Objective To modify the existed transfer trolley for collection and distribution so as to enhance cleaning and disinfection.Methods The existed transfer trolley was added with an intake pipe,a spray nozzle,a drilled divider,a drainage pipe and etc for perfusion rinse,and equipped with auxiliary mechanisms such as a protective support and preserver.Omnidirectional cleaning and disinfection of the trolley were executed by the intake pipe,nozzle and high-pressure irrigation machine.Results The trolley prevented the disinfection solution from spitting,ensured the safety of the staff and environment,and had the qualified rate of disinfection being 100％.Conclusion The modified transfer trolley gains advantages in environmental protection,energy saving and practicability,and thus is worthy promoting clinically.

OBJECTIVE: To explore the genetic basis for an infant with permanent neonatal diabetes mellitus (PNDM). METHODS: Clinical data of the child was collected. Targeted capture-next generation sequencing was carried out to identify the potential variants. Candidate variant was verified by Sanger sequencing of her family members. RESULTS: The child was a 4-month-and-26-day female featuring onset of ketoacidosis accompanied with fasting blood glucose of 24.4 mmol/L, positive urine glucose, decreased serum C-peptide, HbA1c of 9.58%, and negative diabetes autoantibody. Genetic testing revealed that she has carried a heterozygous c.314T>G (p.L105R) variant of the INS gene. Sanger sequencing verified that neither of her parents has carried the same variant, which was also unreported in the literature. The variant was classified as likely pathogenic based on the ACMG guidelines. CONCLUSION The c.314T>G (P.L105R) variant of the INS gene probably underlay the genetic etiology in this child. Genetic testing should be conducted for children with suspected PNDM for early diagnosis and appropriate treatment.
Humans ; Infant ; Child ; Infant, Newborn ; Female ; Mutation ; Insulin/genetics* ; Diabetes Mellitus/genetics* ; Genetic Testing

OBJECTIVE: To explore the clinical features and genetic etiology of a patient with primary distal renal tubular acidosis (dRTA). METHODS: A child who was diagnosed with primary dRTA at the Xi'an Children's Hospital in April 2021 due to poor appetite and persistent crying was selected as the study subject. Clinical data of the patient was collected. Whole exome sequencing (WES) was carried out for the child. Candidate variants were validated by Sanger sequencing of his family members. RESULTS: The child, a 1-month-and-18-day male, had featured poor appetite, persistent crying, poor weight gain and dehydration. Laboratory examination has suggested metabolic acidosis, hyperchloremia, hypokalemia, abnormal alkaline urine and anemia. Ultrasonographic examination of the urinary system revealed calcium deposition in renal medulla. DNA sequencing revealed that he has harbored compound heterozygous variants of the ATP6V0A4 gene, namely c.1363dupA (p.M455NfsX14) and c.2257C>T (p.Q753X), which were respectively inherited from his father and mother. Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were classified as pathogenic (PVS1+PM3+PM2_Supporting). CONCLUSION The compound heterozygous variants of c.1363dupA (p.M455NfsX14) and c.2257C>T (p.Q753X) of the ATP6V0A4 gene probably underlay the pathogenesis of primary dRTA in this patient. Discovery of the c.2257C>T (p.Q753X) variant has also expanded the mutational spectrum of the ATP6V0A4 gene.
Humans ; Male ; Acidosis, Renal Tubular/genetics* ; Family ; Genomics ; Hypokalemia ; Infant

Objective:To provide molecular evidence for clinical diagnosis and genetic counseling by analyzing the clinical characteristics and identifying the pathogenic genes in a SPONASTRIME-type spondyloepimetaphyseal dysplasia(SEMDSP)family.Methods:Clinical data of the family members was collected and analyzed. Case 2 was identified as the proband for whole-exome sequencing and variant analysis. Suspected variants were validated across family numbers using Sanger sequencing.Results:The two affected individuals in this family, a brother and a sister, both presented as short stature. The initial diagnosis for the sister(case 1)was made at the age of 4 years and 2 months(height: 88.6 cm), and for the brother(case 2)at 4 years and 4 months(height: 81.6 cm). Both individuals exhibited distinctive facial features, including frontal bossing, midface hypoplasia with depressed nasal bridge, upturned nostrils, ocular hypertelorism, and epicanthus, thick hair, short lingual frenulum, stubby fingers and palms, and absence of scoliosis. The parents displayed normal phenotypes. Laboratory tests indicated growth hormone deficiency in both affected individuals. Imaging studies revealed significant bone age delay in case 2, while case 1 showed longitudinal striations at the distal radius but with bone age matching their actual age(5 years and 11 months). Despite receiving recombinant human growth hormone treatment, both patients had inadequate responses. Genetic testing identified compound heterozygous mutations in the TONSL gene shared by the two siblings. These mutations included a paternally inherited c. 1291-14_1291-11delCCTC and a maternally inherited c. 1909_1920delACGCTGCAGCAG. Notably, SEMDSP families have not been reported in China, and the c. 1909_1920delACGCTGCAGCAG mutation is a novel variant.Conclusion:Two patients were diagnosed as spondyloepimetaphyseal dysplasia, SPONASTRIME type, and the compound heterozygous variant was the genetic cause of this family.

