• In patients whose lung adenocarcinomas harbor epidermal growth factor receptor (EGFR) tyrosine kinase domain mutations, acquired resistance to the tyrosine kinase inhibitors (TKI) gefitinib (Iressa) and erlotinib (Tarceva) has been associated with a second-site EGFR mutation, which leads to substitution of methionine for threonine at position 790 (T790M). (aacrjournals.org)
  • We aimed to elucidate the frequency and nature of secondary EGFR mutations in patients with acquired resistance to TKI monotherapy. (aacrjournals.org)
  • Tumor cells from patients with acquired resistance were examined for secondary EGFR kinase domain mutations by molecular analyses. (aacrjournals.org)
  • EGFR tyrosine kinase inhibitors (TKIs) are the established first-line option in patients with EGFR -mutated NSCLC, although resistance inevitably develops in the long run. (memoinoncology.com)
  • A wide variety of genomic alterations has been identified in the context of EGFR TKI resistance [1, 2]. (memoinoncology.com)
  • HER3, which is expressed in 83 % of NSCLC tumors [3], is not known to confer resistance to EGFR TKI therapy in EGFR -mutant disease. (memoinoncology.com)
  • this group included all patients in dose escalation and in dose expansion Cohort 1 (i.e., pretreated patients with adenocarcinoma histology and EGFR mutations) [4]. (memoinoncology.com)
  • HER3-Dxd proved active across diverse EGFR resistance mechanisms, as well as across the spectrum of baseline HER3 expression according to membrane H scores. (memoinoncology.com)
  • Forty of the 57 patients in the efficacy population had detectable EGFR exon 19 deletions or L858R mutations in plasma at baseline. (memoinoncology.com)
  • In patients who have developed disease progression on treatment with the third-generation TKI osimertinib, resistance mutations are most commonly either EGFR-dependent (e.g. (memoinoncology.com)
  • Both agents have shown clinical activity across various EGFR mutations [7-11]. (memoinoncology.com)
  • Based on these observations, 45 chemotherapy-naïve patients with EGFR exon 19 deletions or L858R mutations who had progressed on osimertinib were treated with amivantamab plus lazertinib in the dose-expansion phase of the phase I CHRYSALIS trial. (memoinoncology.com)
  • Lung cancer with epidermal growth factor receptor (EGFR)-activating mutations responds favorably to the EGFR tyrosine kinase inhibitors gefitinib and erlotinib. (aacrjournals.org)
  • However, 25% to 30% of patients with EGFR -activating mutations show intrinsic resistance, and the responders invariably acquire resistance to gefitinib. (aacrjournals.org)
  • Here, we showed that hepatocyte growth factor (HGF), a ligand of MET oncoprotein, induces gefitinib resistance of lung adenocarcinoma cells with EGFR -activating mutations by restoring the phosphatidylinositol 3-kinase/Akt signaling pathway via phosphorylation of MET, but not EGFR or ErbB3. (aacrjournals.org)
  • EGFR G724S mutation in exon 18 has been shown to be resistant to both first- and third-generation epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs). (frontiersin.org)
  • However, we found a rare mutation of EGFR Ex19del/G724S in two patients with lung cancer who demonstrated a favorable response to the combination of afatinib and chemotherapy. (frontiersin.org)
  • Analysis of acquired mutations developed during treatment using afatinib revealed that the emergence of EGFR T790M or ALK fusion was the potential mechanism of afatinib resistance. (frontiersin.org)
  • The most common EGFR mutations (nearly 85%-90%) in NSCLC patients are L858R and exon 19 deletions (Ex19del), which are defined as classical mutations. (frontiersin.org)
  • The remaining 10%-15% of EGFR mutations are non-classical mutations ( 1 ). (frontiersin.org)
  • EGFR G724S mutation in exon 18 is a rare driver mutation, only found in about 0.3%-0.8% of NSCLC patients. (frontiersin.org)
  • the result of next-generation sequencing (NGS) revealed EGFR Ex19del/G724S coexisting with TP53 R158del mutation ( Figure 1D ). (frontiersin.org)
  • Mutations in epidermal growth factor receptor ( EGFR ), KRAS, and anaplastic lymphoma kinase ( ALK ) are mutually exclusive in patients with NSCLC, and the presence of one mutation in lieu of another can influence response to targeted therapy. (medscape.com)
  • [ 4 ] Further investigation demonstrated that the highest response rates to these TKIs were seen in patients with somatic mutations within the EGFR-TK domain, particularly exon 19 deletion, exon 21 L858R, and exon 18 G719X. (medscape.com)
  • In general, activating EGFR mutations are more commonly observed in patients with adenocarcinomas and no prior history of smoking, as well as in females and those of Asian descent. (medscape.com)
  • [ 7 ] researchers identified EGFR mutations in 50.5% of surgically resected lung adenocarcinomas. (medscape.com)
  • [ 8 ] These data support estimates from clinical trial evidence that activating EGFR mutations are seen in approximately 50% of Asians and 10% of non-Asians. (medscape.com)
  • Use of the EGFR-TKIs gefitinib, erlotinib, and afatinib is limited to patients with adenocarcinomas who have known activating EGFR mutations. (medscape.com)
  • As discussed below, activity of the EGFR monoclonal antibody cetuximab seems to be independent of EGFR mutation status. (medscape.com)
