Neonatal thyrotoxicosis and maternal infertility in thyroid hormone resistance due to a mutation in the TRbeta gene (M313T).

We report two unusual cases of resistance to thyroid hormone (RTH) in one family. The first case, a male infant, had clinical features of thyrotoxicosis in the neonatal period. In the fourth week of life weight gain was poor despite a daily intake of standard infant formula almost double the infant's estimated requirements. At this time serum free T4 (fT4) was 60.7 pmol/l (Normal range [NR] 11-25 pmol/l) and TSH was inappropriately normal at 1.8 mU/l (NR 0.3-4.0 mU/l). The infant responded clinically and biochemically to propylthiouracil (PTU) at a dose of 10 mg/kg/day. Following 27 days of treatment serum fT4 was 22.6 pmol/l and TSH had risen to 24.9 mU/l. As the infant was thriving treatment was discontinued. The infant, now aged 6 months old, remains clinically euthyroid and developmentally normal off treatment. The infant's mother, from whom he had inherited a mutation of the thyroid receptor beta (TRbeta) gene (M313T), presented earlier with secondary infertility and clinical features of thyrotoxicosis. Treatment with PTU restored her fertility and she spontaneously conceived. In the subsequent pregnancy, clinical and biochemical features of RTH improved, and she gave birth to a small but healthy female infant. In the next pregnancy, resulting in the birth of the affected male infant, clinical and biochemical features of RTH worsened, and high doses of PTU were required to maintain a clinically euthyroid state. To our knowledge, these are the first case reports of RTH associated with added features of a hypermetabolic state in infancy and secondary infertility

Enteropathogenic escherichia-coli O111AB-H2 penetrates the small-bowel epithelium in an infant with acute Diarrhea

ESCOLA PAULISTA MED,CTR ELECTRON MICROSCOPY & MICROBIOL,São Paulo,BRAZILUNIV BRASILIA,DEPT PAEDIAT,BR-70910 BRASILIA,DF,BRAZILUNIV ESTADUAL CAMPINAS,DEPT MICROBIOL & IMMUNOL,CAMPINAS,SP,BRAZILESCOLA PAULISTA MED,CTR ELECTRON MICROSCOPY & MICROBIOL,São Paulo,BRAZILWeb of Scienc

Importance of polyfunctional thiols on semi-industrial Gew\uc3\ubcrztraminer wines and the correlation to technological treatments

Thiol compounds responsible for tropical fruit associated aroma have been extensively studied over the last 20 years. The occurrence of their non-aromatic precursors in grapes and musts is reported largely mainly for the cultivar Sauvignon Blanc. The presence of these thiols as precursors or free molecules in grape, juice, and wine has been reported in several different varieties, suggesting that they are more or less ubiquitous both for Vitis spp. and interspecific hybrids. The biosynthetic pathways resulting in these compounds are yet to be completely elucidated, but, in the meantime, industry needs to improve technological knowledge to better manage winemaking steps to enhance the variety-dependent aroma of wine. In this work, we studied the implications of the use of grape skin tannins\u2014rich and poor in thiol precursors\u2014 on the final content of 3-sulfanylhexan-1-ol (3MH) and its acetate (3MHA) in wine and the effect in terms of sensory appreciability. The evaluation of 36 vinifications carried out in a semi-industrial scale permitted us to prove that only a tannin originally rich in precursors (High), when added to juice at the beginning of fermentation, enhanced both the concentration of precursors in the juice and the final concentration of aromatic thiols in the resultant wine. The 3MH and 3MHA developed as a consequence of the juice supplementation with tannin High and increased pleasantness and typicality of Gew\ufcrztraminer wines. A later supplementation with tannin High at the end of the alcoholic fermentation was sensorially not effective