bluuebunny/crossref_metadata_2025 huggingface dataset:
Diseases with major salivary glands enlargement and orbits, nose and paranasal sinuses lesions in the practice of a rheumatologist
Authors: Sokol E. V. , Torgashina A. V. , Chaltsev B. D. , Khvan Yu. I. , Golovina O. A.
Published: December 2021

Objective: to analyze the nosological spectrum, demographic, clinical and laboratory characteristics of diseases with a significant enlargementof major salivary (SG) / lacrimal glands, and/or accessory organs of the eye and paranasal sinuses lesions in rheumatological practice.

Patients and methods. This work includes 73 patients who underwent a complex clinical and laboratory, imaging, pathomorphological and histomolecular examination, which was necessary to establish a nosological diagnosis. In all cases, the diagnosis was confirmed pathomorphologically.

Results and discussion. Sjogren's syndrome (SjS) was diagnosed in 30 (41%) patients (14 of them developed lymphoproliferative disorder, LPD, as a complication), granulomatosis with polyangiitis (GPA) – in 12 (16.4%), IgG4-related disease (IgG4-RD) – in 10 (13.7%), sarcoidosis – in 6 (8.2%), non Langerhans cell histiocytosis – in 2 (2.7%), AL-amyloidosis – in 1 (1.4%), Warthin's tumor – in 1 (1.4%), chronic atrophic rhinitis – in 1 (1.4%), infectious lesions – in 3 (4.1%) (HIV-associated – in 2, dirofilariasis – in 1), idiopathic inflammatory pseudotumor – in 6 (8.2%). In 1 (1.4%) patient, the diagnosis could not be established.

A massive increase of major SG was observed in 46 patients, more often (in 28 cases) with SjS with LPD or without it, with IgG4-RD (in 7) and sarcoidosis (in 6). Orbital lesions were observed in 18 patients: in 7 with IgG4-RD, in 5 with idiopathic inflammatory pseudotumor, in 2 with sarcoidosis, in 2 with GPA, and in 1 each with non Langerhans cell histiocytosis and dirofilariasis. Nasal lesions in the form of chronic rhinosinusitis with or without nasal septum perforation, were found in 18 patients, 12 of whom suffered GPA and 6 – IgG4-RD.

Two algorithms, that can facilitate the choice of additional studies and the direction of diagnostic search have been proposed for practicing rheumatologists.

Conclusion. Taking into account the possible similarity of clinical manifestations of the diseases with the formation of mass-like tissue, the differential diagnosis should be based on pathomorphological study.
Comparative effectiveness of intra-articular administration of different drugs of hyaluronic acid with various physico-chemical properties in knee osteoarthritis
Authors: Belyaeva E. A. , Fatenko A. S. , Avdeeva O. S. , Belyaeva S. V.
Published: December 2021

Knee osteoarthritis (KOA) is a chronic disease that leads to a significant deterioration in the quality of life and disability. In the treatment of OA, hyaluronic acid (HA) drugs have an important place.

Objective: to compare the effectiveness of ROA treatment with different HA drugs with different physicochemical properties and molecular weight.

Patients and methods. A 12-week prospective randomized study of the comparative efficacy of a single intra-articular injection of three HA drugs – Armaviscon Forte (AF), Flexotron Cross (FCr) and Flexotron Ultra (FUL) was carried out. The study group consisted of 90 patients with knee osteoarthritis, aged from 43 to 50 years (the majority were women – 63.3%) with an initial severity of pain >40 mm according to the visual analogue scale (VAS). The result of therapy was assessed by the dynamics of pain (VAS), WOMAC index, and subjective assessment of the effect 3 months after intra-articular administration of HA.

Results and discussion. Eight patients dropped out of the study: in the AF group – 3, FCr – 4, FUL – 1. After 90 days, the decrease in pain compared to baseline values in the AF group was 30%, in FCr – 46% and in FUL – 57% (p ≤0,05), and the dynamics of the WOMAC index – 27, 36, and 42%, respectively. After 90 days, 85.0, 93.4 and 96.5% of patients noted improvement and significant improvement in the AF, FCr and FUL groups, respectively. No serious adverse events were recorded.

Conclusion. All investigated drugs demonstrated high analgesic potential, but the best clinical effect was observed with FUL.
Association of the Q141K polymorphism of the ABCG2 gene with the effectiveness of urate-lowering therapy in patients with gout (a pilot study)
Authors: Eliseev M. S. , Chikina M. N. , Guseva I. A. , Zhelyabina O. V. , Samarkina E. Yu. , Konovalova N. V. , Varlamov D. A.
Published: December 2021

Achieving the target serum uric acid (UA) level is a priority in the treatment of gout.

Objective: to study the relationship of the ABCG2 gene polymorphism (rs2231142) with the efficacy of allopurinol and febuxostat in patients with gout.

Patients and methods. The study included 82 patients with gout over 18 years of age with serum UA level >360 μmol/L who did not take uratelowering therapy.

All patients were prescribed allopurinol 100 mg daily, followed by its titration until the target UA level was reached (<360 μmol/L or <300 μmol/L in patients with chronic tofus gout), up to a maximum of 900 mg/day, in patients with glomerular filtration rate <60 ml/min/1.73 m2 – up to 300 mg/day. Patients who did not reach the target UA level when using allopurinol were prescribed febuxostat 80 mg/day, which, if necessary, was increased to 120 mg/day. Monitoring of each patient was continued until the target serum UA level was reached.

