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Oral ulcers affect oral and systemic health and have high prevalence in the population. There are significant individual differences in the etiology and extent of the disease among patients. In the treatment of oral ulcers, nanofiber films can control the drug-release rate and enable long-term local administration. Compared to other drug-delivery methods, nanofiber films avoid the disadvantages of frequent administration and certain side effects. Electrospinning is a simple and effective method for preparing nanofiber films. Currently, electrospinning technology has made significant breakthroughs in energy-saving and large-scale production. This paper summarizes the polymers that enable oral mucosal adhesion and the active pharmaceutical ingredients used for oral ulcers. Moreover, the therapeutic effects of currently available electrospun nanofiber films on oral ulcers in animal experiments and clinical trials are investigated. In addition, solvent casting and cross-linking methods can be used in conjunction with electrospinning techniques. Based on the literature, more administration systems with different polymers and loading components can be inspired. These administration systems are expected to have synergistic effects and achieve better therapeutic effects. This not only provides new possibilities for drug-loaded nanofibers but also brings new hope for the treatment of oral ulcers. [ABSTRACT FROM AUTHOR]

In this work, we explore data‐driven techniques for the fast and early diagnosis concerning the etiological origin of meningitis, more specifically with regard to differentiating between viral and bacterial meningitis. We study how machine learning can be used to predict meningitis aetiology once a patient has been diagnosed with this disease. We have a dataset of 26,228 patients described by 19 attributes, mainly about the patient's observable symptoms and the early results of the cerebrospinal fluid analysis. Using this dataset, we have explored several techniques of dataset sampling, feature selection and classification models based both on ensemble methods and on simple techniques (mainly, decision trees). Experiments with 27 classification models (19 of them involving ensemble methods) have been conducted for this paper. Our main finding is that the combination of ensemble methods with decision trees leads to the best meningitis aetiology classifiers. The best performance indicator values (precision, recall and f‐measure of 89% and an AUC value of 95%) have been achieved by the synergy between bagging and NBTrees. Nonetheless, our results also suggest that the combination of ensemble methods with certain decision tree clearly improves the performance of diagnosis in comparison with those obtained with only the corresponding decision tree. [ABSTRACT FROM AUTHOR]

The present paper investigated the association of Parkinson's disease etiology with phosphate toxicity, a pathophysiological condition in which dysregulated phosphate metabolism causes excessive inorganic phosphate sequestration in body tissue that damages organ systems. Excessive phosphate is proposed to reduce Complex I function of the mitochondrial electron transport chain in Parkinson's disease and is linked to opening of the mitochondrial permeability transition pore, resulting in increased reactive oxygen species, inflammation, DNA damage, mitochondrial membrane depolarization, and ATP depletion causing cell death. Parkinson's disease is associated with α-synuclein and Lewy body dementia, a secondary tauopathy related to hyperphosphorylation of tau protein, and tauopathy is among several pathophysiological pathways shared between Parkinson's disease and diabetes. Excessive phosphate is also associated with ectopic calcification, bone mineral disorders, and low levels of serum vitamin D in patients with Parkinson's disease. Sarcopenia and cancer in Parkinson's disease patients are also associated with phosphate toxicity. Additionally, Parkinson's disease benefits are related to low dietary phosphate intake. More studies are needed to investigate the potential mediating role of phosphate toxicity in the etiology of Parkinson's disease. [ABSTRACT FROM AUTHOR]

Cancer, a common malignant disease, is one of the predominant causes of diseases that lead to death. Additionally, cancer is often detected in advanced stages and cannot be radically cured. Consequently, there is an urgent need for reliable and easily detectable markers to identify and monitor cancer onset and progression as early as possible. Our aim was to systematically review the relevant roles of cathepsin K (CTSK) in various possible cancers in existing studies. CTSK, a well-known key enzyme in the bone resorption process and most studied for its roles in the effective degradation of the bone extracellular matrix, is expressed in various organs. Nowadays, CTSK has been involved in various cancers such as prostate cancer, breast cancer, bone cancer, renal carcinoma, lung cancer and other cancers. In addition, CTSK can promote tumor cells proliferation, invasion and migration, and its mechanism may be related to RANK/RANKL, TGF-β, mTOR and the Wnt/β-catenin signaling pathway. Clinically, some progress has been made with the use of cathepsin K inhibitors in the treatment of certain cancers. This paper reviewed our current understanding of the possible roles of CTSK in various cancers and discussed its potential as a biomarker and/or novel molecular target for various cancers. [ABSTRACT FROM AUTHOR]

Clefts that occur in children are a special topic. Avoiding risk factors, and also an early diagnosis of cleft possibility can result in minimizing or avoiding them. If on the other hand when clefts occur they require a long-term, multistage specialized treatment. Etiology of clefts seems to be related to many factors. Factors such as genetic, environmental, geographic and even race factors are important. Identification of risk factors can lead to prevention and prophylactic behaviors in order to minimize its occurrence. Exposure to environmental factors at home and work that lead to cleft predisposition should not be disregarded. It seems that before planning a family it would be wise to consult with doctors of different specializations, especially in high-risk families with cleft history in order to analyze previous lifestyle. Clefts are very common in hereditary facial malformations and are causing a lot of other irregularities in the head and neck region. In this paper after a brief papers review authors present socio-geographic, environmental and also work place related factors that are influencing pregnant women condition and should be taken under serious consideration. [ABSTRACT FROM AUTHOR]

Critical nodes in temporal networks play more significant role than other nodes on the structure and function of networks. The research on identifying critical nodes in temporal networks has attracted much attention since the real-world systems can be illustrated more accurately by temporal networks than static networks. Considering the topological information of networks, the algorithm MLI based on network embedding and machine learning are proposed in this paper. we convert the critical node identification problem in temporal networks into regression problem by the algorithm. The effectiveness of proposed methods is evaluated by SIR model and compared with well-known existing metrics such as temporal versions of betweenness, closeness, k-shell, degree deviation and dynamics-sensitive centralities in one synthetic and five real temporal networks. Experimental results show that the proposed method outperform these well-known methods in identifying critical nodes under spreading dynamic. [ABSTRACT FROM AUTHOR]

Copyright of Developmental Medicine & Child Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The emergence of humans from their ape ancestors is intertwined with the appearance of the disease. Since then, diseases of varied kinds continue to pose the greatest challenge to human survival and sustenance. Thousands of years of association eventually led humans to develop different strategies to confront disease and health maintenance. As a result, every human group inhabiting varying social and environmental conditions has its medical logic and theories, which are constantly improved with new medical insight and the emergence of new diseases. This paper explores the various existing theories and interpretations of disease among the Tangkhul Nagas of Manipur. It brings out diverse disease theories that continue to shape the understanding of health and diseases among this group of people. [ABSTRACT FROM AUTHOR]

