Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 19 de 19
Filtrar
4.
O.F.I.L ; 32(1): 22-28, enero 2022. graf
Artigo em Espanhol | IBECS | ID: ibc-205727

RESUMO

Objetivo: Evaluar la efectividad, la seguridad, la calidad de vida y la satisfacción de pacientes con psoriasis palmo-plantar (PP) no pustulosa tratados con espuma de calcipotriol y betametasona dipropionato (Cal/BD).Material y métodos: Estudio observacional, prospectivo. Se incluyeron pacientes adultos con diagnóstico de psoriasis no controlada con afectación PP para los que estuviera indicado iniciar tratamiento tópico con Cal/BD. Las variables recogidas fueron: demográficas (sexo y edad), antropométricas (índice de masa corporal (IMC)), relacionadas con la patología (Body Surface Area (BSA) categorizado como <10% o bien ≥10%) y relacionadas con el tratamiento (tratamientos farmacológicos previos).Para evaluar la efectividad y la seguridad del tratamiento se empleó el Palmoplantar Psoriasis Area Severity Index (PPASI) y el Physician’s Global Assessment (PGA), y se recogió la incidencia y gravedad de los efectos adversos. Para valorar la calidad de vida se utilizó el Dermatology Life Quality Index (DLQI), así como el Treatment Satisfaction Questionnaire for Medication (TSQM-14) para valorar la satisfacción del paciente con el tratamiento a las 4 semanas. Las variables de efectividad y de calidad de vida se evaluaron al inicio y a las 4 semanas de tratamiento, calculándose la diferencia en términos absolutos entre ambas.Resultados: Se incluyeron 19 pacientes (11 mujeres) con una edad de 59 (RIQ 11,4) años y un IMC de 25,9 (RIQ 6,0) kg/m2, todos ellos con un BSA <10%, previamente pretratados con tratamientos tópicos (74%; 14/19), acitretino (48%; 9/19) e inmunosupresores (26%; 5/19), entre otros. (AU)


Objective: To evaluate effectiveness, safety, quality of life and satisfaction of patients with non-pustular palmo-plantar (PP) psoriasis treated with calcipotriol and betamethasone (Cal/BD) foam.Material and methods: Observational, prospective study. We included adult patients with a diagnosis of uncontrolled PP psoriasis in which topical treatment was indicated. Demographic (sex and age), anthropometric (body mass index (BMI)), related to the pathology (Body Surface Area (BSA) categorized as <10% or ≥10%) and related to the treatment (previous pharmacological treatments) variables were studied. To evaluate effectiveness and safety of the treatment, Palmoplantar Psoriasis Area Severity Index (PPASI) and Physician’s Global Assessment (PGA) were used, and the incidence and severity of the adverse effects were collected. To assess quality of life, Dermatology Life Quality Index (DLQI) was used, as well as Treatment Satisfaction Questionnaire for Medication (TSQM-14) to assess patient satisfaction with treatment at the 4th week. The variables of effectiveness and quality of life were evaluated at the beginning and at 4th week of treatment, calculating the difference in absolute terms between them.Results: We included 19 patients (11 women) with a median of 59 (IQR 11.4) years old and a BMI of 25.9 (IQR 6.0) kg/m2. All the patients showed a BSA <10% and were previously treated with topical treatments (74%; 14/19), acitretin (48%; 9/19) and immunosuppressants (26%; 5/19), among others. (AU)


Assuntos
Humanos , Psoríase , Tratamento Farmacológico , Pacientes , Qualidade de Vida , Terapêutica
5.
Actas dermo-sifiliogr. (Ed. impr.) ; 110(7): 585-589, sept. 2019. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-185529

