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.     

Assemblathon 1: a competitive assessment of de novo short read assembly methods

Low-cost short read sequencing technology has revolutionized genomics, though it is only just becoming practical for the high-quality de novo assembly of a novel large genome. We describe the Assemblathon 1 competition, which aimed to comprehensively assess the state of the art in de novo assembly methods when applied to current sequencing technologies. In a collaborative effort, teams were asked to assemble a simulated Illumina HiSeq data set of an unknown, simulated diploid genome. A total of 41 assemblies from 17 different groups were received. Novel haplotype aware assessments of coverage, contiguity, structure, base calling, and copy number were made. We establish that within this benchmark: (1) It is possible to assemble the genome to a high level of coverage and accuracy, and that (2) large differences exist between the assemblies, suggesting room for further improvements in current methods. The simulated benchmark, including the correct answer, the assemblies, and the code that was used to evaluate the assemblies is now public and freely available from http://www.assemblathon.org/.     

Classical and Follicular Variant Papillary Thyroid Carcinoma: Comparison of Clinical,Ultrasonographical, Cytological,and Histopathological Features in 444 Patients

Follicular variant papillary thyroid carcinoma (FVPTC) is the most common variant of papillary thyroid carcinoma (PTC) after classical PTC (CPTC). In this study, we aimed to compare functional status, ultrasonographical features, cytological results, and histopathological characteristics of patients with CPTC and FVPTC. Preoperative thyroid functions, thyroid autoantibodies, ultrasonographical features, cytology, and histopathology results of 354 (79.9%) CPTC and 90 (20.3%) FVPTC patients were reviewed retrospectively. Sex distribution, mean age, thyroid autoantibody positivity, and thyroid dysfunctions were similar in two groups. Among 320 patients with preoperative ultrasonography (US) findings, a hypoechoic halo was observed more frequently (p = 0.003), and marginal irregularity was observed less commonly (p = 0.024) in FVPTC lesions. In CPTC, rate of malignant cytology (p = 0.001), and in FVPTC, rate of suspicious cytology (p < 0.001) were significantly higher. Histopathologically, mean tumor diameter was markedly higher in FVPTC compared to CPTC (16.89 ± 13.86 vs 10.64 ± 9.70 mm, p < 0.001), while capsular invasion and extrathyroidal spread were significantly lower in patients with FVPTC (p = 0.018 and p = 0.039, respectively). FVPTC tend to have more benign features in US and less malignant results in cytology. Higher tumor size in FVPTC might be explained by the recognition of clinical importance of these lesions after reaching particular sizes due to benign US features.     

Effects of lidocaine and adrenaline combination on postoperative edema and ecchymosis in rhinoplasty

Nasal osteotomies are the most important cause of periorbital edema and ecchymosis. Injection of lidocaine and adrenaline is recommended to reduce bleeding. Whilst the lidocaine and adrenaline combination (LAC) is claimed to reduce postoperative ecchymosis and edema, this effect remains to be proven conclusively. This study, on 48 patients, was designed to investigate the effects of LAC injection on postoperative edema/ecchymosis in rhinoplasty. LAC was applied at a random side prior to the lateral osteotomy. The opposite side was used as a control. The relationship between edema/ecchymosis and the degree of LAC on the injected and uninjected sides was evaluated on the first, third and seventh day postoperatively. The relationships between edema and ecchymosis with operation time and intraoperative systolic blood pressure were also evaluated. Bleeding was reduced on the side treated with LAC (p = 0.050). The degrees of edema/ecchymosis increased with increases in the duration of operation and the systolic blood pressure on the first postoperative day for the LAC-applied side (p < 0.05). This correlation was not observed on the opposite side (p > 0.05). Application of LAC reduces bleeding during rhinoplasty and pain control postoperatively but reduced edema and ecchymosis should not be expected following LAC application.     

Effects of oral zinc administration on long‐term ipsilateral and contralateral testes damage after experimental testis ischaemia–reperfusion

The purpose of this study was to examine potential long‐term post‐torsion changes that can occur in the histopathology, biochemistry and spermatogenesis of both torsioned and nontorsioned opposite testes. The study also determines the effect of zinc (Zn) administration on the testicular torsion/detorsion (T/D) damage on both testes. Forty‐eight male rats, divided equally into eight groups: (SHAM), (SHAM+,Zn+), (T/D+, Zn? 1 month), (T/D+,Zn? 2 months), (T/D+,Zn? 3 months), (T/D+,Zn+ 1 months), (T/D+,Zn+ 2 months), (T/D+,Zn+ 3 months), have been used. Drug administration was carried out by adding 100 μg (0.016 ml/rat) Zn per rat to drinking water in related groups. Testicular damage decreased superoxide dismutase (SOD) and glutathione (GSH) and increased malondialdehyde (MDA) in the testis tissues of rats, while Zn administration increased SOD and GSH and decreased MDA in the testis tissues in comparison with the SHAM group. The beneficial effect of zinc sulphate was more evident on the nonrotated testis than the rotated testis. In the histopathological study, a significant decrease in torsion and detorsion injuries was observed in the treatment groups compared to the torsion and detorsion groups. We found a protective effect of zinc sulphate on oxidative stress as a result of T/D injuries in rats, especially for the nonrotated testis; results were supported histopathologically.     

