Search results for "hereditary"
showing 10 items of 650 documents
International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by …
2012
Background There are a limited number of publications on the management of gynecologic/obstetric events in female patients with hereditary angioedema caused by C1 inhibitor deficiency (HAE-C1-INH). Objective We sought to elaborate guidelines for optimizing the management of gynecologic/obstetric events in female patients with HAE-C1-INH. Methods A roundtable discussion took place at the 6th C1 Inhibitor Deficiency Workshop (May 2009, Budapest, Hungary). A review of related literature in English was performed. Results Contraception : Estrogens should be avoided. Barrier methods, intrauterine devices, and progestins can be used. Pregnancy : Attenuated androgens are contraindicated and should …
A fractional-order model for aging materials: An application to concrete
2018
Abstract In this paper, the hereditariness of aging materials is modeled within the framework of fractional calculus of variable order. A relevant application is made for the long-term behavior of concrete, for which the creep function is evaluated with the aid of Model B3. The corresponding relaxation function is derived through the Volterra iterated kernels and a comparison with the numerically-obtained relaxation function of Model B3 is also reported. The proposed fractional hereditary aging model (FHAM) for concretes leads to a relaxation function that fully agrees with the well-established Model B3. Furthermore, the FHAM takes full advantage of the formalism of fractional-order calculu…
Early and late clinical landmarks of corneal dystrophies
2020
Abstract Corneal dystrophies (CDs) represent a heterogenous group of genetic diseases (Lisch and Weiss, 2019). The International Committee of Classification of Corneal Dystrophies (IC3D) distinguishes between 22 distinct forms of corneal dystrophy (CD) which are predominantly autosomal dominant, although autosomal recessive and X-chromosomal dominant and recessive patterns do exist. A detailed corneal examination of as many affected family members as possible can show the phenotypic differences of the various generations. There are few publications which describe the different CDs with regard to the early and late phenotypes. According to early and late phenotype, three types of CD are gene…
The Corneal Dystrophies—Does the Literature Clarify or Confuse?
2018
Nuclear Translocation of Mismatch Repair Proteins MSH2 and MSH6 as a Response of Cells to Alkylating Agents
2000
Mammalian mismatch repair has been implicated in mismatch correction, the prevention of mutagenesis and cancer, and the induction of genotoxicity and apoptosis. Here, we show that treatment of cells specifically with agents inducing O(6)-methylguanine in DNA, such as N-methyl-N'-nitro-N-nitrosoguanidine and N-methyl-N-nitrosourea, elevates the level of MSH2 and MSH6 and increases GT mismatch binding activity in the nucleus. This inducible response occurs immediately after alkylation, is long-lasting and dose-dependent, and results from translocation of the preformed MutSalpha complex (composed of MSH2 and MSH6) from the cytoplasm into the nucleus. It is not caused by an increase in MSH2 gen…
Metabolic and Functional Genomic Studies Identify Deoxythymidylate Kinase as a target in LKB1 Mutant Lung Cancer
2013
Abstract The LKB1/STK11 tumor suppressor encodes a serine/threonine kinase, which coordinates cell growth, polarity, motility, and metabolism. In non–small cell lung carcinoma, LKB1 is somatically inactivated in 25% to 30% of cases, often concurrently with activating KRAS mutations. Here, we used an integrative approach to define novel therapeutic targets in KRAS-driven LKB1-mutant lung cancers. High-throughput RNA interference screens in lung cancer cell lines from genetically engineered mouse models driven by activated KRAS with or without coincident Lkb1 deletion led to the identification of Dtymk, encoding deoxythymidylate kinase (DTYMK), which catalyzes dTTP biosynthesis, as synthetica…
Danazol-induced hepatocellular adenoma in patients with hereditary angio-oedema
2002
Side Effects Of Long-Term Treatment With Danazol And Stanozolol In Hereditary Angioedema
2007
Long-term efficacy of danazol treatment in hereditary angioedema
2010
Background No systematic study has been published yet on the long-term efficacy of attenuated androgens in hereditary angioedema (HAE). Our aim was to conduct a follow-up study in two (German and Hungarian) cohorts of HAE patients (45 and 39 patients, respectively) undergoing uninterrupted treatment for 6 years with similar (starting dose 128 ± 78 mg per day and 136 ± 70 mg per day, respectively) and constant doses of danazol. Design The frequencies of subcutaneous, abdominal and laryngeal attacks were recorded each year. Results The annual frequency of all the three types of attacks was significantly lower during the first year of danazol treatment, compared to the last year before baselin…