Thalassemia mutations in Gaziantep, Turkey

Ninety-eight postnatal and six prenatal cases of thalassemia were studied by the reverse dot-blot hybridization technique in the city of Gaziantep, Turkey. We found the following mutations: IVS 1.110 (G>A) in 29.1%, IVS 2.1 (G>A) in 12.3%, IVS 1.1 (G>A) in 7.7%, Codon 8 (-AA) in 5.6%, -30 (T>A) in 4.6%, IVS 1.6 (T>C) in 4.6%, Codon 39 (C>T) in 3.6%, Codon 44 (-C) in 3.1%, IVS 2.745 (C>G) in 1.5%, Codon 8/9 (+G) in 2.1%, Codon 36/37 (-T) in 2.1%, IVS 1.5 (G>C) in 2.1%, Codon 22 (7pb del) in 0.5%, Codon 5 (-CT) in 0.5% while 20.9% were undetermined. 54 of the thalassemia patients were homozygotes, 12 were compound heterozygous and 31 were heterozygotes. In one allele of 5 thalassemia patients, - thalassemia mutation (3.7 single gene deletions in 1 patient, anti-3.7 gene triplication in 4 patients) wasdetermined at the same time. Finally, this is the first comprehensive study in this region and percentage of and - globin genes mutation is 2.6 and 79.4%, respectively

Özel eğitime muhtaç gençlere yönelik spor eğitimi

Genel eğitimin ayrılmaz bir parçası olarak kabul edilen "özel eğitim" hizmetlerimin devlet tarafından ele alınması günümüzde Anayasal bir zorunluluktur. Anayasa'nın (1982) 42. maddesine göre, "kimse, eğitim ve öğretim hakkından yoksun bırakılamaz" hükmüne paralel olarak, Milli Eğitim Temel Kanunu'nun 8. maddesinde de "özel eğitim ve korunmaya muhtaç çocukları yetiştirmek için özel tedbirler alınır" (Resmi Gazete, 1973) biçimindeki ifadesiyle konunun önemi yasal bir temele dayandırılmıştır

Özel eğitime muhtaç gençlere yönelik spor eğitimi

Genel eğitimin ayrılmaz bir parçası olarak kabul edilen “özel eğitim” hizmetlerinin devlet tarafından ele alınması günümüzde Anayasal bir zorunluluktur. Anayasa’nın (1982) 42. maddesine göre, “kimse, eğitim ve öğretim hakkından yoksun bırakılamaz” hükmüne paralel olarak, Millî Eğitim Temel Kanunu’nun 8. maddesinde de “özel eğitim ve korunmaya muhtaç çocukları yetiştirmek için özel tedbirler alınır” (Resmi Gazete, 1973) biçimindeki ifadesiyle konunun önemi yasal bir temele dayandırılmıştır.Uluslararası ölçütlere göre özel eğitime ihtiyaç gösteren çocuk ve gençlerin zorunlu öğrenim çağındaki nüfusa oranı %14 olarak kabul edilmektedir. Ülkemizde 1990 nüfus sayımına göre 4-18 yaş arası yaklaşık 3.5 milyondan fazla özel eğitime muhtaç çocuk ve gencin olduğu tahmin edilmektedir. Bu sayının ise ancak %0.74’ü (21910 çocuk ve genç) özel eğitim hizmetlerinden yararlanabilmektedir

RiceWrist Robotic Device for Upper Limb Training: Feasibility Study and Case Report of Two Tetraplegic Persons with Spinal Cord Injury

