Bezmialem Vakıf Üniversitesi Kurumsal Akademik Arşiv
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Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
No full text© 2022 Elsevier B.V.Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement. Methods: We retrospectively collected clinical information and molecular diagnosis data of 22 patients with Joubert syndrome from multiple facilities. Clinical exome or whole-exome sequencing were performed to identify causal variations in genes. Results: The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, HYLS1, KATNIP, KIAA0586, KIF7, RPGRIP1L, including some previously unreported variants in these genes. Multi-systemic organ involvement was observed in nine (40%) patients, with the eye being the most common, including Leber\"s congenital amaurosis, ptosis, and optic nerve coloboma. Portal hypertension and esophageal varices as liver and polycystic kidney disease and nephronophthisis as kidney involvement was encountered in our patients. The HYLS1 gene, which commonly causes hydrolethalus syndrome 1, was also associated with Joubert syndrome in one of our patients. A mild phenotype with hypophyseal hormone deficiencies without the classical molar tooth sign was observed with compound heterozygous and likely pathogenic variants not reported before in the KATNIP gene. Conclusion: Some rare variants that display prominent genetic heterogeneity with variable severity are first reported in our patients. In our study of 22 Joubert syndrome patients, CPLANE1 is the most affected gene, and Joubert syndrome as a ciliopathy is possible without a classical molar tooth sign, like in the KATNIP gene-affected patients
Low-cost voltammetric sensor based on reduced graphene oxide anchored on platinum nanoparticles for robust determination of Favipiravir in real samples
No full text© 2022 Elsevier B.V.This research describes a simple, sensitive, and disposable modified glassy carbon electrode constructed using platinum nanoparticles anchored on reduced graphene oxide nanocomposite as a conductive modifier (Pt@rGO/GCE) to detect an anti-coronavirus drug, Favipiravir (FAV). The as-synthesized nanocomposite was characterized by Fourier transform infrared spectroscopy (FTIR), X-ray diffraction (XRD), field emission scanning electron microscopy (FE-SEM), energy-dispersive X-ray spectroscopy (EDX), and atomic force microscopy (AFM). Under optimized conditions, the square wave voltammetry (SWV) method was used to determine trace amounts of FAV in real samples. The proposed electrode demonstrated a wide linear concentration range of 3.16 to 100.0 μM with a low detection limit (LOD) of 2.46 μM. Moreover, the developed electrode showed outstanding selectivity in the presence of several interferences with high repeatability and reproducibility. Finally, the developed electrode was applied to detect FAV in human plasma and pharmaceutical samples
Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria
No full textInborn errors of human IFN-γ-dependent macrophagic immunity underlie mycobacterial diseases, whereas inborn errors of IFN-α/β-dependent intrinsic immunity underlie viral diseases. Both types of IFNs induce the transcription factor IRF1. We describe unrelated children with inherited complete IRF1 deficiency and early-onset, multiple, life-threatening diseases caused by weakly virulent mycobacteria and related intramacrophagic pathogens. These children have no history of severe viral disease, despite exposure to many viruses, including SARS-CoV-2, which is life-threatening in individuals with impaired IFN-α/β immunity. In leukocytes or fibroblasts stimulated in vitro, IRF1-dependent responses to IFN-γ are, both quantitatively and qualitatively, much stronger than those to IFN-α/β. Moreover, IRF1-deficient mononuclear phagocytes do not control mycobacteria and related pathogens normally when stimulated with IFN-γ. By contrast, IFN-α/β-dependent intrinsic immunity to nine viruses, including SARS-CoV-2, is almost normal in IRF1-deficient fibroblasts. Human IRF1 is essential for IFN-γ-dependent macrophagic immunity to mycobacteria, but largely redundant for IFN-α/β-dependent antiviral immunity
Molecular Cardiotoxic Effects of Proteasome Inhibitors Carfilzomib and Ixazomib and Their Combination with Dexamethasone Involve Mitochondrial Dysregulation.
No full textCo-occurrence of Central Tegmental Tract Hyperintensity and Tay-Sachs Disease: A Case Report.
