Late onset disease
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The apolipoprotein E (APOE) ε4 allele is the strongest genetic risk factor for late onset Alzheimer’s disease, whilst the ε2 allele confers protection. Previous studies report differential DNA methylation of APOE between ε4 and ε2 carriers, but associations with epigenome-wide methylation have not previously been characterised.
14p vibransone 28-03-2024 3 2 Download
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The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to mild, late-onset, isolated limb-girdle muscular dystrophy without neural involvement.
11p vioraclene 31-03-2024 3 2 Download
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Amyotrophic lateral sclerosis (ALS) is a complex, late-onset, neurodegenerative disease with a genetic contribution to disease liability. Genome-wide association studies (GWAS) have identified ten risk loci to date, including the TNIP1/GPX3 locus on chromosome five.
22p vibransone 28-03-2024 3 1 Download
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Alzheimer’s disease (AD) is characterized by robust microgliosis and phenotypic changes that accompany disease pathogenesis. Accumulating evidence from genetic studies suggests the importance of phospholipase C γ 2 (PLCG2) in late-onset AD (LOAD) pathophysiology. However, the role of PLCG2 in AD is still poorly understood.
13p viellison 28-03-2024 5 2 Download
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Women from Asian and western countries have vastly different ages of onset of breast cancer, with the disease tending to occur at an older age in the West. Through an investigation of the patterns of old-onset breast cancer (OBC) in Korean women, we aimed to identify the characteristics of Korean OBC and evaluate whether these patterns are changing in relation to increasing westernization.
15p vileonardodavinci 23-12-2023 4 3 Download
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This case highlights the importance of identifying relevant past medical history on initial assessment, and having rapid access to radiology and orthopedic support to enable timely diagnosis, as prognosis becomes poorer as age increases. Perthes-like changes should be considered as a differential diagnosis in patients presenting with non-traumatic hip pain, regardless of age of onset.
7p viintuit 26-09-2023 4 0 Download
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Glutaric aciduria type 2 is a rare inborn disease of fatty acid metabolism. The clinical manifestation of this disease is heterogeneous and ranges from severe neonatal forms to mild late-onset forms.
5p viwhitewolf 03-07-2023 4 2 Download
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Lung involvement in inflammatory bowel diseases usually follows colitis. However, the time to lung involvement onset varies depending on the case, and pulmonary lesions are usually not parallel to exacerbations of the colitis.
6p vigamora 23-05-2023 4 2 Download
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Myofibrillar myopathy in humans causes protein aggregation, degeneration, and weakness of skeletal muscle. In horses, myofibrillar myopathy is a late-onset disease of unknown origin characterized by poor performance, atrophy, myofibrillar disarray, and desmin aggregation in skeletal muscle.
20p vilichoo2711 23-06-2021 5 1 Download
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Camptocormia has been reported in a plethora of diseases comprising disorders of the central nervous system, the peripheral nervous system, and the neuromuscular junction as well as hereditary and acquired myopathies. In sporadic late onset nemaline myopathy concomitant axial myopathy is common, but reports about camptocormia as the only presenting symptom in this condition are very rare.
4p vivermont2711 28-01-2021 7 2 Download
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Benchmarking machine learning models for late-onset alzheimer’s disease prediction from genomic data
Late-Onset Alzheimer’s Disease (LOAD) is a leading form of dementia. There is no effective cure for LOAD, leaving the treatment efforts to depend on preventive cognitive therapies, which stand to benefit from the timely estimation of the risk of developing the disease.
17p vicolorado2711 23-10-2020 8 1 Download
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Group B streptococcus (GBS)-induced invasive disease is a major cause of illness and death among infants aged under 90 days in China; however, invasive GBS infection remains unknown in China. We aimed to describe the serotype and genotype distributions of early-onset disease (EOD) and late-onset disease (LOD), and to show the clinical correlations among various GBS serotypes and genotypes obtained from infants with invasive GBS infections.
8p viorochimaru2711 29-05-2020 10 1 Download
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Methylmalonic Aciduria and Homocystinemia, cobalamin C (cblC) is an inherited disease of vitamin B12 metabolism with a wide spectrum of clinical manifestations. cblC presenting with pulmonary hypertension (PH) as leading sympotom is rare and easily misdiagnosed because of limited awareness.
4p viorochimaru2711 29-05-2020 5 1 Download
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: Kearns-Sayre Syndrome (KSS) is a multisystem disorder caused by a dysfunction of the oxidative phosphorylation system within mitochondria. Mitochondrial DNA (mtDNA) rearrangements are a key molecular feature of this disease, which manifest a broad phenotypic spectrum.
9p vivalanbo2711 19-03-2020 18 1 Download
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Human milk is fundamental for its nutritional properties and to protect newborns, but it is not sterile and can sometime transmit bacteria. Few anecdotal cases suggest that breast milk could be a possible source of group B Streptococcus (GBS) late onset disease, although the pathogenesis is not entirely understood.
4p vidr2711 19-02-2020 12 0 Download
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The detailed characterization of the function of leucine-rich repeat kinase 2 (LRRK2) may provide insight into the molecular basis of neurodegenera-tion in Parkinson’s disease (PD) because mutations in LRRK2 cause a phe-notype with strong overlap to typical late-onset disease and LRRK2 mutations are responsible for significant proportions of PD in some popu-lations.
9p viettel02 20-02-2013 23 1 Download
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Model systems are important tools for the investigation of pathogenic processes. Especially for diseases with a late onset of symptoms and slow progression, like most spinocerebellar ataxias (SCA), it is time-consuming or even impossible to analyze all aspects of the pathogenesis in humans.
206p hotmoingay 03-01-2013 41 3 Download
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Huang, Yen and Lu (Chapter 18) review the role of SPECT in the diagnosis of idiopathic Parkinson’s disease and its differentiation from other conditions characterised by parkinsonisms such as dementia with Lewy Bodies (DLB) and vascular parkinsonism. Accurate diagnosis is clearly critical for treatment and prognosis, and the authors provide a very useful overview of recent developments in dopamine transporter imaging which have led to important advances in this area.
732p wqwqwqwqwq 21-07-2012 130 15 Download
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Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations
4p panasonic01 13-12-2011 38 2 Download