  • It is unclear how the presence of an acquired EGFR mutation such as T790M should influence therapeutic decisions. (medscape.com)
  • [ 9 ] Most importantly, patients with KRAS mutations seem to have a poorer prognosis and seem to be resistant to EGFR-TKIs, although the extent to which this might influence treatment selection remains somewhat unclear. (medscape.com)
  • Because EGFR and ALK mutations are mutually exclusive, patients with ALK rearrangements are not thought to benefit from EGFR-targeting TKIs. (medscape.com)
  • A compound known to target EGFR/ErbB2/ErbB4 was identified as having excellent selectivity for T790M mutant EGFR (gatekeeper mutation). (genengnews.com)
  • These patients had acquired EGFR T790M resistance mutation confirmed by tumor tissues or serum. (nih.gov)
  • The co-location of these genes on a small non-recombinogenic segment simplifies their deployment as a gene stack and potentially enhances their resistance durability. (nature.com)
  • tritici ( Pgt ) races over the past two decades 1 , 2 has motivated global efforts to identify effective stem rust (Sr) resistance genes. (nature.com)
  • Consequently, there is an ongoing need to expand resistance resources and to enhance gene stewardship through co-deployment of multiple resitance (R) genes, rather than single genes, to increase resistance durability. (nature.com)
  • Since genetic dissection of genes within alien segments in wheat was not possible due to lack of recombination, the question arose as to whether the apparent durability of such resistances might be due to multiple genes rather than a single gene. (nature.com)
  • However, as there is no current Pgt race known to be virulent to either resistance gene, it was not possible to unambiguously determine whether the recombinant introgression carried a single or both genes. (nature.com)
  • This assay detects mutations in genes of the HIV-1 virus from a sample of a patient's blood using NGS. (fda.gov)
  • They looked at the genes for prions, ordinary brain proteins that take on a misfolded shape in prion disease such as CJD and kuru. (discovermagazine.com)
  • Importantly, all of these genes were previously known to play a role in other cardiac diseases, but not in SIC. (tgen.org)
  • Using CRISPR-Cas9 gene editing, the scientists introduced genetic mutations by cutting DNA in certain locations of the genome and found some of the variants had major effects on the expression of nearby genes and could ultimately cause cancer. (scienceboard.net)
  • Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)
  • This report presents the status of AMR in Africa by analysing the main types of resistance and the underlying genes where possible. (who.int)
  • Mutations in several additional genes have also been found to cause pulmonary arterial hypertension, but they are much less common causes of the disorder than are BMPR2 gene mutations. (medlineplus.gov)
  • Variations in other genes may increase the risk of developing pulmonary arterial hypertension or modify the course of the disease (usually making it more severe). (medlineplus.gov)
  • About 20 percent of these cases are caused by mutations in one of the genes known to be associated with the disease, but most of the time a causative gene mutation has not been identified. (medlineplus.gov)
  • Mutations in these genes result in diverse diseases collectively referred to as the laminopathies. (bmj.com)
  • 2021. "Untangling a Gordian Knot : The Role of a GluCl3 I321T Mutation in Abamectin Resistance in Tetranychus Urticae. (ugent.be)
  • Spontaneous natural mutations produce new traits, such as drought tolerance and disease resistance, which can help the plant to thrive. (cnn.com)
  • Mycobacterium tuberculosis becomes drug resistant through random, spontaneous genetic mutation. (cdc.gov)
  • In many of these people, the mechanism is a spontaneous mutation occurring early in their embryonic life. (msdmanuals.com)
  • A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. (wikipedia.org)
  • December 8, 2022 -- Researchers at the Salk Institute have zeroed in on the mechanisms that activate oncogenes, showing that genetic mutation activity depends on the distance between a particular gene and the sequences that regulate the gene. (scienceboard.net)
  • Genetic mutation found that could shed light on mechanism for disease resistance, lead to new therapies. (constantcontact.com)
  • The Sentosa SQ HIV Genotyping Assay is the first HIV drug resistance assay that uses NGS technology that the FDA has authorized for marketing in the U.S. (fda.gov)
  • The Sentosa SQ HIV-1 Genotyping Assay detects HIV-1 drug resistance mutations in patients taking or about to start antiviral therapy. (fda.gov)
  • The FDA reviewed data from performance studies, which demonstrated a greater than 95% sensitivity and specificity in detecting 342 HIV drug resistant mutations and determined the Sentosa SQ HIV-1 Genotyping Assay provides a reasonable assurance of safety and effectiveness for its intended use. (fda.gov)
  • A QoI-LAMP assay was also developed to detect the G143A mutation in cytochrome b associated with QoI-resistance in C. beticola. (usda.gov)
  • The assay detected the mutation in C. beticola both in vitro and in planta with 100% accuracy. (usda.gov)
