Linkage disequilibrium between IDUA kpnI-VNTR haplotype in Mexican patients with MPS-I

BACKGROUND: The MPS-I is an autosomal recessive disorder caused by mutations in the IDUA gene that induce to a deficiency of glycosidase alpha-L-iduronidase that is required for degradation of heparan and dermatan sulfate. This disorder expresses a wide range of clinical symptoms. METHODS: Kpnl (K) and VNTR (V) intragenic polymorphisms at the IDUA gene were studied in mestizo and Huichol Indian Mexican populations as well in 13 MPS-I patients. Data from Australian normal and MPS-I (2-4) individuals were also studied. RESULTS: Genotypes for IDUA K and V sites in Mexicans were in agreement with Hardy-Weinberg expectations, except for site K in Huichols. Individually, allele frequency distributions were different (p < 0.05) in the two normal groups for the V site. K-V haplotype frequency distributions (HFDs) in these two normal groups were also different as compared with normal Australians. In Mexican MPS-I patients, HFD was different (p < 0.05) with respect to both Mexican normal groups, and non-different when compared with normal or MPS-I Australians. This can be taken as evidence of linkage disequilibrium between K-V polymorphism and MPS-I gene mutation(s) at the IDUA region. A similar finding was reported. However, disequilibrium in Mexicans was determined by haplotypes different from those in Australia. In Mexican MPS-I patients, haplotype K2-V1 is increased and K1-V3 decreased with respect to the Mexican mestizo (p < 0.05), while in Australians, MPS-I patients had an increase of haplotypes K2-V2 and K1-V2 with respect to expected frequency. CONCLUSIONS: The similar HFD between Mexican and Australian MPS-I patients suggests a common genetic origin, that MPS-I mutations were introduced to Mexico by Spaniards, and that such mutations predate the dispersion between Mexican and Australian Caucasian ancestors. The differences in disequilibrium are explained rather by genetic drift.     

Experimental intrahepatic portacaval anastomosis: use of expandable Gianturco stents

Original Gianturco expandable stents and their modifications were used to create an experimental intrahepatic portacaval anastomosis (EIPCA) in 30 young domestic swine without portal hypertension. The study focused on the design of a suitable stent, the technique of its application, and the evaluation of short-term patency of the EIPCA. A stent with a 2.5-cm-long body and wire skirts on both ends was most suitable for EIPCA creation. Well-positioned stents shunted most of the portal blood in the inferior vena cava circulation and remained patent for 4-6 weeks. Ingrowth of liver parenchyma and abundant proliferation of the intima and connective tissue inside the stent lumen in these rapidly growing animals gradually decreased EIPCA patency, and thrombus formation with diminished blood flow closed them completely.     

Amitriptyline action on sympathetic neuronal function in depressed women

1. Noradrenaline plasma levels and cardiovascular function modifications with orthostatic challenge during therapy were studied in 59 female depressed inpatients treated with 100 mg amitriptyline daily by intramuscular route for 4 weeks. 2. Therapy induced an increase in pulse rate in supine and upright positions, a decrease of noradrenaline levels and modified standing systolic and (partially) diastolic blood pressure, particularly in elderly subjects. 3. No correlation between neurotransmitter or functional changes and drug plasma levels was noted. 4. The supposed lower noradrenergic output together with blood pressure drop in both positions suggests a reduced sympathetic tone.     

小鼠脑缺血后的能量代谢改变和药物的作用

应用部分结扎小鼠颈总动脉(包括迷走神经)及小鼠断头法引起脑缺血后,脑组织的ATP和磷酸肌酸明显降低,乳酸明显升高。部分结扎颈动脉出现四肢无力、转圈及昏睡等症状,其严重程度与脑能量代谢改变相平行。皮下注射尼莫地平、硝苯吡啶、尼卡地平和三七皂甙对脑缺血有一定保护作用。苯巴比妥钠能改善正常和脑缺血小鼠的脑能量代谢,人参皂甙Rb₁可降低正常小鼠脑乳酸含量。     

Evidence that G-CSF is a fibroblast growth factor that induces granulocytes to increase phagocytosis and to present a mature morphology, and that macrophages secrete 45-kd molecules with these activities as well as with G-CSF-like activity.

Evidence is provided that conditioned medium from a macrophage-like cell line contains molecules of approximately 45 kd molecular weight with granulocyte colony-stimulating factor (G-CSF)-like activity as well as with the property of inducing granulocytes to phagocytose latex particles and to mature morphologically. This type of differentiation was found to be induced on either bone marrow or induced granulocytes, but not on resident or induced macrophages. On the other hand, resident but not induced macrophages are shown to induce these types of activities when challenged by bacterial lipopolysaccharides. Evidence that macrophages produce a factor that is mitogenic for fibroblasts is also provided. This activity was measured by the induction of increased proliferation by either low-density or saturated cultures of fibroblasts. Human recombinant G-CSF was employed and found also to possess these dual capabilities of inducing both the proliferation and differentiation of granulocytes as well as the proliferation of fibroblasts. Finally, a mechanism for the regulation of myeloid cell production and differentiation is described in which G-CSF produced by macrophages not only induces granulocytes to differentiate but induces fibroblasts to proliferate and secrete macrophage colony-stimulating factor (M-CSF), which in turn makes myeloid monocyte precursors proliferate and secrete more G-CSF.     

Acute renal failure due to ureteral obstruction in a kidney transplant recipient with Candida albicans contamination of preservation fluid

Abstract: Reported rates of positive preservation fluid cultures range from 5% to 23%, with fungi accounting for 2–10% of all positive cultures. We report the case of a kidney transplant recipient who received a graft with preservation fluid contaminated by Candida albicans , who developed acute renal failure due to ureteral obstruction by fungus balls. The patient was treated with voriconazole with complete restoration of graft function. This rare clinical entity demonstrates the usefulness of pre-transplant cultures of preservation fluid, in order to identify a group of patients who could benefit from antifungal prophylaxis therapy and thereby prevent the need for graft nephrectomy.     

Neurologic development of children at age two who had been treated at a neonatal intensive care unit]

The principal objective of this study was to evaluate, at 2 years of age, the neurological development of a group of children who had been treated in the neonatal intensive care unit (NICU) of the National Institute of Perinatology of Mexico. All the children born between 1 January 1992 and 31 December 1993 who had entered the NICU and stayed for 3 or more days were studied from the neurological, psychological, auditory, linguistic, motor, and neuromuscular standpoint. This group included 134 patients, who had had an average gestational age of 32 weeks and an average birth-weight of 1,677 g. They had stayed in the hospital an average of 51 days, and 75% of them had undergone artificial respiration. In the examination done at age 2, 66.5% of the children were normal and 8.2% had serious impairments. There were statistically significant associations between their neurological condition and the days of artificial respiration (P < 0.0001), the days spent in the NICU (P < 0.000004), and the gestational age in weeks (P < 0.03). There was no association between the children's sex and the results of the assessments. The study results showed a decrease in neural abnormalities in comparison with the results obtained in similar studies 10 years earlier.