Multimodal imaging in a family with Cockayne syndrome with a novel pathogenic mutation in the ERCC8 gene, and significant phenotypic variability

ConclusionThe clinical presentation and genetic studies confirmed a diagnosis of Cockayne syndrome in both sisters caused by compound heterozygous mutations in theERCC8 gene on chromosome 10. Multimodal ocular imaging and systemic findings revealed wide phenotypic variability between the affected siblings.
Source: Documenta Ophthalmologica - Category: Opthalmology Source Type: research

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This study aimed to design arterial ischemic and venous congested areas on the same multi-territory perforator flap, assessing the effects of arterial blood supply and venous return on flap survival. Totally 68 rats were randomly divided into the experimental (Exp) and control (Con) groups. In the Exp group, flaps were based on left superficial epigastric artery and right superficial epigastric vein. In the Con group, flaps were based on the left superficial epigastric artery and vein. Immediate postoperative ink-gelatin angiography, epidermal metabolite levels detection, tissue edema measurement, survival rate evaluation ...
Source: Journal of Plastic Surgery and Hand Surgery - Category: Surgery Tags: J Plast Surg Hand Surg Source Type: research
Authors: Rusch R, Greenman J, Scanlon C, Horne K, Jonas DF Abstract Bibliotherapy is a therapeutic intervention that could potentially be utilized by pediatric palliative care social workers to aid in providing individualized support and adaptive coping techniques through end-of-life and bereavement. Multiple modalities of implementing bibliotherapy are considered, including applications in individual and group counseling. An institutionally supported bibliotherapy program that aims to provide therapeutic and recreational texts for patients, families and clinicians is described. Suggested guidelines and book titles...
Source: Journal of Social Work in End-of-Life and Palliative Care - Category: Palliative Care Tags: J Soc Work End Life Palliat Care Source Type: research
Authors: Lauriello J Abstract Many individuals with schizophrenia experience multiple relapses, which are associated with serious and potentially fatal outcomes. Nonadherence to antipsychotic medications is a major contributor to relapse. By using reliable strategies to measure adherence and identify patients who are not taking their medications as prescribed, clinicians can intervene to possibly prevent relapse or decrease its severity. PMID: 32237296 [PubMed - in process]
Source: Journal of Clinical Psychiatry - Category: Psychiatry Tags: J Clin Psychiatry Source Type: research
Authors: Zhang Y, Wang Q, Reynolds GP, Yue W, Deng W, Yan H, Tan L, Wang C, Yang G, Lu T, Wang L, Zhang F, Yang J, Li K, Lv L, Tan Q, Li Y, Yu H, Zhang H, Ma X, Yang F, Li L, Chen Q, Wei W, Zhao L, Wang H, Li X, Guo W, Hu X, Tian Y, Ren H, Ma X, Coid J, Zhang D, Li T, Chinese Antipsychotics Pharmacogenomics Consortium Abstract OBJECTIVE: To compare longitudinal metabolic effects of 7 antipsychotics, including body mass index (BMI), waist circumference (WC), blood pressure (BP), glucose, triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C); to investigate ...
Source: Journal of Clinical Psychiatry - Category: Psychiatry Tags: J Clin Psychiatry Source Type: research
Conclusions: OCT-A allows us to underline the role of the retinal pigment epithelium in the CHM pathophysiology. Central inner retinal and choriocapillaris vascularization were preserved although the RPE was always involved in the CHM carrier: this could support a secondary role of vascular impairment in the natural history of the disease. PMID: 32233698 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Conclusions: While the ophthalmic community has traditionally viewed glaucoma as the classic ocular anomaly of CMTC, this dataset advocates for the prompt investigation of posterior segment abnormalities as well. However, our understanding of CMTC's ocular anomalies is complicated by a lack of reporting and/or incomplete (or nonexistent) ophthalmic examinations, and we strongly encourage comprehensive ophthalmic examinations for all CMTC patients at the time of diagnosis, followed by appropriate screening and surveillance throughout life. We believe these recommendations will spur additional data and disease insights that ...
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Conclusions: SWS affects approximately 0.19/100,000/year in Olmsted County. Early diagnosis, intervention, lifelong follow-up, and multidisciplinary approach should be used to optimize systemic and ocular outcomes. PMID: 32233696 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Abstract In Brazil, rabies occurs mainly within an urban cycle, in which dogs and bats are reservoirs. This paper aims to report the occurrence of rabies in Callithrix sp. in Niter ói, Rio de Janeiro, Brazil. In June 2019 a hybrid specimen was referred for diagnosis. The Direct Fluorescent Antibody, Mouse Inoculation, and Polymerase Chain Reaction tests were positive. A phylogenetic analysis was compatible with antigenic variant 3, characteristic of Desmodus rotundus. New stu dies should be undertaken to elucidate the real role of callitrichids in the urban rabies cycle.
Source: Revista da Sociedade Brasileira de Medicina Tropical - Category: Tropical Medicine Source Type: research
This study was carried out in accordance with the recommendations of the National Animal Care and Use Committee of the University of Buenos Aires (CICUAL). The protocol was approved by the CICUAL. Mice were kept under a 12-h light/dark cycle, with controlled temperature (23 ± 2°C) and humidity (40–60%) and had ad libitum access to food and water. To produce hTDP-43 transgenic lines, as described previously (Igaz et al., 2011), pronucleus of fertilized eggs from C57BL/6J × C3HeJ F1 matings were injected with a vector containing hTDP-43-WT cDNA. Monogenic tetO-TDP-WT12 mice wer...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
For a period in the mid-1990s, soon after the discovery of the involvement of trinucleotide repeat expansions in fragile-X syndrome (both A and E), Huntington’s disease, myotonic dystrophy, and a number of hereditary ataxias, there was a clear sense that this new disease mechanism might provide answers for psychiatric disorders. Given the then failures to replicate initial genetic linkage findings for schizophrenia (SCZ) and bipolar disorder (BD), a greater emphasis was placed on the role of complex and non-Mendelian mechanisms, and repeat instability appeared to have the potential to provide adequate explanations fo...
Source: Psychiatric Genetics - Category: Genetics & Stem Cells Tags: Review Articles Source Type: research
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