  • We also developed a probe-based qPCR assay for detecting a E198A mutation in ß-tubulin associated with benzimidazole-resistance and a probe-based qPCR assay for detection of mutations in cytochrome P450-dependent sterol 14a-demethylase (Cyp51) associated with resistance to sterol demethylation inhibitor (DMI) fungicides. (usda.gov)
  • An interesting new study deals with the effects of the natural mutations in the spike antigen of the SARS-CoV-2, the pathogen that is responsible for the ongoing coronavirus disease pandemic. (news-medical.net)
  • Mutations can have serious clinical implications by increasing kinase catalytic activity or conferring therapeutic resistance. (genengnews.com)
  • The Crews lab isolates and characterizes unique chemicals from marine sponges and microorganisms, searching for compounds with potential therapeutic value in treating human diseases, including cancer. (ucsc.edu)
  • The main method of monitoring antimalarial drug resistance is through therapeutic efficacy testing. (bvsalud.org)
  • Rearranged during transfection (RET), kinase alterations, which include fusions and activating point mutation, lead to overactive RET signaling and uncontrolled cell growth. (medscape.com)
  • Kinases have been the target of extensive research to identify drugs to treat a variety of diseases in which the wild-type kinase or a mutant kinase plays a crucial role. (genengnews.com)
  • Kinase mutations frequently lead to an activated state where the kinase is always active and no longer tightly regulated. (genengnews.com)
  • Considering resistance mutations are also important for kinase inhibitors. (genengnews.com)
  • Small-molecule kinase inhibitors have typically been designed to inhibit wild-type kinases rather than the mutant forms that frequently arise in diseases such as cancer. (genengnews.com)
  • To identify opportunities to repurpose inhibitors against disease-associated mutant kinases, we conducted a large-scale functional screen of 183 known kinase inhibitors against 76 recombinant mutant kinases. (genengnews.com)
  • Covalent inhibitors of Bruton tyrosine kinase (BTK) have transformed the therapy of chronic lymphocytic leukemia (CLL), but continuous therapy has been complicated by the development of resistance. (lu.se)
  • Regardless of their efficacy, the constant use of insecticides has induced insecticide resistance mechanisms, such as knockdown resistance ( kdr ) in mosquitoes. (hindawi.com)
  • [ 5 ] By contrast, the exon 20 T790M mutation is associated with acquired resistance to TKI therapy. (medscape.com)
  • The virus can develop resistance to these existing drugs, known as neuraminidase inhibitors. (stjude.org)
  • Significantly, the emergence of resistance to RO-7 took a similar time course as viral resistance to the current neuraminidase inhibitors. (stjude.org)
  • The team, led by Lawrence Kwong , Ph.D., assistant professor of Translational Molecular Pathology , set out to find resistance mechanisms that arise against a combination of MEK and CDK4 inhibitors to treat melanoma that has a mutation in the NRAS gene. (newswise.com)
  • We are able to say that this mutation started out rare and then rapidly expanded as the MEK/CDK4 inhibitors killed off a large number of non-resistant cells. (newswise.com)
  • The most common resistance mechanism in patients whose disease progresses on covalent BTK inhibitors (BTKis) is a mutation in the BTK 481 cysteine residue to which the inhibitors bind covalently. (lu.se)
  • The dominant CMD2 locus confers resistance to cassava mosaic geminiviruses. (uzh.ch)
  • The mutation causing sickle cell disease confers resistance to malaria. (msdmanuals.com)
  • One group received oral osimertinib (80 mg/day) and the other group received intravenous infusion docetaxel (75 mg/m 2 ) and bevacizumab (7.5 mg/kg) every 21 days until disease progression, unacceptable toxic effects or patient death. (nih.gov)
  • The main grade 3 or 4 toxic effects were diarrhea (2.7%) and interstitial lung disease (1.4%) in the osimertinib group and alopecia (15.3%), anorexia (12.5%), neutropenia (9.7%) and nausea (8.3%) in the docetaxel-bevacizumab group. (nih.gov)
  • Pseudoxanthoma elasticum (PXE) is associated with mutations in the ABCC6 gene, which encodes an ATP-binding cassette transporter protein localized to the mitochondria-associated membrane (MAM). (medscape.com)
  • Thus, the mutant allele encodes a receptor that has a mutation in the putative insulin binding domain. (bmj.com)
  • Recently, MAD has been shown to be caused by a specific mutation (R527H) in LMNA , which encodes lamins A and C. (bmj.com)
  • The mutation, to a gene called PIK3CA, appeared initially to be an acquired resistance variation that arose after treatment. (newswise.com)
  • Whole exome sequencing of the resistant tumor after treatment revealed a mutation to PIK3CA known to promote tumor growth. (newswise.com)
  • By examining seven regions of the biopsy sample using an amplification method developed by co-author David Zhang, Ph.D., assistant professor of Bioengineering at Rice University, the team found PIK3CA mutations in three regions. (newswise.com)
  • The PIK3CA mutation could also be detected by isolating circulating cell-free DNA in the blood after resistance developed, making it a potential target for liquid biopsies that are under development. (newswise.com)
