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Relevant bibliographies by topics / Genetic disorders

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Academic literature on the topic 'Genetic disorders'

Author: Grafiati

Published: 4 June 2021

Last updated: 9 June 2025

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Journal articles on the topic "Genetic disorders"

1

Kaur, Harpreet, and Pradeep V S. "Genetic Disorders." International Journal of Renewable Energy Exchange 11, no. 10 (October 12, 2023): 147–54. http://dx.doi.org/10.58443/ijrex.11.10.2023.147-154.

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Bishop, Kathleen Kirk. "Psychosocial Aspects of Genetic Disorders: Implications for Practice." Families in Society: The Journal of Contemporary Social Services 74, no. 4 (April 1993): 207–12. http://dx.doi.org/10.1177/104438949307400402.

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Generic disorders can potentially interfere with interpersonal relationships and normal social develop' ment as well as disrupt family life. As scientific and technological advances in medical genetics provide health professionals with a more comprehensive understanding of the origin, implications, and management of genetic disorders, professionals acquire expanded responsibilities. Social workers, who are often involved with individuals and families on a long-term basis, play an instrumental role in helping individuals and families make the necessary emotional and social adjustments following diagnosis of a genetic disease, understand the ramifications of the diagnosis, cope with the accompanying concerns, and find me appropriate services.

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Leonard, J. V. "Genetic Biochemical Disorders." Journal of Medical Genetics 23, no. 4 (August 1, 1986): 378. http://dx.doi.org/10.1136/jmg.23.4.378.

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Clayton, P. "Genetic Biochemical Disorders." Archives of Disease in Childhood 61, no. 5 (May 1, 1986): 530. http://dx.doi.org/10.1136/adc.61.5.530-a.

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Bradley, David. "Simplifying genetic disorders." Genome Biology 1 (2000): spotlight—20001005–02. http://dx.doi.org/10.1186/gb-spotlight-20001005-02.

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Galjaard, Hans, and Arnold J. J. Reuser. "Genetic storage disorders." Current Opinion in Pediatrics 1, no. 2 (December 1989): 428–35. http://dx.doi.org/10.1097/00008480-198912000-00029.

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Carey, John C. "Genetic Skin Disorders." American Journal of Human Genetics 62, no. 4 (April 1998): 998. http://dx.doi.org/10.1086/301778.

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Maxwell, Peter. "Genetic renal disorders." Medicine 47, no. 8 (August 2019): 509–16. http://dx.doi.org/10.1016/j.mpmed.2019.05.007.

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Moss, Celia. "Genetic skin disorders." Seminars in Neonatology 5, no. 4 (November 2000): 311–20. http://dx.doi.org/10.1053/siny.2000.0020.

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Irons, Mira, and Harvey L. Levy. "Genetic biochemical disorders." Trends in Genetics 2 (January 1986): 326–27. http://dx.doi.org/10.1016/0168-9525(86)90292-1.

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Dissertations / Theses on the topic "Genetic disorders"

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Melin, Malin. "Identification of Candidate Genes in Four Human Disorders." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-7344.

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Fung, Hon Chung. "Genetic characterisation of neurodegenerative disorders." Thesis, University College London (University of London), 2007. http://discovery.ucl.ac.uk/4930/.

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Our global population is ageing and an ever increasing number of elderly are affected with neurodegenerative diseases, including the subjects of the studies in this work, Alzheimer's disease (AD), Parkinson's disease (PD), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). On strong evidence that several genes may influence the development of sporadic neurodegenerative diseases, the genetic association approach was used in the work of this thesis to identify the multiple variants of small effect that may modulate susceptibility to common, complex neurodegenerative diseases. It has been shown that the common genetic variation of one of these susceptibility genes, MAPT, that of the microtubule associated protein, tau, is an important genetic risk factor for neurodegenerative diseases. There are two major MAPT haplotypes at 17q21.31 designated as H1 and H2. In order to dissect the relationship between MAPT variants and the pathogenesis of neurodegenerative diseases, the architecture and distribution the major haplotypes of MAPT have been assessed. The distribution of H2 haplotype is almost exclusively in the Caucasian population, with other populations having H2 allele frequencies of essentially zero. A series of association studies of common variation of MAPT in PSP, CBD, AD and PD in different populations were performed in this work with the hypothesis that common molecular pathways are involved in these disorders. Multiple common variants of the H1 haplotypes were identified and one common haplotype, H1c, showed preferential association with PSP and AD. A whole-genome association study of PD was also undertaken in this study in order to detect if common genetic variability exerts a large effect in risk for disease in idiopathic PD. Twenty six candidate loci have been found in this whole-genome association study and they provide the basis for our investigation of disease causing genetic variants in idiopathic PD.

