1,721,188 research outputs found
Genotypes and phenotypes of Joubert syndrome and related disorders
No full textJoubert syndrome is an autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. The neuroradiological hallmark of JS is a complex midbrain-hindbrain malformation known as the "molar tooth sign" (MTS), originating from the association of cerebellar vermis hypo-/aplasia, horizontally-oriented and thickened superior cerebellar peduncles and a deepened interpeduncular fossa. A group of pleiotropic conditions, termed "Joubert syndrome related disorders" (JSRDs), present the pathognomonic clinical and neuroradiological features of JS associated with the variable involvement of other organs and systems, mainly the eyes and kidneys. Genetic heterogeneity mirrors the clinical heterogeneity of JSRDs, with several genes identified over the last few years. By reviewing all molecular screenings of JSRD patients published so far and evaluating genotype-phenotype correlates, we propose an algorithm for molecular diagnosis of these conditions. We also discuss the emerging clinical and genetic overlap between JSRDs and a growing number of distinct syndromes that share a common pathogenetic mechanism that is the loss of normal function of the primary cilium and its apparatus. (c) 2007 Elsevier Masson SAS. All rights reserved
Genetic testing for paediatric neurological disorders
No full textPaediatric neurological disorders encompass a large group of clinically heterogeneous diseases, of which some are known to have a genetic cause. Over the past few years, advances in nosological classifications and in strategies for molecular testing have substantially improved the diagnosis, genetic counselling, and clinical management of many patients, and have facilitated the possibility of prenatal diagnoses for future pregnancies. However, the increasing availability of genetic tests for paediatric neurological disorders is raising important questions with regard to the appropriateness, choice of protocols, interpretation of results, and ethical and social concerns of these services. In this Review, we discuss these topics and how these concerns affect genetic counselling
Genetic encoding of the International Classification of Diseases and the burden of Genetic Disorders [Poster walk]
No full textBackground
Genetic diseases are an important cause of infant mortality and
morbidity and have a high impact on social-health system.
About 50-70% of pediatric patients suffer from genetic
disorders or diseases with a significant genetic component.
At the time, the key role of genetics in understanding the
biological basis of the disease has been well defined but its real
impact remains to be defined. The aim of this study is to assess
the impact of genetic disorders through the ‘‘genetic encoding’’
of the International Classification of Diseases-9th Revision
(ICD9), currently used in Italy, in order to understand the
implications for the healthcare system.
Methods
This study included the following activities: ‘‘Genetic’’
classification of the diseases according to scientific literature;
‘‘Genetic encoding’’ of disorders present in ICD9 using as
resource the Online Mendelian Inheritance in Man (OMIM);
Selection of ICD9 codes relevant for the study. Results
The analysis of literature resulted in a ‘‘genetic’’ classification
of 8 classes of diseases: Chromosomal anomalies, Monogenic
disorders, Congenital Malformations, Mitochondrial diseases,
Genomics diseases, Somatic cell genetic diseases, Multifactorial
Disorders, Probably genetic disorders. According to the
‘‘genetic encoding’’ of the ICD9 about 29% of ICD-codes is
‘‘genetic’’. The most represented classes are: Multifactorial
Disorders (37,9%), Somatic cell genetic diseases (30,6%),
Congenital Malformations (14%) and Monogenic disorders
(10,6%).
Conclusions
Genetic diseases are quite common and costs for
society and for the health system are very high. The ICD9
has some limitations: for example it does not include all
genetic diseases currently known with consequent
possible coding errors by clinicians and incorrect correlation
with Diagnosis Related Groups. These results are of major
interest for public health not only for assessing the burden of
genetic disorders but also for priority setting in resources
allocation
Valutazione del burden delle malattie genetiche in un ospedale pediatrico italiano e impatto sul Servizio Sanitario Nazionale (dati preliminari) [Poster ID 400]
No full textINTRODUZIONE
Le malattie genetiche sono associate ad alta morbilità, mortalità ed elevato impatto socio-sanitario ed economico. Negli ultimi 40 anni, pochi studi hanno indagato la frequenza e l’impatto delle malattie genetiche negli ospedali pediatrici. Questo progetto si propone di valutare, per la prima volta in Italia, il burden delle malattie genetiche e a larga componente genetica, presso un Centro nazionale e internazionale di eccellenza per le cure pediatriche - l’Ospedale Pediatrico Bambino Gesù (OPBG) - al fine di comprenderne le implicazioni per il SSN.
METODI
E’ stato condotto uno studio retrospettivo dei dati di attività ospedaliera, su base annuale (2014) e comprensivo di ricoveri ordinari (RO) e day hospital (DH).
RISULTATI. Oltre il 33% dei RO e l’1,2% dei DH si correla a malattie genetiche o a larga componente genetica. I maggiori volumi di attività ospedaliera si correlano con malformazioni congenite (42,2%), malattie da mutazioni somatiche ossia tumori (18,4%) e malattie multifattoriali (15,5%) (Figura 1). La percentuale dei pazienti extraregione è pari al 43,7%, di cui il 21,7% si sposta dalla propria regione a causa di malformazioni congenite, il 7,6% per malattie mendeliane e il 6% per patologie oncologiche.
CONCLUSIONI
I nostri dati sottolineano che oggi le malattie geneticamente determinate o a larga componente genetica rappresentano uno dei principali bisogni di salute della popolazione. Conoscere il “peso” complessivo delle malattie genetiche è di estremo interesse per la sanità pubblica, in quanto il percorso assistenziale di questi pazienti è molto oneroso per il SSN. In questa fase storica in cui la sostenibilità dei sistemi sanitari appare fortemente compromessa, diventa importante non solo conoscere la numerosità della casistica dei pazienti pediatrici affetti da patologie genetiche, ma anche comprenderne l’impatto sul SSN e garantire ai pazienti una migliore programmazione dei servizi assistenziali di cui hanno bisogno
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Mediterranean diet and health: Food effects on gut microbiota and disease control
No full textThe Mediterranean diet (MD) is considered one of the healthiest dietary models. Many of the characteristic components of the MD have functional features with positive effects on health and wellness. The MD adherence, calculated through various computational scores, can lead to a reduction of the incidence of major diseases (e.g., cancers, metabolic and cardiovascular syndromes, neurodegenerative diseases, type 2 diabetes and allergy). Furthermore, eating habits are the main significant determinants of the microbial multiplicity of the gut, and dietary components influence both microbial populations and their metabolic activities from the early stages of life. For this purpose, we present a study proposal relying on the generation of individual gut microbiota maps from MD-aware children/adolescents. The maps, based on meta-omics approaches, may be considered as new tools, acting as a systems biology-based proof of evidence to evaluate MD effects on gut microbiota homeostasis. Data integration of food metabotypes and gut microbiota "enterotypes" may allow one to interpret MD adherence and its effects on health in a new way, employable for the design of targeted diets and nutraceutical interventions in childcare and clinical management of food-related diseases, whose onset has been significantly shifted early in life. © 2014 by the authors; licensee MDPI, Basel, Switzerland
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