ABSTRACT
An interstitial tandem duplication of 6p21.1-p22.2 was found in a girl at 11 months of age when she was evaluated for developmental delay. Previous cases reported with partial 6p duplication usually have involved terminal duplications, with breakpoints ranging from 6p11 to 6p25. Our patient exhibits a milder phenotype compared to the previously reported cases in the literature. Features that she has in common with the other cases include craniofacial anomalies, such as broad nasal bridge and bulbous tip, thin lips, incomplete development of the scapha helix bilaterally, mild spastic paraparesis of the lower extremities, gross motor delay, and mild cognitive delays.
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 6/genetics , Gene Duplication , Adult , Child , Female , Humans , Karyotyping , Male , Microsatellite Repeats , Phenotype , Pregnancy , TrisomyABSTRACT
The effects of topiramate in 15 patients with drug refractory epilepsy or Lennox-Gastaut syndrome were assessed in an open, add-on prospective study. After a follow-up of 14-21 months, six patients are still on topiramate (mean dosage 583 mg/day, range 400-800 mg/day), and nine have discontinued treatment because of adverse events (n = 6), inefficacy (n = 2) or poor compliance (n = 1). Nine patients (69%) continued to have > or = 50% reduction in seizure frequency during the last two months of treatment, and one has been seizure-free for the last 19 months. The most common adverse events were somnolence, weight loss, mental slowing, fatigue, ataxia and irritability. Most of these events were reversible, but withdrawal of treatment was required in six cases as a result of ataxia (two patients), somnolence, metabolic acidosis, irritability or psychotic symptoms (one patient each). It is concluded that topiramate is a valuable agent for long-term management of refractory epilepsy.
Subject(s)
Anticonvulsants/therapeutic use , Epilepsies, Partial/drug therapy , Fructose/analogs & derivatives , Adult , Anticonvulsants/adverse effects , Female , Fructose/adverse effects , Fructose/therapeutic use , Humans , Male , Middle Aged , Prospective Studies , TopiramateABSTRACT
We isolated by low stringency screening of a human erythroleukemia cDNA library (K562) 45 independent clones hybridizing to a Krüppel-like (HF.10) zinc finger cDNA. The expression of 15 such cDNAs in human hematopoietic cell lines was investigated. Preliminary sequence analysis of the zinc finger motifs in these cDNAs indicate that they belong to a subclass of the Cys-Cys/His-His motif, showing the highest homology to the Wilm's tumor and EGR1, EGR2 cDNAs.
Subject(s)
Hematopoietic Stem Cells/metabolism , Zinc Fingers/genetics , Amino Acid Sequence , Cloning, Molecular , Genomic Library , Hematopoiesis , Humans , Molecular Sequence Data , Multigene Family , Sequence Homology, Nucleic Acid , Tumor Cells, CulturedABSTRACT
We isolated by low strigency screening of a human erythroleukemia cDNA library (K562) 45 indipendent clones hybridizing to a Kruppel-like (HF.10) zinc finger cDNA. The expression of 15 such cDNAs in human hematopoietic cell lines was investigated. Preliminary sequence analysis of the zinc finger motifs in these cDNAs indicate that they belong to a subclass of the Cys-Cys/His-His motif, showing the highest homology to the Wilm's tumor and EGR1, EGR2 cDNAs.
