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1.
Curr Diabetes Rev ; 2020 Jan 20.
Artículo en Inglés | MEDLINE | ID: mdl-31987023

RESUMEN

BACKGROUND: Cardiovascular disease (CVD), the main macro vascular complication of type 2 diabetes (T2D), increases the risk of death significantly in patients with T2D. INTRODUCTION: Most of patients with T2D do not have manifest CVD. Due to paucity of data, CVD screening in asymptomatic patients with T2D remains highly controversial. METHODS: This has driven a panel of experts to establish a novel consensus on how to approach patients with T2D at high CVD risk. The panel formulated a stepwise algorithm by which patients with T2D undergo initial risk stratification into low, intermediate and high risk using the ASCVD calculator. In patients with intermediate risk, coronary artery calcium measurement is used to further stratify those patients into new low and high-risk categories. RESULTS AND CONCLUSION: The panel recommends using standard diabetes care in low risk patients and using SGLT2 inhibitors and GLP1 agonists with cardio protective effect, on top of standard care, in high risk individuals.

2.
J Clin Lipidol ; 12(6): 1374-1382, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30361172

RESUMEN

BACKGROUND: The Middle East region is characterized by low levels of high-density lipoprotein cholesterol (HDL-C). To date, no genetic study has investigated the cause of low HDL-C in the Lebanese population. OBJECTIVE: Our objective was to study the genetic causes for hypoalphalipoproteinemia in a Lebanese family with extremely low HDL-C levels. METHODS: We sequenced the ABCA1 gene and evaluated cholesterol efflux, inflammatory, and metabolic profiles in the proband and his family. RESULTS: We identified the first Lebanese pathogenic variant in ABCA1 gene causing Tangier disease in a consanguineous family. The proband carried a novel homozygous pathogenic variant p.Gly592Asp in exon 14 of ABCA1, which segregated with the disease in the family. Functional study of the p.Gly592Asp pathogenic variant revealed that lipid-free apolipoprotein A-I-dependent cholesterol efflux was completely abolished in cholesterol-loaded human monocytes-derived macrophages isolated from the proband when compared to controls. Systemic inflammatory and metabolic assessments showed that plasma cytokines (MCP-1, MIP-1α, IL-6, CRP, TNF-α), adhesion molecules (ICAM-1, VCAM-1, E-selectin), inflammatory soluble receptors (sIL-6r, sTNFRI, sTNFRII), and metabolic markers (Insulin, C-peptide) were elevated in the proband when compared to controls. Noninvasive cardiovascular investigation revealed the presence of premature artery lesions in the proband. CONCLUSIONS: It is the first case of Tangier disease reported in Lebanon harboring a novel pathogenic variant in ABCA1. Further genetic research is needed in the Middle East where the consanguinity rate is elevated, to understand the cause of the highly prevalent dyslipidemia. This will help guiding the early diagnosis, management, and prevention of cardiovascular complications.


Asunto(s)
Transportador 1 de Casete de Unión a ATP/genética , Variación Genética , Enfermedad de Tangier/genética , Adulto , Anciano , Anciano de 80 o más Años , HDL-Colesterol/sangre , Exones/genética , Femenino , Humanos , Líbano , Masculino , Persona de Mediana Edad , Linaje , Enfermedad de Tangier/sangre
3.
Pituitary ; 20(2): 231-240, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-27783196