All patients underwent genotyping of the C>A polymorphism (rs2231142) of the ABCG2 gene. We compared the probability of achieving the target UA level, the mean values of a decrease in the serum UA level, and the mean doses of urate-lowering drugs in patients with different genotypes (CC, CA, AA) of the ABCG2 gene.

Results and discussion. The target UA level in 45 (55%) of 82 patients was defined as <300 μmol/L, in the remaining 37 – as <360 μmol/L.

In 26 patients, the dose of allopurinol did not exceed 300 mg/day. In 28 (34%) patients treated with allopurinol, the target UA level was achieved, in the remaining 54 (66%) patients, allopurinol was substituted by febuxostat, and in 22 (41%) of them the UA level decreased and was below the target.

The CC genotype of the ABCG2 gene was detected in 51 (62%) patients, the CA genotype in 30 (37%) and the minor genotype AA in 1 (1%).

The probability of achieving the target UA level during therapy with allopurinol in carriers of homozygous CC genotype and genotypes CA or AA did not differ: 17 (33%) and 11 (35%) cases, respectively, but patients with CA and AA genotypes required a significantly higher dose of allopurinol (365±102 mg/day) than patients with the CC genotype (290±85 mg/day), p=0.002. Of the 54 patients who took febuxostat and did not reach the target UA level, 30 (56%) had the CC genotype and 24 (44%) had the CA genotype, the probability of reaching the target UA level was also comparable (p=0.22).

Conclusion. The probability of reaching the target serum UA level in patients with gout taking allopurinol is not associated with the C>A polymorphism of the ABCG2 gene, but the presence of CA and AA genotypes is identified with a higher dose of the drug. The C>A (rs2231142) polymorphism of the ABCG2 gene does not affect the ability to achieve the goal of therapy when using febuxostat in patients with allopurinol ineffectiveness.
Clinical significance of leptin in systemic lupus erythematosus
Authors: Kondratyeva L. V. , Panafidina T. A. , Popkova T. V. , Gorbunova Yu. N. , Cherkasova M. V.
Published: December 2021

Objective: to study the frequency of hyperleptinemia in patients with systemic lupus erythematosus (SLE), its relationship with clinical and laboratory manifestations of the disease, drug therapy, and other metabolic disorders.

Patients and methods. The cross-sectional study included 46 women with a definite diagnosis of SLE (median age 40 [31; 48] years) and disease duration 3.0 [0.9; 9.0] years. Glucocorticoids (GC) were received by 38 (83%) patients, hydroxychloroquine – by 35 (76%), immunosuppressants – by 10 (22%), biologic disease-modifying antirheumatic drugs – by 5 (11%). In all patients, fasting levels of glucose, leptin, apoliproprotein B (ApoB) and immunoreactive insulin were determined, and homeostatic model assessment for insulin resistance (HOMA-IR) was calculated. Concentration of leptin ≥11.1 ng/ml, ApoB – >1.6 mg/ml were considered an elevated level. HOMA-IR index ≥2.77 corresponded to the presence of insulin resistance (IR).

Results and discussion. Hyperleptinemia was found in 34 (74%) patients with SLE, an increased level of ApoB – in 19 (41%), IR – in 10 (22%). In patients with hyperleptinemia, serositis, positivity for anti-double-stranded DNA (aDNA) and hypocomplementemia were less common, overweight and obesity were more frequent, the SLEDAI-2K index was lower, the aDNA level was lower, and the concentration of the C3 component of complement, insulin, HOMA-IR index, body mass index (BMI) and disease duration were higher (p<0.05 for all cases). BMI <25 kg / m2 had 26 (57%) women, 14 (54%) of whom had hyperleptinemia. In patients with BMI <25 kg / m2, we found a relationship between leptin concentration and disease duration (r=0.4, p=0.04), SLE activity according to SLEDAI-2K (r=-0.6, p=0.003), levels of aDNA (r=-0.6, p<0.001), C3 component of complement (r=0.5, p=0.01), maximum (r=0.7, p<0.001) and supporting (r=0,5, p=0.023) GC doses.

In patients with BMI ≥25 kg/m2 (n=20), no such relationship was observed.

Conclusion. Hyperleptinemia was found in the majority of women with SLE; elevated levels of ApoB and IR were much less common. Patients with hyperleptinemia are characterized by a longer duration and less activity of the disease, as well as the presence of overweight and obesity and an increase in the HOMA-IR index. In SLE patients with normal body weight, the concentration of leptin increased along with GC dose elevation.
Current issues in the management of patients with HIV infection and rheumatic diseases
Authors: Gridneva G. I. , Belov B. S.
Published: December 2021

According to experts, the human immunodeficiency virus (HIV) epidemic has a steady downward trend, but the attention of the medical community to this problem is not waning. Before the introduction of highly active antiretroviral therapy, the prevalence of rheumatic manifestations in HIV-infected patients ranged from 3 to 71% and was associated with late stages of infection and severe immunosuppression. HIV-associated arthritis, reactive arthritis, psoriatic arthritis, arthralgias and diffuse infiltrative lymphocytosis syndrome are the most common rheumatic pathologies in HIV. Most people with HIV and musculoskeletal inflammatory disease respond well to NSAIDs, opioids, and basic anti-inflammatory drugs. In cases that are torpid to the abovementioned treatment, the use of biologic disease-modifying antirheumatic drugs may be required.