Objective To study the present situation and influence factors of pulmonary rehabilitation among COPD patients in community.Methods The present situation of pulmonary rehabilitation was investigated using questionnaire in 201 COPD patients,including one community in Guangzhou and three communities in Qingyuan,and the influencing factors were analyzed by Logistic regression.Results Total of 201 COPD patients,20.4％ COPD patients could insist on oxygen therapy,just one patient's oxygen time more than 15 hours;40.8％ COPD patients would increase the oxygen flow if exacerbation;17.9％ COPD patients could insist on respiratory exercising,and 75.5％ COPD patients took exercise in wrong way.50.7％ COPD patients took exercise in their life.3-4 times in hospital with a high rate of home oxygen therapy.Farmers and the course more than ten years with a high rate of exercising.Conclusions The cognition of COPD patients about pulmonary rehabilitation is poor,and also the compliance of pulmonary rehabilitation exercise is bad.The medical staff should strengthen the education of pulmonary rehabilitation of COPI patients in community,and pay attention to patients' hospitalization,occupation,and course of disease.

This study was designed to investigate the potential protective effect of isopimpinelline against para-chlorophenylalanine(PCPA)-induced pineal gland damage in rats.Forty male Sprague-Dawley(SD)rats were divided into four groups(n=10 each):a normal group,a model group,a melatonin-treated group(10 mg/kg),and an isopimpinelline-treated group(1.5 mg/kg).All groups,except for the normal,received intraperitoneal injection of PCPA(450 mg/kg)to induce pineal gland damage.Subsequent treatments were administered orally for 7 days.Sleep latency and duration were evaluated on the sixth day using the pentobarbital sodium sleep synergy test.After the treatment period,serum melatonin levels and pineal gland inflammation markers were assessed alongside oxidative and antioxidative parameters.Histological examinations of the pineal gland were conducted,and the expression of proteins related to the Nrf2 and NF-κB signaling pathways were quantified.Data showed that isopimpinelline alleviates the structural damage in the pineal gland of model rats,significantly elevated serum melatonin levels,and markedly improved sleep latency and duration(P＜0.05).Isopimpinelline activated the Nrf2 signaling pathway by inhibiting Keap1 expression,which facilitated the nuclear translocation of Nrf2 and upregulated the antioxidant proteins NQO1 and HO-1,thereby mitigating oxidative stress in the pineal gland(P＜0.05).Furthermore,isopimpinelline significantly reduced the levels of pro-inflammatory cytokines IL-2,TNF-α and IL-6.Isopimpinelline also suppressed the NF-κB signaling pathway,reducing the expression of NF-κB p65,IKKβ,and p-IKKβ proteins,as well as the nuclear translocation of NF-κB p65(P＜0.05),thereby providing anti-inflammatory benefits.In conclusion,isopimpinelline could protect pineal gland from damage by activating the Nrf2 signaling pathway and inhibiting the NF-κB pathway.

