ABSTRACT
Objective:To study the genetic profile of neonatal hyperbilirubinemia with unknown etiology in Guangdong Province and the clinical significance of jaundice-related genetic screening.Methods:From July to September, 2021, neonates with hyperbilirubinemia of unknown etiology born in different hospitals in Guangdong Province were studied. 24 neonatal jaundice-related exons were sequenced using targeted capture and high-throughput sequencing technology. The pathogenic variants were analyzed.Results:A total of 331 cases, 139 (42.0%) cases showed positive screening results with five diseases, including 65 (19.6%) cases of Gilbert syndrome, 48 (14.5%) cases of glucose-6-phosphate dehydrogenase (G6PD) deficiency,18 (5.4%) cases of sodium taurocholate cotransporting polypeptide deficiency, 4 (1.2%) cases of Citrin deficiency and 4 (1.2%) cases of Dubin-Johnson syndrome. 149 (45.0%) cases carried one or more genetic variants and 43 (13.0%) cases showed no clinically significant variants. The 8 high-frequency mutation loci (carrier rate >1%) are UGT1A1 gene c.211G>A and c.1091C>T, G6PD gene c.1466G>T and c.1478G>A, SLC10A1 gene c.800C>T, SLC25A13 gene c.852_855del TATG, HBB gene c.126_129delCTTT and c.316-197C>T.Conclusions:Genetic factors are important for neonatal hyperbilirubinemia with unknown etiology in Guangdong. The common pathogenic genes are UGT1A1, G6PD, SLC10A1, and SLC25A13 and the population carries high-frequency mutation loci. Therefore, genetic screening in neonates with hyperbilirubinemia of unknown etiology has important clinical significance.
ABSTRACT
Objective To explore the clinical diagnosis and treatment of nervous system damage caused by invasive fungi nasosinusitis.Methods 7 patients with nervous system damage caused by invasive fungi nasosinusitis were selected,and the clinical,imaging and pathological data of the patients were reviewed retrospectively.Laboratory tests were used in patients with cerebrospinal fluid (CSF).Imaging used CT or MRI examination.Results In the past history of the patients,no one with nasosinusitis.5 patients immunocompromised and 2 cases had no special medical history.All patients were diagnosed with neurological damage after admission.Under the microscope,fungal cultures showed Aspergillus in 4 cases,Mucor in 2 cases,Cryptococcus in 1 case.In the imaging,all patients had sinus lesions,base of skull destruction in 4 cases.Used surgical interventions and drug for 7 patients,6 cases recovered and 1 case died.Conclusion Using antibiotics and glucocorticoid for a long time or suffered from diabetes and tumour may have higher incidence of invasive fungi nasosinusitis and damage the nervous.It is one of the leading causes of patients with immune deficiencies deaths.
ABSTRACT
Objective To investigate the brain protective effect of isoflurane preconditioning on the rat liver against ischemia-reperfusion through determining the content of S-100β protein in peripheral blood in combination with mitochondrial ultrastructure in rat brain.Methods A total of 45 SD rats were randomly divided into three groups,sham group (group S):the only separation of the hepatoduodenal ligament,but did not block the hepatic portal blood supply; ischemia-reperfusion group (group I/R):liver ischemia 60min,reperfusion 120 min; isoflurane preconditioning group (group ISO):60 min before liver I/R,ISO pretreatment for 30 min,elution in the air after 30 min; 24 h after recirculation the forebrain tissues were rapidly removed.The changes of mitochondrial ultrastructure were observed by electron microscopy.The content of S-100β protein in serum was measured before ischemia and reperfusion 120 min through the application of Elisa kit.Results Marked swelling of mitochondria with disrupted cristae and damaged matrix were observed in group I/R,while relative intact mitochondria were seen in sham and ISO groups.The content of S-100β protein in serum was significantly higher in I/R group [(1.52 ±0.26) μg/ml] than in sham [(0.31 ±0.05)μg/ml] and ISO [(0.79 ± 0.21) μg/ml] groups (P ＜0.05).Conclusions The liver ischemia-reperfusion may injure the brain of the rat and isoflurane preconditioning can protect the rat brain from injury.
ABSTRACT
To obtain bovine adipose-derived stem cells (ADSCs), bovine ADSCs were digested in collagenase type I solution. The growth curve of ADSCs was checked by cell counting. Chromosome analysis was checked. The molecular markers of ADSCs were detected with immunofluorescence staining. The morphology of ADSCs was identical to fibroblast like and the cells showed active proliferative ability. Vimentin, CD49d and CD13 antigens were detected, but CD34 antigen was negative. Alkaline phosphatase activity was greater in ADSCs during calcification, and Alizarin Red staining was positive. Lipid droplets were apparent around cells during adipogenesis, and Oil Red-O staining was positive. The results demonstrated that ADSCs could be used as seed cells for tissue engineering due to the simple isolation, differentiation and stable and active growth.