Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2). We reviewed the literature and discussed the challenges and concepts of diagnosing MFS in adults. Ghent-1 proposed more stringent clinical criteria, which led to the confirmation of MFS in only 32%-53% of patients formerly diagnosed with MFS according to the Berlin nosology. Conversely, both the Ghent-1 and Ghent-2 nosologies diagnosed MFS, and both yielded similar frequencies of MFS in persons with a causative FBN1 mutation (90% for Ghent-1 versus 92% for Ghent-2) and in persons not having a causative FBN1 mutation (15% versus 13%). Quality criteria for diagnostic methods include objectivity, reliability, and validity. However, the nosology-based diagnosis of MFS lacks a diagnostic reference standard and, hence, quality criteria such as sensitivity, specificity, or accuracy cannot be assessed. Medical utility of diagnosis implies congruency with the historical criteria of MFS, as well as with information about the etiology, pathogenesis, diagnostic triggers, prognostic triggers, and potential complications of MFS. In addition, social and psychological utilities of diagnostic criteria include acceptance by patients, patient organizations, clinicians and scientists, practicability, costs, and the reduction of anxiety. Since the utility of a diagnosis or exclusion of MFS is context-dependent, prioritization of utilities is a strategic decision in the process of nosology development. Screening tests for MFS should be used to identify persons with MFS. To confirm the diagnosis of MFS, Ghent-1 and Ghent-2 perform similarly, but Ghent-2 is easier to use. To maximize the utility of the diagnostic criteria of MFS, a fair and transparent process of nosology development is essential

The Method of Forecasting of the Indicators for Drug Reimbursement to Patients with Cardiovascular Diseases in Ukraine

The aim of the study is to develop a method for forecasting the indicators for drug reimbursement to patients with cardiovascular diseases (CVD) in Ukraine within the framework of the government program “Available medicines”.Materials and methods: materials of the State Statistics Service of Ukraine and medical records of patients with CVD, who were prescribed with medicines according to the government program, were used in the study.Results: according to the method proposed for forecasting the volume of drug reimbursement to patients with CVD under the government program it has been found that Enalapril has the highest indicator – 10916.4 USD thousand in 2019 and 10736.8 USD thousand in 2020. Clopidogrel takes the second position – 12108.13 USD thousand and 11908.24 USD thousand, while Amlodipine occupies the third position – 9105.60 USD thousand and 8955.28 USD thousand.Among the medicines not included in the government program, but prescribed rather frequently the largest forecasting amount required for reimbursement (in case of inclusion in the program) is 18910.55 USD thousand in 2019 and 18598.36 USD thousand in 2020 for Magnicor, and the least amount is 444.55 USD thousand and 437.22 USD thousand for Acetylsalicylic acid, respectively.Conclusions. The government program to provide patients with effective and affordable medicines has a significant impact on reforming the healthcare system of Ukraine. The study conducted can be used to expand the government program in the process of formation and distribution of budget funds

Influence of environmental factors on the population health: regional approach for the medical-ecological analysis (for example, the Sumy region of Ukraine)

Сьогодні ще недостатньо розроблені методи асоціативного аналізу медичних, екологічних і демографічних параметрів, які дозволили б визначити характер і ступінь впливу факторів навколишнього середовища на здоров'я населення. Саме цим питанням і присвячена дана стаття. Встановлено, що інтегрованому вигляді, якість питної води є найбільш важливим фактором, який тісно корелює з поширеністю захворювань серед населення Сумської області. Вплив екологічного стану повітря, зокрема його гамма-фону, рівні хімічного і радіоактивного забруднення ґрунтів та рослинницької продукції також важливий, хоча і менш помітний.Сьогодні ще недостатньо розроблені методи асоціативного аналізу медичних, екологічних і демографічних параметрів, які дозволили б визначити характер і ступінь впливу факторів навколишнього середовища на здоров'я населення. Саме цим питанням і присвячена дана стаття. Встановлено, що інтегрованому вигляді, якість питної води є найбільш важливим фактором, який тісно корелює з поширеністю захворювань серед населення Сумської області. Вплив екологічного стану повітря, зокрема його гамма-фону, рівні хімічного і радіоактивного забруднення ґрунтів та рослинницької продукції також важливий, хоча і менш помітний.Today is still insufficiently developed the methods of associative analysis of the medical, ecological and demographic parameters that would make it possible to determine the nature and extent of the influence of environmental factors on the population health. In the integrated form, the quality of drinking water is the most important factor, which closely correlated with the prevalence of diseases among the population of Sumy region. The influence of the ecological state of the air, including the gamma-background level, chemical and radioactive contamination of soils and crop production are also important, although less markedly

