ABSTRACT
Clinical data of 15 patients diagnosed with acute renal infarction (ARI) in Affiliated Zhongshan Hospital of Dalian University from Jan 2011 to Dec 2021 were retrospectively analyzed. Of the included 15 patients, there were 14 cases of cardiac origin and 1 case of antiphospholipid syndrome. We found that there were 12 cases of atrial fibrillation, 2 cases of atrial premature beats, 12 cases of elevated level of D-dimer, 15 cases of elevated level of LDH, 11 cases of positive urine occult blood and positive urine protein. Among the 15 patients, catheter-directed thrombolysis was performed in 4 cases, of which 3 cases were revascularized successfully, intravenous thrombolysis in 2 cases and alone anticoagulation therapy in 9 cases. It is suggested that CECT or CTA can assist the early diagnosis of ARI especially in patients with acute onset and persistent abdominal pain with high risk factors of thromboembolism, high levels of LDH, microscopic hematuria and/or proteinuria. Despite prolonged embolic ischemia, try to reconstruct blood flow to save the kidney as much as possible. Late standardized anticoagulant therapy is of critical importance to prevent recurrent embolic episodes.
ABSTRACT
The Ly-6 and uPAR (LU) domain-containing proteins represent a large family of cell-surface markers. In particular, mouse Ly-6A/Sca-1 is a widely used marker for various stem cells; however, its human ortholog is missing. In this study, based on a systematic survey and comparative genomic study of mouse and human LU domain-containing proteins, we identified a previously unannotated human gene encoding the candidate ortholog of mouse Ly-6A/Sca-1. This gene, hereby named LY6A, reversely overlaps with a lncRNA gene in the majority of exonic sequences. We found that LY6A is aberrantly expressed in pituitary tumors, but not in normal pituitary tissues, and may contribute to tumorigenesis. Similar to mouse Ly-6A/Sca-1, human LY6A is also upregulated by interferon, suggesting a conserved transcriptional regulatory mechanism between humans and mice. We cloned the full-length LY6A cDNA, whose encoded protein sequence, domain architecture, and exon-intron structures are all well conserved with mouse Ly-6A/Sca-1. Ectopic expression of the LY6A protein in cells demonstrates that it acts the same as mouse Ly-6A/Sca-1 in their processing and glycosylphosphatidylinositol anchoring to the cell membrane. Collectively, these studies unveil a novel human gene encoding a candidate biomarker and provide an interesting model gene for studying gene regulatory and evolutionary mechanisms.
Subject(s)
Humans , Membrane Proteins/genetics , Pituitary Neoplasms/genetics , BiomarkersABSTRACT
Glucose transporter type 1 deficiency syndrome is a rare neurometabolic disorder caused by mutations of the solute carrier family 2 facilitated glucose transporter member 1 (SLC2A1) gene,characterized by complex manifestations including early onset epilepsy,motor and mental retardation,and movement disorders and so on.Ketogenic-diet is most suitable therapy and should be commenced as early as possible because timing the initiation of the diet may prevent seizure,movement disorder,and cognitive impairment.This review aims to improve the clinicians' understanding of glucose transporter type 1 deficiency syndrome to ensure the diagnosis as early as possible.
ABSTRACT
Glucose transporter type 1 deficiency syndrome is a rare neurometabolic disorder caused by mutations of the solute carrier family 2 facilitated glucose transporter member 1 (SLC2A1) gene, characterized by complex manifestations including early onset epilepsy, motor and mental retardation, and movement disorders and so on. Ketogenic-diet is most suitable therapy and should be commenced as early as possible because timing the initiation of the diet may prevent seizure, movement disorder, and cognitive impairment. This review aims to improve the clinicians′ understanding of glucose transporter type 1 deficiency syndrome to ensure the diagnosis as early as possible.