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Increasingly rare
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Lymphoplasmacyte-rich meningioma (LPM) is a rare subtype of meningioma with a low degree of malignancy and an overall preferable prognosis. The purpose of this article is to increase the understanding of the disease, reduce misdiagnosis, and improve prognosis.
16p
vishanshan
27-06-2024
1
1
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Chemotherapy is included in treatment regimens for many solid cancers, but when administered as a single agent it is rarely curative. The addition of immune checkpoint therapy to standard chemotherapy regimens has improved response rates and increased survival in some cancers.
11p
vikoch
27-06-2024
1
1
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A multi-disciplinary approach to promote engagement, inform decision-making and support clinicians and patients is increasingly advocated to realise the potential of genome-scale sequencing in the clinic for patient benefit. Here we describe the results of establishing a genomic medicine multi-disciplinary team (GM-MDT) for case selection, processing, interpretation and return of results.
12p
vibransone
28-03-2024
2
2
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Genome-wide data are increasingly important in the clinical evaluation of human disease. However, the large number of variants observed in individual patients challenges the efficiency and accuracy of diagnostic review. Recent work has shown that systematic integration of clinical phenotype data with genotype information can improve diagnostic workflows and prioritization of filtered rare variants.
17p
vioraclene
31-03-2024
1
1
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With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype–phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs.
26p
vibransone
28-03-2024
4
2
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Knowledge of the molecular etiology of neurodegenerative brain diseases (NBD) has substantially increased over the past three decades. Early genetic studies of NBD families identified rare and highly penetrant deleterious mutations in causal genes that segregate with disease.
13p
vibransone
28-03-2024
3
2
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Mutations in certain genes are known to increase breast cancer risk. We study the relevance of rare protein-truncating variants (PTVs) that may result in loss-of-function in breast cancer susceptibility genes on tumor characteristics and survival in 8852 breast cancer patients of Asian descent.
14p
vibransone
28-03-2024
4
2
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Ebook "Density functionals: Thermochemistry" aims to reflect the current state of density-functional thermochemistry. It presents highlights of ongoing research at the frontiers of DFT and discusses the outstanding problems of delocalization error and strong correlation. The first few chapters give overviews of density-functional approximations as they currently stand and push the boundaries of their applicability to increasingly complex systems, consisting of very large molecules.
194p
tudohanhtau1006
29-03-2024
1
1
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Previous large-scale studies of de novo variants identified a number of genes associated with neurode‑ velopmental disorders (NDDs); however, it was also predicted that many NDD-associated genes await discovery. Such genes can be discovered by integrating copy number variants (CNVs), which have not been fully considered in previous studies, and increasing the sample size.
20p
viellison
28-03-2024
3
2
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Chylous fistula is a rare complication following renal surgery, especially partial nephrectomy due to renal cell cancer. A unified treatment guideline for this complication is currently unavailable.
5p
vilarry
12-03-2024
4
2
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Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.
18p
vicwell
29-02-2024
2
1
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Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disap‑ pointingly low, at 25–30%. This is in part because although entire genomes are sequenced, analysis is often confined to in silico gene panels or coding regions of the genome.
25p
vicwell
29-02-2024
3
1
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Classification of rare missense variants remains an ongoing challenge in genomic medicine. Evidence of pathogenicity is often sparse, and decisions about how to weigh different evidence classes may be subjective.
12p
vicwell
29-02-2024
10
2
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To diagnose the full spectrum of hereditary and congenital diseases, genetic laboratories use many different workfows, ranging from karyotyping to exome sequencing. A single generic high-throughput workflow would greatly increase efciency. We assessed whether genome sequencing (GS) can replace these existing workflows aimed at germline genetic diagnosis for rare disease.
11p
vicwell
29-02-2024
4
2
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Cervical thymoma is a rare thymic epithelial neoplasm. Evidence supports an increased risk of second primary malignancies in patients with thymoma. We report a rare case of a patient with synchronous cervical thymoma and diffuse large B-cell lymphoma.
6p
vigojek
02-02-2024
5
1
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Dermatofibrosarcoma protuberans (DFSP) is classified as a soft tissue sarcoma, representing a rare form of skin cancer. Despite its rarity, DFSP is acknowledged as the most common skin sarcoma. The clinical features of DFSP are highly varied, making early-stage diagnosis challenging. Treatment initiated at an advanced stage significantly increases the risk of DFSP recurrence.
6p
vigojek
02-02-2024
3
1
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Nutcracker syndrome is a condition in which the left renal vein is pinched between the abdominal aorta and the superior mesenteric artery, resulting in an increase in renal vein pressure and certain symptoms. We report a very rare case of retroperitoneal hematoma caused by the rupture of varicose veins of the left ovary.
6p
vilazada
31-01-2024
3
2
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Heterotopic pregnancies are increasing in incidence with the advent of rising prevalence of in vitro fertilization and embryo transfer (IVF-ET) globally. Although rare, this condition is a serious potentially life-threatening gynaecological complication.
5p
vitiki
30-01-2024
6
2
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Mononeuritis multiplex is a rare autoimmune peripheral neuropathy that typically presents in the context of vasculitis, diabetes, infection, or as a paraneoplastic syndrome. Adverse immune-related neurological conditions have been increasingly reported with the use of immune checkpoint inhibitors against cytotoxic T-lymphocyte antigen-4 and/or the programmed cell death protein 1/programmed death ligand-1 axis.
5p
vitiki
30-01-2024
8
2
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Glucose-6-phosphate dehydrogenase deficiency is a rarely recognized predisposing factor for rhabdomyolysis. Rhabdomyolysis with coronavirus disease 2019 has been increasingly seen during the pandemic.
5p
vitiki
30-01-2024
2
2
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