65 research outputs found

    Biochemical and molecular studies of 132 patients with galactosemia

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    We evaluated 132 galactosemia patients for the Q188R (glutamine-188 to arginine) mutation in the human galactose-1-phosphate uridyltransferase (GALT) gene and for GALT activity in their hemolysates by a sensitive radioisotopic method. In those without any detectable GALT activity (GG), the Q188R mutation constituted 67% of the alleles. In patients with detectable GALT activity (GV), only 16% of the alleles were accounted for by Q188R. In all patients who were homozygous for the Q188R mutation, no erythrocyte GALT activity could be demonstrated. There was an extensive variation in the amount of detectable GALT activity ranging from 0.1% to 5% of the normal values among the GV patients. There was a difference in the frequency of Q188R mutation in the GALT alleles among patients belonging to different racial and ethnic groups. In Caucasian and Hispanic patients, the frequency was not far different (64% and 58%, respectively). On the other hand, only 12% of the GALT alleles with Q188R were found in African-American patients.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/47637/1/439_2004_Article_BF00201593.pd

    Threshold-based insulin-pump interruption for reduction of hypoglycemia

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    *Q1Artículo original224-232Background The threshold-suspend feature of sensor-augmented insulin pumps is designed to minimize the risk of hypoglycemia by interrupting insulin delivery at a preset sensor glucose value. We evaluated sensor-augmented insulin-pump therapy with and without the threshold-suspend feature in patients with nocturnal hypoglycemia. Methods We randomly assigned patients with type 1 diabetes and documented nocturnal hypoglycemia to receive sensor-augmented insulin-pump therapy with or without the threshold-suspend feature for 3 months. The primary safety outcome was the change in the glycated hemoglobin level. The primary efficacy outcome was the area under the curve (AUC) for nocturnal hypoglycemic events. Two-hour threshold-suspend events were analyzed with respect to subsequent sensor glucose values. Results A total of 247 patients were randomly assigned to receive sensor-augmented insulinpump therapy with the threshold-suspend feature (threshold-suspend group, 121 patients) or standard sensor-augmented insulin-pump therapy (control group, 126 patients). The changes in glycated hemoglobin values were similar in the two groups. The mean AUC for nocturnal hypoglycemic events was 37.5% lower in the thresholdsuspend group than in the control group (980±1200 mg per deciliter [54.4±66.6 mmol per liter]×minutes vs. 1568±1995 mg per deciliter [87.0±110.7 mmol per liter]×minutes, P<0.001). Nocturnal hypoglycemic events occurred 31.8% less frequently in the threshold-suspend group than in the control group (1.5±1.0 vs. 2.2±1.3 per patientweek, P<0.001). The percentages of nocturnal sensor glucose values of less than 50 mg per deciliter (2.8 mmol per liter), 50 to less than 60 mg per deciliter (3.3 mmol per liter), and 60 to less than 70 mg per deciliter (3.9 mmol per liter) were significantly reduced in the threshold-suspend group (P<0.001 for each range). After 1438 instances at night in which the pump was stopped for 2 hours, the mean sensor glucose value was 92.6±40.7 mg per deciliter (5.1±2.3 mmol per liter). Four patients (all in the control group) had a severe hypoglycemic event; no patients had diabetic ketoacidosis. Conclusions This study showed that over a 3-month period the use of sensor-augmented insulinpump therapy with the threshold-suspend feature reduced nocturnal hypoglycemia, without increasing glycated hemoglobin values. (Funded by Medtronic MiniMed; ASPIRE ClinicalTrials.gov number, NCT01497938.

    WHO Air Quality Guidelines 2021-aiming for healthier air for all: a joint statement by medical, public health, scientific societies and patient representative organisations

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    [Extract] After years of intensive research and deliberations with experts across the globe, the World Health Organization (WHO) updated its 2005 Global Air Quality Guidelines (AQG) in September 2021 [1, 2]. The new air quality guidelines (WHO AQG) are ambitious and reflect the large impact that air pollution has on global health. They recommend aiming for annual mean concentrations of PM2.5 not exceeding 5 µg/m3 and NO2 not exceeding 10 µg/m3, and the peak season mean 8-hr ozone concentration not exceeding 60 µg/m3 [1]. For reference, the corresponding 2005 WHO guideline values for PM2.5 and NO2 were, respectively, 10 µg/m3 and 40 µg/m3 with no recommendation issued for long-term ozone concentrations [3]. While the guidelines are not legally binding, we hope they will influence air quality policy across the globe for many years to come

    Peasant settlers and the ‘civilizing mission’ in Russian Turkestan, 1865-1917

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    This article provides an introduction to one of the lesser-known examples of European settler colonialism, the settlement of European (mainly Russian and Ukrainian) peasants in Southern Central Asia (Turkestan) in the late nineteenth and early twentieth centuries. It establishes the legal background and demographic impact of peasant settlement, and the role played by the state in organising and encouraging it. It explores official attitudes towards the settlers (which were often very negative), and their relations with the local Kazakh and Kyrgyz population. The article adopts a comparative framework, looking at Turkestan alongside Algeria and Southern Africa, and seeking to establish whether paradigms developed in the study of other settler societies (such as the ‘poor white’) are of any relevance in understanding Slavic peasant settlement in Turkestan. It concludes that there are many close parallels with European settlement in other regions with large indigenous populations, but that racial ideology played a much less important role in the Russian case compared to religious divisions and fears of cultural backsliding. This did not prevent relations between settlers and the ‘native’ population deteriorating markedly in the years before the First World War, resulting in large-scale rebellion in 1916

    Lessons learned from the HEALTHY primary prevention trial of risk factors for type 2 diabetes in middle school youth

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    The HEALTHY trial was designed to take a primary prevention approach to risk factors for type 2 diabetes in youth, primarily obesity. The study involved over 6000 students at 42 middle schools across the US. Half received an integrated intervention program of components addressing the school food environment, physical education, lifestyle behaviors, and promotional messaging. The intervention was designed to be more comprehensive than previous efforts and the research was amply funded. Though the primary objective of reducing percent overweight and obese in schools that received the intervention program compared to control schools was not obtained, key secondary outcomes indicated an intervention effect. In retrospect, senior investigators involved in the study’s design, conduct, and analysis discuss weaknesses and strengths, and offer recommendations for future research efforts that address prevention of childhood obesity from a public health perspective
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