The lecture summarizes modern data on the features of the course and treatment of immunoinflammatory rheumatic diseases in HIV infection.
Biologic disease-modifying antirheumatic drugs in the treatment of major monogenic autoinflammatory diseases: literature review and clinical observation
Authors: Salugina S. O. , Fedorov E. S.
Published: December 2021

Autoinflammatory diseases (AIDs) are a heterogeneous group of rare genetically determined conditions, the main manifestations of which are episodes of fever in combination with other signs of systemic inflammation: skin rashes, musculoskeletal and neurological disorders, damage to the organs of vision, hearing, etc., as well as acute phase markers and the absence of autoantibodies. The use of biological therapy, especially inhibitors of interleukin 1 (iIL1), in most common monogenic AIDs (mAID) – FMF, TRAPS, HIDS/MKD, CAPS – has shown its high efficiency and led to significant progress in the treatment of these patients. Currently, iIL1 are the first-line drugs for mAIDs therapy, primarily CAPS. In the case of their ineffectiveness or intolerance in certain situations, other biologic disease-modifying antirheumatic drugs can also be used – inhibitors of tumor necrosis factor α and iIL6, but this issue needs further investigation. The article describes a patient with mAID, in whom the diagnosis was made more than 40 years after the onset; administration of targeted therapy even in the late stages of the disease led to a significant improvement in many symptoms and quality of life.
Treatment of noncognitive neuropsychiatric disorders in Alzheimer's disease
Authors: Lokshina A. B. , Grishina D. A.
Published: December 2021

Alzheimer's disease (AD) is the most common neurodegenerative disease, which is caused by cerebral amyloidosis. Noncognitive neuropsychiatric disorders (NСNPDs) include emotional, behavioral disorders, as well as psychotic symptoms. NСNPDs are almost an obligatory manifestation of this disease, accompany cognitive impairment and are detected at all stages of the disease – from preclinical to the severe dementia stage. As an example, we present a case report of a female patient with mild dementia in AD in whom Akatinol memantine administration resulted in the stabilization of a cognitive defect within one year and a decrease in the severity of emotional and behavioral disorders. The article discusses the indications and contraindications for antipsychotic administration in this disease, NСNPDs treatment in AD, which includes nonpharmacological and pharmacological methods. Accurate analysis of NСNPDs allows to predict the disease course, optimize the treatment, and thereby improve the quality of life of the patient and his relatives and caregivers.
Post-release of the symposium «How to Deal with Pain in the 21st Century? Expert Opinions» (November 8, 2021, XII Interdisciplinary International Congress «Manage Pain»)
Authors: Ostroumova T. M.
Published: December 2021

The article presents the chronology of the symposium «How to Deal with Pain in the 21st Century? Experts' opinions», which took place on November 8 during the XII interdisciplinary international congress «Manage Pain». The lectures discussed issues of non-steroidal anti-inflammatory drugs (NSAIDs), including etoricoxib (Atorika tabs), administration on the example of a clinical case, problems of terminology associated with the concepts of «lumbago» and «sciatica», rare clinical syndromes (for example, heavy-purse syndrome) that we need to differentiate nonspecific back pain with, strategies for choosing NSAIDs in patients with osteoarthritis, the importance of timely administration of NSAIDs in the prevention of chronic pain syndromes, the influence of emotional and cognitive factors on the back pain chronization. The benefits of etoricoxib (Atorika) in the treatment of chronic back pain were reviewed, as well as the evidence for its safety.
Treatment of mixed anxiety and depressive disorder: results from a observational study of the efficacy and tolerability of agomelatine
Authors: Petelin D. S. , Niinoya I. V. , Sorokina O. V. , Troshina D. V. , Voskresenskaya O. N. , Volel B. A.
Published: December 2021

Objective: to study the efficacy, safety and tolerability of agomelatine in mixed anxiety and depressive disorder.Patients and methods. Agomelatine was administered to 30 patients diagnosed with mixed anxiety and depressive disorder for 3 months. The patients' condition was assessed using a battery of psychometric methods – the Hamilton Depression Scale, the Hamilton Anxiety Scale, and a short form of the SF-12v2 quality of life questionnaire.Results and discussion. It was shown that agomelatine effectively reduces both symptoms of depression and anxiety, begins to have a therapeutic effect a week after the start of administration, however, the drug shows the best clinical effect when administered for a period of three months or more. The predictors of complete remission on agomelatine therapy in this sample were: the presence of sleep disorders (early and medium, but not late insomnia), a greater severity of somatized anxiety, the presence of complaints of decreased workplace performance and activity.Conclusion. Our study has shown that agomelatine is an effective, safe and well-tolerated drug in the treatment of mixed anxiety and depressive disorder.
Efficacy and safety of anti-CGRP(r) monoclonal antibodies in real clinical practice: preliminary analysis after three months of therapy
Authors: Vashchenko V. N. , Korobkova D. Z. , Skorobogatykh K. V. , Azimova Yu. E.
Published: December 2021

Monoclonal antibodies inhibiting calcitonin gene related peptide (CGRP) or its receptor have been widely used for migraine prophylactic therapy for the past three years. Evaluation of their efficacy and safety of therapy in real clinical practice is needed.Objective: to evaluate the efficacy and safety of Erenumab, a monoclonal antibody inhibiting the CGRP receptor during three months of therapy.Patients and methods. Sixty-eight patients (58 women and 10 men, mean age 37±10.4 years) with episodic or chronic migraine who were treated with Erenumab were observed. Patients were assessed with MIDAS, WPAI, and HADS scales; the presence of cutaneous allodynia was evaluated with ASC-12 questionnaire. Patients kept a headache diary and marked adverse events during the whole treatment period.Results and discussion. 47 patients (69%) had chronic migraine and 32 (71.9%) had medication overuse headache. In 48 patients (70%) after 3 injections of Erenumab the number of days with migraine decreased by 50% or more. In 7 patients (10%), the reduction in headache days was more than 75%; 20 (29%) did not experience sufficient effect after three months of therapy. Nineteen adverse events were noted in 15 (22%) patients. Severe constipation led to discontinuation of treatment in two patients (3%).Conclusion. The study showed the efficacy and safety of Erenumab for migraine prophylaxis in both patients with episodic and chronic migraine.
Possibilities of using amantadines in the setting of the novel coronavirus infection in patients with Parkinson's disease
Authors: Katunina E. A. , Bezdolnyi Yu. N. , Shipilova N. N.
Published: December 2021

