86 research outputs found
The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory
No full textPubMedID: 29888287Introduction. Primary immune deficiency disorders (PIDs) are a group of diseases with profound defects in immune cells. The traditional diagnostics have evolved from clinical evaluation, flow cytometry, western blotting, and Sanger sequencing to focusing on small groups of genes. However, this is not sufficient to confirm the suspicion of certain PIDs. Our innovative approach to diagnostics outlines the algorithm for PIDs and the clinical utility of immunophenotyping with a custom-designed multigene panel. Materials and Methods. We have designed a diagnostic algorithm based on flow cytometry studies to classify the patients; then the selected multigene panel was sequenced. In silico analysis for mutations was carried out using SIFT, Polyphen-2, and MutationTaster. Results and Discussion. The causative mutation was identified in 46% of PIDs. Based on these results, this new algorithm including immune phenotyping and NGS for PIDs was suggested for the clinical use. Conclusions. This study provides a thorough validation of diagnostic algorithm and indicates that still the traditional methods can be used to collect significant information related to design of most current diagnostics. The benefits of such testing are for diagnosis and prevention including the prenatal and preimplantation diagnosis, prognosis, treatment, and research. © 2018 Atil Bisgin et al.TAY-2016-4020The authors sincerely thank the patients and the families that have enrolled. They also recognize the contributions of their laboratory staff for their considerable efforts in providing comprehensive testing. The study was supported by Scientific Research Project Coordination Unit of Cukurova University, Adana, Turkey (TAY-2016-4020)
A Rare Double Aneuploidy Case (Down-Klinefelter)
No full textWOS: 000415273800007PubMed ID: 29142768Down's syndrome has its own dysmorphic findings and is accompanied by mental retardation and hypotonia. Klinefelter's syndrome is a syndrome caused by a numerical abnormality that affects male physical and cognitive development. This case reports a unique finding of 48,XXY, + 21 and a current literature review. A 4-month-old male patient presented with typical clinical features of Down's syndrome with hypothyroidism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus without any phenotypic signs of Klinefelter's syndrome
Three-Dimensional Cartilage Tissue Engineering Using Placenta-Derived Extra-Embryonic Mesenchymal Stem Cells: From Isolation to Differentiation
No full textBackground/Objectives: Mesenchymal stem cells (MSCs) offer promising prospects for novel treatment modalities in cellular therapies and artificial organ production. Despite a surge in artificial tissue research, there is a dearth of comprehensive studies detailing the entire process from stem cells to tissue production, coupled with a scarcity. This study, however, presents the utility of extra-embryonic MSCs derived from placental tissue, traditionally considered as medical waste. Methods: Within a 3-dimensional cell culture system, histological assessments, and comprehensive optimization studies, the entire process required for artificial tissue production is addressed. Results: The results obtained are encouraging regarding the advancement of cellular therapies and artificial tissue engineering. However, challenges such as biopolymer degradation highlight the necessity for multistep approaches. Each analysis within this study delves into the discussion and optimization of key steps in artificial tissue production. Conclusions: Consequently, this study not only represents one of the first of its kind but also lays the groundwork for future investigations into relevant clinical applications
Health outcomes, education, healthcare delivery and quality – 3038: The relation of sTRAIL levels and quality of life in omalizumab using severe persistent allergic asthma patients
No full textValidation and implementation of next-generation sequencing in liquid biopsies by a novel NGS platform: Focus on non-small cell lung cancer
No full textAnnual Meeting of the American-Association-for-Cancer-Research (AACR) -- APR 14-18, 2018 -- Chicago, ILWOS: 000468819501397…Amer Assoc Canc Re
Mitochondrial membrane protein–associated neurodegeneration: A case series of six children
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Health outcomes, education, healthcare delivery and quality – 3052. IL-17, IL-18, TGF-beta and GMCSF levels in patients with allergic asthma: Its relation to omalizumab treatment
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