Objective To investigate the effect efficacy of integrated traditional Chinese and western medicine on intestinal mucosal permeability in the patients with diarrhea after chemotherapy for lung cancer. Methods From January 2016 to June 2017, 78 patients with diarrhea after chemotherapy for lung cancer who were treated in the outpatient clinic or during hospitalization were selected, and were randomly divided into integrated Chinese and western medicine group and western medicine group. The patients in the western medicine group were given montmorillonite powder, rehydration (intravenous or oral) to correct water and electrolyte acid-base balance disorders and other western conventional treatments. The integrated Chinese and western medicine group was further given modified Shaoyao Decoction on the basis of the western group. Both groups were given the dosage for 72h. The changes of serum ET, D-lactate and TNF-a before and after treatment were determined and compared between the two groups, and the clinical effect was compared. Results After 72 hours of treatment, the levels of serum ET, D-lactate and TNF-a indices in the two groups were significantly decreased (P＜0. 05 or P＜0. 01). And in the degree of decrease, the integrated Chinese and western medicine group was more significant than the western medicine group (P＜0. 05); at the same time, the total effective rate in the integrated Chinese and western medicine group was higher than that in the western medicine group (χ2=4. 52, P＜ 0. 05). Conclusion Integrated Chinese and western medicine in the treatment of diarrhea after chemotherapy for lung cancer has more positive effects, which can significantly reduce the serum ET, D-lactic acid and TNF-a, and protect the intestinal mucosal barrier to reduce its permeability.

Objective:To report four male COL4A5 mutation mosaicism patients with X-linked Alport syndrome, and to provide evidence for diagnosis, genetic counseling, and reproduction in the respective families and improve our knowledge of mosaicism in Alport syndrome. Methods:Suspected male mosaic patients for COL4A5 who met the following criteria: clinical diagnosis of Alport syndrome, harbored COL4A5 mutations detected using next generation sequencing or Sanger sequencing, heterozygosity for the mutant and normal COL4A5 alleles in the DNA demonstrated by Sanger sequencing, registered in the on-line registry of hereditary kidney diseases, and admitted to Peking University First Hospital during the period of April 2018 to April 2019 were enrolled. Clinical data and karyotypes were retrospectively analyzed. Genetic DNA isolated from multiple tissues was analyzed for COL4A5 gene mutations by using PCR and Sanger sequencing. Related literatures published in PubMed, CNKI and Wanfang databases were reviewed. Results:Four COL4A5 somatic and germline mosaic male patients with Alport syndrome were included in the study. Patient 1 was characterized by hematuria and proteinuria. His karyotype of peripheral blood was normal. COL4A5 c.3455-1G>A mosaicism was detected in multiple tissues (peripheral blood, saliva and urine). Patient 2 presented with hematuria and microalbuminuria. His karyotype of peripheral blood was normal. COL4A5 c.4994+1G>A mosaicism was detected in multiple tissues (peripheral blood, saliva and skin fibroblasts). Patients 3 showed hematuria without proteinuria. COL4A5 c.3535G>A mosaicism was found in genomic DNA of peripheral blood and hair. Laboratory and physical examinations of patient 4 showed hematuria and normal renal function, without proteinuria, megasoma or small testes. COL4A5 c.3106G>A mosaicism was detected in genomic DNA of skin fibroblasts. Although without karyotype analysis due to unavailable specimens, 47,XXY or 46,XY/47,XXY mosaicism was not considered according to the reproductive history and lack of clinical manifestations of megasoma and small testes in patients 3 and 4. Renal disease in 8 published male cases with mosaicism for COL4A5 was affected by mutant allelic fractions and genotype. Conclusions:Compared with hemizygous males with X-linked Alport syndrome, the renal phenotype of mosaic males was milder, and associated with mutant allelic fractions and mutation type.

