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Progressive myoclonic epilepsy (PME) is a heterogeneous neurogenetic disorder manifesting as progressive myoclonus, seizure, and ataxia. We report a case of PME caused by a novel DHDDS variant. Additionally, by reviewing the literature on DHDDS mutations, we compared the phenotype of our patient with previously reported phenotypes. We identified DHDDS (c.638G>A, p. Ser213Asn) as a likely pathogenic variant. The literature review revealed 15 PME patients with DHDDS mutations from 13 unrelated families. According to previous studies, late‐onset patients tend to have a slow‐progressive disease course. Although his myoclonus and ataxia were adult onset, our patient experienced rapid disease aggravation.

The diagnosed COVID-19 cases revealed that the incubation periods (IP) varied a lot among patients. However, few studies had emphasized on the different clinical features and prognosis of patients with different IP. A total of 330 patients with laboratory-confirmed COVID-19 were enrolled and classified into immediate onset group(IP10 days, L group, 75 cases) based on IP. The difference of clinical characteristics and prognosis of the two groups were compared. There were more patients with fever in I group than in L group(P = 0.003), and counts of all the total lymphocytes, total T lymphocytes, CD4 + and CD8 + T lymphocytes were significantly different between the two groups(all P

Background Long-term exposure to fine particulate matter (PM2.5) has been associated with neurodegenerative diseases, including disease aggravation in Parkinson's disease (PD), but associations with specific PM2.5 components have not been evaluated. Objective To characterize the association between specific PM2.5 components and PD first hospitalization, a surrogate for disease aggravation. Methods We obtained data on hospitalizations from the New York Department of Health Statewide Planning and Research Cooperative System (2000–2014) to calculate annual first PD hospitalization counts in New York State per county. We used well-validated prediction models at 1 km2 resolution to estimate county level population-weighted annual black carbon (BC), organic matter (OM), nitrate, sulfate, sea salt (SS), and soil particle concentrations. We then used a multi-pollutant mixed quasi-Poisson model with county-specific random intercepts to estimate rate ratios (RR) of one-year exposure to each PM2.5 component and PD disease aggravation. We evaluated potential nonlinear exposure–outcome relationships using penalized splines and accounted for potential confounders. Results We observed a total of 197,545 PD first hospitalizations in NYS from 2000 to 2014. The annual average count per county was 212 first hospitalizations. The RR (95% confidence interval) for PD aggravation was 1.06 (1.03, 1.10) per one standard deviation (SD) increase in nitrate concentrations and 1.06 (1.04, 1.09) for the corresponding increase in OM concentrations. We also found a nonlinear inverse association between PD aggravation and BC at concentrations above the 96th percentile. We found a marginal association with SS and no association with sulfate or soil exposure. Conclusion In this study, we detected associations between the PM2.5 components OM and nitrate with PD disease aggravation. Our findings support that PM2.5 adverse effects on PD may vary by particle composition.

Background: Coronavirus disease 2019 (COVID-19) pandemic is continuing to impact multiple countries worldwide and effective treatment options are still being developed. In this study, we investigate the potential of high-dose intravenous vitamin C (HDIVC) in the prevention of moderate COVID-19 disease aggravation.Methods: In this retrospective before-after case-matched clinical study, we compare the outcome and clinical courses of patients with moderate COVID-19 patients who were treated with an HDIVC protocol (intravenous injection of vitamin C, 100 mg/kg/day, 1 g/h, for 7 days from admission) during a one-month period (between March 18 and april 18, 2020, HDIVC group) with a control group treated without the HDIVC protocol during the preceding two months (January 18 to March 18, 2020). Patients in the two groups were matched in a 1:1 ratio according to age and gender.Results: The HDIVC and control groups each comprised 55 patients. For the primary outcomes, there was a significant difference in the number of patients that evolved from moderate to severe type between the two groups (HDIVC: 4/55 vs. control: 12/55, relative risk [RR] = 0.28 [0.08, 0.93], P = 0.03). Compared to the control group, there was a shorter duration of systemic inflammatory response syndrome (SIRS) (P = 0.0004) during the first week and lower SIRS occurrence (2/21 vs 10/22, P = 0.0086) on Day 7 (6–7 days after admission). In addition, HDIVC group had lower C-reactive protein levels (P = 0.005) and higher number of CD4+ T cells from Day 0 (on admission) to Day 7 (P = 0.04).” The levels of coagulation indicators, including activated partial thromboplastin time and D-dimer were also improved in the HDIVC compared to the control group on Day 7.Conclusion: HDIVC may be beneficial in limiting disease aggravation in the early stage of COVID-19 pneumonia, which may be related to its improvements on the inflammatory response, immune function and coagulation function. Further randomized controlled trials are required to augment these findings.

