Efficiency of treatment of laryngopharyngeal reflux with proton pump inhibitors depending on the <i>CYP2C19</i> polymorphism

Introduction. A treatment for LFR for many years, the superiority of PPIs over placebos is still controversial. Of particular clinical importance is the metabolic rate of PPIs in hepatocytes using the cytochrome P450 system with the participation of the isoenzyme CYP2C19 and partially CYP3A4Аim. We set a goal to study the efficacy of omeprazole 20 mg in the treatment of LFR symptoms without esophageal syndrome in patients with gastroesophageal reflux (GERD), depending on the polymorphism of the CYP2C19 genotype.Мaterials and мethods. After the exclusion criteria, 100 people took part in the study, 94 people completed the study.Results. According to the results, 26.6% of patients in the study group (residents of the Moscow region) with LFR symptoms without esophageal syndrome belong to fast metabolizers of CYP2C19, 4.2% to ultrafast metabolizers, 52.1% to normal metabolizers, 16% to intermediate metabolizers and 1.1% to slow CYP2C19.Conclusions. In patients with a rapid metabolism, within 1 month after discontinuation of omeprazole, it is necessary to increase the amount of omeprazole 20 mg intake up to 2 times a day in the morning and in the evening and reduce the duration of treatment to 6 weeks

Twenty-year clinical progression of dysferlinopathy in patients from Dagestan

© 2017 Umakhanova, Bardakov, Mavlikeev, Chernova, Magomedova, Akhmedova, Yakovlev, Dalgatov, Fedotov, Isaev and Deev.To date, over 30 genes with mutations causing limb-girdle muscle dystrophy have been described. Dysferlinopathies are a form of limb-girdle muscle dystrophy type 2B with an incidence ranging from 1:1,300 to 1:200,000 in different populations. In 1996, Dr. S. N. Illarioshkin described a family from the Botlikhsky district of Dagestan, where limb-girdle muscle dystrophy type 2B and Miyoshi myopathy were diagnosed in 12 members from three generations of a large Avar family. In 2000, a previously undescribed mutation in the DYSF gene (c.TG573/574AT; p. Val67Asp) was detected in the affected members of this family. Twenty years later, in this work, we re-examine five known and seven newly affected family members previously diagnosed with dysferlinopathy. We observed disease progression in family members who were previously diagnosed and noted obvious clinical polymorphism of the disease. A typical clinical case is provided

Corrigendum: Twenty-year clinical progression of dysferlinopathy in patients from Dagestan [Front Neurol, 8, (2017) (77)] doi: 10.3389/fneur.2017.00077

The "Funding" section should be: This work was funded by Human Stem Cells Institute PJSC and Roman V. Deev. Theoretical part of this work was supported by Russian Scientific Foundation grant (14-15-00916). Ivan A. Yakovlev and Mikhail O. Mavlikeev were supported by the Russian Government Program of Competitive Growth of Kazan Federal University. The authors apologize for this error and state that this does not change the scientific conclusions of the article in any way

Features of the demographic situation in the Republic of Dagestan (2002-2012)

The subject of the study: demographic indicators in the Republic of Dagestan (RD) from 2002 to 2012. Topic of the research: dynamics and structure of the demographic data in RD and Russian Federation (RF). Objective: comprehensive analysis of the geographical features of RD, dynamics and structure of the demographic data in RD and RF from 2002 to 2012; detection features of demographic situation in RD in comparison to RF. Methodology: study of the indicators of the total population, its structure by age, sex, place of residence, including women and children; total death rate, birth rate, natality in the dynamics of RD in comparison to RF. Results: demographic situation in RD is characterized by high rate of natality due to the high level of growing birthrate, which is steady exceeding the index in RF more than 1,5 times while there is low index of death rate, that is progressively decreases and remains lower than in RF not less than 2,4 times; by increasing index of natality from 2005 to 2012, that reached level of 13,4 per 1000 population in 2012, this index is higher than in RF (0 per 1000); by a high proportion of rural population, that is higher than in RF more than 2 times (55,4% and 26% respectively); by high proportion of women of childbearing age (56,3% of the total female population), most of them live in the countryside (55%), by a high proportion of child population (0-14 years old), which is higher thatT in RF 1,6 times, that represents 24,9% and 15,5% respectively and with an equal index of working population proportion (62,2% and 36,2% respectively) indicates a high demographic and socio­economic burden on the working population in RD. Range of application of the results: when forming programs for optimizing the structure of health care in RD and in other subjects of RF; when forming territorial programs of Government guarantees of health care in RD and in other subjects of RF. Findings: integrated assessment of geographical features, transport connection, demographical situation features in the region, a detailed study of the reasons why the death rate of population is higher than average index in the RF, should be considered when planning structure and volume of medical care in the region.Предмет исследования: демографические показатели Республики Дагестан (РД) 2002-2012гг. Тема исследования: динамика и структура демографических показателей РД и Российской Федерации (РФ). Цель работы: анализ географических особенностей, динамики и структуры демографических показателей РД в период 2002-2012гг. в сравнении с РФ, выявление особенностей демографической ситуации в РД. Методология: изучение показателей общей численности населения РД, ее структуры по возрасту, полу, месту жительства, в т.ч. женского и детского; общей смертности населения, рождаемости, естественного прироста в динамике в сравнении с РФ. Результаты: демографическая ситуация в РД характеризуется: высоким темпом естественного прироста населения за счет высокого растущего уровня рождаемости, стабильно превышающего показатель в РФ более, чем в 1,5 раза на фоне низкого показателя общей смертности населения, который прогрессивно снижаясь, остается ниже, чем в РФ не менее, чем в 2,4 раза; увеличением показателя естественного прироста населения в 2005- 2012гг. на 58% с достижением в 2012г. уровня 13,4на 1000 населения, что выше, чем в РФ(0 на 1000 населения); высокой долей сельского населения, превышающей показатель в РФ более, чем в 2 раза (55,4% и 26% соответственно);высокой долей женщин детородного возраста (56,3 % от общей численности женского населения), большая часть которых проживает в сельской местности (55%);высокой долей детского населения (0-14 лет), превышающей показатель в РФ в 1,6 раза, что составляет 24,9% и 15,5% соответственно и при равном показателе доли трудоспособного населения (62,2% и63,2% соответственно), свидетельствует о высокой демографической и социально-экономической нагрузке на трудоспособное население РД. Область применения результатов: при формировании Программ оптимизации структуры оказания медицинской помощи в РД и других субъектах РФ; при формировании территориальных программ Государственных гарантий оказания медицинской помощи в РД и других субъектах РФ. Выводы: комплексная оценка географических особенностей, транспортного сообщения, особенностей демографической ситуации в регионе, детальное изучение причин, по которым показатели смертности населения превышают общероссийские показатели, необходимо учитывать при планировании структуры и объемов медицинской помощи в регионе

