СРАВНИТЕЛЬНЫЙ АНАЛИЗ ПОКАЗАТЕЛЕЙ СМЕРТНОСТИ ОТ ВНЕШНИХ ПРИЧИН В САНКТ-ПЕТЕРБУРГЕ, СЕВЕРО-ЗАПАДНОМ ФЕДЕРАЛЬНОМ ОКРУГЕ И РОССИЙСКОЙ ФЕДЕРАЦИИ

The purpose of this study was to evaluate the mortality rate of St. Petersburg population from external causes in 2010–2015 in comparison with similar indicators for the Northwest Federal District and the Russian Federation. Materials and methods. The authors used the following data for analysis: annual long-term monitoring of St. Petersburg trauma services status conducted by coordination and methodological center of trauma and orthopedics; government reporting on mortality; data of Federal State Statistics Service (Rosstat); data of St.Petersburg Statistics Service (Petrostat); data of St. Petersburg Medical Information Analysis Center (MIAС); studies on mortality issues as well as methods of descriptive statistics. Results. From 2003 to 2014 St. Petersburg population mortality rate demonstrated a steady decline as well as generally in Russia. 2015 featured a slight increase in absolute number of deaths per year (+1.2%) in St.Petersburg, while the similar indicator across the Russian Federation was still declining (-5.9%). In 2015 mortality from external causes in St. Petersburg constituted 68 deaths per 100 thousand inhabitants, which is 1.6 times less than in the Northwest federal district (109.6 per 100 thousand inhabitants), and 1.7 times less than in the Russian Federation – 112 per 100 thousand population. In the overall mortality structure of St. Petersburg population the external causes have been consistently occupying third place within recent years. In 2015 the proportion of deaths from external causes in general mortality amounted to 5.7%. Conclusions. According to official statistics since 2000 in St. Petersburg the mortality rate from all the major external causes reduced gradually, as well as in the Northwest federal district and on the whole in Russia. Various national and regional programs that have been rolled out in Russia allowed to reduce by half the mortality of working age population from homicide and from suicide by almost 30% in men and 40% in women. The most reliable evaluation can be made by taking into account a consistent reporting data of overall traffic accidents mortality. In calculation of mortality rate from external causes there is a possibility to underreport injury and poisoning mortality rates described by the following ICD-10 codes: X40-X49, R95-R99, Z57, Z58, Z63, R54.Цель исследования: изучить показатели смертности жителей Санкт-Петербурга (СПб) от внешних причин за 2010–2015 г. в сравнении с аналогичными показателями по Северо-Западному федеральному округу (СЗФО) и Российской Федерации (РФ). Материал и методы. Использованы материалы многолетнего ежегодного мониторинга состояния травматологической службы СПб, проводимого координационно-методологическим центром по травматологии ортопедии (ФБГУ «РНИИТО им. Р.Р. Вредена» МЗ РФ), формы государственной статистической отчетности по смертности, данные Росстата, Петростата, МИАЦ СПб, а так же материалы тематических исследований, касающихся вопросов смертности. Результаты. С 2003 по 2014 г. смертность населения в СПб, как и в целом в РФ, стабильно снижалась. В 2015 г. произошло незначительное увеличение абсолютного числа умерших за год на 1,2%, при этом аналогичный показатель по РФ по-прежнему снижался (5,9%). Показатель смертности населения от внешних причин в 2015 г. в СПб составил 68 умерших на 100 тыс. чел., что в 1,6 раза ниже показателя по СЗФО (109,6 на 100 тыс. чел.) и в 1,7 раза ниже показателя в целом по РФ – 112 на 100 тыс. чел. В общей структуре смертности населения СПб внешние причины в течение последних лет стабильно занимают третье место. Удельный вес смертей от внешних причин в общей смертности населения в 2015 г. составил 5,7%. Выводы. Начиная с 2000 г. показатель смертности от всех основных внешних причин устойчиво снижался как в СПб и СЗФО, так и в РФ в целом. Различные программы позволили снизить уровни смертности трудоспособного населения от убийств вдвое, от самоубийств – почти на 30% у мужчин и на 40% у женщин. Наиболее объективная оценка ситуации возможна при едином учете общего уровня смертности от всех транспортных происшествий. При расчете показателей смертности от внешних причин существует возможность недоучета смертности от травм и отравлений за счет таких блоков, как: Х40-Х49, R95-R99, Z57, Z58, Z63, R54

