Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families.

PURPOSE: Persistent Müllerian duct syndrome (PMDS) is characterized by the persistence of Müllerian structures in male with normal phenotype. Most cases occur as a result of mutations in the anti-Müllerian hormone (AMH) or AMHR2 genes. In this study, we aim to discuss the results of clinical, laboratory, and molecular genetic analysis of cases detected to have AMHR2 gene mutation. METHODS: A total of 11 cases from 6 families were included in the study. AMHR2 gene mutation analyses were performed by sequencing of the coding exons and the exon-intron boundaries of the genes. The American College of Medical Genetics guidelines were used for the classification of the detected variants. RESULTS: Six of the 11 cases were admitted due to bilateral undescended testes and five cases due to inguinal hernia (three transverse testicular ectopia and two hernia uterus inguinalis). All cases had normal AMH levels. Seven different variants were identified in the six families. The variants detected in four cases were considered novel (c.78del, c.71G > A, c.1460dup, c.1319A > G). Two of the novel variants were missense (exon 2 and exon 10) mutations, one was deletion (exon 2), and one duplication (exon 11). CONCLUSION: We identified four novel mutations in the AMHR2 gene resulting in PMDS. Duplication mutation (c.1460dup) in the AMHR2 gene causing PMDS was demonstrated for the first time. The most important complications of PMDS are infertility and malignancy. Early diagnosis is vital to preventing malignancy. Vas deferens and vascular structures may be injured during orchiopexy. Therefore, patients should always be referred to experienced clinics.

Evaluation of levobupivacaine passage to breast milk following epidural anesthesia for cesarean delivery.

BACKGROUND: Following maternal administration, local anesthetics pass into breast milk. In the present study, we aimed to compare the passage of levobupivacaine and bupivacaine into breast milk following epidural anesthesia for cesarean delivery. METHODS: A total of 20 women undergoing elective cesarean delivery under epidural anesthesia were randomized to receive either 0.5% levobupivacaine or 0.5% racemic bupivacaine via an epidural catheter. Immediately before and 30min, 1h, 2h, 6h, 12h and 24h after administration of epidural local anesthetic, maternal blood and breast milk samples were taken simultaneously. Drug concentrations in plasma and milk were determined via high-performance liquid chromatography. The infant's drug exposure was determined by calculating milk/plasma ratios of levobupivacaine and bupivacaine. RESULTS: Both levobupivacaine and bupivacaine were detected in breast milk 30min after epidural administration. Concentrations of both agents showed constant and similar decreases in milk and plasma and were nearly undetectable at 24h. The milk/plasma ratios were 0.34±0.13 for levobupivacaine and 0.37±0.14 for bupivacaine. CONCLUSIONS: Both levobupivacaine and bupivacaine pass into breast milk following epidural administration. The concentration of both drugs was approximately three times lower in breast milk than in maternal plasma.

The effect of adrenaline on desflurane-induced prolonged QTc interval: a randomized double-blind trial.

BACKGROUND AND AIM: We investigated the effect of adrenaline on desflurane-induced prolonged corrected QT (QTc) interval. PATIENTS AND METHODS: Sixty-two adult patients scheduled for nasal surgery were included. Following intubation, packs soaked in physiological saline were used for Group C (control) and packs soaked in adrenaline (1/200,000, 5 ml) were used for Groups A1 and A2. Group A2 was given desflurane simultaneously with nasal packing; other groups were given desflurane following removal of the packs. QTc interval was evaluated at 9 periods, from prior to induction of anaesthesia to postoperative first hour. RESULTS: QTc interval was significantly reduced in Groups A1 and A2 compared to Group C during packaging (p < 0.001, p < 0.05 respectively), while QTc interval gradually prolonged after desflurane administration (p < 0.05 in Groups C compared to Groups A1 and A2). Patients did not develop arrhythmia. CONCLUSIONS: Our findings show that desflurane caused progressive prolongation of the QTc interval, and adrenaline shortened QTc interval only at application period of packs.

Comparison of the effects of preoperative and intraoperative intravenous application of dexketoprofen on postoperative analgesia in septorhinoplasty patients: randomised double blind clinical trial.

BACKGROUND: Postoperative analgesia is important because it prevents the adverse effects of pain. To study the effect of preoperative or intraoperative application of dexketoprofen on postoperative analgesia and patient comfort in patients undergoing septorhinoplasty. PATIENTS AND METHODS: A randomized, double-blind, placebo-controlled study. The study included 100 patients randomly assigned to four groups. Patients from group 50/0 got 50 mg dexketoprofen 30 minutes prior to the operation; patients from group 0/50 got 50 mg dexketoprofen 30 minutes after the operation, and patients from group 25/25 got 25 mg dexketoprofen both 30 minutes prior and 30 minutes after the operation. Dexketoprofen was not applied to any of the patients from group C. Once in the recovery room, patient-controlled analgesia was received to all patients. The patients' visual analog scale (VAS), sedation, nausea and vomiting and dyspepsia complaints were recorded at 1, 2, 3, 4, 5, 6, 7, 8, 12 and 24 hours. In addition, patient satisfaction, intraoperative fentanyl and consumption of tramadol in the postoperative 24 hour period were recorded. RESULTS: The VAS, nausea and vomiting, sedation and patient satisfaction scores were lower in patients from all groups that had received dexketoprofen compared to the controls. There was no difference in intraoperative fentanyl consumption between the groups. The consumption of tramadol was significantly higher in group C compared to all other groups. CONCLUSIONS: Dexketoprofen provides good postoperative analgesia and patient satisfaction if applied intravenously to septorhinoplasty patients. However, there is no significant difference between preoperative and intraoperative applications of dexketoprofen.

The effect of propofol as an antioxidant agent in intravenous regional anesthesia.

Intravenous regional anesthesia (IVRA) is a technique whereby a tourniquet is used to restrict blood flow to an exsanguinated limb. Propofol was shown to attenuate ischemia-reperfusion damage. We aimed to investigate the effect of low-dose propofol as an antioxidant in this process. Twenty-six unpremedicated adult patients (ASA I-II) were studied. The patients in the control group (Group C, n = 12) were administered 40 ml of 0.5% lidocaine, while the patients in the propofol group (Group P, n = 14) were administered 40 ml of 0.5% lidocaine plus 20 mg propofol for IVRA. Serum levels of malondialdehyde (MDA) and paraoxonase activity were measured at 1 min before, immediately upon, and 30 min after the release of the tourniquet. Serum paraoxonase activity was observed to have a significant decreasing course in both groups (p < 0.01). In contrast, we observed a progressive increase in the serum levels of MDA in Group C (p < 0.05). However, in Group P, serum levels of MDA after the release of the tourniquet periods were significantly lower than that before the release of the tourniquet (p < 0.05). The addition of propofol (20 mg) to lidocaine for IVRA inhibits MDA levels. We conclude that the addition of propofol to lidocaine can be considered as a useful antioxidant in this type of anesthesia.