UNLABELLED: OBJECTIVE：To explore the clinical characteristics and genetic etiology of a child with CAKUTHED syndrome. METHODS: A child who was admitted to the neonatal department of Gansu Provincial Maternal and Child Health Care Hospital due to "neonatal asphyxia" in May 2021 was selected as the study subject. Genomic DNA was extracted from peripheral venous blood samples from the child and his parents, and whole exome sequencing (WES) was carried out. Sanger sequencing was used to verify the candidate variant of the PBX1 gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital [Ethics No.: 2021GSFY (65)]. RESULTS: The proband, a male neonate, manifested renal dysplasia, congenital heart disease, pulmonary dysplasia, mediastinal hernia, cryptorchidism, and clavicle dysplasia. WES revealed that he had harbored a heterozygous c.863G>A (p.Arg288Gln) missense variant in exon 6 of PBX1 gene, which resulted substitution of Arginine at position 288 by Glutamine, for which both parents were of the wild type. The variant was unreported previously and rated as pathogenic (PS2+PM1+PM2_Supporting+PP2+PP3) based on the ACMG guidelines. CONCLUSION The c.863G>A variant of the PBX1 gene probably underlay the pathogenesis in the proband. Above finding has enriched the mutational spectrum of the PBX1 gene.
Humans ; Male ; Pre-B-Cell Leukemia Transcription Factor 1/genetics* ; Phenotype ; Infant, Newborn ; Exome Sequencing ; Mutation, Missense ; Heart Defects, Congenital/genetics* ; Abnormalities, Multiple/genetics*

Objective:To explore the genetic basis for a patient with autosomal dominant retinitis pigmentosa (RP).Methods:A male patient with RP treated at Gansu Provincial Maternal and Child Health Care Hospital in September 2019 was selected as the study subject. Clinical data was collected. Peripheral blood samples of the patient and his parents were subjected to whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis.Results:The patient, a 29-year-old male, developed night blindness, amblyopia, visual field defects and optic disc abnormalities since childhood. Gene sequencing revealed that he has harbored a heterozygous c. 942G>C (p.Lys314Asn) variant of the IMPDH1 gene, which was inherited from his mother, whilst his father was of the wild type. Based on the guidelines from the American College of Medical Genetics and Genomics, the c. 942G>C variant was predicted as likely pathogenic (PM1+ PM2_Supporting+ PP3+ PP1). Conclusion:The c. 942G>C (p.Lys314Asn) variant in the IMPDH1 gene probably underlay the RP in this patient.

Objective:To investigate the protective effect and mechanism of microRNA-210 agonist (agomiR-210) on kidney in diabetic kidney disease (DKD) rats.Methods:Thirty-six 5-week-old male SD rats were divided into normal control (NC) group, agomiR-NC control group, agomiR-210 control group, DKD model group, DKD+agomiR-NC group and DKD+agomiR-210 group, with 6 rats in each group. Diabetic rats were established by a high-fat diet combined with intraperitoneal injection of streptozotocin (STZ), then were fed for 12 consecutive weeks to construct DKD model rats. During 2nd-4th week of continuous feeding, the rats in DKD+agomiR-210 group were injected with 20 nmol/kg agomiR-210 via tail vein twice a week. Blood glucose levels, 24 h urine albumin (Alb) and 24 h urine microalbumin (MAU) contents were measured regularly. At the end of the 12th week, the rats were sacrificed, and renal tissues were collected. The renal histopathological changes were assessed by HE, PAS and Masson staining methods. The mRNA and protein expression levels of tumor necrosis factor-α (TNF-α), interleukin (IL)-1β and IL-6 in renal tissues were detected by RT-qPCR and Western blot. The distributions and expressions of α-smooth muscle actin (α-SMA), typeⅠ collagen (Col-Ⅰ), type Ⅳ collagen (Col-Ⅳ) and fibronectin (FN) in renal tissues were detected by immunohistochemical method. The protein expression levels of phospho(p)-Smad3 and p-NF-κB p65 in renal tissues were detected by Western blot and immunohistochemical methods.Results:Compared with DKD model group, the renal pathological damages in DKD+agomiR-210 group were improved, the blood glucose level, glycogen deposition and collagen accumulation were significantly decreased (all P<0.05), the urinary excretions of Alb and MAU were significantly reduced (all P<0.01), and the expressions of TNF-α, IL-1β, IL-6, α-SMA, Col-Ⅰ, Col-Ⅳ, FN, p-Smad3 and p-NF-κB p65 in renal tissues were significantly decreased (all P<0.01). Conclusion:AgomiR-210 can alleviate renal pathological changes and urinary Alb and MAU excretion in rats with DKD, which may be related to its inhibition of Smad3 and NF-κB activity.

