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4,511 Possible Causes for Blood, HD, Molecular, Tissue, by, gene, genetics, IN, method, mutation, or, panel

  • Diazoxide

    Compared with normal pancreas, basal insulin secretion was elevated in both FoCHI and DiCHI tissue.[ncbi.nlm.nih.gov] K(ATP) channel mutations were most common (15%) followed by GLUD1 mutations causing hyperinsulinism with hyperammonemia (5.9%), and HNF4A mutations (5%).[ncbi.nlm.nih.gov] Objective and hypotheses: To describe the clinical, biochemical and genetics aspects of a cohort of CHI patients with no genetic aetiology identified and their duration of[abstracts.eurospe.org] RESEARCH DESIGN AND METHODS: A total of 44 patients who have been hospitalized to our hospital and used diazoxide as a trial after diagnosis of CHI were chosen as research[ncbi.nlm.nih.gov] The protective effects of preconditioning with diazoxide were attenuated by 5-hydroxydecanoic acid (5-HD), a selective mitoK(ATP) channel antagonist.[ncbi.nlm.nih.gov] All patients with a focal form were associated with a single K(ATP) channel molecular event.[ncbi.nlm.nih.gov] Please note: Any gene in the Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism Panel can also be ordered individually.[dnatesting.uchicago.edu] (IL)-6, IL-10 and tumour necrosis factor (TNF)-alpha in placental tissue and peripheral blood mononuclear cells (PBMCs) in normal pregnancy.[ncbi.nlm.nih.gov] MATERIAL AND METHODS: Eight obese (age 53 /- 1 yr: BMI 33 /- 2 kg/m2: 4 females) type 2 diabetic patients with poor metabolic control (HbA1c 8.7 /- 0.9% ref.[ncbi.nlm.nih.gov] Furthermore, the sulfonylurea receptor 1 (SUR1) S1369A diabetes risk variant increases MgATPase activity, but the molecular mechanisms remain to be determined.[ncbi.nlm.nih.gov]

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  • Soft Tissue Sarcoma

    Soft tissue sarcoma is rare cancer that affects the soft tissues that support, surround, and connect organs and body structures.[symptoma.com] Abstract Hereditary non-polyposis colorectal cancer (HNPCC) is a genetic disorder caused by mutation in one of the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS2) which[ncbi.nlm.nih.gov] The optimization is performed using a genetic algorithm.[ncbi.nlm.nih.gov] Prior to the introduction of CT scans, radiography and angiography were the only methods for tumor localization.[ncbi.nlm.nih.gov] BACKGROUND: Intratumoral up-regulation of genes coding for drug transporters and metabolizing enzymes, such as MDR1 and CYP3A4, after chemotherapy are linked to cancer drug[ncbi.nlm.nih.gov] We report a case of superficial soft tissue Ewing sarcoma/PNET as a second cancer in a young patient previously treated for Hodgkin's disease (HD).[ncbi.nlm.nih.gov] This report is novel in that to our knowledge, it is the first complete molecular characterization of an EWSR1-POU5F1 fusion in a soft tissue sarcoma.[ncbi.nlm.nih.gov] A high index of suspicion is necessary to initiate the correct panel of immunohistochemical markers to first confirm the lymphomatous nature of this tumour and to subsequently[ncbi.nlm.nih.gov] During four cycles of induction chemotherapy, peripheral blood stem cells (PBSCs) were harvested.[ncbi.nlm.nih.gov] Histologic Findings (Panels A and B) and Immunologic Findings (Panel C) on Analysis of the Patient's and the Surgeon's Tumors.[nejm.org]

