scholarly journals Diagnostic path of a genetic disease: a case of Williams-Beuren syndrome in Burkina Faso

2015 ◽  
Vol 7 (4) ◽  
Author(s):  
Makoura Barro ◽  
Bintou Sanogo ◽  
Aimée S. Kissou ◽  
Ad Bafa Ibrahim Ouattara ◽  
Boubacar Nacro
Keyword(s):  
Mental Retardation ◽  
Burkina Faso ◽  
Clinical Diagnosis ◽  
Clinical Examination ◽  
Health Professionals ◽  
Genetic Disease ◽  
Neurodevelopmental Disorder ◽  
Dysmorphic Feature ◽  
Chromosome Band ◽  
Behavioral Abnormalities

Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by a set of somatic, psychological, and behavioral abnormalities, which is caused by a deletion of several genes. Herein we report a 6 year-old boy, who presented with mental retardation and psychological disorders. The result of the first clinical examination was poor, since it didn’t detect any dysmorphic feature which is a major component for the clinical diagnosis of WBS. Despite the multidisciplinary and the multicenter approaches used, the diagnosis of WBS (deletion of chromosome band 7q11. 23) was established more than 3 years after the first medical consultation. Rare partial forms of WBS have been recently described and they are both clinically and genetically difficult to diagnose. Unfortunately, this disorder is still little known by health professionals.

scholarly journals A hybrid AI approach for supporting clinical diagnosis of attention deficit hyperactivity disorder (ADHD) in adults

2020 ◽  
Vol 9 (1) ◽  
Author(s):  
Ilias Tachmazidis ◽  
Tianhua Chen ◽  
Marios Adamou ◽  
Grigoris Antoniou
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Health Systems ◽  
Clinical Diagnosis ◽  
Attention Deficit ◽  
Neurodevelopmental Disorder ◽  
Hybrid Approach ◽  
Public Health Issue ◽  
Hyperactivity Disorder ◽  
The Past ◽  
Increased Risk

AbstractAttention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder that includes symptoms such as inattentiveness, hyperactivity and impulsiveness. It is considered as an important public health issue and prevalence of, as well as demand for diagnosis, has increased as awareness of the disease grew over the past years. Supply of specialist medical experts has not kept pace with the increasing demand for assessment, both due to financial pressures on health systems and the difficulty to train new experts, resulting in growing waiting lists. Patients are not being treated quickly enough causing problems in other areas of health systems (e.g. increased GP visits, increased risk of self-harm and accidents) and more broadly (e.g. time off work, relationship problems). Advances in AI make it possible to support the clinical diagnosis of ADHD based on the analysis of relevant data. This paper reports on findings related to the mental health services of a specialist Trust within the UK’s National Health Service (NHS). The analysis studied data of adult patients who underwent diagnosis over the past few years, and developed a hybrid approach, consisting of two different models: a machine learning model obtained by training on data of past cases; and a knowledge model capturing the expertise of medical experts through knowledge engineering. The resulting algorithm has an accuracy of 95% on data currently available, and is currently being tested in a clinical environment.

scholarly journals Consensus guidelines on managing Rett syndrome across the lifespan

2020 ◽  
Vol 4 (1) ◽  
pp. e000717
Author(s):  
Cary Fu ◽  
Dallas Armstrong ◽  
Eric Marsh ◽  
David Lieberman ◽  
Kathleen Motil ◽  
...  
Keyword(s):  
Primary Care ◽  
Rett Syndrome ◽  
Health Professionals ◽  
Best Practice ◽  
Neurodevelopmental Disorder ◽  
Primary Care Providers ◽  
Care Providers ◽  
Medical Comorbidities ◽  
Modified Delphi ◽  
Delphi Approach

BackgroundRett syndrome (RTT) is a severe neurodevelopmental disorder with complex medical comorbidities extending beyond the nervous system requiring the attention of health professionals. There is no peer-reviewed, consensus-based therapeutic guidance to care in RTT. The objective was to provide consensus on guidance of best practice for addressing these concerns.MethodsInformed by the literature and using a modified Delphi approach, a consensus process was used to develop guidance for care in RTT by health professionals.ResultsTypical RTT presents early in childhood in a clinically recognisable fashion. Multisystem comorbidities evolve throughout the lifespan requiring coordination of care between primary care and often multiple subspecialty providers. To assist health professionals and families in seeking best practice, a checklist and detailed references for guidance were developed by consensus.ConclusionsThe overall multisystem issues of RTT require primary care providers and other health professionals to manage complex medical comorbidities within the context of the whole individual and family. Given the median life expectancy well into the sixth decade, guidance is provided to health professionals to achieve current best possible outcomes for these special-needs individuals.

Acute Evaluation and Management of Sport-Related Concussion

2014 ◽  
Author(s):  
Steven P. Broglio
Keyword(s):  
Motor Control ◽  
Clinical Diagnosis ◽  
Mental Status ◽  
Clinical Examination ◽  
Systematic Approach ◽  
Clinical Presentation ◽  
Objective Measures ◽  
Medical Practitioners

The acute evaluation and management of concussion are among the most complex and challenging injuries medical practitioners face. The variability in clinical presentation necessitates a systematic approach to the injury evaluation. The evaluation should include a thorough injury history and clinical examination that is supported by objective measures of mental status and motor control. The integration of all information should be used in making the clinical diagnosis.

scholarly journals Comparative Behavioral Phenotypes of Fmr1 KO, Fxr2 Het, and Fmr1 KO/Fxr2 Het Mice