Objective To investigate the associated factors and trends of prehospital delay in elderly patients with acute ischemic stroke (AIS).Methods Elderly patients with AIS admitted to the First People's Hospital of Qujing from 2007 to 2017 were enrolled retrospectively.The data of patients was collected from the medical records.Onset-to-door time ＞ 2 h was defined as prehospital delay.The demographic and baseline data were compared between the delay group and the non-delay group.Multivariate logistic regression analysis was used to determine the associated factors for prehospital delay.In addition,the trends of prehospital delay time at the different stages of the study were also analyzed.Results A total of 1 566 patients with AIS aged ≥65 years were enrolled.Their mean age was 75.61 ±6.06 years.The mean time of prehospital delay was 10.83 ± 7.47 h (median time 8.27 h).Multivariatelogistic regression analysis showed that advanced age (odds ratio [OR] 1.271,95％ confidence interval [CI] 1.029-2.896;P =0.039),nocturnal onset (OR 1.413,95％ CI 1.067-3.859;P=0.013),and atypical symptom onset (OR 2.345,95％ CI 1.184-8.126;P=0.029) were independently positively correlated with prehospital delay,while the emergency medical service transport (OR 0.743,95％ CI 0.261-0.998;P =0.010),having medical insurance (OR 0.219,95％ CI 0.015-0.799;P =0.042),and having a bystander at the time of onset (OR 0.618,95％ CI 0.149-0.814;P=0.003) were independently negatively correlated with prehospital delay.At the different stages of the study,January 2007 to October 2010,November 2010 to April 2015,and May 2015 to December 2017,the mean time of prehospital delay was 12.59 ± 7.06 h,10.57 ±7.78 h,and 8.47 ±7.07 h,respectively.They showed a decrease trend,but the difference was not statistically significant.Conclusion Advanced age,nocturnal onset,and atypical symptom onset were the independent risk factors for prehospital delay,while emergency medical service transport,having medical insurance,and having a bystander at the time of onset were the independent protective factors for prehospital delay.The delay time of the elderly patients with AIS is declining year by year,but the improvement is not significant.The delay in seeking timely medical intervention remains an important public health problem.

Objective To discuss the influence of preoperative family purge care for the quality of life of patients with long type of congenital Hirschsprung′s disease (HD) who had enterocolitis history in neonatal period. Preoperative family purge care, which can shorten the HD postoperative treatment, improve the quality of life. Methods A total of 40 cases of patients with long type of congenital HD who had enterocolitis history in neonatal period received 1-stage radical preoperative by family phone call. Nineteen cases from January 2010 to February 2013 were as normal group and 21 cases from March 2013 to April 2016 were as improved group. Routine family purge nursing care 3-6 months were used in both the groups, while the combined nursing care of expanding anus were used in the improved group in addition. Evaluated the effects of postoperative observation indicates: the first defecation time, length of hospital stay, time needed for expanding anus, patency rate of defecation and not patency rate in 9-12 days, need enema intervention to assist defecate rate after postoperative 1 year, the recurrence of enterocolitis at 1-3 years after operation. Results The first defecation time, length of hospital stay, time needed for expanding anus were (39.15±8.23) h, (7.89±0.82)d, (5.17±0.98) min in normal group, (23.79± 7.54) h, (7.10± 0.29) d, (3.15±0.73) min in improved group, and there were significant differences between two groups (t=6.13, 5.46, 15.54, all P<0.01). The patency rate of defecation and not patency rate in 9-12 days were 12/19, 7/19 in normal group, 100.00%(21/21), 0 in improved group, and there were significant differences between two groups (χ2=9.38, P<0.01). The intervention rate of no need for enema, occasionally enema, often enema were 2/19, 12/19, 5/19 in normal group, 76.19%(16/21), 23.81%(5/21), 0 in improved group, and there were significant differences between two groups (χ2=18.25, P<0.01). There was no significant difference in the recurrence of enterocolitis at 1, 2, 3 years after operation between two groups (χ2=2.33, P>0.05). Conclusions Patient with long type of congenital HD who had enterocolitis history in neonatal period neonatal period,received family enema and expanding anus in 3- 6 months before 1-stage radical preoperative can shorten the postoperative HD treatment, improve the quality of life.

The aim of this study was expected to elucidate the possible mechanism of enhancing effects of Ginsenosides (GS) on immune function via hippocampus (HC). Our main results indicate that after the injection of GS into rat bilateral HC directly by condiuts with dose of 50 ?g/day for 4 days, thymocyte proliferative response to Con A and NK activity were increased significantly as compared with those of control groups. Furthemore, it has been found that this elevation coincides with decreased plasma ACTH and corticosterone level in the experimental group. Besides these, GS also can augment the thymocyte proliferating factor in the culture supernatant of HC slices. The data described above suggests that the action of GS induced cellular immunity appears to occur in part of neuroendocrine system by suppression pituitary-adrenal axis or of the promoting factor of HC.