Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation.

Trisomy 14 is incompatible with live, but there are several patients reported with mosaic trisomy 14. We aimed to study the pattern of X inactivation and its effect on a translocated autosome and to find out an explanation of the involvement of chromosome 14 in 2 different structural chromosomal abnormalities. We report on a girl with frontal bossing, hypertelorism, low-set ears, micrognathia, cleft palate, congenital heart disease, and abnormal skin pigmentations. The patient displayed iris, choroidal, and retinal coloboma and agenesis of the corpus callosum and cerebellar vermis hypoplasia. Cytogenetic analysis revealed a karyotype 45,X,der(X)t(X;14)(q24;q11)[85]/46,XX,rob(14;14)(q10;q10),+14[35]. Array-CGH for blood and buccal mucosa showed high mosaic trisomy 14 and an Xq deletion. MLPA detected trisomy 14 in blood and buccal mucosa and also showed normal methylation of the imprinting center. FISH analysis confirmed the cell line with trisomy 14 (30%) and demonstrated the mosaic deletion of the Xq subtelomere in both tissues. There was 100% skewed X inactivation for the t(X;14). SNP analysis of the patient showed no region of loss of heterozygosity on chromosome 14. Also, genotype call analysis of the patient and her parents showed heterozygous alleles of chromosome 14 with no evidence of uniparental disomy. Our patient had a severe form of mosaic trisomy 14. We suggest that this cytogenetic unique finding that involved 2 cell lines with structural abnormalities of chromosome 14 occurred in an early postzygotic division. These 2 events may have happened separately or maybe there is a kind of trisomy or monosomy rescue due to dynamic cytogenetic interaction between different cell lines to compensate for gene dosage.

Effects of dexmedetomidine in morbidly obese patients undergoing laparoscopic gastric bypass.

BACKGROUND: Obese patients may be sensitive to the respiratory depressant effect of opioid analgesics. Alternative methods for analgesia may be beneficial for management of bariatric surgery. We evaluated the effect of dexmedetomidine on anesthetic requirements during surgery, hemodynamic, recovery profile and morphine use in the postoperative period. METHODS: Eighty adult patients scheduled for elective laparoscopic Roux-en-Y gastric bypass surgery were randomly assigned to one of two study groups; Group D (40 patients) received dexmedetomidine (0.8-microg/kg bolus, 0,4 microg kg(-1) h) and Group P (40 patients) received normal saline (placebo) in the same volume and rate. Intraoperative and postoperative mean blood pressure and heart rate were recorded. The total amount of intraoperative fentanyl and propofol required to maintain anesthesia were measured. Recovery profile, pain score and total amount of morphine used via patient controlled analgesia (PCA) were assessed. RESULTS: During surgery, dexmedetomidine decreased the total amount of intraoperative fentanyl and propofol required for maintenance of anesthesia compared to placebo. Patients who received dexmedetomidine showed significant decrease of intraoperative and postoperative mean blood pressure, heart rate. In the postoperative period, dexmedetomidine decreased pain scores and PCA morphine use significantly and showed better recovery profile as compared to the placebo Group. There was no difference in the incidence of postoperative nausea and vomiting (PONV) between both groups. CONCLUSION: The intraoperative infusion of dexmedetomidine decreased the total amount of propofol and fentanyl required to maintain anesthesia, offered better control of intraoperative and postoperative hemodynamics, decreased postoperative pain level, decreased the total amount of morphine used and showed better recovery profile compared with placebo.

Combination effect of low dose fentanyl and propofol on emergence agitation in children following sevoflurane anesthesia.

OBJECTIVE: To investigate the combination effect of low dose fentanyl and subhypnotic dose of propofol on emergence agitation in children receiving sevoflurane for adenotonsillectomy procedure. METHODS: After ethical approval, a prospective, randomized, clinical study was performed in Saad Specialist Hospital, Al-Khobar, Kingdom of Saudi Arabia in 2007-2008. One hundred and twenty children in physical status of I according to the American Society of Anesthesiologists, aged 2-6 years, scheduled for adentonsillectomy under general anesthesia were allocated into 3 groups randomly. Anesthesia was induced and maintained by sevoflurane in all groups. Children received 0.1 ml.kg-1 normal saline at the end of surgery in group C (n=40), 1.5 mcg.kg-1 fentanyl during induction, and 0.1 ml.kg-1 normal saline at the end of surgery in group F (n=40), and 1.5 mcg.kg-1 fentanyl during induction and 1 mg.kg-1 propofol at the end of surgery in group FP (n=40). Postoperative agitation was recorded, if any, for the first postoperative hour. RESULTS: Three groups were comparable with regard to demographic data. Twenty-one patients (53%) in the control group, 14 patients (35%) in group F and 7 (18%) patients in group FP experienced postoperative agitation. CONCLUSION: The combination of low dose fentanyl before surgery and propofol at the end of surgery decreases the incidence and level of emergence agitation in children after adenotonsillectomy procedure under sevoflurane anesthesia.