The novel coronavirus infection pandemic prompted not only the development of vaccines, but also the study of the effectiveness of already known drugs with antiviral activity. These drugs include adamantanes.Objective: to assess possible mechanisms of antiviral action of amantadine and memantine.Patients and methods. The study included 75 patients with Parkinson's disease (PD): 49 (65.3%) women and 26 (34.7%) men. The age of the patients ranged from 37 to 88 years (mean age: 65±7 years). The duration of the disease varied from 1 to 25 years (mean 12±7 years). Among the monitored PD patients, 22 (29.3%) had a novel coronavirus infection. Of 22 patients with coronavirus infection, 8 (36.4%) patients received adamantanes (four – amantadine sulfate, three – amantadine hydrochloride, one – memantine) in the complex therapy of PD for at least 3 months. On average, the duration of adamantane administration was 8±5 months.Results and discussion. PD patients who received adamantanes were less likely to develop COVID-19 than those who did not take adamantanes (p<0.05). At the same time, there were no significant differences in gender, age, duration of the disease and concomitant pathology in the com pared groups (p>0.05). Among patients who received adamantanes, the disease proceeded more easily, the number of cases of pneumonia was 3 times less (odds ratio 3; 95% confidence interval 0.44–20.3). In this group, no lethal outcomes were recorded, however, due to the small sample of patients, the differences between the groups were not statistically significant (÷2=1.99; p>0.05).Conclusion. The results of a retrospective study showed that the use of amantadine and memantine in patients with PD may have an effect on reducing morbidity and mortality in the novel coronavirus infection. This is consistent with published clinical observations suggesting a possible protective effect of amantadine and memantine against coronavirus infection.
New in understanding the burden of migraine: semantic analysis of the voice of Russian patients – users of Web 2.0
Authors: Tabeeva G. R. , Katsarava Z. , Amelin A. V. , Sergeev A. V. , Skorobogatykh K. V. , Efimenko I. V. , Khoroshevskiy V. F.
Published: December 2021

Migraine is the second leading cause of maladjustment, and the burden of migraine is determined by its impact on work ability, social activity and family relationships.Objective: to identify the patterns of behavior of Russian patients with migraine, factors affecting their quality of life, and the level of awareness of the disease based on a semantic analysis of messages in Web 2.0.Patients and methods. The study is based on the results of semantic processing (automated analysis of natural language texts, taking into account their meaning) of anonymized messages from 6566 unique authors (patients and their relatives) from social networks and forums (over 73 thousand messages over 10 years, 2010–2020). In addition, the study was carried out exclusively according to the data indicated in the messages. In this regard, complete data for several parameters was not available for analysis. No personal data about the authors of the messages was collected or used. The sex was determined based on the text of the analyzed message. For the study, only open data from the Internet from social networks and forums was used.Results and discussion. A landscape of problems of persons complaining of migraine issues was formed. Factors affecting the quality of life were grouped into four main groups (“Lifestyle restrictions by triggers of migraine attacks”, “Loss of opportunity to work”, “Serious psychological problems”, “Family planning issues”); additional, rarer, but acute problems were also identified. The analyzed messages show that the average number of days with migraines is 9.4 per month; 21.8% of patients report daily migraines. Moreover, most patients have been suffering from attacks for 10 years or more, and 9% of patients – for 30 years or more. The analysis of diagnostic patterns showed that in most cases, patients independently resorted to additional examination methods, while only 13.1% of patients had experience of adequate preventive therapy.Conclusion. The study demonstrated the presence of a wide range of unmet needs, quality of life problems both in patients themselves and their caregivers, as well as a significant social and economic burden of this disease (including a long-term burden on the economy, which can be used as arguments for reimbursing the cost of migraine therapy) based on the text messages on migraine in open sources on the Internet.
The Effect of Black Garlic (Allium sativum Linn) on Cardiac and Aortic Histopathology in Experimental Studies in Obesity Rats
Authors: Setiawan Andreas Arie , Purnomo Fairuz Azmila , Karlowee Vega , Wijayahadi Noor
Published: December 2021