  • Treating mice with an S6 inhibitor re-sensitized them to treatment with the MEK/CDK4 combination, restoring the drugs' ability to shrink the PIK3CA mutation-bearing melanomas. (newswise.com)
  • EXPERIMENTAL DESIGN: Exploratory analyses investigated the relationship between invasive disease-free survival (IDFS) and HER2 protein expression/gene amplification, PIK3CA hotspot mutations, and gene expression of HER2, PD-L1, CD8, predefined immune signatures, and Prediction Analysis of Microarray 50 intrinsic molecular subtypes, classified by Absolute Intrinsic Molecular Subtyping. (bvsalud.org)
  • PIK3CA mutations were not prognostic. (bvsalud.org)
  • Virus-induced gene silencing of MePOLD1 in a CMD-susceptible cassava variety produced a recovery phenotype typical of CMD2-type resistance. (uzh.ch)
  • There is a highly specific genotype-phenotype correlation between the LMNA R527H mutation and MAD. (bmj.com)
  • Our study is the first to measure multiple regions in pre-treatment tumor biopsies at high resolution and then track the resistant mutation over years of treatment through six biopsies," Kwong said. (newswise.com)
  • This finding helps establish that such pre-existing mutations can lurk in a patient's tumor at 10 times the rarity than previously appreciated and still cause rapid drug resistance, raising the possibility that even more rare mutations exist in other patients, below the detection rate of current technology. (newswise.com)
  • Right now, when we detect a resistance mutation after treatment, we often don't know whether it came out of nowhere as a new mutation or was pre-existing but undetected in the original tumor," Kwong said. (newswise.com)
  • Understanding the difference could guide treatment to make it more effective, earlier, Kwong notes, and identifying rare mutations that are geographically isolated on a tumor will require improving our approach to analyzing biopsies. (newswise.com)
  • A 59-year-old woman with stage III malignant melanoma was found to have an NRAS mutation in her tumor. (newswise.com)
  • After an initial partial response of a 39 percent reduction in tumor burden, resistance to the treatment arose swiftly and the disease progressed and spread. (newswise.com)
  • Since the mutation was detected only 16 days after treatment began, Kwong and colleagues decided to re-examine the pretreatment biopsy, which sampled a single region of the tumor and had not found a PI3KCA mutation. (newswise.com)
  • The pre-existing mutation was both rare and geographically dispersed in the tumor, making it hard to detect by sampling a single region. (newswise.com)
  • With research in recent years showing that as many as 40% of anaplastic thyroid cancers harbor BRAF V600E mutations, the door has opened for potential benefits with the combination of the BRAF inhibitor dabrafenib with the MEK-inhibitor drug trametinib. (medscape.com)
  • In this research, the scientists explored if influenza viruses would evolve resistance when exposed to an experimental endonuclease inhibitor called RO-7, a drug similar to others in advanced clinical trial. (stjude.org)
  • A frequent escape route is a mutation to the gatekeeper amino acid that blocks inhibitor binding. (genengnews.com)
  • Genetic variation of MePOLD1, therefore, could represent an important genetic resource for resistance breeding and/or genome editing, and elucidating mechanisms of resistance to geminiviruses. (uzh.ch)
  • Plasma or cerebrospinal fluid samples of these patients were then sequenced after treatment using a 139-lung-cancer-gene capture-based targeted panel (Geneseeq), aiming to comprehensively profile their concurrent mutation statuses and explore the potential resistance mechanisms in G724S-positive patients. (frontiersin.org)
  • Track the emergence and spread of fungal diseases by conducting molecular surveillance and genomic epidemiology. (cdc.gov)
  • The re-emergence of stem rust on wheat in Europe and Africa is reinforcing the ongoing need for durable resistance gene deployment. (nature.com)
  • The recent emergence of resistance to artemisinins and partner drugs in P. falciparum has raised both regional and global concerns, and elimination efforts are invariably prioritized against this parasite to avert spread. (intechopen.com)
  • However, over reliance on fungicides has led to the emergence of fungicide resistance in many C. beticola populations, resulting in multiple epidemics in recent years. (usda.gov)
  • In view of the emergence of was performed by the Malaria Reference Centre from resistance across the GMS and the spread beyond its the National Public Health Laboratory (MRC-NPHL) borders, we carried out an analysis to assess the risk by polymerase chain reaction (PCR) amplification and of importation and secondary spread of ART-R malaria sequencing according to the protocol of Ariey et al. (who.int)
  • In key experiments, the team's structural biologists established how the resistance mutation warped the viral endonuclease molecule to render the drug unable to plug into its target. (stjude.org)
  • Many viral diseases remain significant challenges for society, especially in developing countries, and new treatments are still needed. (ubs.com)
  • The choice of [HA516 trade name] to treat antiretroviral-experienced patients with HIV-1 infection should be based on individual viral resistance testing and/or the treatment history of the patient. (who.int)