Sarcoidosis is a systemic inflammatory disease of unknown aetiology. Given its complex clinical presentation, the disorder frequently causes diagnostic challenges. In most cases, the primary manifestation is in the lungs and mediastinum. Breast involvement as the primary manifestation of sarcoidosis is rare, accounting for less than 1% of cases. The authors present the case of a 44-year-old woman whose disease first manifested as multiple non-specific BIRADS 4 lesions in both breasts, accompanied by axillary lymphadenopathy, detected by ultrasound examination. The lesions were not visible on mammography. The course of the disease was clinically silent, with intermittent remissions, until the complete resolution of focal breast lesions on ultrasound after two years of follow-up. The paper presents an algorithm for the management of multifocal breast pathology with associated lymphadenopathy, which led to the prompt verification of sarcoidosis. [ABSTRACT FROM AUTHOR]

Isolated abdominal aortic dissection constitutes a relatively small percentage of all aortic dissections. In this paper we present a case of a 59-year-old man who reported to the hospital because of the sudden appearance of intermittent claudication of his left lower limb. After establishing the diagnosis the patient was qualified for endovascular treatment due to dissection involving the final 1 cm of his abdominal aorta and extending to his left common iliac artery with significant true lumen compression. Stent was implanted into the left common iliac artery with almost complete occlusion of the false lumen and expansion of the true lumen of his iliac artery. During the 70-month follow-up we achieved a good result with evidence of stent patency and no signs of expansion of the false lumen. The paper discusses the epidemiology, aetiology, diagnosis and treatment of isolated abdominal dissections. [ABSTRACT FROM AUTHOR]

In this paper we present a case of an 8-year-old immunocompetent boy with acute myocarditis caused probably by concomitant human herpesvirus 6 (HHV-6) with human herpesvirus 7 (HHV-7) infection. The clinical manifestation included flu-like symptoms and fulminant heart failure, which required admission to an intensive care setting. Aggressive supportive heart failure management with administration of inotropes and antiviral and antibacterial treatment were applied. After implementation of therapy, the gradual improvement of heart function and patient's condition was observed and the patient did not require Extracorporeal Membrane Oxygenation (ECMO) support. Two months after the symptoms' onset, the patient was discharged home in a good general condition. [ABSTRACT FROM AUTHOR]

This review offers an overview of the relationship between diabetes, obstructive sleep apnea (OSA), obesity, and heart disease. It then addresses evidence that the traditional understanding of this relationship is incomplete or misleading. In the process, there is a brief discussion of the evolutionary rationale for the development and retention of OSA in light of blood sugar dysregulation, as an adaptive mechanism in response to environmental stressors, followed by a brief overview of the general concepts of epigenetics. Finally, this paper presents the results of a literature search on the epigenetic marks and changes in gene expression found in OSA and diabetes. (While some of these marks will also correlate with obesity and heart disease, that is beyond the scope of this project). We conclude with an exploration of alternative explanations for the etiology of these interlinking diseases. [ABSTRACT FROM AUTHOR]

In this review paper, we discuss the contribution of proteomic studies to the discovery of disease-specific biomarkers to monitor the disease and evaluate available treatment options for psoriasis. Psoriasis is one of the most prevalent skin disorders driven by a Th17-specific immune response. Although potential patients have a genetic predisposition to psoriasis, the etiology of the disease remains unknown. During the last two decades, proteomics became deeply integrated with psoriatic research. The data obtained in proteomic studies facilitated the discovery of novel mechanisms and the verification of many experimental hypotheses of the disease pathogenesis. The detailed data analysis revealed multiple differentially expressed proteins and significant changes in proteome associated with the disease and drug efficacy. In this respect, there is a need for proteomic studies to characterize the role of the disease-specific biomarkers in the pathogenesis of psoriasis, develop clinical applications to choose the most efficient treatment options and monitor the therapeutic response. [ABSTRACT FROM AUTHOR]

Bruxism is a movement disorder characterized by grinding and clenching of teeth. Awake bruxism is found more in females as compared to males while sleep bruxism shows no such gender prevalence. Etiology of bruxism can be divided into three groups psychosocial factors, peripheral factors and pathophysiological factors. Treatment modalities involve occlusal correction, behavioural changes and pharmacological approach. A literature search was performed using National Library of Medicine's (NLM) Medical Subject Headings (MeSH) Database, Pubmed and Google search engines. The search term 'Bruxism' yielded 2,358 papers out of which 230 were review papers. Most of the papers selected were recently published during the period of 1996-2010 and very few of them were published before 1996. [ABSTRACT FROM AUTHOR]

Brain abscess is a very rare condition but has a significant mortality rate. The three main routes of inoculation are trauma, contiguous focus, and the hematogenous route. The odontogenic focus is infrequent and is usually a diagnosis of exclusion. This paper presents a brain abscess case proven to be of dental origin, caused by Actinomyces meyeri and Fusobacterium nucleatum. This case highlights the risk underlying untreated dental disease and why oral infectious foci removal and good oral health are essential in primary care. [ABSTRACT FROM AUTHOR]

This paper provides a framework for understanding why, when and how to adapt mindfulness-based programs (MBPs) to specific populations and contexts, based on research that developed and adapted multiple MBPs. In doing so, we hope to support teachers, researchers and innovators who are considering adapting an MBP to ensure that changes made are necessary, acceptable, effective, cost-effective, and implementable. Specific questions for reflection are provided such as (1) Why is an adaptation needed? (2) Does the theoretical premise underpinning mainstream MBPs extend to the population you are considering? (3) Do the benefits of the proposed adaptation outweigh the time and costs involved to all in research and implementation? (4) Is there already an evidenced-based approach to address this issue in the population or context? Fundamental knowledge that is important for the adaptation team to have includes the following: (1) essential ingredients of MBPs, (2) etiology of the target health outcome, (3) existing interventions that work for the health outcome, population, and context, (4) delivery systems and settings, and (5) culture, values, and communication patterns of the target population. A series of steps to follow for adaptations is provided, as are case examples. Adapting MBPs happens not only by researchers, but also by MBP teachers and developers, who endeavor to best serve the populations and contexts they work within. We hope that these recommendations for best practice provide a practical framework for skilfully understanding why, when, and how to adapt MBPs; and that this careful approach to adaptation maximizes MBP safety and efficacy. [ABSTRACT FROM AUTHOR]

Neurodegenerative disorders are those which affect cognitive functions. Misfolding of proteins especially apolipoprotein E is a key genetic factor involved in several cognitive impairments. Increasing evidence also described the toxic effects of metals, generated by both nature and humans, on the development of neurological disorders. Understanding of interaction between toxic metals and apolipoprotein E protein in cognitive decline diosrders would provide alternative treatment options. Google Scholar and PubMed database were used to search the articles using different search terms like ‘toxic metals’, ‘cognitive decline’, ‘Apolipoprotein E’, “neurodegenerative disorders” and “metals neurotoxicity”. Only those papers were included that discussed the metal exposure-apolipoprotein association in the development of cognitive decline disorders. Heavy metals are particularly recognized as a major source of neurotoxicity. These toxic metals can interact with genetic factors and play important role in disease etiology. Understanding the underlying mechanism of this interaction could provide tremendous benefits to treat cognitive decline disorders. In this study, the role of the apolipoprotein E4 gene in the development of cognitive disease conditions and their phenotypes has been discussed thoroughly which leads to the accumulation of amyloid-beta fibrils. This exploratory study revealed novel hypothetical findings which might contribute to the understanding of the neurotoxic effects of chronic toxic metals exposure and possibly improve our knowledge on the molecular mechanisms linking metal exposure to cognitive decline disorder risk. [ABSTRACT FROM AUTHOR]