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Hashimoto Tiroidi ve Mikro Besinler
No full textHashimoto tiroidi, tiroid hormonlarının üretiminin azalması sonucu hipotiroidizme neden olan otoimmün tiroid bozuklukları (AITD) hastalığıdır. Mikro besinlerin tiroid hormonunun fonksiyonunda görev aldığı ve eksikliklerinin tiroid hastalıkları ile ilişkilendirildiği gösterilmiştir. Yetişkinlerde iyot düzeyi tiroid bozukluklarının göstergesi olarak önemli yer tutmaktadır. Tiroit hormon sentezinde görevli olan deiyodinaz enzim sistemi (DIO)’nin çalışabilmesi için selenyum elzemdir. Demir, tiroit hormonlarımın üretiminde rol oynamaktadır. T3 reseptörünün içerdiği proteinin çinkoya bağlı olduğu görüşü, tiroid ve çinko arasındaki ilişkiyi açıklamaktadır. Ayrıca, kan plazmasındaki selenyum ve bakır arasındaki ilişkinin tiroid hormonu direncinin (THD) işareti olabileceği görüşü bulunmaktadır. Ciddi magnezyum yetersizliğinde hashimoto tiroidi (HT) riskinde artış görülmektedir. A vitamini eksikliğinde tiroit bozuklukları saptanılmıştır. B12 vitamini eksikliğinde görülen pernisiyöz aneminin tiroid hastalıkları ile ilişkili olduğu birçok çalışmada saptanmıştır. D vitamini vücutta reseptör oluşumunda rol almaktadır. Metabolizmanın kontrolünde reseptörler rol oynadığı için D vitamini ile tiroid hormonu arasında ilişki olabileceği düşünülmektedir. Bu araştırmada hashimoto tiroidi ve mikro besinler arasındaki ilişki araştırılmıştır.Hashimoto\"s thyroid is an autoimmune thyroid disorder (AITD) disease that causes hypothyroidism as a result of decreased production of thyroid hormones. It has been demonstrated that micro nutrients are involved in the function of thyroid hormone and their deficiencies are associated with thyroid diseases. Iodine level in adults has an important place as an indicator of thyroid disorders. Selenium is essential for the function of deiodinase enzyme system (DIO), which is involved in thyroid hormone synthesis. Iron plays a role in the production thyroid hormones. The view that the protein of T3 receptor is dependent on zinc, explains the relationship between thyroid and zinc. In addition, there is an idea that the relationship between selenium and copper in blood plasma could be a sign of thyroid hormone resistance (RTH). There is an increased risk of hashimoto’s thyroid (HT) in severe magnesium deficiency. Thyroid disorders have been detected in vitamin A deficiency. Many studies have found that pernicious anemia in vitamin B12 deficiency is associated with thyroid diseases. Vitamin D is involved in the formation of receptors in the body. Since receptors play a role in the control of metabolism, it is thought that there may be a relationship between vitamin D and thyroid hormone. In this study, the relationship between Hashimoto\"s thyroid and micro nutrients was investigated
Beden Dismorfik Bozukluk Riski ile Ortodontik Tedavi Beklentisi ve Maloklüzyon Şiddeti Arasındaki İlişkinin Değerlendirilmesi
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Clinical Outcomes of Two-Stage Implantation in Reverse Shoulder Arthroplasty for Postinfectious End-Stage Glenohumeral Arthritis in Native Shoulders: A Single-Center Cohort Study with a Minimum 2-Year Follow-up
No full textBackground: Septic arthritis of the shoulder is a rare but devastating condition that may lead to joint destruction. There are few studies and limited outcome data on shoulder arthroplasty for infected native shoulders with end-stage glenohumeral arthritis (GHA). Hence, this study aimed to demonstrate the clinical outcomes of two-stage implantation in reverse shoulder arthroplasty (RSA) using an antibiotic spacer in the first stage for this challenging condition. Methods: We conducted a retrospective study on two-stage implantation in RSA in infected shoulders. Patients were diagnosed with end-stage GHA due to primary shoulder sepsis or infection following non-arthroplasty shoulder surgery. Laboratory data, range of motion (ROM), and functional scores including American Shoulder and Elbow Surgeons score, Constant score, and Disabilities of the Arm, Shoulder and Hand score were assessed prior to spacer placement and at the latest follow-up. Furthermore, intraoperative and postoperative complications were recorded. Results: In this study, 10 patients with a mean age of 54.8 ± 15.8 years (range, 30–77 years) were included. The mean follow-up period was 37.3 ± 9.1 months (range, 25–56 months). All postoperative ROM measurements and functional scores were improved significantly. Although no reinfection was observed, a total of 5 complications including 2 hematomas, 1 intraoperative humeral fracture, 1 humeral stem loosening, and 1 anterior deltoid dysfunction were observed in 4 patients after a follow-up period of at least 2 years after RSA. Conclusions: Two-stage implantation in RSA is an effective method for improving the function and controlling the infection in postinfectious end-stage GHA in native shoulders