Search Results (10)

Congenital heart diseases (CHDs) are usually defined as structural anomalies of the heart and great arteries, present since birth, that are due to embryological maldevelopment, with overt or potential dysfunction. Nowadays, most of the patients with CHD in adulthood (age > 18 years) had been operated on with success in infancy or childhood and undergo periodical screening. Pathology and nosology of CHDs are herein treated with special attention to adulthood according to the involved cardiac structures (aorta, valves, coronary arteries, myocardium, great arteries, conduction system). Moreover, the purpose is to postulate, in the era of molecular medicine, that genetically determined defects are also congenital cardiac disorders, with or without structural abnormality, and should be defined CHDs as well since their molecular background is material and present since conception. Full article

Background: The concept of Alzheimer disease (AD)—since its histological discovery by Alzheimer to the present day—has undergone substantial modifications. Methods: We conducted a classical narrative review of this field with a bibliography selection (giving preference to Medline best match). Results: The following subjects are reviewed and discussed: Alzheimer’s discovery, Kraepelin’s creation of a new disease that was a rare condition until the 1970′s, the growing interest and investment in AD as a major killer in a society with a large elderly population in the second half of the 20th century, the consolidation of the AD clinicopathological model, and the modern AD nosology based on the dominant amyloid hypothesis among many others. In the 21st century, the development of AD biomarkers has supported a novel biological definition of AD, although the proposed therapies have failed to cure this disease. The incidence of dementia/AD has shown a decrease in affluent countries (possibly due to control of risk factors), and mixed dementia has been established as the most frequent etiology in the oldest old. Conclusions: The current concept of AD lacks unanimity. Many hypotheses attempt to explain its complex physiopathology entwined with aging, and the dominant amyloid cascade has yielded poor therapeutic results. The reduction in the incidence of dementia/AD appears promising but it should be confirmed in the future. A reevaluation of the AD concept is also necessary. Full article

Background: The nosological position and clinical relevance of the concept of diabetes distress (DD) are uncertain. The aim of this study was to use latent class analysis (LCA) to categorise classes of people with type 2 diabetes and to compare their characteristics. Methods: Data from 662 participants in the longitudinal observational Fremantle Diabetes Study Phase II were analysed. LCA identified latent subgroups based on individual responses to the Patient Health Questionnaire-9, the Generalised Anxiety Disorder Scale, and the 5-item Problem Areas in Diabetes Scale. Results: Four classes were identified: Class 1 (65.7%, no symptoms), Class 2 (14.0%, DD), Class 3 (12.6%, subsyndromal depression (SSD)), and Class 4 (7.6%, major depression (MD)). Multinomial regression analysis with Class 1 as reference showed significant associations between the DD class and Southern European and Asian ethnic background, HbA_1c, and BMI. The SSD class was significantly associated with HbA_1c, cerebrovascular disease, and coronary heart disease (CHD). The MD class had significant associations with age (inversely), Southern European ethnic background, HbA_1c, BMI, and CHD. In conclusion, LCA identified a pure DD group comprising 14.0% of participants. The only variable uniquely associated with the DD class was Asian ethnic background. Conclusion: Although identification of DD may have some utility in assessing the psychological wellbeing of individuals with type 2 diabetes, it adds little to the assessment of depressive disorder and its significant clinical sequalae. Full article

Uterine leiomyomas are the most common benign tumors in women of childbearing age. They may lead to problems of conception or complications during the gestational period. The methods of treatment include surgical (myomectomy and hysterectomy, embolization of arteries) and therapeutic treatment (ulipristal acetate, leuprolide acetate, cetrorelix, goserelin, mifepristone). Both approaches are efficient but incompatible with pregnancy planning. Therefore, there is a call for medical practice to develop therapeutical means of preventing leiomyoma onset in patients planning on becoming pregnant. Based on the analysis of GWAS data on the search for mononucleotide polymorphisms associated with the risk of leiomyoma, in meta-transcriptomic and meta-methylomic studies, target proteins have been proposed. Prospective therapeutic treatments of leiomyoma may be based on chemical compounds, humanized recombinant antibodies, vaccines based on markers of the uterine leiomyoma cells that are absent in the adult organism, or DNA and RNA preparations. Three different nosological forms of the disease associated with driver mutations in the MED12, HMGA2, and FH genes should be considered when developing or prescribing drugs. For example, synthetic inhibitors and vaccines based on matrix metalloproteinases MMP11 and MMP16 are expected to be effective only for the prevention of the occurrence of MED12-dependent nodules. Full article

