IPT9, a cis-zeatin cytokinin biosynthesis gene, promotes root growth

Cytokinin and auxin are plant hormones that coordinate many aspects of plant development. Their interactions in plant underground growth are well established, occurring at the levels of metabolism, signaling, and transport. Unlike many plant hormone classes, cytokinins are represented by more than one active molecule. Multiple mutant lines, blocking specific parts of cytokinin biosynthetic pathways, have enabled research in plants with deficiencies in specific cytokinin-types. While most of these mutants have confirmed the impeding effect of cytokinin on root growth, the ipt29 double mutant instead surprisingly exhibits reduced primary root length compared to the wild type. This mutant is impaired in cis-zeatin (cZ) production, a cytokinin-type that had been considered inactive in the past. Here we have further investigated the intriguing ipt29 root phenotype, opposite to known cytokinin functions, and the (bio)activity of cZ. Our data suggest that despite the ipt29 short-root phenotype, cZ application has a negative impact on primary root growth and can activate a cytokinin response in the stele. Grafting experiments revealed that the root phenotype of ipt29 depends mainly on local signaling which does not relate directly to cytokinin levels. Notably, ipt29 displayed increased auxin levels in the root tissue. Moreover, analyses of the differential contributions of ipt2 and ipt9 to the ipt29 short-root phenotype demonstrated that, despite its deficiency on cZ levels, ipt2 does not show any root phenotype or auxin homeostasis variation, while ipt9 mutants were indistinguishable from ipt29. We conclude that IPT9 functions may go beyond cZ biosynthesis, directly or indirectly, implicating effects on auxin homeostasis and therefore influencing plant growth

Improving the quality of system providing specialized management with intraarticular lower extremities fractures of the bones

The authors have developed a system for providing of specialized system management for treatment patients with severe intraarticular fractures of the lower extremities, including the new technology combining methology of external and internal osteosynthesis, arthroplasty methodology, modified bone fixators, new approaches to the joints, new trends in bone defects augmentation. The application of new technologies of diagnostics and treatment, united in a system for providing specialized assistance and results, improving the quality of life of those affected.Авторами разработана система оказания специализированной помощи пострадавшим с тяжелыми внутрисуставными переломами нижних конечностей, включающая новые технологии чрескостного и внутреннего остеосинтеза, усовершенствованные методики эндопротезирования, модифицированные металлофиксаторы, доступы к суставам, способы пластики дефектов костной ткани. Применение новых технологий диагностики и лечения, объединенных в систему оказания специализированной помощи, способствовало улучшению результатов, повышению качества жизни пострадавших

Innovative approaches in vocational training of traumatologists-orthopedists department

Experience of department of traumatology and orthopedics on vocational training of doctors is given in article. The innovative approaches used when tutoring consist in development and deployment of programs of padding education for the modules lasting 36-72 watch including lab training in working off practical skills at biodummies, a training at a workplace with demonstration of surgical manipulations, the solution of relevant situational tasks (cases), participation in the webinars held by the Russian and foreign universities and also use of network form of education together with higher educational institutions of «The Ural scientific and educational consortium of biomedicine, a pharmaceutics and medical engineering».В статье приведен опыт работы кафедры травматологии и ортопедии ФПК и ПП по профессиональной подготовке врачей травматологов-ортопедов. Инновационные подходы, используемые при обучении, заключаются в разработке и внедрении программ дополнительного образования по модулям продолжительностью 36—72 часа, включающих симуляционное обучение по отработке практических навыков на биоманекенах, стажировку на рабочем месте с демонстрацией хирургических манипуляций, решение актуальных ситуационных задач (кейсов), участие в вебинарах, проводимых российскими и зарубежными университетами, а также использование сетевой формы обучения совместно с высшими учебными учреждениями «Уральского научно-образовательного консорциума биомедицины, фармации и медицинской инженерии»

ПРЕИМУЩЕСТВА ИСПОЛЬЗОВАНИЯ МОДИФИЦИРОВАННОГО ШЕЕЧНОГО ВИНТА ПРИ ОСТЕОСИНТЕЗЕ ПЕРЕЛОМОВ ПРОКСИМАЛЬНОГО ОТДЕЛА БЕДРА У ПОЖИЛЫХ ПАЦИЕНТОВ

