Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI

Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo devastating and irreversible skeletal alterations andmultisystemic failure as from early childhood due to reduced Arylsulfatse B(ARSB) enzyme activity.Reaching a final diagnosis is not always a short cut path, but rather a yearslongbattle against uncertainty and unnecessary medical interventions. Ouraim is to contribute from the bench table with different approaches that couldserve as alternatives to pre-existing assays for screening and diagnosing MPSVI and other LSD.The present work is based on our research article authored by Franco etal.1 where we studied the effect of blood-derived hemoglobin, and other bloodcomponents, on the fluorescence of 4-Methylumbelliferone when measuringARSB enzyme activity from dried blood spot (DBS) samples.Our experience indicates that to date there are plenty of differentapproaches for measuring ARSB enzyme activity, although the sample typerequired or the assay in itself often make them more adaptable for either highthroughput screening or small scale diagnostics.As a whole, the fluorometric determinations seem to be the mostaccessible to low budget laboratories with equally valuable performancesas a sophisticated mass spectrometry analysis for this disease. Furthermore,the DBS serves as an attractive sample type for screening the disease in largepopulations.Fil: Franco, Paula Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; ArgentinaFil: Adamo, Ana María. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; ArgentinaFil: Mathieu, Patricia Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; ArgentinaFil: Perez, Maria Julia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; ArgentinaFil: Setton, Clara Patricia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; ArgentinaFil: Silvestroff, Lucas. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Físico-Química Biológicas ; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Quimica Biologica. Cátedra de Química Biológica Patológica; Argentin

Use of the term 'learning disabilities' in the United Kingdom: issues for international researchers and practitioners

This paper presents a background as to use of the term “learning disabilities” that is widely used in the United Kingdom (UK). The paper also briefly explores how this usage may differ from that of other countries. To contextualize its use, a brief history of learning disabilities in the UK is outlined alongside diagnostic criteria, and epidemiological and etiological aspects of learning disabilities. These are relevant both to the UK and for international comparison. Finally, the practice of diagnosing and assessing learning disabilities in children and adolescents is briefly explored, as well as identifying the health and social care professionals who most commonly provide specialist support to people with learning disabilities in a range of educational, social, and health care settings in the UK. In particular distinction is made between the terms “learning disabilities” and “learning difficulties” – a source of continuing and common confusion amongst researchers, clinicians, and educators from countries outside of the UK. The paper concludes that non-UK international researchers, clinicians, and educators need to be cognizant of the importance of ensuring that the terminology they use is clearly understood. This is particularly relevant within the context of an ever-growing exchange of international ideas, research, and practice concerning people with learning disabilities

A Model for an Intelligent Support Decision System in Aquaculture

The paper purpose an intelligent software system agents–based to support decision in aquculture and the approach of fish diagnosis with informatics methods, techniques and solutions. A major purpose is to develop new methods and techniques for quick fish diagnosis, treatment and prophyilaxis at infectious and parasite-based known disorders, that may occur at fishes raised in high density in intensive raising systems. But, the goal of this paper is to presents a model of an intelligent agents-based diagnosis method will be developed for a support decision system.support decision system, diagnosis, multi-agent system, fish diseases

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics.

Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies, causing altered levels of compounds associated with these pathways. While IEMs may present with multiple overlapping symptoms and metabolites, early and accurate diagnosis of IEMs is critical for the long-term health of affected subjects. The prevalence of IEMs differs between countries, likely because different IEM classifications and IEM screening methods are used. Currently, newborn screening programs exclusively use targeted metabolic assays that focus on limited panels of compounds for selected IEM diseases. Such targeted approaches face the problem of false negative and false positive diagnoses that could be overcome if metabolic screening adopted analyses of a broader range of analytes. Hence, we here review the prospects of using untargeted metabolomics for IEM screening. Untargeted metabolomics and lipidomics do not rely on predefined target lists and can detect as many metabolites as possible in a sample, allowing to screen for many metabolic pathways simultaneously. Examples are given for nontargeted analyses of IEMs, and prospects and limitations of different metabolomics methods are discussed. We conclude that dedicated studies are needed to compare accuracy and robustness of targeted and untargeted methods with respect to widening the scope of IEM diagnostics