ABSTRACTBackground: Obesity is a disorder or disease characterized by the accumulation of excess fat in the body due to an imbalance in energy intake that is used for a long time. Accumulation of fat can reduce adiponectin, causing cardiac hypertrophy, endothelial vasodilation, and other cardiovascular diseases. Black garlic have high antioxidants in the form of S-Allylcysteine(SAC) which functions to increase adiponectin. Objective: To determine the effect of Black garlic on the histopathological picture of the heart and aorta of obese rats. Methods: This study was an experimental study with a randomized post-test only design with control group design with 5 groups of male white rats Sprague Dawley (Rattus novergicus) fed High Fat Fructose. Diet (HFFD) enriched with 1.25% cholesterol and 0.5% cholic acid for 8 weeks and was given black garlic intervention at doses of 450 mg / 200BW, 900mg / 200BW and 1350mg200 / BW for 4 weeks. Results: Giving black garlic significantly reduced body weight of rats (p = 0.001), and the results did not significantly reduce heart weight (p = 0.147), aortic weight (p = 0.061), histopathological changes in heart wall thickness (p = 0.423) and aortic wall thickness (p = 0.802). The effective doses of black garlic in this study were 450 mg / 200 grams BW, 900 mg / 200 grams rat BW and 1350 mg / 200 grams BW of rats. The optimal dose is 900 mg / 200 grams BW. Conclusion: Black garlic gave a significant reduction in body weight of rats and no significant reduction in heart weight, aortic weight, cardiac and aortic histopathological features.
Adiponutrin and Adiponectin Gene Variants in Indonesian Patients with Non-Alcoholic Fatty Liver Disease: a Preliminary Study
Authors: Meagratia Rayvita AN , Cayami Ferdy Kurniawan , Bahrudin Udin , Lestari Wiwik , Maharani Nani , Faradz Sultana MH , Purnomo Hery Djagat
Published: December 2021

BackgroundVariants of adiponutrin (PNPLA3) and adiponectin (ADIPOQ) genes were considered to be associated with non-alcoholic fatty liver disease (NAFLD). Although the prevalence of NAFLD is increasing, there are limited numbers of studies about the association in Indonesian population.ObjectiveTo confirm whether specific variants of adiponutrin (PNPLA3) and adiponectin (ADIPOQ) genes are associated with NAFLD in Indonesian patients.MethodsData and DNA of 152 participants were obtained from a previous study in Dr. Kariadi Hospital, Semarang, Indonesia. PCR-RFLP analysis was performed for detection of PNPLA3 rs738409 and ADIPOQ rs2241767 variants. The diagnosis and severity of NAFLD were assessed according to NAFLD activity score (NAS) based on histopathology assessment of liverbiopsy.ResultsAllele G of PNPLA3rs738409 was associated with NAFLD in both bivariate (p=0.009, OR 2.52, CI 95% 1.25–5.07) and multivariate (p=0.008, OR 2.62, CI 95% 1.29%–5.32%) analysis, while ADIPOQ rs2241767 had no significant association. In NAFLD participants, both genotypes showed allele G was higher in the group of possible non-alcoholic steatohepatitis (NASH) – NASH (NAS >2) than in the simple steatosis group (NAS <2) i.e. 40.0% vs. 3.75% for the rs2241767 variant and 23.75% vs. 1.25% for the rs738409 variant, without significant association.ConclusionVariant PNPLA3 rs738409 was associated with NAFLD incidence in studied population. Among NAFLD participants, the frequency of both variants were found higher in the possible NASH – NASH group, yet needs to be confirmed with more participants and a multicenter study.Data and DNA of 152 participants were obtained from a previous study in Dr. Kariadi Hospital, Semarang, Indonesia. PCR-RFLP analysis was performed for detection of PNPLA3 rs738409 and ADIPOQ rs2241767 variants. The diagnosis and severity of NAFLD were assessed according to NAFLD activity score (NAS) based on histopathology assessment of liverbiopsy.
10 Jahre Gendiagnostikgesetz – wie kann die Vernichtungspflicht für Ergebnisse genetischer Analysen und Untersuchungen praktisch umgesetzt werden?
Authors: Heidemann Simone
Published: December 2021

Am 1. Februar 2020 wurde das Gendiagnostikgesetz (GenDG) 10 Jahre alt. Damit unterliegen jetzt erstmals Ergebnisse genetischer Analysen und Untersuchungen nicht nur der in der Medizin üblichen 10jährigen Aufbewahrungspflicht, sondern nach deren Ablauf auch der Pflicht zur umgehenden Vernichtung. Bereits bei Inkrafttreten des GenDG am 1. Februar 2010 warf die Vernichtungspflicht nach § 12 Fragen auf, die spätestens seit erstmaligem Ablauf der 10jährigen Aufbewahrungspflicht am 1. Februar 2020 dringend einer Klärung bedürfen. Sie betreffen nicht nur die praktische Umsetzung der Vernichtungspflicht, sondern auch deren Sinnhaftigkeit. Auch die Gendiagnostik-Kommission (GEKO) stellt in ihrem dritten Tätigkeitsbericht die Sinnhaftigkeit der Vernichtungspflicht aus verschiedenen Gründen in Frage und fordert, „den § 12 GenDG auf die Vernichtung von Ergebnissen genetischer Untersuchungen und Analysen zu beschränken, deren Mitteilung von den Betroffenen gemäß § 8 GenDG nicht gewünscht wird.“ (3. Tätigkeitsbericht der GEKO, Seite 39.) Solange jedoch § 12 GenDG in seiner jetzigen Fassung gilt, ist dessen Umsetzung für alle Beteiligten verpflichtend. Dabei sollten bestehende Ausnahmeregelungen großzügig in Anspruch genommen werden, um den Aufwand zu begrenzen und trotzdem den Zweck des Gesetzes zu erfüllen.
Insights into the genomics of affective disorders
Authors: Forstner Andreas J. , Hoffmann Per , Nöthen Markus M. , Cichon Sven
Published: December 2021

Affective disorders, or mood disorders, are a group of neuropsychiatric illnesses that are characterized by a disturbance of mood or affect. Most genetic research in this field to date has focused on bipolar disorder and major depression. Symptoms of major depression include a depressed mood, reduced energy, and a loss of interest and enjoyment. Bipolar disorder is characterized by the occurrence of (hypo)manic episodes, which generally alternate with periods of depression. Formal and molecular genetic studies have demonstrated that affective disorders are multifactorial diseases, in which both genetic and environmental factors contribute to disease development. Twin and family studies have generated heritability estimates of 58–85 % for bipolar disorder and 40 % for major depression.

