[Polymorphism of the gene for vitamin D receptor, bone mass, and bone turnover in women with postmenopausal osteoporosis]. / Polimorfismo del gen del receptor de la vitamina D, masa ósea y recambio óseo en mujeres con osteoporosis postmenopáusica.

OBJECTIVE: To analyze which genotypes of vitamin D receptor (VDR) are associated with the loss or maintenance of bone mass among spanish postmenopausal women. MATERIAL AND METHODS: A total of 105 women with postmenopausal osteoporosis and 51 postmenopausal women without osteoporosis (control group), diagnosed with bone densitometry (DEXA) were included in the study. The genetic locus was analyzed with RFLP by using the restriction enzyme BsmI. The obtained polymorphism was correlated with clinical, densitometric and metabolic parameters (including bone turnover markers). RESULTS: Two alleles were obtained with three bands of different size: one 580-570 bp band corresponding to allele B, and two 405-400 and 175-170 bp bands for allele b. None of the three VDR genotypes (BB, bb, Bb) was significantly associated with a higher or lower bone mass among the studied populations. Likewise, in the group of patients with osteoporosis no genotype was associated with bone mineral density (BMD) values or with bone turnover parameters analyzed. No differences were found between subgroups with non-severe (n = 58) and severe (n = 47) osteoporosis regarding the association with any of the three VDR genotypes. CONCLUSIONS: None of the VDR genotypes was associated with BMD loss or with the activity of bone turnover parameters analyzed in a group of spanish women with postmenopausal osteoporosis. None of the VDR genotypes confers a higher susceptibility to suffer from severe osteoporosis.

Polimorfismo del gen del receptor de la vitamina D, masa ósea y recambio óseo en mujeres con osteoporosis postmenopáusica / Polymorphism of vitamin D receptor gene, bone mass, and bone turnover among women with postmenopausal osteoporosis

Objetivo. Hemos analizado si alguno de los genotipos del receptor de la vitamina D (VDR) puede asociarse con la pérdida o el mantenimiento de la masa ósea en las mujeres postmenopáusicas españolas. Material y métodos. En el estudio se incluyeron 105 mujeres con osteoporosis postmenopáusica y 51 postmenopáusicas sin osteoporosis como grupo control diagnosticadas por densitometría ósea (DEXA). El locus genético se analizó por estudio de polimorfismo de restricción (RFLP) con la enzima de restricción BsmI. Se correlacionó el polimorfismo obtenido con parámetros clínicos, densitométricos y metabólicos (incluyendo marcadores de recambio óseo).Resultados. Se obtuvieron dos alelos que producían tres bandas de diferente tamaño: una de 580-570 pb correspondiente al alelo B y dos de 405-400 pb y 175-170 pb para el alelo b. Ninguno de los tres genotipos del VDR (BB, bb, Bb) se asoció de forma significativa con una mayor o menor masa ósea en las poblaciones estudiadas. Dentro del grupo con osteoporosis tampoco ningún genotipo se asoció con los valores de la densidad mineral ósea (DMO) ni con el de los parámetros de recambio óseo analizados. No hubo diferencias entre los subgrupos osteoporosis no severa (n = 58) y severa (n = 47) en cuanto a la asociación con cualquiera de los tres genotipos del VDR. Conclusiones. Ninguno de los genotipos del VDR se asoció con la pérdida de DMO ni con la actividad de los parámetros de recambio óseo estudiados en un grupo de población de mujeres españolas con osteoporosis postmenopáusica. Ninguno de los genotipos del VDR confiere mayor susceptibilidad a sufrir una osteoporosis severa (AU)

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[Hepatopulmonary syndrome and pulmonary perfusion scan]. / Síndrome hepatopulmonar y gammagrafía de perfusión pulmonar.

We introduce you a case report of a female patient who has got a chronic liver disease and who entered our hospital with clinical suspicion of pulmonary embolism. The radionuclide lung perfusion scan using 99m Technetium-labelled with macroaggregated albumin, showed an abnormal uptake out of the lungs in liver, spleen, and kidneys. Once all possible etiologies of extrapulmonary uptake were excluded and confirming that the hepatopulmonary syndrome clinical criteria were coincident with our case, we attribute that the abnormal extrapulmonary uptake was explainable due to this syndrome. This is an hepatopulmonary syndrome case in which nuclear medicine techniques were decisive for the diagnosis in front of other diagnostic tests (radiography, echography and CT) that gave valuable but non conclusive information.