https://medicalresearch.be/index.php/jmg <p>A medical geneticist is a physician who treats hereditary disorders and diagnoses diseases that are caused by genetic defects. Medical geneticists may provide patients with therapeutic interventions and specialized counseling. They also educate patients and their families on their diagnoses and how to cope with their genetic disorder. Medical geneticists conduct cytogenetic, radiologic, and biochemical testing and scientific research in the field.<br /><br />Medical geneticists house several subspecialties within the field, including the following:<br /><br />• Biochemical genetics<br />• Clinical cytogenetics<br />• Clinical genetics<br />• Molecular genetic pathology</p> en-US Journal of Medical Genetics https://medicalresearch.be/index.php/jmg/article/view/46 <p>Thirty per cent of our patients were left-handed. Fifty-eight per cent had a low IQ, and 22 of 56 subjects had psychotic disorders (13 of 22 with schizophrenia). Eighteen patients reported at least one seizure in their lifetime, and ten were diagnosed with epilepsy; among them, seven had genetic generalised epilepsy (GGE), and five of seven showed features suggestive of juvenile myoclonic epilepsy (JME). Video-EEG recordings revealed generalised epileptiform abnormalities in 24 of 56 cases. Besides A total of 34 children with hepatosplenomegaly and low β-glucocerebrosidase activity were enrolled to the study and screened for eight common mutations of β-glucocerebrosidase gene. Molecular analysis was performed either by using the mutation’s site-specific restriction endonucleases.</p> Thomas Clark * Copyright (c) 2022 2022-01-30 2022-01-30 1 01 https://medicalresearch.be/index.php/jmg/article/view/47 <p>The increase of progranulin was further paralleled by an increase of HIF1α and a decrease of ERα towards the inner edge of the DCIS lesions validating the association between progranulin and hypoxia as well as to ERα. These data are in line with Lu et al. showing that overexpression of progranulin in ERα positive MCF7 cells induced estrogen independent proliferation via activation of cyclin D1 as well as tamoxifen resistance¹⁰. Collective data also support that hypoxia is not a solitary and local phenomenon&nbsp;The specific activities of catalase and glutathione peroxidase enzymes were significantly increased in group II compared with group I. The catalase activity of the irradiated parotid salivary gland was significantly reduced in groups III and IV, whereas nonsignificant reduction in glutathione activity was noticed in the parotid salivary gland of the irradiated group.</p> Joshua George* Copyright (c) 2022 2022-02-01 2022-02-01 1 01