluations were performed pre-CPT and at 5 and 30 minutes post-CPT. The pre-CPT measurements after a three-week period with no CPT were compared with the values while receiving CPT on a regular twice daily basis. There was a significant decrease after three weeks without CPT for FVC (P less than 0.025), FEV1 (P less than 0.005), FEF25-75 (P less than 0.005), and Vmax60TLC (P less than 0.025). When the patients had been receiving CPT on a regular basis, the only immediate effect was an increase in PEFR after 30 minutes post-CPT (P less than 0.05). After three weeks without CPT, there were increases at 30 minutes post-CPI for FVC (P less than 0.005) and Vmax60TLC (P less than 0.05). These findings indicate that although there may be little immediate functional improvement when CPT is received on a regular basis, a three-week period without CPT leads to a worsening of the functional status, which is reversed with renewal of regular CPT.