RESUMO
Palindrome-mediated genomic instability has been associated with chromosomal translocations, including the recurrent t(11;22)(q23;q11). We report a syndrome characterized by extremity anomalies, mild dysmorphia, and intellectual impairment caused by 3:1 meiotic segregation of a previously unrecognized recurrent palindrome-mediated rearrangement, the t(8;22)(q24.13;q11.21). There are at least ten prior reports of this translocation, and nearly identical PATRR8 and PATRR22 breakpoints were validated in several of these published cases. PCR analysis of sperm DNA from healthy males indicates that the t(8;22) arises de novo during gametogenesis in some, but not all, individuals. Furthermore, demonstration that de novo PATRR8-to-PATRR11 translocations occur in sperm suggests that palindrome-mediated translocation is a universal mechanism producing chromosomal rearrangements.
Assuntos
Cromossomos Humanos Par 22/genética , Cromossomos Humanos Par 8/genética , Sequências Repetidas Invertidas/genética , Meiose/genética , Não Disjunção Genética , Translocação Genética/genética , Sequência Rica em At/genética , Adolescente , Adulto , Sequência de Bases , Criança , Pré-Escolar , Quebra Cromossômica , Feminino , Dosagem de Genes/genética , Genótipo , Saúde , Humanos , Masculino , Dados de Sequência Molecular , Fenótipo , Análise de Sequência de DNA , Espermatogênese/genética , Espermatozoides/metabolismoRESUMO
An updated liquid chromatographic (LC) method for the determination of glyphosate in technical material and formulations was tested by 7 laboratories. Samples were dissolved in water and injected into an LC system with a C18 guard column, an anion exchange analytical column, and a phosphate buffer mobile phase with 12 to 15% methanol. Detection was by UV absorption at 195 nm or refractive index. Automated injections were made. Calculations were based on peak area comparisons with external standards. The interlaboratory study analyzed 6 matched pairs of 3 glyphosate technical materials and 3 glyphosate formulations. The matched pair results were analyzed by using the AOAC spreadsheet and Youden's matched pair calculations. Coefficients of variation for the 6 samples ranged from 0.46 to 0.85%.
Assuntos
Cromatografia Líquida/métodos , Glicina/análogos & derivados , Herbicidas/análise , Química Farmacêutica , Glicina/análise , GlifosatoRESUMO
We present a case of severe needle phobia in a 5-year-old boy who learned to utilize a self-hypnosis technique to facilitate intravenous (i.v.) cannula placement. He was diagnosed with Bruton's disease at 5 months of age and required monthly intravenous infusions. The boy had received inhalational general anesthesia for i.v. cannulation on 58 occasions. Initially, this was because of difficult venous access but more recently because of severe distress and agitation when approached with a cannula. Oral premedication with midazolam or ketamine proved unsatisfactory and hypnotherapy was therefore considered. Following a 10-min conversational hypnotic induction, he was able to use switch--wire imagery to dissociate sensation and movement in all four limbs in turn. Two days later the boy experienced painless venepuncture without the use of topical local anesthetic cream. There was no movement in the 'switched-off' arm during i.v. cannula placement. This report adds to the increasing body of evidence that hypnosis represents a useful, additional tool that anesthetists may find valuable in everyday practice.