89 research outputs found
Resolution of cystoid macular edema following arginine-restricted diet and vitamin B6 supplementation in a case of gyrate atrophy.
We report the outcome of 3Â years of arginine-restricted diet and vitamin B6 supplementation in a boy who presented with gyrate atrophy of the choroid and retina and bilateral cystoid macular edema. The diagnosis of gyrate atrophy was made on the basis of clinical findings and increased plasma ornithine levels. Molecular genetic testing revealed a disease-causing homozygous mutation in the ornithine aminotransferase (OAT) gene. After 3Â months of dietary modification and pyridoxine supplementation, visual acuity improved, and optical coherence tomography showed resolution of cystoid macular edema in both eyes. This anatomical and functional improvement was maintained during 3Â years of follow-up
Enantioselective Dynamic Process Reduction of ι- and β-Tetralone and Stereoinversion of Resulting Alcohols in a Selected Strain Culture
Îą-Tetralone and β-tetralone were subjected to biotransformation by 14 fungal strains. Enantiomeric purity of the products depended on the reaction time. 3-Day transformation of Îą-tetralone in Absidia cylindrospora culture gave S-(+)-1,2,3,4-tetrahydro-1-naftol of 92 % ee, whereas longer biotransformation time resulted in decrease of ee value. 3-Day transformation of β-tetralone by the same strain gave predominantly S-(â)-1,2,3,4-tetrahydro-2-naftol, whereas after 9 days of the reaction, the R-enantiomer with 85 % ee was isolated. Transformation of β-tetralone by Chaetomium sp. KCh 6651 gave pure (S)-(â)-1,2,3,4-tetrahydro-2-naftol in high yield at the concentration of 1 g/l. In this process, a non-selective carbonyl reduction was observed, followed by a selective oxidation of the R-alcohol
Peptidi derivati dall\u2019endostatina con potenziale attivit\ue0 antitumorale:uno studio mediante dinamica molecolare
Synthesis of naturally occurring 2,5-dialkylchromones : part 1. Synthesis of aloesone and aloesol
Ectopia lentis et pupillae with patchy depigmentation of the skin, hair and lashes: a new association
We describe a case of a four year-old boy, with congenital ectopia lentis et pupillae, who developed patchy unilateral depigmentation of the skin, hair and lashes. The association between ectopia lentis et pupillae and transillumination of the iris is well documented in the literature, but it has never been reported with skin hypopigmentation
The binding of bilirubin to albumin : a study using spin-labelled bilirubin
Binding between human serum albumin and a spin-labelled derivative of bilirubin was investigated by circular dichroism, fluorescence quenching, electron spin resonance and visible spectroscopy. The orders of magnitude of the binding constants obtained by flurorescence quenching and electron spin resonance spectroscopies were 107 and 103 I\ub7-mol-1, respectively. These data suggest that most spin-labelled bilirubin interacts with human serum albumin at the side not holding the spin-labelled side-arm. CD measurements showed the presence of at least two sites, associated with opposite Cotton effects. It is worthy of note that the Cotton sign of the first site is inverted with respect to the corresponding one of bilirubin. CD measurements on mixed systems (spin-labelled bilirubin/human serum albumin/bilirubin) were also performed. The decomposition of the ternary curves shows that the rotatory power of bilirubin bound to human serum albumin is higher in the ternary system than in the binary (bilirubin/human serum albumin). The corresponding CD measurements for the binding between spin-labelled bilirubin and bovine serum albumin are also reported and discussed
[Neuron-specific enolase in ophthalmology]
Tissue location and biochemical aspects of the enolase, enzyme belonging to the glycolytic pathway, are presented. Embryological applications of the dimer gamma-gamma (Neuronal Specific Enolase) as a biological marker of the neuroectodermal derivatives is discussed. The authors stress the clinical importance of the NSE in the early detection of tumors
Balanced translocation (t 2q; 10p) and ocular anomalies. A possible HOX gene defect
The authors report a child with a phenotype typical of a first branchial arch defect. The patient has a balanced translocation involving chromosome 2. They propose a defect that has occurred during the translocation in a gene mapped to chromosome 2 and belonging to the HOXD family. HOX gene defects can perturb the expression of other genes important for head development
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