Objective To explore the feasibility of establishing such an on_line registry of hereditary kidney diseases in Chinese children. Methods Selecting disease categories,designing input parameters,data quality and secu_rity are key factors of establishing an on_line registry of hereditary kidney diseases including general information,clini_cal data,relevant examinations,genetic testing,medication and follow_up. Results The first on_line,multi_cen_tered registry of children with hereditary kidney diseases in China was established using Java language and MySQL data_base. It contained 1 580 parameters and covered 6 major hereditary kidney diseases including Alport syndrome,protei_nuria related kidney disease,renal tubular disease,renal cystic disease,congenital anomalies of kidney and urinary tract and other hereditary kidney diseases. To date,a total of about 2 200 families from 32 tertiary hospitals have been regis_tered. About 648 families have well_documented follow_up records with a maximum follow_up of 13. 5 years. The registration system has data screening,export and simple statistical functions. The registry system had a clear interface, and was convenient and friendly to use. The input data could be real_time updated,and dedicated personnel was re_sponsible for data review and quality control to ensure security and reliability. Conclusions The on_line registry of children with hereditary kidney diseases not only facilitates standardized management of patients. Moreover,it provides a platform and a good foundation for the establishment and expansion of clinical research cohort.

Objective:To analyze the consistency of the clinical phenotype of Alport syndrome between monozygotic twins.Methods:This retrospective study included identical twins with Alport syndrome who met the inclusion and exclusion criteria and were admitted to Peking University First Hospital from January 2000 to March 2019. Their clinical data and urinary epidermal growth factor (uEGF) level were extracted from the on-line registry system of hereditary kidney diseases, and analyzed retrospectively.Results:Three pairs of monozygotic twins with X-linked Alport syndrome from three non-consanguineous families were included. The consistency of the genotype status between the twins tended to confirm their monozygotic relationship. The first twins were term infants, and the twin 1A had a normal birth weight (2 500 g) while twin 1B was small for gestational age (2 450 g) . The other two pairs of twins were preterm, with different birth weights between twins 2 (2A is 2 450 g, 2B is 1 900 g) , but similar birth weights between twins 3. Although raised in the same environment, compared with twin 1A, 1B had obvious growth retardation. However, growth rate in the remaining twins were consistent. The renal abnormalities were not exactly the same between both twins 1 and twins 2, but was almost the same in twins 3. Both 1A and 1B were characterized by massive proteinuria and renal dysfunction, whereas 1B had worse renal function. At the last follow-up, 1A was diagnosed with stage 3 of chronic kidney disease (CKD) whereas 1B was CKD stage 4. Although renal function in twins 2 were normal, 2A had prominent proteinuria(24 h urinary total protein: 0.22 g) while 2B only had microalbuminuria(urinary albumin-to-creatinine ratio: 65 mg/g). Compared with the age-matched healthy controls, the concentration of uEGF normalized by urine creatinine (uEGF/Cr) were significantly lower in these twins. Besides, the twin-boy who had lower estimated glomerular filtration rates had lower uEGF/Cr. However, the extrarenal manifestations such as ocular and acoustic abnormalities were similar between the twins. Twins 2 and 3 showed bilateral temporal retinal thinning, and twins 1 both had binaural mild mid-low frequency sensorineural deafness.Conclusions:Renal manifestations of X-linked Alport syndrome in monozygotic twins may differ from each other, whereas the extrarenal manifestations including ocular and acoustic abnormalities may be consistent. Low birth weight and growth retardation may be associated with the progression of renal dysfunction.