A powerful and rapid approach to human genome scanning in small quantities of genomic DNA

Dense maps of short-tandem-repeat polymorphisms (STRPs) have allowed genome-wide searches for genes involved in a great variety of diseases with genetic influences, including common complex diseases. Generally for this purpose, marker sets with a 10 cM spacing are genotyped in hundreds of individuals. We have performed power simulations to estimate the maximum possible intermarker distance that still allows for sufficient power. In this paper we further report on modifications of previously published protocols, resulting in a powerful screening set containing 229 STRPs with an average spacing of 18·3 cM. A complete genome scan using our protocol requires only 80 multiplex PCR reactions which are all carried out using one set of conditions and which do not contain overlapping marker allele sizes. The multiplex PCR reactions are grouped by sets of chromosomes, which enables on-line statistical analysis of a set of chromosomes, as sets of chromosomes are being genotyped. A genome scan following this modified protocol can be performed using a maximum amount of 2.5 μg of genomic DNA per individual, isolated from either blood or from mouth swabs.link_to_subscribed_fulltex

Наблюдение пациентов после эндопротезирования тазобедренного и коленного суставов: обзор литературы и доклад о пилотном проекте Национального медицинского исследовательского центра травматологии и ортопедии им. Р.Р. Вредена

Background. Today in our country, the follow-up of patients after arthroplasty is carried out in accordance with clinical guidelines, the wording of which is based on monographs from 2006, 2008, and 2014, in addition, clinical guidelines for follow-up do not take into account the results of treatment assessed by the patient himself. The purpose of this study was to examine existing systems and develop a proprietary follow-up system for patients after hip and knee arthroplasty. Results. A review of the literature revealed that follow-up of patients after arthroplasty is an unsolved problem, within which there is low coverage, reluctance or forgetfulness of the asymptomatic patient, the problem of accessibility of medical examinations, and an excessive financial burden on the health care system. Since 2022, fixed recommendations for follow-up after arthroplasty have been used in the clinical practice of our center in discharge epicrisis. Recommendations for the frequency of follow-up were formulated by experts based on a comprehensive review of the literature and their own experience. In the first three months, 221 hip and 235 knee evaluation questionnaires were collected through the proposed mechanism, with a progressive increase in the number of questionnaires based on weekly monitoring data. Conclusion. Unfortunately, the outpatient clinic system is not always able to provide qualitative monitoring of patients after arthroplasty due to various reasons, therefore, in our opinion, the implementation of the mechanism of remote monitoring of patients will allow detecting various complications at the stage of early diagnosis, which will contribute to prompt solution of these problems. The remote monitoring system is also an important source of scientific data.Актуальность. На сегодняшний день в России диспансерное наблюдение за пациентами после эндопротезирования осуществляется в соответствии с клиническими рекомендациями, формулировки из которых основаны на монографиях 2006, 2008 и 2014 гг. Кроме того, клинические рекомендации по диспансерному наблюдению не учитывают результаты лечения, оцененные самим пациентом. Целью данного исследования было изучение существующих систем и разработка собственной системы наблюдения за пациентами после эндопротезирования тазобедренного и коленного суставов. Результаты. Обзор литературы выявил, что наблюдение за пациентами после эндопротезирования представляет собой нерешенную проблему, составляющими которой являются низкий охват, нежелание или забывчивость асимптомных пациентов, проблема доступности медицинских осмотров, избыточная финансовая нагрузка на систему здравоохранения. С 2022 г. в клинической практике НМИЦ ТО им. Р.Р. Вредена в выписных эпикризах используются рекомендации по наблюдению после эндопротезирования. Рекомендации по периодичности наблюдений были сформулированы экспертами на основе всестороннего обзора литературы и собственного опыта. За первые три месяца собрана 221 анкета по оценке тазобедренного сустава и 235 коленного сустава, причем число анкет по данным еженедельного мониторинга прогрессивно возрастает. Заключение. К сожалению, поликлиническая система не всегда может обеспечить качественное наблюдение за пациентами после эндопротезирования в силу различных причин, поэтому реализация механизма удаленного наблюдения за пациентами, на наш взгляд, позволит выявлять на этапе ранней диагностики различные осложнения, что будет способствовать оперативному решению данной проблемы. Также система удаленного наблюдения представляет собой важный источник научных данных

Genetic influences on the difference in variability of height, weight and body mass index between Caucasian and East Asian adolescent twins.