  • HA516 trade name] is indicated for the treatment of chronic hepatitis B in adults with: · compensated liver disease and evidence of immune active disease, i.e. active viral replication, persistently elevated serum alanine aminotransferase (ALT) levels and histological evidence of active inflammation and/or fibrosis. (who.int)
  • HA516 trade name] is indicated for the treatment of chronic hepatitis B in adolescents 12 to 18 years of age and weighing at least 35 kg with: · compensated liver disease and evidence of immune active disease, i.e. active viral replication, persistently elevated serum ALT levels and histological evidence of active inflammation and/or fibrosis. (who.int)
  • The Centers for Disease Control and Prevention hold 451 viral isolates derived from several different national collections. (who.int)
  • The patient was homozygous for a point mutation in exon 2 of the insulin receptor gene which results in the substitution of methionine for isoleucine at codon 119. (bmj.com)
  • Genetic analysis of the resistant virus revealed a single mutation in the gene that codes for the endonuclease enzyme. (stjude.org)
  • 17 Homozygosity for a single mutation (R527H) was found in all nine affected individuals, who also shared a common disease haplotype. (bmj.com)
  • Low birthweight is associated with insulin resistance, hypertension, coronary-artery disease, and non-insulin-dependent diabetes (NIDDM). (nih.gov)
  • We propose, however, that genetically determined insulin resistance results in impaired insulin-mediated growth in the fetus as well as insulin resistance in adult life. (nih.gov)
  • Low birthweight, measures of insulin resistance in life, and ultimately glucose intolerance, diabetes, and hypertension could all be phenotypes of the same insulin-resistant genotype. (nih.gov)
  • Monogenic diseases that impair sensing of glucose, lower insulin secretion, or increase insulin resistance are associated with impaired fetal growth. (nih.gov)
  • Polygenic influences resulting in insulin resistance in the normal population are therefore likely to result in lower birthweight. (nih.gov)
  • Abnormal vascular development during fetal life and early childhood, as a result of genetic insulin resistance, could also explain the increased risk of hypertension and vascular disease. (nih.gov)
  • Met) in the insulin receptor gene in five sibs with familial insulin resistance. (bmj.com)
  • Mutations in the insulin receptor gene can cause genetic syndromes such as leprechaunism that are associated with extreme insulin resistance. (bmj.com)
  • All 22 exons of the insulin receptor gene were screened for mutations using denaturing gradient gel electrophoresis. (bmj.com)
  • In spite of a homozygous abnormality of the insulin receptor gene and many of the clinical features of severe insulin resistance, the proband's clinical syndrome was noticeably different from previously described patients with leprechaunism who usually die within the first six months of life. (bmj.com)
  • Met mutation in the insulin receptor gene, and are clinically affected with varying degrees of severity. (bmj.com)
  • Although young PTG heterozygous mice initially demonstrate normal glucose tolerance, progressive glucose intolerance, hyperinsulinemia, and insulin resistance develop with aging. (jci.org)
  • Insulin resistance in older PTG heterozygous mice correlates with a significant increase in muscle triglyceride content, with a corresponding attenuation of insulin receptor signaling. (jci.org)
  • These areas of the world often lack the laboratory infrastructure needed to diagnose fungal diseases, and limited availability of antifungal medications means that some patients may not have access to lifesaving treatments. (cdc.gov)
  • After a median follow-up of 11.0 months, the ORR was 36 %, and 64 % of patients showed clinical benefit (i.e., complete or partial responses plus stable disease ≥ 11 weeks). (memoinoncology.com)
  • [ 19 , 20 , 21 ] Another hypothesis is that ABCC6 secretes a vitamin-K precursor from the liver, supported by the finding that clinical features simulating PXE are seen in rats treated with vitamin-K antagonists and in patients with mutations of gamma-glutamyl carboxylase gene. (medscape.com)
  • Seventy-five percent of G724S-positive patients harbored a concurrent mutation of exon 19 del and insertions ( 2 ). (frontiersin.org)
  • However, a key caveat of DT is that patients eventually develop resistance mutations, leading to disease progression. (medscape.com)
  • [ 9 , 10 ] KRAS G12C accounts for approximately 50% of KRAS mutations in NSCLC, and approximately 14% of patients with NSCLC have a KRAS G12C mutation. (medscape.com)
  • Today's authorization can help health care providers better tailor drug treatment for patients who are beginning antiviral therapy and also for those who have developed resistance to HIV drugs by helping to identify mutations in the HIV-1 virus that can impact the effectiveness of certain drugs. (fda.gov)
  • The researchers exposed cultures of virus-infected cells to the drug to induce resistance mutations to occur - the method mimics the process that can occur in patients during antiviral treatment. (stjude.org)
  • There is early evidence that the mutation is clinically significant, because scientists conducting clinical trials have observed the same mutation in patients undergoing treatment with similar drugs. (stjude.org)
