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Radiographic and Tomographic Study of the Cranial Bones in Children with the Idiopathic Type of West Syndrome.
Pediatr Rep
May 2024
Pediatric Department, Orthopedic Hospital of Speising, 1130 Vienna, Austria.
Background: Neither radiological phenotypic characteristics nor reconstruction CT scan has been used to study the early anatomical disruption of the cranial bone in children with the so-called idiopathic type of West syndrome.
Material And Methods: The basic diagnostic measures and the classical antiepileptic treatments were applied to these children in accordance with the conventional protocol of investigations and treatment for children with West syndrome. Boys from three unrelated families were given the diagnosis of the idiopathic type of West syndrome, aged 7, 10 and 12 years old.
A Novel Distal 22Q11.21 Microduplication in a 43-Year-Old Male Patient with Mild Intellectual Disability, Social Cognitive Dysfunctions, and Anxiety.
Clin Neuropsychiatry
October 2023
Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
Objective: The chromosome region 22q11.2 is highly susceptible to genomic rearrangements. It has become clear that genomic instability extends distally to the commonly deleted/duplicated region (Low Copy Repeats [LCR] A-D) and that a clear difference exists between the phenotypic presentation of patients with rearrangements in the common region versus that in the distal region (LCR D-H), particularly with respect to developmental and somatic issues.
View Article and Find Full Text PDFPost-trial access to investigational drugs in India: addressing challenges in the regulatory framework.
Med Law Rev
February 2024
Rajiv Gandhi School of Intellectual Property Law, Indian Institute of Technology Kharagpur, Kharagpur, India.
Through the New Drugs and Clinical Trials Rules, 2019 (2019 Rules), India has developed the rules governing post-trial access (PTA) to new drugs or investigational new drugs. However, inconsistencies and interpretational challenges exist in the application of the 2019 Rules and the Indian Council of Medical Research Guidelines 2017. This conflation poses a real harm to the trial participants, specifically the ones with limited access to healthcare facilities.
View Article and Find Full Text PDFFiguring the 'cynical scientist' in British animal science: the politics of invisibility.
Biosocieties
September 2023
Sociology Department, London School of Economics and Political Science, London, UK.
This paper investigates the 'cynical scientist' as a figure in British animal science discourse that developed in relation to the nineteenth-century emergence of the 'sceptical scientist'. Here, efforts by scientists to demarcate their profession's territory led to religious backlash against an alleged 'divorce' of British science from Christian morality. Animal experimentation became embroiled in this controversy through antivivisectionists' conviction that animal research was symptomatic of scientific scepticism and Continental atheism's malign influence.
View Article and Find Full Text PDFA rigorous genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.
Front Mol Neurosci
October 2022
Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
Genome-wide chromosomal microarray is extensively used to detect copy number variations (CNVs), which can diagnose microdeletion and microduplication syndromes. These small unbalanced chromosomal structural rearrangements ranging from 1 kb to 10 Mb comprise up to 15% of human mutations leading to monogenic or contiguous genomic disorders. Albeit rare, CNVs at 1p13.
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