RESUMO

Introducción: Ixekizumab es un fármaco efectivo y seguro en el tratamiento de pacientes con psoriasis dentro de ensayos clínicos. Nuestro objetivo es valorar la eficacia y seguridad de ixekizumab en la práctica clínica habitual. Material: Estudio retrospectivo incluyendo todos los pacientes que han recibido ixekizumab en 2 servicios de dermatología de la ciudad de Valencia. Resultados: Se incluyeron un total de 75 pacientes, siendo el 53,3% varones y el 46,7% mujeres con una edad media de 48,61 años. El 77,3% (58 pacientes) presentaba una psoriasis en placas, mientras que el 22,7% (17 pacientes) presentaba psoriasis de predominio en un área especial. La comorbilidad más frecuente fue obesidad en el 48% de ellos y el 40% eran naive a biológicos. El PASI inicial medio fue de 9,99, mientras que el PASI medio a la semana 16 era de 1,5. Las respuestas de PASI75 y PASI90 fueron independientes de las comorbilidades analizadas, del sexo, de la edad y del PASI basal. Los pacientes naive a biológicos respondieron mejor que los pacientes que habían recibido tratamiento biológico previo, tanto en la semana 16 como en la semana 52 de forma estadísticamente significativa. Esta observación también se mantuveroni en los pacientes con psoriasis en un área especial. El 25,7% de los pacientes refería algún efecto adverso, siendo lo más frecuente reacción en el sitio de inyección. No se observaron reacciones adversas graves. Conclusiones: El estudio plasma nuestra experiencia en la práctica clínica real de ixekizumab, siendo un fármaco efectivo y seguro para el tratamiento de la psoriasis


Background: Ixekizumab has proven efficacy and safety for the treatment of psoriasis in clinical trials. The aim of this study was to evaluate its effectiveness and safety in routine clinical practice. Methods: Retrospective study of all patients treated with ixekizumab in 2 dermatology departments in the city of Valencia, Spain. Results: Seventy-five patients (53.3% men and 46.7% women) with a mean age of 48.61 years were studied; 77.3% (n = 58) had plaque psoriasis and 22.7% (n = 17) had psoriasis predominantly affecting a specific area. The most common comorbidity was obesity (present in 48% of patients) and 40% of the overall group had not been previously treated with a biologic drug. Mean psoriasis area and severity index (PASI) fell from 9.99 at baseline to 1.5 at week 16. PASI-75 and PASI-90 (improvements of at least 75% and 90% in PASI) were independent of sex, age, baseline PASI, and the comorbidities analyzed. Responses at week 16 and 52 were significantly better in biologic-naïve patients for the overall group and the subgroup of patients with localized psoriasis. Adverse effects were reported for 25.7% of patients and the most common effect was injection-site reaction. There were no serious adverse effects. Conclusions: Our findings show that ixekizumab is both effective and safe in the treatment of psoriasis in routine clinical practice


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Anticorpos Monoclonais Humanizados/uso terapêutico , Fármacos Dermatológicos/uso terapêutico , Psoríase/tratamento farmacológico , Prática Profissional , Avaliação de Resultados em Cuidados de Saúde , Segurança do Paciente , Estudos Retrospectivos , 28599
6.
Actas Dermosifiliogr (Engl Ed) ; 110(7): 585-589, 2019 Sep.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31006480

RESUMO

BACKGROUND: Ixekizumab has proven efficacy and safety for the treatment of psoriasis in clinical trials. The aim of this study was to evaluate its effectiveness and safety in routine clinical practice. METHODS: Retrospective study of all patients treated with ixekizumab in 2 dermatology departments in the city of Valencia, Spain. RESULTS: Seventy-five patients (53.3% men and 46.7% women) with a mean age of 48.61 years were studied; 77.3% (n = 58) had plaque psoriasis and 22.7% (n = 17) had psoriasis predominantly affecting a specific area. The most common comorbidity was obesity (present in 48% of patients) and 40% of the overall group had not been previously treated with a biologic drug. Mean psoriasis area and severity index (PASI) fell from 9.99 at baseline to 1.5 at week 16. PASI-75 and PASI-90 (improvements of at least 75% and 90% in PASI) were independent of sex, age, baseline PASI, and the comorbidities analyzed. Responses at week 16 and 52 were significantly better in biologic-naïve patients for the overall group and the subgroup of patients with localized psoriasis. Adverse effects were reported for 25.7% of patients and the most common effect was injection-site reaction. There were no serious adverse effects. CONCLUSIONS: Our findings show that ixekizumab is both effective and safe in the treatment of psoriasis in routine clinical practice.


Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Produtos Biológicos/uso terapêutico , Fármacos Dermatológicos/uso terapêutico , Psoríase/tratamento farmacológico , Anticorpos Monoclonais Humanizados/efeitos adversos , Fármacos Dermatológicos/efeitos adversos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Psoríase/patologia , Estudos Retrospectivos
7.
Actas dermo-sifiliogr. (Ed. impr.) ; 103(4): 321-323, mayo 2012.
Artigo em Espanhol | IBECS | ID: ibc-101384

RESUMO

En pacientes con SIDA y leishmaniasis visceral ha sido descrita la presencia de amastigotes de Leishmania en biopsias realizadas para estudiar diversas lesiones con las que no guardan aparente relación causal. Presentamos el caso de un varón de 40 años, VIH positivo severamente inmunodeprimido, en el que se observó incidentalmente la presencia del parásito al estudiar histológicamente un carcinoma epidermoide perianal. Dicho hallazgo permitió el diagnóstico y tratamiento de una leishmaniasis visceral insospechada. No hemos encontrado en la literatura ejemplos previos de esta asociación (AU)


Amastigotes of the genus Leishmania have been observed in biopsies of apparently unrelated lesions in patients with AIDS and visceral leishmaniasis. We describe the case of a 40-year-old man with human immunodeficiency virus infection and severe immunodepression in whom the presence of the parasite was detected as an incidental finding on histological study of a perianal squamous cell carcinoma. This finding led to the diagnosis and subsequent treatment of previously unsuspected visceral leishmaniasis. In a review of the literature we have found no previous examples of this association (AU)


Assuntos
Humanos , Masculino , Feminino , Leishmaniose Visceral/diagnóstico , Leishmaniose Visceral/patologia , Síndrome de Imunodeficiência Adquirida/complicações , Infecções por Papillomavirus/diagnóstico , Biópsia por Agulha Fina , Papillomavirus Humano 16 , Leishmania/parasitologia
8.
Actas Dermosifiliogr ; 103(4): 321-3, 2012 May.
Artigo em Espanhol | MEDLINE | ID: mdl-21885024

RESUMO

Amastigotes of the genus Leishmania have been observed in biopsies of apparently unrelated lesions in patients with AIDS and visceral leishmaniasis. We describe the case of a 40-year-old man with human immunodeficiency virus infection and severe immunodepression in whom the presence of the parasite was detected as an incidental finding on histological study of a perianal squamous cell carcinoma. This finding led to the diagnosis and subsequent treatment of previously unsuspected visceral leishmaniasis. In a review of the literature we have found no previous examples of this association.


Assuntos
Síndrome de Imunodeficiência Adquirida/complicações , Carcinoma de Células Escamosas/complicações , Carcinoma de Células Escamosas/parasitologia , Leishmaniose Visceral/complicações , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/parasitologia , Adulto , Canal Anal , Humanos , Masculino
9.
Med. cután. ibero-lat.-am ; 38(4): 152-156, jul.-ago. 2010. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-95615

