scholarly journals Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy

2021 ◽  
Vol 62 (15) ◽  
pp. 4
Author(s):  
Tianchang Tao ◽  
Ningda Xu ◽  
Jiarui Li ◽  
Hongyan Li ◽  
Jinfeng Qu ◽  
...  
Keyword(s):  
Mutation Spectrum ◽  
Familial Exudative Vitreoretinopathy ◽  
Spectrum Of Patients

scholarly journals Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

2010 ◽  
Vol 31 (6) ◽  
pp. 656-666 ◽  
Author(s):  
Konstantinos Nikopoulos ◽  
Hanka Venselaar ◽  
Rob W.J. Collin ◽  
Rosa Riveiro-Alvarez ◽  
F. Nienke Boonstra ◽  
...  
Keyword(s):  
Mutation Spectrum ◽  
Norrie Disease ◽  
Familial Exudative Vitreoretinopathy ◽  
Novel Variants

scholarly journals Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy

2017 ◽  
Vol 58 (13) ◽  
pp. 5949 ◽  
Author(s):  
Miao Tang ◽  
Limei Sun ◽  
Andina Hu ◽  
Miner Yuan ◽  
Yu Yang ◽  
...  
Keyword(s):  
Mutation Spectrum ◽  
Chinese Patients ◽  
Familial Exudative Vitreoretinopathy

Rationale for heparin treatment of colon cancer

2000 ◽  
Vol 20 (03) ◽  
pp. 136-142 ◽  
Author(s):  
D. L. Ornstein ◽  
L. R. Zacharski
Keyword(s):  
Clinical Trials ◽  
Substantial Improvement ◽  
Patients With Cancer ◽  
Coagulation Mechanism ◽  
Anticoagulant Drug ◽  
Cancer Outcome ◽  
Meta Analyses ◽  
Improvement In Survival ◽  
Spectrum Of Patients ◽  
To Receive

SummaryIt is widely known that the systemic blood coagulation mechanism is often activated in malignancy, leading to an increased incidence of vascular thromboses in patients with cancer. It is not widely appreciated, however, that products of the coagulation mechanism may also support tumor growth and dissemination. Interest in this approach to cancer therapy has surged recently because of mounting evidence that the familiar anticoagulant drug, heparin, may impede tumor progression. Heparin has the capacity to modify angiogenesis, growth factor and protease activity, immune function, cell proliferation and gene expression in ways that may block malignant dissemination. Clinical trials in which heparin has been administered to a broad spectrum of patients to prevent or treat thrombosis have unexpectedly shown improvement in survival in the subset of patients with malignancy entered to these studies. Meta-analyses of clinical trials comparing unfractionated (UF) versus low molecular weight (LMW) heparin treating venous thromboembolism suggest that there may be substantial improvement in cancer outcome in patients with malignancy randomized to receive LMW heparin. These findings provide a rationale for definitive clinical trials of LMW heparin in cancer, and the results of several such studies that are currently underway are awaited with interest.

Influence of mature and immature sunflower seed treatment with ethylmethanesulphonate on mutation spectrum and frequency

Helia ◽  
2005 ◽  
Vol 28 (43) ◽  
pp. 87-98 ◽  
Author(s):  
Lyakh V. ◽  
Soroka A. ◽  
Vasiti V.
Keyword(s):  
Sunflower Seed ◽  
Seed Treatment ◽  
Mutation Spectrum

scholarly journals Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype–phenotype analysis

2021 ◽  
pp. bjophthalmol-2021-319084
Author(s):  
Zexu Chen ◽  
Tianhui Chen ◽  
Min Zhang ◽  
Jiahui Chen ◽  
Michael Deng ◽  
...  
Keyword(s):  
Calcium Binding ◽  
Gene Mutations ◽  
Mutation Spectrum ◽  
Missense Mutations ◽  
Ectopia Lentis ◽  
Phenotype Analysis ◽  
Chinese Cohort ◽  
Fibrillin 1 ◽  
Epidermal Growth ◽  
Dependent Probe

