Search results for "cystic"

showing 10 items of 461 documents

Pharmacophore-Based Design of New Chemical Scaffolds as Translational Readthrough-Inducing Drugs (TRIDs)

2020

[Image: see text] Translational readthrough-inducing drugs (TRIDs) rescue the functional full-length protein expression in genetic diseases, such as cystic fibrosis, caused by premature termination codons (PTCs). Small molecules have been developed as TRIDs to trick the ribosomal machinery during recognition of the PTC. Herein we report a computational study to identify new TRID scaffolds. A pharmacophore approach was carried out on compounds that showed readthrough activity. The pharmacophore model applied to screen different libraries containing more than 87000 compounds identified four hit-compounds presenting scaffolds with diversity from the oxadiazole lead. These compounds have been s…

010405 organic chemistryChemistryOrganic ChemistryTranslational readthroughNonsense mutationHTVSnonsense mutationOxadiazoleBenzoxazoleRibosomal RNA01 natural sciencesBiochemistrySmall molecule0104 chemical sciencescystic fibrosis010404 medicinal & biomolecular chemistrychemistry.chemical_compoundBiochemistryDrug Discoverypremature termination codonsPharmacophoreDerivative (chemistry)Pharmacophore modeling
researchProduct

Dysregulated genes and their functional pathways in luteinized granulosa cells from PCOS patients after cabergoline treatment

2018

Polycystic ovarian syndrome (PCOS) is a common reproductive disorder frequently associated with a substantial risk factor for ovarian hyperstimulation syndrome (OHSS). Dopamine receptor 2 (D2) agonists, like cabergoline (Cb2), have been used to reduce the OHSS risk. However, lutein granulosa cells (LGCs) from PCOS patients treated with Cb2 still show a deregulated dopaminergic tone (decreased D2 expression and low dopamine production) and increased vascularization compared to non-PCOS LGCs. Therefore, to understand the PCOS ovarian physiology, it is important to explore the mechanisms that underlie syndrome based on the therapeutic effects of Cb2. Here, LGCs from non-PCOS and PCOS patients …

0301 basic medicineAdultEmbryologymedicine.medical_specialtyendocrine systemCabergolineendocrine system diseasesOvarian hyperstimulation syndromeAKT103 medical and health scienceschemistry.chemical_compound0302 clinical medicineEndocrinologyInternal medicineCabergolineLuteal CellsmedicineHumansErgolines030219 obstetrics & reproductive medicineGranulosa Cellsbusiness.industryDopaminergicOvaryObstetrics and Gynecologynutritional and metabolic diseasesCell Biologymedicine.diseasefemale genital diseases and pregnancy complicationsVascular endothelial growth factorVascular endothelial growth factor A030104 developmental biologyEndocrinologyReproductive MedicinechemistryGene Expression RegulationDopamine receptorDopaminergic synapseCase-Control StudiesDopamine AgonistsFemalebusinessTranscriptomeBiomarkersmedicine.drugPolycystic Ovary Syndrome
researchProduct

Systemic redox biomarkers and their relationship to prognostic risk markers in autosomal dominant polycystic kidney disease and IgA nephropathy.

2017

Abstract Background Oxidative stress is evident from an early stage in chronic kidney disease (CKD). Therefore, we investigated redox biomarkers in polycystic kidney disease (ADPKD) and IgA nephropathy (IGAN). Methods This is a case-control study with three groups: ADPKD (n = 54), IGAN (n = 58) and healthy controls (n = 86). The major plasma aminothiols with their redox species were examined: homocysteine (Hcy), cysteinglycine (CG), cysteine (Cys) and glutathione (GSH). The redox ratio was the ratio of reduced free and oxidized aminothiols in plasma. We investigated malonedialdehyde (MDA) and advanced oxidation protein products (AOPP), and ten single nucleotide polymorphisms of antioxidant …