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Schneider, Katja Susanne Annika. "Electrophysiological biomarkers in genetic movement disorders." Thesis, University College London (University of London), 2008. http://discovery.ucl.ac.uk/15926/.

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Background: Neurodegenerative diseases are diseases of the nervous system with progressive course leading to death. Treatment remains symptomatic. Development of neuroprotective agents has been hampered for various reasons. This includes the inability of making the diagnosis accurately early in the course and the lack of reliable disease progression markers which could be used in future treatment trials. Transcranial magnetic stimulation (TMS) is a non-invasive and pain-free method for assessment of brain function. Methods: Here we evaluated TMS and its potential of serving as a reliable biomarker for neurodegenerative diseases with genetic cause. After clinical delineation of our patient cohorts with Huntington's chorea and young-onset Parkin-related Parkinsonism, we enrolled both patients as well as asymptomatic/presymptomatic gene-carriers. Patients, carriers and age-matched healthy controls were studied using TMS to establish an electrophysiological footprint of these conditions. Results: We found abnormalities in electrophysiological parameters which were present in manifesting patients and/or non-manifesting gene mutation carriers. In HD, both presymptomatic and early manifest patients had increased resting and active motor cortex thresholds. Short afferent inhibition (SAI), a measure of sensory-motor integration, was reduced in manifesting patients only. SAI changes were inversely correlated with clinical parameters like predicted years to onset and UHDRS motor score. Abnormalities in Parkin patients included prolonged central motor conduction time (CMCT), while thresholds and cortical inhibitory activity were normal. Asymptomatic carriers had increased motor thresholds and abnormal inhibitory measures (SICI recruitment) while CMCT was normal. Conclusion: We conclude that TMS may be a potential biomarker for neurodegenerative genetic diseases: 1) to detect changes early in the disease course and to monitor disease progression; 2) to help differentiating between clinically similar diseases on the basis of certain electrophysiological patterns; and 3) to give insight into underlying mechanisms of the disorders studied. Our findings suggest the potential for future research.

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Migdalska, Anna Marta. "Modelling human genetic disorders in mice." Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610341.

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Leiser, Kimberly A. "Assessing the association between the increased resolution of the signaturechip WG and the abnormality detection rate." Pullman, Wash. : Washington State University, 2009. http://www.dissertations.wsu.edu/Thesis/Spring2009/k_leiser_042709.pdf.

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Thesis (Master of Health Policy and Administration)--Washington State University, May 2009.<br>Title from PDF title page (viewed on June 5, 2009). "Department of Health Policy and Administration." Includes bibliographical references (p. 34-39).

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Spataro, Nino 1984. "Human genetic disorders: Mendelian and complex diseases." Doctoral thesis, Universitat Pompeu Fabra, 2016. http://hdl.handle.net/10803/482220.

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From Darwin’s “On the Origin of Species”, many years elapsed before human diseases were considered in an evolutionary framework. Besides theoretical and empirical advances, we are far from the complete understanding of disease aetiology. Highly penetrant disorders with Mendelian inheritance are mostly explained by the mutation-selection balance model, which is insufficient to describe the selective pressures acting on the full set of alleles related to diseases. We show in the first two papers that Next Generation Sequencing (NGS) technologies provide a unique opportunity to investigate variation and contribute to the understanding of the genetic architecture of disease. Besides exploring the role of rare and copy number variants in Parkinson’s disease (PD), we demonstrate the functional relation between Mendelian and idiopathic PD. In the last paper, we report that variation in genes previously related to Mendelian disorders has a more important role in driving complex disease susceptibility than genes associated only to complex diseases.<br>Des de l'Origen de les Espècies de Darwin van passar molts anys abans que les malalties humanes fossin considerades sota un marc evolutiu. Tanmateix, tot i els darrers avenços teòrics i empírics, estem molt lluny de tenir una comprensió completa de l'etiologia de les malalties humanes. Mentre els trastorns altament penetrants amb herència mendeliana poden explicar-se sota un model d’equilibri mutació-selecció, aquest és insuficient per descriure les pressions selectives que actuen sobre tot el conjunt d'al·lels associats a malalties. Mostrem en els dos primers treballs que les noves tecnologies de seqüenciació proporcionen una oportunitat única per investigar la variació i contribuir a la comprensió de l'arquitectura genètica de la malaltia. A més d'explorar el paper de les variants rares i en el nombre de còpies en la malaltia de Parkinson (PD), demostrem la relació funcional entre les formes mendelianes i idiopàtiques d’aquesta malaltia. En el darrer treball, mostrem sota una perspectiva evolutiva i funcional que, en comparació amb la variació genètica en gens associats només a malalties complexes, la variació en gens prèviament relacionats amb trastorns Mendelians sembla tenir un paper clarament més important en la susceptibilitat a la malaltia complexa.

