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1.
Medicina (B.Aires) ; 80(3): 253-270, jun. 2020. ilus, graf, tab
Article in Spanish | LILACS | ID: biblio-1125077

ABSTRACT

Una de cada 4 coronariografías realizadas por isquemia miocárdica presenta lesiones menores al 50% Este dato desencadenó un creciente interés en la comunidad médica. La Sociedad Americana de Cardiología publicó recientemente un artículo que describe la posición consensuada de un grupo de expertos sobre la fisiopatología, el diagnóstico y el tratamiento de esta entidad. Nuestro trabajo refleja una revisión narrativa y la posición de un grupo de expertos pertenecientes a diferentes instituciones con servicios de Cardiología jerarquizados. Aborda aspectos fisiopatológicos y diagnósticos para comprender el enfoque actual del tratamiento, tanto en pacientes que ingresan con diagnóstico de MINOCA (infa rto de miocardio con lesiones angiográficas no graves) o de INOCA (angina e isquemia demostradas, pero sin lesiones coronarias que justifiquen este síndrome).


One in every four coronarographies performed to study myocardial ischemia shows coronary angiographic stenosis less than 50%. This data triggered an increasing interest in the medical community. The American Society of Cardiology recently published a position paper about the pathophysiology, diagnosis and treatment of this entity. Our group performed a narrative review reflecting the opinion of cardiology experts from different centers in Argentina. It aims physiopatologic and diagnostic aspect to understand the current approach in patients with MINOCA (myocardial infarction with non-obstructive coronary arteries) e INOCA (demonstrated angina and ischemia but without coronary lesions that justify this syndrome).


Subject(s)
Humans , Male , Female , Myocardial Ischemia/physiopathology , Myocardial Ischemia/diagnostic imaging , Clinical Decision-Making , Myocardial Infarction/physiopathology , Myocardial Infarction/diagnostic imaging , Prognosis , Magnetic Resonance Imaging/methods , Cineangiography/methods , Tomography, X-Ray Computed/methods , Risk Factors , Coronary Angiography/methods , Coronary Vessels/physiopathology , Coronary Vessels/diagnostic imaging
2.
Medicina (B Aires) ; 80(3): 253-270, 2020.
Article in Spanish | MEDLINE | ID: mdl-32442940

ABSTRACT

One in every four coronarographies performed to study myocardial ischemia shows coronary angiographic stenosis less than 50%. This data triggered an increasing interest in the medical community. The American Society of Cardiology recently published a position paper about the pathophysiology, diagnosis and treatment of this entity. Our group performed a narrative review reflecting the opinion of cardiology experts from different centers in Argentina. It aims physiopatologic and diagnostic aspect to understand the current approach in patients with MINOCA (myocardial infarction with non-obstructive coronary arteries) e INOCA (demonstrated angina and ischemia but without coronary lesions that justify this syndrome).


Una de cada 4 coronariografías realizadas por isquemia miocárdica presenta lesiones menores al 50% Este dato desencadenó un creciente interés en la comunidad médica. La Sociedad Americana de Cardiología publicó recientemente un artículo que describe la posición consensuada de un grupo de expertos sobre la fisiopatología, el diagnóstico y el tratamiento de esta entidad. Nuestro trabajo refleja una revisión narrativa y la posición de un grupo de expertos pertenecientes a diferentes instituciones con servicios de Cardiología jerarquizados. Aborda aspectos fisiopatológicos y diagnósticos para comprender el enfoque actual del tratamiento, tanto en pacientes que ingresan con diagnóstico de MINOCA (infa rto de miocardio con lesiones angiográficas no graves) o de INOCA (angina e isquemia demostradas, pero sin lesiones coronarias que justifiquen este síndrome).


Subject(s)
Clinical Decision-Making , Myocardial Infarction/diagnostic imaging , Myocardial Infarction/physiopathology , Myocardial Ischemia/diagnostic imaging , Myocardial Ischemia/physiopathology , Cineangiography/methods , Coronary Angiography/methods , Coronary Vessels/diagnostic imaging , Coronary Vessels/physiopathology , Female , Humans , Magnetic Resonance Imaging/methods , Male , Prognosis , Risk Factors , Tomography, X-Ray Computed/methods
3.
Am J Med Genet A ; 158A(1): 224-8, 2012 Jan.
Article in English | MEDLINE | ID: mdl-22140011

ABSTRACT

Cornelia de Lange syndrome is a pleiotropic developmental syndrome characterized by growth and cognitive impairment, facial dysmorphic features, limb anomalies, and other malformations. Mutations in core cohesin genes SMC1A and SMC3, and the cohesin regulatory gene, NIPBL, have been identified in Cornelia de Lange syndrome probands. Patients with NIPBL mutations have more severe phenotypes when compared to those with mutations in SMC1A or SMC3. To date, 26 distinct SMC1A mutations have been identified in patients with Cornelia de Lange syndrome. Here, we describe a 3-year-old girl with psychomotor and cognitive impairment, mild facial dysmorphic features but no limb anomaly, heterozygous for a c.1487G>A mutation in SMC1A which predicts p.Arg496His. We show that this mutation leads to an impairment of the cellular response to genotoxic treatments.


