Objective:To explore the clinical phenotype and genetic etiology for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease (ADPKD).Methods:A pedigree with ADPKD diagnosed at the Department of Gynaecology of the First Affiliated Hospital of Zhengzhou University in December 2020 was selected as the study subject. Clinical data of the pedigree was collected, and whole exome sequencing (WES) was carried out for the proband. Candidate variants were verified by Sanger sequencing of the proband and her relatives. This study was approved by the First Affiliated Hospital of Zhengzhou University (Ethics No. KS-2018-KY-36).Results:Fetal ultrasonography showed increased volume and parenchymal echogenicity in both kidneys. The fetus was found to harbor c. 11098C>T (p.R3700C) and c.11039T>C (p.F3680S) compound heterozygous variants of the PKD1 gene, which were respectively inherited from its mother and father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be likely pathogenic (PM1+ PM2_Supporting+ PP3). Conclusion:The c. 11098C>T (p.R3700C) and c. 11039T>C (p.F3680S) compound heterozygous variants of the PKD1 gene probably underlay the ADPKD in the fetus. Above finding has provided guidance for the genetic counseling and prenatal diagnosis for this pedigree.

Objective To investigate the effectiveness of applying the CIPP(Context,Input,Process,and Product)model in the training of general workers in a disinfection supply center.Methods From January to March 2023,a total of 24 general workers in our hospital's disinfection supply center underwent traditional training as the pre-management phase.Subse-quently,from July to September 2023,a training system centered on the CIPP model was implemented as the post-management phase.After the training,the examination results and training evaluations were analyzed using SPSS 13.0 statistical software.Results The technical training of the general workers resulted in improved learning outcomes compared to before the training.Conclusion By applying the CIPP model in the training of general workers in a disinfection supply center,their grasp of basic knowledge and professional skills can be enhanced.This can reduce technical errors during operations,improve the quality of sterile items,and reduce the risk of nosocomial infections,thereby ensuring patient safety.

The routes of immunization largely determine the features of vaccine-induced immune responses. This paper mainly reviewed the immune responses and protective efficacy induced by mucosal immunization and intramuscular injection of vaccines against poliovirus, Salmonella typhi, influenza virus and SARS-CoV-2 and compared the differences between different immunization routes, with the goal of providing some fundamental theoretical data for the development of vaccines and vaccination strategies against infectious diseases.

Objective:To investigate the relationship between serum 25 hydroxyvitamin-D3, soluble advanced glycation end product receptor (sRAGE), nucleotide binding oligomerization domain like receptor 3 (NLRP3) mRNA and cognitive impairment in hypertensive intracerebral hemorrhage (HICH).Methods:143 patients with HICH treated in the Affiliated Hospital of Guangdong Medical University from July 2016 to July 2019 were selected as the research objects. Among the 143 patients with HICH, there were 68 patients with cognitive impairment (cognitive impairment group) and 75 patients without cognitive impairment (control group). The age, gender, amount of intracerebral hemorrhage, bleeding site, blood pressure, blood glucose and blood lipid of the two groups were counted, and the mRNA levels of 25 hydroxyvitamin-D3, sRAGE and NLRP3 were detected. Multivariate logistic regression analysis was used to analyze the risk factors of cognitive impairment in patients with HICH.Results:There were no significant differences in age, gender, smoking, education, bleeding site, diabetes rate, triglyceride (TG), total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), and high density lipoprotein cholesterol (HDL-C) between cognitive dysfunction group and control group ( P>0.05); There were significant differences in bleeding volume and neurological function defect score (NIHSS) score between cognitive impairment group and control group ( P<0.05); The level of 25 hydroxyvitamin-D3 in cognitive impairment group was lower than that in control group ( P<0.05), and the expression level of NLRP3 mRNA was higher than that in control group ( P<0.05). There was no significant difference in sRAGE between the two groups ( P>0.05); Logistic regression analysis showed that the decrease of 25-hydroxyvitamin-D3 level, the increase of bleeding volume and NIHSS score were independent risk factors for cognitive impairment in HICH patients ( P<0.05). Conclusions:Decreased serum 25 hydroxyvitamin-D3 levels may increase the risk of cognitive impairment in patients with HICH.