Association between atopic and non-atopic diseases at children.

Ассоциация между атопическими и неатопическими аллергическими болезнями у детей. Абатуров А.Е., Дитятковский В.А., Науменко Н.В., Кулиева А., Бовсуновская К., Филатова И.А. В статье приведены данные анализа ассоциации между болезнями, составляющими атопический марш (АМ) у детей – атопическим дерматитом (АД), сезонным аллергическим риноконьюнктивитом (САРК) и круглогодичным аллергическим ринитом (КАР), бронхиальной астмой (БА) – с неатопическими аллергическими болезнями – острой и рецидивирующей крапивницей (ОК/РК), отёком Квинке (ОКв), а также болезнями пищеварительной системы (ПС) – функциональными расстройствами билиарной системы (ФРБС) и реактивным панкреатитом (РП). Определены ассоциации между АД, АМ и пищевой аллергией (ПА) у детей, что зафиксировано в виде прямой корреляционной связи. Определена прямая ассоциация между хроническими инфекционными заболеваниями верхних дыхательных путей и САРК, КАР и БА. Подтверждено отсутствие связи между атопическими и неатопическими аллергическими болезнями. Выявлены ассоциации между ФРБС, РП и неатопическими аллергическими болезнями у детей – ОК/РК, ОКв

Anthropology, Brokerage and Collaboration in the development of a Tongan Public Psychiatry: Local Lessons for Global Mental Health

The Global Mental Health (GMH) movement has revitalised questions of the translatability of psychiatric concepts and the challenges of community engagement in countries where knowledge of the biomedical basis for psychiatric diagnosis is limited or challenged by local cultural codes. In Tonga, the local psychiatrist Dr Puloka has successfully established a publicly accessible psychiatry that has raised admission rates for serious mental illness and addressed some of the stigma attached to diagnosis. On the basis of historical analysis and ethnographic fieldwork with healers, doctors and patients since 1998, this article offers an ethnographic contextualization of the development and reception of three key interventions during the 1990s inspired by traditional healing and reliant on the translation of psychiatric terms and diagnosis. Dr Puloka’s use of medical anthropological and transcultural psychiatry research informed a community engaged brokerage between the implications of psychiatric nosologies and local needs. As such it reveals deficiencies in current polarised positions on the GMH project and offers suggestions to address current challenges of the Global Mental Health movement

Psychiatric genetics and the structure of psychopathology

For over a century, psychiatric disorders have been defined by expert opinion and clinical observation. The modern DSM has relied on a consensus of experts to define categorical syndromes based on clusters of symptoms and signs, and, to some extent, external validators, such as longitudinal course and response to treatment. In the absence of an established etiology, psychiatry has struggled to validate these descriptive syndromes, and to define the boundaries between disorders and between normal and pathologic variation. Recent advances in genomic research, coupled with large-scale collaborative efforts like the Psychiatric Genomics Consortium, have identified hundreds of common and rare genetic variations that contribute to a range of neuropsychiatric disorders. At the same time, they have begun to address deeper questions about the structure and classification of mental disorders: To what extent do genetic findings support or challenge our clinical nosology? Are there genetic boundaries between psychiatric and neurologic illness? Do the data support a boundary between disorder and normal variation? Is it possible to envision a nosology based on genetically informed disease mechanisms? This review provides an overview of conceptual issues and genetic findings that bear on the relationships among and boundaries between psychiatric disorders and other conditions. We highlight implications for the evolving classification of psychopathology and the challenges for clinical translation

