Timely diagnosis of lysosomal acid lipase deficiency in children and young adults with lipid profile abnormalities. Expert opinion

M.V. Ezhov1, E.Yu. Zakharova2, A.A. Avramenko3,4, A.S. Alieva5, I.N. Zakharova6, I.V. Leont'eva7, S.I. Malyavskaya8, I.M. Osmanov9, D.I. Sadykova10, M.L. Stolina11, T.V. Strokova7,12 1National Medical Research Center of Cardiology, Moscow, Russian Federation 2Research Center for Medical Genetics, Moscow, Russian Federation 3V.P. Polyakov Samara Regional Clinical Cardiological Dispensary, Samara, Russian Federation 4Samara State Medical University, Samara, Russian Federation 5V.A. Almazov National Medical Research Center, St. Petersburg, Russian Federation 6Russian Medical Academy of Continuous Professional Education, Moscow, Russian Federation 7Pirogov Russian National Research Medical University, Moscow, Russian Federation 8North State Medical University, Arkhangelsk, Russian Federation 9Z.A. Bashlyaeva Children’s City Clinical Hospital, Moscow, Russian Federation 10Kazan State Medical University, Kazan, Russian Federation 11Pacific State Medical University, Vladivostok, Russian Federation 12Federal Research Center for Nutrition and Biotechnology, Moscow, Russian Federation Lysosomal acid lipase deficiency (LAL-D) is a monogenic progressive life-threatening condition characterized by abnormal lipid profiles in most patients of all ages. Timely diagnosis and early pathogenetically-oriented treatment (available in Russia) are crucial for children and young adults since abnormal serum levels of lipids are associated with the onset and severity of atherosclerosis in adolescence, young and middle age. The prognosis of LAL-D without pathogenetically oriented treatment is poor. Data on cholesteryl ester storage disease (a variant of LAL-D in children and adults), early atherosclerosis, coronary heart disease, aortic calcification, etc., are available. However, early diagnosis of LAL-D is difficult due to long-term latent course and nonspecific clinical signs. In December 2020, a panel of leading Russian experts in the diagnosis and treatment of orphan diseases and lipidologists was held in Moscow. This panel developed an algorithm to optimize the early diagnosis of dyslipidemias in children and young adults and identify patients with LAL-D in a total population of patients with lipid profile abnormalities. Keywords: lysosomal acid lipase deficiency, lipid profile, atherosclerosis, lipid center. For citation: Ezhov M.V., Zakharova E.Yu., Avramenko A.A. et al. Timely diagnosis of lysosomal acid lipase deficiency in children and young adults with lipid profile abnormalities. Expert opinion. Russian Journal of Woman and Child Health. 2021;4(3):268–276 (in Russ.). DOI: 10.32364/2618-8430-2021-4-3-268-276. </p

Effect of vitamin D on the pregnancy and the health of newborns and infants: state-of-the-art

I.N. Zakharova1, S.V.&nbsp;Mal’tsev1, V.V. Zubkov2, V.A.&nbsp;Kur’yaninova3, A.V. Dmitriev4, L.I.&nbsp;Mal’tseva5, N.E. Verisokina3, L.Ya. Klimov3, E.N.&nbsp;Vasil’eva6, S.I. Malyavskaya7, A.L. Zaplatnikov1 1Russian Medical Academy of Continuous Professional Education, Moscow, Russian Federation 2V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russian Federation 3Stavropol State Medical University, Stavropol, Russian Federation 4Ryazan State Medical University, Ryazan, Russian Federation 5Kazan State Medical Academy — Branch of the Russian Medical Academy of Continuous Professional Education, Kazan, Russian Federation 6I.N. Ul’yanov Cheboksary State University, Cheboksary, Russian Federation 7North State Medical University, Arkhangelsk, Russian Federation This paper reviews the effects of vitamin D deficiency on pregnant women and newborns. It was demonstrated that vitamin D deficiency in pregnant women is associated with higher risks of threatened preterm labor, placental insufficiency, preeclampsia, gestational diabetes, bacterial vaginosis, and impaired uterine contractility as well as higher rate of C-sections. Vitamin D insufficiency in newborns is associated with inadequate bone mineralization and also results in metabolic disorders, hypocalcemic seizures, bronchopulmonary dysplasia, necrotic enterocolitis, sepsis, mental and developmental disorders, and higher risks of various (infectious, allergic etc.) disorders. Optimal vitamin D dosing regimen in pregnant women and newborns is discussed. Keywords: pregnancy, vitamin D, vitamin D insufficiency, newborn, complications of pregnancy, preeclampsia, gestational diabetes. For citation: Zakharova I.N., Mal’tsev S.V., Zubkov V.V. et al. Effect of vitamin D on the pregnancy and the health of newborns and infants: state-of-the-art. Russian Journal of Woman and Child Health. 2020;3(3):174–181. DOI: 10.32364/2618-8430-2020-3-3-174-181. </p