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Valente, Enza Maria. "Movement disorders : a clinical and genetic study." Thesis, University College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.405854.

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Dubois, Patrick Charles Alexander. "Genetic risk variants in intestinal inflammatory disorders." Thesis, Queen Mary, University of London, 2010. http://qmro.qmul.ac.uk/xmlui/handle/123456789/704.

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This thesis includes work on the genetics of intestinal inflammatory disorders, concentrating on coeliac disease and Crohn’s disease. It explores how common genetic variants influence risk of complex phenotypes including immunological intolerance to gluten (coeliac disease) and intolerance to therapeutic agents (azathioprine and mercaptopurine) used in the treatment of intestinal inflammatory diseases. Finally it presents work aiming to move from genetic associations with complex phenotypes to understanding of how these variants modulate immunological processes. Results of a large genome wide association study that identified more than 13 new genetic risk regions influencing susceptibility to coeliac disease are presented. Results of a genome wide association study of azathioprine and 6-mercaptopurine-induced pancreatitis in inflammatory bowel disease-affected individuals are presented. Finally, a cell cytokine release assay for the prostaglandin EP4 receptor was developed, with a view to investigating how SNPs associated with Crohn’s disease in the 5p13.1 region influence EP4 receptor signalling and contribute to disease pathogenesis. This work highlights some of the challenges in moving from SNP-disease associations identified in GWASs to understanding how genetic variants change biological processes.

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Liskova, P. "Molecular genetic study of inherited corneal disorders." Thesis, University College London (University of London), 2009. http://discovery.ucl.ac.uk/18007/.

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The inherited corneal diseases form a clinically and genetically heterogeneous group of disorders. They include the various types of progressive corneal dystrophies as well as some corneal structural abnormalities for which there is thought to be a genetic basis. These conditions are distinct from the corneal degenerations that result solely from aging or environmental effects. In this thesis I have concentrated on some selected inherited disorders. To try to improve our understanding of the disease mechanisms I have phenotyped affected families, performed candidate gene screening, and made genotype-phenotype correlations. I have collected the largest cohort of families with keratoconus reported to date and probands were screened for mutations in the VSX1 gene previously reported to be associated with this disorder. No disease-causing mutations were identified confirming that this gene only plays a very minor role in the pathogenesis of keratoconus. In a white British family with cornea plana the c.740A>G mutation within the KERA gene was identified and evidence was sought for a common founder with previously reported Finnish patients with cornea plana. One novel mutation was found and common founder in some of the cases was suggested. Disease-causing changes were found in seven Czech families with anterior and stromal corneal dystrophies known to be associated with the TGFBI gene and, of great interest, was a novel phenotype in a family with a p.H626P change. A set of Czech families with macular corneal dystrophy was screened for mutations in the CHST6 gene. In one British family with early-onset Fuchs endothelial corneal dystrophy we demonstrated a previously reported p.L450W mutation in the COL8A2 gene. Finally, by screening all three known genes implicated in posterior polymorphous corneal dystrophy four novel mutations were identified in the ZEB1 gene which provides additional evidence for the genetic heterogeneity of this disorder.

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Chen, Huijia. "Skin barrier dysfunction in common genetic disorders." Thesis, University of Dundee, 2011. https://discovery.dundee.ac.uk/en/studentTheses/37ccdf72-e6b2-43e2-b5a0-954be5cb6811.

