RESUMO
We describe a case of botryoid rhabdomyosarcoma with the karyotype 53,XX,+2,+5,+8,+12,+13, i(17)(q10),+19,+20. Only two cytogenetically analyzed cases of this tumor were previously reported and structural chromosomal abnormalities in each tumor were different.
Assuntos
Aberrações Cromossômicas/genética , Cromossomos Humanos Par 17/genética , Isocromossomos/genética , Rabdomiossarcoma/genética , Neoplasias Vaginais/genética , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Aberrações Cromossômicas/patologia , Transtornos Cromossômicos , Análise Citogenética , Feminino , Humanos , Prognóstico , Rabdomiossarcoma/tratamento farmacológico , Rabdomiossarcoma/patologia , Neoplasias Vaginais/tratamento farmacológico , Neoplasias Vaginais/patologiaRESUMO
We describe a case of low-grade myxofibrosarcoma with the karyotype 46,XX,t(2;15)(p23;q21.2), del(7)(q?11.2q?22). Only six of these tumors have been previously studied and all were cytogenetically different.
Assuntos
Cromossomos Humanos Par 15 , Cromossomos Humanos Par 2 , Cromossomos Humanos Par 7 , Fibrossarcoma/genética , Deleção de Genes , Translocação Genética , Idoso , Neoplasias Ósseas/secundário , Neoplasias Ósseas/cirurgia , Mapeamento Cromossômico , Feminino , Fibrossarcoma/patologia , Fibrossarcoma/secundário , Fibrossarcoma/cirurgia , Humanos , Cariotipagem , Neoplasias Musculares/secundário , Neoplasias Musculares/cirurgia , Recidiva Local de Neoplasia/genética , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/cirurgia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgiaRESUMO
A case of sclerosing epithelioid fibrosarcoma was studied. The tumor cells expressed vimentin, focally epithelial membrane antigen and CD34, contained cisternae of rough endoplasmic reticulum, large Golgi apparatus, many pinocytotic vesicles, and were devoid of basal lamina. Their composite karyotype was 45,Y,t(X;6)(q13;q15), t(6;13)(p11.2;q13),-22¿2/46,Y,t(X;6)(q13;q15),add(13)(p12), add(22)(q13)¿3/44 approximately 46,der(X)t(X;6)(q13;q21),-Y, t(13;14)(q10;q10),-22,add(22)(q13)¿7/46,XY¿8.
Assuntos
Fibrossarcoma/patologia , Neoplasias de Tecidos Moles/patologia , Antígenos CD34/análise , Biomarcadores Tumorais/análise , Cromossomos Humanos Par 12/genética , Células Clonais , Fibrossarcoma/química , Fibrossarcoma/classificação , Fibrossarcoma/imunologia , Amplificação de Genes , Humanos , Cariotipagem , Antígeno Ki-67/análise , Perna (Membro) , Masculino , Pessoa de Meia-Idade , Proteínas de Neoplasias/análise , Neoplasias de Tecidos Moles/química , Neoplasias de Tecidos Moles/imunologia , Transativadores/genéticaRESUMO
OBJECTIVE: To determine the clinical and immunogenetic features of systemic sclerosis (SSc) patients with anti-RNA polymerase (RNAP) or anti-fibrillarin antibodies. METHODS: DNA typing for HLA-DR and DQ alleles was performed in 292 patients with SSc, including 81 with anti-RNAP and 24 with anti-fibrillarin antibodies. The remaining patients had anti-topoisomerase I (anti-topo I; 71), anti-centromere (ACA; 56), anti-Th/To (28), or other antinuclear (32) antibodies. RESULTS: Significant associations were observed in the patients with anti-topo I, ACA, and anti-Th/To antibodies, similar to those previously reported. No significant HLA associations were detected in the 81 patients with anti-RNAP. although weak associations were noted when this group was subdivided on the basis of immunofluorescence staining pattern; i.e., HLA-DR4 was increased in patients with strong nucleolar staining and HLA-DR3 was more frequent in patients with nucleoplasm staining only. No HLA-DR or DQ associations were observed in 24 patients with anti-fibrillarin antibodies. CONCLUSION: The identification of HLA associations in SSc patients with anti-RNAP antibodies may only be possible when the individual antibody specificities recognized by these sera are identified. It may then be possible to classify these patients into distinct clinical and immunogenetic subgroups.
Assuntos
RNA Polimerases Dirigidas por DNA/imunologia , Antígenos HLA-DQ/genética , Antígenos HLA-DR/genética , Escleroderma Sistêmico/imunologia , Alelos , Anticorpos Antinucleares/análise , Autoanticorpos/análise , Frequência do Gene , Humanos , Escleroderma Sistêmico/genéticaRESUMO
We report 3 patients with polymyositis and the anti-Jo-1 antibody who developed fatal adult respiratory distress syndrome (ARDS). Other than the presence of the anti-Jo-1 antibody, there were no other consistent clinical features at the onset of disease that were predictive of ARDS development.
Assuntos
Anticorpos Antinucleares/sangue , Polimiosite/complicações , Polimiosite/imunologia , Síndrome do Desconforto Respiratório/etiologia , Adulto , Evolução Fatal , Feminino , Humanos , Pessoa de Meia-IdadeAssuntos
Instituição de Longa Permanência para Idosos/organização & administração , Avaliação em Enfermagem , Equipe de Assistência ao Paciente/organização & administração , Cuidados Intermitentes/organização & administração , Idoso , Intervenção em Crise , Demência/enfermagem , Humanos , Illinois , Inovação Organizacional , Recursos HumanosRESUMO
A survey of senior citizens living independently in two retirement communities reveal the factors that influence facility selection: mental and physical activities, comfort and security, personal services, conveniences and independence-promoting features.
Assuntos
Comportamento do Consumidor/estatística & dados numéricos , Tomada de Decisões , Habitação para Idosos/normas , Casas de Saúde/normas , Idoso , Ambiente de Instituições de Saúde , Humanos , Ohio , Qualidade da Assistência à Saúde , Inquéritos e QuestionáriosRESUMO
Previous studies in patients suffering from essential fatty acid deficiency (EFAD) have shown erythrocyte membrane fatty acids to change in parallel with those seen in plasma. A study was conducted to determine if this same relationship existed in patients that were not diagnosed as having EFAD. Three subjects maintained on parenteral nutrition were given 500 milliliters of a safflower oil emulsion twice weekly for 14 days. Plasma and red blood cell membrane fatty acids were determined before and after the study period. The red blood cell membrane fatty acids did not appear to follow the changes seen in the plasma. Changes that did occur in the erythrocyte membrane fatty acid composition were inconsistent between patients. The incorporation of plasma fatty acids into erythrocyte membranes may occur at a different rate for patients with EFAD compared to those without EFAD due to an increased red blood cell turnover associated with EFAD.