BACKGROUND. Extra-articular fractures of the proximal femur are severe lower extremity trauma, most patients are of elderly and senile age, what makes the problem of surgical management actual.MATERIALS AND METHODS.We made a retrospective analysis of surgical treatment in 91 patients treated in 2010–2013. Entry criteria were: age over 65 years, application of a standard proximal femoral fixator (PFF) and PFF with modified neck screw, postoperative monitoring period up to 36 months. The overall performance was assessed depending on the fracture type in accordance with AO/ASIF classification (A1, A2, and A3). To assess the effectiveness of the proposed PFF with modified neck screw we formed the study group (n=28) and the comparison group (n=63). The PFF with modified neck screw was applied in the study group. The standard PFF was applied (“Osteosynthesis”, Rybinsk) in the control group. The x-ray, clinical and statistical methods of research were used. To assess the functional status and quality of life, harris hip score was applied.RESULTS. In overall performance, excellent results occurred in 35.3% 12 months postoperatively, good — 29.7%, satisfactory — 26%, unsatisfactory — 8.8%. In patients with A1 type fractures, excellent and good results (77.7%) were higher in total than the corresponding figures in patients with A2 (51.3%) and A3 (75.0%) type fractures. Unsatisfactory results more frequently occurred in patients with A2 type fractures (p=0.038). Twelve months after the surgery excellent and good results in the study group (75.0%) exceeded the similar data in the comparison group (46.0%) by 1.63 times (p=0.039). Unsatisfactory results were observed 3.08 times more often in patients of the comparison group (3.6% and 11.1%, respectively), p=0.041.CONCLUSION. Application of PFF with modified neck screw, allowed 75.0% excellent and good results to be achieved in the study group, compared to 46.0% in the comparison group.АКТУАЛЬНОСТЬ. Внесуставные переломы проксимального отдела бедренной кости относятся к тяжелой травме нижней конечности, большую часть пострадавших составляют пациенты пожилого и старческого возраста, что повышает актуальность проблемы их хирургического лечения.МАТЕРИАЛ И МЕТОДЫ. Проведен ретроспективный анализ результатов хирургического лечения 91 пациента за период 2010–2013 гг. Критериями включения явились: возраст старше 65 лет, использование стандартного проксимального бедренного фиксатора (ПБФ) иПБФ с модифицированным шеечным винтом, период послеоперационного наблюдения до 36 мес включительно. Общая результативность оценена в зависимости от типа перелома по классификации AO/ASIF (A1, A2 и A3). Для оценки эффективности предлагаемого авторами модифицированного фиксатора приведены 2 группы: основная (n=28) и группа сравнения (n=63). В группе сравнения в качестве цефаломедуллярного металлофиксатора применен ПБФ с модифицированным шеечным винтом. В группе сравнения в качестве цефаломедуллярного металлофиксатора применен стандартный ПБФ («Остеосинтез», г. Рыбинск). Использовали рентгенологический, клинический и статистический методы исследования. Для оценки функционального статуса и качества жизни пациентов после операции применялась балльная шкала Harris.РЕЗУЛЬТАТЫ. При оценке общей результативности через 12 мес после операции отличные результаты отмечены у 35,3% пациентов, хорошие — у 29,7%, удовлетворительные — у 26,0%, а неудовлетворительные — у 8,8% больных. У пострадавших с переломами типа А1 сумма отличных и хороших результатов лечения (77,7%) превышала аналогичные показатели у пострадавших с типами переломов А2 (51,3%) и А3 (75,0%). Неудовлетворительные результаты лечения чаще встречались при типе А2 (p=0,038). Через 12 мес после операции в основной группе сумма отличных и хороших результатов (75,0%) превышала аналогичные показатели в группе сравнения (46,0%) в 1,6 раза (p=0,039). Неудовлетворительные результаты у больных группы сравнения встретились статистически значимо в 3,1 раза чаще, чем у больных основной группы (3,6% и 11,1% соответственно), p=0,041.ЗАКЛЮЧЕНИЕ. Применение ПБФ с модифицированным шеечным винтом через 12 мес после операции позволило достигнуть 75,0% отличных и хороших результатов лечения в основной группе против 46,0% в группе сравнения