Vitamin D, low birthweight preterm and full-term newborns: time for a paradigm shift

I.N.&nbsp;Zakharova1, S.V.&nbsp;Mal’tsev1, V.V.&nbsp;Zubkov2, V.A.&nbsp;Kur’yaninova3, A.V.&nbsp;Dmitriev1,4, S.I.&nbsp;Malyavskaya5, L.I.&nbsp;Mal’tseva6, N.E.&nbsp;Verisokina3, L.Ya. Klimov3, E.N.&nbsp;Vasil’eva7, A.A.&nbsp;Krushel’nitskiy1, A.V.&nbsp;Makhaeva1, E.D.&nbsp;Zhdakaeva1, A.L.&nbsp;Zaplatnikov1 1Russian Medical Academy of Continuous Professional Education, Moscow,&nbsp;Russian Federation 2V.I.&nbsp;Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russian Federation 3Stavropol State Medical University, Stavropol, Russian Federation 4Ryazan State Medical University, Ryazan, Russian Federation 5North State Medical University, Arkhangelsk, Russian Federation 6Kazan State Medical Academy — branch of the Russian Medical Academy of Continuous Professional Education, Kazan, Russian Federation 7I.N.&nbsp;Ul’yanov Cheboksary State University, Cheboksary, Russian Federation This article discusses negative effects of vitamin D deficiency on low birthweight preterm and full-term newborns. Results of the studies on vitamin D provision to pregnant women and their newborn children are addressed. Vitamin D deficiency is highly prevalent in pregnant women and newborns. It was demonstrated that inadequate antenatal provision of a fetus with vitamin D may result in congenital rickets and neonatal seizures due to hypocalcemia in newborns and also accounts for increased rates of necrotic enterocolitis, bronchopulmonary dysplasia, and impaired growth and development as well as higher risk of lower respiratory tract infections (i.e., bronchiolitis, pneumonia) during the first year of a child’s life. In addition, it was shown that persistent vitamin D deficiency in future years may be associated with recurrent respiratory infections, allergic (e.g., atopic dermatitis, asthma, etc.), autoimmune, endocrine, and psycho-neurological disorders. Prev entive and therapeutic strategies for vitamin D deficiency in low birthweight preterm and full-term newborns since neonatal period are discussed. Keywords: vitamin D, vitamin D deficiency, calcidiol, low birthweight newborn, preterm newborn, full-term newborn. For citation: Zakharova I.N., Mal’tsev S.V., Zubkov V.V. et al. Vitamin D, low birthweight preterm and full-term newborns: time for a paradigm shift. Russian Journal of Woman and Child Health. 2020;3(2):142–148. DOI: 10.32364/2618-8430-2020-3-2-142-148. </p

Deficit of magnesium and states of hypercoagulation: Intellectual analysis of data obtained from a sample of patients aged 18-50 years from medical and preventive facilities in Russia