AimsTo identify the mutation spectrum and genotype–phenotype correlations of fibrillin-1 (FBN1) mutations in a Chinese cohort with congenital ectopia lentis (EL).MethodsPatients clinically suspected of congenital zonulopathy were screened using panel-based next-generation sequencing followed by multiplex ligation-dependent probe amplification. All the probands were subjected to thorough ocular examinations. Molecular and clinical data were integrated in pursuit of genotype–phenotype correlation.ResultsA total of 131 probands of FBN1 mutations from unrelated families were recruited. Around 65% of the probands were children younger than 9 years old. Overall, 110 distinct FBN1 mutations were identified, including 39 novel ones. The most at-risk regions were exons 13, 2, 6, 15, 24 and 33 in descending order of mutation frequency. The most prevalent mutation was c.184C>T (seven, 5.34%) in the coding sequence and c.5788+5G>A (three, 2.29%) in introns. Missense mutations were the most frequent type (103, 78.63%); half of which were distributed in the N-terminal regions (53, 51.46%). The majority of missense mutations were detected in one of the calcium-binding epidermal growth factor-like domains (62, 60.19%), and 39 (62.90%) of them were substitutions of conserved cysteine residues. Microspherophakia (MSP) was found in 15 patients (11.45%). Mutations in the middle region (exons 22–42), especially exon 26, had higher risks of combined MSP (OR, 5.51 (95% CI 1.364 to 22.274), p=0.017).ConclusionsThis study extended the knowledge of the FBN1 mutation spectrum and provided novel insights into its clinical correlation regarding EL and MSP in the Chinese population.

Mutation and Phenotypic Spectrum of Patients With RASopathies

2020 ◽  
Vol 58 (1) ◽  
pp. 30-33
Author(s):  
Meenakshi Lallar ◽  
Sunita Bijarnia-Mahay ◽  
I. C. Verma ◽  
Kaushik Mandal ◽  
Ratna Dua Puri
Keyword(s):  
Phenotypic Spectrum ◽  
Spectrum Of Patients

Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis

2007 ◽  
Vol 30 (6) ◽  
pp. 989-989 ◽  
Author(s):  
E. Barkaoui ◽  
W. Cherif ◽  
N. Tebib ◽  
C. Charfeddine ◽  
F. Ben Rhouma ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Molecular Diagnosis ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Mutation Spectrum ◽  
Type Ia

scholarly journals The state of PRRT and its sequencing amongst current therapeutic options for gastroenteropancreatic neuroendocrine tumors

2021 ◽  
Author(s):  
Lauren M Raymond ◽  
Tetiana Korzun ◽  
Adel Kardosh ◽  
Kenneth J. Kolbeck ◽  
Rodney Pommier ◽  
...  
Keyword(s):  
Neuroendocrine Tumors ◽  
Standard Dose ◽  
Peptide Receptor Radionuclide Therapy ◽  
Somatostatin Analogues ◽  
Tumor Burden ◽  
Treatment Modalities ◽  
Its Sequencing ◽  
Gastroenteropancreatic Neuroendocrine Tumors ◽  
Reduce Tumor Burden ◽  
Spectrum Of Patients

Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) are the most common form of neuroendocrine neoplasia, but there is no current consensus for the sequencing of approved therapies, particularly with respect to peptide receptor radionuclide therapy (PRRT). This comprehensive review evaluates the data supporting approved therapies for GEP-NETs and recommendations for therapeutic sequencing with a focus on how PRRT currently fits within sequencing algorithms. The current recommendations for PRRT sequencing restrict its use to metastatic, inoperable, progressive midgut NETs, however, this may change with emerging data to suggest PRRT might be beneficial as neoadjuvant therapy for inoperable tumors, is more tolerable than other treatment modalities following first-line standard dose somatostatin analogues, and can be used as salvage therapy after disease relapse following prior successful cycles of PRRT. PRRT has also been shown to reduce tumor burden, improve quality of life, and prolong the time to disease progression in a broad spectrum of patients with GEP-NETs. As the various potential benefits of PRRT in GEP-NET therapy continues to expand, it is necessary to review and critically evaluate our treatment algorithms for GEP-NETs.

scholarly journals Mutation spectrum of copper-induced DNA damage.

1992 ◽  
Vol 267 (19) ◽  
pp. 13778
Author(s):  
L.K. Tkeshelashvili ◽  
T McBride ◽  
K Spence ◽  
L.A. Loeb
Keyword(s):  
Dna Damage ◽  
Mutation Spectrum
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