RESUMO

La enfermedad de Still del adulto es una enfermedad sistémica, poco frecuente, de etiología desconocida y que suele afectar a adultos jóvenes. Se caracteriza por la asociación de artralgias, fiebre alta en picos y un exantema característico. Las lesiones cutáneas están formadas por máculas eritematosas de color salmón, de aspecto urticariforme y que se distribuyen principalmente en el tronco y la raíz de extremidades. Estas lesiones son asintomáticas y aparecen en forma de erupción característicamente transitoria, de aparición vespertina y resolución posterior fugaz, siguiendo un curso paralelo al de la fiebre. Desde el punto de vista histológico se caracteriza por un infiltrado inflamatorio dérmico perivascular compuesto principalmente de linfocitos y con presencia de neutrófilos. El factor reumatoide y los anticuerpos antinucleares son negativos y en el hemograma se observa leucocitosis con neutrofilia. Otros posibles hallazgos en la enfermedad de Still del adulto son úlceras de garganta, linfadenopatías, esplenomagalia o disfunciónhepática entre otras. Presentamos los casos de cuatro mujeres con enfermedad de Still del adulto y describimos sus lesiones cutáneas, afectación sistémica, características histológicas y su evolución (AU)


Adult onset Still’s disease (AOSD) is a rare systemic illness of unknown aetiology and which usually affects young adults. It is characterised by arthralgia,high peaking temperatures and a characteristic exanthema. Cutaneous lesions are salmon coloured erythematous urticariform macula found mainly on the trunk and extremities. These lesions are symptom free and appear as typically transitory evening eruptions with posterior fleeting resolution and follow a parallel course to the high temperature. Histologically, they show a perivascular inflammatory dermic infiltrate with lymphocitic predominance and containing some neutrophils. Rheumatoid factors and antinuclear antibodies are negative and leucocytosis with neutrophilia is seenon blood analysis. Other possible findings in AOSD are sore throat, lymphoadenopathies, splenomegalia or liver dysfunction, among others.AOSD in 4 females is presented describing cutaneous lesions, systemic involvement, histological results and evolution (AU)


Assuntos
Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Doença de Still de Início Tardio/diagnóstico , Exantema/etiologia , Artralgia/etiologia , Febre/etiologia , Diabetes Mellitus , Prednisona/uso terapêutico
10.
Med. cután. ibero-lat.-am ; 36(2): 76-79, mar.-abr. 2008. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-60916

RESUMO

La enfermedad de Still del adulto es una enfermedad sistémica, poco frecuente, de etiología desconocida y que suele afectar a adultos jóvenes. Se caracterizapor la asociación de artralgias, fiebre alta en picos y un exantema característico. Las lesiones cutáneas están formadas por máculas eritematosas decolor salmón, de aspecto urticariforme y que se distribuyen principalmente en el tronco y la raíz de extremidades. Estas lesiones son asintomáticas y aparecenen forma de una erupción característicamente transitoria, de aparición vespertina y resolución fugaz, siguiendo un curso paralelo al de la fiebre. Desdeel punto de vista histológico se caracteriza por un infiltrado inflamatorio dérmico perivascular compuesto principalmente de linfocitos y con presencia deneutrófilos. El factor reumatoide y los anticuerpos antinucleares son negativos y en el hemograma se observa leucocitosis con neutrofilia. Otros posibleshallazgos en la enfermedad de Still del adulto son úlceras en la garganta, linfadenopatías, esplenomegalia o disfunción hepática entre otras.Presentamos los casos de cuatro mujeres con enfermedad de Still del adulto y describimos sus lesiones cutáneas, afectación sistémica, característicashistológicas y su evolución (AU)


Adult onset Still’s disease (AOSD) is a rare systemic illness of unknown aetiology and which usually affects young adults. It is characterised by arthralgia,high peaking temperatures and a characteristic exanthema. Cutaneous lesions are salmon coloured erythematous urticariform macula located mainly onthe trunk and extremities. These lesions are symptom free and appear as typically transitory evening eruptions with posterior fleeting resolution and followa parallel course to the fever. Histologically, they show a perivascular inflammatory dermic infiltrate with lymphocitic predominance and containing someneutrophils. Rheumatoid factors and antinuclear antibodies are negative and leucocytosis with neutrophilia is seen on blood analysis. Other possible findingsin AOSD are sore throat, lymphoadenopathies, splenomegalia or liver dysfunction, among others (AU)