Objective:To explore the effect of intelligent rehabilitation device on lower limb function rehabilitation in stroke patients with hemiplegia.Methods:Using convenience sampling, 186 stroke hemiplegic patients admitted to the Department of Neurology and Surgery of Brain Hospital, Cangzhou Central Hospital from July 2021 to July 2022 were selected as the study subject. The patients were divided into a control group, a strengthening group, and an intelligent rehabilitation group, with 62 patients in each group using the random number table. The control group received routine rehabilitation for 40 minutes per day, 5 days per week, for a total of 4 weeks. On the basis of the control group, the strengthening group received an additional 30 minutes of routine rehabilitation training every day. The intelligent rehabilitation group received an additional 30 minutes of intelligent rehabilitation device exercise per day on top of the control group. The Fugl-Meyer Assessment Lower Extremity (FMA-L), Berg Balance Scale (BBS) scores, and Functional Ambulation Category (FAC) grading of three groups of patients before and after intervention were compared.Results:Sixty patients in each group completed the study. The FMA-L and BBS scores of the three groups of patients after intervention were higher than those before intervention, and the FAC grading was better than that that before intervention, with statistical differences ( P<0.05). After intervention, the FAM-L and BBS scores of the intelligent rehabilitation group were higher than those of the control group and the strengthening group, and the FAC grading was better than that of the control group and the strengthening group, and the differences were statistically significant ( P<0.05) . Conclusions:The intelligent rehabilitation device can improve the lower limb function of stroke patients with hemiplegia, and is worthy of clinical promotion and practice.

Objective:To explore the effectiveness of intelligent multifunctional rehabilitation instrument for lower limb diseases in preventing deep vein thrombosis in stroke patients with hemiplegia.Methods:From September 2022 to September 2023, convenience sampling was used to select 121 stroke patients with hemiplegia admitted to the Department of Neurology, Neurosurgery, and Rehabilitation of Cangzhou Central Hospital as the study subject. The study subjects were divided into a control group ( n=58) and an observation group ( n=63) using the random number table method. The control group was treated with standard medication and routine rehabilitation nursing, while the observation group was treated with the intelligent multifunctional rehabilitation instrument for lower limb diseases on the basis of the control group. The intervention time was four weeks for both groups. This study compared the incidence of clinical symptoms of lower limbs (swelling, pain, skin temperature, gastrocnemius test results) and deep vein thrombosis in the lower limbs between two groups of patients after intervention. The plasma D-dimer levels, femoral vein blood flow velocity, and blood flow of the two groups of patients before and after intervention were also compared. Results:After intervention, the number of cases of lower limb clinical symptoms (swelling, pain, elevated skin temperature, positive results of gastrocnemius muscle test) and deep vein thrombosis in the observation group was lower than that in the control group ( P<0.05). In the observation group, the plasma D-dimer levels of patients were lower than those of the control group ( P<0.05), and the femoral vein blood flow velocity and blood flow were higher than those of the control group ( P<0.05) . Conclusions:The intelligent multifunctional rehabilitation instrument for lower limb diseases can effectively prevent the occurrence of deep vein thrombosis in stroke patients with hemiplegia.

Objective: To analyze the phenotype and F5 gene variant in a pedigree affected with hereditary coagulation factor Ⅴ (FⅤ) deficiency. Methods: All of the exons, flanking sequences, and 5′ and 3′ untranslated regions of the F5 gene were subjected to PCR and direct sequencing. Suspected variant sites were confirmed by clone sequencing. Influence of the variants was predicted by using software including ClustalX and Mutation Taster. Results: The prothrombin time (PT) and activated partial thromboplastin time (APTT) of the proband were prolonged to 20.3 s and 59.2 s, respectively, while FⅤ activity (FⅤ∶C) and FⅤ antigen (FⅤ∶Ag) were reduced by 13% and 17%, respectively. The FⅤ∶C and FⅤ∶Ag of his father, sister and daughter were decreased to 35%, 37%, 29% and 42%, 46%, 35%, respectively. The proband was found to carry a heterozygous c. 2851delT variant in exon 13 of the F5 gene, which caused a frameshift and resulted in a truncated protein (p.Ser923LeufsX8). In addition, a heterozygous c. 1538G>A (p.Arg485Lys) variant was found in exon 10. The father, sister and daughter of the proband all carried the p. Ser923LeufsX8 variant, while his mother and son carried the heterozygous p. Arg485Lys polymorphism. His younger brother and wife were of the wild type. Bioinformatic analysis showed that p. Ser923 was highly conserved across various species. Mutation Taster scored 1.00 for the p. Ser923LeufsX8 variant, and the result has predicted a corresponding disease. Conclusion A heterozygous deletional mutation c. 2851delT in exon 13 of the F5 gene and a heterozygous c. 1538G>A polymorphism harbored by the proband may be associated with the decreased FⅤ level in this pedigree.