RESUMEN

BACKGROUND: Prolactinomas are the commonest functional tumors of the pituitary gland. There are still controversies regarding medical therapy in specific clinical situations. Patients may be managed by different specialists in the Middle East and North Africa (MENA) region and no data exist on patterns of clinical management. OBJECTIVES: To ascertain the diagnostic and therapeutic approaches to prolactinomas among relevant professionals from the MENA region. METHODS: An online survey of a large sample of physicians was conducted. The questionnaire covered various aspects of diagnosis and treatment of prolactinomas. 468 respondents were included; 36 % were endocrinologists; 49 % worked in public facilities and 81 % graduated more than 10 years. 40 and 30 % would have seen 1-5 and more than 5 suspected or confirmed prolactinomas over a 6 months period, respectively. RESULTS: Regarding the diagnosis, 30 % of the respondents considered that prolactin levels <100 ng/ml exclude the presence of a prolactinoma. 21 % of respondents considered prolactin levels >250 ng/ml compatible with macroprolactinomas only, whereas others accepted this to be compatible also with microprolactinomas, macroprolactinaemia and drug-induced hyperprolactinemia (50, 42 and 36 % respectively). 71 % of respondents favored the screening for macroprolactin in asymptomatic individuals with hyperprolactinemia. Regarding the treatment, 84 % of respondents would treat microprolactinomas even in the absence of symptoms whereas 72 % of the respondents would treat microprolactinomas only if symptoms exist. 60 and 49 % of the respondents chose cabergoline as the drug of choice to treat macroprolactinomas and microprolactinomas respectively. Similar proportions had no preference of either cabergoline or bromocriptine as the best treatment for macroprolactinoma (27 %) and microprolactinomas (32 %). 46 and 75 % of respondents favored treatment withdrawal 2-3 years after prolactin normalization in patients with macroprolactinomas and microprolactinomas, respectively whereas 10 % of respondents withdraw treatment after menopause in either case. 94 % of respondents considered medical therapy as the primary treatment for microprolactinomas. In case of pregnancy, 49 % considered bromocriptine as the drug of choice for women who wish to become pregnant. 65 and 38 % of respondents advocated discontinuation of treatment with dopamine agonists in patients with microprolactinomas and macroprolactinomas, respectively. Finally, 48 % would allow breast-feeding without restriction, 28 % would restrict it to patients with microprolactinomas and 25 % would not recommend it for women with prolactinomas. CONCLUSIONS: This is the first study of the clinical management of prolactinomas in the MENA region. Some of the practices are not in line with the latest Endocrine and Pituitary Societies guidelines. These warrant further discussions of contemporary guidelines in regional forums.


Asunto(s)
Médicos/estadística & datos numéricos , Prolactinoma/tratamiento farmacológico , Adulto , África del Norte , Cabergolina , Agonistas de Dopamina/uso terapéutico , Ergolinas/uso terapéutico , Femenino , Humanos , Medio Oriente , Neoplasias Hipofisarias/tratamiento farmacológico , Embarazo , Prolactina/metabolismo , Encuestas y Cuestionarios
4.
Atherosclerosis ; 252: 182-187, 2016 09.
Artículo en Inglés | MEDLINE | ID: mdl-27522462

RESUMEN

The increase in the cardiovascular disease (CVD)-associated mortality rate in the Middle East (ME) is among the highest in the world. The aim of this article is to review the current prevalence of dyslipidaemia and known gaps in its management in the ME region, and to propose initiatives to address the burden of dyslipidaemia. Published literature on the epidemiology of dyslipidaemia in the ME region was presented and discussed at an expert meeting that provided the basis of this review article. The high prevalence of metabolic syndrome, diabetes, familial hypercholesterolaemia (FH) and consanguineous marriages, in the ME region, results in a pattern of dyslipidaemia (low high-density lipoprotein cholesterol and high triglycerides) that is different from many other regions of the world. Early prevention and control of dyslipidaemia is of paramount importance to reduce the risk of developing CVD. Education of the public and healthcare professionals and developing preventive programs, FH registries and regional guidelines on dyslipidaemia are the keys to dyslipidaemia management in the ME region.