Concha bullosa is the hypertrophy of the superior, middle, or inferior nasal conchae, most commonly referring to the pneumatisation of the middle conchae. It is considered to be the most common anatomical variant of the osteomeatal complex, rather than a pathological development. Though it is common, its aetiology is poorly understood. It is unclear whether sex or ethnicity impacts on the prevalence of concha bullosa, though some research suggests a correlation. Some researchers have argued that concha bullosa predisposes individuals to sinusitis, but the link is not consistent. In this paper, the authors present two new skeletal cases of bilateral concha bullosa identified in female individuals taken from the Cyprus Reference Research Collection (CRRC). This work aims to highlight the limitations associated with the palaeopathological diagnosis of inflammation and the interpretation of skeletal lesions that may be related to sinusitis or infection of the osteomeatal complex in archaeological bone, in relation to the presence of concha bullosa. [ABSTRACT FROM AUTHOR]

Background: Infantile colic (IC) is excessive crying in otherwise healthy children. Despite vast research efforts, its etiology remains unknown. Purpose: Most treatments for IC carry various side effects. The collection of evidence may inform researchers of new strategies for the management and treatment of IC as well as new clues for understanding its pathogenesis. This review and metaanalysis aimed to evaluate the efficacy and possible mechanisms of probiotics for mananaging IC. Methods: Ten papers met the study inclusion and exclusion criteria, and the metaanalysis was conducted using Review Manager (RevMan) software and a randomeffects model. Results: This metaanalysis revealed that probiotics are effective for treating infantile colic, while the review showed that this efficacy may be due to their antiinflammatory effects. Conclusion: Probiotics may be an important treatment option for managing infantile colic due to their antiinflammatory properties. [ABSTRACT FROM AUTHOR]

Thrombocytopenia is one of the two most common hematological problems in pregnant women. It is defined as the platelet (PLT) count below 150 × 103/µL. Gestational incidental thrombocytopenia (GIT) represents about 75% of thrombocytopenia cases in pregnancy and it is believed that GIT is secondary to accelerated platelet destruction and increased plasma volume associated with pregnancy. The pregnancy complications such as preeclampsia and its most severe form -- HELLP syndrome account for 20% cases of thrombocytopenia in pregnancy and primary immune thrombocytopenic purpura (ITP) -- for 3-4 percent. During ITP, maternal antiplatelet antibodies can pass through the placenta and bind to fetal thrombocytes leading to the development of fetal thrombocytopenia which occurs in about 50% cases. Even if the maternal platelet count stabilizes, the estimated fetal and neonatal risk of thrombocytopenia in ITP is approximately 30%. Other types of thrombocytopenia in pregnant women constitute 1-2% of cases (disseminated intravascular coagulation, autoimmunological diseases, congenital, infection and drug-related, concomitant with blood neoplastic diseases). Although thrombocytopenia in pregnant women usually has a mild course, in case of a significant decrease in PLT count may lead to dangerous bleeding, especially when the platelet count falls below 20 × 103/µL. Since it is important to identify the cause of thrombocytopenia and to determine the risk for both the mother and the child, this paper presents the influence of maternal thrombocytopenia on the pregnancy course as well as its etiology and diagnostics. The treatment principles are discussed. [ABSTRACT FROM AUTHOR]

Bacillary dysentery is an infectious disease caused by Shigella dysenteriae, which has a seasonal distribution. External environmental factors, including climate, play a significant role in its transmission. This paper identifies climate-related risk factors and their role in bacillary dysentery transmission. Harbin, in northeast China, with a temperate climate, and Quzhou, in southern China, with a subtropical climate, are chosen as the study locations. The least absolute shrinkage and selectionator operator is applied to select relevant climate factors involved in the transmission of bacillary dysentery. Based on the selected relevant climate factors and incidence rates, an AutoRegressive Integrated Moving Average (ARIMA) model is established successfully as a time series prediction model. The numerical results demonstrate that the mean water vapour pressure over the previous month results in a high relative risk for bacillary dysentery transmission in both cities, and the ARIMA model can successfully perform such a prediction. These results provide better explanations for the relationship between climate factors and bacillary dysentery transmission than those put forth in other studies that use only correlation coefficients or fitting models. The findings in this paper demonstrate that the mean water vapour pressure over the previous month is an important predictor for the transmission of bacillary dysentery. [ABSTRACT FROM AUTHOR]

Copyright of Salud Uninorte is the property of Fundacion Universidad del Norte and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction and objectives: Little is known about the etiology of acute liver failure (ALF) in Latin America. The objective of this paper is to investigate the main etiologies of ALF in Brazil, including Drug Induced Liver Injury (DILI) using stringent causality criteria. Patients or material and methods: All the cases of individuals who underwent liver transplantation (LT) in 12 centers in Brazil for ALF were reviewed. When DILI was stated as the cause of ALF, causality criteria were applied on site by the main investigator in order to rule out other etiologies. Results: 325 individuals had ALF mainly for unknown reasons (34%), DILI (27%) and AIH (18%). Reassessment of the 89 cases of DILI, using stringent causality criteria, revealed that in only 42 subjects could DILI be confirmed as the cause of ALF. Acetaminophen (APAP) toxicity (n = 3) or DILI due to herbal and dietary supplements (HDS) (n = 2) were not commonly observed. Conclusions: Undetermined etiology and DILI are the main causes of ALF in Brazil. However, APAP toxicity and DILI due to HDS are mostly uncommon. [ABSTRACT FROM AUTHOR]

Objectives: Analyze defects in the state of maturation of the enamel result in an adequate volume of enamel, but in an insufficient mineralization, which can affect both deciduous teeth and permanent teeth. Among the most common defects, we recognize Deciduous Molar Hypominerlization (DMH), Hypomineralized Second Primary Molar (HSPM), and Molar Incisor Hypomineralization (MIH). These, in fact, affect the first deciduous molars, the second deciduous molars and molars, and permanent incisors, respectively, but their etiology remains unclear. The objective of the paper is to review studies that focus on investigating possible associations between genetic factors or prenatal, perinatal, and postnatal causes and these enamel defects. Materials and methods: A comprehensive and bibliometric search for publications until January 2021 was conducted. The research question was formulated following the Population, Intervention, Comparison, Outcome strategy. Case-control, cross-sectional, cohort studies, and clinical trials investigating genetic and environmental etiological factors of enamel defects were included. Results: Twenty-five articles are included. For genetic factors, there is a statistical relevance for SNPs expressed in the secretion or maturation stage of amelogenesis (16% of studies and 80% of studies that investigated these factors). For prenatal, perinatal, and postnatal causes, there is a statistical relevance for postnatal factors, such as the breastfeeding period (2%), asthma (16%), high fever episodes (20%), infections/illnesses (20%), chickenpox (12%), antibiotic intake (8%), diarrhea (4%), and pneumonia (4%). Conclusions: The results are in agreement with the multifactorial idea of the dental enamel defects etiology, but to prove this, further studies enrolling larger, well-diagnosed, and different ethnic populations are necessary to expand the investigation of the genetic and environmental factors that might influence the occurrence of DMH, HPSM, and MIH. [ABSTRACT FROM AUTHOR]