Assuntos
Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Doença de Still de Início Tardio/diagnóstico , Doença de Still de Início Tardio/tratamento farmacológico , Doença de Still de Início Tardio/patologia , Prednisona/uso terapêutico , Corticosteroides
11.
Clin Genet ; 63(1): 53-8, 2003 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-12519372

RESUMO

Scavenger receptor, class B, type 1 (SRBI) is a promising candidate gene involved in the pathophysiology of atherosclerosis. We have examined the association of three common polymorphisms at the SRBI locus in 77 subjects who were heterozygous for familial hypercholesterolemia (FH). The alleles represented by polymorphisms in exon 1 and exon 8 were associated with variation in plasma concentrations of fasting triglyceride (TG). Mean plasma TG concentrations for homozygotes for the most common allele, and for heterozygotes and homozygotes for the less common allele were 85 +/- 6, 111 +/- 9 and 135 +/- 22 mg/dl (p = 0.011) for exon 1, and 96 +/- 11, 86 +/- 6 and 134 +/- 13 mg/dl (p = 0.007) for exon 8, after adjustment for age, sex and body mass index. In addition, the exon 8 polymorphism was associated with increased total cholesterol (320 +/- 15, 340 +/- 8 and 388 +/- 18 mg/dl, p = 0.015), very low density lipoprotein (VLDL) cholesterol (18 +/- 2.9, 15.7 +/- 1.6 and 33.4 +/- 3.9 mg/dl, p < 0.001) and low density lipoprotein (LDL) cholesterol (251 +/- 15, 270 +/- 8 and 312 +/- 10 mg/dl, p = 0.041) concentrations. In agreement with animal studies, our data also suggest a role for the SRBI in the metabolism of apolipoprotein B (apoB)-containing lipoproteins in humans. This pathway may constitute a backup mechanism to LDL receptor-mediated pathways for the catabolism of these lipoproteins, which could be particularly relevant in subjects with high levels of apoB-containing lipoproteins, such as those occurring in patients with FH.


Assuntos
Hiperlipoproteinemia Tipo II/genética , Lipoproteínas/sangue , Proteínas de Membrana , Polimorfismo Genético , Receptores Imunológicos/genética , Receptores de Lipoproteínas , Adulto , Análise de Variância , Feminino , Frequência do Gene , Heterozigoto , Humanos , Hiperlipoproteinemia Tipo II/metabolismo , Lipoproteínas/genética , Masculino , Receptores Depuradores , Receptores Depuradores Classe B
14.
Metabolism ; 50(6): 651-6, 2001 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-11398140

RESUMO

Cholesteryl ester transfer protein (CETP) facilitates the exchange of triglycerides (TG) and cholesteryl ester between lipoprotein particles. Subjects with familial hypercholesterolemia (FH) have been reported to have higher CETP activities, which could contribute to the lower high-density lipoprotein-cholesterol (HDL-C) levels and increased cardiovascular risk observed in some of these patients. Several polymorphisms have been reported in the CETP locus; the common TaqlB polymorphism is associated, in normolipidemic subjects, with decreased CETP activity and levels and with increased HDL-C levels. No data is available on the influence of this polymorphism in FH subjects. We have examined the TaqIB polymorphism in a group of 101 FH heterozygotes from Valencia, Spain. We have observed a frequency of 0.43 for the B2 allele, similar to those reported in the general population. Based on analysis of variance (ANOVA), we found significant associations between the presence of the B2 allele and increased plasma HDL-C (P <.04) and apolipoprotein A-I (apoA-I) levels (P <.01). An opposite association was observed for low-density lipoprotein-cholesterol (LDL-C) levels, with the B2/B2 subjects having lower levels than B1/B1 and B1/B2 subjects. The plasma apoB levels followed the same trend as those for LDL-C. In addition, the response to a National Cholesterol Education Program (NCEP)-I diet was studied in 77 of these subjects. The TaqlB polymorphism did not have a significant effect over the individual dietary response for any of the variables examined, as demonstrated by the lack of significant gene by diet interactions. In summary, the CETP TaqlB polymorphism is associated with a less atherogenic lipid profile, consisting of lower LDL-C, higher HDL-C levels, and a lower LDL-C/HDL-C ratio in heterozygous FH subjects. Moreover, the B2 allele was associated with a lower appearance of arcus cornealis, xanthomata, and clinical arteriosclerotic disease in these subjects.


