2024
Practical guidance for the early recognition and follow-up of patients with connective tissue disease-related interstitial lung disease
Guiot J, Miedema J, Cordeiro A, De Vries-Bouwstra J, Dimitroulas T, Søndergaard K, Tzouvelekis A, Smith V. Practical guidance for the early recognition and follow-up of patients with connective tissue disease-related interstitial lung disease. Autoimmunity Reviews 2024, 23: 103582. PMID: 39074630, DOI: 10.1016/j.autrev.2024.103582.Peer-Reviewed Original ResearchInterstitial lung diseaseConnective tissue diseaseConnective tissue disease-related interstitial lung diseaseLung diseaseTissue diseaseCTD-ILDJourney of patientsProgression of interstitial lung diseaseManagement of CTD-ILDComplication of connective tissue diseasesFollow-up of patientsIdentification of interstitial lung diseaseHeterogeneous group of diseasesDisease activity of patientsActivity of patientsPulmonary function testsInternational expert panelGroup of diseasesMultidisciplinary teamExpert panelProgressive diseaseChest radiographyDisease activityClinical examinationFollow-upChapter 30 The emerging genetic landscape of renal cell carcinoma
Lee G, Shinder B, Sadimin E, Stephenson R, Singer E. Chapter 30 The emerging genetic landscape of renal cell carcinoma. 2024, 447-460. DOI: 10.1016/b978-0-12-822824-1.00035-3.ChaptersRenal cell carcinomaCell carcinomaOrgan-confined renal cell carcinomaKidney cancerMetastatic renal cell carcinomaLong-term survival outcomesLandscape of renal cell carcinomaDiagnosis of kidney cancerRenal tubule epithelial cellsTubule epithelial cellsGroup of diseasesSurgical resectionSystemic therapyDistant metastasisSurvival outcomesDiagnosed patientsEpithelial cellsPatientsPatient deathGenetic landscapeCarcinomaDiseaseCancerResectionMetastasis
2023
Chapter 8 Familial hyperaldosteronism
Pappachan J, Fernandez C, Geller D. Chapter 8 Familial hyperaldosteronism. 2023, 105-112. DOI: 10.1016/b978-0-323-96120-2.00016-9.ChaptersPrimary aldosteronismFamilial hyperaldosteronismMonogenic hypertensionOral glucocorticoid therapyGlucocorticoid-remediable aldosteronismRare autosomal dominant disorderGroup of diseasesSporadic primary aldosteronismAutosomal dominant disorderFH-IIIFH-IVGlucocorticoid therapyPathobiological aspectsDiagnostic evaluationRare disorderHyperaldosteronismFamilial formsBiochemical testingDominant disorderFH-IICommon formAldosteronismHypertensionDisordersVariable penetrance
2022
Neuromuscular disorders: finding the missing genetic diagnoses
Koczwara KE, Lake NJ, DeSimone AM, Lek M. Neuromuscular disorders: finding the missing genetic diagnoses. Trends In Genetics 2022, 38: 956-971. PMID: 35908999, DOI: 10.1016/j.tig.2022.07.001.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsHigh-throughput functional screeningDiscovery of hundredsGenetic diagnosisNMD genesNext-generation sequencingFunctional screeningSequencing technologiesPathogenic variantsNeuromuscular disordersGroup of diseasesGenesSequencingFuture approachesLarge numberRecent advancementsDiscoveryVariantsYield
2006
Clinical Cancer Advances 2006: Major Research Advances in Cancer Treatment, Prevention, and Screening—A Report From the American Society of Clinical Oncology
Ozols RF, Herbst RS, Colson YL, Gralow J, Bonner J, Curran WJ, Eisenberg BL, Ganz PA, Kramer BS, Kris MG, Markman M, Mayer RJ, Raghavan D, Reaman GH, Sawaya R, Schilsky RL, Schuchter LM, Sweetenham JW, Vahdat LT, Winn RJ. Clinical Cancer Advances 2006: Major Research Advances in Cancer Treatment, Prevention, and Screening—A Report From the American Society of Clinical Oncology. Journal Of Clinical Oncology 2006, 25: 146-162. PMID: 17158528, DOI: 10.1200/jco.2006.09.7030.Peer-Reviewed Original ResearchConceptsHuman papillomavirusClinical OncologyHER-2 positive breast cancerCancer researchCancer treatmentScreening—A ReportHalf of menChronic myelogenous leukemiaAmerican SocietyClinical cancer researchCertain common cancersGroup of diseasesBasic science discoveriesASCO recommendationsUseful therapyCervical cancerPreventive vaccineCancer careCancer deathCancer patientsCommon cancerNeck cancerClinical trialsBreast cancerGlobal burden
1998
Abnormal Transglutaminase 1 Expression Pattern in a Subset of Patients with Erythrodermic Autosomal Recessive Ichthyosis
Choate K, Khavari P, Williams M. Abnormal Transglutaminase 1 Expression Pattern in a Subset of Patients with Erythrodermic Autosomal Recessive Ichthyosis. Journal Of Investigative Dermatology 1998, 110: 8-12. PMID: 9424079, DOI: 10.1046/j.1523-1747.1998.00070.x.Peer-Reviewed Original ResearchConceptsCongenital ichthyosiform erythrodermaCIE patientsAutosomal recessive ichthyosisRecessive ichthyosisInternal organ involvementSubset of patientsLamellar ichthyosisImmune-deficient miceNonbullous congenital ichthyosiform erythrodermaAbnormal intracellular accumulationClassic lamellar ichthyosisGroup of diseasesErythrodermic psoriasisOrgan involvementAtopic dermatitisClinical featuresDeficient miceMinimal erythemaPatientsSkin disordersNetherton syndromeSpecific abnormalitiesAbnormal cornificationSkin rednessIchthyosiform erythroderma
1984
25 THERAPEUTIC RESEARCH IN THE NATIONAL CANCER INSTITUTE
DeVita V, Goidin A. 25 THERAPEUTIC RESEARCH IN THE NATIONAL CANCER INSTITUTE. 1984, 499-526. DOI: 10.1016/b978-0-12-667980-9.50032-4.Peer-Reviewed Original ResearchCombination of drugsTypes of tumorsNational Cancer InstituteGroup of diseasesDosage scheduleCancer therapistClinical oncologistsCancer InstituteExperimental animalsBeneficial effectsTherapeutic researchTumorsDrugsTreatmentSignificant numberField of medicineRemissionChemotherapyPatientsSurgeryOncologistsRadiotherapyCancerDiseasePhysicians
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