A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex

Abstract Background Tuberous sclerosis complex (TSC) is a rare multisystem disorder caused by mutations in the TSC1 or TSC2 gene. More than 90% of patients with TSC develop neurological and/or neuropsychiatric manifestations. The aim of the present study was to determine the developmental and cognitive long-term outcomes of pediatric TSC patients. Methods This cross-sectional, monocenter study included pediatric TSC patients who received multidisciplinary long-term care with a last visit between 2005 and 2019. Neurological manifestations and cognitive development (BSID, K-ABC) were analyzed in relation to age and type of mutation. Results Thirty-five patients aged 13.5 ± 7.8 years were included in the study. Diagnosis was confirmed genetically in 65.7% of patients (TSC1, 26.1%; TSC2, 65.2%; NMI, 8.7%). Mean age at diagnosis was 1.3 ± 3.5 years; 74.3% of the patients had been diagnosed within the first year of life due to seizures (62.9%) or/and cardiac rhabdomyomas (28.6%). The most common TSC manifestations included structural brain lesions (cortical tubers, 91.4%; subependymal nodules, 82.9%), epilepsy (85.7%), and cardiac rhabdomyomas (62.9%). Mean age at seizure onset was 1.5 ± 2.3 years, with onset in 80.0% of patients within the first two years of life. Infantile spasms, which were the first seizure type in 23.3% of the patients, developed earlier (0.6 ± 0.4 years) than focal seizures (1.8 ± 2.5 years). Refractory epilepsy was present in 21 (70.0%) patients, mild or severe intellectual impairment in 66.6%, and autism spectrum disorders in 11.4%. Severe cognitive impairment (33.3%) was significantly associated with epilepsy type and age at seizure onset (p &lt; 0.05). Conclusions The results emphasized the phenotypic variability of pediatric-onset TSC and the high rate of neurological and neuropsychiatric morbidity. Early-onset refractory epilepsy was associated with impaired cognitive development. Children of all ages with TSC require multidisciplinary long-term care and individual early-intervention programs. </jats:sec

Разработка интерактивной моделирующей системы технологии низкотемпературной сепарации газа

We present a study of J ψ meson production in collisions of 26.7 GeV electrons with 820 GeV protons, performed with the H1-detector at the HERA collider at DESY. The J ψ mesons are detected via their leptonic decays both to electrons and muons. Requiring exactly two particles in the detector, a cross section of σ(ep → J ψ X) = (8.8±2.0±2.2) nb is determined for 30 GeV ≤ W γp ≤ 180 GeV and Q 2 ≲ 4 GeV 2 . Using the flux of quasi-real photons with Q 2 ≲ 4 GeV 2 , a total production cross section of σ ( γp → J / ψX ) = (56±13±14) nb is derived at an average W γp =90 GeV. The distribution of the squared momentum transfer t from the proton to the J ψ can be fitted using an exponential exp(− b ∥ t ∥) below a ∥ t ∥ of 0.75 GeV 2 yielding a slope parameter of b = (4.7±1.9) GeV −2

A Measurement of the Proton Structure Function F ⁣2(x,Q2)F_{\!2}(x,Q^2)

A measurement of the proton structure function $F_{\!2}(x,Q^2)$ is reported for momentum transfer squared $Q^2$ between 4.5 $GeV^2$ and 1600 $GeV^2$ and for Bjorken $x$ between $1.8\cdot10^{-4}$ and 0.13 using data collected by the HERA experiment H1 in 1993. It is observed that $F_{\!2}$ increases significantly with decreasing $x$, confirming our previous measurement made with one tenth of the data available in this analysis. The $Q^2$ dependence is approximately logarithmic over the full kinematic range covered. The subsample of deep inelastic events with a large pseudo-rapidity gap in the hadronic energy flow close to the proton remnant is used to measure the "diffractive" contribution to $F_{\!2}$.Comment: 32 pages, ps, appended as compressed, uuencoded fil

Этимологический анализ специальных единиц лексико-семантического поля "интеллектуальные энергетические системы" в системе современного английского языка

В данной статье описываются результаты этимологического анализа лексико-семантического поля "Интеллектуальные энергетические системы" современного английского языка. Этимологический анализ проводится в аспекте "семантической эволюции слова", а также принадлежности слова к собственному или заимствованному языковому материалу

Исследование точности отверстий и их усадки в обрабатываемых дорнованием втулках

В работе рассмотрены область применения ,виды дорнов, схема процесса дорнования отверстия, схема параметры дорнования отверстия, плюсы и минусы дорнования, и оборудование для дорнования. Потом использование конечно-элементного программного обеспечения ANSYS для моделирования процесса обработки. Затем проведено исследование зависимости усадки отверстия от натяга, степени толстостенности, механических свойств материала, а также исследована кривизна обработанных отверстий. В заключении изложены выводы о проделанной работе и представлено уравнение описывающее исследованные зависимости.In the work, the scope of application, types of mandrels, a diagram of the mandrel process of a hole, a diagram of the parameters of a mandrel of a hole, the pros and cons of mandrel, and equipment for mandrel are considered. Then the use of ANSYS finite element software to simulate the processing process. Then the study of the dependence of the hole shrinkage on the tightness, the degree of thickness, the mechanical properties of the material was carried out, and the curvature of the machined holes was also investigated. In the conclusion, the conclusions about the work done are presented and the equation describing the investigated dependences is presented