Asunto(s)
Cardiología/normas , Dislipidemias/epidemiología , Dislipidemias/terapia , Hiperlipoproteinemia Tipo II/epidemiología , Cardiología/métodos , Bases de Datos Factuales , Dislipidemias/diagnóstico , Femenino , Humanos , Masculino , Medio Oriente , Prevalencia , Sistema de Registros , Factores de Riesgo
5.
J Clin Lipidol ; 10(2): 378-85, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27055969

RESUMEN

BACKGROUND: The prevalence of dyslipidelmia in pediatric Middle-Eastern populations is unknown. Our study aims to investigate the distribution and correlates of non-high-density lipoprotein cholesterol (non-HDL-C) and triglycerides among Lebanese school children. METHODS: A total of 969 subjects aged 8-18 years were included in the study (505 boys and 464 girls). Recruitment was done from 10 schools located in the Great Beirut and Mount-Lebanon areas. Non-fasting total cholesterol, triglycerides, and HDL-cholesterol (HDL-C) were measured. Non-HDL-C was calculated. Schools were categorized into 3 socioeconomic statuses (SESs; low, middle, and high). RESULTS: In the overall population, the prevalence of high non-HDL-C (>3.8 mmol/L), very high non-HDL-C (>4.9 mmol/L), and high triglycerides (>1.5 mmol/l) are respectively 9.2%, 1.24%, and 26.6%. There is no significant gender difference for non-HDL-C or triglycerides. Non-HDL-C and triglycerides are inversely correlated with age in girls (P < .0001 for both variables) but not in boys. They are also positively correlated with body mass index (BMI) in boys and girls (P < .0001 for all variables). There is no relationship between schools' socioeconomic process (SES) and non-HDL-C. However, triglycerides are higher in children from lower SES schools. After adjustment for age and body mass index (BMI), testosterone is inversely associated with triglycerides in boys (P < .0001). In a multivariate regression analysis, non-HDL-C is independently associated with age and BMI in girls (P < .0001 for both variables) but only with BMI in boys (P < .0001), whereas triglycerides are independently associated with BMI and schools' SES in both girls and boys. CONCLUSIONS: This study confirms, in our population, the association between obesity and both high non-HDL-C and triglycerides, and between high triglycerides and low SES.


Asunto(s)
Colesterol/sangre , Instituciones Académicas/estadística & datos numéricos , Triglicéridos/sangre , Adolescente , Distribución por Edad , Índice de Masa Corporal , Niño , Dislipidemias/sangre , Dislipidemias/epidemiología , Femenino , Humanos , Líbano/epidemiología , Masculino , Distribución por Sexo , Clase Social , Testosterona/sangre
6.
Vasc Health Risk Manag ; 10: 225-35, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24872710

RESUMEN

BACKGROUND: Cardiovascular disease is the leading cause of death and disability worldwide. Therefore, as part of the Dyslipidemia International Study (DYSIS), we have analyzed the prevalence of lipid abnormalities and risk factors for dyslipidemia in statin-treated patients in Lebanon and Jordan. METHODS: This cross-sectional, multicenter study enrolled 617 patients at 13 hospitals in Lebanon and Jordan. Patients were at least 45 years old and had been treated with statins for at least 3 months. Multivariate logistic regression analysis was used to determine patient characteristics contributing to dyslipidemia during statin therapy. RESULTS: Our findings indicated that 55.9% of statin-treated patients (mean age 60.3 years, 47% female) in Lebanon and Jordan did not achieve goal levels for low-density lipoprotein cholesterol which were dependent on Systematic Coronary Risk Evaluation (SCORE) risk, and 70% of patients (76% men and 63.3% of women) were at very high cardiovascular risk. Low-density lipoprotein cholesterol goals were not achieved in 67.2% of those with very high cardiovascular risk. The most commonly prescribed statin was atorvastatin (44.6%), followed by simvastatin (27.7%), rosuvastatin (21.2%), fluvastatin (3.3%), pravastatin (3%), and lovastatin (0.2%). Approximately half of the population was treated with a statin dose potency of 4, equaling 40 mg of simvastatin. In Lebanon and Jordan, the strongest independent associations with low-density lipoprotein cholesterol not at goal were current smoking (odds ratio [OR] 1.96; 95% confidence [CI] 1.25-3.08), diabetes mellitus (OR 2.53; 95% CI 1.70-3.77), and ischemic heart disease (OR 2.26; 95% CI 1.45-3.53), while alcohol consumption was associated with reduced risk (OR 0.12; 95% CI 0.03-0.57). CONCLUSION: We observed that many patients in Lebanon and Jordan experienced persistent dyslipidemia during statin treatment, supporting the notion that novel lipid-lowering strategies need to be developed. Also, social programs aimed at combating the extremely high rates of tobacco use and obesity in Lebanon and Jordan are critical for combating cardiovascular disease in these countries.