ObjectiveTo explore the mechanism of Huanglian Ejiaotang in intervening in insomnia based on 5-hydroxytryptamine （5-HT） system and gut microbiota. MethodFifty-five SPF-grade SD rats were randomly divided into normal group， model group， low-， medium-， and high-dose Huanglian Ejiaotang groups （1.925， 3.85， and 7.7 g·kg^-1）， and Estazolam group （0.1 mg·kg^-1）. Except for those in the normal group， the rats in the other five groups were subjected to sleep deprivation on a narrow platform for 12 hours daily for 21 consecutive days. After 14 days of drug intervention， the sleep， exploratory behavior， and depressive-like behavior of the rats were assessed using the pentobarbital sodium sleep synergistic test， the open field test， and the sugar preference test， respectively. Enzyme-linked immunosorbent assay （ELISA） was used to detect the levels of 5-HT， 5-hydroxyindoleacetic acid （5-HIAA）， tryptophan hydroxylase （TPH）， and monoamine oxidase-A （MAO-A）. Real-time polymerase chain reaction （Real-time PCR） was used to measure the mRNA expression of the 5-HT1A receptor （5-HT1AR） and 5-HT2A receptor （5-HT2AR）. Differences in gut microbiota among the groups were assessed using 16S rRNA sequencing， and the correlation between the 5-HT system and microbiota was revealed using redundancy analysis. ResultCompared with the normal group， the model group showed a prolonged sleep latency （P<0.05）， reduced sleep maintenance （P<0.01）， decreased central area activity time in the open field （P<0.01）， and reduced sugar preference rate （P<0.05）. Moreover， the model group also showed decreased levels of 5-HT， 5-HIAA， TPH， and MAO-A （P<0.01）， decreased 5-HIAA/5-HT ratio （P<0.01）， downregulated mRNA expression of 5-HT1AR （P<0.01）， and upregulated mRNA expression of 5-HT2AR （P<0.05）. The proportion of Firmicutes decreased， while that of Bacteroidetes increased， leading to a decreased Firmicutes/Bacteroidetes （F/B） ratio （P<0.05）. Compared with the model group， the high-dose Huanglian Ejiaotang group exhibited a shortened sleep latency （P<0.01）， and increased sleep maintenance （P<0.01）. The low-dose Huanglian Ejiaotang group showed increased central area activity time （P<0.01） and an increased sugar preference rate （P<0.05）. The high-dose Huanglian Ejiaotang group exhibited increased levels of 5-HT， 5-HIAA， TPH， and MAO-A （P<0.01）， increased 5-HIAA/5-HT ratio （P<0.05）， upregulated mRNA expression of 5-HT1AR （P<0.01）， and downregulated mRNA expression of 5-HT2AR （P<0.05）. The low-dose Huanglian Ejiaotang group displayed an increased proportion of Firmicutes and a decreased proportion of Bacteroidetes， resulting in an increased F/B ratio. At the phylum level， 5-HT， 5-HIAA， and MAO-A were positively correlated with Firmicutes and negatively correlated with Bacteroidetes. At the genus level， 5-HT， 5-HIAA， TPH， and MAO-A were negatively correlated with Prevotella and Lactobacillus and positively correlated with Blautia and Bacteroides. ConclusionHuanglian Ejiaotang can improve sleep deprivation-induced insomnia and depressive-like behavior by regulating the activity of the 5-HT system and the composition of gut microbiota.