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One of the most important roles of the skin is the formation of an effective barrier to prevent desiccation as well as to keep out foreign pathogens and allergens. This is a tightly regulated process and involves many structural proteins, lipids, enzymes and biochemical components. One of the proteins that has an indispensable role in barrier formation is filaggrin, which is encoded by the filaggrin gene (FLG) that lies within a cluster of epidermal genes known as the epidermal differentiation complex (EDC) on chromosome 1q21. Recent studies in Europe have shown that null mutations in FLG lead to the loss of the filaggrin protein; this is the underlying genetic cause of ichthyosis vulgaris (IV) and is a significant predisposing factor for atopic dermatitis (AD) and other atopic conditions such as asthma, allergic rhinitis and food allergy. In this thesis, the critical role of FLG-null mutations was examined and confirmed as a strong predisposing factor for AD in Singaporean Chinese patients. In addition, AD patients with FLG mutations also showed an increased susceptibility for recurrent skin infections. Interestingly, a diverse and wide spectrum of FLG-null mutations was identified in the Singaporean Chinese population, as opposed to the dominance of a few common FLG mutations in Europe. This result highlighted discrete genetic variations between different ethnic groups. FLG-null mutations were also shown to have significant gene modifying effects on other skin barrier genes such as steroid sulphatase gene (STS) to exacerbate the phenotype of X-linked ichthyosis (XLI). Next, the effect of FLG¬-null mutations on other complex conditions such as acne vulgaris and childhood peanut sensitisation was investigated but no significant association of FLG mutations with these diseases were observed in the Singaporean Chinese population. Lastly, a study was attempted to search for a candidate gene for psoriasis within the EDC, through the use of fine mapping techniques. With the advent of faster and cheaper next generation sequencing (NGS) in the near future, the quest for susceptibility factors in complex traits will increase in effectiveness and speed.

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Books on the topic "Genetic disorders"

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Parks, Peggy J. Genetic disorders. San Diego, CA: ReferencePoint Press, 2009.

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Parks, Peggy J. Genetic disorders. San Diego, CA: ReferencePoint Press, 2009.

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Parks, Peggy J. Genetic disorders. San Diego, CA: ReferencePoint Press, 2009.

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Katherine, Swarts, ed. Genetic disorders. Detroit: Greenhaven Press, 2009.

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Shprintzen, Robert J. Genetics, syndromes, and communication disorders. San Diego: Singular Pub. Group, 1997.

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Angelini, Corrado. Genetic Neuromuscular Disorders. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-56454-8.

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Angelini, Corrado. Genetic Neuromuscular Disorders. Cham: Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-07500-6.

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H, Fensom Anthony, ed. Genetic biochemical disorders. Oxford: Oxford University Press, 1985.

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Benson, P. F. Genetic biochemical disorders. Oxford [Oxfordshire]: Oxford University Press, 1985.

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Umair, Muhammad, Misbahuddin Rafeeq, and Qamre Alam, eds. Rare Genetic Disorders. Singapore: Springer Nature Singapore, 2024. http://dx.doi.org/10.1007/978-981-99-9323-9.

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Book chapters on the topic "Genetic disorders"

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Massart, Mylynda Beryl. "Genetic Disorders." In Family Medicine, 205–16. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-04414-9_16.

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Bachman, John W. "Genetic Disorders." In Family Medicine, 138–45. New York, NY: Springer New York, 1998. http://dx.doi.org/10.1007/978-1-4757-2947-4_16.

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Bachman, John W. "Genetic Disorders." In Family Medicine, 141–48. New York, NY: Springer New York, 2003. http://dx.doi.org/10.1007/978-0-387-21744-4_16.

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Massart, Mylynda Beryl. "Genetic Disorders." In Family Medicine, 1–12. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-1-4939-0779-3_16-1.

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Massart, Mylynda Beryl. "Genetic Disorders." In Family Medicine, 1–15. New York, NY: Springer New York, 2020. http://dx.doi.org/10.1007/978-1-4939-0779-3_16-2.

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Awaad, Yasser M. "Genetic Disorders." In Absolute Pediatric Neurology, 29–116. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-78801-2_3.