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  • Hay Fever

    Histamine also causes itching and allows fluids to enter the nasal tissue, which results in congestion (stuffiness) and a runny nose.[my.clevelandclinic.org] We confirm that cat exposure enhances the effect of a FLG mutation on the development of eczema and sensitization.[ncbi.nlm.nih.gov] BACKGROUND: The susceptibility to develop hay fever is putatively the result both of genetic and environmental causes.[ncbi.nlm.nih.gov] BACKGROUND: Genetic variants in immune regulator genes have been associated with numerous diseases, including allergies and cancer.[ncbi.nlm.nih.gov] Diseases/complications Virus Diseases/epidemiology Virus Diseases/immunology* Virus Diseases/virology Viruses/immunology Substance Allergens Grant support 001 HD28979-01A1/HD[ncbi.nlm.nih.gov] These initial IgE responses increased in concentration and molecular complexity during the preclinical and clinical process.[ncbi.nlm.nih.gov] METHOD: A panel study was conducted among 31 adult patients sensitized to A artemisiifolia in France and Switzerland.[ncbi.nlm.nih.gov] […] environment information via questionnaire; performed active and passive surveillance for ID; and, evaluated total immunoglobulin E (IgE) and biomarkers of inflammation in dried blood[ncbi.nlm.nih.gov] SfN 2018, we spoke to MaxWell Biosystems about their CMOS based HD-MEA systems for recording and stimulating electrogenic cells in-vitro - MaxOne and MaxTwo.[news-medical.net] A questionnaire was yearly administered and blood samples collected at age 1,2,3,5,6,7,10,13 yr.[ncbi.nlm.nih.gov]

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  • Nontuberculous Mycobacteria

    Obtaining tissue for mycobacterial culture and histopathology aids diagnosis.[ncbi.nlm.nih.gov] Genetic mutations were observed in 74 isolates (10.8%), with all nucleotide substitutions being synonymous.[ncbi.nlm.nih.gov] MeSH terms, Substances MeSH terms Bacterial Proteins/genetics Chaperonin 60/genetics Cross Infection/epidemiology* Cross Infection/microbiology DNA, Bacterial/genetics Hospitals[ncbi.nlm.nih.gov] We compared a standard bacterial lysis protocol with a modified method by measuring NTM DNA extraction by qPCR and NTM detection with bacterial 16S rRNA gene sequencing.[ncbi.nlm.nih.gov] The current study aimed to assess the frequency and diversity of mycobacteria in hospital water of a developing country using a combination of conventional and molecular methods[ncbi.nlm.nih.gov] Leitman A 6 , Malanga E 7 , Marras TK 8 , Olivier KN 9 , Prevots DR 10 , Prieto D 7 , Quittner AL 11 , Skach W 12 , Walsh JW 7 , Winthrop KL 13 ; NTMRC Patient Advisory Panel[ncbi.nlm.nih.gov] Chest computed tomography showed pneumonic consolidation in the right lower lobe, which received a systemic blood supply from the descending aorta in both patients.[ncbi.nlm.nih.gov] In response to infection, we found down-regulation of ciliary genes but upregulation of genes associated with cytokines/chemokines, such as IL-32, and cholesterol biosynthesis[ncbi.nlm.nih.gov] The development of molecular methods has allowed the characterization of new species and the identification of NTM to the precise species and subspecies levels.[ncbi.nlm.nih.gov] NTM bacteremia in heart transplant patients has been traced to the presence of NTM in water reservoirs of instruments employed in operating rooms to heat and cool patient blood[ncbi.nlm.nih.gov]

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  • Adrenal Insufficiency

    Screening for autoantibodies directed against the adrenal tissue.[symptoma.com] The X-linked form is related to mutations in the DAX1 (NROB1) gene.[ncbi.nlm.nih.gov] RESULTS: The genetic mutations associated with several familial causes of adrenal insufficiency have now been identified.[ncbi.nlm.nih.gov] In children older than 2yrs, the signs and diagnostic methods are the same as in the adult.[ncbi.nlm.nih.gov] Abstract Background Individuals with Prader-Willi syndrome (PWS) have hypothalamic dysfunction and may have central adrenal insufficiency (CAI).[ncbi.nlm.nih.gov] CONCLUSIONS: Molecular testing elucidated the etiologies of most biochemically uncharacterized PAI patients.[ncbi.nlm.nih.gov] It was very difficult to confirm that the sarcomatoid carcinomas were derived from the cortex of the adrenal glands, but careful morphological observation and the panel of[ncbi.nlm.nih.gov] Blood and urine tests are taken to measure hormone levels.[healthcommunities.com] Hemodynamically stable patients may undergo more accurate diagnostic methods to confirm or rule out addisonian crisis.[ncbi.nlm.nih.gov] T272P) in NR5A1 gene which had not previously been reported.[ncbi.nlm.nih.gov]