OBJECTIVE：To establish the method for content determination of 6 components in Fuzheng guben granules ，such as 2，3，5，4′-tetrahydroxystilbene glucoside ，baicalin，icariin，scutellarin，baicalein and wogonin. METHODS ：HPLC method was adopted. The determination was performed on Dikma Diamonsil C 18 column with mobile phase consisted of acetonitrile- 0.1％ phosphoric acid aqueous solution （gradient elution ）at the flow rate of 1.0 mL/min. The detection wavelengths were set at 275 nm （0-8 min），320 nm（8-9 min）and 275 nm（9-33 min）. The column temperature was set at 25 ℃，and sample size was 10 μL. With baicalin as reference material ，the relative corr ection factors （fk/s） of other five components were calculated by multi-point correction method and slope correction method ；the retention time difference method was used to locate the chromatographic peaks ； the calculation values obtained by above 2 QAMS were compared with measured values of external standard method. RESULTS ： The linear range of 2，3，5，4′-tetrahydroxystilbene glucoside ，baicalin，icariin，scutellarin，baicalein and wogonin were 0.053-2.12， 0.163-6.52，0.059-2.36，0.021 6-0.864，0.03-1.2，0.021-0.84 μg（r＞0.999），respectively. RSDs of precision ，stability（12 h）and reproducibility tests were all lower than 3％. Average recoveries were 98.72％-99.82％（RSDs were 0.89％-1.24％，n＝9）. Using baicalin as reference material ，fk/s of multi-point correction method for 2，3，5，4′-tetrahydroxystilbene glucoside ，icariin，scutellarin， baicalein and wogonin were 1.172，0.528，1.479，1.820 and 2.534，respectively；fk/s of slope correction method were 1.234， 0.550，1.559，1.939，2.664. RSDs of 6 components in 10 batches of Fuzheng guben granules by 3 methods were 0.29％-2.77％ （n＝10），respectively. Pearson correlation coefficient was not lower than 0.999 9（P＜0.001）in measured values between QAMS and external standard method. CONCLUSIONS ：QAMS method is established successfully for simultaneous determination of 6 components in Fuzheng guben granules.

OBJECTIVE：To study the improvement effects of isopimpinelline on p-chlorophenylalanine（PCPA）-induced pineal injury model rats and its effect on expression of biological clock gene. METHODS ：Totally 60 rats were divided into blank control group（2％ polysorbate solution），model control group （2％ polysorbate solution），positive control group （melatonin，10 mg/kg） and isopimpinelline high-dose ，medium-dose and low-dose groups （3，1.5，0.75 mg/kg）. Except for blank control group ，rats in other groups were given PCPA intraperitoneally （450 mg/kg）to establish pineal injury model. After modeling finished ，they were given relevant medicine intragastrically ，once a day ，for consecutive 7 d. On the 6th day of administration ，the sleep latency and sleep duration of rats in each group were investigated by pentobarbital sodium coordination sleep test ；after last administration ， ELISA assay was used to determine the serum level of melatonin in rats. Fluorescence microscope and electron microscope were used to observe the pathological tissue and cell ultrastructure changes of the pineal gland. RT-qPCR was used to detect the mRNA expressions of biological clock gene Clock，Bmal1，Per1，Per2，Per3，Cry1，Cry2 in pineal gland of rats. RESULTS ：Compared with blank control group ，model control group had significantly longer sleep latency （P＜0.05）；serum melatonin ，mRNA expressions of Bmal1 and Per1 in pineal gland were significantly decreased （P＜0.05 or P＜0.01）while mRNA expression of Per3 was increased significantly （P＜0.05）. The pineal gland cell arrangement disorder ，nuclear pyknosis ，vacuolar degeneration increased and cell number decreased significantly ；mitochondria swollen ，cristae broken and pyknosis were observed. Compared with model control group ，the sleep latency of isopimpinelline high-dose group was shortened significantly （P＜0.05），sleep duration time was prolonged significantly （P＜0.05）；the levels of melatonin in serum ，mRNA expressions of Clock，Bmal1， Per1，Cry1 and Cry2 in pineal gland of rats were increased significantly （P＜0.05 or P＜0.01）. In isopimpinelline medium-dose group，the sleep latency was shortened significantly （P＜0.05）；the levels of melatonin in serum and mRNA expressions of Clock， Bmal1，Per1，Cry1，Cry2 in pineal gland were increased significantly （P＜0.05 or P＜0.01），while mRNA expression of Per3 was decreased significantly （P＜0.05）. In isopimpinelline low-dose group ，the levels of mRNA expressions of Clock，Bmal1，Per2 and Cry2 were increased significantly （P＜0.05），while mRNA expression of Per3 was decreased significantly （P＜0.05）. Cell arrangement disorder was improved and nuclear pyknosis vacuole degeneration was decreased to some extent in isopimpinelline groups；mitochondria swelled ，cristae fractured ，and pyknosis decreased to some extent. CONCLUSIONS ：Isopimpinelline can improve PCPA-induced pineal gland injury in rats ；it can up-regulate the expressions of positive regulators Clock，Bmal1 and negative regulators Per1，Per2，Cry1，Cry2，while down-regulate the expression of negative regulator Per3.