Assessment and diagnosis of Developmental Language Disorder: The experiences of speech and language therapists

© The Author(s) 2019. This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).Background: For many years research and practice have noted the impact of the heterogeneous nature of Developmental Language Disorder (also known as language impairment or specific language impairment) on diagnosis and assessment. Recent research suggests the disorder is not restricted to the language domain and against this background, the challenge for the practitioner is to provide accurate assessment and effective therapy. The language practitioner aims to support the child and their carers to achieve the best outcomes. However, little is known about the experiences of the language practitioner in the assessment process, in contrast to other childhood disorders, yet their expertise is central in the assessment and diagnosis of children with language disorder. Aims: This study aimed to provide a detailed qualitative description of the experiences of speech and language therapists involved in the assessment and diagnosis of children with Developmental Language Disorder. Methods & Procedures: The qualitative study included three focus groups to provide a credible and rich description of the experiences of speech and language therapists involved in the assessment of Developmental Language Disorder. The speech and language therapists who participated in the study were recruited from three NHS Trusts across the UK and all were directly involved in the assessment and diagnosis procedures. The lengths of practitioner experience ranged from 2 years to 38 years. The data was analysed using a thematic analysis in accordance with the principles set out by Braun & Clarke (2006). Outcomes & Results: The data showed a number of key themes concerning the experiences of speech and language therapists in assessing children with Developmental Language Disorder (DLD). These themes ranged from the participants’ experiences of the barriers to early referral, challenges for assessment and the concerns over continued future support. Conclusions & Implications: This study provides first-hand evidence from speech and language therapists in the assessment of children with Developmental Language Disorder, drawing together experiences from language practitioners from different regions. The findings provide insight to the barriers to referral, the potential variations in the assessment process, the role of practitioner expertise and the challenges faced them. The importance of early intervention, useful assessment tools and future support were expressed. Taken together, the results relate to some issues to be addressed on a practical level and a continuing need for initiatives to raise awareness of DLD in the public domain.Peer reviewe

A survey on utilization of data mining approaches for dermatological (skin) diseases prediction

Due to recent technology advances, large volumes of medical data is obtained. These data contain valuable information. Therefore data mining techniques can be used to extract useful patterns. This paper is intended to introduce data mining and its various techniques and a survey of the available literature on medical data mining. We emphasize mainly on the application of data mining on skin diseases. A categorization has been provided based on the different data mining techniques. The utility of the various data mining methodologies is highlighted. Generally association mining is suitable for extracting rules. It has been used especially in cancer diagnosis. Classification is a robust method in medical mining. In this paper, we have summarized the different uses of classification in dermatology. It is one of the most important methods for diagnosis of erythemato-squamous diseases. There are different methods like Neural Networks, Genetic Algorithms and fuzzy classifiaction in this topic. Clustering is a useful method in medical images mining. The purpose of clustering techniques is to find a structure for the given data by finding similarities between data according to data characteristics. Clustering has some applications in dermatology. Besides introducing different mining methods, we have investigated some challenges which exist in mining skin data

Reflections on diagnosing autism spectrum disorders

Personal reflections on the issue of labelling children as being on the autism spectrum

Managing Madness: The ethics of identifying and treating mental illness

This essay analyzes different contemporary models for defining mental illness and offers a new framework that promotes the use of normative values during the clinical diagnostic process. Although ethic centric models for identifying mental illness do currently exist, these accounts are limited. Specifically, these accounts acknowledge the relationship between mental illness labels and implied responsibility in making their argument to support a normative framework, yet do not explain what capacities are necessary for an agent to have full responsibility. Recognizing this shortcoming, this paper provides an enriched model for identifying mental illness by marrying a normative conception of psychiatric dysfunction to a differential model for assigning moral responsibility. To end this paper looks at how this model may be applied in clinical practice by working through a specific case study of Alcohol Dependence Disorder. Ultimately, I conclude that a normative conception of mental illness married to an account of responsibility is a more appropriate and comprehensive model for recognizing and treating psychiatric dysfunction in clinical practice. By carefully balancing normative and pragmatic considerations, physicians can create more effective and just therapeutic regimens that are tailored to individual patients’ circumstances and needs