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RISS 인기검색어
- 검색키워드
- 저자 : ( Fernando J Lavalle Gonzalez ) (검색결과 2 건)
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( Roberto Monreal Robles ),( Hugo L Gallardo Blanco ),( Fernando J Lavalle Gonzalez ),( Ricardo M Cerda Flores ),( Pavel Carrillo Molina ),( Minerva G Martinez Cavazos ),( Laura E Martinez Garza ),( J 대한내과학회 2014 대한내과학회 추계학술대회 Vol.2014 No.1
Background: Currently there are a growing number of individuals with type 2 diabetes (T2D) imposing a signifi cant public health burden due to disability and premature death. Diabetes is the most common cause of death in Mexico. It is estimated that 11.7 million Mexicans will have diabetes by the year 2025. The risk of developing T2D is determined by genetic and environmental factors. However, large differences in prevalence between ethnic groups exist and seem to depend on genetic factors. Nearly 40 different T2D susceptibility loci, mainly in Europeans have been identifi ed. The aim of this study was to identify susceptibility loci related to T2D in our population. Methods: We studied 128 SNPs in or near 42 genes, most of which had been replicated in other populations. A case-control association study comprising 186 controls, 211 early-onset T2D (diagnosed before 45 years of age) and 173 late-onset T2D individuals was conducted. Actually we preliminary reported the genotypifi cation analyses of 256 individuals. Results: Subjects with T2D independently of age at diagnosis have higher mass body index than controls (27.5 vs 25.7 kg/m2, P= <0.0001). The median age for early-onset T2D, late-onset T2D and controls individuals were 46, 61 and 62 years, respectively. Age at diagnosis for early-onset and late-onset T2D individuals was 35 and 52 years, respectively. The allelic variants of genes KCNJ11 (rs5219), LEPR (rs11208654), IGF2BP2 (rs4402960), VLDLR (rs2242103), KCNQ1 (rs2237892), RPTOR (rs12946115), SLC25A18 (rs1296819) show association with T2D in this preliminary analysis. These polymorphism previously mentioned affect directly or indirectly over insulin release and peripheral sensitivity. Conclusions: We found our population to have an important genetic predisposition to T2D. The associated susceptibility loci for T2D support the hypothesis that insulin release defects and peripheral resistance are the main mechanisms predisposing to T2D in Mexican population.
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( Rene Rodriguez Gutierrez ),( Karla V Rodriguez Velver ),( Maria Azucena Zapata Rivera ),( Roberto Monreal Robles ),( Fernando J Lavalle Gonzalez ),( Jose G Gonzalez Gonzalezz ),( Jesus Zacarias Vill 대한내과학회 2014 대한내과학회 추계학술대회 Vol.2014 No.1
Background and Case Presentation: Cystic prolactinomas correspond to = 1% of all prolactinomas and its association with a giant pituitary macroadenoma in a woman has been seldom reported. A 43-year old woman was evaluated for a suprasellar tumor. She had absence of menses since 2 years. Three months before she started to have progressive headache. She also referred asthenia, adynamia, fatigue, dry hairiness, decreased libido, vaginal atrophy, and chronic constipation. Hair in armpits and pubic area was insignificant and osteotendinous reflex relaxation phase was slow. Galactorrhea was absent and presented bitemporal hemianopsia. Diagnostic and Therapeutic Approach: MRI scan revealed a 5 x 3.5 cm suprasellar mass and a 8.1 x 3.6 cm cystic component (Figures 1-3). Cortisol level 2.2 mg/dl, FSH and LH were low, estradiol < 0.05 pg/mL, IGF-1 normal and a serum prolactin of 125 ng/mL. Serial dilutions 1:10 and 1:100 were made. Diluted prolactine was 12,500 ng/mL (hook effect). Treatment with cabergoline, prednisone and levothyroxine were initiated. At two months follow-up prolactin serum levels decreased to 32.1 ng/mL. Discussion and Conclusion: A systemic research on PubMed, Medline, Embase and MedConsult with the search criteria: “Giant Cystic Prolactinoma”, “prolactin”, “prolactioma and “hook effect” was made. Due to the clinical signs of hypogonadism, the image in the MRI and the low/moderate high serum prolactin levels serial dilutions of prolactin were made. Serum prolactin assays can greatly underestimate extremely high levels of hormone, the so called “hook effect”. In present case, a high level of suspicion along with low/moderate prolactin levels and the MRI image consistent with a pituitary adenoma made us ask for diluted prolactin samples. If missed, this would have delayed the diagnosis and consequently would have changed the treatment plan and prognosis of the patient.
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