Large genome-wide association studies have provided important insights into the genetics of affective disorders via the identification of a number of common genetic risk factors. Based on these studies, the estimated overall contribution of common variants to the phenotypic variability (single-nucleotide polymorphism [SNP]-based heritability) is 17–23 % for bipolar disorder and 9 % for major depression. Bioinformatic analyses suggest that the associated loci and implicated genes converge into specific pathways, including calcium signaling. Research suggests that rare copy number variants make a lower contribution to the development of affective disorders than to other psychiatric diseases, such as schizophrenia or the autism spectrum disorders, which would be compatible with their less pronounced negative impact on reproduction. However, the identification of rare sequence variants remains in its infancy, as available next-generation sequencing studies have been conducted in limited samples. Future research strategies will include the enlargement of genomic data sets via innovative recruitment strategies; functional analyses of known associated loci; and the development of new, etiologically based disease models. Researchers hope that deeper insights into the biological causes of affective disorders will eventually lead to improved diagnostics and disease prediction, as well as to the development of new preventative, diagnostic, and therapeutic strategies. Pharmacogenetics and the application of polygenic risk scores represent promising initial approaches to the future translation of genomic findings into psychiatric clinical practice.
Grundlagen und aktueller Stand des Neugeborenen-Screenings auf angeborene Störungen des Stoffwechsels, des Hormon- und Immunsystems in Deutschland
Authors: Nennstiel Uta , Tönnies Holger
Published: December 2021

Seit der Einführung des flächendeckenden Neugeborenen-Screenings auf Phenylketonurie Ende der 60er Jahre in Deutschland, ist die Anzahl der Zielerkrankungen im sogenannten erweiterten Neugeborenen-Screening (ENS) stetig gestiegen. Aufgrund neuer diagnostischer Möglichkeiten, sowie neuer therapeutischer Ansätze bei schweren, seltenen Erkrankungen z. B. des Stoffwechsels, wird die Anzahl der Zielkrankheiten absehbar weiter steigen. Diese werden, unter Berücksichtigung der im vorliegenden Beitrag beschriebenen Grundvoraussetzungen, entweder Teil des erweiterten Neugeborenen-Screenings oder als eigenständiges Screening Teil der Sekundärprävention in Deutschland sein. Dieser Beitrag soll einen Überblick über Grundlagen des etablierten Neugeborenen-Screenings liefern sowie Einblicke in die Voraussetzungen für die Einführung neuer Zielerkrankungen in das Neugeborenen-Screening in Deutschland ermöglichen.
Oral-History-Projekt Humangenetik: Historische Forschungsmethode zur Erhebung und Weiterverarbeitung narrativer Interviews
Authors: Söhner F. , Fangerau H. , Krischel M.
Published: December 2021

Zwischen 2016 und 2018 wurden mit 33 Personen Interviews zur Geschichte der Humangenetik in Deutschland zwischen 1970 und den 2000er Jahren geführt. 29 Interviewte stimmten einer wissenschaftlichen Analyse zu. Diese Interviews wurden mit den Methoden der qualitativen Inhaltsanalyse und der Grounded Theory ausgewertet. Im Zentrum dieses Beitrags steht die kritische Auseinandersetzung mit der Methode der Oral History und ihrer Anwendung auf die Humangenetik. Das Oral-History-Projekt konzentriert sich auf Fragen zu (1) biographischen Daten und Werdegang der Gesprächspartner*innen, (2) Entwicklung und Anwendung von diagnostischen und therapeutischen Techniken, (3) Etablierung und Ausbau der Institutionen der Humangenetik und (4) der Wahrnehmung der das Fach betreffenden gesellschaftlichen Debatten.
Physical analysis of TiO2 and bentonite nanocomposite as adsorbent materials
Authors: Bukit Nurdin , Ginting Eva Marlina , Frida Erna , Bukit Bunga Fisikanta
Published: December 2021

The research analyzed the physical properties of TiO2 and bentonite nanocomposite as adsorbent materials. The TiO2 synthesis method was carried out through a sol–gel process. Meanwhile the synthesis of bentonite was carried out by the ball mill, coprecipitation and addition of cetyltrimethylammonium bromide (CTAB) surfactant. X-ray diffraction nanocomposite characterization showed that the particle size was 17.13 nm. Fourier transform infrared analysis showed the required absorption peak in photocatalysis because the OH group can react with holes and prevent electron–hole pair recombination. The morphology of the nanocomposite showed the occurrence of TiO2 pillarization in bentonite. The results of the X-ray fluorescence nanocomposite showed that the content of TiO2 and SiO2 was 65.22 and 17.4%, respectively.
Le grand livre de l’Afrique
Authors: Benkes Mihály
Published: December 2021

Benkes Mihály a következő művet mutatta be:

Nicolas Normand: Le grand livre de l’Afrique Chaos ou émergence au sud du Sahara ? Éd. Eyrolles, 2019
O ludičkoj kletvi u humornom diskursu internetskih žanrova
Authors: Predojević Željko
Published: December 2021

