The evaluation of thiol-disulfide homeostasis in children with Triple-A syndrome.

OBJECTIVE: Triple-A syndrome occurs due to the dysfunction of the ALADIN protein as a result of a mutation in the AAAS gene. ALADIN is involved in redox homeostasis in human adrenal cells and steroidogenesis. It has also been shown to have important roles in DNA repair and the protection of cells against oxidative stress. We planned to investigate serum thiol/disulfide homeostasis, which is a part of redox hemostasis in patients with Triple-A syndrome. PATIENTS AND METHODS: The study included patients with the Triple-A syndrome (26 patients) and healthy children (26 patients). Thiol and disulfide levels of patients and healthy groups were compared. In addition, patients with the Triple-A syndrome were divided into 2 subgroups according to the mutation type, and their thiol and disulfide levels were compared. RESULTS: Triple-A syndrome patients had increased native thiol (SH), total thiol (SH+SS) concentrations, and native thiol/total thiol (SH/SH+SS) ratios than healthy controls. However, Triple-A syndrome patients had lowered disulfide (SS), disulfide/native thiol (SS/SH), and disulfide/total thiol (SS/SH+SS) ratios than the controls. When the group with the p.R478* mutation and the group with other mutation were compared, disulfide level, disulfide/native thiol ratio, and disulfide/total thiol ratio were statistically higher in the group with the p.R478* mutation, while native thiol/total thiol ratio was found to be lower. However, no statistical difference was found between native thiol and total thiol levels. CONCLUSIONS: This is the first study in the literature to evaluate thiol-disulfide homeostasis in patients with the Triple-A syndrome. Patients with Triple-A syndrome had an increased level of thiol compared with healthy controls. Comprehensive studies are needed to clarify these thiol levels, which are thought to be compensatory. Also, mutation type affects thiol-disulfide levels.

A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia.

BACKGROUND: Allgrove syndrome (OMIM 231550) is a rare autosomal recessive disease characterized by non-CAH primary adrenal insufficiency (non-CAH PAI), alacrima, and achalasia. It is caused by mutations in the AAAS gene. The syndrome is also associated with variable progressive neurological impairment and dermatological abnormalities. METHODS AND RESULTS: We diagnosed 23 patients from 14 families with Allgrove syndrome, based on the presence of at least two characteristic symptoms, usually adrenal insufficiency and alacrima, between 2008 and 2018. A previously described nonsense variant of AAAS was detected in 19 patients from 12 families at homozygous state. Another novel homozygous mutation (c.394-397delCTGT) in AAAS was detected in four patients from two families. Presenting symptoms were alacrima (23/23; 100%), adrenal insufficiency (18/23; 78%), achalasia (13/23; 57%), short stature/growth retardation (16/23; 70%), hyperreflexia (15/23; 65%), palmoplantar hyperkeratosis (13/23; 57%), hyperpigmentation of the skin (10/23; 43%), hypoglycemia-induced convulsion (7/23; 30%), swallowing difficulty and vomiting (6/23; 26%). Serum DHEAS concentrations were low in all patients (23/23; 100%). CONCLUSIONS: Clinical symptoms vary even among patients carrying the same mutation. Triple A syndrome should be considered in the etiology of non-CAH PAI in Arab populations and in Southeast Turkey. Any child with non-CAH PAI should be evaluated for the presence of alacrima and/or achalasia or family history of alacrima and/or achalasia. Children with alacrima and/or achalasia should also be investigated for adrenal insufficiency. Definitive molecular diagnosis is essential for early diagnosis and management of adrenal insufficiency, neurological symptoms, and growth retardation in patients and early diagnosis of as yet asymptomatic cases in the family, together with genetic counseling.

A NEW ISOLATED 20q INTERSTITIAL DUPLICATION CASE AND ITS CLINICAL COMPARISON WITH SIMILAR ISOLATED CASES.

Duplications of 20q are rare. Here we report a 15 years old boy with de novo duplication of 17.1 Mb at chromosome 20q. We made a comparison with the other isolated 20q duplication cases. There are phenotypic similarities between the patients who have the same affected chromosomal regions. We also showed a clinical follow up of the patient. There may be a relationship with Glaucoma and Graves disease between the chromosomal region and these diseases may occur at the other patients when they get older.

