scholarly journals A Review Article: Categorization, Advancement and Obstacles of Genetic factors and types of Spinal Muscular Degeneration

2021 ◽  
Vol 8 (2) ◽  
pp. 29-37
Author(s):  
Marwa Abbas Abdulrazzak Kubba
Keyword(s):  
Motor Neurons ◽  
Acid Metabolism ◽  
Age Of Onset ◽  
Learning Mechanisms ◽  
The Past ◽  
Spinal Muscular Atrophies ◽  
Genetic Science ◽  
New Treatment ◽  
Lower Brain Stem ◽  
Prevention Methods

SMA (Spinal muscular atrophies) are category of hereditary inflammation in the funiculars and lower brain stem, tissue fatigue, and degeneration characterized by motor neuron failure. The analytic and genetic phenotypes incorporate a diverse continuum distinguished depending on age of onset, tissue participation arrangement, and inheritance arrangement. Rapid advancements in genetic science have expedite the discovery of causative genes over the past few years, and provide significant access in awareness the biochemical and neurological basis of Spinal muscular atrophies and insights into the motor neurons' selective deficiency. Popular path physiological topics include Ribonucleic Acid metabolism and splicing abnormalities, axonal transmission, and motor neurons' advancement and communication. These also collectively revealed possible innovative prevention methods and comprehensive attempts are what benefits does the company offer? Although a range of promising therapeutic therapies for Spinal muscular atrophies is emerging, it is essential to identify therapeutic windows and establish responsive and appropriate biomarkers to promote future analytic trial success. This research offers a description of Spinal muscular atrophies' logical manifestations and genetics. It discusses recent advancements in learning—mechanisms for the pathogenesis of inflammation and new treatment methods.

Non-viral aspects

2018 ◽  
Vol 1 (2) ◽  
pp. 37-39
Author(s):  
Roongruedee Chaiteerakij
Keyword(s):  
Autoimmune Hepatitis ◽  
Liver Diseases ◽  
Sclerosing Cholangitis ◽  
Promising Result ◽  
Primary Biliary Cholangitis ◽  
Second Line Therapy ◽  
Thai Population ◽  
The Past ◽  
Line Therapy ◽  
New Treatment

Autoimmuneliver diseases, particularly autoimmune hepatitis and primary biliary cholangitis,are not uncommon among the Thai population. This article summarizes main findings of studies of autoimmune liver diseases published during the past year, which included natural history and long-termoutcomes of primary biliary cholangitis treatment, a promising result of the new treatment for primary sclerosing cholangitis and outcomes of a second-line therapy of autoimmune hepatitis.

scholarly journals Creating Price Indexes for Measuring Productivity in Mental Health Care

2001 ◽  
Vol 4 (1) ◽  
Author(s):  
Susan H. Busch ◽  
Ernst R. Berndt ◽  
Richard G. Frank
Keyword(s):  
Mental Health ◽  
Health Care ◽  
Major Depression ◽  
Price Index ◽  
Time Varying ◽  
Measurement Issues ◽  
The Past ◽  
Price Indexes ◽  
Treatment Technologies ◽  
New Treatment

Economists have long suggested that to be reliable, a preferred medical care price index should employ time-varying weights to measure outcomes-adjusted changes in the price of treating an episode of illness. In this article, we report on several years of research developing alternative indexes for the treatment of the acute phase of major depression, for the period 1991–1996. The introduction of new treatment technologies in the past two decades suggests well-known measurement issues may be prominent in constructing such a price index.We report on the results of four successively re

scholarly journals Emergency management of the paediatric patient with convulsive status epilepticus

2021 ◽  
Vol 26 (1) ◽  
pp. 50-57
Author(s):  
Kyle C McKenzie ◽  
Cecil D Hahn ◽  
Jeremy N Friedman
Keyword(s):  
Clinical Practice ◽  
Status Epilepticus ◽  
Emergency Management ◽  
Treatment Algorithm ◽  
Position Statement ◽  
Convulsive Status Epilepticus ◽  
Pharmacological Management ◽  
The Past ◽  
New Treatment ◽  
New Evidence

Abstract This guideline addresses the emergency management of convulsive status epilepticus (CSE) in children and infants older than 1 month of age. It replaces a previous position statement from 2011, and includes a new treatment algorithm and table of recommended medications based on new evidence and reflecting the evolution of clinical practice over the past several years. This statement emphasizes the importance of timely pharmacological management of CSE, and includes some guidance for diagnostic approach and supportive care.

scholarly journals Novel Immunotherapeutic Approaches for Neuroblastoma and Malignant Melanoma