The effects of tramadol and fentanyl on gastrointestinal motility in septic rats

In this study, we investigated the effects of tramadol and fentanyl on gastrointestinal transit (GIT) during acute systemic inflammation in an experimental model of cecal ligation and perforation (CLP). One-hundred-twenty male Swiss-Albino rats were divided randomly into 6 groups: Group I = sham-operated + saline; Group II = sham-operated + fentanyl; Group III = sham-operated + tramadol; Group IV = CLP + saline; Group V = CLP + fentanyl; Group VI = CLP + tramadol. Suspension of charcoal was administered as an intragastric meal to measure the GIT. GIT% (mean +/- sd) were 46.1% +/- 9.8%, 43.2% +/- 9.8%, 45.9% +/- 10.2%, 33.2% +/- 9.2%, 24.9% +/- 4.1%, and 31.8% +/- 8.4% in Groups I, II, III, IV, V, and VI, respectively. GIT% was significantly less in Group V than in Groups I, II, III, and IV (P < 0.05). The Group VI mean value was significantly lower than those of Groups I, II, and III (P < 0.05) but not different from those of Groups IV and V (P > 0.05). The antitransit effect of fentanyl was shown to have increased in the experimental sepsis model, but no decrease in GIT was obtained with tramadol. This was thought to be the result of an associated endogenic opioid system activation and receptor upregulation in sepsis.     

A perplexing presentation of a breast carcinoma: a case report

Breast cancer is a devastating disease for women. In this paper, we present a breast carcinoma presenting in a bizarre location. It was initially presumed that the patient had skin cancer, but the lesion turned out to be breast cancer presenting as a superficial mass on the skin of the breast.     

Long‐term add‐on pregabalin treatment in patients with partial‐onset epilepsy: Pooled analysis of open‐label clinical trials

Purpose: To evaluate the safety, tolerability, and efficacy of long‐term pregabalin as add‐on therapy for patients with poorly controlled partial seizures. Methods: Analysis of data from six long‐term clinical trials involving 2,061 patients receiving open‐label pregabalin 75–600 mg/day adjunctive therapy for partial onset epilepsy refractory to multiple antiepileptic drugs. Results: Total pregabalin exposure was 3,877 person‐years. The mean duration of pregabalin treatment was 534 days (range 0.3–8 years) and 59% completed 1 year. One‐third of patients discontinued for lack of efficacy. The most common dose was ≥300 mg/day; over half took ≥450 mg/day. There was a mean reduction in the 28‐day seizure rate of 25–40%, and more than 40% of all patients had a ≥50% reduction in seizures from baseline during the last 3 months of treatment. Twelve percent of all patients had a 6‐month period continuously free of seizures. In the last year, 6% were seizure‐free for the entire year. Pregabalin was generally well‐tolerated and the safety profile favorable in patients treated for up to several years, with an adverse event (AE) profile similar to short‐term placebo‐controlled trials. Common AEs included CNS symptoms (dizziness, somnolence, headache, and asthenia), accidental injury, and weight gain. CNS AEs tended to be mild and transient. Rates of sudden unexpected death in epilepsy (SUDEP), mortality, cancer, and status epilepticus were within the expected range for this population. Conclusions: Adjunctive pregabalin was effective, generally well tolerated, and safe in the long‐term treatment of partial seizures, and provided clinically meaningful seizure reduction and freedom without evidence of tolerance over 2 years of follow‐up.     

Association between chronic urticaria and thyroid autoimmunity

The association between chronic idiopathic urticaria (CIU) and thyroid autoimmunity has most often been suggested in studies investigating thyroid microsomal antibodies, which are less sensitive and specific than anti-thyroperoxidase antibodies, moreover these studies were not case-control studies in large series. By comparing a large patient series presenting with CIU with a large numbered control group we aimed to learn the extent of autoimmune thyroid disease. We compared the frequency of thyroid autoantibodies in 140 patients with CIU with 181 age-and sex-matched volunteers. Thyroid function tests and thyroid autoantibodies were measured by chemiluminescent immunometric assay in study groups. The frequency of thyroid autoantibodies was significantly higher in patients with CIU than that in healthy controls (29.28 %/5.52%; p < 0.001). Of 41 patients, 10 had thyroid dysfunction and the other cases were euthyroid. The higher frequency of these antibodies in our patients shows that there was a strong association between CIU and thyroid autoimmunity.