Regaining upper extremity function is the primary concern of persons with tetraplegia caused by spinal cord injury (SCI). Robotic rehabilitation has been inadequately tested and underutilized in rehabilitation of the upper extremity in the SCI population. Given the acceptance of robotic training in stroke rehabilitation and SCI gait training, coupled with recent evidence that the spinal cord, like the brain, demonstrates plasticity that can be enhanced by repetitive movement training such as that available with robotic devices, it is probable that robotic upper extremity training of persons with SCI could be clinically beneficial. The primary goal of this pilot study was to test the feasibility of using a novel robotic device –the RiceWrist Exoskeleton- for rehabilitation of the upper limbs (UL) of two tetraplegic persons with incomplete SCI. Two pilot experiments were conducted. Experiment 1was the first novel attempt to administer treatment with the RiceWrist. The left UL of a tetraplegic subject was treated during seven therapy sessions. The subject’s feedback and the investigator’s obser-vations were used to enhance the robotic device and the corresponding graphical-interface. In Experiment 2, a second tetra-plegic subject underwent 10 three-hour training sessions administered by a physical therapist. Smoothness factor (FS) –a new measure developed in Experiment 1- was used as the primary outcome to test the subject’s performance before and after the training. The RiceWrist was modified according to the feedback obtained in Experiment 1. Thereafter, the device was suc-cessfully administered for upper limb training of the tetraplegic individual. Noticeable improvements in FS were observed for the stronger arm of the subject who completed 10 sessions of training. Improvements were also observed in the subject’s hand according to the Jebsen-Taylor Hand Function Test. Results from this study suggest a potential application of the RiceWrist for rehabilitation of SCI individuals and offer valuable information regarding development of UL robotic devices for this population

Pharmacological Properties of Edible Asparagus acutifolius and Asparagus officinalis Collected from North Iraq and Turkey (Hatay)

In this study, antioxidant, oxidant, antimicrobial, and antiproliferative activities of Asparagus acutifolius L. and Asparagus officinalis L., known for their nutritional properties, were determined. In this context, methanol (MeOH) and dichloromethane (DCM) extracts of plants were obtained. Total antioxidant status (TAS), total oxidant status (TOS), and oxidative stress index (OSI) were determined using Rel Assay kits. Antimicrobial activities of plant extracts were determined against the test microorganisms using the agar dilution method. Antiproliferative activity was tested on the lung cancer cell line A549. As a result of the studies, it has been determined that the plant species have high antioxidant potential. In addition, it was observed that the antifungal potentials of plant extracts are high. Antiproliferative activity was determined to be at high level in both plant species. As a result, it has been determined that A. acutifolius and A. officinalis have medical potential and can be used as natural agents in pharmacological designs

A geometric analysis of hallux valgus: correlation with clinical assessment of severity

<p>Abstract</p> <p>Background</p> <p>Application of plane geometry to the study of bunion deformity may represent an interesting and novel approach in the research field of hallux valgus. For the purpose of contributing to development of a different perspective in the assessment of hallux valgus, this study was conducted with three objectives: a) to determine the position on the intersection point of the perpendicular bisectors of the longitudinal axes of the first metatarsal and proximal phalanx (IP), b) to correlate the location of this point with hallux valgus deformity according to angular measurements and according to visual assessment of the severity carried out by three independent observers, and c) to assess whether this IP correlated with the radius of the first metatarsophalangeal arc circumference.</p> <p>Methods</p> <p>Measurements evaluated were intermetatarsal angle (IMA), hallux valgus angle (HVA), and proximal phalangeal articular angle (PPAA). The Autocad^®program computed the location of the IP inside or outside of the foot. Three independent observers rated the severity of hallux valgus in photographs using a 100-mm visual analogue scale (VAS).</p> <p>Results</p> <p>Measurements of all angles except PPAA showed significantly lower values when the IP was located out of the foot more distantly and vice versa, significantly higher values for severe deformities in which the IP was found inside the foot (<it>p </it>< 0.001). The IP correlated significantly with VAS scores and with the length of the radius of the circle that included the first metatarsophalangeal arc circumference (<it>p </it>< 0.001)</p> <p>Conclusion</p> <p>The IP is a useful indicator of hallux valgus deformity because correlated significantly with IMA and HVA measurements, VAS scores obtained by visual inspection of the degree of deformity, and location of the center of the first metatarsophalangeal arc circumference.</p

The prevalence of nutritional anemia in pregnancy in an east Anatolian province, Turkey

