Nonsense β-thalassemia mutation at codon 37 (TGG>TGA), detected for the first time in three Turkish cases

Thalassemias are genetically heterogeneous group of disorders with reduced or absent production of globin. β-Thalassemia major can be caused by homozygosity or compound heterozygosity for β-globin gene mutation. Here we report, for the first time in Turkey, three cases who carry the nonsense β-thalassemia (β-thal) mutation at codon 37 (TGG>TGA; Trp→Stop) causing premature stop codon.     

Prevalence and molecular analysis of β-thalassemia in Adiyaman, Turkey

Thalassemia is one of the most common hereditary disorders in the Mediterranean region. We report here the results of a premarital screening carried out in Ad?yaman in the southeastern region of Turkey, a region with a hitherto unknown incidence of β-thalassemia (β-thal). In order to detect β-thal carrier frequency and genotypes of carriers from the city of Ad?yaman, Turkey, both high performance liquid chromatography (HPLC) and the red blood cell counts of 1616 people who applied for premarital tests were analyzed. Blood cell counts were measured by a cell counter and the hemoglobin (Hb) fractionation was carried out by HPLC. The frequency of β-thal carriers in the city of Ad?yaman was 1.91% and the frequency of abnormal Hbs was 0.07%. We report 28 chromosomes of β-thal traits with 10 different mutations, including the first report of codon 17 (AAG>TAG) in Turkey and one individual who was heterozygous for Hb D-Los Angeles [β121(GH4)Glu→Gln, GAA>CAA]. This study was the first to be performed on the frequency and molecular pathology of β-thal mutations in Ad?yaman in the southeastern region of Turkey. We report that the prevalence of the thalassemia trait is similar in all regions of our country, but the prevalence of mutation heterogeneity varies from region to region.     

Prognosis of postpartum psychiatric disorders in a Turkish sample

Objective

The postpartum period represents a time of increased risk for psychiatric disorders. Postpartum depression is especially very common. Many aetiological risk factors have been reported for postpartum psychiatric disorders. The purpose of this study was to evaluate the postpartum psychiatric disorders in a Turkish sample and discuss their course.

Methods

The files of 6000 inpatients who were admitted to Gazi University School of Medicine Psychiatry Department were evaluated retrospectively, and 67 patients were chosen whose psychiatric illness had began puerperally. These patients were grouped according to age of onset of the illness, number of episodes and the type of these episodes, their postpartum psychiatric diagnoses and illness prognosis.

Results

Of 6000 patients, 67 (1.11%) were diagnosed as having a postpartum psychiatric disorder: 56.7% (n=38) were diagnosed as having a postpartum psychotic disorder, while 35.8% (n=24) as having an affective disorder. Forty-seven patients (70.1%) received a diagnosis of major psychiatric disorder during their follow-up.

Conclusion

These results show that postpartum diagnoses may show a chronic course and cause a life-time psychiatric illness and therefore patients should be monitored carefully for psychotic symptoms even after the acute period is over.     

Deep brain stimulation of the forniceal area enhances memory functions in experimental dementia: The role of stimulation parameters

Deep brain stimulation (DBS) is currently being evaluated as a potential therapy in improving memory functions in Alzheimer’s disease. The target for DBS and the stimulation parameters to be used are unknown. Here, we implanted bilateral electrodes in the vicinity of the fornix, a key element of the memory circuitry, and applied DBS with different stimulation frequencies and amplitudes in an experimental model of dementia. Rats received scopolamine, a muscarinic acetylcholine receptor antagonist, to mimic memory impairment. Rats were then tested in the object location task with the following conditions: (i) with attachment of stimulation cable (off stimulation), and (ii) with DBS at various amplitudes (50 μA, 100 μA and 200 μA), 100 μs pulse width and 100 Hz or 10 Hz stimulation frequency. DBS reversed the memory impairing effects of scopolamine when compared to sham rats. We found that the fornix is not sensitive to the frequency of stimulation, but rather to current levels. With the most optimal stimulation parameter, we found no side-effects on anxiety levels and general motor activity. These findings identify the fornix as a key region in controlling spatial memory functions. DBS of this region, using tailored stimulation parameters, has the potential to improve memory functions in conditions characterised by memory impairment.     

A Case Report of Priapism Caused by Ziprasidon

Priapism is defined as having prolonged (more than 6 h), and usually painful penile erection that occurs without a sexual desire or arousal. Only a very few priapism cases caused by ziprasidone are reported in the literature. In this case report we aimed to present a prolonged penile erection due to use of ziprasidone.     

The influence of shift work on cognitive functions and oxidative stress

Shift work influences health, performance, activity, and social relationships, and it causes impairment in cognitive functions. In this study, we investigated the effects of shift work on participants' cognitive functions in terms of memory, attention, and learning, and we measured the effects on oxidative stress. Additionally, we investigated whether there were significant relationships between cognitive functions and whole blood oxidant/antioxidant status of participants. A total of 90 health care workers participated in the study, of whom 45 subjects were night-shift workers. Neuropsychological tests were administered to the participants to assess cognitive function, and blood samples were taken to detect total antioxidant capacity and total oxidant status at 08:00. Differences in anxiety, depression, and chronotype characteristics between shift work groups were not significant. Shift workers achieved significantly lower scores on verbal memory, attention–concentration, and the digit span forward sub-scales of the Wechsler Memory Scale-Revised (WMS-R), as well as on the immediate memory and total learning sub-scales of the Auditory Verbal Learning Test (AVLT). Oxidative stress parameters were significantly associated with some types of cognitive function, including attention–concentration, recognition, and long-term memory. These findings suggest that night shift work may result in significantly poorer cognitive performance, particularly working memory.