scholarly journals Complex dystonias: an update on diagnosis and care

2020 ◽  
Author(s):  
Rebecca Herzog ◽  
Anne Weissbach ◽  
Tobias Bäumer ◽  
Alexander Münchau
Keyword(s):  
Movement Disorders ◽  
Current Knowledge ◽  
Specific Treatment ◽  
Diagnostic Workup ◽  
Disease Course ◽  
Systemic Manifestation ◽  
Recent Developments ◽  
Systemic Manifestations ◽  
Cardinal Sign ◽  
Disease Specific

AbstractComplex dystonias are defined as dystonias that are accompanied by neurologic or systemic manifestations beyond movement disorders. Many syndromes or diseases can present with complex dystonia, either as the cardinal sign or as part of a multi-systemic manifestation. Complex dystonia often gradually develops in the disease course, but can also be present from the outset. If available, the diagnostic workup, disease-specific treatment, and management of patients with complex dystonias require a multi-disciplinary approach. This article summarizes current knowledge on complex dystonias with a particular view of recent developments with respect to advances in diagnosis and management, including causative treatments.

Niemann-Pick Type C Disease - Report on Results from the Niemann-Pick Type C Patient and Healthcare Professional Survey

2011 ◽  
Vol 6 (1) ◽  
pp. 12
Author(s):  
Hans H Klünemann ◽  
J Edmond Wraith ◽  
Frits A Wijburg ◽  
◽  
◽  
...  
Keyword(s):  
Healthcare Professional ◽  
Specific Treatment ◽  
The Body ◽  
Neurological Symptoms ◽  
Diagnostic Process ◽  
Abnormal Accumulation ◽  
Recent Developments ◽  
Type C ◽  
Niemann Pick ◽  
Disease Specific

Niemann-Pick type C disease (NPC) is a rare and progressive genetic condition that is associated with an abnormal accumulation of lysosomal lipids in the body, which manifests as a variety of neurological symptoms that range greatly in severity. Management focuses largely on treating symptoms, but recent developments have led to disease-specific therapy that can slow or stabilise the progression of neurological symptoms in some patients. The Niemann-Pick type C Patient and Healthcare Professional Survey conducted interviews with parents and carers of patients with NPC and with healthcare professionals to identify areas of NPC diagnosis, management and support that need improvement. Specifically, an emphasis was placed on increased awareness of the disease and disease symptoms with enhanced communication between doctors, their colleagues and parents of patients in order to facilitate the diagnostic process and the hope for earlier diagnoses, thereby enabling access to disease-specific treatment. The survey identified a need among families of patients with NPC for more support from doctors in the provision of information about the disease and about locally based social and psychological support, and for support from healthcare organisations that should coordinate all the available services. Such co-ordination could ensure that consistent support is provided for all aspects of patient care and for patients’ families and carers.

scholarly journals The Therapeutic Effect of Extracellular Vesicles on Asthma in Pre-Clinical Models: A Systematic Review Protocol

2021 ◽  
Vol 1 (1) ◽  
pp. 84-95
Author(s):  
Patience O. Obi ◽  
Jennifer E. Kent ◽  
Maya M. Jeyaraman ◽  
Nicole Askin ◽  
Taiana M. Pierdoná ◽  
...  
Keyword(s):  
Systematic Review ◽  
Extracellular Vesicles ◽  
Current Knowledge ◽  
Grey Literature ◽  
Specific Treatment ◽  
Therapeutic Effects ◽  
Management Options ◽  
Paracrine Signalling

Asthma is the most common pediatric disease, characterized by chronic airway inflammation and airway hyperresponsiveness. There are several management options for asthma, but no specific treatment. Extracellular vesicles (EVs) are powerful cellular mediators of endocrine, autocrine and paracrine signalling, and can modulate biophysiological function in vitro and in vivo. A thorough investigation of therapeutic effects of EVs in asthma has not been conducted. Therefore, this systematic review is designed to synthesize recent literature on the therapeutic effects of EVs on physiological and biological outcomes of asthma in pre-clinical studies. An electronic search of Web of Science, EMBASE, MEDLINE, and Scopus will be conducted on manuscripts published in the last five years that adhere to standardized guidelines for EV research. Grey literature will also be included. Two reviewers will independently screen the selected studies for title and abstract, and full text based on the eligibility criteria. Data will be extracted, narratively synthesized and reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. This systematic review will summarize the current knowledge from preclinical studies investigating the therapeutic effects of EVs on asthma. The results will delineate whether EVs can mitigate biological hallmarks of asthma, and if so, describe the underlying mechanisms involved in the process. This insight is crucial for identifying key pathways that can be targeted to alleviate the burden of asthma. The data will also reveal the origin, dosage and biophysical characteristics of beneficial EVs. Overall, our results will provide a scaffold for future intervention and translational studies on asthma treatment.

