scholarly journals Acute posterior multifocal placoid pigment epitheliopathy (APMPPE)

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ilaria Testi ◽  
Sandra Vermeirsch ◽  
Carlos Pavesio
Keyword(s):  
Good Prognosis ◽  
Significant Loss ◽  
Response To Treatment ◽  
Long Term Outcomes ◽  
Comprehensive Overview ◽  
Fundus Imaging ◽  
Inflammatory Eye Disease ◽  
Vision Function

Abstract Background Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is a rare inflammatory eye disease, affecting the inner choroid and the outer retina. Recent advances in multimodal imaging have been important in the understanding of the pathophysiology of the disease, allowing a better characterization of the morphology of this condition. Methods Narrative review. Results In this review, a comprehensive overview of clinical features, imaging findings, treatment management, and long-term outcomes of patients with APMPPE will be provided. Conclusions Although APMPPE was originally believed to be a self-limited condition with a good prognosis, the disease can be recurrent and result in significant loss of vision function. Fundus imaging plays an important role in the diagnosis and management of the disease, allowing to evaluate response to treatment and onset of complications.

scholarly journals Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy

2020 ◽  
Vol 97 (6) ◽  
pp. 1260-1274 ◽  
Author(s):  
Vicky Brocklebank ◽  
Gurinder Kumar ◽  
Alexander J. Howie ◽  
Jayanthi Chandar ◽  
David V. Milford ◽  
...  
Keyword(s):  
Diacylglycerol Kinase ◽  
Response To Treatment ◽  
Long Term Outcomes

scholarly journals The Genetic, Environmental, and Immunopathological Complexity of Autoantibody-Negative Rheumatoid Arthritis

2021 ◽  
Vol 22 (22) ◽  
pp. 12386
Author(s):  
Ludovico De Stefano ◽  
Bernardo D’Onofrio ◽  
Antonio Manzo ◽  
Carlomaurizio Montecucco ◽  
Serena Bugatti
Keyword(s):  
Rheumatoid Arthritis ◽  
Clinical Presentation ◽  
Adaptive Immune System ◽  
Response To Treatment ◽  
Targeted Intervention ◽  
Long Term Outcomes ◽  
Inflammatory Cascade ◽  
Adaptive Immune ◽  
Disease Subtypes

Differences in clinical presentation, response to treatment, and long-term outcomes between autoantibody-positive and -negative rheumatoid arthritis (RA) highlight the need for a better comprehension of the immunopathogenic events underlying the two disease subtypes. Whilst the drivers and perpetuators of autoimmunity in autoantibody-positive RA have started to be disclosed, autoantibody-negative RA remains puzzling, also due its wide phenotypic heterogeneity and its possible misdiagnosis. Genetic susceptibility appears to mostly rely on class I HLA genes and a number of yet unidentified non-HLA loci. On the background of such variable genetic predisposition, multiple exogeneous, endogenous, and stochastic factors, some of which are not shared with autoantibody-positive RA, contribute to the onset of the inflammatory cascade. In a proportion of the patients, the immunopathology of synovitis, at least in the initial stages, appears largely myeloid driven, with abundant production of proinflammatory cytokines and only minor involvement of cells of the adaptive immune system. Better understanding of the complexity of autoantibody-negative RA is still needed in order to open new avenues for targeted intervention and improve clinical outcomes.

Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences

2020 ◽  
pp. jmedgenet-2020-107178
Author(s):  
Christoffer Rasmus Vissing ◽  
Torsten Bloch Rasmussen ◽  
Anne Mette Dybro ◽  
Morten Salling Olesen ◽  
Lisbeth Nørum Pedersen ◽  
...  
Keyword(s):  
Heart Transplantation ◽  
Dilated Cardiomyopathy ◽  
Ventricular Arrhythmias ◽  
Left Ventricular ◽  
Response To Treatment ◽  
Composite Outcome ◽  
Long Term Outcomes ◽  
Female Sex ◽  
Negative Predictor