Objective: Twin studies are useful for investigating the causes of trait variation between as well as within a population. The goals of the present study were two-fold: First, we aimed to compare the total phenotypic, genetic and environmental variances of height, weight and BMI between Caucasians and East Asians using twins. Secondly, we intended to estimate the extent to which genetic and environmental factors contribute to differences in variability of height, weight and BMI between Caucasians and East Asians. Design: Height and weight data from 3735 Caucasian and 1584 East Asian twin pairs (age: 13-15 years) from Australia, China, Finland, Japan, the Netherlands, South Korea, Taiwan and the United States were used for analyses. Maximum likelihood twin correlations and variance components model-fitting analyses were conducted to fulfill the goals of the present study. Results: The absolute genetic variances for height, weight and BMI were consistently greater in Caucasians than in East Asians with corresponding differences in total variances for all three body measures. In all 80 to 100% of the differences in total variances of height, weight and BMI between the two population groups were associated with genetic differences. Conclusion: Height, weight and BMI were more variable in Caucasian than in East Asian adolescents. Genetic variances for these three body measures were also larger in Caucasians than in East Asians. Variance components model-fitting analyses indicated that genetic factors contributed to the difference in variability of height, weight and BMI between the two population groups. Association studies for these body measures should take account of our findings of differences in genetic variances between the two population groups. © 2008 Macmillan Publishers Limited All rights reserved.link_to_subscribed_fulltex

Association between the CHRM2 gene and intelligence in a sample of 304 Dutch families.

The CHRM2 gene is thought to be involved in neuronal excitability, synaptic plasticity and feedback regulation of acetylcholine release and has previously been implicated in higher cognitive processing. In a sample of 667 individuals from 304 families, we genotyped three singlenucleotide polymorphisms (SNPs) in the CHRM2 gene on 7q31–35. From all individuals, standardized intelligence measures were available. Using a test of within-family association, which controls for the possible effects of population stratification, a highly significant association was found between the CHRM2 gene and intelligence. The strongest association was between rs324650 and performance IQ (PIQ), where the T allele was associated with an increase of 4.6 PIQ points. In parallel with a large familybased association, we observed an attenuated – although still significant – population-based association, illustrating that population stratification may decrease our chances of detecting allele–trait associations. Such a mechanism has been predicted earlier, and this article is one of the first to empirically show that family-based association methods are not only needed to guard against false positives, but are also invaluable in guarding against false negatives

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Background: Hirschsprung disease (HSCR), which is congenital obstruction of the bowel, results from a failure of enteric nervous system (ENS) progenitors to migrate, proliferate, differentiate, or survive within the distal intestine. Previous studies that have searched for genes underlying HSCR have focused on ENS-related pathways and genes not fitting the current knowledge have thus often been ignored. We identify and validate novel HSCR genes using whole exome sequencing (WES), burden tests, in silico prediction, unbiased in vivo analyses of the mutated genes in zebrafish, and expression analyses in zebrafish, mouse, and human. Results: We performed de novo mutation (DNM) screening on 24 HSCR trios. We identify 28 DNMs in 21 different genes. Eight of the DNMs we identified occur in RET, the main HSCR gene, and the remaining 20 DNMs reside in genes not reported in the ENS. Knockdown of all 12 genes with missense or loss-of-function DNMs showed that the orthologs of four genes (DENND3, NCLN, NUP98, and TBATA) are indispensable for ENS development in zebrafish, and these results were confirmed by CRISPR knockout. These genes are also expressed in human and mouse gut and/or ENS progenitors. Importantly, the encoded proteins are linked to neuronal processes shared by the central nervous system and the ENS. Conclusions: Our data open new fields of investigation into HSCR pathology and provide novel insights into the development of the ENS. Moreover, the study demonstrates that functional analyses of genes carrying DNMs are warranted to delineate the full genetic architecture of rare complex diseases