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Scahill, Lawrence David, Koorosh Kooros, Ramon Barinaga, Rechele Brooks, Marisela Huerta, Lindsey Sterling, Jeffrey J. Wood, et al. "Genetic Disorders." In Encyclopedia of Autism Spectrum Disorders, 1432. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-1698-3_100640.

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Chaitanya, K. V. "Genetic Disorders." In Diagnostics and Gene Therapy for Human Genetic Disorders, 81–115. Boca Raton: CRC Press, 2022. http://dx.doi.org/10.1201/9781003343790-3.

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Laskaris, George, and Crispian Scully. "Genetic Disorders." In Periodontal Manifestations of Local and Systemic Diseases, 119–57. Berlin, Heidelberg: Springer Berlin Heidelberg, 2003. http://dx.doi.org/10.1007/978-3-642-55596-1_16.

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Baum, Andrew S., and John P. Garofalo. "Genetic disorders." In Encyclopedia of Psychology, Vol. 3., 464–66. Washington: American Psychological Association, 2000. http://dx.doi.org/10.1037/10518-221.

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Conference papers on the topic "Genetic disorders"

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Kamalam, G. K., N. Suganya Baby, R. Dharunya, J. Harini, and T. Kowres. "An InDepth Analysis of AI Techniques for Predicting Genetic Disorders." In 2024 15th International Conference on Computing Communication and Networking Technologies (ICCCNT), 1–7. IEEE, 2024. http://dx.doi.org/10.1109/icccnt61001.2024.10724838.

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Vaibhav, Kolla, G. Kalyani, Sribhashyam Sashank Sai, and Namballa Ram Tarun. "Genomic Risk Assessment and Early Intervention for Rare Genetic Disorders." In 2024 5th International Conference on Smart Electronics and Communication (ICOSEC), 1759–65. IEEE, 2024. http://dx.doi.org/10.1109/icosec61587.2024.10722427.

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Nandy, Aadrita, and Parshotam. "Advancements in Machine Learning for Predictive Modeling of Genetic Disorders." In 2025 3rd International Conference on Disruptive Technologies (ICDT), 1200–1204. IEEE, 2025. https://doi.org/10.1109/icdt63985.2025.10986508.

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Revathi, K., V. V. Karthikeyan, S. Priyanka, and S. Jaya Prakash. "Unveiling Genetic Disorders: Machine Learning and Deep Learning Approaches in Gene Expression Analysis." In 2024 Second International Conference on Intelligent Cyber Physical Systems and Internet of Things (ICoICI), 1315–20. IEEE, 2024. http://dx.doi.org/10.1109/icoici62503.2024.10696060.

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Eluri, Rama Krishna, Aila Manogna, Yamini Chandana, Sireesha Moturi, Chennupalli Gayathri, Tanniru Akhila, and Kondepogu Yuvasri. "AI-Powered Early Detection of Genetic Disorders in Fetuses Using Machine Learning Models." In 2024 First International Conference for Women in Computing (InCoWoCo), 1–7. IEEE, 2024. https://doi.org/10.1109/incowoco64194.2024.10863263.

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Sarathamani, T., K. Kavitha, C. Thirumoorthi, K. Jayanthi Vagini, P. Manikandaprabhu, and P. Sumathi. "Artificial Intelligence Strategies for Accurate Segmentation and Categorization of Unveiling Genetic Disorders in Bioinformatics." In 2024 2nd International Conference on Self Sustainable Artificial Intelligence Systems (ICSSAS), 319–24. IEEE, 2024. https://doi.org/10.1109/icssas64001.2024.10760420.

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Lugo-Ramos, L. E., M. Collazo-Roman, D. De Sola, and W. De Jesus-Rojas. "Case Series: Pediatric Sleep-Disordered Breathing in Rare Genetic Disorders." In American Thoracic Society 2021 International Conference, May 14-19, 2021 - San Diego, CA. American Thoracic Society, 2021. http://dx.doi.org/10.1164/ajrccm-conference.2021.203.1_meetingabstracts.a3481.

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Sen, Madhura, Rajkumar Rajasekaran, A. JayaRam Reddy, and Govinda K. "Predicting Genetic Disorders: A Link Mining Approach." In 2024 International Conference on Intelligent and Innovative Technologies in Computing, Electrical and Electronics (IITCEE). IEEE, 2024. http://dx.doi.org/10.1109/iitcee59897.2024.10467830.