Rad je usmjeren na prikaz ironiziranja žanra kletve u humornom diskursu internetskih žanrova. Kletva je u kolektivnom pamćenju verbalni magijski
žanr što podrazumijeva izricanje zla nekome, a u humornom diskursu internetskih žanrova primjenjuje se na neočekivano iskustvo čime se stvara ironijski nesklad između onoga što žanr kletve pretpostavlja i njegove uloge u digitalnom folkloru. Osim ironiziranja žanra kletve, zamjećuje se i kletvi atipična uloga stvaranja humorna učinka u diskursu
internetskih žanrova. Ovakve šaljive inačice žanra kletve u digitalnom folkloru označene su terminom ludička kletva. Ludičke kletve su izrečene
u šali, ali u sebi čuvaju ostatke vjerovanja u magijsku moć riječi što je razvidno korištenjem kletvi imanentnih formulacija, a prije svega konektora dabogda. Njime se evocira izricatelju kletve imanentna želja nekome nanijeti zlo, no primjenjuje se u duhovitu kontekstu čime se osjećajem neskladnosti ili nepodudarnosti stvara humorni učinak. Istraživanje je usmjereno na korisničke profile mrežne stranice Mudrolije sa Twittera na društvenim mrežama Facebook i Instagram.
Contrasting phenological and demographic responses of Atlantic Puffin (Fratercula arctica) and Razorbill (Alca torda) to climate change in the Gulf of Maine
Authors: Major Heather L. , Durham Sarah E. , Fana Natalia , Rivers Joy E. , Diamond Antony W.
Published: December 2021

The Gulf of Maine is warming faster than most of the world’s ocean and is also the southern-most limit for nesting, cold-adapted Atlantic Puffin (Fratercula arctica) and Razorbill (Alca torda). Beginning in 1995, the Atlantic Laboratory for Avian Research has collected annual data on phenology, productivity, and fledgling body condition for puffins and Razorbills nesting at Machias Seal Island. Here, we aimed to quantify changes in these measures of breeding performance and assess whether they are related to environmental conditions. As predicted, we found that all measures of breeding performance (except puffin fledge date) have changed between 1995 and 2020, and in many cases, puffins and Razorbills are responding differently. Specifically, hatch date has retreated for puffins (occurring approximately 1 week later in 2011–2020 than in 1995–2004) and advanced for Razorbills (occurring approximately 1 week earlier in 2011–2020 than in 1995–2004). We found that environmental conditions were important predictors for measures of breeding performance, but importance of environmental conditions differ both between the species and among the measures of breeding performance. As the climate continues to warm, we expect continued changes in breeding performance of puffins and Razorbills. Further research is needed to understand the reasons for differences between the 2 species and the impacts of continued warming.
Determinant of Macro-Economics: Does Income Inequality Influence Happiness? Evidence From Indonesia
Authors: Furwanti Reni , Lestari Dini Maulana , Muflikha Muflikha , Wibowo Muhammad Ghafur
Published: December 2021

This research aims to see does income inequality determines the happiness of Indonesian. This is important because there is a unique condition where Indonesia to be one of the developing nations which have a complexity of the income inequality issue, but it still has a high happiness index rate. This research uses cross-sectional data consisting of multiple indicators of all the variables from 34 provinces of Indonesia such as inflation, unemployment, and government investment as the macroeconomic factors, which have a direct impact on income inequality as well as happiness index, and this research uses path analysis model.The result delineates that although macro economics variables and income inequality have negative correlation toward happiness of Indonesian, it it not fully effected on it because most happiness of Indonesians are coming from another aspect such as socio-culture and religiosity
Effectiveness Economic Welfare Through Bansos During Covid-19 in Payakumbuh City
Authors: Sufiawan Nur Ari , Iryani Nelvia
Published: December 2021

The purpose of this study was to determine the effectiveness of mitigating the economic vulnerability of the community through the allocation of social assistance during the Covid-19 pandemic in Payakumbuh City. The data used are primary data and secondary data. Collecting data in the form of observation, documentation and interviews with a sample size of 100 respondents. The analytical method used is descriptive qualitative. The results of the analysis show 1) the input aspect with an effectiveness ratio of 60% and 65% can be said to be quite effective, meaning that KPM is right on target and utilizes social assistance appropriately for the economic benefit of the community in the midst of the Covid-19 outbreak. 2)which consists of socialization and monitoring, each with an effectiveness ratio of 100%. 3) the output aspect of social welfare with an indicator of the level of fulfillment of needs where the percentage obtained is 74% in the category of economic welfare which is quite effective.
Pulmonary Artery Sling with Tracheal Stenosis Combined with A Large Ventricular Septal Defect in A Two-Month-Old Boy: A Case Report
Authors: Zhang Yi , Qian Yong jun
Published: December 2021

Pulmonary artery sling (PAS) is a rare congenital cardiovascular abnormality. In typical PAS patients, the left pulmonary artery (LPA) arises from the right pulmonary artery and passes between the trachea and esophagus, which possibly causes tracheal stenosis and some respiratory symptoms. PAS typically associates with other cardiovascular anomalies, which may cause difficulties to the treatment of patients. This report described a rare case of a two-month-old boy with PAS, VSD, and tracheal stenosis simultaneously and underwent procedures without tracheoplasty.
A NOVEL APPROACH TO CHARACTERIZING THE RELATIONSHIP BETWEEN ECONOMIC GROWTH AND ENERGY CONSUMPTION
Authors: CHEREVATSKYI Danylo , SMIRNOV Roman
Published: December 2021