Subject(s)
Cell Cycle Proteins/genetics , Chromosomal Proteins, Non-Histone/genetics , DNA Damage , De Lange Syndrome/genetics , Cell Line , Child, Preschool , Codon , Female , Heterozygote , Humans , Mutation , Cohesins
4.
Gynecol Oncol ; 89(3): 376-84, 2003 Jun.
Article in English | MEDLINE | ID: mdl-12798698

ABSTRACT

OBJECTIVE: We compared the capacity of cells in normal cervical epithelium, progressive stages of CIN, and invasive carcinoma to proliferate, differentiate, and undergo apoptosis. METHODS: We investigated 30 conizations showing regular squamous epithelium of the ectocervix, all stages of cervical preinvasive neoplastic lesions (CIN I to III), or invasive carcinoma. The expression of the cell proliferation and differentiation marker Ki67 and Mad-1, respectively, and of the apoptosis-related proteins bcl-2, active caspase-3, and DNase I was analyzed on paraffin sections by immunohistochemistry. The expression of DNase I or -like enzymes was also analyzed at the level of their gene transcripts by in situ hybridization. In addition, apoptotic events were identified by in situ end labeling of fragmented DNA (ISEL). RESULTS: Expression of Ki67 was restricted to suprabasal cells in normal cervical epithelium but increased with CIN severity and invasive carcinoma. ISEL demonstrated apoptosis in superficial layers of normal, CIN I, and CIN II epithelium, whereas in CIS (CIN III) and invasive carcinoma, ISEL-positive cells were additionally observed at varying epithelial locations. Bcl-2 immunostaining remained restricted to the basal layer of all preneoplastic and neoplastic stages. Active caspase-3 was present in the suprabasal layer and extended to all upper layers in normal epithelium and slightly decreased with increasing dysplasia. In invasive carcinoma it was restricted to few scattered cells. The differentiation marker Mad-1 extended from the spinous to the superficial layer in regular epithelium, but gradually shifted to more superficial layers with increasing CIN grade and invasive carcinoma. A similar topological change was observed for DNase I with increasing CIN grade. In CIS and invasive carcinoma, DNase I immunopositive cells were solely interspersed within neoplastic cells. In contrast, DNase I specific mRNA was present in all epithelial layers in CIN III and neoplasia, suggesting a translational block of the expression of DNase I or -like enzymes. CONCLUSION: Our data indicate that the elevated proliferation observed with increasing CIN severity and carcinoma was not paralleled by a similar increase in cell elimination. Most of the dysplastic and neoplastic cervical epithelial cells appeared incapable of entering terminal differentiation and complete it by apoptosis, possibly due to their failure to express or activate apoptosis executing enzymes.


Subject(s)
Apoptosis/physiology , Cell Differentiation/physiology , Uterine Cervical Dysplasia/pathology , Uterine Cervical Neoplasms/pathology , Biomarkers, Tumor/biosynthesis , Caspase 3 , Caspases/biosynthesis , Caspases/metabolism , Cell Cycle Proteins , Deoxyribonuclease I/biosynthesis , Disease Progression , Female , Humans , Immunohistochemistry , Ki-67 Antigen/biosynthesis , Neoplasm Staging , Nuclear Proteins , Phosphoproteins/biosynthesis , Proto-Oncogene Proteins c-bcl-2/biosynthesis , Repressor Proteins/biosynthesis , Uterine Cervical Dysplasia/enzymology , Uterine Cervical Dysplasia/metabolism , Uterine Cervical Neoplasms/enzymology , Uterine Cervical Neoplasms/metabolism
5.
Säo Paulo; s.n; 2003. 128 p.
Thesis in Portuguese | LILACS | ID: lil-349956

ABSTRACT

Realiza uma avaliaçäo de eficácia do Projeto UNI Botucatu, projeto elaborado pela universidade, serviços de saúde e movimento popular. Avalia a influência do projeto no movimento popular da cidade. Aborda o processo de participaçäo popular e as mudanças no Estado ocorridas a partir da década de 70. Faz uma reconstituiçäo histórica da formaçäo do atual modelo de formaçäo dos profissionais de saúde e descreve a proposta do Projeto. Descreve as características da universidade, serviços de saúde e movimento popular em Botucatu. Analisa as mudanças propostas pelo Projeto UNI, seus principais resultados e limites.


Subject(s)
Humans , Male , Female , Education, Medical , Health Services Administration , Community Participation , Brazil , Health Workforce , Health Services , Interinstitutional Relations , Policy Making , Private Sector/organization & administration , Public Sector/organization & administration
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