المؤلفون: Banu Guven Ezer, Eyyup Rencuzogullari

المصدر: Genes & Genetic Systems. 2023, 98(4):171

المؤلفون: Hakim Si Ahmed, Ouardia Belarbi, Smail Daoudi, Pierre Labauge, Clarisse Carra-Dalliere, Schmitt Perrine, Sanchez Pauline, Séverine Drunate, Hélène Cavé

المصدر: Romanian Journal of Neurology, Vol 21, Iss 2, Pp 115-118 (2022)

مصطلحات موضوعية: polr3a-related leukodystrophy, ataxo-spasmodic hypomyelinating leukodystrophy, genetics, new mutation variant c.3892-5c > t, Medicine, Neurology. Diseases of the nervous system, RC346-429

الوصف: Polymerase III (Pol III) related leukodystrophy is a rare class of leukodystrophy, recently recognized affecting the nervous system and other body systems with typical clinical presentation and imaging results. The diagnosis is made by characteristic combination of clinical signs, brain magnetic resonance imaging results and the presence of pathogenic biallelic mutations in specific genes: POLR3A, POLR3B, POLR3C which encode the RNA polymerase III enzyme subunits. We present the case of a 32-year-old young man who presented with spastic ataxia due to a new rare mutation in the POLR3A gene, splicing variant c.3892-5C > T.

وصف الملف: electronic resource

العلاقة: https://rjn.com.ro/articles/2022.2/RJN_2022_2_Art-04.pdfTest; https://doaj.org/toc/1843-8148Test; https://doaj.org/toc/2069-6094Test

الوصول الحر: https://doaj.org/article/77e8787538a443048631f682d42bd146Test

المؤلفون: Raynard Christianson Sanito, Dwi Rasy Mujiyanti, Sheng-Jie You, Ya-Fen Wang

مصطلحات موضوعية: Medicine, Molecular Biology, Cancer, Science Policy, Infectious Diseases, Virology, Biological Sciences not elsewhere classified, namely face masks, last 3 yr, current issues related, specific medical waste, major concern associated, new pandemic near, especially conventional technologies, review presented information, potential outbreak pandemic, new viruses near, new mutation viruses, medical waste treatment, handling medical waste, review also describes, future ., medical waste, mutation near, new viruses, pandemic situation, medical wastes, environmental issues, also information, experience associated

الوصف: Since the outbreak of COVID-19 few years ago, the increasing of the number of medical waste has become a huge issue because of their harmful impact to environment. A major concern associated to the limitation of technologies for dealing with medical waste, especially conventional technologies, are overcapacities since pandemic occurs. Moreover, the outbreak of new viruses from post COVID-19 should become a serious attention to be prevented not only environmental issues but also the spreading of viruses to new pandemic near the future. The high possibility of an outbreak of new viruses and mutation near the future should be prevented based on the experience associated with the SARS-CoV-2 virus in the last 3 yr. This review presented information and strategies for handling medical waste during the outbreak of COVID-19 and post-COVID-19, and also information on the current issues related to technologies, such as incineration, pyrolysis/gasification, autoclaves and microwave treatment for the dealing with high numbers of medical waste in COVID-19 to prevent the transmission of SARS-CoV-2 virus, their advantages and disadvantages. Plasma technology can be considered to be implemented as an alternative technology to deal with medical waste since incinerator is usually over capacities during the pandemic situation. Proper treatment of specific medical waste in pandemics, namely face masks, vaccine vials, syringes, and dead bodies, are necessary because those medical wastes are mediums for transmission of the SARS-CoV-2 virus. Furthermore, emission controls from incinerator and plasma are necessary to be implemented to reduce the high concentration of CO 2 , NO x , and VOCs during the treatment. Finally, future strategies of medical waste treatment in the perspective of potential outbreak pandemic from new mutation viruses are discussed in this review paper. Implications: Journal of the air and waste management association may consider our review paper to be published. In this review, we give important information ...

