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Article
Open AccessCost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
With the development of next generation sequencing technologies in France, exome sequencing (ES) has recently emerged as an opportunity to improve the diagnosis rate of patients presenting an intellectual disa...
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Chapter and Conference Paper
An Informal Carer Hub to Support Carers Looking After COPD Patients in the UK and Netherlands
In the UK, about 3 million people live with Chronic Obstructive Pulmonary Disease (COPD). Informal carers such as family and friends play a vital role in promoting well-being among older adults suffering from ...
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Article
Beyond Streptococcus mutans: clinical implications of the evolving dental caries aetiological paradigms and its associated microbiome
Provides an update on the current understanding of the aetiological paradigms of the dental caries process.
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Chapter and Conference Paper
Validity of Smartphone Accelerometers for Assessing Energy Expenditure during Fast Running
Recent advances in smartphone technology have facilitated the generation of mobile applications to monitor exercise performance. The aim of the present study was to investigate the validity and reliability of ...
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Chapter and Conference Paper
Smart Social Robotics for 4G-Health Applications
The concept of 4G health was recently introduced and defined as ‘The evolution of m-health towards targeted personalized medical systems with adaptable functionalities and compatibility with the future 4G network...
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Chapter and Conference Paper
A Study on Perception of Managing Diabetes Mellitus through Social Networking in the Kingdom of Saudi Arabia
The Kingdom of Saudi Arabia (KSA) has the seventh highest prevalence of diabetes in the world with estimates of 20% of the populations diagnosed with diabetes. Furthermore, there is a lack of good educational ...
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Chapter and Conference Paper
Medical Quality of Service Analysis of Ultrasound Video Streaming over LTE Networks
It is well known that 4G systems aim to provide such high speed, high capacity, and IP based personalized services for nomadic and mobile wireless environment. From the mobile health perspective, there are som...
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Article
French Professionals in Genetic Counselor Careers
The profession of genetic counseling in France was recognized in 2004, based on the recommendations of a mandate commissioned by the Health Minister to explore the medical demographics of France. The report pr...
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Chapter
Non-telephone Healthcare: The Role of 4G and Emerging Mobile Systems for Future m-Health Systems
The next generation of “m-health technologies” is a new and evolving topic in the areas of telemedical and telecare systems. These technologies involve the exploitation of mobile telecommunication and multimed...
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Article
Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
Bardet–Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field of ciliopathies, is characterized by pleiotropic clinical features and extensive genetic heterogeneity. To date, 14 BBS genes ha...
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Article
Kelley–Seegmiller syndrome due to a new variant of the hypoxanthine–guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille)
Summary: A patient with hyperuricaemia and gouty arthritis due to a new variant of hypoxanthine–guanine phosphoribosyltransferase is described. The mutation (I136T, HPRT Marseille) is in the phos...
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Article
Value of fetal skeletal radiographs in the diagnosis of fetal death
The aim of this study was to assess the value of fetal skeletal radiographs in determining the etiology of fetal death. A total of 1193 post-mortem fetal skeletal radiographs were analysed. Fetuses were class...
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Article
The mutation P392L of the sequestosome 1 gene in Paget's disease of bone is frequent in the French population
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Article
Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin?
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Article
Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma
Costello syndrome was first described in 1971. Besides papillomata, which were part of the initial description, patients tends to develop benign tumours of ectodermal origin. Aetiology is yet unknown but it i...
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Article
Clinical and molecular study of DiGeorge sequence
DiGeorge sequence (DGS) is a developmental field defect of the third and fourth pharyngeal pouches. The cardinal features of the syndrome are hypo- or aplasia of the thymus and parathyroids, congenital heart d...
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Article
The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients
The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. [19] and Kuroki et al. [15] in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalie...
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Article
Physical map** of an Xq-proximal interstitial duplication in a male
A viable duplication in the proximal long arm of the X chromosome in a boy with a malformative syndrome was delineated with molecular biology techniques using 14 probes from the X cen-Xq21 region. This analysi...
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Article
Epidemiological study of congenital diaphragmatic defects with special reference to aetiology
Congenital diaphragmatic defects (CDD) are easily accessible to ultrasonographic diagnosis. In spite of progress in the management of prenatally detected cases, the mortality rate for CDD remains high. The pro...
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Article
Study of a family with a fragile site of the X chromosome at Xq27–28 without mental retardation
The fragile site Xq27–28 was observed in several individuals of a large family. It is expressed at a high frequency among the carrier females, even as adults, and in one clinically normal male. None of the mem...