The role of lipoproteins in the bone metabolism in postmenopausal women against the background of obesity

The aim of this article was to study the effect of lipoproteins on bone mass in postmenopausal women against the background of obesity. The study included 165 women, who were postmenopausal. The 1st group included 87 women with abdominal obesity, the 2nd group - 78 women without obesity. In group 124 (27.8%) patients had normal values of bone mineral density, the osteopenia was defined in 48 (55.4%) patients and osteoporosis was defined in 15 (16.8%) patients. 2 It was noted that in the second group 22 (28.4%) patients had normal values of bone mineral density, 37 (47.7%) had osteopenia and 19 (23.9%) had osteoporosis. It can be assumed that the atherogenic changes in the lipid profile may be one of the risk factors in the formation of osteopenic syndrome in postmenopausal women against the background of obesity.Целью данного исследования явилось изучение влияния липопротеидов на костную массу женщин в постменопаузальном периоде на фоне ожирения. В исследование было включено 165 женщин в период постменопаузы. В 1-ю группу включены 87 женщин с абдоминальным типом ожирения, во 2-ю группу - 78 женщины без ожирения. В 1 группе 24 (27,8%) пациентки имели нормальные показатели минеральной плотности костной ткани, у 48 (55,4%) пациенток определялась остеопения и у 15 (16,8%) - остеолороз. Во 2 же группе отмечено, что у 22 (28,4%) пациентов имелись нормальные показатели минеральной плотности костной ткани, у 37 (47,7%) - остеопения и у 19 (23,9%) - остеопороз. Можно предположить, что атерогенные изменения в липидном профиле могут являться одним из факторов риска формирования остеоленического синдрома в постменопаузе на фоне ожирения

Hybrid ( laser- spark) a method of applying a reinforcement coating

Hybrid spark -laser treatment shows a positive effect on the performance properties of coatings (roughness, thickness, continuity, adhesion).Гибридная электроискровая –лазерная обработка показывает положительное влияние на эксплуатационные свойства покрытий (шероховатость, толщину, сплошность, адгезию)

The clinical case of limb-girdle muscle dystrophy 2Q associated with myasthenic syndrome and lung damage

Limb-girdle muscle dystrophy 2Q is one of the rarest forms of plectinopathies and is represented by an isolated muscular dystrophic syndrome, according to two previously described literature reports. There are five forms of plectinopathies, including limb-girdle muscle dystrophy 2Q, are caused by mutations in the PLEC gene, the alternative splicing of which determines the synthesis of 9 isoforms of the plectin protein (1, 1a, 1b, 1c, 1d, 1e, 1f, 1g, 3) performing cytolinker function in the neuronal, epithelial and muscle tissue.The article describes the family observation of three sick siblings with the limb-girdle muscle dystrophy 2Q phenotype due to the presence of a new homozygous mutation (NM_201378.3:c.58G&gt;T, NP_958780.1:p.Glu20Ter) in the isoform 1f PLEC revealed by whole-exome sequencing. Clinical, electromyography, visualization and histopathological features of limb-girdle muscle dystrophy 2Q were analyzed in detail. The onset of clinical manifestations in all the described siblings was observed in early childhood with moderate weakness mainly in the pelvic girdle muscles and proximal lower limbs with minimal involvement of the muscles of the shoulder girdle. A distinctive aspect is the stagnation of the myodystrophic process until 20—21 years, followed by the progression and development of episodes of respiratory failure, as well as the formation of rigidity of the cervical, thoracic spine and moderate contracture of the Achilles tendons. Typical features are marked atrophy of paravertebral muscles with the formation of pterygoid scapula and the presence of hypertrophy m. gastrocnemius, m. quadriceps femoris, m. deltoideus and m. triceps brachii. Histopathological examination m. vastus lateralis revealed myodystrophic process without inflammatory infiltration, muscle fiber cytoskeleton disorganization resulted from the plectin loss.Electrocardiography signs of the early repolarization syndrome, focal cardiosclerosis and sinus tachycardia are described. For the first time, involvement in the pathological process of pulmonary tissue in the form of noninfectious bronchiolitis, atelectasis, and the development of the myasthenic syndrome causing episodes of respiratory failure resulted in the death of two described siblings aged 29 and 31 years. Discussed pathogenetic role of PLEC 1f isoform in the development of described syndromes, expands understanding of rare nosology limb-girdle muscle dystrophy 2Q