BackgroundTruncating variants in titin (TTNtv) are the most common cause of dilated cardiomyopathy (DCM). We evaluated the genotype-phenotype correlation in TTNtv-DCM, with a special focus on long-term outcomes, arrhythmias, response to treatment and sex-related presentation.MethodsData on patient characteristics and outcomes were collected retrospectively from electronic health records of patients genotyped at two Danish heart transplantation centres.ResultsWe included 115 patients (66% men). At diagnosis of DCM, mean age was 46±13 years and left ventricular ejection fraction (LVEF) was 28%±13%. During a median follow-up of 7.9 years, 26% reached a composite outcome of left ventricular assist device implantation, heart transplantation or death. In 20% an arrhythmia preceded the DCM diagnosis. In total, 43% had atrial fibrillation (AF) and 23% had ventricular arrhythmias. Long-term left ventricular reverse remodelling (LVRR; LVEF increase ≥10% points or normalisation) was achieved in 58% and occurred more frequently in women (72% vs 51%, p=0.042).In multivariable proportional hazards analyses, occurrence of LVRR was a strong independent negative predictor of the composite outcome (HR: 0.05 (95% CI 0.02 to 0.14); p<0.001). Female sex independently predicted lower rates of ventricular arrhythmias (HR: 0.33 (95% CI 0.11 to 0.99); p=0.05), while the location of the TTNtv was not associated with cardiovascular outcomes.ConclusionDCM caused by TTNtv presented in midlife and was associated with a high burden of AF and ventricular arrhythmias, which often preceded DCM diagnosis. Furthermore, LVRR occurred in a high proportion of patients and was a strong negative predictor of the composite outcome. Female sex was positively associated with occurrence of LVRR and longer event-free survival.

Extracorporeal Cardiopulmonary Resuscitation (ECPR) in Infants and Children: A Single-Center Retrospective Study

2019 ◽  
Vol 10 (5) ◽  
pp. 582-589
Author(s):  
Aqsa Shakoor ◽  
Felipe E. Pedroso ◽  
Shimon E. Jacobs ◽  
Shunpei Okochi ◽  
Ariela Zenilman ◽  
...  
Keyword(s):  
Cardiopulmonary Resuscitation ◽  
Pediatric Patients ◽  
Single Center ◽  
Long Term Outcomes ◽  
Neurologic Injury ◽  
Extracorporeal Cardiopulmonary Resuscitation ◽  
Thrombotic Complications ◽  
Baseline Characteristics

Background: Extracorporeal cardiopulmonary resuscitation (ECPR) is increasingly used to rescue patients with cardiac arrest refractory to conventional therapy, necessitating evaluation of factors that may affect outcomes. Methods: A single-center retrospective review of pediatric patients (<21 years old) who underwent ECPR from January 2010 to November 2017. Comparisons between nonsurvivors and survivors, to decannulation and discharge, were made. Factors associated with survival and rate of complications were examined. Results: Seventy patients were supported with ECPR. Forty-nine (70%) patients survived to decannulation and 38 (54%) patients to discharge. There was no statistical difference between baseline characteristics of survivors and nonsurvivors, including age at cannulation, weight (kg), time to cannulation (minutes), and total time on extracorporeal membrane oxygenation (hours). Survivors to discharge had significantly higher pH prior to cannulation compared to nonsurvivors (7.11 ± 0.24 vs 6.97 ± 0.21, P = .01). Of all, 23.2% of patients received renal replacement therapy (RRT), 39.4% had significant bleeding, 22.5% had thrombotic complications, and 68.8% had neurologic injury on imaging studies. A greater number of nonsurvivors received RRT compared to survivors to discharge (35.5% vs 10.8%, P = .02). There were no differences in bleeding or thrombotic complications or radiographically established neurologic injury. Conclusions: Although ECPR effectively increases overall survival, a better characterization of long-term outcomes is needed.

scholarly journals Autism and Gender Identity

2021 ◽  
Author(s):  
Yulia Furlong
Keyword(s):  
Autism Spectrum ◽  
Turn Of The Century ◽  
Long Term Outcomes ◽  
Comprehensive Overview ◽  
Related Services ◽  
The Public ◽  
Gender Diverse ◽  
And Gender ◽  
Gender Spectrum