Asunto(s)
Dislipidemias/tratamiento farmacológico , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Anciano , Consumo de Bebidas Alcohólicas/efectos adversos , Consumo de Bebidas Alcohólicas/epidemiología , Biomarcadores/sangre , Estudios Transversales , Dislipidemias/sangre , Dislipidemias/diagnóstico , Dislipidemias/epidemiología , Femenino , Humanos , Jordania/epidemiología , Líbano/epidemiología , Lípidos/sangre , Modelos Logísticos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Oportunidad Relativa , Prevalencia , Factores de Riesgo , Fumar/efectos adversos , Fumar/epidemiología , Factores de Tiempo , Resultado del Tratamiento
7.
Atheroscler Suppl ; 15(1): 1-15, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24840509

RESUMEN

Reducing low-density lipoprotein cholesterol (LDL-C) levels using statins is associated with significant reductions in cardiovascular (CV) events in a wide range of patient populations. Although statins are generally considered to be safe, recent studies suggest they are associated with an increased risk of developing Type 2 diabetes (T2D). This led the US Food and Drug Administration (FDA) to change their labelling requirements for statins to include a warning about the possibility of increased blood sugar and HbA1c levels and the European Medicines Agency (EMA) to issue guidance on a small increased risk of T2D with the statin class. This review examines the evidence leading to these claims and provides practical guidance for primary care physicians on the use of statins in people with or at risk of developing T2D. Overall, evidence suggests that the benefits of statins for the reduction of CV risk far outweigh the risk of developing T2D, especially in individuals with higher CV risk. To reduce the risk of developing T2D, physicians should assess all patients for T2D risk prior to starting statin therapy, educate patients about their risks, and encourage risk-reduction through lifestyle changes. Whether some statins are more diabetogenic than others requires further study. Statin-treated patients at high risk of developing T2D should regularly be monitored for changes in blood glucose or HbA1c levels, and the risk of conversion from pre-diabetes to T2D should be reduced by intensifying lifestyle changes. Should a patient develop T2D during statin treatment, physicians should continue with statin therapy and manage T2D in accordance with relevant national guidelines.


Asunto(s)
Anticolesterolemiantes/efectos adversos , LDL-Colesterol/sangre , Diabetes Mellitus Tipo 2/prevención & control , Inhibidores de Hidroximetilglutaril-CoA Reductasas/efectos adversos , Estado Prediabético/epidemiología , Adulto , Anticolesterolemiantes/administración & dosificación , Anticolesterolemiantes/farmacología , Anticolesterolemiantes/uso terapéutico , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/prevención & control , Estudios de Cohortes , Comorbilidad , Diabetes Mellitus Tipo 2/epidemiología , Diabetes Mellitus Tipo 2/etiología , Susceptibilidad a Enfermedades , Ayuno/sangre , Predicción , Hemoglobina A Glucada/análisis , Humanos , Inhibidores de Hidroximetilglutaril-CoA Reductasas/administración & dosificación , Inhibidores de Hidroximetilglutaril-CoA Reductasas/farmacología , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Masculino , Metaanálisis como Asunto , Persona de Mediana Edad , Estudios Multicéntricos como Asunto/estadística & datos numéricos , Estudios Observacionales como Asunto , Guías de Práctica Clínica como Asunto , Medición de Riesgo , Factores de Riesgo
8.
J Med Liban ; 58(2): 86-90, 2010.
Artículo en Francés | MEDLINE | ID: mdl-20549894

