We have measured concentrations of etomidate and thiopentone in maternal plasma, umbilical venous plasma and colostrum after induction of anaesthesia in 40 patients undergoing Caesarean section. Mean plasma etomidate concentration declined rapidly (1242.0 ng ml-1 at 5 min, 434.0 ng ml-1 at 15 min, 64.2 ng ml-1 at 30 min, 7.0 ng ml-1 at 60 min and undetectable 2 h after the injection). Mean plasma concentrations of thiopentone declined more slowly (6.09 micrograms ml-1 at 5 min, 2.64 micrograms ml-1 at 2 h, 1.35 micrograms ml-1 at 4 h, 0.86 microgram ml-1 at 9 h and 0.59 micrograms ml-1 at 12 h). Mean umbilical venous thiopentone concentration was 4.72 micrograms ml-1, whereas the thiopentone concentration in the maternal sample at 5 min was 6.09 micrograms ml-1, giving an umbilical:maternal vein ratio of 1:1.3. Mean umbilical etomidate concentration was 51.7 ng ml-1 and the corresponding maternal vein sample (5 min) was 1242.0 ng ml-1 (P < 0.001), giving an umbilical:maternal vein ratio of 1:24. Mean concentrations of thiopentone in colostrum were 1.98 micrograms ml-1 at 30 min, 0.91 microgram ml-1 at 4 h and 0.59 microgram ml-1 at 9 h, colostrum:plasma ratios at 4 h and 9 h being 0.67 and 0.68, respectively. Mean concentrations of etomidate in colostrum were 79.3 ng ml-1 at 30 min and 16.3 ng ml-1 at 2 h, being undetectable at 4 h. The colostrum:plasma etomidate concentration ratio was 1.2 at 30 min.(ABSTRACT TRUNCATED AT 250 WORDS)

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FBLN5-related cutis laxa (CL) is a rare syndrome that can be inherited in an autosomal dominant or recessive manner. Autosomal recessive cutis laxa (ARCL), type IA, has been reported to be more severe. The disease is characterized by microcephaly, sagging cheeks, loose, wrinkled and redundant skin, emphysema, aorta or pulmonary artery abnormalities, inguinal hernia, and anomalies of internal organs. Homozygous mutations in the FBLN5 gene are responsible for the clinical manifestations. We report a family study of a child with ARCL. FBLN5 genes of the patient and parents were sequenced using next-generation sequencing technologies. Analyses showed that the patient was homozygous for the novel c.518A > G, p.R173H mutation in exon 6 of the FBLN5 gene, whereas the parents were heterozygous. The mutation was found to be 'possibly pathogenic' in bioinformatic analysis. We identified a novel FBLN5 mutation in a CL patient; pedigree and parental genetic analyses suggested ARCL. Our results also suggest that the mutation analysis provides useful evidence to support the clinical diagnosis and define the inheritance mode of CL in an apparently sporadic case. Clin

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In this case study, we describe a 3-year-old boy who was referred to the Inonu University Hospital with short stature complaint. His height was 86 cm (-2.96 SDS), weight was 12 kg (-2.43 SDS), and head circumference was 46.5 cm (-2.34 SDS). Chromosomal analyses were performed on cultured peripheral blood lymphocytes of the patient and his parents and showed the patient's karyotype mos 45,X[20]/46,X,idic(Y)(p11.32)[29]/46,XY[1]. The karyotypes of the parents were normal. Subsequently, specific FISH probes were hybridized to the related regions of the sex-determining region Y (SRY), centromere X/Y (CEP X/Y), and short stature homeobox (SHOX) genes. Simultaneous SNP array-CGH was conducted. As to our knowledge, we present the first patient with mosaic isodicentric Y chromosome with 3 different cell lines and normal male external genitalia. Our results suggest that it would be beneficial to study cytogenetic and molecular cytogenetic methods together for better diagnostic accuracy and treatment.