  • The findings can prompt specialists who treat patients with Parkinson's disease to periodically inquire about their patients' sexual life. (asianage.com)
  • We have identified a series of rare genetic changes associated with this disease that may be used for early identification of patients at risk. (tgen.org)
  • We propose that SIC is an example of a hidden heart disease with a distinct physiological trigger, and suggest that alternative clinical approaches to these patients may be warranted," said Yashar Kalani, M.D. and Ph.D., a chief resident in Neurological Surgery, assistant professor at Barrow at Dignity Health St. Joseph's Hospital and Medical Center, and the study's lead author. (tgen.org)
  • PURPOSE: In KATHERINE, adjuvant T-DM1 reduced risk of disease recurrence or death by 50% compared with trastuzumab in patients with residual invasive breast cancer after neoadjuvant therapy (NAT) comprised of HER2-targeted therapy and chemotherapy. (bvsalud.org)
  • Pirtobrutinib is a highly selective, noncovalent BTKi with substantial clinical activity in patients whose disease has progressed on covalent BTKi, regardless of BTK mutation status. (lu.se)
  • We employed longitudinal whole-exome sequencing on 2 patients whose disease progressed on pirtobrutinib and identified selection of alternative-site BTK mutations, providing clinical evidence that secondary BTK mutations lead to resistance to noncovalent BTKis. (lu.se)
  • There compare the susceptibility of H. pylori is evidence that most metronidazole-resist- isolates from Iranian patients to a range of ant strains have a mutation in the RDXA antimicrobials including furazolidone. (who.int)
  • The patients were diag- resistance is believed to result from clonal nosed with ulcer (9), oesophagitis (18), Bar- selection of resistant variants rather than rett's oesophagus (15) and gastritis (28). (who.int)
  • However, abamectin resistance has been reported for multiple T. urticae populations worldwide, and in several cases was associated with the mutations G314D in GluCl1 and G326E in GluCl3. (ugent.be)
  • Recently, an additional I321T mutation in GluCl3 was identified in several abamectin resistant T. urticae field populations. (ugent.be)
  • Reverse mutations occur which change the mutated sequence back to the original wild type sequence. (wikipedia.org)
  • NRAS mutations occur in 15-20 percent of melanomas, and the MEK/CDK4 combination is often effective initially against these tumors, but resistance arises. (newswise.com)
  • Manel Camps studies the biological consequences of random changes in genetic information (mutations) that occur spontaneously or as a result of environmental insults. (ucsc.edu)
  • Signs and symptoms of pulmonary arterial hypertension occur when increased blood pressure cannot fully overcome the elevated resistance. (medlineplus.gov)
  • When and in what cell type mutations occur can explain certain abnormalities in inheritance patterns. (msdmanuals.com)
  • Sri Lanka has been engaged in a fight against dengue, since the mid-1960s, and the disease has become the most severe health burden of the country at present [ 2 ]. (hindawi.com)
  • Healthcare providers should recognize underlying risk factors for severe disease, optimize immune function, and when appropriate, initiate medical countermeasures (such as tecovirimat and vaccinia immunoglobulin) early to prevent or mitigate severe disease. (cdc.gov)
  • Florida has recorded 50 cases of meningococcal disease so far this year, but the concern is that it's deadly, with a 25% fatality rate and up to 40% in more severe forms, says a health department official. (constantcontact.com)
  • The objective: to induce genetic mutations in the seeds through exposure to cosmic radiation and microgravity, that could help develop resilient crops capable of thriving in the face of the escalating climate crisis. (cnn.com)
  • Shoba Sivasankar, head of Plant Breeding and Genetics for the joint FAO and IAEA Center of Nuclear Techniques in Food and Agriculture, explains that scientists are able to artificially induce plant mutations on Earth using gamma rays and X-rays. (cnn.com)
  • Such information is critical because without it, clinicians do not know the molecular marker(s) of resistance, so monitoring resistance in trials is like searching in a darkened room. (stjude.org)
  • One of the main questions in cancer drug resistance is how often it comes from a pre-existing or a completely new mutation" said Gabriele Romano, Ph.D., a postdoctoral fellow in Translational Molecular Pathology and the study's first author. (newswise.com)
  • As full genome bisulfite sequencing failed to uncover an epigenetic mechanism for this loss of resistance, whole genome sequencing and genetic variant analysis was performed and the CMD2 locus was fine-mapped to a 190 kilobase interval. (uzh.ch)
  • The mechanism of action of amantadine in the treatment of Parkinson's disease and drug-induced extrapyramidal reactions is not known. (nih.gov)
  • Centers for Disease Control and Prevention. (cdc.gov)
  • The conclusions, findings, and opinions expressed by authors contributing to this journal do not necessarily reflect the official position of the U.S. Department of Health and Human Services, the Public Health Service, the Centers for Disease Control and Prevention, or the authors' affiliated institutions. (cdc.gov)