RESUMEN

Graves' ophthalmopathy is a debilitating disease impairing the quality of life of affected individuals. The management of moderate-to-severe active Graves' ophthalmopathy is a major therapeutic challenge, and the treatment outcome is often unsatisfactory. We have carried out a retrospective study to assess the efficacy of combined orbital irradiation and systemic corticosteroids. Ten patients were included; all patients had received 20 Grays to the retrobulbar tissues in ten fractions, and oral or intravenous glucocorticoids. The main therapeutic outcome measures were the criteria of Donaldson and co-workers and a self-assessment evaluation. The quality of life outcome was also evaluated by the GO-QOL (Graves' ophthalmopathy quality of life) questionnaire. Seven patients (70%) demonstrated improvement in ocular parameters; the response was excellent in three cases, good in three cases and fair in one case. Three patients showed no response to the treatment. The self-assessment evaluation showed that 75% of patients were satisfied with the results of the treatment. Proptosis was the most responsive sign to radiation and steroids. A duration of the eye disease of more than 18 months was associated with less improvement and a higher failure of the treatment. Concerning the quality of life, the score for visual fonctionning was 882 +/- 18.2 after treatment, while the score for appearance was 63.3 +/- 23.3. In conclusion, a combination of orbital irradiation and systemic steroids is associated with 70% of favorable responses, but the quality of life is not restored in the same proportions and remains impaired after treatment.


Asunto(s)
Oftalmopatía de Graves/terapia , Adulto , Femenino , Glucocorticoides/uso terapéutico , Humanos , Metilprednisolona/uso terapéutico , Calidad de Vida , Dosificación Radioterapéutica , Estudios Retrospectivos
9.
Hum Mutat ; 30(7): E682-91, 2009 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-19319977

RESUMEN

Autosomal dominant hypercholesterolemia (ADH), a major risk for coronary heart disease, is associated with mutations in the genes encoding the low-density lipoproteins receptor (LDLR), its ligand apolipoprotein B (APOB) or PCSK9 (Proprotein Convertase Subtilin Kexin 9). Familial hypercholesterolemia (FH) caused by mutation in the LDLR gene is the most frequent form of ADH. The incidence of FH is particularly high in the Lebanese population presumably as a result of a founder effect. In this study we characterize the spectrum of the mutations causing FH in Lebanon: we confirm the very high frequency of the LDLR p.Cys681X mutation that accounts for 81.5 % of the FH Lebanese probands recruited and identify other less frequent mutations in the LDLR. Finally, we show that the p.Leu21dup, an in frame insertion of one leucine to the stretch of 9 leucines in exon 1 of PCSK9, known to be associated with lower LDL-cholesterol levels in general populations, is also associated with a reduction of LDL-cholesterol levels in FH patients sharing the p.C681X mutation in the LDLR. Thus, by studying for the first time the impact of PCSK9 polymorphism on LDL-cholesterol levels of FH patients carrying a same LDLR mutation, we show that PCSK9 might constitute a modifier gene in familial hypercholesterolemia.


Asunto(s)
Mutación , Serina Endopeptidasas/genética , LDL-Colesterol/sangre , Codón sin Sentido , Salud de la Familia , Humanos , Hiperlipoproteinemia Tipo II , Líbano/epidemiología , Mutación Missense , Proproteína Convertasa 9 , Proproteína Convertasas , Receptores de LDL/genética , Serina Endopeptidasas/fisiología
10.
Eur J Endocrinol ; 155(1): 167-76, 2006 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-16793964