A case of ichthyosis follicularis,alopecia and photophobia syndrome caused by a novel mutation c.1165C＞T in the membrane-bound transcription factor protease site 2 (MBTPS2) gene was firstly reported.The proband presented with dry skin,congenital hairlessness,follicular keratotic papules,photophobia,epilepsy,and mental and motor retardation.Next-generation and Sanger sequencing analysis confirmed that the proband and his mother both had a c.1165C＞T (p.pro389Ser) mutation in exon 9 of the MBTPS2 gene.According to the clinical manifestations of the patient and genetic characteristics of the MBTPS2 gene mutation,the patient was diagnosed with ichthyosis follicularis,alopecia and photophobia syndrome.

Clinical features of and genetic mutations in two cases of pseudohypoparathyroidism type Ⅰ a(PHP Ⅰ a) with early-onset skin nodules were analyzed.Both of the two patients were males,and their ages at onset were 2 and 3 months respectively.They both presented with early-onset skin nodules as the main clinical manifestation,and were clinically characterized by a round face,short neck and early obesity.Histopathological examination of skin lesions showed subcutaneous ectopic osteogenesis in both patients.The first patient had low blood calcium,high blood phosphorus,high parathyroid hormone (PTH),and gene sequencing showed a heterozygous mutation c.399delT causing a T base deletion at position 399 in exon 5 of the GNAS gene.The second patient had normal blood calcium and phosphorus levels as well as normal PTH levels at early stage,and gene sequencing showed a heterozygous mutation c.939delT causing a T base deletion at position 939 in exon 9 of the GNAS gene.The blood PTH level was found to increase in the second patient after 1-year follow-up.Both the patients were confirmedly diagnosed with PHP Ⅰa.After treatment with vitamin D3,no new skin nodules occurred,and the blood calcium and phosphorus levels returned to normal.

Objective To analyze the clinical and biological characteristics of adult acute T-lymphocytic leukemia (T-ALL) patients carrying SET-NUP214 fusion gene,and the prognostic value of SET-NUP214 molecular marker monitoring.Methods The clinical and laboratory data of 4 adult T-ALL patients with SET-NUP214 fusion gene in the Third People's Hospital of Chengdu from January 2009 to December 2014 were analyzed retrospectively,and T cell receptor (TCR) gene rearrangement was detected to judge the differentiation and developmental stages of tumor cells in these patients.Minimal residual disease (MRD) was detected in 2 patients with follow-up specimens through detection of SET-NUP214 gene by using polymerase chain reaction.Results Four patients expressed T cell immune markers CD5,CD7,and cytoplasmic CD3 (cyCD3),and also expressed some myeloid-specific antigens.All 4 patients had the same SET-NUP214 fusion site.In the tumor cells of 4 patients,5 TCRB gene rearrangements were detected,all of which were incomplete rearrangement of DB-JB;4 patients were detected with TCRG and TCRD gene rearrangements,and all were completely rearranged.The result of MRD monitoring through SET-NUP214 fusion gene was consistent with clinical treatment outcome.Conclusions The T-ALL patients with SET-NUP214 fusion gene have some unique cell biological characteristics.SET-NUP214 fusion gene could be used as a molecular marker for MRD monitoring,and which can be used for the follow-up in the course of treatment.

A male patient, who was aged 3 months and 12 days, presented with well-circumscribed erythema and scales on the scrotum, perineum, buttocks and perianal region at 1 month after birth. The lesions gradually involved the perioral and axillary regions, flexor aspect of the elbow, popliteal fossa and neck. Shortness of breath, crying, dysphoria and vomiting occurred without fever and cough 3 days before hospitalization. Laboratory examinations at admission showed metabolic acidosis, hyperlactacidemia, hyperammonemia and organic aciduria. Second-generation sequencing and Sanger sequencing of the holocarboxylase synthetase gene revealed a known mutation c.1522C>T in exon 9 and a novel mutation c.1796_1814del in exon 11. According to a guideline from the American College of Medical Genetics and Genomics, this novel mutation was ranked as a pathogenic mutation. The patient was diagnosed as multiple carboxylase deficiency. His clinical symptoms were improved after oral biotin treatment, no neurological symptoms or signs were observed.