  • The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
  • However, according to a recent report from the Centers for Disease Control and Prevention and the World Health Organization, the percentage of people living with HIV around the world that have resistance to some HIV drugs has increased from 11% to 29% since 2001. (fda.gov)
  • Deeper understanding of the pathobiology of non-small cell lung cancer (NSCLC) has led to the development of small molecules that target genetic mutations known to play critical roles in the progression to metastatic disease. (medscape.com)
  • Here, we aim to functionally validate this mutation and determine its phenotypic strength. (ugent.be)
  • Angela Brooks is developing computational and experimental approaches to determine which mutations in cancer cells are functionally important. (ucsc.edu)
  • Driven by increasing political commitment, motivated by recent achievements in malaria control, and urged by the imminent threat of emerging artemisinin resistance, the GMS countries have endorsed a regional malaria elimination plan with a goal of eliminating malaria by 2030. (intechopen.com)
  • The importation of ART-R malaria into Singapore is possible given the close proximity and significant travel volume between Singapore and the GMS countries reporting artemisinin resistance. (who.int)
  • 4 The first cases of artemisinin resistance were importation of emerging diseases including artemisinin- a Ministry of Health, Singapore. (who.int)
  • Mutations in the DNA generally cause the uncontrolled growth of the cells or, later in the disease, the resistance to therapies. (utwente.nl)
  • Gene therapy, for example, uses an attenuated virus to deliver a corrective gene directly into the patient's cells, where it replaces a defective, disease-causing gene. (ubs.com)
  • There was a low rate of treatment-related interstitial lung disease events (5 % in the total population), with none being grade 4/5. (memoinoncology.com)
  • Turns out, antidepressants may increase the risk of death by 20 percent for those with progressive lung disease. (asianage.com)
  • COPD is a progressive lung disease that causes increasing breathlessness. (asianage.com)
  • To that end, we developed LAMP and PCR assays to quickly and easily confirm whether the strains identified in the field are resistant to each of three commonly used fungicides for Cercospora disease management. (usda.gov)
  • Acquired forms of GH insensitivity include the rare GH1 mutation (in which GH inhibiting antibodies develop after a few months of replacement therapy with recombinant GH) and, far more commonly, malnutrition, hepatic disease, renal disease, and diabetes. (medscape.com)
  • Co-first authors Jeremy Jones, Ph.D., of the Department of Infectious Diseases, and Gyanendra Kumar, Ph.D., of the Department of Structural Biology. (stjude.org)
  • Before this study there was limited information on the resistance pattern of this [new] class of drugs," said corresponding author Elena Govorkova, M.D., Ph.D., of the St. Jude Department of Infectious Diseases . (stjude.org)
  • Co-first authors of the paper are Jeremy Jones of the Department of Infectious Diseases and Gyanendra Kumar of the Department of Structural Biology . (stjude.org)
  • It was conducted through the Centers of Excellence for Influenza Research and Surveillance (CEIRS), a program funded by the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health. (stjude.org)
  • Infectious disease" redirects here. (wikipedia.org)
  • For the medical specialty, see Infectious diseases (medical specialty) . (wikipedia.org)
  • For the journal, see Infectious Disease (journal) . (wikipedia.org)
  • [1] An infectious disease , also known as a transmissible disease or communicable disease , is an illness resulting from an infection. (wikipedia.org)
  • Infectious diseases resulted in 9.2 million deaths in 2013 (about 17% of all deaths). (wikipedia.org)
  • [4] The branch of medicine that focuses on infections is referred to as infectious diseases . (wikipedia.org)
  • In certain cases, infectious diseases may be asymptomatic for much or even all of their course in a given host. (wikipedia.org)
  • An infection is not synonymous with an infectious disease, as some infections do not cause illness in a host. (wikipedia.org)
  • In this blog, we highlight several aspects of the infectious disease market from the perspective of an investor in biopharma companies. (ubs.com)
  • Virology is part of the broader infectious disease category, which also includes bacterial and fungal infections. (ubs.com)
  • Pharma and biotech companies supply treatments and vaccines for a number of infectious diseases. (ubs.com)
  • In the broader infectious disease category, we see antimicrobial resistance (AMR) as a particular challenge not just for the healthcare industry but for society more broadly. (ubs.com)
  • Pulmonary arterial hypertension is also a rare complication of certain infectious diseases, including HIV and schistosomiasis. (medlineplus.gov)
  • The Journal of infectious diseases. (cdc.gov)
  • Clinical infectious diseases : an official publication of the Infectious Diseases Society of America. (cdc.gov)
  • Centre for Infectious Diseases, and the International Air Transport Association. (who.int)