RESUMEN

OBJECTIVE: The relationships between adipocytokines, sex steroids and the GH/IGF-I axis is poorly studied and subject to controversy in healthy elderly male subjects. We investigated the association between both adiponectin and leptin, and the metabolic syndrome (MetS), lipid parameters, insulin sensitivity, sex steroids and IGF-I in healthy non-diabetic Lebanese men. DESIGN AND METHODS: In this cross-sectional study, a total of 153 healthy non-diabetic men aged 50 and above (mean age 59.3 +/- 7 years) had a detailed clinical and biological evaluation. Subjects were classified according to the National Cholesterol Education Program criteria of the MetS. Insulin sensitivity was determined by the Quantitative Insulin Sensitivity Check Index (QUICKI). RESULTS: Subjects with the MetS had lower adiponectin and higher leptin levels (P < 0.0001 for both variables) compared with individuals without the MetS. Adiponectin was significantly correlated with waist size, triglycerides, high-density lipoprotein (HDL) cholesterol and QUICKI (r = -0.33, -0.26, 0.45 and 0.36 respectively, P < 0.0001 for all variables). The relation between adiponectin and HDL cholesterol, triglycerides and QUICKI remained significant after adjustment for age and body mass index (BMI). Also, leptin was strongly correlated with waist size and QUICKI (r = 0.63 and -0.63 respectively, P < 0.001 for both variables). However, its relation to the lipid profile was weak (for cholesterol r = 0.16, P < 0.05; for triglycerides r = 0.17, P < 0.05) and disappeared after adjustment for BMI. Adiponectin was positively correlated with sex hormone-binding globulin (SHBG) (r = 0.39, P < 0.001) and inversely correlated with free-androgen index (r = -0.24, P < 0.01), estradiol and dehydroepiandrosterone sulfate (r = -0.165, P < 0.05; r = -0.21, P < 0.01 respectively). This difference remained significant for SHBG after adjustment for age and BMI (r = 0.20, P < 0.005). Finally, leptin was inversely correlated with total testosterone and SHBG (r = -0.44, P < 0.001; r = -0.30, P < 0.001 respectively); the relation with testosterone remained significant after adjustment for BMI. No significant relationship of either adiponectin or leptin with GH or IGF-I values was observed. In a stepwise multiple regression analysis, the independent predictors of adiponectin were HDL cholesterol, QUICKI, age and BMI (P < 0.0001, P = 0.005, P = 0.002 and P = 0.047 respectively) while for leptin, it was QUICKI, waist size and testosterone (P < 0.0001, P < 0.0001 and P = 0.004 respectively). The adjusted R2 values were 0.34 and 0.55. CONCLUSION: Our results show that in a healthy elderly male population, both adiponectin and leptin are related to insulin sensitivity, independent of age and BMI. While adiponectin is independently related to triglycerides and HDL cholesterol, the weak relationship of leptin to the lipid profile is completely mediated by BMI. In addition, and more interestingly, both adipocytokines are strongly associated with sex steroids. We speculate that SHBG is regulated by adiponectin and that there is an inhibitory effect of testosterone on the adiponectin gene. Further studies are needed to fully elucidate these relationships.


Asunto(s)
Adiponectina/sangre , Andrógenos/sangre , Hormona de Crecimiento Humana/fisiología , Leptina/sangre , Síndrome Metabólico/sangre , Adipocitos/metabolismo , Anciano , Biomarcadores , HDL-Colesterol/sangre , Citocinas/metabolismo , Humanos , Factor I del Crecimiento Similar a la Insulina/metabolismo , Líbano , Masculino , Valores de Referencia , Análisis de Regresión , Globulina de Unión a Hormona Sexual/metabolismo , Testosterona/sangre
11.
Clin Endocrinol (Oxf) ; 64(6): 652-8, 2006 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-16712667