العلاقة: https://figshare.com/articles/journal_contribution/A_review_on_medical_waste_treatment_in_COVID-19_pandemics_Technologies_managements_and_future_strategies/24552414Test

الإتاحة: https://doi.org/10.6084/m9.figshare.24552414.v1Test
https://figshare.com/articles/journal_contribution/A_review_on_medical_waste_treatment_in_COVID-19_pandemics_Technologies_managements_and_future_strategies/24552414Test

المؤلفون: Rezvan Abtahi, Parvaneh Karimzadeh, Omid Aryani, Diba Akbarzadeh, Shadab Salehpour, Alireza Rezayi, Seyed Hassan Tonekaboni, Reza Zolfaghari Emameh, Massoud Houshmand

المصدر: Hereditas, Vol 159, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Niemann-Pick C, Molecular Study, New Mutation, Genetics, QH426-470

الوصف: Abstract Background Niemann-Pick disease type C (NPC) is a rare lysosomal neurovisceral storage disease caused by mutations in the NPC 1 (95%) or NPC2 (5%) genes. The products of NPC1 and NPC2 genes play considerable roles in glycolipid and cholesterol trafficking, which could consequently lead to NPC disease with variable phenotypes displaying a broad spectrum of symptoms. Materials In the present study 35 Iranian NPC unrelated patients were enrolled. These patients were first analysed by the Filipin Staining test of cholesterol deposits in cells for NPC diagnostics. Genomic DNA was extracted from the samples of peripheral blood leukocytes in EDTA following the manufacturer's protocol. All exon–intron boundaries and coding exons of the NPC1gene were amplified by polymerase chain reaction (PCR) using appropriate sets of primers. Thereafter, the products of PCR were sequenced and analysed using the NCBI database ( https://blast.ncbi.nlm.nih.gov/Blast.cgiTest ). The variants were reviewed by some databases including the Human Gene Mutation Database (HGMD) ( http://www.hgmd.cf.ac.uk/ac/index.phpTest ) and ClinVar ( https://www.ncbi.nlm.nih.gov/clinvarTest (. Moreover, all the variants were manually classified in terms of the American College of Medical Genetics and Genomics (ACMG) guideline. Results The sequence analysis revealed 20 different variations, 10 of which are new, including one nonsense mutation (c.406C > T); three small deletions, (c.3126delC, c.2920_2923delCCTG, and c.2037delG); and six likely pathogenic missense mutations, (c.542C > A, c.1970G > A, c.1993C > G, c.2821 T > C, c.2872C > G, and c.3632 T > A). Finally, the pathogenicity of these new variants was determined using the ACMG guidelines. Conclusion The present study aimed to facilitate the prenatal diagnosis of NPC patients in the future. In this regard, we identified 10 novel mutations, and verified that the majority of them occurred in six NPC1 exons (5, 8, 9, 13, 19, and 21), that should be considered with a high priority for Iranian patients' cost-effective evaluation.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1601-5223Test

الوصول الحر: https://doaj.org/article/89fe1bfb835849d6bf7551f6d57fb117Test

المؤلفون: Jianping Xu, MS, Faping Cui, MS, Shuixiu Dou, MS, Jiafu Ou, MD

المصدر: Advanced Ultrasound in Diagnosis and Therapy, Vol 5, Iss 3, Pp 249-253 (2021)

مصطلحات موضوعية: echocardiography, marfan syndrome, fbn1 genes, new mutation, Medical technology, R855-855.5, Medicine

الوصف: A case of Marfan syndrome was followed up by echocardiography for 13 years to observe the evolution of cardiovascular disease. The initial cardiovascular manifestations of this patient were "mitral myxoid degeneration, chordal rupture, leaflet prolapse, and massive regurgitation". Subsequently, after several years of development, the aortic sinus and ascending aortic aneurysm dilatation appeared and a new gene mutation site G4331A of FBN1 was found by genetic testing in this patient. Whether the new gene mutation site is related to the initial manifestation of the patient's cardiovascular disease with "mitral valve disease" remains to be further verified.