  • National Public Health Laboratory, National Centre for Infectious Diseases, Singapore. (who.int)
  • Growing resistance to current antibiotics has led one influential report (Review on Antimicrobial Resistance, 2016) to estimate that if the issue of AMR is not addressed, it could lead to 10 million deaths annually by 2050. (ubs.com)
  • Antimicrobial resistance (AMR) remains an alarming public health threat worldwide. (who.int)
  • However, they also asserted that Additional studies are needed to confirm the study's findings in men and to explore whether such a relationship occurs in women with Parkinson's disease. (asianage.com)
  • Pulmonary hypertension occurs when most of the very small arteries throughout the lungs narrow in diameter, which increases the resistance to blood flow through the lungs. (medlineplus.gov)
  • Drug resistance is a common challenge when designing therapeutics for cancers or diseases originating from bacteria or viruses. (scienceboard.net)
  • One in eight women in the United States will develop breast cancer in her lifetime, yet only about 15 percent of these cancers have been linked to inherited gene mutations. (ucsc.edu)
  • Her lab focuses on mutations that cause changes in gene expression by affecting a process called alternative splicing of RNA. (ucsc.edu)
  • PHOENIX, Ariz. - Nov. 30, 2015 - Researchers at the Translational Genomics Research Institute (TGen) and Barrow Neurological Institute have for the first time identified genetic risk factors that are linked to stress-induced cardiomyopathy (SIC), a rare type of heart disease. (tgen.org)
  • Researchers analyzed a series of biopsies taken before and during treatment to ferret out the pre-existing mutation and then developed a potential way to target its troublesome abilities. (newswise.com)
  • Researchers suggest that a mutation in this gene promotes cell division or prevents cell death, resulting in an overgrowth of cells in small arteries throughout the lungs. (medlineplus.gov)
  • Damage to the colon mucus barrier, the first line of defense against microorganisms, is an important determinant of intestinal diseases such as inflammatory bowel disease and colorectal cancer, and disorder in extraintestinal organs. (bvsalud.org)
  • The report also includes a summary on the status of drug resistance for TB, HIV and malaria. (who.int)
  • This resistance conferred a survival advantage in areas where malaria was endemic and often fatal. (msdmanuals.com)
  • TB and malaria drug resistance. (bvsalud.org)
  • Following widespread resistance to chloroquine and sulphadoxine-pyrimethamine all malaria-endemic countries except two in the Region have changed the treatment policy to artemisinin-based combination therapy (ACT). (bvsalud.org)
  • 5 Since then, artemisinin against malaria since 2010, growing resistance to resistance has been observed in other countries in antimalarial drugs remains the biggest challenge the GMS and in neighbouring India. (who.int)
  • Help prepare healthcare facilities and laboratories in other countries to better detect and treat fungal diseases. (cdc.gov)
  • Today, the U.S. Food and Drug Administration authorized marketing of a test to detect human immunodeficiency virus (HIV) Type-1 drug resistance mutations using next generation sequencing (NGS) technology. (fda.gov)
  • For example, this condition is occasionally found in people with systemic scleroderma , systemic lupus erythematosus , critical congenital heart disease , or Down syndrome . (medlineplus.gov)
  • This offsets the effect of the original mutation by creating a secondary mutation, shifting the sequence to allow for the correct amino acids to be read. (wikipedia.org)
  • Scientists at St. Jude Children's Research Hospital have identified a mutation that would enable the influenza virus to become resistant to a promising new class of drugs. (stjude.org)
  • Somewhat encouragingly from a patient treatment standpoint, the resistant virus appears to be slightly less able to replicate, which might mean it would be less able to cause disease and spread than the sensitive version. (stjude.org)
  • They also identified several compounds with activity against the T641I imatinib-resistant mutation of PDGFRα. (genengnews.com)
  • However, resistance zole-resistant strains of H. pylori . (who.int)
  • It has been reported that CMD2-type landraces lose resistance after regeneration through de novo morphogenesis. (uzh.ch)
  • have no family history of dwarfism and thus represent new (de novo) mutations. (msdmanuals.com)
  • CONCLUSIONS: T-DM1 appears to overcome HER2 resistance. (bvsalud.org)
  • However, an error in reading this communication can cause protein function to be incorrect and eventually cause disease even as the cell incorporates a variety of corrective measures. (wikipedia.org)
  • Foot-and-mouth disease virus (FMDV) nonstructural protein 3A plays important roles in virus replication, virulence, and host range. (asm.org)
  • Mutational analysis of the lamin A/C gene revealed homozygosity for the identical R527H mutation as reported previously, but with a distinct haplotype. (bmj.com)
  • However, afatinib combined with chemotherapy for the treatment of Ex19del/G724S mutations has not been reported. (frontiersin.org)
  • He also studies the contribution of mutations to resistance to chemotherapy. (ucsc.edu)