Background: Anemia is a public health problem among adolescents in Indonesia. Strategies to prevent or treat anemia should be tailored to local conditions, taking into account its specific etiology and prevalence in a given setting and population group.Objective: This review aims to (1) identify and synthesize the current knowledge on the etiology of anemia among adolescents in Indonesia, (2) reveal knowledge gaps in this area, and (3) suggest directions for future research and programmatic work.Methods: We systematically searched PubMed, Web of Science, Scopus, Medline, and WorldCat databases for peer-reviewed journal articles to identify which etiological factors were related to anemia among Indonesian adolescents. Research papers were reviewed and included in the review according to inclusion criteria.Results: Of 13 studies, 8 showed that anemia was associated with iron deficiency; 4 are suggestive of vitamin A deficiency; and 2 of folic acid deficiency. Five studies underscore different etiological determinants for anemia, such as malaria, protein and energy malnutrition, vitamin B2 deficiency, calcium, and vitamin C deficiency. Based on these findings, we developed a framework on knowledge gaps on the etiology of anemia among adolescents in Indonesia, divided in 3 levels of knowledge: (1) significant knowledge gaps, (2) knowledge gaps, and (3) established knowledge.Conclusions: The knowledge gaps around the etiology of anemia among Indonesian adolescents are significant. Our framework emphasizes the need for further research across all etiological factors, namely inadequate nutritional intake and absorption, genetic hemoglobin disorders, infection and inflammation, and menstrual disorders. [ABSTRACT FROM AUTHOR]

Molecular pathological epidemiology research provides information about pathogenic mechanisms. A common study goal is to evaluate whether the effects of risk factors on disease incidence vary between different disease subtypes. A popular approach to carrying out this type of research is to implement a multinomial regression in which each of the non-zero values corresponds to a bona fide disease subtype. Then, heterogeneity in the exposure effects across subtypes is examined by comparing the coefficients of the exposure between the different subtypes. In this paper, we explain why this common method potentially cannot recover causal effects, even when all confounders are measured, due to a particular type of selection bias. This bias can be explained by recognizing that the multinomial regression is equivalent to a series of logistic regressions; each compares cases of a certain subtype to the controls. We further explain how this bias arises using directed acyclic graphs and we demonstrate the potential magnitude of the bias by analysis of a hypothetical data set and by a simulation study. [ABSTRACT FROM AUTHOR]

Background: Congenital heart defects (CHDs) are the most common congenital malformations. The aetiology of CHDs is complex. Large cohort studies and systematic reviews and meta-analyses based on these have reported an association between higher risk of CHDs in the offspring and individual maternal metabolic disorders such as obesity, diabetes, hypertension, and preeclampsia, all conditions that can be related to insulin resistance or hyperglycaemia. However, the clinical reality is that these conditions often occur simultaneously. The aim of this review is, in consequence, both to evaluate the existing evidence on the association between maternal metabolic disorders, defined as obesity, diabetes, hypertension, preeclampsia, dyslipidaemia and CHDs in the offspring, as well as the significance of combinations, such as metabolic syndrome, as risk factors. Methods: A systematic literature search of papers published between January 1, 1990 and January 14, 2021 was conducted using PubMed and Embase. Studies were eligible if they were published in English and were case-control or cohort studies. The exposures of interest were maternal overweight or obesity, hypertension, preeclampsia, diabetes, dyslipidaemia, and/or metabolic syndrome, and the outcome of interest was CHDs in the offspring. Furthermore, the studies were included according to a quality assessment score. Results: Of the 2,250 identified studies, 32 qualified for inclusion. All but one study investigated only the individual metabolic disorders. Some disorders (obesity, gestational diabetes, and hypertension) increased risk of CHDs marginally whereas pre-gestational diabetes and early-onset preeclampsia were strongly associated with CHDs, without consistent differences between CHD subtypes. A single study suggested a possible additive effect of maternal obesity and gestational diabetes. Conclusions: Future studies of the role of aberrations of the glucose-insulin homeostasis in the common aetiology and mechanisms of metabolic disorders, present during pregnancy, and their association, both as single conditions and–particularly–in combination, with CHDs are needed. [ABSTRACT FROM AUTHOR]

Background: With the burden of prostate cancer, it has become imperative to exploit cost-effective ways to tackle this menace. Women have demonstrated their ability to recognize early cancer signs, and it is, therefore, relevant to include women in strategies to improve the early detection of prostate cancer. This systematic review seeks to gather evidence from studies that investigated women's knowledge about (1) the signs and symptoms, (2) causes and risk factors, and (3) the screening modalities of prostate cancer. Findings from the review will better position women in the fight against the late detection of prostate cancer. Methods: The convergent segregated approach to the conduct of mixed-methods systematic reviews was employed. Five databases, namely, MEDLINE (EBSCOhost), CINAHL (EBSCOhost), PsycINFO (EBSCOhost), Web of Science, and EMBASE (Ovid), were searched from January 1999 to December 2019 for studies conducted with a focus on the knowledge of women on the signs and symptoms, the causes and risk factors, and the screening modalities of prostate cancer. Results: Of 2201 titles and abstracts screened, 22 full-text papers were retrieved and reviewed, and 7 were included: 3 quantitative, 1 qualitative, and 3 mixed-methods studies. Both quantitative and qualitative findings indicate that women have moderate knowledge of the signs and symptoms and the causes and risk factors of prostate cancer. However, women recorded poor knowledge about prostate cancer screening modalities or tools. Conclusions: Moderate knowledge of women on the signs and symptoms and the causes and risk factors of prostate cancer was associated with education. These findings provide vital information for the prevention and control of prostate cancer and encourage policy-makers to incorporate health promotion and awareness campaigns in health policies to improve knowledge and awareness of prostate cancer globally. Systematic review registration: Open Science Framework (OSF) registration DOI: https://doi.org/10.17605/OSF.IO/BR456 [ABSTRACT FROM AUTHOR]

Copyright of Transylvanian Review of Systematical & Ecological Research is the property of Sciendo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The aetiology of foetal presentation in cattle is still unresolved. The hind legs are the main source of propulsive movement in cattle, which provides changes in foetal presentation. The assumption is that in the absence of hind leg movements of the foetus, as in the case of the congenital malformation, Perosomus elumbis, the incidence of the anterior and posterior presentation will be the same. The Scopus database, the world wide web (www), and the list of article references were searched using the keyword, Perosomus elumbis. Manuscripts with data about the foetal presentation were included and 21 cases in 16 articles were identified. There were 11 cases of anterior presentation and 10 of posterior presentation. The Chi-square test didn't show a statistically significant difference between the incidence of anterior and posterior presentation. This finding supports the assumption that the posterior presentation is the result of the random occupying of the intrauterine space with the same probability of anterior and posterior presentation. To confirm or exclude at random the occupant of the intrauterine space with the same probability for anterior and posterior presentation as a general mechanism for posterior presentation in cattle foetuses, it is necessary to determine the incidence of foetal presentation at birth in various veterinary entities accompanied by an increased incidence of posterior presentation. The aim of the paper was to investigate the incidence of posterior and anterior presentation in Perosomus elumbis. [ABSTRACT FROM AUTHOR]