Objective To establish and assess the new method of APTT assay based on the combinations of Mg2+and Ca2+for lupus anticoagulants(LA)measurements.Methods This prospective study included 309 trisodium citrate anticoagulated plasma samples from 244 random patients and 65 patients with different autoimmune diseases(AID)to establish and assess the method of LA measurement, respectively.Final concentrations of 0,2.0, 4.0, 8.0,16.0 mmol/L Mg2+were added into 25 mmol/L Ca2+solution, and Actin reagent was used to measured plasma APTT of 94 patients.The applied concentration of Mg2+-Ca2+solution was confirmed through the special and significant alteration of APTT from LA-positive and -negative plasma observed in the presence of Mg 2+(test solution).Based on Actin reagent use,the test solution and 25 mmol/L Ca2+solution were applied to measure APTT of patients and normal individuals, respectively, and the ratio of Mg2+-Ca2+-APTT to Ca2+-APTT(Mg2+-Ca2+-APTT indices)and normalized Mg2+-Ca2+-APTT indices(NAR)were calculated, respectively.Mixed plasma NAR was measured,and CV%was calculated to evaluate the repeatability and stability of Mg 2+-Ca2+-APTT method.APTT of 150 patients was measured with the test solution and Actin reagent to calculate Mg 2+-Ca2+-APTT indices, and normalized LA ratio was determined with dRVVT method.The applicability of Mg2+-Ca2+-APTT assay was assessed through comparisons of the results from the two methods.Finally, NAR and NLR of 65 patients with AID(including 26 SLE patients)were measured with Mg2+-Ca2+-APTT assay and dRVVT method, respectively, and ROC curve was also used to assess the efficacy of the two methods for LA measurements.Results In all LA-negative plasma,APTT increased from 28.1 ±4.5 s to 61.2 ±7.9 s in normal APTT group,47.2 ±8.9 s to 97.5 ±10.3 s in increased APTT group,and 27.6 ± 5.1 s to 61.2 ±7.9 s in ACA-positive group when Mg2+increased from 0 to 8 mmol/L in Mg2+-Ca2+solution(F=34.12, 38.9 and 28.35,P<0.01).Following increased Mg2+concentration, APTT shortened from 0 to 4.0 mmol/L, but simultaneously prolonged from 4.0 to 16.0 mmol/L in LA-positive plasma with prolonged or normal APTT(F=31.55 and 39.51, P<0.01), and APTT was significantly higher in 8.0 mmol/L than that in 4.0 mmol/L(P<0.001).The test concentration of Mg 2+/Ca2+solution was 4.0 mmol/L.The within, inter-day CV% of NAR was 1.39%,2.30%, and 3.44%, respectively. According to the judging criteria of <0.966 and >1.034 of Mg2+/Ca2+indices, there was 141 patients with increased indices and NLR <1.20, and 9 patients with decreased ones and NLR≥1.20 in all 150 patients.The area under ROC curve of NAR and NLR for LA detection was 0.913(95%CI:0.848-0.978) and 0.892(95%CI:0.817-0.966), respectively, and the cut-off value was 0.87 and 1.13, respectively. The sensitivity and specificity of NAR(85% and 77%)was higher than that of NLR(81% and 74%), respectively.The accordant rate of positive,negative,and total results between NAR and NLR was 94.4%, 98.5%,and 98%,respectively.Conclusion The method of APTT assay based on Mg2+combining Ca2+for LA measurements is feasible,and can be used to detect plasma LA of patients.

Objective? To investigate the awareness of nutrition knowledge among colorectal cancer patients and to explore the effects of nutrition management on patients' nutrition. Methods? From January 2016 to December 2016, we selected 80 colorectal cancer inpatients of internal and surgical department of oncology in Xuzhou Central Hospital as subjects by convenience sampling. The self-designed nutritional knowledge questionnaire for colorectal cancer patients was used to investigate their awareness of nutrition knowledge. All of the patients were divided into observation group (n=40) and control group (n=40) with the random number table. Control group received routine nutrition guidance. Observation group carried out whole-course nutrition management. And then, the nutrition of patients in two groups was compared before and after intervention. Results? The awareness rate on nutrition knowledge of colorectal cancer patients was 60.0% (48/80). There were statistical differences in the awareness rate on nutrition knowledge among patients with different ages, education, family history of colorectal cancer, whether it was the first case and whether they received nutrition education (P＜ 0.05). Patients' total serum protein, serum albumin and hemoglobin of observation group were higher than those of control group; the score of nutrition risk screening-2002 (NRS 2002) of observation group was higher than that of control group; the differences were all statistical (P＜0.05). Conclusions? The awareness rate on nutrition knowledge of colorectal cancer patients is low. Strengthening nutrition management for patients will contribute to improving patients' nutrition and nutrition risk.