β-Globin chain abnormalities with coexisting α-thalassemia mutations

Introduction

The frequency of hemoglobinopathies is still high in Adana, the biggest city of the Cukurova Region that is located in the southern part of Turkey. Our aim was to identify the concomitant mutations in α- and β-globin genes which lead to complex hemoglobinopathies and to establish an appropriate plan of action for each subject, particularly when prenatal diagnosis is necessary.

Material and methods

We studied the association between the β-globin gene and α-thalassemia genotypes. The reverse hybridization technique was employed to perform molecular analysis, and the results were confirmed by amplification refractory mutation system (ARMS) or restriction fragment length polymorphism (RFLP) technique.

Results

We evaluated 36 adult subjects (28 female and 8 male; age range: 18-52 years) with concomitant mutations in their α- and β-globin genes. The –α^3.7/αα deletion was the commonest defect in the α-chain as expected, followed by α^3.7/–α^3.7 deletion. Twenty-five of 36 cases were sickle cell trait with coexisting α-thalassemia, while seven Hb S/S patients had concurrent mutations in their α-genes. The coexistence of α^PolyA-2α/αα with Hb A/D and with Hb S/D, which is very uncommon, was also detected. There was a subject with compound heterozygosity for β-globin chain (–α^3.7/αα with IVSI.110/S), and also a case who had –α^3.7/αα deletion with IVSI.110/A.

Conclusions

Although limited, our data suggest that it would be valuable to study coexisting α-globin mutations in subjects with sickle cell disease or β-thalassemia trait during the screening programs for premarital couples, especially in populations with a high frequency of hemoglobinopathies.     

Parathyroid adenoma screening efficacies of different imaging tools and factors affecting the success rates

PurposeWe aimed to compare the efficacy of three different parathyroid adenoma screening tools—high-resolution ultrasonography (USG), technetium Tc 99m-methoxyisobutylisonitrile (MIBI) parathyroid scintigraphy, and magnetic resonance imaging (MRI)—and we evaluated the factors affecting the detection success rates.MethodsParathyroid imaging was evaluated by USG, double-phase 99mTc-MIBI parathyroid scintigraphy, and cervical MRI in patients with hyperparathyroidism (n=39).ResultsAmong the 39 patients, USG, parathyroid scintigraphy, and MRI correctly identified 35 adenomas (89.7%), 28 adenomas (71.8%), and 26 adenomas (66.7%), respectively. Positive predictive values for USG (34/35), scintigraphy (27/28), and cervical MR (26/26) imaging were 97.1%, 96%, and 100%, respectively. Parathyroid adenomas were detected with 92.3% (36/39) certainty when both USG and scintigraphy modalities were applied together. Minimally invasive parathyroidectomy under local anesthesia with unilateral incision was successfully performed in 24 (61.5%) patients.ConclusionsMinimally invasive surgery for parathyroid adenomas has been developed and has equal success with traditional surgery. However, accurate localization of adenomas should be obtained prior to surgery. In this study, ultrasound was found to be effective in localizing adenomas for successful surgery. Adding other imaging modalities does not improve localizing the parathyroid adenomas.     

Protective effects of dexmedetomidine on ischaemia-reperfusion injury in an experimental rat model of priapism

The study aimed to investigate the effects of dexmedetomidine against ischaemia-reperfusion injury occurring after priapism in a model of induced-priapism in rats. A total of 18 male rats were randomised into three groups. Group 1 was the control group. A priapism model was performed rats in Group 2 and then ischaemia-reperfusion injury was evaluated. Group 3 had similar procedures to the rats in Group 2. Rats in Group 3 additionally had 100 μg/kg dexmedetomidine administered intraperitoneally immediately after reperfusion. Blood and tissue samples were analysed. Biochemical analysis of blood samples revealed a decrease in the levels of the pro-inflammatory cytokines including interleukin-1 beta (IL-1 Beta), interleukin-6 (IL-6), and tumour necrosis factor-alpha (TNF-alpha) in Group 3 compared to Group 2 (p:.04, p:.009 and p:.009, respectively). Similarly, the highest malondialdehyde (MDA) level was in Group 2 (p:.002). The levels of antioxidant enzymes superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) activities were significantly higher in Group 3 than that of Group 2 (p:.037 and p:.045, respectively). Direct microscopic examinations revealed positive changes in desquamation, oedema, inflammation and vasocongestion scores in Group 3 compared to Group 2 (p:.007, p:.008, p:.007 and p:.006, respectively). Dexmedetomidine has a protective effect against ischaemia-reperfusion injury in penile tissue.     