Chronic Fatigue Syndrome or Myalgic Encephaloymelitis (ME/CFS) is a frequent debilitating disease with an enigmatic etiology. The finding of autoantibodies against ß2-adrenergic receptors (ß2AdR) prompted us to hypothesize that ß2AdR dysfunction is of critical importance in the pathophysiology of ME/CFS. Our hypothesis published previously considers ME/CFS as a disease caused by a dysfunctional autonomic nervous system (ANS) system: sympathetic overactivity in the presence of vascular dysregulation by ß2AdR dysfunction causes predominance of vasoconstrictor influences in brain and skeletal muscles, which in the latter is opposed by the metabolically stimulated release of endogenous vasodilators (functional sympatholysis). An enigmatic bioenergetic disturbance in skeletal muscle strongly contributes to this release. Excessive generation of these vasodilators with algesic properties and spillover into the systemic circulation could explain hypovolemia, suppression of renin (paradoxon) and the enigmatic symptoms. In this hypothesis paper the mechanisms underlying the energetic disturbance in muscles will be explained and merged with the first hypothesis. The key information is that ß2AdR also stimulates the Na+/K+-ATPase in skeletal muscles. Appropriate muscular perfusion as well as function of the Na+/K+-ATPase determine muscle fatigability. We presume that dysfunction of the ß2AdR also leads to an insufficient stimulation of the Na+/K+-ATPase causing sodium overload which reverses the transport direction of the sodium-calcium exchanger (NCX) to import calcium instead of exporting it as is also known from the ischemia-reperfusion paradigm. The ensuing calcium overload affects the mitochondria, cytoplasmatic metabolism and the endothelium which further worsens the energetic situation (vicious circle) to explain postexertional malaise, exercise intolerance and chronification. Reduced Na+/K+-ATPase activity is not the only cause for cellular sodium loading. In poor energetic situations increased proton production raises intracellular sodium via sodium-proton-exchanger subtype-1 (NHE1), the most important proton-extruder in skeletal muscle. Finally, sodium overload is due to diminished sodium outward transport and enhanced cellular sodium loading. As soon as this disturbance would have occurred in a severe manner the threshold for re-induction would be strongly lowered, mainly due to an upregulated NHE1, so that it could repeat at low levels of exercise, even by activities of everyday life, re-inducing mitochondrial, metabolic and vascular dysfunction to perpetuate the disease. [ABSTRACT FROM AUTHOR]

Objectives. The study aimed to detect the presence/quantification of the 12 bacterial strains more frequently in-volved in the occurrence and aggravation of periodontal disease in a group of patients. Material and method. The study included 55 patients of both sexes, from the portfolio of the „Dr. Vodiță“ Dental Clinic, with chronic marginal periodontitis, who had not been under regular dental control and hygiene for at least 2 years. During the first treatment session, fluid was collected from each patient from the periodontal bags using sterile paper cones from the collection putty. Subsequently, fluid-soaked paper cones from periodontal bags were sent to the Genetic Lab in Bucharest for DNA extraction and quantification of 12 bacterial species, more common in the etiology of periodontal disease. For the correctness of the results obtained, it is necessary that patients have not taken antibiotics in the last 3 weeks. The data were analyzed and statistically processed with the Microsoft Excel 2016 program. Results. The least common bacteria found were from the species: Capnocytophaga ochracea, Aggregatibacter actinomycetemcomitans, Eikanella corrodens and Campylobacter rectus, closely followed by Capnocytophaga gingivalis, Prevotella intermedia and Capnocytophaga sputigena. The rest of the bacterial species were detected much more frequently. Discussions. In the analyzed group there was no monoinfection with Aggregatibacter actinomycetemcomitans. Porphyromonas gingivalis had an important presence in the studied group, registering increased levels in 89% of cases. In our group, Treponema denticola was present in increased amounts in 76.36% of cases. Tannerella for-sythia was present in 92.72% of cases in elevated concentrations. Eikanella corrodens and Campylobacter rectus were present in 18.18% of the cases studied in high quantities. Prevotella intermedia was present in significant amounts in 34.54% of cases. Fusobacterium nucleatum was present in high concentrations in 98.18% of the cases studied. Prevotella nigrescens was present in increased amounts in 56.36% of cases. Capnocytophaga ochracea was present in 9.09% of cases in high amounts, Capnocytophaga sputigena in 38.18% of cases, and Capnocy-tophaga gingivalis was detected in 24.45% of cases. Conclusions. From the class of bacteria with high pathogenicity, we most frequently encountered in the studied group Tannerella forsythia. From the class of bacteria with moderate pathogenicity, we encountered the most common Fusobacterium nucleatum. From the class of bacteria with low pathogenicity, we encountered the most common Capnocytophaga sputigena. In order to validate the results obtained, it is necessary to extend the study to a larger number of patients. [ABSTRACT FROM AUTHOR]

Bacterial fruit blotch (BFB) caused by Acidovorax citrulli, represents one of the most destructing diseases of cucurbits, especially to watermelon- and melon producing-regions. This disease has been spread sporadically to many countries globally, due to the unintentionally dispersal of contaminated commercial seeds. The BFB causes massive yield losses up to 100% under conducive conditions. Once infected, all parts of the host plants are extremely susceptible to this bacterium, especially the seedlings and fruits parts. In recent years, various management approaches and detection tools have been employed to control A. citrulli. Genotypic characterization methods revealed two distinct groups of A. citrulli strains; (i) group I strains primarily isolated from non-watermelon cucurbits and consist of moderate to highly aggressive strains from wide range of cucurbit hosts, and (ii) group II strains isolated from watermelon which are highly aggressive on watermelon, but mildly aggressive on non-watermelon hosts. In this paper, an attempt has been made to review research findings where the impact of diverse methods and management approaches were applied in detection and controlling of A. citrulli infection. A better understanding of this devastating bacterium will serve as guidelines for agricultural practitioners in developing the most efficient and sustainable BFB control strategies. [ABSTRACT FROM AUTHOR]