0301 basic medicineAdultMaleRiskmedicine.medical_specialtyHomocysteineClinical Biochemistry030232 urology & nephrologyAutosomal dominant polycystic kidney diseaseurologic and male genital diseasesmedicine.disease_causePolymorphism Single NucleotideNephropathy03 medical and health scienceschemistry.chemical_compound0302 clinical medicineInternal medicinePolycystic kidney diseaseMedicineHumansHomocysteineGenetic Association StudiesProteinuriabusiness.industrySuperoxide DismutaseGlomerulonephritis IGAGeneral MedicineDipeptidesMiddle Agedmedicine.diseasePolycystic Kidney Autosomal DominantPrognosisOxidative Stress030104 developmental biologyEndocrinologychemistryAdvanced Oxidation Protein ProductsCase-Control StudiesDisease ProgressionFemaleGene polymorphismLipid Peroxidationmedicine.symptombusinessOxidoreductasesOxidation-ReductionOxidative stressBiomarkersKidney diseaseClinical biochemistry
researchProduct

Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.

2016

Background Non-classic congenital hyperplasia (NCAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder characterized by androgen excess. Objective and rationale We conducted a systematic review and critical assessment of the available evidence pertaining to the epidemiology, pathophysiology, diagnosis and management of NCAH. A meta-analysis of epidemiological data was also performed. Search methods Peer-reviewed studies evaluating NCAH published up to October 2016 were reviewed. Multiple databases were searched including MEDLINE, EMBASE, Cochrane, ERIC, EBSCO, dissertation abstracts, and current contents. Outcomes The worldwide prevalence of NCAH amongst women presen…

0301 basic medicineAdultmedicine.medical_specialtyPediatricsHirsutismAdolescentGenetic counseling030209 endocrinology & metabolismDiseaseMiscarriage03 medical and health sciences0302 clinical medicinemedicineHumansCongenital adrenal hyperplasiahirsutismMenstruation DisturbancesGynecologyPregnancyAdrenal Hyperplasia Congenitalbusiness.industry17-alpha-HydroxyprogesteroneHyperandrogenismObstetrics and GynecologyAndrogen Antagonistsmedicine.diseasePolycystic ovary030104 developmental biologyReproductive MedicineFemalebusinessInfertility FemaleHuman reproduction update
researchProduct

Mechanisms of action of metformin in type 2 diabetes: Effects on mitochondria and leukocyte-endothelium interactions.

2020

Type 2 diabetes (T2D) is a very prevalent, multisystemic, chronic metabolic disorder closely related to atherosclerosis and cardiovascular diseases. It is characterised by mitochondrial dysfunction and the presence of oxidative stress. Metformin is one of the safest and most effective anti-hyperglycaemic agents currently employed as first-line oral therapy for T2D. It has demonstrated additional beneficial effects, unrelated to its hypoglycaemic action, on weight loss and several diseases, such as cancer, cardiovascular disorders and metabolic diseases, including thyroid diseases. Despite the vast clinical experience gained over several decades of use, the mechanism of action of metformin i…

0301 basic medicineAdvanced glycation end product (AGE)AMP-activated protein kinase (AMPK)endocrine system diseasesglycerol 3-phosphate dehydrogenase (GPD)Clinical Biochemistrytype 1 diabetes (T1D)Type 2 diabetesmTORC1Review Articleelectron transport chain (ETC)PharmacologyMitochondrionmedicine.disease_causeBiochemistry0302 clinical medicineLeukocytesCREB-binding protein (CBP)inner mitochondrial membrane (IMM)lcsh:QH301-705.5lcsh:R5-920cAMP response element-binding (CREB)glucagon-like peptide 1 (GLP-1)type 2 diabetes (T2D)Type 2 diabetesMetforminMetforminMitochondriamedicine.anatomical_structurereactive nitrogen species (RNS)reactive oxygen species (ROS)sirtuin (SIRT)medicine.symptomlcsh:Medicine (General)cardiovascular diseases (CVD)medicine.drugEndotheliumnitric oxide synthase (NOS)polycystic ovary syndrome (PCOS)Pathophysiologyinsulin resistance (IR)superoxide dismutase (SOD)03 medical and health sciencesglycated haemoglobin (HbA1c)medicineorganic cation transporter (OCT)HumansEndotheliumintercellular adhesion molecule-1 (ICAM-1)business.industryoxidative phosphorylation (OXPHOS)Organic Chemistryperoxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1α)AMPKmedicine.diseaseAtherosclerosisvascular cell adhesion molecule-1 (VCAM-1)Treatment030104 developmental biologylcsh:Biology (General)Mechanism of actionDiabetes Mellitus Type 2Oxidative stressbusinessinsulin receptor substrate (IRS)030217 neurology & neurosurgeryOxidative stress
researchProduct