Ribosomally synthesized peptides, foreground players in microbial interactions: recent developments and unanswered questions

2021 ◽  
Author(s):  
Sylvie Rebuffat
Keyword(s):  
Current Knowledge ◽  
Complex Interaction ◽  
Microbial Interactions ◽  
Interaction Networks ◽  
Recent Developments

This review unveils current knowledge on the complex interaction networks involving ribosomally synthesized peptides, either modified or not, being at play in microbial interactions and symbioses.

scholarly journals T regulatory cells in childhood arthritis – novel insights

2013 ◽  
Vol 15 ◽  
Author(s):  
Anne M. Pesenacker ◽  
Lucy R. Wedderburn
Keyword(s):  
T Cells ◽  
Juvenile Idiopathic Arthritis ◽  
Regulatory T Cells ◽  
T Regulatory Cells ◽  
Current Knowledge ◽  
Autoimmune Arthritis ◽  
Regulatory Cells ◽  
New Developments ◽  
Childhood Arthritis ◽  
Recent Developments

In recent years, there have been many new developments in the field of regulatory T cells (Treg), challenging the consensus on their behaviour, classification and role(s) in disease. The role Treg might play in autoimmune disease appears to be more complex than previously thought. Here, we discuss the current knowledge of regulatory T cells through animal and human research and illustrate the recent developments in childhood autoimmune arthritis (juvenile idiopathic arthritis (JIA)). Furthermore, this review summarises our understanding of the fields and assesses current and future implications for Treg in the treatment of JIA.

scholarly journals Brain Tumor Presenting with Parkinsonism

2021 ◽  
pp. 595-597
Author(s):  
Christian Saleh ◽  
Nino Akhalbedashvili ◽  
Margret Hund-Georgiadis
Keyword(s):  
Brain Tumor ◽  
Brain Tumors ◽  
Frontal Lobe ◽  
Female Patient ◽  
Movement Disorders ◽  
Clinical Findings ◽  
Diagnostic Workup ◽  
Proper Treatment ◽  
Left Hand ◽  
The Right

Movement disorders caused by brain tumors are rare. The diagnosis of idiopathic Parkinson’s disease (PD) is based foremost on clinical findings. However, not performing imaging already within the initial diagnostic workup in patients presenting with symptoms of PD can delay or miss a serious diagnosis and consequently proper treatment. We describe and discuss a 59-year-old female patient who presented for several months of increasing tremor in her left hand, which was caused by a large meningioma located in the right frontal area, pressing on the right frontal lobe and nucleus lenticularis.

scholarly journals Pulmonary alveolar microlithiasis: no longer in the stone age

2020 ◽  
Vol 6 (3) ◽  
pp. 00289-2020
Author(s):  
Elisabeth Bendstrup ◽  
Åsa Lina M. Jönsson
Keyword(s):  
Autosomal Recessive ◽  
Specific Treatment ◽  
Hereditary Disease ◽  
Radiographic Findings ◽  
Pulmonary Alveolar Microlithiasis ◽  
The World ◽  
Alveolar Microlithiasis ◽  
Parenchymal Lung Disease ◽  
Disease Specific ◽  
Parenchymal Lung

Pulmonary alveolar microlithiasis (PAM) is a rare parenchymal lung disease caused by variants in the SCL34A2 gene and characterised by the accumulation of intra-alveolar microliths. PAM has been reported in fewer than 1100 cases throughout the world. It is an autosomal recessive hereditary disease and often associated with consanguinity. Progress with respect to the genetic background and pathophysiology has resulted in an increased understanding of the disease in recent years. Until now, 30 genetic different SLC34A2 variants have been reported, which all are considered significant for disease development. There is no sex difference and the majority of cases are diagnosed at the age of 30–40 years. Many patients are asymptomatic and the diagnosis is made at random. When symptomatic, dyspnoea, cough, chest pain and fatigue are common complaints. The diagnosis of PAM can confidently be based on typical radiographic findings and genetic testing proving rare biallelic SCL34A2 gene variants. Bronchoalveolar lavage and histopathology may show microliths. There is no disease-specific treatment and management is supportive. Lung transplantation should be considered in advanced cases.