The past 10 years has seen a remarkable advance in our understanding of the disease traditionally referred to as "essential tremor" (ET). First, the clinical phenotype of ET has been expanded from that of a bland, unidimensional, and monosymptomatic entity to one with a host of heterogeneous features. These features include a broader and more nuanced collection of tremors, non-tremor motor features (e.g., gait abnormalities) and a range of non-motor features, including cognitive, psychiatric, sleep, and other abnormalities. The natural history of these features, as well as their relationships with one another and with disease duration and severity, are better appreciated than they were previously. Studies of disease etiology have identified a number of candidate genes as well as explored several environmental determinants of disease. In addition, the decade has seen the beginnings and expansion of rigorous postmortem studies that have identified and described the postmortem changes in the brains of patients with ET. This emerging science has given rise to a new notion that the disease, in many cases, is one of cerebellar system degeneration. Across all of these studies (clinical, etiological, and pathophysiological) is the observation that there is heterogeneity across patients and that "essential tremor" is likely not a single disease but, rather, a family of diseases. The time has come to use the more appropriate terminology, "the essential tremors," to fully describe and encapsulate what is now apparent. In this paper, the author will review the clinical, etiological, and pathophysiological findings, referred to above, and make the argument that the terminology should evolve to reflect advances in science and that "the essential tremors" is a more scientifically appropriate term. [ABSTRACT FROM AUTHOR]

Since the mid-1970s, there have been many reports that purport to implicate aluminium in the aetiology of neurodegenerative disease. After several decades of research, the role of aluminium in such disease remains controversial and is not the subject of this review. However, if aluminium is implicated in such disease then it follows that there must be a toxicological mechanism or mode of action, and many researchers have investigated various potential mechanisms including the involvement of oxidative damage, cytotoxicity and genotoxicity. This paper reviews many of the publications of studies using various salts of aluminium and various genotoxicity end points, both in vitro and in vivo , with a focus on oxidative damage. The conclusion of this review is that the majority, if not all, of the publications that report positive results have serious technical flaws and/or implausible findings and consequently should contribute little or no weight to a weight of evidence (WoE) argument. There are many high-quality, Good Laboratory Practice (GLP)-compliant genotoxicity studies, that follow relevant OECD test guidelines and the European Chemicals Agency (ECHA) integrated mutagenicity testing strategy, on several salts of aluminium; all demonstrate clear negative results for both in vitro and in vivo genotoxicity. In addition, the claim for an oxidative mode of action for aluminium can be shown to be spurious. This review concludes that there are no reliable studies that demonstrate a potential for genotoxicity, or oxidative mode of action, for aluminium. [ABSTRACT FROM AUTHOR]

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Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family counselling. Previously, SCN9A gene variants, in particular a c.1921A>T p.(Asn641Tyr) substitution, have been identified as a likely autosomal dominant cause of febrile seizures/febrile seizures plus and other monogenic seizure phenotypes indistinguishable from those associated with SCN1A, leading to inclusion of SCN9A on epilepsy gene testing panels. Here we present serendipitous findings of genetic studies that identify the SCN9A c.1921A>T p.(Asn641Tyr) variant at high frequency in the Amish community in the absence of such seizure phenotypes. Together with findings in UK Biobank these data refute an association of SCN9A with epilepsy, which has important clinical diagnostic implications. Author summary: Epilepsy is defined as a tendency to have seizures, affecting around 1:100 people worldwide. Some genetic types of epilepsy can be diagnosed using a test that examines genes that have previously been shown to cause epilepsy when affected by genetic alterations. Identifying the genetic cause of a patient's epilepsy can help determine which treatments are likely to be helpful, provide prognostic information and inform accurate family counselling. The genes that are included in diagnostic epilepsy gene testing panels are decided by reviewing published scientific studies. Previous publications have described an association between the SCN9A gene and forms of epilepsy, leading to inclusion of the SCN9A gene in diagnostic testing panels. In this paper we present the results of our genetic findings and follow-up studies of SCN9A gene alterations in the Amish community and UK Biobank, alongside a fresh appraisal of previous studies investigating the role of SCN9A in epilepsy. Together our findings strongly refute an association between SCN9A and epilepsy. This work has important clinical implications and should lead to the revaluation of SCN9A by expert groups and its' removal from genetic testing panels, preventing future genetic misdiagnosis which may have devastating and sometimes lethal consequences. [ABSTRACT FROM AUTHOR]

Epilepsy affects about 70 million people in the world. Every year, approximately 2.4 million people are diagnosed with epilepsy, two-thirds of them will not know the etiology of their disease, and 1% of these individuals will decease as a consequence of it. Due to the inherent complexity of predicting and explaining it, the mathematical model Epileptor was recently developed to reproduce seizure-like events, also providing insights to improve the understanding of the neural dynamics in the interictal and ictal periods, although the physics behind each parameter and variable of the model is not fully established in the literature. This paper introduces an approach to design a feedback-based controller for suppressing epileptic seizures described by Epileptor. Our work establishes how the nonlinear dynamics of this disorder can be written in terms of a combination of linear sub-models employing an exact solution. Additionally, we show how a feedback control gain can be computed to suppress seizures, as well as how specific shapes applied as input stimuli for this purpose can be obtained. The practical application of the approach is discussed and the results show that the proposed technique is promising for developing controllers in this field. [ABSTRACT FROM AUTHOR]

Background: Acute kidney injury (AKI) is a common complication in critically ill patients and is associated with high morbidity and mortality. This paper provides a critical review of the etiologies of AKI and a systematic approach toward its diagnosis and management with emphasis on fluid volume assessment and the use of urine biochemical profile and microscopy in identifying the nature and the site of kidney injury. Materials and methods: The search of PubMed and selection of papers had employed observational designs or randomized control trials relevant to AKI. Results: AKI is defined by the rate of rise of serum creatinine and a decline in urine output. The pathophysiology is diverse and requires a careful and systematic assessment of predisposing factors and localization of site of injury. The majority of AKIs are due to prerenal causes such as fluid volume deficit, sepsis, or renal as in acute tubular injury. The use of central venous and arterial blood pressure monitoring and inferior vena cava echocardiography complemented by urine analysis and microscopy allows assessment of fluid volume status and AKI etiology. Conclusions: Timely intervention by avoidance of fluid volume deficit and nephrotoxic agents and blood pressure support can reduce the incidence of AKI in critically ill patients. [ABSTRACT FROM AUTHOR]

Numerous concerns about menopause exist among women, and fear of an increase in body weight is one of the most important of them. This paper presents an overview of current knowledge concerning the etiology of obesity related to menopause and about the mechanisms of its development, with particular regard to the hormonal changes that occur during this period of life. The role of estrogens in the regulation of energy balance and the effect of sex hormones on metabolism of adipose tissue and other organs are presented. The consequence of the sharp decline in the secretion of estrogens with subsequent relative hyperandrogenemia is briefly discussed. The main intention of this review is to clarify what is inevitable and what perhaps results from negligence and unhealthy lifestyles. In the last part of the paper the possibilities of counteracting the progress of adverse changes in body composition, by promoting beneficial lifestyle modifications and the use of hormonal substitution treatment, in cases where it is reasonable and possible, are described. [ABSTRACT FROM AUTHOR]