Different clinical allergological features of Taenia solium infestation

2016

The tapeworm Taenia (T.) solium can be responsible for two different conditions: taeniasis and cysticercosis. Helminth infections in human host cause an immune response associated with elevated levels of IgE, tissue eosinophilia and mastocytosis, and with the presence of CD4+ T cells that preferentially produce IL-4, IL-5, and IL-13. Individuals exposed to helminth infections may have allergic inflammatory responses to parasites and parasite antigens. PubMed search of human cases of allergic reactions occurring during T. solium infestation was performed combining the terms (allergy, urticaria, angioedema, asthma, anaphylaxis) with T. solium. A study was considered eligible for inclusion in …

0301 basic medicineAllergyAllergyUrticaria030231 tropical medicineNeurocysticercosisImmunologyAllergy; Anaphylaxis; Angioedema; Asthma; Cysticercosis; Taenia solium; Urticaria; Immunology and Allergy; Immunology; Molecular Biology03 medical and health sciences0302 clinical medicineAnaphylaxiCysticercosiTaenia soliumTaenia soliumparasitic diseasesMedicineTaeniasisEosinophiliaImmunology and AllergyAngioedemaAnaphylaxisMolecular BiologybiologyCysticercosisbusiness.industryCysticercosisbiology.organism_classificationmedicine.diseaseAsthmamedicine.drug_formulation_ingredient030104 developmental biologyImmunologyTaeniamedicine.symptombusinessAnaphylaxisClinical and Molecular Allergy
researchProduct

Pleomorphic Adenoma and Adenoid-Cystic Carcinoma of the Salivary Glands: Comparative Immunohistochemical Patterns

1987

A series of 20 cases of pleomorphic adenoma and 19 cases of adenoid-cystic carcinoma of the salivary glands, and one case in the mammary location, were investigated regarding immunohistochemical reactivity for Tissue Polypeptid Antigen (TPA), Pre-Keratins, Vimentin, S-100 Protein, and their arrangement pattern of fibronectin. As a whole, the results support the hypothesis of morpho-structural and mainly, onto-histogenetic similarities between these tumours, but they also underline the need for great care in outlining their morpho-functional features, in relation to their different prognoses.

0301 basic medicineCancer ResearchPathologymedicine.medical_specialtyAdenoid cystic carcinomaTissue Polypeptide AntigenClinical BiochemistryAdenoma PleomorphicVimentinProtein SPathology and Forensic MedicinePleomorphic adenoma03 medical and health sciences0302 clinical medicineCarcinomaHumansVimentinMedicineTissue Polypeptide AntigenProtein PrecursorsGlycoproteinsbiologybusiness.industryProteinsmedicine.diseaseCarcinoma Adenoid CysticImmunohistochemistryFibronectinsParotid NeoplasmsFibronectin030104 developmental biologyOncology030220 oncology & carcinogenesisbiology.proteinKeratinsImmunohistochemistryPeptidesbusinessThe International Journal of Biological Markers
researchProduct

Epidemiology of taeniosis/cysticercosis in Europe, a systematic review: eastern Europe