2019 ◽  
Vol 9 (1) ◽  
pp. 13 ◽  
Author(s):  
Rachel Saré ◽  
Christopher Figueroa ◽  
Abigail Lemons ◽  
Inna Loutaev ◽  
Carolyn Beebe Smith
Keyword(s):  
Mental Retardation ◽  
Intellectual Disability ◽  
Fragile X ◽  
Protein Product ◽  
Behavioral Phenotypes ◽  
Memory Impairments ◽  
Fragile X Mental Retardation ◽  
Behavioral Abnormalities ◽  
Mental Retardation Protein ◽  
Functional Consequences

Fragile X syndrome (FXS) is caused by silencing of the FMR1 gene leading to loss of the protein product fragile X mental retardation protein (FMRP). FXS is the most common monogenic cause of intellectual disability. There are two known mammalian paralogs of FMRP, FXR1P, and FXR2P. The functions of FXR1P and FXR2P and their possible roles in producing or modulating the phenotype observed in FXS are yet to be identified. Previous studies have revealed that mice lacking Fxr2 display similar behavioral abnormalities as Fmr1 knockout (KO) mice. In this study, we expand upon the behavioral phenotypes of Fmr1 KO and Fxr2+/− (Het) mice and compare them with Fmr1 KO/Fxr2 Het mice. We find that Fmr1 KO and Fmr1 KO/Fxr2 Het mice are similarly hyperactive compared to WT and Fxr2 Het mice. Fmr1 KO/Fxr2 Het mice have more severe learning and memory impairments than Fmr1 KO mice. Fmr1 KO mice display significantly impaired social behaviors compared to WT mice, which are paradoxically reversed in Fmr1 KO/Fxr2 Het mice. These results highlight the important functional consequences of loss or reduction of FMRP and FXR2P.

scholarly journals Alterations of Amino Acids and Monoamine Metabolism in Male Fmr1 Knockout Mice: A Putative Animal Model of the Human Fragile X Mental Retardation Syndrome

2001 ◽  
Vol 8 (4) ◽  
pp. 285-298 ◽  
Author(s):  
Michael Gruss ◽  
Katharina Braun
Keyword(s):  
Amino Acids ◽  
Animal Model ◽  
Mental Retardation ◽  
Fragile X Syndrome ◽  
Knockout Mice ◽  
Fragile X ◽  
Fragile X Mental Retardation ◽  
Behavioral Abnormalities ◽  
Cortical Regions ◽  
Knockout Animals

The Fragile X syndrome, a common form of mental retardation in humans, is caused by silencing the fragile X mental retardation (FMR1) geneleading to the absence of the encoded fragile X mental retardation protein 1 (FMRP). We describe morphological and behavioral abnormalities for both affected humans and Fmr1 knockout mice, a putative animal model for the human Fragile X syndrome. The aim of the present study was to identify possible neurochemical abnormalities in Fmr1 knockout mice, with particular focus on neurotransmission. Significant region-specific differences: of basal neurotransmitter and metabolite levels were found between wildtype and Fmr1 knockout animals, predominantly in juveniles (post-natal days 28 to 31). Adults (postnatal days 209 to 221) showed only few abnormalities as compared with the wildtype. In juvenile knockout mice, aspartate and taurine were especially increased in cortical regions, striatum, hippocampus, cerebellum, and brainstem. In addition, juveniles showed an altered balance between excitatory and inhibitory amino acids in the caudal cortex, hippocampus, and brainstem. We detected very few differences in monoamine turnover in both age stages. The results presented here provide the first evidence that lack of FMRP expression in FMRP knockout mice is accompanied by age-dependent, region-specific alterations in neurotransmission.

scholarly journals Prevention of mental retardation: What do health professionals and general population know about this issue?

2006 ◽  
Vol 8 (4) ◽  
pp. 263-263
Author(s):  
Ana Maria Silveira Machado de Moraes ◽  
Luis Alberto Magna ◽  
Antônia Paula Marques-de-Faria
Keyword(s):  
Mental Retardation ◽  
General Population ◽  
Health Professionals

scholarly journals The accuracy value of the dentist’s clinical diagnosis in oral lesions performed on biopsy

2013 ◽  
Vol 25 (2) ◽  
Author(s):  
Galih Fata Anadza ◽  
Endang Syamsudin ◽  
Abel Tasman Yuza
Keyword(s):  
General Hospital ◽  
Clinical Diagnosis ◽  
Clinical Examination ◽  
Oral Surgery ◽  
Histopathological Examination ◽  
Maxillofacial Surgery ◽  
Oral And Maxillofacial Surgery ◽  
Histopathological Diagnosis ◽  
Oral Lesions ◽  
The Difference

Introduction: The diagnosis of a pathological disorder can be made in various stages, namely history taking, clinical examination and supporting examination. Clinical diagnosis is a diagnosis obtained from anamnesis and the results of clinical examination. Histopathological diagnosis is a diagnosis obtained from a microscopic examination of tissue. Clinical diagnosis and histopathological examination results may differ. The aim of the study was to obtain the accuracy value of the dentist’s clinical diagnosis by calculating the number of differences between the clinical diagnosis and the results of the histopathological examination of patients who were biopsied in the Department of Oral Surgery of General Hospital Dr. Hasan Sadikin Bandung. Methods: A retrospective descriptive study of cases of pathological abnormalities biopsied in the Department of Oral and Maxillofacial Surgery of General Hospital Dr Hasan Sadikin Bandung. The total number of study samples was 109 medical records of patients with biopsy. Results: The accuracy value of the clinical diagnosis of dentists was 76%, where the difference between the clinical diagnosis and the histopathological examination was 24%. The most common type of disorder with the greatest difference in diagnosis is ameloblastoma followed by papilloma and mucocele. Conclusion: The accuracy value of the clinical diagnosis of dentists in oral lesions performed biopsy is 76%.

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