A Brief Analysis Of The Rehabilitation Systems Of Children With Spastic Forms Of Motor Disorders

The article briefly analyzes the main studies in the field of overcoming spasticity within the confines of medical and partly pedagogical approaches. It was singled out the range of the main aspects that can be used as a basis for the correction of motor disorders spasmodic forms in children of early and preschool age by means of adaptive physical education from the position of pedagogy, medicine, physiology and neurology in their constituent components. The paper studies the methods of overcoming spasticity suggested by specialists of various profiles containing promising key ideas for further research. Efforts have been made to combine possibilities of medical methods of spastic motor disorders forms rehabilitation with pedagogical capabilities of adaptive physical education. Such an approach can guarantee the complexity of various forms of spastic motor disorders, which can positively affect the construction of an individualized correctional strategy and tactics in further rehabilitation work. Analyzing the literature sources, we did not find a single universal method for the complete or at least prevailing overcoming of spasticity in children and adults

Association between the five factor personality dimensions and psychopathology symptoms

Treball Final de Grau en Psicologia. Codi: PS1048. Curs: 2018/2019.The 53-item Brief Symptom Inventory (BSI-53), a shorter version of the revised version of the Symptom Checklist-90 (SCL-90-R), is a widely used questionnaire that measures the internalizing symptoms of depression, phobic anxiety and obsessioncompulsion, as well as the externalizing symptom of hostility/aggression, the idea thought disorder of paranoid ideation and also somatization, in addition to the Global Scale Severity Index (GSI). The aim of the present study was to examine the relationship between the five-factor model (FFM) personality dimensions and the 46- item Spanish version of the BSI (BSI-46) scales. A sample of 76 participants answered the Spanish version of the Big Five Personality Trait Questionnaire (BFPTSQ) and the Spanish BSI-46. The measures were administered online using the application Qualtrics. We hypothesized that (a) emotional stability would be mainly related to internalizing disorders, paranoid ideation, somatization and, to a lesser extent, hostility/aggression; (b) (low) agreeableness (antagonism) would be related to hostility/aggression; (c) introversion would be related to depression and obsessivecompulsive symptoms; (d) openness would be associated with the symptoms of paranoid ideation; and (e) the GSI would be related to emotional stability, antagonism, (low) conscientiousness and introversion. As predicted, emotional stability (low neuroticism) was related to all scales of psychological disorders. Antagonism was related to hostility/aggression. Introversion was related to symptoms of depression but, contrary to what we had hypothesized, it was not associated with obsessivecompulsive symptoms. Although it was predicted that openness would be associated with paranoid ideation symptoms, the results did not confirm this hypothesis. Finally, the GSI only showed association with emotional stability, although we expected it to be related to antagonism, (low) conscientiousness and introversion. Taking into account the results, we may conclude that the personality dimensions of the FFM are relevant in relation to psychopathological symptoms.El Inventario Breve de Síntomas de 53 ítems (BSI-53), una versión más corta de la versión revisada de la Symptom Checklist-90 (SCL-90-R), es un cuestionario ampliamente utilizado que mide los síntomas internalizantes de depresión, ansiedad fóbica y obsesión-compulsión, así como el síntoma externalizante de hostilidad/agresión, el trastorno del pensamiento ideación paranoide y también la somatización, además del índice de gravedad global (GSI). El objetivo del presente estudio fue examinar la relación entre las dimensiones de personalidad del modelo de cinco factores y la versión española de 46 ítems de las escalas BSI (BSI-46). Una muestra de 76 participantes contestó la versión española del cuestionario de los cinco factores de personalidad (BFPTSQ) y el BSI-46 en español. Las escalas fueron administradas online utilizando la aplicación Qualtrics. Nuestras hipótesis eran que (a) la estabilidad emocional estaría relacionada principalmente con los trastornos de internalización, la ideación paranoide, la somatización y, en menor medida, la hostilidad/agresión; (b) la (baja) amabilidad (antagonismo) estaría relacionada con la hostilidad/agresividad; (c) la introversión estaría relacionada con la depresión y los síntomas obsesivos-compulsivos; (d) la apertura estaría asociada con los síntomas de la ideación paranoide; y (e) el GSI estaría relacionado con la estabilidad emocional, antagonismo, la (baja) responsabilidad y la introversión. Como se predijo, la estabilidad emocional (bajo neuroticismo) se relacionó con todas las escalas de trastornos psicológicos. El antagonismo estaba relacionado con la hostilidad/agresión. La introversión estaba relacionada con los síntomas de la depresión pero, contrariamente a lo que habíamos hipotetizado, no estaba asociada con los síntomas obsesivo-compulsivos. Aunque se predijo que la apertura estaría asociada con los síntomas de la ideación paranoide, los resultados no confirmaron esta hipótesis. Finalmente, el GSI solo mostró asociación con la estabilidad emocional, aunque esperábamos que estuviera relacionado con el antagonismo, (baja) responsabilidad e introversión. Teniendo en cuenta los resultados, podemos concluir que las dimensiones de personalidad del Modelo de Cinco Factores son relevantes en relación con los síntomas psicopatológicos