A Novel 3-Hydroxysteroid Dehydrogenase That Regulates Reproductive Development and Longevity

A multidisciplinary approach identifies novel biochemical activities involved in the synthesisof C. elegans bile acid-like steroids, which act as hormones that regulate sterol metabolism and longevity

Характеристика лямблиоза и энтеробиоза у детей Астраханской области

Purpose: assessment of the clinical and epidemiological situation of current invasions in children of the Astrakhan region. 315 outpatient cards of children were analyzed in 2016.The diagnosis of Giardiasis was made to 151 children, the diagnosis of Enterobiasis — 164. The age of all observed children ranged from 9 months to 17 years. The largest part was made up of children aged 3 to 14 years of age — 80.3%, among them enterobiasis was identified — in 46.7%, giardiasis — in 33.6% of cases. Most of the children  — 90.5% were from organized groups (they attended preschool institutions or school). The reasons for the examination of all children were varied. Some children — 63.5% went to the doctor with complaints  or clinical symptoms. Another part of the children — 33% of the diagnosis was made as a result of preventive examinations.In most cases — 78.7% various bad habits were identified. Thus, geophagy (the habit of eating the earth) was noted in 33.3% of children, and onigophagy (the habit of biting the nails) in 24.8%. In 21.3% of cases, bad habits were absent. Contact with pets was established in 22.9% of children. According to the ultrasound, most children with giardiasis (83.8%) had pathology (reactive changes of the pancreas, liver, gallbladder dyskinesia, etc.)In case of giardiasis niferator, albendazole was administered. In case of enterobiasis albendazole, pyrantel, and mebendazole were administered in age dosages. After antiparasitic treatment, in 91.4% of cases, the clinical symptoms of the disease completely disappeared, with giardiasis — in 85.4%, with enterobiasis — in 97% of cases.In 1.3% of children with giardiasis, after several courses of antiparasitic drugs, Giardia was found in feces in the absence of complaints and clinical symptoms, indicating a possible Giardia carrier parasite in children.С целью оценки клинико-эпидемиологической ситуации по актуальным инвазиям у детей Астраханской области было проанализировано 315 амбулаторных карт детей, обратившихся в 2016  г. Диагноз Лямблиоз был поставлен 151 ребенку, диагноз Энтеробиоз — 164.Возраст всех наблюдаемых детей составлял от 9 месяцев до 17 лет. Наибольшую часть составили дети в возрасте от 3 до 14 лет жизни — 80,3%, среди них энтеробиоз был выявлен в 46,7%, лямблиоз — в 33,6% случаев. Большинство детей — 90,5% были из организованных коллективов (посещали  детские дошкольные учреждения или школу). Причины обследования всех детей были разнообразными.  Часть  детей  — 63,5% обратились к специалисту в связи с наличием у них тех или иных клинических симптомов и жалоб. Другой части  детей  — 33% диагноз был выставлен в результате профилактических осмотров.В большинстве  случаев — 78,7% были выявлены различные вредные привычки. Так, геофагия (привычка есть землю) отмечалась у 33,3% детей, а онигофагия (привычка грызть ногти) — у 24,8%. В 21,3% случаев вредные привычки отсутствовали. Котакт с домашними животными был установлен  у 22,9% детей. По данным УЗИ, у большинства детей с лямблиозом (83,8%) отмечалась патология (реактивные изменения поджелудочной железы, печени, дискинезия желчного пузыря и др.).В качестве антипаразитарной  терапии при лямблиозе назначался нифуратель, альбендазол, при энтеробиозе — альбендазол, пирантел и мебендазол в возрастных дозировках. После лечения в 91,4% случаев клинические симптомы заболевания полностью исчезли, при лямблиозе — в 85,4%, при энтеробиозе — в 97% случаев.У 1,3% детей с лямблиозом после нескольких курсов антипаразитарными препаратами обнаруживались лямблии в фекалиях при отсутствии жалоб и клинических симптомов, что свидетельствует о возможном паразитоносительстве лямблий у детей