Global developmental delay (GDD) is a chronic neurological disturbance which includes defects in one or more developmental domains. The developmental domain can be motor, cognitive, daily activities, speech or language, and social or personal development. The etiology for GDD can be prenatal, perinatal, or postnatal. It can be diagnosed early in childhood as the delay or absence of one or more developmental milestones. Hence the role of pedodontist and pediatricians becomes more crucial in identifying this condition. The diagnosis of GDD requires a detailed history including family history and environmental risk factors followed by physical and neurological examinations. Investigations for GDD include diagnostic laboratory tests, brain imaging, and other evidence-based evaluations. GDD affects multiple developmental domains that not only have direct bearing on maintenance of oral health, but also require additional behavior management techniques to deliver optimal dental care. This paper describes two different spectra of children with GDD. Since the severity of GDD can vary, this paper also discusses the different behavior management techniques that were applied to provide dental treatment in such children. [ABSTRACT FROM AUTHOR]

Background China may have the largest number of Budd-Chiari syndrome ( BCS) cases in the world (at least 1914 original papers were published, and at least 20 191 BCS patients were reported). Considering the discrepancy in the clinical profiles and preferred treatment selection of primary BCS between the West and China, understanding its aetiology in these two different regions is very important. Aim To review the data from large cohort studies and meta-analyses to illustrate the epidemiology of risk factors for BCS in the West and China. Methods Relevant papers were identified by major English- and Chinese-language databases, conference abstracts, and by manual search. Results Risk factors reviewed include myeloproliferative neoplasms ( MPNs) and their related gene mutations, anti-phospholipid syndrome, paroxysmal nocturnal haemoglobinuria ( PNH), hyperhomocysteinaemia and 5,10-methylenetetrahydrofolate reductase ( MTHFR) C677T mutation, factor V Leiden ( FVL) and prothrombin G20210A mutations, inherited anti-thrombin, protein C and protein S deficiencies, pregnancy and puerperium, poverty, and family history. Conclusions We examined the differences in the aetiological distribution of BCS between the West and China. Several recommendations should be considered in Chinese BCS patients: (i) screening for hyperhomocysteinaemia and MTHFR mutation should be regularly performed; (ii) screening for MPNs, PNH, and anti-phospholipid syndrome should be selectively performed; (iii) inherited anti-thrombin, protein C, and protein S deficiencies should be actively explored; (iv) screening for FVL and prothrombin G20210A mutations may be unnecessary; and (v) the clinical significance of pregnancy and puerperium, poverty with bacterial infections and unsanitary environments, and family history as possible risk factors should never be neglected. [ABSTRACT FROM AUTHOR]

Motivation: Copy number variants (CNVs) have been implicated in a variety of neurodevelopmental disorders, including autism spectrum disorders, intellectual disability and schizophrenia. Recent advances in high-throughput genomic technologies have enabled rapid discovery of many genetic variants including CNVs. As a result, there is increasing interest in studying the role of CNVs in the etiology of many complex diseases. Despite the availability of an unprecedented wealth of CNV data, methods for testing association between CNVs and disease-related traits are still underdeveloped due to the low prevalence and complicated multi-scale features of CNVs. Results: We propose a novel CNV kernel association test (CKAT) in this paper. To address the low prevalence, CNVs are first grouped into CNV regions (CNVR). Then, taking into account the multiscale features of CNVs, we first design a single-CNV kernel which summarizes the similarity between two CNVs, and next aggregate the single-CNV kernel to a CNVR kernel which summarizes the similarity between two CNVRs. Finally, association between CNVR and disease-related traits is assessed by comparing the kernel-based similarity with the similarity in the trait using a score test for variance components in a random effect model. We illustrate the proposed CKAT using simulations and show that CKAT is more powerful than existing methods, while always being able to control the type I error. We also apply CKAT to a real dataset examining the association between CNV and autism spectrum disorders, which demonstrates the potential usefulness of the proposed method. [ABSTRACT FROM AUTHOR]

Introduction: This paper summarizes different conditions, which have a well-known influence on the resorption of tooth roots. It also highlights factors important for individual susceptibility to root resorption. Furthermore, the paper focuses on idiopathic root resorption where the provoking factor is not known. The Hypothesis: The several different disturbances causing root resorption can be either orthodontically provoked or acquired by trauma, virus or congenital diseases. It is presumed that all these conditions lead to inflammatory processes in the three main tissue layers, comprising the peri-root sheet. Evaluation of the Hypothesis: This paper explains how different etiologies behind root resorption and how different phenotypic traits in root resorption can be understood from immunohistochemical studies of the human periodontal membrane close to the root and thus, gain a new understanding of the phenomenon of root resorption. [ABSTRACT FROM AUTHOR]

Background Geographical variation in dementia prevalence and incidence may indicate important socio-environmental contributions to dementia aetiology. However, previous comparisons have been hampered by combining studies with different methodologies. This review systematically collates and synthesizes studies examining geographical variation in the prevalence and incidence of dementia based on comparisons of studies using identical methodologies.Methods Papers were identified by a comprehensive electronic search of relevant databases, scrutinising the reference sections of identified publications, contacting experts in the field and re-examining papers already known to us. Identified articles were independently reviewed against inclusion/exclusion criteria and considered according to geographical scale. Rural/urban comparisons were meta-analysed.Results Twelve thousand five hundred and eighty records were reviewed and 51 articles were included. Dementia prevalence and incidence varies at a number of scales from the national down to small areas, including some evidence of an effect of rural living [prevalence odds ratio (OR) = 1.11, 90% confidence interval (CI) 0.79–1.57; incidence OR = 1.20, 90% CI 0.84–1.71]. However, this association of rurality was stronger for Alzheimer disease, particularly when early life rural living was captured (prevalence OR = 2.22, 90% CI 1.19–4.16; incidence OR = 1.64, 90% CI 1.08–2.50).Conclusions There is evidence of geographical variation in rates of dementia in affluent countries at a variety of geographical scales. Rural living is associated with an increased risk of Alzheimer disease, and there is a suggestion that early life rural living further increases this risk. However, the fact that few studies have been conducted in resource-poor countries limits conclusions. [ABSTRACT FROM PUBLISHER]

Konzo (caused by consumption of improperly processed cassava, Manihot esculenta) and neurolathyrism (caused by prolonged overconsumption of grass pea, Lathyrus sativus) are two distinct non-infectious upper motor neurone diseases with identical clinical symptoms of spastic paraparesis of the legs. They affect many thousands of people among the poor in the remote rural areas in the central and southern parts of Africa afflicting them with konzo in Ethiopia and in the Indian sub-continent with neurolathyrism. Both diseases are toxico-nutritional problems due to monotonous consumption of starchy cassava roots or protein-rich grass pea seeds as a staple, especially during drought and famine periods. Both foods contain toxic metabolites (cyanogenic glycosides in cassava and the neuro-excitatory amino acid b-ODAP in grass pea) that are blamed for theses diseases. The etiology is also linked to the deficiency in the essential sulfur amino acids that protect against oxidative stress. The two diseases are not considered reportable by the World Health Organization (WHO) and only estimated numbers can be found. This paper analyzes research performance and determines scientific interest in konzo and neurolathyrism. A literature search of over 21 years (from 1990 to 2010) shows that in terms of scientific publications there is little interest in these neglected motorneurone diseases konzo and neurolathyrism that paralyze the legs. Comparison is made with HTLV-1/TSP, an infectious disease occurring mainly in Latin America of which the clinical manifestation is similar to konzo and neurolathyrism and requires a differential diagnosis. Our findings emphasize the multidisciplinary nature of studies on these neglected diseases, which however have not really captured the attention of decision makers and project planners, especially when compared with the infectious HTLV-1/TSP. Konzo and neurolathyrism can be prevented by a balanced diet. [ABSTRACT FROM AUTHOR]