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Rogers, Ian, and Ranjan Srivastava. "Using ensemble modeling to determine causes of multifactorial disorders." In GECCO '18: Genetic and Evolutionary Computation Conference. New York, NY, USA: ACM, 2018. http://dx.doi.org/10.1145/3205651.3205686.

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PONOMARI, Dorina. "Speech therapy assistance in the context of genetic disorders." In Ştiință și educație: noi abordări și perspective. "Ion Creanga" State Pedagogical University, 2023. http://dx.doi.org/10.46727/c.v1.24-25-03-2023.p179-184.

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Language presents a complex psychic process and many negative factors can affect it in its evolutionary path. These factors can be external psychosocial but also internal. Genetic disorders can mark to a greater or lesser extent the phenotype of the child with impact on the central nervous system and the speech apparatus. Children with some genetic conditions have difficulties in language development and often need speech therapy assistance, however early speech therapy intervention given at an early age will improve language development.

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Reports on the topic "Genetic disorders"

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Andrews, Lori, B. Complex Genetic Disorders and Intellectual Property Rights Final Report. Office of Scientific and Technical Information (OSTI), November 2006. http://dx.doi.org/10.2172/895052.

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Andrews, Lori. Ethical and legal issues arising from complex genetic disorders. DOE final report. Office of Scientific and Technical Information (OSTI), October 2002. http://dx.doi.org/10.2172/805433.

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Saini, Ravinder, Syed Altafuddin, Sunil Vaddamanu, Vishwanath Gurumurthy, and Masroor Kanji. The Association Between Genetic Factors and Temporomandibular Disorders: A Systematic Literature Review. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, April 2024. http://dx.doi.org/10.37766/inplasy2024.4.0063.

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Zhenni, Mu, Le Lei, Shen Sinan, and Tang Li. Effectiveness of integrated Chinese herbal medicine Shoutai Pill and Western medicine in the treatment of recurrent pregnancy loss: A protocol for systematic review and meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, October 2021. http://dx.doi.org/10.37766/inplasy2021.10.0062.

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Review question / Objective: We provide a protocol to evaluate the efficacy of integrated Shoutai Pill and Western medicine to update the evaluation for the best available and security treatment for recurrent pregnancy loss(RPL). Condition being studied: Recurrent pregnancy loss (RPL) is a distinct disorder defined by two or more consecutive pregnancy failures before 20 gestational weeks infertile couples. The incidence of this disease accounts for about 1%-5% of women of reproductive age and seriously affects their physical and psychological health. At present, the known etiology of this disease mainly includes abnormal anatomic structures, genetic abnormality, endocrine disorders, prethrombotic status, abnormal immune function, infection, etc. Excluding the above factors, approximately 40-50% of RPL remain unexplained, known as unexplained recurrent pregnancy loss (URPL). At present, the main therapeutic methods of RPL are surgical therapy, preimplantation genetic diagnosis (PGD), hormone therapy, anti-infection therapy, anticoagulation, and immunoregulatory therapy, etc. However, there is no effective treatment has been identified for URPL. Therefore, we still need to investigate effective treatments to reduce pregnancy losses and maintain successful pregnancy preservation in these patients.

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Figueredo, Luisa, Liliana Martinez, and Joao Paulo Almeida. Current role of Endoscopic Endonasal Approach for Craniopharyngiomas. A 10-year Systematic review and Meta-Analysis Comparison with the Open Transcranial Approach. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, January 2023. http://dx.doi.org/10.37766/inplasy2023.1.0045.

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Review question / Objective: To identify and review studies published in the last ten years, presenting the efficacy and outcomes of EEA and TCA for patients with cranio-pharyngiomas. Eligibility criteria: Studies meeting the following criteria were included: (a) retrospective and prospective studies and (b) observational studies (i.e., cross-sectional, case-control, case-series). The outcomes included visual outcomes (improvement, no changes, worsening), endocrinological outcomes (permanent diabetes insipidus and hypopituitarism), operatory site infection, meningitis, cerebrospinal fluid leak, stroke, hemorrhage, and mortality. Studies were excluded if they were determined to be: (a) case-report studies, (b) studies testing genetic disorders, (c) poster presentation abstracts without full-text availability, (d) systematic reviews, and (e) metanalyses.

