Makale Arama

Objective: The aim of our study is evaluate the association between serum vitB12 levels at time of diagnosis and clinical and laboratory signs in multiple myeloma patients.

Material and Methods: Patients were divided into two groups; those had low and normal levels of vitB12. Groups were analized by using independent simple T, Mann Whitney U and chi-square tests considering by distrubition characteristics of data.

Results: Two hundred-and-twelve patients' records were examined retrospectively. Forty-one (32%) patients had low vitB12 levels. In patients with low vit B12 levels, bone marrow plasma cell ratios were also significantly lower than those found normal vit B12 levels (median %30 vs %50, respectively) (p: 0,024). There was no statistically significant difference between the two groups in terms of age, lytic bone lesion numbers, and serum levels of total protein, lactate dehydrogenase, ß2-microglobulin, calcium, creatinin, albumin. However, 11 patients (%26,8) in low vitB12 group had anemia, while 44 (%50,5) patients in normal vitB12 group had. So, anemia was more often in vitamin B12 normal group patients (p: 0,019). No difference was found in terms of myeloma ISS and R-ISS stages in two patient groups.

Conclusions: Bone marrow median plasma cell ratio was also low in the group with low vit B12 levels. Our data could not show its clinical reflection. Further studies with larger groups are required to evaluate the response to treatment, survival and recurrence rate.

Androjen duyarsızlık sendromu (AIS), Xq11-q12'de yer alan androjen reseptör (AR) genindeki
mutasyonların neden olduğu genotip/fenotip uyumsuzluğu ile seyreden X'e bağlı çekinik bir hastalıktır.
Bu çalışmada AR geninde literatürde daha önce bildirilmemiş nadir bir mutasyon saptadık. AIS’nun temel
klinik bulguları; 46,XY bireylerde, doğumda dişi dış genitalya, puberte döneminde anormal sekonder seks
karakter gelişimi ve erişkinlik döneminde görülen infertilitedir. 17 yaşında, dişi dış genitalyaya sahip hasta
primer amenore nedeniyle kromozom analizi yapılmak üzere kliniğimize yönlendirildi. Hastanın genotipi
46,XY olarak saptandı. Hastanın AR geni sekans analizinde ekzon 1’de; daha önce ExAc, 1000genome
ve diğer popülasyon veri tabanlarında bulunmayan NM000044 c.5A>G varyantı tespit edildi. Bu varyant 2.
pozisyonda glutamik asidin glisine dönüşümüne neden olmaktadır. Negatif yüklü, polar bir aminoasit olan
glutamik asidin; hidrofobik özelliğe sahip glisine dönüşümü nedeniyle, bu mutasyonun AR geninin fiziksel
yapısını ve proteinin 3 boyutlu yapısını bozabileceğini düşündü k.

With the understanding that adipose tissue is not only a passive energy store, but also an endocrine organ, interest in bioactive factors secreted from adipose tissue has increased. Adipose tissue, consisting of pre-adipocytes, macrophages, endothelial cells, fibroblasts and leukocytes, as well as adipocytes, has an important role in systemic metabolic regulation. Chemerin, called tazarotene-induced gene 2 (TIG2) or retinoic acid receptor responder 2 (RARRES2), was first discovered in 1997 in psoriatic skin lesions as a retinoic acid-sensitive gene. It was later determined that chemerin regulates adipogenesis and adipocyte metabolism, with data showing that it alters adipocyte differentiation, expression of important genes in glucose and lipid metabolism, and is classified as a new adipokine. The effects of chemerin in circulating and inflammatory fluids are mediated through receptor G protein-bound receptor chemokine-like receptor 1 (CMKLR1). The increase in the number of clinical trials associated with increased levels of local and / or circulating chemerin in various diseases, from obesity, metabolic syndrome (MetS), type 2 diabetes mellitus (T2DM), polycystic ovarian syndrome (PCOS) to inflammatory diseases, supports the important roles of chemerin in the pathogenesis of these diseases. Although it is clear that serum chemerin levels increase in these diseases, the mechanisms regulating the expression of the chemerin are not fully understood. More randomized controlled studies are needed to understand the mechanisms of action of chemerin.