2018 ◽  
Vol 2018 ◽  
pp. 1-12 ◽  
Author(s):  
Fabio Morandi ◽  
Francesco Frassoni ◽  
Mirco Ponzoni ◽  
Chiara Brignole
Keyword(s):  
Malignant Melanoma ◽  
Age Of Onset ◽  
Treatment Options ◽  
Treatment Strategies ◽  
Biological Knowledge ◽  
Huge Amount ◽  
High Stage ◽  
New Treatment ◽  
Near Future ◽  
Primary Tissue

Neuroblastoma (NB) and malignant melanoma (MM), tumors of pediatric age and adulthood, respectively, share a common origin, both of them deriving from the neural crest cells. Although NB and MM have a different behavior, in respect to age of onset, primary tissue involvement and metastatic spread, the prognosis for high stage-affected patients is still poor, in spite of aggressive treatment strategies and the huge amount of new discovered biological knowledge. For these reasons researchers are continuously attempting to find out new treatment options, which in a near future could be translated to the clinical practice. In the last two decades, a strong effort has been spent in the field of translational research of immunotherapy which led to satisfactory results. Indeed, several immunotherapeutic clinical trials have been performed and some of them also resulted beneficial. Here, we summarize preclinical studies based on immunotherapeutic approaches applied in models of both NB and MM.

scholarly journals A case of atypical systemic primary carnitine deficiency in Saudi Arabia

2018 ◽  
Vol 10 (2) ◽  
Author(s):  
Abdulrahman Alghamdi ◽  
Hani Almalki ◽  
Aiman Shawli ◽  
Rahaf Waggass ◽  
Fahad Hakami
Keyword(s):  
Dilated Cardiomyopathy ◽  
Autosomal Recessive ◽  
Acid Metabolism ◽  
Age Of Onset ◽  
Carnitine Deficiency ◽  
Proximal Muscle ◽  
Skeletal Myopathy ◽  
Primary Carnitine Deficiency ◽  
Elevated Transaminases ◽  
Work Up

Systemic primary carnitine deficiency (SPCD) is an autosomal recessive inborn error of fatty acid metabolism caused by a defect in the transporter responsible for moving carnitine across plasma membrane. The clinical features of SPCD vary widely based on the age of onset and organs involved. During infancy, patients might show episodes of hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia. Skeletal myopathy, elevated creatine kinase, and cardiomyopathy are the main manifestations in children with SPCD, while in adults, the disorder is usually manifested as cardiomyopathy, arrhythmias, or fatigability. Here, we report a 5-year-old boy with SPCD that presented as dilated cardiomyopathy with atypical features, such as anemia, respiratory distress, and proximal muscle weakness. This report supports considering carnitine deficiency treatment in the work-up of unexplained pediatric dilated cardiomyopathy.

scholarly journals LSD: a new treatment emerging from the past

2015 ◽  
Vol 187 (14) ◽  
pp. 1079-1080 ◽  
Author(s):  
Erika Dyck
Keyword(s):  
The Past ◽  
New Treatment

scholarly journals Cooling e-cigarette flavors and the association with e-cigarette use among a sample of high school students

PLoS ONE ◽  
2021 ◽  
Vol 16 (9) ◽  
pp. e0256844
Author(s):  
Danielle R. Davis ◽  
Meghan E. Morean ◽  
Krysten W. Bold ◽  
Deepa Camenga ◽  
Grace Kong ◽  
...  
Keyword(s):  
High School ◽  
High School Students ◽  
Age Of Onset ◽  
Binary Logistic Regression ◽  
Cigarette Use ◽  
School Students ◽  
Demographic Differences ◽  
The Past ◽  
Sensory Experiences ◽  
Frequency Of Use

Introduction E-liquid flavor is typically presented by flavor category (e.g. menthol, mint, fruit, dessert). Cooling sensations produced by flavor additives such as menthol enhance appeal of e-cigarettes among youth, but not all e-liquids that produce cooling sensations are labeled as menthol. Sensory experiences produced by flavors may allow for a new way to capture e-cigarette flavor use. This study aims to examine use of flavors that produce cooling sensations among youth and its association with e-cigarette use behaviors. Methods A 2019 survey of high school students (n = 4875) examined use of e-cigarette flavors that produced cooling sensations (cooling flavors) among past 30-day e-cigarette users. E-cigarette use behaviors (flavor use, nicotine use, frequency of use) were examined between those who did and did not use cooling flavors. A binary logistic regression was used to examine associations between vaping frequency, nicotine (vs. non-nicotine) use, and vaping cooling flavors while controlling for demographics, number of flavors vaped in the past month, and vaping age of onset. Results 51.6% (n = 473/916) of the analytic sample endorsed vaping cooling flavors. There were no demographic differences by vaping cooling flavors. Vaping cooling flavors was associated with vaping more frequently (AOR:1.04,95% CI:1.03,1.05) and vaping nicotine (AOR:2.37,95% CI:1.53,3.67). Conclusion Vaping cooling flavors was associated with greater nicotine vaping and frequency of e-cigarette use. Assessing sensory experience, such as cooling, in addition to flavor category may more fully capture e-cigarette flavor use and its impacts on youth e-cigarette use behaviors.