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Paul, Satashree. Autism Spectrum Disorder. Science Repository, February 2021. http://dx.doi.org/10.31487/sr.blog.26.

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Hirankarn, Nattiya, Tanapat Palaga, Yingyos Avihingsanon, and Pimpayao Sodsai. The characterization of the two new genes, PTGS2 and PSN2 involving in the T lymphocyte apoptosis of lupus patients: Role of genetic polymorphism and epigenetic alteration. Chulalongkorn University, 2006. https://doi.org/10.58837/chula.res.2006.28.

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Systemic lupus erthematosus (SLE) is a prototype of autoimmune disease characterized by tissue deposition of autoantibody immune complex formation. However, etiology of disease remains unclarified. Defects of T lymphocytes lead to loss of immunological tolerance and support autoantibody production suggested that they may consistently have a central role in pathogenesis of SLE. Notch signaling is an evolutionarily conserved pathway responsible for thymocyte development, activation, proliferation, differentiation and T cell functions. Several evidences suggest Notch signaling involvement in autoimmune disorders. The aim of this study was to investigate the correlation of Notch1 receptor expression in T lymphocytes with disease progression. Twenty-two Thai SLE patients and eleven healthy controls were recruited for the study. Notch1 expression in PHA-stimulated T lymphocytes of SLE patients that indicated significantly defective regulation of Notch1 in activated T lymphocytes of SLE patients with active stage (p=0.025) while stimulated T lymphocytes of SLE patients with inactive stage were indifferent expression of Notch1 compared with healthy controls that quantified by real-time RT-PCR. It was confirmed by conventional RT-PCR that showed deceleration of Notch1 expression in SLE (p=0.015). As well as Notch1 protein expression, it was downregulated in active SLE compared to controls and inactive SLE (p=0.001 and 0.037, respectively). However, Hes1 that was target of Notch signaling did not reduce expression in SLE T lymphocytes. Moreover, proliferation capacity in SLE patients did not defect. These results showed converse correlation of Notch1 expression with severity of SLE. The data reveal the defective Notch1 in T cells that is possibly uncovered new factor of pathogenesis in SLE.

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Bhaskar Kalarani, Iyshwarya, and Ramakrishnan Veerabathiran. Study of genetic polymorphisms in autism spectrum disorder. Peeref, October 2022. http://dx.doi.org/10.54985/peeref.2210p6305148.

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Wang, Xinrun, Tianye Li, Xuechai Bai, Yun Zhu, and Meiliang Zhang. Therapeutic prospect on umbilical cord mesenchymal stem cells in animal model with primary ovarian insufficiency: A meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, May 2023. http://dx.doi.org/10.37766/inplasy2023.5.0075.

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Review question / Objective: Participants: experiment POI animal models; Interventions: human umbilical cord mesenchymal stem cells; Comparisons: POI animal models without hUCMSC therapy; Outcomes: estrous cycle situation, serum sex hormone level and ovarian follicle count; Studies: randomized controlled animal study; The aim of the review is to figure out whether hUCMSC can recover ovarian function in POI animal models. Condition being studied: Primary ovarian insufficiency (POI) is a syndrome characterized by reduced or absent ovarian function (hypogonadism) and elevated levels of gonadotropins, specifically luteinising hormone (LH) and follicle-stimulating hormone (FSH). Etiologies of POI are various. Genetic disorders, autoimmune diseases, iatrogenic injuries like chemotherapy and radiotherapy, and infectious diseases all contribute to the development of POI. Main manifestation of POI includes decreased ovarian function and infertility. Patients may suffer from menopausal symptoms, such as increased cardiovascular disease, decreased bone mineral density, vulvovaginal atrophy, psychological distress and so on. Current treatment of POI is limited. HRT mainly ameliorates symptoms while ART can achieve fertility in some patients but faces many challenges in clinical practice because it's hard to get satisfied oocytes. Stem cell therapy is proved to be efficient in recovering organ functions and hUCMSC is one of the easiest cell to obtain. So we think hUCMSC is promising in treating POI.

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Zhian, Samaneh. Molecular Genetic Analysis of CRELD1 in Patients with Heterotaxy Disorder. Portland State University Library, January 2000. http://dx.doi.org/10.15760/etd.410.

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