Eosinophilic fasciitis (EF) or Shulman's disease is a very rare condition first described in 1974 by Dr. Shulman in patients with diffuse fasciitis and eosinophilia. Fewer than 300 cases have been reported worldwide in the past 35 years. The current understanding of the disease in the medical community relies only on a few large case series and multiple case reports. The proposed etiology, pathological mechanisms, and consensus for therapy are obscure or lacking. The presentation of the disease is variable, but certain signs and symptoms have been associated with EF. The extreme rarity of the disease, the large constellation of signs and symptoms, as well as the lack of knowledge about eosinophilic fasciitis and make this disease difficult to recognize and treat. Through the review of the literature, there is only one other case by Yamanishi where recurrent asthma has been seen to be associated with eosinophilic fasciitis. To the knowledge of the authors of this paper this patient represents the second recorded incident. The case described by the authors of this paper demonstrated an initial biopsy of mixed cell fasciitis including eosinophils, compared to the eosinophil-rich sample taken at a later date. This could be a unique aspect to the pathology of the disease not previously discovered. Similar scenarios were not noted in a review of the literature. A change in the pathological findings as shown in this case from non-eosinophil-rich sample to one rich in eosinophils is unique in a patient actively suffering from EF. The authors of this paper propose that an allergic reaction (at the patient's puncture site) occurred, which initially caused the left hand symptoms that led to the patient's first presentation to the hospital. This is a unique causative agent, not found in the review of the literature. Through a review of the literature and the presentation of this patient, the authors propose an underlying dysregulation of the immune system, leading to the initiation or synergistic perpetuation of EF. This is a unique outlook on the disease pathology, not explained much in the medical literature. [ABSTRACT FROM AUTHOR]

Eponyms continue to have their place in medicine but there are pitfalls associated with their use. 'Priorities' may be debatable, misattributions are not uncommon, and knowledge of the original papers is often insufficient. A. Ya. Kozhevnikov (1836-1902) is considered to be the founder of the Russian neurology, best known in the West for his work on epilepsia partialis continua (EPC), published in 1894. Kozhevnikov considered various natures for this disorder but thought chronic infectious etiology to be the most probable. Shortly the eponym Kozhevnikov epilepsy was coined and used in clinical practice and writing. Thirty-five years after Kozhevnikov's death, in 1937, a new form of viral encephalitis, Russian spring-summer tick-borne encephalitis (RTBE), was discovered, which was strongly associated with EPC and at times incorrectly attributed to Kozhevnikov by Russian (Soviet) and West-European scientists, although he never specifically identified or even could have recognized this disease entity. When, in 1958, Canadian scientists published about persisting focal epilepsy due to chronic focal encephalitis in children, a new disease was proclaimed: Rasmussen syndrome or Rasmussen chronic encephalitis. The only reference to Kozhevnikov in the Canadian papers was the incorrect suggestion that Kozhevnikov himself described EPC in RTBE. This historical error resulted in continuing misquotations of Kozhevnikov in the current literature and controversies concerning the place of Kozhevnikov epilepsy in the Classification Scheme of the International League Against Epilepsy (ILAE). The history of Kozhevnikov epilepsy thereby offers an illustrative example of the successive misunderstandings, errors, and controversies that arise due to insufficient knowledge or understanding of the original publications, questionable post hoc interpretations of earlier findings, misquoting of secondary papers, or a combination of all these. [ABSTRACT FROM AUTHOR]

Background: The genetic etiology of intellectual and psychomotor disability without a defined spectrum of dysmorphic features is usually monogenic. As no diagnostic criteria for such diseases are established, the clinical diagnosis becomes to be a challenge. The object of our paper is to present two patients with non‐specific clinical symptoms for whom whole‐exome‐sequencing identified the new SON mutations and thus allowed for establishing the diagnosis of Zhu‐Tokita‐Takenouchi‐Kim (ZTTK) syndrome. In both patients, the same symptoms including hypotonia, developmental and speech delay, feeding difficulties as well as frequent infections of the respiratory tract and internal ear were observed. However, both cases presented also with exceptional symptoms such as in case 1 ventriculomegaly and asymmetry of ventricles, hypoplastic left heart syndrome (HLHS), intellectual disability, intestinal malrotation, gastroparesis, and duodenal atresia and in the case 2 febrile seizures and reduced IgA levels. We will be presenting the patients and comparing them to 30 previously described cases. Methods: Whole‐exome sequencing (WES) was performed on the probands' DNA and paired‐end sequenced (2x100 bp) on HiSeq 1500. Variants considered as disease‐causing were validated in the proband and studied in all available family members by amplicon deep sequencing performed using Nextera XT Kit and sequenced on HiSeq 1500. Results: We have identified two new variants in SON gene. In case 1 it has been a heterozygous frameshift variant p.(Ala1340GlnfsTer26), while in case 2 it has been a heterozygous frameshift variant, p.(Asp1640GlyfsTer7). Both variants are described for the first time and up to now, are not mentioned in any database. Conclusion: As there are no precise criteria established for the clinical diagnosis of ZTTK, an identification of SON gene mutation by whole‐exome‐sequencing is the best method that allows for a diagnosis of this syndrome. [ABSTRACT FROM AUTHOR]

Background: The incidence of Waldenström macroglobulinemia (WM) has increased in certain groups over several decades in the United States. It is unclear whether the increasing incidence is associated with mortality trends. Methods: The incidence and incidence-based mortality (IBM) rates were obtained from the Surveillance, Epidemiology, and End Results (SEER) database (1980–2016) with SEER*Stat software. The secular trends stratified by demographic characteristics were analyzed by joinpoint regression. Results: The incidence of WM showed an initial rapid increase from 1980 to 1993 {annual percentage change (APC), 14.1% [95% confidence interval (CI), 10 to 18.4%]}, whereas it began to stabilize from 1993 to 2016 [APC, 0.5% (95% CI, −0.3 to 1.3%)]. The WM IBM trend followed a similar pattern, with a decrease occurring around 1994. The trends in the incidence and mortality significantly differed according to geographic location, race, age, sex, primary site of involvement and subtype, which could help in further investigations into the specific etiology. Moreover, a dramatic increase in the 5-year survival rate from the 1980s to 2010s was observed (47.84 vs. 69.41%). Conclusions: Although both the incidence and IBM of WM continued to increase during the study period, a reduction in the rate of increase occurred around 1993. We believe that further advances in healthcare delivery and research can ensure a low mortality rate. Future studies can use the findings of this paper to monitor the results of WM therapy. [ABSTRACT FROM AUTHOR]