Wilm’s tumor, the most common childhood renal cancer, is a heterogeneous renal tumor in which diffuse anaplastic or negative histology represents poor prognosis. In Wilm’s tumor pathogenesis, a large number of factors remain uncertain. For this reason, the disease continues to be the focus of further research. MicroRNAs are small, protein-encoding RNA molecules that regulate gene expression at post-transcriptional stage. The role of microRNAs in cancer onset and progression has been demonstrated in most solid cancers. MicroRNAs also have a diagnostic potential, and microRNA-targeted treatment is a candidate for an important role in cancer treatment. In Wilm’s tumor, dysregulation of certain key oncogenic or tumor suppressor microRNAs, such as miR-17 ~ 92 cluster, miR-185, miR-204, and miR-483 has been documented. In this study, we will summarize the current evidence about the role of dysregulated microRNAs in the development of the Wilm’s tumor. The possible effects of MicroRNAs on the clinical diagnosis and prognosis of the Wilm’s tumor will also be discussed. Thus, an overview of the future place of microRNAs in the implementation of new treatment options will be presented.

Objective: Familial hypercholesterolemia (FH) is an autosomal dominant inherited genetic disorder that causes a significant increase in low-density lipoprotein (LDL) cholesterol levels and leads to early coronary heart disease and cardiac mortality. Although this disease has a heterozygous (HeFH) and homozygous (HoFH) form, the incidence of HeFH is reported to be 1: 500, while HoFH is reported to be 1: 1 000 000. This disease is often caused by LDL receptor (most common), apolipoprotein B (Apo B), Proprotein Convertase Subtilisin/Kexin 9 (PCSK9), and LDL receptor adaptor protein (LDLRAP) gene mutations. Patients with FH do not respond well to lipid-lowering therapies such as a statin, and so lipoprotein apheresis is the treatment of choice.

Material and Methods: We compared the results of lipoprotein apheresis in a 20-year-old female patient diagnosed with HoFH with two different methods [double-filtration plasmapheresis (DFPP) and dextran sulfate column (DSC) methods]. 40 lipoprotein apheresis procedures including 20 sessions of DFPP and 20 sessions of DSC were evaluated.

Results: When the two methods were compared the changes in high-density lipoprotein, white blood cells, platelets, potassium, calcium, prothrombin time (INR) and activated partial thromboplastin time values were statistically significant.

Conclusions: In conclusion, our study suggests that it would be more appropriate to choose the apheresis method according to the clinical and laboratory findings of the patient since it shows that two different methods have different effects on serum electrolyte values, hemostasis criteria and leukocyte and platelet counts.

Aim: It was aimed to compare with healthy volunteers the changes in heat shock protein (HSP) 90 alpha and vitamin levels during exacerbation and remission periods in our patients with familial Mediterranean fever (FMF), to research whether these molecules will benefit in control of FMF exacerbation and prevention of amyloid accumulation, and also to investigate the relationship of these molecules with FMF gene mutations.

Patients and Methods: HSP 90 alpha, vitamin A, vitamin B 12, vitamin D, vitamin E and folic acid levels were studied in 30 patients with AAA diagnosed in our hospital's pediatric nephrology department during the exacerbation and remission periods and 30 healthy volunteers. The results were compared statistically.

Results: In our series, 19 (63.3%) of the patients were male, 11 (36.7%) were female, with a mean age of 11 years. The most common presenting complaint was abdominal pain (n=19; 63.3%) after fever and only high fever was found to be present in five (16.7%) patients. The most common genetic mutation was M694V (n=14; 46.7%), whereas no mutation was detected in five (16.7%) patients. Although HSP 90 alpha was the highest in the exacerbation group and the lowest in the remission group, there was no significant difference between the groups. Vitamin B12 was significantly different between the groups and the highest value was in the control group. Vitamin D was significantly different between the exacerbation and the remission groups and the highest value was in the exacerbation group. In addition, vitamin D levels were significantly higher in boys. There was no significant difference between vitamin A, vitamin E and folic acid levels. FMF gene mutations did not affect HSP 90 alpha and vitamin levels.

Conclusion: Our findings showed that serum HSP 90 alpha, vitamin D, vitamin E and folic acid levels were normal in AAA, but vitamin B12 and vitamin A levels were low during exacerbation and remission. However, we think that prospective studies including larger series should be performed about the subject.