Atopic dermatitis (AD), a chronic inflammatory skin disease affecting children and adults, presents as mild-to-moderate disease in the majority of patients. Pruritus, one of the key diagnostic criteria for AD, is associated with reduced quality of life and disease aggravation. Current treatments include emollients and topical pharmaceutical agents. Topical corticosteroids (TCSs) are commonly used, but are associated with safety concerns with cutaneous and systemic side effects. Topical calcineurin inhibitors (TCIs) inhibit T-lymphocyte activation, but their use is limited because of application-site infections and a boxed warning for potential malignancy risk. Despite recent reports indicating there is no malignancy risk, long-term treatment with TCIs is still considered with hesitancy. In addition, while both TCSs and TCIs provide some relief of pruritus, it often takes over a week for improvement to occur. The development of a more specific anti-inflammatory treatment which is easy to use and targets pruritus could provide clinically meaningful improvements for patients with AD. The majority of emerging therapies for AD are focused on inhibiting phosphodiesterase 4 (PDE4), an enzyme which is increased in inflammatory disorders such as AD. This review will update readers on the recent advances in topical therapies, including PDE4 inhibitors, for the treatment of AD.

Background Postural abnormalities in Parkinson's disease (PD) patients and unimpaired elderly are not well differentiated. Factors related to postural abnormality associated with PD are controversial. Objective We assessed differences in postural change between PD patients and unimpaired elderly and elucidated factors related to abnormal posture in PD patients. Methods We measured the dropped head angle (DHA), anterior flexion angle (AFA), and lateral flexion angle (LFA) of the thoracolumbar spine of an unprecedented 1,117 PD patients and 2,732 general population participants (GPPs) using digital photographs. Two statistical analyses were used for elucidating factors related to these angles. Results In GPPs, age was correlated with DHA, AFA, and LFA. DHAs, AFAs, and LFAs of PD patients and age-matched GPPs were 21.70° ± 14.40° and 13.13° ± 10.79°, 5.98° ± 12.67,°and - 3.82° ± 4.04°, and 0.86° ± 4.25° and 1.33° ± 2.16°, respectively. In PD patients, factors related to DHA were age, male sex, and H & Y stage during ON time. Factors related to AFA were age, duration of disease, H & Y stage during ON and OFF times, pain, vertebral disease, and bending to the right. A factor related to LFA was AFA. Conclusions DHA and AFA of GGPs correlated with age and were larger in PD patients than those with in GPPs. Some PD patients showed angles far beyond the normal distribution. Thus, factors associated with disease aggravation affected postural abnormality in PD patients.

Eiji Kose,1 Taesong An,2 Akihiko Kikkawa,2 Yoshiaki Matsumoto,3 Hiroyuki Hayashi1 1Department of Pharmacotherapy, School of Pharmacy, Nihon University, Funabashi, 2Yokosuka Kyousai Hospital, Yokosuka, 3Department of Clinical Pharmacokinetics, School of Pharmacy, Nihon University, Funabashi, Japan Background: Chronic kidney disease (CKD) is associated with a high risk of cardiovascular disease complications. Therefore, medical institutions conduct educational hospitalization for early treatment and education of CKD patients. However, patients who have been discharged after achieving educational targets can end up showing poor symptoms at home. There also have been several cases of rehospitalization or disease aggravation. In this study, we analyzed rehospitalized patients who were discharged from the hospital after CKD educational hospitalization and investigated the purpose of analyzing rehospitalization factors. Materials and methods: This was an observational case-control study conducted at Yokosuka Kyousai Hospital. We performed univariate analysis using patient background features and laboratory data between a rehospitalization group and a no-rehospitalization group. Next, we performed multiple logistic regression analysis using the results of the univariate analysis. Results: From the results of this study, we identified independent risk factors, such as serum albumin level, heart-failure complications, and estimated glomerular filtration rate (eGFR). Moreover, the serum Alb level was identified as the most important risk factor for rehospitalization. Therefore, we considered that it is important to live a life that makes it possible to maintain CKD stage G3b for a long time after discharge, because the cutoff level of eGFR is 31 mL/minute/1.73 m2. Conclusion: We believe that it is important to educate patients, their families, and medical staff on the importance of early detection and treatment, and we consider that this approach is important to inclusively protect the kidney. Keywords: albumin, glomerular filtration rate, cardiovascular disease, stages of chronic kidney disease

Poster-Abstract

The article analyzes the results obtained by modern Russian and foreign researchers who focused on the pathogenic factors responsible for the appearance and the development of atopic dermatitis. The reasons for skin dryness appearance, the mechanisms of itch development, the immune system role in allergic skin inflammation: the involvement of lymphocytes, antigen presenting sells, mast cells, basophiles and eosinophiles into the pathological process have been thoroughly observed. The causes contributing to atopic dermatitis development and triggering disease aggravation have been described.