RESUMEN

OBJECTIVE: The relationship between osteoprotegerin (OPG) and lipid profile, insulin sensitivity, adipocytokines and sex steroids has been poorly studied and subject to controversy. The purpose of this study was to look at the correlates of OPG in an elderly male population. DESIGN: One hundred and fifty-one nondiabetic, elderly Lebanese men (age range 50-83) were recruited in this cross-sectional study based on voluntary enrolment. MEASUREMENTS: In all the subjects, serum OPG levels were measured and related to clinical parameters (age, waist, body mass index (BMI), systolic and diastolic blood pressure), as well as to metabolic and hormonal parameters. The following fasting laboratory measurements were performed: plasma glucose and insulin levels, total cholesterol, triglycerides and HDL cholesterol, adiponectin, leptin, as well as sex steroids (testosterone, SHBG, free androgen index, ooestradiol, DHEAS), GH and IGF-1. QUICKI index was calculated as a measure of insulin sensitivity. RESULTS: OPG levels were significantly correlated with age (r = 0.28, P < 0.0001) but not with BMI, waist, systolic or diastolic blood pressure. There was a trend towards higher OPG levels in subjects without, compared to subjects with the metabolic syndrome (3.58 +/- 1.28 vs. 3.26 +/- 1.04 pmol/l, P = 0.09). OPG was negatively correlated with fasting glucose and triglyceride levels (r = -0.18, P = 0.031 and r = -0.19, P = 0.02, respectively) and positively correlated with the QUICKI index (r = 0.17, P = 0.033), HDL cholesterol (r = 0.21, P = 0.009) and adiponectin levels (r = 0.27, P = 0.001). No significant correlations were reported with total or LDL cholesterol levels and with leptin levels. After adjustment for age, OPG is still correlated with triglycerides (r = -0.19, P = 0.02), glucose (r = -0.21, P = 0.011) and adiponectin (r = 0.19, P = 0.02). Finally, OPG was positively associated with SHBG (r = 0.31, P < 0.001) and negatively associated with free androgen index (r =-0.346, P < 0.001); both correlations persisted after adjustment for age (r = 0.21, P = 0.009 and r = -0.23, P = 0.005, respectively). No significant correlation was found between OPG and oestradiol levels while a weak negative correlation was demonstrated with DHEAS (r = -0.18, P = 0.025). Also, no significant correlation was found between OPG and GH or IGF-1 values. In a multiple regression analysis with a stepwise model, the main determinants of OPG were free androgen index and adiponectin (P < 0.0001 and P = 0.015, respectively). CONCLUSION: Our results show that circulating OPG levels are favourably associated with some components of the metabolic syndrome. Also, for the first time, an association between OPG and adiponectin is described. Finally, the negative correlation we found between OPG and free androgen index may suggest a potential role of OPG in the increase in cardiovascular disease related to ageing and sex steroid deficiency.


Asunto(s)
Adiponectina/sangre , Glicoproteínas/sangre , Hormonas Esteroides Gonadales/sangre , Resistencia a la Insulina , Lípidos/sangre , Receptores Citoplasmáticos y Nucleares/sangre , Receptores del Factor de Necrosis Tumoral/sangre , Anciano , Biomarcadores/sangre , Enfermedad Coronaria/sangre , Humanos , Masculino , Síndrome Metabólico/sangre , Persona de Mediana Edad , Osteoprotegerina , Análisis de Regresión
12.
Am J Med Genet ; 108(1): 69-74, 2002 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-11857553

RESUMEN

Monozygotic twin brothers are described who share clinical features which include: moderate mental retardation, short stature, macrocephaly, frontal bossing, ptosis, low-set ears, brachydactyly, 5th fingers clinodactyly, single palmar creases, cryptorchidism, and prelingual sensorineural deafness. One of the twins presented with mild cardiac dilatation and died at age 3(1/2) from cardiac arrest during an episode of acute respiratory infection. While chromosome analyses performed for both twins on peripheral blood showed apparently normal karyotypes, screening for all telomeric regions on the surviving propositus revealed a combination of partial 6p trisomy and partial 11q monosomy. A balanced reciprocal translocation was found in the father. The phenotype of the twins is most likely related to this cryptic chromosomal rearrangement. The fact that the phenotype in this family partially overlaps with some previously reported phenotypes is discussed.


Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 11 , Cromosomas Humanos Par 6 , Anomalías Craneofaciales/genética , Enfermedades en Gemelos/genética , Translocación Genética , Niño , Preescolar , Anomalías Craneofaciales/etiología , Sordera/etiología , Sordera/genética , Enanismo/genética , Humanos , Hibridación Fluorescente in Situ , Lactante , Recién Nacido , Discapacidad Intelectual/etiología , Discapacidad Intelectual/genética , Deformidades Congénitas de las Extremidades/genética , Masculino , Telómero , Gemelos Monocigóticos/genética
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