The Salivary miRNome: A Promising Biomarker of Disease

MicroRNA ◽  
2021 ◽  
Vol 10 ◽  
Author(s):  
Sara Tomei ◽  
Harshitha Shobha Manjunath ◽  
Selvasankar Murugesan ◽  
Souhaila Al Khodor
Keyword(s):  
Current Knowledge ◽  
Transcriptional Level ◽  
Biological Processes ◽  
Circulating Mirnas ◽  
Disease Pathogenesis ◽  
Technical Aspects ◽  
Recent Developments ◽  
Health And Disease ◽  
Non Coding Rnas

: MicroRNAs (miRNAs) are non-coding RNAs ranging from 18-24 nucleotides also known to regulate the human genome mainly at the post-transcriptional level. MiRNAs were shown to play an important role in most biological processes such as apoptosis and in the pathogenesis of many diseases such as cardiovascular diseases and cancer. Recent developments of advanced molecular high-throughput technologies have enhanced our knowledge of miRNAs. MiRNAs can now be discovered, interrogated, and quantified in various body fluids, and hence can serve as diagnostic and therapeutic markers for many diseases. While most studies use blood as a sample source to measure circulating miRNAs as possible biomarkers for disease pathogenesis, fewer studies have assessed the role of salivary miRNAs in health and disease. This review aims at providing an overview of the current knowledge of the salivary miRNome, addressing the technical aspects of saliva sampling and highlighting the applicability of miRNA screening to clinical practice.

Cloud Crime and Fraud

2019 ◽  
pp. 1159-1175
Author(s):  
Nimisha Singh
Keyword(s):  
Cloud Computing ◽  
Law Enforcement ◽  
Current Knowledge ◽  
Organizational Level ◽  
Law Enforcement Agencies ◽  
Policy Makers ◽  
Security Breaches ◽  
Recent Developments ◽  
Standards And Guidelines ◽  
Developed Nations

Changing trends in IT industry are opening new avenues. With the scalability, flexibility, and economic advantage offered by cloud computing, more and more organizations are moving towards cloud for their applications. With all the benefits of cloud computing, it poses a danger of digital crime and security breaches. These challenges are compounded by the fact that cybercrime and the transgressors transcend geographical boundaries while the law enforcement does not. This paper tries to focus on how cloud computing is rising to the challenges thrown in from cyber space and recent developments to avoid and mitigate cloud fraud and abuse. Taking counter measures at organizational level, will alleviate and up to an extent eliminate security breaches. With current knowledge on policy and standards adopted by developed nations, the policy makers and law enforcement agencies in developing countries can work towards formulating standards and guidelines for awareness on threats, vulnerabilities and effectiveness of security controls to respond to risk.

Cloud Crime and Fraud

2018 ◽  
pp. 1334-1350
Author(s):  
Nimisha Singh
Keyword(s):  
Cloud Computing ◽  
Law Enforcement ◽  
Current Knowledge ◽  
Organizational Level ◽  
Law Enforcement Agencies ◽  
Policy Makers ◽  
Security Breaches ◽  
Recent Developments ◽  
Standards And Guidelines ◽  
Developed Nations

Changing trends in IT industry are opening new avenues. With the scalability, flexibility, and economic advantage offered by cloud computing, more and more organizations are moving towards cloud for their applications. With all the benefits of cloud computing, it poses a danger of digital crime and security breaches. These challenges are compounded by the fact that cybercrime and the transgressors transcend geographical boundaries while the law enforcement does not. This paper tries to focus on how cloud computing is rising to the challenges thrown in from cyber space and recent developments to avoid and mitigate cloud fraud and abuse. Taking counter measures at organizational level, will alleviate and up to an extent eliminate security breaches. With current knowledge on policy and standards adopted by developed nations, the policy makers and law enforcement agencies in developing countries can work towards formulating standards and guidelines for awareness on threats, vulnerabilities and effectiveness of security controls to respond to risk.

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