Bigorexia nervosa (BN) is a controversial nosological entity, considered either a feeding/eating disorder (FED) or a subtype of body dysmorphic disorder (BDD). This rapid review aims to explore the characteristic features of BN and identify evidence-based therapeutic interventions for this condition. Three electronic databases (PubMed, Cochrane, and Google Scholar) were searched for relevant information about BN, and 26 reports were reviewed in detail. The results showed that bodybuilders, weightlifters, and other populations involved in athletic activities are the most vulnerable to the onset of this disorder. Patients with BN should also be screened for physical and psychiatric comorbidities and complications, such as anabolic steroid use disorder, physical exercise addiction, and depressive or anxiety disorders. The main differential diagnoses for BN are schizophrenia spectrum disorders, depressive disorders, anxiety disorders, bodily distress disorder, and obsessive–compulsive disorders. Using validated screening instruments is considered very important from a clinical perspective, with the aim of providing early identification of this disorder. Therapeutic interventions for patients with BN are still in the early phases of development, and no specific pharmacological treatment has yet been identified. Since it is similar to the obsessive–compulsive spectrum, cognitive behavioral therapy has been suggested as a useful intervention; however, it has not yet been validated in large-scale clinical trials. In conclusion, based on the reviewed data, clarifying the concept of BN is of practical importance for constructing adequate prevention strategies and validating proper therapeutic interventions. Full article

Conduct problems and anxiety symptoms commonly co-occur among youths with oppositional defiant disorder (ODD); however, how these symptoms influence functioning and treatment outcomes remains unclear. This study examined subtypes based on these co-occurring symptoms in a clinical sample of 134 youths (M_age = 9.67, 36.6% female, 83.6% white) with ODD and the predictive power of these subgroups for youth functioning and psychosocial treatment outcomes. The latent profile analysis (LPA) was used to identify subgroups based on parent- and self-reported conduct problems and anxiety symptoms. Differences among the subgroups in clinician-, parent-, and/or self-reported accounts of symptom severity, school performance, underlying processing known to be impaired across ODD, conduct and anxiety disorders, self-concept, and psychosocial treatment outcomes were examined. Four distinct profiles were identified: (1) Low Anxiety/Moderate Conduct Problems (n = 42); (2) High Anxiety/Moderate Conduct Problems (n = 33); (3) Moderate Anxiety/Moderate Conduct Problems (n = 40); and (4) Moderate Anxiety/High Conduct Problems (n = 19). The Moderate Anxiety/High Conduct Problems group exhibited more severe behavioral problems, greater difficulties with negative emotionality, emotional self-control, and executive functioning; they also demonstrated worse long-term treatment outcomes than the other subgroups. These findings suggest more homogeneous subgroups within and across diagnostic categories may result in a deeper understanding of ODD and could inform nosological systems and intervention efforts. Full article

Articulating a satisfactory definition of a disease is surprisingly difficult. Despite the alarming individual, societal and economic burden of chronic obstructive pulmonary disease (COPD), diagnosis is still largely based on a physiologically dominated disease conception, with spirometrically determined airflow limitation as a cardinal feature of the disease. The diagnostic inaccuracy and insensitivity of this physiological disease definition is reviewed considering scientific developments of imaging of the respiratory system in particular. Disease must be approached as a fluid concept in response to new scientific and medical discoveries, but labelling as well as mislabelling someone as diseased, will have enormous individual, social and financial implications. Nosology of COPD urgently needs to dynamically integrate more sensitive diagnostic procedures to detect the breadth of abnormalities early in the disease process. Integration of broader information for the identification of abnormalities in the respiratory system is a cornerstone for research models of underlying pathomechanisms to create a breakthrough in research. Full article