Influence of environmental factors on the population health: regional approach for the medical-ecological analysis (for example, the Sumy region of Ukraine)

Сьогодні ще недостатньо розроблені методи асоціативного аналізу медичних, екологічних і демографічних параметрів, які дозволили б визначити характер і ступінь впливу факторів навколишнього середовища на здоров'я населення. Саме цим питанням і присвячена дана стаття. Встановлено, що інтегрованому вигляді, якість питної води є найбільш важливим фактором, який тісно корелює з поширеністю захворювань серед населення Сумської області. Вплив екологічного стану повітря, зокрема його гамма-фону, рівні хімічного і радіоактивного забруднення ґрунтів та рослинницької продукції також важливий, хоча і менш помітний.Сьогодні ще недостатньо розроблені методи асоціативного аналізу медичних, екологічних і демографічних параметрів, які дозволили б визначити характер і ступінь впливу факторів навколишнього середовища на здоров'я населення. Саме цим питанням і присвячена дана стаття. Встановлено, що інтегрованому вигляді, якість питної води є найбільш важливим фактором, який тісно корелює з поширеністю захворювань серед населення Сумської області. Вплив екологічного стану повітря, зокрема його гамма-фону, рівні хімічного і радіоактивного забруднення ґрунтів та рослинницької продукції також важливий, хоча і менш помітний.Today is still insufficiently developed the methods of associative analysis of the medical, ecological and demographic parameters that would make it possible to determine the nature and extent of the influence of environmental factors on the population health. In the integrated form, the quality of drinking water is the most important factor, which closely correlated with the prevalence of diseases among the population of Sumy region. The influence of the ecological state of the air, including the gamma-background level, chemical and radioactive contamination of soils and crop production are also important, although less markedly

Antoni Kępiński’s Philosophy of Medicine – an alternative reading

Antoni Kępiński remains an often read and quoted author even 40 years after his premature death. Usually he is read in the context of his times and his connections with contemporary philosophy. This paper aims to show other aspects of his reflections on psychiatry. His views on the position of psychiatry within medicine, its methods, psychophysical problems, and other issues are compared with current knowledge and current thought paradigms. The goal is to show that while Kępiński was obviously functioning within a different scientific and philosophical paradigm many of his ideas and reflections can still be found within current debates. The important conclusion is to not hold on to the views that Kępiński held himself because he did not know as much as we do, but to see the importance of the debates that he foresaw even then and possibly learn something from his extensive clinical experience