The states characterized by pronounced hypercoagulable components (deep vein thrombosis, cardio-and cerebro-vascular pathologies) are caused by multiple pathophysiological factors, including insufficient supply of magnesium (Mg) and other micronutrients. Aim: to present results of analysis of the Institute of Microelements Data Base (IMDB) performed from point of view of interrelationships of Mg deficit and hypercoagulable states in adults treated in medico-preventive facilities of Central, Northwestern, Northern, and Siberian federal districts of Russia. Methods. The analysis was realized as analysis of data obtained in a cross-sectional study. In the cohort of patients (n=1453) formed from the IMBD adequacy of Mg supply was assessed by magnesium levels in blood plasma (Mg BP) (0.69±0.15 mmol / L) and estimates of daily Mg consumption according to dietary diaries (Mg D) (185±90 mg / day). Results. Mg supply was adequate (Mg BP >0.80 mmol / L, Mg D >300 mg / day) in not more than 6 % of patients. Presence of "Hypercoagulation" label in data base was associated with greater number of chronic diseases (2.3±2.1 and 0.83±0.8 with and without this label, respectively, p=0.0006) and elevated risk of the presence on 4 comorbid pathologies (odds ratio [OR] 18, 95 % confidence interval [CI] 10-25, p=0.0006). Mg deficit (Mg BP <0.70 mmol / L) was associated with hypercoagulable states (OR 5.42, 95 % CI 1.83-16, p=0.0006), neurologic pathologies (partial epilepsy, vertigo, alcohol dependence syndrome, obsessive-compulsive disorder) and pathologies related to chronic inflammation (ulcerative colitis, allergy, ischemic heart disease). Blood hypercoagulation was associated with prescription of drugs capable to provoke hypercoagulable states and simultaneously Mg deficit: androgens and anabolic steroids (OR 4.00, 95 % CI 1.88-8.50, p=0.00008), immunodepressants (OR 5.16, 95 %CI 1.96-13.58, p=0.0002), tetracyclic antidepressants (OR 4.47, 95 %CI 1.54-13, p=0.0026), estrogen containing oral contraceptives (OR 3.3, 95 %CI 1.5-6.2, p=0.0028), and antibiotics (OR 1.80, 95 %CI 1-3.36, p=0.058). Lowered Mg BP levels were associated with augmented sensation of pain, lowering of efficacy of analgesia, and with more pronounced cutaneous lesions. Conclusion. Thus, regular intake of magnesium preparations is indicated for the vast majority of adult patients in medico-preventive facilities especially to those with hypercoagulation and polypragmasy. © 2018 Media Sphera Publishing Group.All right reserved

Analysis of 19.9 million publications from the PubMed/MEDLINE database using artificial intelligence methods: Approaches to the generalizations of accumulated data and the phenomenon of “fake news” [Анализ 19,9 млн публикаций базы данных PubMed/MEDLINE методами искусственного интеллекта: подходы к обобщению накопленных данных и феномен “fake news”]

Introduction. The English-language databases PubMed/MEDLINE and Embase are valuable information resources for finding original publications in basic and clinical medicine. Currently, there are no artificial intelligence systems to evaluate the quality of these publications. Aim. Development and testing of a system for sentiment analysis (i.e. analysis of emotional modality) of biomedical publications. Materials and methods. The technique of analysis of the “Big data” of biomedical publications was formulated on the basis of the topological theory of sentiment analysis. Algorithms have been developed that allow for the classification of texts from 16 sentiment classes with 90% accuracy (manipulative speech, research without positive results, propaganda, falsification of results, negative personal attitude, aggressive text, negative emotional background, etc.). Based on the algorithms, a scale for assessing the sentiment quality of research (β-score) is proposed. Results. Abstracts of 19.9 million publications registered in PubMed/MEDLINE over the past 50 years (1970–2019) were analyzed. It was shown that publications with low sentiment quality (the value of the β-score of the text is less than zero, which corresponds to the prevalence of manipulative and negative sentiments in the text) comprise only 18.5% (3.68 out of 19.9 million). The greatest values of the β-score were characterized by publications on sports medicine, systems biology, nutrition, on the use of applied mathematics and data mining in medicine. The rubrication of the entire array of publications by 27,840 headings (MESH-system of PubMed/MEDLINE) indicated an increase in the β-score by years (i.e., the positive dynamics of sentiment quality of the texts of publications) for 27,090 of the studied headings. The most intense positive dynamics was found for research in genetics, physiology, pharmacology, and gerontology. 249 headings with sharply negative dynamics of sentiment quality and with a pronounced increase in the manipulative sentiments characteristic of the tabloid press were highlighted. Separate assessments of international experts are presented that confirm the patterns identified. Conclusion. The proposed artificial intelligence system allows a researcher to make an effective assessment of the sentiment quality of biomedical research papers, filtering out potentially inappropriate publications disguised as “evidence-based”. Copyright © 2020, Farmakoekonomika. All rights reserved