Aim: In the present study, the aim is to determine whether centromere protein H (CENPH) gene expression levels change in prostate carcinoma (PCa).
Materials and Methods: Prostate tissue sample of 40 patients with primary prostate cancer was used in the study. Hence, transcriptional analysis of the CENPH gene was conducted in the total paraffin embedded prostate tissues extracted from patients diagnosed with prostate cancer. The expression analyses were obtained from the comparison of the expressions within the tumoral and non-tumoral areas in the prostate tissue of the same patient.
Results: Separate RNA isolation was performed. Subsequent qRT-PCR analyzes were repeated three times and quality controls of the Ct values were performed on the obtained data. The Ct values of the expression of the housekeeping gene GAPDH and the target gene CENPH gene were compared in tissue (tumor and normal) and technical repeat groups. There was no statistically significant difference in CENPH gene expression between tumor and normal tissue specimens in prostate cancer. Moreover, on investigating the causes of death, in none of the patients PCa related death was determined. 
Conclusion: In our study, we could not find any relationship with prostate cancer tumorogenesis in CENPH gene expression anomalies. However, some cancers (non-small cell lung cancer, colon cancer, etc) with high CENPH gene expression are associated with tumor aggressiveness, poor prognosis and drugresistance. More studies are needed on CENPH gene expression and its effect on prostate cancer.

Aim: In this study, it was aimed to investigate the kidney function, hypertension development and
proteinuria in individuals with only one kidney .
Patients and Methods: The study included 96 patients who had previously undergone nephrectomy with
the causes of nephrolithiasis and chronic pyelonephritis-induced nonfunctional kidney, RCC (Renal Cell
carcinoma), trauma, and donor nephrectomy among 17800 patients who applied to the Siirt State Hospital
Nephrology and Urology outpatient clinics between January 2016 and December 2019. The data of the
patients were obtained from patient files database retrospectiv ely.
Results: A total of 96 patients, 45 female and 51 male, were included in the study. 23 (24%) of the
patients had donor nephrectomy (DN), and 73 (76%) had nephrectomy (DE) due to nephrolithiasis, chronic
pyelonephritis, trauma, and renal cell cancer (RCC). The patients were divided into two groups as those
who underwent DN and DE due to other etiologies. Between DN and DE group, there was no statistically
significant difference in terms of mean age, distribution of gender, presence of HT before nephrectomy,
DM, presence of hematuria and new onset proteinuria (P> 0.05). Compared to the DN group, the frequency
of new onset in CKD and HT development was significantly higher DE group.
Conclusion: Nephrectomy is a risk factor for the development of CKD, proteinuria and hypertension.
Therefore, preventive measures should be taken in a timely manner to reduce the prevalence of
nephrectomies due to benign diseases.

Introduction: Circulating stem cells (CSCs) are released from bone marrow in to the circulation after myocardial injury to improve tissue repair. Radiofrequency ablation (RFA) of cardiac arrhythmias, particularly for atrial fibrillation, has been shown to trigger the release of CSCs through inflammatory mediators. We aimed to investigate whether CSCs are increased in the circulation following non-extensive ablation procedures such as slow pathway or accessory pathway ablations.

Methods: Twenty-six patients [13 females, 54 (18-74) years old] who underwent slow pathway ablation for atrioventricular nodal reentrant tachycardia (n=18) and accessory pathway ablation for atrioventricular reentrant tachycardia (n=8) were included. Peripheral blood CD34+ cell count and multiple serologic markers [troponin I (Tn-I), C-reactive protein (CRP), interleukin-6 (IL-6), stromal cell derived factor (SDF) 1 alpha] were evaluated before the ablation procedure and 7 and 30 days after the procedure.

Results: The CD34+ cell count was significantly increased on the 7^th day after the procedure when compared to baseline [33 (15-133) vs. 22,5 (5-79) cells per microliter respectively, P<0.001]. The CD34+ cell count was similar to baseline on the 30^th day following the procedure. Levels of Tn-I, CRP, IL-6 and SDF1-α did not change significantly following ablation. The amount of energy applied during RFA (watts) was significantly correlated with the 30^th day CD34+ cell count (r: 0.460; p= 0.018).

