Лекции по медицинской генетике

ГЕНЕТИКА МЕДИЦИНСКАЯГЕННЫЕ БОЛЕЗНИМЕДИКО-ГЕНЕТИЧЕСКИЕ ИССЛЕДОВАНИЯНАСЛЕДСТВЕННОСТЬНАСЛЕДСТВЕННЫЕ БОЛЕЗНИУЧЕБНЫЕ ПОСОБИЯХРОМОСОМНЫЕ БОЛЕЗНИВ учебном пособии рассматриваются основные разделы медицинской генетики, знание которых необходимо для врачей общей медицинской практики, а также терапевтов, невропатологов, психиатров и др.: организация медико-генетической помощи; методы медико-генетического обследования и пренатальной диагностики; молекулярные основы наследственных заболеваний; классификация наследственных болезней; хромосомные болезни; наследственные болезни нервной системы; основы лечения и профилактики наследственных болезне

Determinants of quality of life in adults with type 1 and type 2 diabetes

Limited evidence exists on the determinants of quality of life (QoL) specific to adults with type 1 diabetes (T1D). Further, it appears no study has compared the determinants of QoL between T1D and type 2 diabetes (T2D) groups. The objectives of this study were to examine: (1) determinants of QoL in adults with T1D; and, (2) differences in QoL determinants between T1D and T2D groups. The Alberta Longitudinal Exercise and Diabetes Research Advancement (ALEXANDRA) study, a longitudinal study of adults with diabetes in Alberta, Canada. Adults (18 years and older) with T1D (N = 490) and T2D (N = 1,147) provided information on demographics (gender, marital status, education, and annual income), personality (activity trait), medical factors (diabetes duration, insulin use, number of comorbidities, and body mass index), lifestyle behaviors (smoking habits, physical activity, and diet), health-related quality of life (HRQL) and life satisfaction. Multiple regression models identified determinants of HRQL and life satisfaction in adults with T1D. These determinants were compared with determinants for T2D adults reported in a previous study from this population data set. Factors significantly associated with HRQL and life satisfaction in either T1D or T2D groups were further tested for interaction with diabetes type. In adults with T1D, higher activity trait (personality) score (β = 0.28, p < 0.01), fewer comorbidities (β = -0.27, p < 0.01), lower body mass index (BMI)(β = -0.12, p < 0.01), being a non-smoker (β = -0.14, p < 0.01), and higher physical activity levels (β = 0.16, p < 0.01) were associated with higher HRQL. Having a partner (β = 0.11, p < 0.05), high annual income (β = 0.16, p < 0.01), and high activity trait (personality) score (β = 0.27, p < 0.01) were significantly associated with higher life satisfaction. There was a significant age × diabetes type interaction for HRQL. The T2D group had a stronger positive relationship between advancing age and HRQL compared to the T1D group. No interaction was significant for life satisfaction. Health services should target medical and lifestyle factors and provide support for T1D adults to increase their QoL. Additional social support for socioeconomically disadvantaged individuals living with this disease may be warranted. Health practitioners should also be aware that age has different effects on QoL between T1D and T2D adults

Degree of Ultraviolet-Induced Tortuosity of Elastic Fibers in Rat Skin Is Age Dependent

To elucidate differential effects of ultraviolet (UV) exposure on three-dimensional networks of elastic fibers during maturation of rat skin, Sprague-Dawley rat hind limbs were irradiated with suberythemal doses of UV light (UVB, 130 mJ/cm2, or UVA, 27 J/cm2) in three different time courses of exposure: 3–9 weeks old, 9–15 weeks old, and 3–15 weeks old. Three-dimensional arrangement with special reference to linearity of elastic fibers was quantified by image analysis using a scanning electron microscope after a combination of intravascular resin injection and selective digestion technique using formic acid. Among the three irradiation groups, the group irradiated with UVB or UVA between 3 and 15 weeks old (UVB, three times per week; UVA, five times per week) elicited the most marked decrease in the linearity of elastic fibers. Despite the same irradiation period, there was a significant difference in the decreased linearity between the two irradiation groups of 3–9 and 9–15 weeks old, with the former irradiation group exhibiting greater loss of linearity than the latter irradiation group. The magnitude of the decreased linearity was greater in the UVB-exposed groups than in the UVA-exposed group. These findings indicate that the three-dimensional linearity of elastic fibers is more susceptible to disruption by UV exposures during the growth period than that after the growth period