وصف الملف: electronic resource

العلاقة: http://www.journaladvancedultrasound.com:81/fileup/2576-2516/PDF/1630472707273-1791981006.pdfTest; https://doaj.org/toc/2576-2516Test

الوصول الحر: https://doaj.org/article/edf35f001cb04c22adfb2d650a3a32f7Test

المؤلفون: Chunli Chen, Sitong Guo, Rui Zhao, Shoubin Liu, Jingjing Wu, Yuanyuan Xiao, Simeng Hou, Libin Jiang

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: FEVR, new mutation of LRP5, OPA1, fraternal twin, case report, Genetics, QH426-470

الوصف: Background: The study aimed to report a boy with familial exudative vitreoretinopathy and amblyopia harboring a new mutation of the LRP5 and OPA1 gene abnormality.Case presentation: A 9-year-old boy presented with a 2-year history of deteriorating visual acuity in the right eye. His best-corrected visual acuity was −7.00/−1.75 × 100 = 0.3 in the right eye and −2.50/−1.50 × 170 = 0.8 in the left eye. Two autosomal dominant gene mutation sites were identified in the patient: LRP5 (c.2551C > T, p.His851Tyr) from his father and OPA1 (c.565G > A, p.Glu189Lys) from his mother. Interestingly, his fraternal twin brother harbored no abnormal gene mutations, and his eye tests were normal.Conclusion: This case expands the spectrum of LRP5 gene mutations among Chinese patients with familial exudative vitreoretinopathy, and it is the first time to report a patient harboring both LRP5 and OPA1 gene mutations having anisometropic amblyopia and strabismus as the primary manifestations. These four family members exhibited individual heterogeneity of phenotypes and genotypes associated with hereditary ophthalmopathy. A comprehensive analysis of clinical phenotypes and genotypes provides clinical clues for improving the level of clinical and genetic diagnoses and a deeper understanding of the disease.

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.998846/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/649d844aebc74c6298deaadfc17d730bTest

المؤلفون: Ning Jia, Lianpeng Chang, Xin Gao, Xiaohua Shi, Xuelin Dou, Mei Guan, Yajuan Shao, Ningning Li, Yuejuan Cheng, Hongyan Ying, Zhao Sun, Yanping Zhou, Lin Zhao, Jianfeng Zhou, Chunmei Bai

المصدر: BMC Cancer, Vol 21, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: New mutation, Circulating tumour DNA, Next generation sequencing, Biomarker, Metastatic colorectal cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

الوصف: Abstract Background The understanding of molecular changes in mCRC during treatment could be used to personalise therapeutic strategies. The aim of our study was to explore the association of circulating tumour DNA (ctDNA) with clinical outcome in metastatic colorectal cancer (mCRC). Methods Sequential patients with mCRC receiving standard first-line chemotherapy were included prospectively. Both plasma ctDNA and serum CEA were assessed in samples obtained before treatment and after 4 cycles of chemotherapy (C4). Computed tomography (CT) scans were carried out at baseline and post-C4 (8–10 weeks) and were assessed using Response Evaluation Criteria In Solid Tumours version 1.1 (RECIST v1.1). Target-capture deep sequencing with a panel covering 1021 genes was performed to detected somatic mutations in ctDNA. Results A total of 20 patients were prospectively included and treated with either leucovorin, fluorouracil, and oxaliplatin (FOLFOX) (15/20) or leucovorin, fluorouracil, and irinotecan (FOLFIRI) (5/20). Median follow-up was 6.9 months (range 1.6–26.6). Somatic mutations for baseline ctDNA analysis were identified in 85% (17/20) of the patients. Mutation variations of ctDNA after chemotherapy were tested in 16/20 (80.0%) of the patients. In multivariate analyses, a high baseline molecular tumour burden index (mTBI) in ctDNA was associated with a higher risk of disease progression, as well as emergence of new mutations in ctDNA during chemotherapy. Patients with newly detected mutations had shorter progression-free survival (PFS) compared to those without (median 3.0 versus 7.3 months; hazard ratio (HR), 5.97; 95% confidence interval (CI), 0.70–50.69; P = 0.0003). Fold changes in mTBI from baseline to post-C4 were obtained in 80.0% (16/20) of the patients, which were also related to PFS. Patients with fold reduction in mTBI above 0.8-fold had longer PFS compared to those below (median 9.3 versus 4.1 months; HR, 4.51; 95% CI, 1.29–15.70; P = 0.0008). Conclusions Newly detected mutations in ctDNA during treatment might potentially be associated with clinical outcome in mCRC and may provide important clinical information.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2407Test

الوصول الحر: https://doaj.org/article/4e73136590514ed6a1dfe9d621859fa4Test

المؤلفون: Liyun Fu, Houyao Zhu, Chengyun Zhang, Haibin Ouyang, Steven Li

المصدر: IEEE Access, Vol 9, Pp 21532-21555 (2021)