Conclusions: Peripheral blood CSCs are increased after slow pathway or accessory pathway ablations which are less extensive ablations compared to atrial fibrillation ablation. The levels return to baseline by the 30^th day following the procedure. The increase in CSCs was positively correlated with the amount of energy delivered during the procedure.

Towards the end of 2019, new coronavirus causing acute respiratory distress syndrome in patients was detected in Wuhan Province, China . This virus was called serious acute respiratory syndrome coronavirus 2 (SARS-CoV-2) by the International Virus Taxonomy Committee. The disease caused by this new coronavirus was called coronavirus disease-2019 (COVID-19) by the World Health Organization. This virus was found to be in the subclass of Betakoronavirus caused by bats. The role of viral proteins such as envelopes, membranes, nucleocapsids and spike proteins responsible for viral infectivity in immunopathogenesis is being investigated in studies. It has been emphasized in studies in which multiple organ failure develops due to the development of cytokine storm, especially in the advanced stages of the disease. An effective host immune response, including natural and adaptive immunity to SARS-Cov-2, is essential for controlling and treating viral infection. Although there is no effective treatment for the disease today, the benefits of various immunosuppressive and immunomodulatory drugs have been shown in studies. In this article, the immunopathogenesis of SARS-CoV-2 and the treatment models that can be effective on immunopathogenesis are reviewed in the light of current literature.

Neurofibromatosis type I (NF1) is a complex disorder caused by mutations of the neurofibromin protein-encoding gene on the chromosome 17. NF1 is an autosomal dominant disorder. The prevalence of NF1 is approximately 1:2500 to 1:3500. Both genders are equally affected. Herein, we report a 27-year-old female patient who had multiple hyperpigmented skin macules, multiple café-au-lait spots, axillary freckling, optic glioma, hundreds of soft cutaneous neurofibromas and lisch’s nodules on the iris of both eyes. According to the clinical features, we suspect from NF1 and-then sequence analysis of NF1 gene was performed. A heterozygous c.980 T> G (p.L327R) mutation was detected in the NF1 gene. This mutation has not been reported previously.

Optogenetics is a biological technique that uses light to turn on or turn off certain groups of neurons in the
brain. The advantage of optogenetics is that it has cell specificity. In this way, certain groups of neurons
can be targeted and all their functions can be examined. In optogenetics, light is transformed into electrical
potentials that form the function of a neuron and loaded onto specific neurons with proteins called opsin.
When light is shined on the designated area of the brain, only opsin-loaded neurons are activated, and in this
way the desired potential is created. The first studies of optogenetics were sending light to the brain through
optical fibers, so that the subjects were physically connected to a control station. Later, researchers used
wireless electronics to allow subjects to move freely with a battery-free technique. However, these devices
have proved difficult to use because they are large in volume and often attached to the outside of the skull
visibly, do not allow precise control of the frequency or intensity of light, and can only stimulate one area of
the brain at a time. Which area of the brain the light will select, the control of the intensity of the light, and
the prevention of accidental activation of the neurons that are activated by the heat produced by the light
sources are important for studies. The development of optogenetic methods will make it easier to provide
diagnosis and treatment methods of many diseases with photons. Studies in brain regions related to nutrition
by optogenetic method are also very important in terms of treatment of nutritional disorders (hyperphagia,
anorexia, etc.).

Cancer is a serious genetic disease caused by a series of disorders in the genome. Development of hightroughput sequencing approaches as well as the publication of large-scale projects have enabled the identification of several non-coding RNA molecules that are differentially expressed in various types of cancer. It has been reported that ncRNA transcripts such as long non-coding RNAs (lncRNAs) and microRNAs (miRNAs) have critical roles in the development and progression of cancer and can be used in the diagnosis/treatment of cancer. In particular, miRNAs are small RNA molecules which control gene expression at the post-transcriptional level and play critical roles in the important hallmark capabilities of cancers such as metastasis, invasion, cell proliferation, differentiation, and angiogenesis. Similarly, lncRNAs have also been identified as RNA transcripts that have important roles in the understanding of the molecular mechanism of cancer. Accordingly, in this comprehensive review, functional ncRNA molecules without protein coding capacity such as miRNAs, lncRNAs, and T-UCRs and the hallmarks of cancer were discussed together with a current perspective.