Assuntos
Proteínas de Transporte/genética , Glicoproteínas , Hiperlipoproteinemia Tipo II/dietoterapia , DNA Metiltransferases Sítio Específica (Adenina-Específica)/genética , Adulto , Alelos , Doenças Cardiovasculares/prevenção & controle , Proteínas de Transporte/metabolismo , Colesterol/sangue , Proteínas de Transferência de Ésteres de Colesterol , Feminino , Genótipo , Humanos , Hiperlipoproteinemia Tipo II/sangue , Hiperlipoproteinemia Tipo II/genética , Lipoproteínas/sangue , Masculino , Polimorfismo Genético , Espanha
15.
Nutr Metab Cardiovasc Dis ; 10(1): 7-13, 2000 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-10812582

RESUMO

The response of plasma lipids to dietary fat and cholesterol is partly genetically controlled. Apolipoprotein (Apo) E polymorphism has been shown to influence basal plasma lipid levels and the response to dietary changes in normolipidemic individuals. In general, subjects carrying the E4 allele have higher basal total and low density lipoprotein cholesterol (LDL-C) plasma levels and show an increased LDL-C response to dietary manipulation. The response to diet in subjects with familial hypercholesterolemia (FH) is also variable, but the influence of apo E genotypes on their dietary response has received little attention. We studied such influence on the lipid response to the National Cholesterol Education Program type I (NCEP-I) diet in 69 FH heterozygotes (44 women and 25 men). Subjects were studied at baseline (after consuming for 1 month a diet with 35% fat [10% saturated] and 300 mg cholesterol) and after 3 months of consuming a low-fat diet. No sex-related differences were found, and results were combined for men and women. The frequency distribution of apo E alleles was similar to that described in the general Spanish population: 0.0724 for the E2 allele, 0.0724 for E4 and 0.8551 for E3. Baseline plasma lipid and lipoprotein values were not influenced by apo E genotype. The response to the NCEP-I diet was similar in all subjects and no apoE allele-related differences were identified. As in non-FH subjects, there was a nonsignificant trend towards greater LDL-C lowering in E4 (-19.3%) than in E3 (-18.2%), and E2 (-16.6%) carriers. This finding supports the hypothesis that the impact of genetic defects at the low density lipoprotein receptor (LDLR) locus in FH subjects prevails over any influence on the part of ApoE polymorphism.


Assuntos
Apolipoproteínas E/genética , Dieta com Restrição de Gorduras , Hiperlipoproteinemia Tipo II/genética , Lipídeos/sangue , Adulto , Idoso , Apolipoproteínas B/sangue , Colesterol/sangue , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Feminino , Genótipo , Humanos , Hiperlipoproteinemia Tipo II/sangue , Hiperlipoproteinemia Tipo II/dietoterapia , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Triglicerídeos/sangue
16.
Atherosclerosis ; 139(1): 107-13, 1998 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-9699897