Cannabinoids are found to be very useful in psychiatry because of their antipsychotic properties suggesting a therapeutic use as neuroleptic agents in limiting psychotic diseases. Cannabinoids treatments are both able to reduce the typical symptoms of schizophrenia and to slow down the disease aggravation. In the present review, we reported recent studies supporting the idea that the cannabinoid system may modulate the activity of the striatum and temporal cortex linked to psychosis and schizophrenia. Furthermore, anatomical, electrophysiological, pharmacological and biochemical data suggest that the psychotic disorders related to the impaired cannabinoid system may lead to the development of novel compounds that selectively target specific elements of the cannabinoid system.

Contains fulltext : 62152.pdf (Publisher’s version ) (Closed access) Examples from experimental epilepsy in animals are used to illustrate the view that a crucial role of the transfer of mechanisms from compensatory into pathogenic (e.g. lethal ones in the course of a disease), is played by the power of pathologic stimuli. In the genesis of epilepsy it is suggested that a critical increase of endogenous factors may underlie the conversion of the absence form of epilepsy into a generalized self-supporting form. The ability to precipitate endogenous self-augmenting mechanisms of diseases may have increased in the course of evolution. The lethal result of a serious pathogenic process leads to the suggestion that organisms cope with the disease by dying. This prevents spreading of the putative infectious disease within the population. The mechanisms of disease aggravation could pay a role in the survival of the species and in further evolutionary progress. This may explain why certain species may have survived in evolution and supports the theory of synthetic evolution.

Patient-specific, disease-course predictions with >95% or >99% accuracy during therapy would be highly valuable for everyday medicine. If these predictors were available, disease aggravation or progression, frequently accompanied by irreversible tissue damage or therapeutic side effects, could then potentially be avoided by early preventive therapy. The molecular analysis of heterogeneous cellular systems (cytomics) by cytometry in conjunction with pattern-oriented bioinformatic analysis of the multiparametric cytometric and other data provides a promising approach to individualized or personalized medical treatment or disease management. As a consequence, better patient care and new forms of inductive scientific hypothesis development based on the interpretation of predictive data patterns are at reach. Cytometry Part B (Clin. Cytometry) 53B:1–3, 2003. © 2003 Wiley-Liss, Inc.

CD55 (decay accelerating factor) is best known for its role in the negative regulation of the complement system. Indeed, lack of this molecule leads to disease aggravation in many inflammatory disease models. However, CD55 is abundantly present on fibroblast-like …

Cytogenetic analysis provides information of diagnostic and prognostic importance for malignant diseases, after all for hematological malignancies. Furthermore, it may contribute to the elucidation of the course of disease before, during and after different therapeutic measures. The main goal of the tumor cytogeneticist is the discovery of primary non-random chromosome abnormalities specific to a certain tumor type and playing a role in tumor development. In addition, he has to study the so-called secondary chromosome abnormalities, since in most cases they herald a disease aggravation, e.g. the transition from pre-leukemia into overt leukemia or from a low-grade lymphoma into a high-grade lymphoma.

HIV infection is characterized by accelerated apoptosis and progressive loss of B cells. To see whether these abnormalities are related to the property of gp120 to act as a superantigen for VH3(+) B cells, we probed the temporal development of VH3(+) antibodies in HIV-1-infected subjects over a 7-year period. We found that VH3(+) antibodies specific for the gp120 superantigen binding site are deficient. Since VH3(+) antibodies impart protective responses to infectious agents, we quantified VH3(+) antibodies in serum samples from HIV-seropositive slow progressors and from patients who progressed to AIDS-related manifestations. We found that paucity in VH3(+) antibodies is a marker of rapid clinical decline. Remarkably, anti-gp160 VH3(+) antibodies showed a gradual decrease in progressors and, with time, varied depending on the viral load. We conclude that disease aggravation is associated with a decrease of the magnitude of the humoral response, that VH3(+) antibodies play an important role in protection, and that their underexpression may accelerate disease progression. We propose that vaccine preparations able to trigger VH3(+) antibodies might confer a better protection against HIV infection. This work also represents a novel mechanism of humoral deficiency resulting from the capacity of a viral antigen to affect an important subset of the B cell repertoire and to induce B cell death by apoptosis.