Factores de riesgo para osteoporosis en mujeres posmenopáusicas de Guadalajara, Jalisco / Risk factors for osteoporosis in postmenopausal women from Guadalajara, Jalisco

Objetivo. Conocer los factores de riesgo y la frecuencia de osteoporosis (OP) en mujeres posmenopáusicas. Material y métodos. Se midió la densidad mineral ósea de columna en 513 mujeres posmenopáusicas de un hospital de Guadalajara, Jalisco durante 2007-2008. Los puntos de corte de las variables asociadas se obtuvieron por curvas ROC y la razón de momios (RM) mediante regresión logística. Resultados. El 25.2% (IC95% 21.44-28.96) de las mujeres mostró OP. Las variables asociadas a OP y sus puntos de corte fueron: edad >60 años, peso <71kg, talla <1.54m e IMC <29.2kg/m², con RM mayores a 3.19 (p<0.0001). Conclusiones. Se recomienda establecer puntos de corte para estimar factores de riesgo para OP con mayor precisión en cada población.

Objective. To know risk factors and the frequency of osteoporosis (OP) in postmenopausal women. Materials and methods. Bone mineral density was measured in lumbar spine of 513 postmenopausal women from a hospital of Guadalajara, Jalisco during 2007-2008. The cutoff points of the associated variables were obtained by ROC curves and odds ratio (OR) by logistic regression. Results. The 25.2% (95%CI 21.44-28.96) of the women was OP. The variables associated with OP and cutoff points were age >60 years, weight <71kg, height <1.54m and BMI <29.2kg/m², with OR greater than 3.19 (p<0.0001). Conclusions. It is recommended setting cutoff points to estimate risk factors for OP more accurately in each population.

[Risk factors for osteoporosis in postmenopausal women from Guadalajara, Jalisco]. / Factores de riesgo para osteoporosis en mujeres posmenopáusicas de Guadalajara, Jalisco.

OBJECTIVE: To know risk factors and the frequency of osteoporosis (OP) in postmenopausal women. MATERIALS AND METHODS: Bone mineral density was measured in lumbar spine of 513 postmenopausal women from a hospital of Guadalajara, Jalisco during 2007-2008. The cutoff points of the associated variables were obtained by ROC curves and odds ratio (OR) by logistic regression. RESULTS: The 25.2% (95%CI 21.44-28.96) of the women was OP. The variables associated with OP and cutoff points were age >60 years, weight <71 kg, height <1.54 m and BMI <29.2 kg/m(2), with OR greater than 3.19 (p<0.0001). CONCLUSIONS: It is recommended setting cutoff points to estimate risk factors for OP more accurately in each population.

HB Fannin-Lubbock-I with a single GGC>GAC mutation at beta119(GH2)Gly-->Asp in a homozygous Mexican patient.

We studied a fast-moving, abnormal hemoglobin (Hb) identified as Fannin-Lubbock-I [beta119(GH2)Gly-->Asp] in a homozygous Mexican girl. To date, homozygosity for the Hb Fannin-Lubbock-I variant has not been reported. Her parents and five other relatives were heterozygotes. The 5' beta-globin haplotype analysis showed that the mutation was associated with haplotype 2 [- + + - +]for the epsilon, (G)gamma, (A)gamma, 5' and 3 'psibeta-globin sites, and also segregated with the TGTTC haplotype, which was constructed with five polymorphic sites of the beta-globin gene [exon 1-nucleotide (nt) 6 (C>T) and IVS-II-16 (C>G), IVS-II-46 (T>C), IVS-II-74 (G>T), and IVS-II-81 (C>T). In 1994, a variant with an additional mutation at codon 111 [beta111(G13)Val-->Leu] was described in five Spanish families. This variant was termed Hb Fannin-Lubbock-II, and the question of the existence of Hb Fannin-Lubbock-I arose. However, based on our findings, we were able to confirm the existence of Hb Fannin-Lubbock-I and propose that this mutation has a different origin from the one identified in Spanish families.

Molecular spectrum of beta-thalassemia in the Mexican population.

Beta-thalassemia (beta-thal) is present in 59% and 75% of patients with abnormal hemoglobin disorders in northwestern and central Mexico, respectively. In our Research Center, up until 1997, we reported the presence of 13 beta-thal alleles in 26 unrelated chromosomes (-28A>C; -87C>T; MET1VAL; IVS1, G>A, +1; IVS1, G>A, +5; IVS1, G>C, +5; IVS1, G>A, +110; IVS2, C>G, +745; GLU6FS; VAL11FS; GLN39TER; HBD/HBB 104 kb del; and HBD87/HBB116 fusion). Since then, 57 more beta-thal chromosomes have been identified by the amplification-refractory mutation system (ARMS) and DNA sequencing from 54 individuals with beta-thalassemia (seven compound heterozygotes, three with two beta-thal alleles, three with beta-thal and HbS, and one with beta-thal and HbD; and 47 beta-thal heterozygotes). Nine of the previously observed alleles were found, together with three new alleles: IVS2, G>A, +1; LYS17TER; and 4-bp del, 41/42CTTT. Moreover, a novel mutation was observed, HIS77FS, bringing to a total of 17 beta-thal alleles identified in our population. Six alleles constitute 78.3% of the observed alleles: five Mediterranean alleles (GLN39TER; IVS1, G>A, +1; IVS1, G>A, +110; HBD/HBB 104 kb del; and IVS1, G>A, +5) and one common in the Kurdish population (-28A>C). We note especially the presence in these families of -28A>C and VAL11FS, both of which have previously been considered private alleles. The observed spectrum of mutations is characteristic of populations with low frequencies of thalassemias. Because thalassemia is not a rare disease in Mexico, we emphasize its necessary consideration in the differential diagnosis of microcytic hypochromic anemia.

Red cell membrane protein deficiencies in Mexican patients with hereditary spherocytosis.

Twenty-seven families and four individual patients with hereditary spherocytosis (HS) from the northwestern region of Mexico were studied. An autosomal dominant inheritance pattern was identified in 59% of 22 families. Densitometric analysis of erythrocyte membrane proteins revealed individual protein deficiencies in 39% of the patients studied, in whom the principal altered proteins were the alpha spectrins (13%), band 3 protein (10%), ankyrin (6%), 4.2 protein (6%), and the beta spectrins (3%). A predominant deficiency of spectrins has also been observed in other Latin American and Mediterranean countries. However, it is well known that deficiencies in these proteins are heterogeneous across different ethnic groups. A combined protein deficiency was observed in 52% of patients, most frequently involving the spectrins, band 3 protein, 4.2 protein, and 4.1 protein. In three subjects, no abnormalities were detected (10%). We conclude that, despite the observed heterogeneity, the principal affected proteins are essentially similar to those observed in other ethnic groups.