At the macroeconomic level, the consumption of primary energy resources is a deterministic factor of economic development, which justifies the relevance and importance of introducing an appropriate mathematical model.Using the tools of data-driven dynamical systems and Hamiltonian mechanics, we determine the relationship between energy costs and the distance traveled by a particular national economy in the economic space.The basis for the calculations is the time series describing the evolution of a cumulative GDP, recalculated according to the original method from monetary units to linear geometric dimensions, and energy resources consumed over a fixed period of time.The relevance of the mathematic relationships so obtained is verified by comparing the model predictions with the empirical data produced by four national economies, namely those of Canada, Poland, Russia, and Ukraine. In all of the four cases the model demonstrated a nearly perfect fit to the actual data.The approach via approximation the evolutions of economic performance and energy consumption by parabolas proposed in the article lies the groundwork for developing a general theory that may be employed to analyze economic performance of a wide spectrum of national economies and world regions.
ЯНОШ КОРНАЇ ТА ЙОГО ПАМ'ЯТНА ТВОРЧІСТЬ
Authors: КОЛОДКО Гжегож Вітольд
Published: December 2021

Янош Корнаї – найвидатніший економіст соціалістичних і постсоціалістичних країн за останні 50 років. Він був всесвітньо відомим ученим, який залишив по собі величезну спадщину праць, опублікованих більш як 20 мовами. Його теорія системної нерівноваги в централізовано плановій економіці, концепція жорстких і м'яких бюджетних обмежень та економічного дефіциту мали революційне значення для наукового тлумачення процесів виробництва, розподілу і нагромадження капіталу в державних соціалістичних економіках. Особливо вагомим був його внесок у політичну економію соціалізму, курс якої він викладав у Гарвардському університеті. При аналізі соціалістичної системи Корнаї, по суті, задовольнявся описовим підходом, тоді як у працях, опублікованих після 1989 р., він акцентував увагу на нормативній економіці, пропонуючи напрями структурної реформи, інституційного будівництва і економічної політики в перехідному постсоціалістичному періоді. Велике значення має його остання книга, в якій порівнюється нерівновага, що характеризується дефіцитами при соціалізмі, з нерівновагою, характерною для надлишків при капіталізмі.Проаналізовано еволюцію теоретичної думки цього видатного економіста та її вплив на реальні економічні процеси. Надано полемічних коментарів щодо інтерпретації економічних і соціальних процесів, які відбуваються в Китаї.
Development of philosophical anthropology in Kyiv Weltanschauung School
Authors: Zahorodniuk Valerii
Published: December 2021

The article is dedicated to the development of philosophical anthropology in the Kyiv Weltanschauung School. It is shown that in studies devoted to this school there are certain differences. They concern both the time of the school's founding and its founders. The vast majority of researchers consider Volodymyr Shynkaruk to be the founder of the Kyiv Weltanschauung School and date its emergence in 1969, when the principles of Weltanschauung school were promulgated. At the same time, there is another point of view on the abolition of this school. Some researchers associate its appearance with the name of Pavlo Kopnin, who also had noticeable humanistic motives for philosophizing. Attempts to combine Weltanschauung and logical- epistemological approaches are also noticeable. In this connection it is talked about Kyiv Weltanschauung-Epistemological School. In my opinion, there are more reasons to consider Volodymyr Shynkaruk, the founder of the Kyiv Weltanschauung School, who initiated the study of man - the world of man, which is the core of the Weltanschauung .In Ukrainian philosophical thought, the anthropological turn Kyiv Weltanschauung School took place not on blank space. Representatives of this school, first of all its founder Volodymyr Shynkaruk, continued to some extent the tradition of "philosophy of heart" of H. Skovoroda and P. Yurkevich, on the other hand, their philosophical heritage strangely reflected the mainstream of modern philosophy, namely the turn from epistemology to anthropology, to the ontology of the world of human existence. It is necessary to distinguish between the understanding of philosophical anthropology in the narrow and broad sense. In a narrow sense, it is understood as a philosophical discipline that developed in the 20-30 years of the 20th century and is represented by the names Scheler, Helen, Plesner. In a broad sense, philosophical anthropology is a philosophical reflection on man in general. In this regard, such key problems of philosophical anthropology as human transcendence, its identity, goal-setting as a way of human self-realization are considered.
Economic Policy of the German Occupational Authority in the Kolomyia Region (According to the “Vollia Pokuttya” Newspaper 1941 – 1944)
Authors:   Ivan Franko National University of Lviv, Aftanas Andrii
Published: December 2021

This article examines the main aspects of the economic policy of the German administration within the Kolomyia region during 1941-1944. On the bases of „Vollia Pokuttya“ news, the directions of Germany economic governance in the agrarian and trade commercial sector were singled out. The economic policy pursued by the German occupation authorities in the Kolomyia region vividly reflected the general trend of expansionist use of industrial and human potential in the district of Galicia. This led to acts of disobedience and sabotage of grain supplies by the peasants and a harsh reaction from the authorities. Nazi officials pursued a similar policy in the cities. By allowing the resumption of business and cooperatives, the Germans hoped to gain the loyalty of local residents. However, support could not be achieved, as de facto control over the above institutions continued to be exercised by various governmental economic groups, which included all existing industrial organizations, craft associations, and consumer cooperatives. Mobilization and organization government measures concerning the departure of the population for job to the Reich were illuminated, and also described their life conditions and social-legal status. In particular, the goal of agricultural and handicraft courses, which operated in Kolomyia’s county, was analyzed. The paper highlights that the organization of professional education was suitable for pragmatic considerations of the Nazi administration, as military failures give the power a push to attract local population to spend active agricultural life. This study is the first attempt of complex assessment of economic policy of the German occupation regime in the mentioned terrains. Therefore, the results of this paper are important both for the further development of historical regionalism and in the context of studies devoted to the Second World War