Effect of polylactide/glycolide (PLGA) membranes loaded with metronidazole on periodontal regeneration following guided tissue regeneration in dogs

BACKGROUND: Bioabsorbable membranes have been successfully used for guided tissue regeneration (GTR) and local delivery systems because they are biocompatible and do not require second surgery for removal. Several studies have demonstrated that metronidazole, when applied topically, produced immediate effects on microbiological and clinical parameters, most notably a reduction in probing depth and loss of attachment. The purpose of this study was to evaluate the regenerative potential of a metronidazole-loaded biodegradable (polylactide/glycolide) (PLGA) GTR membrane in dogs. METHODS: Six male adult dogs with 36 created osseous defects were enrolled. Bilateral dehiscence type defects in 5 mm diameter were created at buccal aspect of the alveolar bone in maxillary premolar teeth. After full thickness flap elevation, exposed root surfaces were thoroughly planed. In the experimental sites, PLGA membranes with or without metronidazole were fitted and placed over the defects. On the control defects only root planing was performed. Gingival flaps were replaced slightly coronal to the cemento-enamel junction. Animals were sacrificed at 60 days. The histometric analysis was evaluated with the following parameters: defect height (DH), apical extension of junctional epithelium (AEJE), new cementum height (NCH), new bone height (NBH), and new gingival connective tissue height (NCTH). RESULTS: Postoperative clinical healing was similar in the 3 groups. There were no statistically significant differences between the 2 experimental groups in any parameters. Statistically significant differences were observed for AEJE, NCH, NBH, and NCTH in experimental groups when compared with the controls. Statistically significantly greater NCH, NBH, and NCTH were seen in the experimental groups than the controls and control defects showed longer AEJE than the experimental defects. CONCLUSIONS: These results suggest that PLGA membranes with and without metronidazole may have a beneficial effect on periodontal regeneration.     

ERN varies with degree of psychopathy in an emotion discrimination task

It is hypothesized that anterior cingulate cortex (ACC) function may be disrupted in psychopathy. Since ACC is considered the generator of the error-related negativity (ERN), we expected the ERN to be sensitive to the degree of psychopathy among violent offenders. EEG was collected while offenders and controls responded to a standard letter flanker task and to a face flanker task that required discrimination between angry and fearful expressions. Offenders were as accurate as controls on the letter flanker task but made more errors in emotion discrimination on the face flanker task. ERNs elicited by letter flanker errors did not differ across groups but were markedly reduced in the offenders in the face flanker condition. These effects were related to the degree of psychopathy within the offender group. Source modelling of the ERN also indicated an atypical response for psychopaths when error monitoring required the discrimination of affectively based information.     

Unusual complication of aortic dissections: intimo–intimal intussusception

Angiography with a pre-diagnosis of acute coronary syndrome was performed in a 76-year-old female patient presenting to another hospital with symptoms of chest pain and syncope. Upon determination of type III aortic dissection, the patient was referred to our clinic. On CT angiography, the ascending aortic diameter was 57 mm and no dissection flap was observed. There was a filling defect suggestive of intimo–intimal intussusception at the level of the aortic arch, occlusion of the left arteria carotid communis, and a double-channel aorta extending from the left subclavian artery to the iliac artery. On transoesophageal echocardiography, the ascending aorta was seen to be larger than normal and no dissection flap was observed. There were findings suggestive of haematoma and intimo–intimal intussusception at the proximal part of the aortic arch. The dissection flap causing occlusion in the vascular structures was resected. Supracoronary graft replacement of the ascending aorta was performed. Transoesophageal echocardiography is an invasive investigative method with high sensitivity and specificity for the diagnosis of intimo–intimal intussusception.     

Intraocular lens implantation without the use of ophthalmic viscosurgical device

The purpose of this study was to determine whether single-piece hydrophilic acrylic intraocular lens can be safely implanted without the use of ophthalmic viscosurgical devices. This retrospective study comprised 100 eyes having phacoemulsification and intraocular lens implantation without the use of ophthalmic viscosurgical device. 80 eyes with the use of a viscosurgical device are used as control group. In this intraocular lens implantation technique, the anterior chamber was maintained with an irrigation cannula and intraocular lens was implanted with a lens injector. Visual acuity, corneal clarity and edema, intraocular pressure, and corneal endothelial cell count were evaluated preoperatively and postoperatively at days 1, 7, and 30. Corneal endothelial cell count was repeated 2 weeks after surgery. Complications of this technique were also evaluated. No significant complications of this intraocular lens implantation technique, such as posterior capsule rupture, intraocular lens buttonholing, zonular dialysis, Descemet’s tear/detachment, occurred. On the seventh postoperative day, 90 % of eyes achieved 20/20 or better vision. There was no difference in corneal endothelial cell loss between viscoelastic device-used and not-used cases (p = 0.356). When implanting intraocular lens without the use of ophthalmic viscosurgical device, significant intraoperative complications did not occur. The possible advantages are shortened surgery time, avoidance of postoperative IOP spike from ocular viscosurgical device (OVD) remnant, and reduced cost.