Since the turn of the century, we are witnessing a dramatic surge in the numbers of children and adolescents referred to gender clinics, this is happening in the context of general increase in numbers of individuals identifying as non-binary. The chapter ahead will initially address the shifting landscape of gender dysphoria (GD), and provides a comprehensive overview of the latest findings in the fields of autism and GF. The higher rates of autism’ diagnosis among gender diverse samples prompted the development of several hypotheses that attempt to explain the link between autism spectrum and gender spectrum, as well as development of relevant clinical guidelines that contain strong advocacy for adolescents with neurodiversity not to be precluded from gaining access to gender-related services. In the public arena, a highly publicised UK High Court’s case that is commonly referred to as Bell v Tavistock highlighted the growing concerns regarding the unexplained surge in the number of adolescents identifying as having GF, as well as pointed to the lack of evidence that hormones and surgery improve long-term outcomes. The chapter explored the recommendations that came out of this ruling and highlighted the implications for Australian jurisdiction by illustrating medico-legal changes on Perth-based gender services.

scholarly journals Secondary Progressive Multiple Sclerosis: New Insights

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012323
Author(s):  
Bruce Anthony Campbell Cree ◽  
Douglas L Arnold ◽  
Jeremy Chataway ◽  
Tanuja Chitnis ◽  
Robert J. Fox ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Progressive Disease ◽  
Progressive Multiple Sclerosis ◽  
Secondary Progressive Multiple Sclerosis ◽  
Response To Treatment ◽  
Disability Progression ◽  
Long Term Outcomes ◽  
Secondary Progressive ◽  
Relapsing Remitting

In most cases, multiple sclerosis (MS) begins with a relapsing–remitting course followed by insidious disability worsening that is independent from clinically apparent relapses and is termed secondary progressive multiple sclerosis (SMPS). Major differences exist between relapsing–remitting MS (RRMS) and SPMS, especially regarding therapeutic response to treatment. This review provides an overview of the pathology, differentiation, and challenges in the diagnosis and treatment of SPMS. We emphasize the criticality of conversion from a relapsing–remitting to a secondary progressive disease course not only because such conversion is evidence of disability progression, but also because, until recently, treatments that effectively reduced disability progression in relapsing MS were not proven to be effective in SPMS. Clear clinical, imaging, immunological, or pathological criteria marking the transition from RRMS to SPMS have not yet been established. Early identification of SPMS will require tools which, together with the use of appropriate treatments, may result in better long-term outcomes for the population of patients with SPMS.

scholarly journals Rajaie Cardiomyopathy and Myocarditis Registry: Protocol for an Observational Study

2021 ◽  
Author(s):  
Majid Maleki ◽  
Freidoun Noohi ◽  
Parham Sadeghipour ◽  
Mohammad Mehdi Peighambari ◽  
Ahmad Amin ◽  
...  
Keyword(s):  
Natural History ◽  
Clinical Signs ◽  
Response To Treatment ◽  
Cardiac Resynchronization ◽  
Therapeutic Approaches ◽  
Long Term Outcomes ◽  
Prediction Of Mortality ◽  
Number Of Patients

Most of the information on the natural history and management of cardiomyopathies and myocarditis in Iran has been obtained from cohort studies in a small number of patients. The prevalence of patients with cardiomyopathies referred to Rajaei Cardiovascular medical and research centers from all over the country is remarkable. Rajaie Cardiomyopathy and myocarditis Registry (RCMR) study is an observational registry of patients with four subtype of cardiomyopathy include: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM) as well as myocarditis designed to determine clinical characteristics, natural history, current therapeutic approaches, response to treatment and long-term outcomes of patients with cardiomyopathy and myocarditis. Prediction of mortality and response to different treatments in these patients using artificial intelligence is another aim of this Registry. COVID 19 Myocarditis and its sequence as cardiomyopathy seem a new challenge in forthcoming years. At the baseline visit, past medical history, clinical signs/symptoms, risk factors, physical examination and family history of cardiomyopathy, current standards for diagnostic workup and clinical follow-up, and relevant electrocardiogram echocardiography, cardiac magnetic resonance, Holter monitoring, or biomarker analyses will be checked. The outcome and results of various therapeutic approaches currently employed for patients, including implantable cardioverter defibrillator, cardiac resynchronization therapy, septal myomectomy, ablation, cardiac transplantation, and medications, will be assessed. Long-term outcomes, including the benefits and complications of therapeutic interventions, will be collected. A follow-up visit will be scheduled after 12 months for all patients, and survival status, hospitalizations, co-morbidities, medications will be assessed.

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