مصطلحات موضوعية: Design precision, hybrid algorithm, local optimization, new mutation operator, \hbox{self-adaptive} parameters, Electrical engineering. Electronics. Nuclear engineering, TK1-9971

الوصف: Differential evolution (DE) algorithm has some excellent attributes including strong exploration capability. However, it cannot balance the exploitation with exploration ability in the search process. To enhance the performance of the DE algorithm, this paper proposes a new algorithm named hybrid harmony differential evolution algorithm (HHSDE). The key features of HHSDE algorithm are as follows. First, a new mutation operation is developed for improving the efficiency of mutation, in which the New Harmony generation mechanics of the harmony algorithm (HS) is employed. Second, the harmony memory size is updated with the iteration. Third, a self-adaptive parameter adjustment strategy is presented to control scaling factor. Fourth, a new evaluation method is proposed to effectively assess the algorithm convergence performance. Two classical DE algorithms, HS algorithm, improvement Differential evolution algorithm(ISDE) and Hybrid Artificial Bee Colony algorithm with Differential Evolution(HABCDE) have been tested against HHSDE based on 25 benchmark functions of CEC2005 and the results reveal that the proposed algorithm is better than the other algorithms under consideration.

وصف الملف: electronic resource

العلاقة: https://ieeexplore.ieee.org/document/9340322Test/; https://doaj.org/toc/2169-3536Test

الوصول الحر: https://doaj.org/article/c0014cdec7b6432e95c3b1f1165ecf6fTest

المؤلفون: Yoonessi, Leila, Randhawa, Inderpal, Nussbaum, Eliezer, Saharti, Samah, Do, Paul, Chin, Terry, Zwerdling, Ted

المصدر: Journal of Pediatric Hematology/Oncology. 37(7)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Rare Diseases, Pediatric, Prevention, Clinical Research, Hematology, Inflammatory and immune system, Age of Onset, Blood Platelets, Humans, Infant, Male, Mutation, Wiskott-Aldrich Syndrome, Wiskott-Aldrich Syndrome Protein, Wiskott-Aldrich syndrome, new mutation, normal platelet volume, Cardiorespiratory Medicine and Haematology, Oncology & Carcinogenesis, Cardiovascular medicine and haematology

الوصف: Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by an increased incidence of autoimmunity, malignancy, microthrombocytes with thrombocytopenia, eczema, and recurrent infections. In this case report, we present a novel mutation, hemizygous for c.1125_1129delTGGAC mutation in the WAS gene, and a unique clinical presentation. Our patient was initially diagnosed with a milk protein allergy after presenting with a lower gastrointestinal bleed, leukopenia, and thrombocytopenia with normal platelet volume. However, signs of vasculitis and detection of microthrombocytes required additional testing and consideration of WAS. This case report illustrates the importance of retaining a high index of clinical suspicion despite normal platelet volume, as well as adding to the growing number of known mutations associated with WAS.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/07v8483sTest

المؤلفون: Yoonessi, Leila, Randhawa, Inderpal, Nussbaum, Eliezer, Saharti, Samah, Do, Paul, Chin, Terry, Zwerdling, Ted

المصدر: Journal of pediatric hematology/oncology. 37(7)

مصطلحات موضوعية: Blood Platelets, Humans, Wiskott-Aldrich Syndrome, Age of Onset, Mutation, Infant, Male, Wiskott-Aldrich Syndrome Protein, Wiskott-Aldrich syndrome, new mutation, normal platelet volume, Oncology & Carcinogenesis, Cardiorespiratory Medicine and Haematology

الوصف: Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by an increased incidence of autoimmunity, malignancy, microthrombocytes with thrombocytopenia, eczema, and recurrent infections. In this case report, we present a novel mutation, hemizygous for c.1125_1129delTGGAC mutation in the WAS gene, and a unique clinical presentation. Our patient was initially diagnosed with a milk protein allergy after presenting with a lower gastrointestinal bleed, leukopenia, and thrombocytopenia with normal platelet volume. However, signs of vasculitis and detection of microthrombocytes required additional testing and consideration of WAS. This case report illustrates the importance of retaining a high index of clinical suspicion despite normal platelet volume, as well as adding to the growing number of known mutations associated with WAS.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/07v8483sTest