<p>Abstract</p> <p>Background</p> <p>Anemia is considered a severe public health problem by World Health Organization when anemia prevalence is equal to or greater than 40% in the population. The purpose of this study was to determine the anemia prevalence with the associated factors in pregnant women and to determine the serum iron, folate and B12 vitamin status in anaemic pregnants in Malatya province.</p> <p>Methods</p> <p>This is a cross-sectional survey. A multi-sage stratified probability-proportional-to-size cluster sampling methodology was used. A total of 823 pregnant women from sixty clusters were studied. Women were administered a questionnaire related with the subject and blood samples were drawn. Total blood count was performed within four hours and serum iron, folate and B12 vitamin were studied after storing sera at -20 C for six months.</p> <p>Results</p> <p>Anemia prevalence was 27.1% (Hb < 11.0 gr/dl). Having four or more living children (OR = 2.2), being at the third trimester (OR = 2.3) and having a low family income (OR = 1.6) were determined as the independent predictors of anemia in pregnancy. Anemia was also associated with soil eating (PICA) in the univariate analysis (p < 0.05). Of anaemic women, 50.0% had a transferrin saturation less than 10% indicating iron deficiency, 34.5% were deficient in B12 vitamin and 71.7% were deficient in folate. Most of the anemias were normocytic-normochromic (56.5%) indicating mixed anemia.</p> <p>Conclusions</p> <p>In Malatya, for pregnant women anemia was a moderate public health problem. Coexisting of iron, folate and B vitamin deficiencies was observed among anaemics. To continue anemia control strategies with reasonable care and diligence was recommended.</p

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.

A hallmark of neurodegeneration is defective protein quality control. The E3 ligase Listerin (LTN1/Ltn1) acts in a specialized protein quality control pathway-Ribosome-associated Quality Control (RQC)-by mediating proteolytic targeting of incomplete polypeptides produced by ribosome stalling, and Ltn1 mutation leads to neurodegeneration in mice. Whether neurodegeneration results from defective RQC and whether defective RQC contributes to human disease have remained unknown. Here we show that three independently-generated mouse models with mutations in a different component of the RQC complex, NEMF/Rqc2, develop progressive motor neuron degeneration. Equivalent mutations in yeast Rqc2 selectively interfere with its ability to modify aberrant translation products with C-terminal tails which assist with RQC-mediated protein degradation, suggesting a pathomechanism. Finally, we identify NEMF mutations expected to interfere with function in patients from seven families presenting juvenile neuromuscular disease. These uncover NEMF's role in translational homeostasis in the nervous system and implicate RQC dysfunction in causing neurodegeneration

An open-access database and analysis tool for perovskite solar cells based on the FAIR data principles

Large datasets are now ubiquitous as technology enables higher-throughput experiments, but rarely can a research field truly benefit from the research data generated due to inconsistent formatting, undocumented storage or improper dissemination. Here we extract all the meaningful device data from peer-reviewed papers on metal-halide perovskite solar cells published so far and make them available in a database. We collect data from over 42,400 photovoltaic devices with up to 100 parameters per device. We then develop open-source and accessible procedures to analyse the data, providing examples of insights that can be gleaned from the analysis of a large dataset. The database, graphics and analysis tools are made available to the community and will continue to evolve as an open-source initiative. This approach of extensively capturing the progress of an entire field, including sorting, interactive exploration and graphical representation of the data, will be applicable to many fields in materials science, engineering and biosciences

An open-access database and analysis tool for perovskite solar cells based on the FAIR data principles

Large datasets are now ubiquitous as technology enables higher-throughput experiments, but rarely can a research field truly benefit from the research data generated due to inconsistent formatting, undocumented storage or improper dissemination. Here we extract all the meaningful device data from peer-reviewed papers on metal-halide perovskite solar cells published so far and make them available in a database. We collect data from over 42, 400 photovoltaic devices with up to 100 parameters per device. We then develop open-source and accessible procedures to analyse the data, providing examples of insights that can be gleaned from the analysis of a large dataset. The database, graphics and analysis tools are made available to the community and will continue to evolve as an open-source initiative. This approach of extensively capturing the progress of an entire field, including sorting, interactive exploration and graphical representation of the data, will be applicable to many fields in materials science, engineering and biosciences. © 2021, The Author(s)