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  • Prion Disease

    Prion diseases are infectious neurodegenerative disorders characterized by accumulations of abnormally folded cellular prion protein in affected tissues.[ncbi.nlm.nih.gov] Prion disease with mutations at codon 188 has been reported in 6 cases, but only 1 had the T188R mutation and it was not pathologically confirmed.[ncbi.nlm.nih.gov] Am J Hum Genet. 2014 Oct 2;95(4):371-82. doi: 10.1016/j.ajhg.2014.09.003.[ncbi.nlm.nih.gov] Methods Mol Biol. 2017;1658:311-346. doi: 10.1007/978-1-4939-7244-9_22.[ncbi.nlm.nih.gov] Abstract Some cases of spongiform encephalopathies are linked to mutations within the prion protein gene (PRNP).[ncbi.nlm.nih.gov] Following the exclusion of HD, this phenotype was labeled Huntington disease-like 1 (HDL1).[ncbi.nlm.nih.gov] STAT panels are not customizable in order to support the accelerated turnaround time. This panel is not customizable at this time.[invitae.com] Two studies describe methods for detecting these misfolded proteins in human blood samples.[the-scientist.com] KEYWORDS: 14-3-3 protein; CSF; RT-QUIC method[ncbi.nlm.nih.gov] To uncover the origin of the protective role of V127 variant, molecular dynamics simulations were performed to explore the influence of G127V mutation on two key processes[ncbi.nlm.nih.gov]

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  • Immunization

    OBJECTIVES: To report a series of five patients who developed systemic lupus erythematosus (SLE) after immunization and review the literature on vaccine-associated connective tissue[ncbi.nlm.nih.gov] None of 100 unselected normal subjects possessed these paternal mutations.[ncbi.nlm.nih.gov] Here, we used a cryopreservation protocol to test the efficiency of genetically attenuated cryopreserved sporozoites for immunization of mice in comparison with freshly isolated[ncbi.nlm.nih.gov] […] and what an efficient genotyping method is for detecting the RHD gene carriers in Korea.[ncbi.nlm.nih.gov] Yet, we still need to learn about regulatory gene functions preserved in the MVA genome, such as the apoptosis inhibitor genes F1L and E3L .[ncbi.nlm.nih.gov] Walgreens provides HD flu shots at all 8,200 locations; however, Veterans interested in the HD vaccine flu shot may incur an out-of-pocket expense and will not be reimbursed[va.gov] Department of International Health, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland. 3 Departments of Pediatrics, Medicine and Pathology, Director, Molecular[ncbi.nlm.nih.gov] […] of a novel immunization curriculum based on the Preferred Cognitive Styles and Decision Making Model (PCSDM) on internal medicine (IM) resident continuity clinic patient panel[ncbi.nlm.nih.gov] Patients certainly need immunizations following CBT, since transplanted cord blood is naive.[ncbi.nlm.nih.gov] Author information 1 Division of Cellular and Gene Therapies, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation and Research, Food and Drug Administration[ncbi.nlm.nih.gov]