Comparison between dexmedetomidine and remifentanil infusion in emergence agitation during recovery after nasal surgery: A randomized double-blind trial.

BACKGROUND: Postoperative emergency agitation (EA) is a common problem. Dexmedetomidine and remifentanil may be used to prevent this problem. Our primary aim was to compare dexmedetomidine, remifentanil, and placebo with respect to their effectiveness in preventing postoperative EA. MATERIAL AND METHODS: Ninety patients undergoing nasal surgery were randomized into three groups. The dexmedetomidine group (group D, n = 30) received dexmedetomidine infusion at a rate of 0.4 µg kg(-1 ) h(-1); the remifentanil group (group R, n = 30) received remifentanil infusion at a rate of 0.05 µg kg(-1) min(-1) from induction of anesthesia until extubation; and the control group (group S, n = 30) received a volume-matched normal saline infusion as a placebo. Propofol (1.5-2 mg kg(-1)) and fentanyl (1 µg kg(-1)) were used to initiate anesthesia, and desflurane was used to maintain anesthesia. The incidence of agitation, hemodynamic parameters, and recovery characteristics were evaluated during emergence. RESULTS: The incidence of EA was significantly higher in group S (46.7%) compared with groups R and D (3.3 and 20%, respectively; p < 0.001). The lowest incidence of EA was detected in group R (p = 0.046). Residual sedation in the post-anesthesia care unit (PACU) was similar in all groups (p = 0.947). The incidence of nausea or vomiting was significantly lower in group D than in groups R and S (p = 0.043). Administration of analgesics in the PACU was higher in group R than in groups S and D (p = 0.015). CONCLUSION: Anesthetic maintenance with either remifentanil or dexmedetomidine infusion until extubation provided a more smooth and hemodynamically stable emergence, without complications after nasal surgery. While remifentanil was superior to dexmedetomidine with regard to avoiding EA, dexmedetomidine was more effective than remifentanil regarding vomiting and pain.

Effect of two surgical circumcision procedures on postoperative pain: A prospective, randomized, double-blind study.

BACKGROUND: Male circumcision (MC) is one of the most commonly used surgical procedures worldwide for medical and traditional reasons. No studies have compared the postoperative pain advantages of conventional techniques (i.e., sleeve and dorsal slit). OBJECTIVE: In this prospective randomized double-blind study, we investigated the effect of two surgical techniques (i.e., sleeve and dorsal slit) on postoperative pain and emergence agitation. STUDY DESIGN: This prospective study was conducted between January and July 2013. Approval was obtained from the local Ethical Committee on 17 December 2012, 06/23 (CLINICAL TRIALS IDENTIFIER: NCT 01909765). We compared two surgical techniques (i.e., the dorsal slit incision technique (Group A) and the double incision (i.e., sleeve) technique (Group B) in 60 children who were subjected to MC surgery under general anesthesia. All children received dorsal nerve blocks with bupivacaine. The modified objective pain scale (MOPS) was used for pain assessment, and the Ramsey Sedation Scale was used for the assessment of agitation during anesthesia emergence. RESULTS: The MOPS scores were lower in Group B than in Group A in the post-anesthesia care unit and during the 4th hour post-surgery (p = 0.01 and p = 0.037, respectively). Twelve children (40%) in Group A and 23 children (76.6%) in Group B required no additional analgesia on postoperative day one (p = 0.004). The Ramsey sedation scores were lower in Group A (p = 0.018). DISCUSSION: Dorsal slit is often the primary method in cases with paraphimosis; during this procedure, the frenulum frequently cannot be preserved at the 6-o'clock position of the mucosa, because of traction applied to skin and mucosa. As a result, the frenular artery is injured. In contrast, the sleeve technique protects the frenulum and the anatomic structures of the glans. In the sleeve technique, providing hemostasis and preventing partial ischemia by protecting the frenular artery reduces postoperative pain and complications. This present study demonstrated that the sleeve technique, which preserved the frenular artery, caused less bleeding, reduced electrocautery use and less ischemia than the dorsal slit technique. The sleeve technique effectively reduces early postoperative pain and agitation after circumcision, provided that adequate postoperative analgesia has been achieved. While all variables except the employed surgical techniques were similar, Group B had advantages with respect to analgesic requirement and pain control during the first 8 h after the operation. CONCLUSION: The sleeve technique provides lower pain scores and a reduced incidence of agitation after elective MC.