RESUMO

We have examined the apo AI - 75 (G/A) and apo AI + 83(MspI +/-) polymorphisms at the APOA1 gene locus for associations with plasma lipid levels and response to an NCEP-I diet in 69 (44 women, 25 men) heterozygotes for familial hypercholesterolemia (FH). Subjects were studied at baseline (after consuming for one month a diet with 35%, fat, 10% saturated, and 300 mg/day cholesterol) and after 3 months of an NCEP-I diet. No gender-related differences for any of the lipid variables examined were found and the data were analyzed for men and women combined. For the apo AI - 75 (G/A) polymorphism, there were 51 G/G and 18 G/A subjects. At baseline, G/A subjects showed significantly lower total cholesterol (p = 0.0036), and LDL-C (p = 0.0023), and apo B (p = 0.0209), than G/G individuals, but no differences were found for HDL-C, triglycerides and VLDL-C values. Following the NCEP-I diet these genotype-related differences remained significant for total and LDL-C. The MspI (-) allele at the apo AI + 83 polymorphism was detected in the heterozygous state in five subjects and its presence was not associated with altered baseline lipids nor with dietary response to the NCEP-I diet. Our results suggest that FH subjects carrying the A allele at the apoAI - 75 (G/A) polymorphism have significantly lower total and LDL-C and apo B baseline levels but respond to a low-fat diet with similar reductions in total and LDL-C when compared with homozygotes for the G allele at this polymorphic site.


Assuntos
Apolipoproteína A-I/genética , Dieta , Variação Genética , Hiperlipoproteinemia Tipo II/genética , Lipídeos/sangue , Adulto , Alelos , HDL-Colesterol/sangue , LDL-Colesterol/sangue , VLDL-Colesterol/sangue , Feminino , Genótipo , Heterozigoto , Humanos , Masculino , Polimorfismo Genético
17.
Arterioscler Thromb Vasc Biol ; 18(8): 1266-74, 1998 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-9714133

RESUMO

Plasma lipid response to dietary fat and cholesterol is, in part, genetically controlled. The apolipoprotein A-IV (apoA-IV protein; APOA4, gene) has been shown to influence the response to dietary changes in normolipidemic individuals. The response to diet in subjects with familial hypercholesterolemia (FH) is also variable, and no studies are available on the influence of APOA4 mutations on dietary response in these subjects. We studied the effect of 2 common apoA-IV genetic variants (Gln360-->His and Thr347-->Ser) on the lipid response to the National Cholesterol Education Program type I (NCEP-I) diet in 67 FH heterozygotes (43 women and 24 men). Subjects were studied at baseline (after consuming for 1 month a diet with 35% fat [10% saturated] and 300 mg/d cholesterol) and after 3 months of consuming a low-fat diet. No sex-related differences were found, and results were combined for men and women. The APOA4-360 mutation was assessed in 67 subjects, 51 with genotype 1/1 and 16 with genotype 1/2. The APOA4-2 allele was associated with marginally significantly lower (P=0.049) low density lipoprotein (LDL) cholesterol levels and significantly lower (P=0.027) apoB levels independent of diet effects. After consuming an NCEP-I diet, carriers of the APOA4-2 allele showed a significantly lower reduction in apoB concentration (6.2%) than 1/1 subjects (14.1%; P=0.036); however, no significant differences in response were noted for LDL cholesterol. The APOA4-347 mutation was assessed in 63 individuals, 44 with the A/A allele and 19 with the A/T and T/T alleles. No significant differences were observed in baseline or post-NCEP-I diet values for these 2 groups in total, LDL, and high density lipoprotein cholesterol and plasma apoB levels. After dietary intervention, A/A individuals showed significant reductions in plasma triglyceride and very low density lipoprotein cholesterol levels; no changes were found in carriers of the T allele. Haplotype analysis suggested that in these FH subjects, the APOA4-360-2 allele was associated with lower plasma lipid levels during the NCEP-I diet period, whereas no significant effects were observed for the APOA4-347-T allele.