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  • Miner

    KEYWORDS: Libby; amphibole; asbestos; ferruginous body; fiber analysis; lung tissue; miner; vermiculite[ncbi.nlm.nih.gov] Abstract A two-mutation carcinogenesis model with clonal expansion of pre-malignant cells is used to describe lung cancer mortality data from studies on French and Czech miners[ncbi.nlm.nih.gov] The main tasks of our study are pathological-anatomical and molecular genetic investigations of 28,975 autopsy cases and the evaluation of mining pollutants in the lungs by[ncbi.nlm.nih.gov] Considered by many to be the only true mixed-methods qualitative data analysis software on the market today, QDA Miner is an easy-to-use qualitative data analysis software[provalisresearch.com] Interestingly the presented approach even resulted in an increased F-score for genes showing already good results in initial gene name normalization.[ncbi.nlm.nih.gov] Thursday, February 7 4:00 PM at HD Woodson HS // Basketball Game : Come cheer on our Mighty Miner Bears![minerelementary.org] To add friends, you have to open the “”Play With Friends”” panel (the happy miner at the top right of the screen).[idleminertycoon.com] This population would have been missed if blood gas analysis were excluded from the evaluation process.[ncbi.nlm.nih.gov] The patient had a haemochromatosis with no family history of liver disease and a normal genetic study.[ncbi.nlm.nih.gov] However, the performance of these methods is limited by undefined mechanism of action (MoA) of drugs and reliance on cohorts of patients rather than personalized predictions[ncbi.nlm.nih.gov]

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  • Congenital Myasthenic Syndrome

    Western blot analysis of muscle and kidney tissue and immunohistochemistry of kidney tissue showed no laminin beta2 expression.[ncbi.nlm.nih.gov] We present four unrelated patients with a homozygous W148X mutation in the COLQ gene.[ncbi.nlm.nih.gov] Clinical interpretation requires a fundamental understanding of clinical genetics and genetic principles.[blueprintgenetics.com] METHOD: The absence of acetylcholinesterase antibodies was demonstrated biochemically.[ncbi.nlm.nih.gov] Mutations in various genes encoding proteins expressed at the neuromuscular junction may cause CMS.[ncbi.nlm.nih.gov] Genome-wide SNP profiles generated from the Illumina HD array for 9 nuclear family members were used to determine genomic inheritance patterns in chromosomal regions encompassing[ncbi.nlm.nih.gov] Molecular Therapy 20: 1384–1392.[els.net] Any gene in the Congenital Myasthenic Syndrome panel can also be ordered individually. Please contact us directly for cost and CPT code information.[dnatesting.uchicago.edu] He responded well to noninvasive nocturnal ventilation, with reversal of symptoms and normalization of blood gases.[ncbi.nlm.nih.gov] […] people talk about myasthenia, they are referring to myasthenia gravis , which is the most common type of myasthenia caused by the body’s immune system attacking healthy tissue[myaware.org]

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  • Osteoporosis

    Bone is living, growing tissue.[niams.nih.gov] BACKGROUND AND OBJECTIVES: Plastin 3 (PLS3) mutations are associated with an X-linked osteoporosis.[ncbi.nlm.nih.gov] The underlying monogenetic bone disease in our case strengthens the possibility of a genetic predisposition at least in some cases of AFF.[ncbi.nlm.nih.gov] METHODS: This study involved 87 RA patients, 48 with OP, and 39 without OP, and 204 non-RA control patients, including those with systemic lupus erythematosus, ankylosing[ncbi.nlm.nih.gov] Gene ontology enrichment analysis and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses were conducted.[ncbi.nlm.nih.gov] Nelson HD, Humphrey LL, Nygren P, Teutsch SM, Allan JD. Postmenopausal hormone replacement therapy: scientific review. JAMA. 2002;288:872-881. Sambrook P, Cooper C.[library.med.utah.edu] […] increase osteoclast formation, and that specific alleles of the TNFα gene are associated with postmenopausal osteoporosis susceptibility in some populations; however, the exact molecular[ncbi.nlm.nih.gov] Am J Med. 1993;94:646-650. [2] NIH Consensus Development Panel on Osteoporosis Prevention, Diagnosis, and Therapy. Osteoporosis prevention, diagnosis, and therapy.[bestpractice.bmj.com] However, a peripheral blood smear showed normochromic anemia with thrombocytopenia.[ncbi.nlm.nih.gov] Wang L, Manson JE, Song Y, Sesso HD. Systematic review: Vitamin D and calcium supplementation in prevention of cardiovascular events.[emedicine.medscape.com]

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