A new way to describe the transition characteristics of a rotating-disk boundary-layer flow

A new method of graphically representing the transition stages of a rotating-disk flow is presented. The probability density function contour map of the fluctuating azimuthal disturbance velocity is used to show the characteristics of the boundarylayer flow over the rotating disk as a function of Reynolds numbers. Compared with the variation of the disturbance amplitude (rms) or spectral distribution, this map more clearly shows the changing flow characteristics through the laminar, transitional, and turbulent regions. This method may also be useful to characterize the different stages in the transition process not only for the rotating-disk flow but also for other flows.Swedish Research Counci

Independent and Combined Effects of Dietary Weight Loss and Exercise on Leukocyte Telomere Length in Postmenopausal Women

Objective: Investigate the effects of 12 months of dietary weight loss and/or aerobic exercise on leukocyte telomere length in postmenopausal women. Design and Methods 439 overweight or obese women (50–75 y) were randomized to: i) dietary weight loss (N=118); ii) aerobic exercise (N=117), iii) diet + exercise (N=117), or iv) control (N=87). The diet intervention was a group-based program with a 10% weight loss goal. The exercise intervention was 45 mins/day, 5 days/week of moderate-to-vigorous aerobic activity. Fasting blood samples were taken at baseline and 12 months. DNA was extracted from isolated leukocytes and telomere length was measured by quantitative-polymerase chain reaction (qPCR). Mean changes were compared between groups (intent-to-treat) using generalized estimating equations. Results: Baseline telomere length was inversely associated with age (r=−0.12 p<0.01) and positively associated with maximal oxygen uptake (r=0.11, p=0.03), but not with BMI or %body fat. Change in telomere length was inversely correlated with baseline telomere length (r=−0.47, p<0.0001). No significant difference in leukocyte telomere length was detected in any intervention group compared to controls, nor was the magnitude of weight loss associated with telomere length at 12 months. Conclusions: Twelve-months of dietary weight loss and exercise did not change telomere length in postmenopausal women

Mid-crustal deformation of the Annapurna-Dhaulagiri Himalaya, central Nepal: An atypical example of channel flow during the Himalayan orogeny

The channel-flow model for the Greater Himalayan Sequence (GHS) of the Himalayan orogen involves a partially molten, rheologically weak, mid-crustal layer “flowing” southward relative to the upper and lower crust during late Oligocene–Miocene. Flow was driven by topographic overburden, underthrusting, and focused erosion. We present new structural and thermobarometric analyses from the GHS in the Annapurna-Dhaulagiri Hima­laya, central Nepal; these data suggest that during exhumation, the GHS cooled, strengthened, and transformed from a weak “active channel” to a strong “channel plug” at greater depths than elsewhere in the Himalaya. After strengthening, continued convergence resulted in localized top-southwest (top-SW) shortening on the South Tibetan detachment system (STDS). The GHS in the Annapurna-Dhaulagiri Himalaya displays several geological features that distinguish it from other Himalayan regions. These include reduced volumes of leucogranite and migmatite, no evidence for partial melting within the sillimanite stability field, reduced structural thickness, and late-stage top-southwest shortening in the STDS. New and previously published structural and thermobarometric constraints suggest that the channel-flow model can be applied to mid-Eocene–early Miocene mid-crustal evolution of the GHS in the Annapurna-Dhaulagiri Himalaya. However, pressure-temperature-time (PTt) constraints indicate that following peak conditions, the GHS in this region did not undergo rapid isothermal exhumation and widespread sillima­nite-grade decompression melting, as commonly recorded elsewhere in the Hima­laya. Instead, lower-than-typical structural thickness and melt volumes suggest that the upper part of the GHS (Upper Greater Himalayan Sequence [UGHS]—the proposed channel) had a greater viscosity than in other Hima­layan regions. We suggest that viscosity-limited, subdued channel flow prevented exhumation on an isothermal trajectory and forced the UGHS to exhume slowly. These findings are distinct from other regions in the Himalaya. As such, we describe the mid-crustal evolution of the GHS in the Annapurna-­Dhaulagiri Himalaya as an atypical example of channel flow during the Himalayan orogeny