Molecular epidemiology of DFNB1 deafness in France

BACKGROUND: Mutations in the GJB2 gene have been established as a major cause of inherited non syndromic deafness in different populations. A high number of sequence variations have been described in the GJB2 gene and the associated pathogenic effects are not always clearly established. The prevalence of a number of mutations is known to be population specific, and therefore population specific testing should be a prerequisite step when molecular diagnosis is offered. Moreover, population studies are needed to determine the contribution of GJB2 variants to deafness. We present our findings from the molecular diagnostic screening of the GJB2 and GJB6 genes over a three year period, together with a population-based study of GJB2 variants. METHODS AND RESULTS: Molecular studies were performed using denaturing High Performance Liquid Chromatograghy (DHPLC) and sequencing of the GJB2 gene. Over the last 3 years we have studied 159 families presenting sensorineural hearing loss, including 84 with non syndromic, stable, bilateral deafness. Thirty families were genotyped with causative mutations. In parallel, we have performed a molecular epidemiology study on more than 3000 dried blood spots and established the frequency of the GJB2 variants in our population. Finally, we have compared the prevalence of the variants in the hearing impaired population with the general population. CONCLUSION: Although a high heterogeneity of sequence variation was observed in patients and controls, the 35delG mutation remains the most common pathogenic mutation in our population. Genetic counseling is dependent on the knowledge of the pathogenicity of the mutations and remains difficult in a number of cases. By comparing the sequence variations observed in hearing impaired patients with those sequence variants observed in general population, from the same ethnic background, we show that the M34T, V37I and R127H variants can not be responsible for profound or severe deafness

Long term results of surgical treatment of intra articular fractures of the proximal condyle of the tibia

The article reviews the long-term results of surgical treatment of intraarticular fractures of the proximal part of tibial bone in 7 patients in the postoperative period of 3 years. Results of the study show that the majority of patients (72%, n=5) note a lack of pain and stiffness in the joint, but their quality of life is reduced due to the presence of a fracture in the history. The average value on the scale “Physical component of health” of the SF-36 questionnaire is 42.04 (with a maximum value of 100), which indicates a decrease in physical functioning, a deterioration in the general state of health associated with a previous injury.В статье рассмотрены отдаленные результаты хирургического лечения внутрисуставных переломов проксимального отдела большеберцовой кости у 7 пациентов в послеоперационном периоде от 3 лет. Результаты исследования показывают, что большинство пациентов (72%, n=5) отмечают отсутствие боли и тугоподвижности в суставе, но при этом качество их жизни снижено в связи с наличием в анамнезе перелома. Среднее значение по шкале «Физический компонент здоровья» опросника SF-36 – 42,04 (при максимальном значении 100), что говорит о снижении физического функционирования, ухудшении общего состояния здоровья, связанного с предшествующей травмо

Spectrum of Genetic Changes in Patients with Non-Syndromic Hearing Impairment and Extremely High Carrier Frequency of 35delG GJB2 Mutation in Belarus

The genetic nature of sensorineural hearing loss (SNHL) has so far been studied for many ethnic groups in various parts of the world. The single-nucleotide guanine deletion (35delG) of the GJB2 gene coding for connexin 26 was shown to be the main genetic cause of autosomal recessive deafness among Europeans. Here we present the results of the first study of GJB2 and three mitochondrial mutations among two groups of Belarusian inhabitants: native people with normal hearing (757 persons) and 391 young patients with non-syndromic SNHL. We have found an extremely high carrier frequency of 35delG GJB2 mutation in Belarus −5.7%. This point deletion has also been detected in 53% of the patients with SNHL. The 312del14 GJB2 was the second most common mutation in the Belarus patient cohort. Mitochondrial A1555G mt-RNR1 substitution was found in two SNHL patients (0.55%) but none were found in the population cohort. No individuals carried the A7445G mutation of mitochondrial mt-TS1. G7444A as well as T961G substitutions were detected in mitochondrial mt-RNR1 at a rate of about 1% both in the patient and population cohorts. A possible reason for Belarusians having the highest mutation carrier frequency in Europe 35delG is discussed

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

Molecular genetic testing for the 11p15-associated imprinting disorders Silver–Russell and Beckwith–Wiedemann syndrome (SRS, BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. With the growing knowledge on the molecular basis of these disorders and the demand for molecular testing, it turned out that there is an urgent need for a standardized molecular diagnostic testing and reporting strategy. Based on the results from the first external pilot quality assessment schemes organized by the European Molecular Quality Network (EMQN) in 2014 and in context with activities of the European Network of Imprinting Disorders (EUCID.net) towards a consensus in diagnostics and management of SRS and BWS, best practice guidelines have now been developed. Members of institutions working in the field of SRS and BWS diagnostics were invited to comment, and in the light of their feedback amendments were made. The final document was ratified in the course of an EMQN best practice guideline meeting and is in accordance with the general SRS and BWS consensus guidelines, which are in preparation. These guidelines are based on the knowledge acquired from peer-reviewed and published data, as well as observations of the authors in their practice. However, these guidelines can only provide a snapshot of current knowledge at the time of manuscript submission and readers are advised to keep up with the literature