Chronic pain is an unpleasant sensory and emotional experience that persists or recurs more than three months and may extend beyond the expected time of healing. Recently, nociplastic pain has been introduced as a descriptor of the mechanism of pain, which is due to the disturbance of neural processing without actual or potential tissue damage, appearing to replace a concept of psychogenic pain. An interdisciplinary task force of the International Association for the Study of Pain (IASP) compiled a systematic classification of clinical conditions associated with chronic pain, which was published in 2018 and will officially come into effect in 2022 in the 11th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-11) by the World Health Organization. ICD-11 offers the option for recording the presence of psychological or social factors in chronic pain; however, cognitive, emotional, and social dimensions in the pathogenesis of chronic pain are missing. Earlier pain disorder was defined as a condition with chronic pain associated with psychological factors, but it was replaced with somatic symptom disorder with predominant pain in the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) in 2013. Recently clinical nosology is trending toward highlighting neurological pathology of chronic pain, discounting psychological or social factors in the pathogenesis of pain. This review article discusses components of the pain pathway, the component-based mechanisms of pain, central and peripheral sensitization, roles of chronic inflammation, and the involvement of tryptophan-kynurenine pathway metabolites, exploring the participation of psychosocial and behavioral factors in central sensitization of diseases progressing into the development of chronic pain, comorbid diseases that commonly present a symptom of chronic pain, and psychiatric disorders that manifest chronic pain without obvious actual or potential tissue damage. Full article

The coronavirus disease of 2019 (COVID-19) pandemic rapidly spread around the world, resulting in massive medical morbidity and mortality and substantial mental health consequences. Post-traumatic stress disorder (PTSD) is an important psychiatric disorder associated with disasters, and many published scientific articles have reported post-traumatic stress syndromes in populations studied for COVID-19 mental health outcomes. American diagnostic criteria for PTSD have evolved across editions of the manual, and the current definition excludes naturally occurring medical illness (such as viral illness) as a qualifying trauma, ruling out this viral pandemic as the basis for a diagnosis of PTSD. This article provides an in-depth nosological consideration of the diagnosis of PTSD and critically examines three essential elements (trauma, exposure, and symptomatic response) of this diagnosis, specifically applying these concepts to the mental health outcomes of the COVID-19 pandemic. The current criteria for PTSD are unsatisfying for guiding the response to mental health consequences associated with this pandemic, and suggestions are made for addressing the conceptual diagnostic problems and designing research to resolve diagnostic uncertainties empirically. Options might be to revise the diagnostic criteria or consider categorization of COVID-19-related psychiatric syndromes as non-traumatic stressor-related syndromes or other psychiatric disorders. Full article

This synopsis paper aims to identify if a common pattern of learning and social difficulties can be conceptualized across recent longitudinal studies investigating the influence of mild-to-moderate gestational iodine deficiency (GID) on offspring’s optimal cognitive and psycho-social development. The main studies investigated are: The Southampton Women’s Study (SWS)—United Kingdom; the Avon Longitudinal Study of Parents and Children (ALSPAC)—United Kingdom; the Gestational Iodine Cohort Longitudinal Study—Tasmania, Australia, and the Danish National Birth Cohort Case-Control Study—Denmark. In contrast to severe GID where there is a global negative impact on neurodevelopment, mild-to-moderate intrauterine iodine deficiency has subtler, but nonetheless important, permanent cognitive and psycho-social consequences on the offspring. This paper links the results from each study and maintains that mild-to-moderate GID is associated with a disorder that is characterized by speed of neural transmitting difficulties that are typically associated with working memory capacity difficulties and attention and response inhibition. The authors maintain that this disorder is better identified as Gestational Iodine Deficiency Processing Disorder (GIDPD), rather than, what to date has often been identified as ‘suboptimal development’. The Autistic Spectrum Disorder (ASD), Attention Deficit, Hyperactivity Disorder (ADHD), language and literacy disorders (learning disabilities and dyslexia) are the main manifestations associated with GIDPD. GIDPD is identified on IQ measures, but selectively and mainly on verbal reasoning IQ subtests, with individuals with GIDPD still operating within the ‘normal’ full-scale IQ range. Greater consideration needs to be given by public health professionals, policy makers and educators about the important and preventable consequences of GID. Specifically, more emphasis should be placed on adequate iodine intake in women prior to pregnancy, as well as during pregnancy and when lactating. Secondly, researchers and others need to further extend, refine and clarify whether GIDPD, as a nosological (medical classification) entity, is a valid disorder and concept for consideration. Full article