Ранние результаты применения индивидуально изготовленных модульных конусов для замещения метафизарно-диафизарных костных дефектов при ревизионной артропластике коленного сустава

The aim of this study was the assessment of early outcomes of patient-specific three-dimensional titanium cones with specified porosity parameters to compensate for extensive metaphysical-diaphyseal bone defects in RTKA.Materials and Methods. Since 2017 till 2019 30 patient-specific titanium cones (12 femoral and 18 tibial) implanted during 26 RTKAS. Clinical outcomes evaluated using KSS, WOMAC and fjS-12 scoring systems on average 10 (2–18) months after surgery. At the same time the stability of implant fixation analyzed using frontal, lateral and axial knee roentgenograms.Results. During all procedures there were no technical difficulties in positioning and implantation of custom-made titanium cones. At the time of preparation of the publication, none of the patients had indications for further surgical intervention, as well as intra- and postoperative complications. Six months after surgery all scores improved significantly: KSS from 23 (2–42, SD 19.96) to 66.5 (62–78, SD 7.68), WOMAC from 59 (56–96, SD 28.31) to 32.25 (19–46, SD 11.76), the index FJS-12 was 29.16 points (0–68.75, SD 30.19). The average scores continued to improve up to 18 months: KSS — 97.5 (88–108, SD 9.14), WOMAC — 16.5 (9–24, SD 6.45), FJS-12 — 45.85 (25–75, SD 22.03). No radiolucent lines were noticed during this period of observation.Conclusion. The original additive technology of designing and producing patient-specific titanium cones for compensation of extensive metaphyseal-diaphyseal bone defects in RTKA is a valid solution at least in the short term. A longer follow-up period is required to assess its medium-and long-term reliability compared to existing alternative surgical solutions.Целью исследования явилась оценка ранних результатов применения аддитивной технологии, позволяющей проектировать и создавать индивидуальные трехмерные титановые конусы с заданными параметрами пористости и адгезии для компенсации метафизарно-диафизарных костных дефектов при ревизионной артропластике коленного сустава.Материал и методы. С 2017 по 2019 г. выполнено проектирование и имплантация при ревизионной артропластике коленного сустава 30 индивидуальных металлоконструкций (12 бедренных и 18 большеберцовых) 26 пациентам. Клиническая оценка ранних исходов лечения проводилась с использованием русскоязычных версий балльных шкал оценки функции коленного сустава KSS, WOMAC, FJS-12 в среднем через 10 (2–18) месяцев после операции. В аналогичные сроки проводился анализ стабильности фиксации компонентов эндопротеза по стандартным рентгенограммам коленного сустава в трех проекциях.Результаты. Во всех наблюдениях не было отмечено технических сложностей в позиционировании и установке индивидуально изготовленных титановых конусов. на момент подготовки публикации ни у одного из прооперированных пациентов не возникло показаний к повторному хирургическому вмешательству, равно как и не было отмечено интра- и послеоперационных осложнений. Ранние функциональные исходы лечения оценены у всех 26 прооперированных больных в среднем через 6 и 18 месяцев после вмешательства. Через полгода балльная оценка функции коленного сустава значительно улучшилась: KSS с 23 (2–42; SD 19,96) до 66,5 (62–78; SD 7,68), WOMAC c 59 (56–96; SD 28,31) до 32,25 (19–46; SD 11,76), показатель FJS-12 составил 29,16 балла (0–68,75; SD 30,19). Через 18 месяцев средние показатели балльных шкал составили: KSS — 97,5 (88–108; SD 9,14), WOMAC— 16,5 (9–24; SD 6,45), FJS-12 — 45,85 (25–75; SD 22,03). Рентгенологических признаков нестабильности компонентов эндопротеза за период наблюдения выявлено не было.Заключение. Оригинальная аддитивная технология проектирования и создания индивидуальных титановых конусов для компенсации метафизарно-диафизарных костных дефектов при ревизионной артропластике коленного сустава является перспективным и клинически эффективным решением как минимум в ближайшей перспективе. Для оценки ее среднесрочной и отдаленной надежности по сравнению с существующими альтернативными хирургическими решениями, несомненно, требуется более длительный период наблюдения