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Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease.
Front Pharmacol
January 2025
Respiratory Department II, National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an autosomal dominant disorder caused by mutations in the gene, resulting in variable clinical manifestation and multi-organ dysfunction. Interstitial lung disease (ILD) is a rare phenotype of this condition. We describe a rare infant case of an 8-month-old boy who presented with progressively worsening dyspnea, along with intermittent episodes of respiratory distress and cyanosis since birth.
View Article and Find Full Text PDFAlthough granulomatous interstitial nephritis (GIN) is a rare histological finding in kidney transplants, the joint occurrence of GIN and focal segmental glomerulosclerosis (FSGS) has not, to our knowledge, been reported in the literature. We report a case of GIN and de novo FSGS in kidney transplant recipients leading to allograft failure. A 69-year-old male with a history of end-stage renal disease (ESRD) of unknown etiology, as well as liver failure from hepatitis B and C co-infection, initially had a living unrelated kidney transplant (LURT) in 2007 and subsequently received both liver and kidney transplants (SLKTs) in 2017.
View Article and Find Full Text PDFMPEMDA: A Multi-Similarity Integration Approach with Pre-completion and Error Correction for Predicting Microbe-Drug Associations.
Methods
January 2025
School of Computer Science and Engineering, Central South University, Changsha 410083, China; Hunan Provincial Key Lab on Bioinformatics, Central South University, Changsha 410083, China.
Exploring the associations between microbes and drugs offers valuable insights into their underlying mechanisms. Traditional wet lab experiments, while reliable, are often time-consuming and labor-intensive, making computational approaches an attractive alternative. Existing similarity-based machine learning models for predicting microbe-drug associations typically rely on integrated similarities as input, neglecting the unique contributions of individual similarities, which can compromise predictive accuracy.
View Article and Find Full Text PDFGeneralized epileptic discharges leading into focal onset seizure: GOFE seizures as the initial diagnosis of epilepsy.
J Neurol
January 2025
Neurology Unit, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy.
Two Years of SARS-CoV-2 Omicron Genomic Evolution in Brazil (2022-2024): Subvariant Tracking and Assessment of Regional Sequencing Efforts.
Viruses
January 2025
Bioinformatics and Biotechnology Laboratory, Campus of Gurupi, Federal University of Tocantins, Gurupi 77410-570, Brazil.
SARS-CoV-2, the virus responsible for COVID-19, has undergone significant genetic evolution since its emergence in 2019. This study examines the genomic diversity of SARS-CoV-2 in Brazil after the worst phase of the pandemic, the wider adoption of routine vaccination, and the abolishment of other non-pharmacological preventive measures from July 2022 to July 2024 using 55,951 sequences retrieved from the GISAID database. The analysis focuses on the correlation between confirmed COVID-19 cases, sequencing efforts across Brazilian states, and the distribution and evolution of viral lineages.
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