Assuntos
Apolipoproteínas A/genética , Variação Genética/genética , Hipercolesterolemia/dietoterapia , Hipercolesterolemia/genética , Adulto , Alelos , Análise de Variância , Gorduras na Dieta/administração & dosagem , Feminino , Genótipo , Heterozigoto , Humanos , Hipercolesterolemia/sangue , Lipídeos/sangue , Masculino , Pessoa de Meia-Idade , Mutação/genética , Estatísticas não Paramétricas
18.
Med Clin (Barc) ; 108(14): 530-3, 1997 Apr 12.
Artigo em Espanhol | MEDLINE | ID: mdl-9190437

RESUMO

BACKGROUND: We have studied the abnormalities in glucose and insulin metabolism in a group of nondiabetic subjects with familial combined hyperlipidemia (FCH) in order to ascertain the contribution of metabolic risk factors to the elevated coronary heart disease incidence observed in FCH. PATIENTS AND METHODS: The study includes 42 non-diabetic subjects (25 male and 17 women, mean age 49.1 +/- 9.3 years), diagnosed with FCH by clinical and analytical studies of the probands and first degree relatives. Forty two control subjects of similar age, sex and body weight were also studied. In both groups plasma lipids and lipoproteins, plasma glucose and insulin basal and after oral glucose tolerance test (OGTT) were studied. RESULTS: The mean age, BMI and the separation by gender was similar in the two groups. The mean systolic and diastolic blood pressures were higher (p < 0.01) in the FCH group compared with controls (145.4/90.1 and 131.5/76.3 mmHg, respectively). The levels of lipids and apo B were also higher in the FCH group. The plasma glucose values were significantly higher at 30, 60, 90 and 120 minutes during OGTT and the plasma insulin at 0, 60, 90 and 120 minutes of OGTT in FCH respect to controls. The area under the curve of the secretion of insulin was 11652.0 +/- 2281.1 and 7205.4 +/- 2289.1 pmol/l/min in FCH and controls (p < 0.01), respectively. The percentage of subjects with basal hyperinsulinemia was 66.6% in the FCH group and 9.5% in the controls (p < 0.01); at 2 hours OGTT, 78.5% and 9.5% in FCH and controls, respectively (p <0.01). The insulin secretion was significantly related with the plasma triglycerides levels, cholesterol bourded to very low density lipoproteins and systolic and diastolic blood pressure. CONCLUSIONS: Hyperinsulinism is a frequent finding in non-diabetic subjects with FCH, both with normal and abnormal glucose tolerance and could contribute to the high incidence of cardiovascular risk in these patients.


Assuntos
Hiperinsulinismo/etiologia , Hiperlipidemia Familiar Combinada/metabolismo , Insulina/metabolismo , Adulto , Glicemia/análise , Peso Corporal , Doença das Coronárias/etiologia , Feminino , Teste de Tolerância a Glucose , Humanos , Hiperlipidemia Familiar Combinada/sangue , Insulina/sangue , Secreção de Insulina , Lipídeos/sangue , Lipoproteínas/sangue , Masculino , Pessoa de Meia-Idade , Fatores de Risco
19.
An Med Interna ; 14(3): 131-4, 1997 Mar.
Artigo em Espanhol | MEDLINE | ID: mdl-9235082

RESUMO

INTRODUCTION: Leydig cell tumors may generate estrogen production and gynecomastia. CASE PRESENTED: A 32-year man asked for medical advice due to gynecomastia. He had raised estrogen levels and diminished testosterone/estradiol index. A testicular echogram showed a nodular image in the right testis. Orchidectomy was performed and the diagnosis of a Leydig cell tumor was confirmed. The gynecomastia diminished, and estradiol remained lightly elevated, with little response to HCG. DISCUSSION: The more frequent hormonal manifestations of these tumors are high plasmatic and urinary estrogen levels, low serum testosterone, low testosterone/estradiol index, and FSH or LH low levels as well. The low response to HCG, the absence of metastasis and the good clinical evolution suggested the tumor was benign. Testicular echography is useful in the diagnosis of these tumors.


Assuntos
Ginecomastia/etiologia , Tumor de Células de Leydig/complicações , Neoplasias Testiculares/complicações , Adulto , Humanos , Masculino
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...