ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra+17 more
wiley +1 more source
Pinball-OCSVM for early-stage COVID-19 diagnosis with limited posteroanterior chest X-ray images [PDF]
The infection of respiratory coronavirus disease 2019 (COVID-19) starts with the upper respiratory tract and as the virus grows, the infection can progress to lungs and develop pneumonia. The conventional way of COVID-19 diagnosis is reverse transcription polymerase chain reaction (RT-PCR), which is less sensitive during early stages; especially if the
arxiv
A Polymerase-chain-reaction Assay for the Specific Identification of Transcripts Encoded by Individual Carcinoembryonic Antigen (CEA)-gene-family Members [PDF]
Carcinoembryonic antigen (CEA) is a tumor marker that belongs to a family of closely related molecules with variable expression patterns. We have developed sets of oligonucleotide primers for the specific amplification of transcripts from individual CEA ...
Ang+34 more
core +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas+24 more
wiley +1 more source
CT-CAPS: Feature Extraction-based Automated Framework for COVID-19 Disease Identification from Chest CT Scans using Capsule Networks [PDF]
The global outbreak of the novel corona virus (COVID-19) disease has drastically impacted the world and led to one of the most challenging crisis across the globe since World War II. The early diagnosis and isolation of COVID-19 positive cases are considered as crucial steps towards preventing the spread of the disease and flattening the epidemic curve.
arxiv
Rapid and sensitive insulated isothermal PCR for point-of-need feline leukaemia virus detection [PDF]
Objectives: Feline leukaemia virus (FeLV), a gamma retrovirus, causes diseases of the feline haematopoietic system that are invariably fatal. Rapid and accurate testing at the point-of-need (PON) supports prevention of virus spread and management of ...
Anis, Eman+8 more
core +1 more source
SEROLOGICAL AND MOLECULAR DETECTION OF COWPAE MOSAIC VIRUS INFECTING COWPAE IN IRAQ
This study was conducted to detect CPMV in infecting cowpea plantes at Plant Protection Department/College of Agriculture, University of Baghdad. Symptomatic cowpea plants collected from fields in Baghdad and Diyala Provinces were tested by Emzyme-linked
Abd Al-Hakeem A. Al-Shamary+1 more
doaj +1 more source
The axolotl's remarkable regenerative abilities decline with age, the causes may include the numerous repetitive elements within its genome. This study uncovers how Ty3 retrotransposons and coexpression networks involving muscle and immune pathways respond to aging and regeneration, suggesting that transposons respond to physiological shifts and may ...
Samuel Ruiz‐Pérez+8 more
wiley +1 more source
Detection of Covid-19 Patients with Convolutional Neural Network Based Features on Multi-class X-ray Chest Images [PDF]
Covid-19 is a very serious deadly disease that has been announced as a pandemic by the world health organization (WHO). The whole world is working with all its might to end Covid-19 pandemic, which puts countries in serious health and economic problems, as soon as possible. The most important of these is to correctly identify those who get the Covid-19.
arxiv
On-site detection of equid alphaherpesvirus 3 in perineal and genital swabs of mares and stallions [PDF]
Equine coital exanthema (ECE) is an infectious, venereally transmitted muco-cutaneous disease affecting mares and stallions, caused by equid alphaherpesvirus 3 (EHV3).
Barrandeguy, María Edith+8 more
core +1 more source