scholarly journals A New Classification for Hemorrhoidal Disease: The Creation of the “BPRST” Staging and Its Application in Clinical Practice

2020 ◽  
Vol 36 (4) ◽  
pp. 249-255 ◽  
Author(s):  
Carlos Walter Sobrado Júnior ◽  
Carlos de Almeida Obregon ◽  
Afonso Henrique da Silva e Sousa Júnior ◽  
Lucas Faraco Sobrado ◽  
Sérgio Carlos Nahas ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Strong Association ◽  
Management Strategies ◽  
Hemorrhoidal Disease ◽  
New Classification ◽  
The Past ◽  
Internal Hemorrhoids ◽  
New Treatment ◽  
Treatment Alternatives

Purpose: Present an updated classification for symptomatic hemorrhoids, which not only guides the treatment of internal hemorrhoids but also the treatment of external components. In addition, this new classification includes new treatment alternatives created over the last few years.Methods: Throughout the past 7 years, the authors developed a method to classify patients with symptomatic hemorrhoids. This study, besides presenting this classification proposal, also retrospectively analyzed 149 consecutive patients treated between March 2011 and November 2013 and aimed to evaluate the association between the management adopted with Goligher classification and our proposed BPRST classification.Results: Both classifications had a statistically significant association with the adopted management strategies. However, the BPRST classification tended to have fewer management discrepancies when each stage of disease was individually analyzed.Conclusion: Although there is much disagreement about how the classification of hemorrhoidal disease should be updated, it is accepted that some kind of revision is needed. The BPRST method showed a strong association with the management that should be adopted for each stage of the disease. Further studies are needed for its validation, but the current results are encouraging.

scholarly journals Biological psychiatry: time for new paradigms

2013 ◽  
Vol 202 (3) ◽  
pp. 166-167 ◽  
Author(s):  
David Linden
Keyword(s):  
Biological Treatment ◽  
Biological Psychiatry ◽  
Psychiatric Diseases ◽  
Treatment Principles ◽  
Treatment Targets ◽  
The Past ◽  
Slow Progress ◽  
New Treatment

SummaryBiological psychiatry has not yet produced clinically viable biomarkers for any of the major psychiatric diseases, and the past 25 years have not brought any fundamentally new biological treatment principles. I discuss reasons for this slow progress and suggest avenues for the development of biomarkers and the discovery of new treatment targets.

Hemostatic and thrombotic disorders in the pediatric patient

Blood ◽  
2021 ◽  
Author(s):  
Sarah H. O'Brien ◽  
Ayesha Zia
Keyword(s):  
Venous Thromboembolism ◽  
Prediction Models ◽  
Oral Anticoagulants ◽  
Direct Oral Anticoagulants ◽  
Hospital Setting ◽  
Von Willebrand Disease ◽  
Assessment Tools ◽  
Excessive Bleeding ◽  
The Past ◽  
New Treatment

This review focuses on significant advances in the field of pediatric hemostasis and thrombosis, with a focus on published studies within the past decade. The evaluation and management of patients with excessive bleeding remain a cornerstone of consultative hematology. We will describe the development of validated bleeding assessment tools relevant to pediatric practice, laboratory advances in the evaluation of von Willebrand Disease, and a shift in clinical practice regarding the interpretation of normal coagulation studies in patients with significant bleeding phenotypes. There have also been critical advances in the management of hemostatic disorders. This review highlights new treatment paradigms in hemophilia and the rise of multidisciplinary medical homes for women living with bleeding disorders. Given the continued increase in the incidence of thrombosis, particularly in the hospital setting, a full call to arms against pediatric venous thromboembolism is now essential. This review will describe recently completed clinical trials of direct oral anticoagulants in children and adolescents and ongoing work to elucidate the appropriate duration of therapy for children with provoked thrombosis. Recent work regarding the prevention of pediatric venous thromboembolism is highlighted, including studies of thromboprophylaxis and the development of risk-prediction models for hospital-acquired thrombosis. Finally, we review advances in our understanding of post-thrombotic sequelae and the need for continued refinement of our evaluation tools. Despite the significant advances in pediatric hemostasis and thrombosis over the past decade, many unanswered questions remain for the next generation of investigators.

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