2018

Background Taenia solium and Taenia saginata are food-borne parasites of global importance. In eastern Europe only fragmented information is available on the epidemiology of these zoonotic parasites in humans and animal populations. In particular for T. solium, on-going transmission is suspected. The aim of this systematic review was to collect the available data and describe the current knowledge on the epidemiology of T. solium and T. saginata in eastern Europe. Methods Literature published in international databases from 1990 to 2017 was systematically reviewed. Furthermore, local sources and unpublished data from national databases were retrieved from local eastern European experts. The…

0301 basic medicineEpidemiologyPorcineIMPACT030231 tropical medicineReviewEastern Europe413 Veterinary scienceNeurocysticercosislcsh:Infectious and parasitic diseases03 medical and health sciences6190302 clinical medicineparasitic diseasesTaenia soliumMedicine and Health Scienceslcsh:RC109-216Veterinary SciencesSEROPREVALENCETaenia saginataBovineBOVINE CYSTICERCOSIS030108 mycology & parasitology3142 Public health care science environmental and occupational healthTaenia solium ; Taenia saginata ; Epidemiology ; Bovine ; Porcine ; Neurocysticercosis ; Eastern Europe3. Good healthPREVALENCEInfectious DiseasesParasitology
researchProduct

Introduction

2019

This issue's of Views and Reviews considers the origins of lifetime health established around the time of conception in some prevalent conditions related to infertility. Reviews will look at the effects of advanced paternal and maternal age, the influence of the severe sperm factor, and the impact of some endocrinopathies commonly seen in infertile couples, especially women, like polycystic ovary syndrome, under- and overweight, diabetes, and thyroid disorders. The aim of this Views and Reviews section is to summarize current evidence on the consequences of these conditions on postnatal health to encourage research in this field and the need to develop strategies and preventative measures t…

0301 basic medicineGerontologyInfertility030219 obstetrics & reproductive medicinebusiness.industryOffspringObstetrics and GynecologyOverweightmedicine.diseasePolycystic ovary03 medical and health sciences030104 developmental biology0302 clinical medicineReproductive MedicinemedicineEtiologymedicine.symptombusinessFertility and Sterility
researchProduct

Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia

2020

Abstract Non-classical congenital adrenal hyperplasia (NC-CAH) includes a group of genetic disorders due to a broad class of CYP21A2 variants identifying a disease-causing ‘C’ genotype. The heterozygous carriers of CYP21 mutations are at increased risk of developing clinically evident hyperandrogenism, even though clinical and laboratory characteristics are still underestimated. With the aim of obtaining a more accurate delineation of the phenotype of heterozygous carrier of CAH, we analyzed clinical, biochemical and molecular characteristics in a cohort of Sicilian subjects. Fifty-seven females with biallelic and monoallelic CYP21A2 variants classifying NC-CAH (24) and heterozygous carrier…

0301 basic medicineHirsutismHydrocortisoneendocrine system diseasesEndocrinology Diabetes and MetabolismClinical BiochemistryPhysiologyOverweighturologic and male genital diseasesBiochemistrySettore MED/13 - Endocrinologia0302 clinical medicineEndocrinologySettore BIO/10 - BiochimicaGenotypeMedicineChildhirsutismPolycystic ovaryfemale genital diseases and pregnancy complications030220 oncology & carcinogenesisCohortMolecular MedicineFemalemedicine.symptomAdultHeterozygotecongenital hereditary and neonatal diseases and abnormalitiesAdolescentYoung Adult03 medical and health sciencesHumansCongenital adrenal hyperplasiaMolecular BiologyHeterozygous carrierAdrenal Hyperplasia Congenitalbusiness.industryHyperandrogenismCongenital adrenal hyperplasianutritional and metabolic diseasesHeterozygote advantageCell BiologyOverweightmedicine.diseaseOligomenorrhea17OHProgesterone deficiency030104 developmental biologyMutationSteroid 21-HydroxylaseHyperandrogenismbusinessThe Journal of Steroid Biochemistry and Molecular Biology
researchProduct