Objective:To evaluate the efficacy and safety of spesolimab in the treatment of generalized pustular psoriasis (GPP) .Methods:Six patients with GPP were retrospectively collected from Nanjing Drum Tower Hospital from February 2024 to April 2024, including 2 males and 4 females, aged 16 - 50 years. Four patients had a history of plaque psoriasis. Before treatment, the GPP Area and Severity Index (GPPASI) scores of the patients ranged from 24.6 to 60.8 points, and their GPP Physician Global Assessment (GPPGA) scores ranged from 2 to 4 points. All the 6 patients were intravenously injected with a single dose of 900 mg of spesolimab. Their GPPASI and GPPGA scores were recorded at weeks 1, 4, and 12, and adverse reactions were monitored during the treatment and follow-up.Results:Twenty-four hours after treatment, pustules were markedly reduced in the 6 patients with GPP; at week 1, pustules completely subsided, but erythema persisted; at week 4, both GPPASI and GPPGA scores decreased to 0 points; at week 12, no recurrence was observed. The patients with comorbid hypertension (4 cases), diabetes (1 case), or kidney disease (2 cases) maintained stable pressure or blood glucose levels, or showed improved renal function during the treatment and follow-up. Two patients experienced a transient fever after the treatment with spesolimab, resolving spontaneously after 2 days; two other patients exhibited exacerbation of plaque psoriasis. During the 12-week follow-up, none of the 6 patients experienced serious adverse reactions such as infections.Conclusion:In this study, spesolimab demonstrated rapid-onset efficacy and favorable safety in the treatment of GPP; conventional-dose spesolimab seemed safe for GPP patients with kidney disease.

Objective:To evaluate the efficacy and safety of spesolimab in the treatment of generalized pustular psoriasis (GPP) .Methods:Six patients with GPP were retrospectively collected from Nanjing Drum Tower Hospital from February 2024 to April 2024, including 2 males and 4 females, aged 16 - 50 years. Four patients had a history of plaque psoriasis. Before treatment, the GPP Area and Severity Index (GPPASI) scores of the patients ranged from 24.6 to 60.8 points, and their GPP Physician Global Assessment (GPPGA) scores ranged from 2 to 4 points. All the 6 patients were intravenously injected with a single dose of 900 mg of spesolimab. Their GPPASI and GPPGA scores were recorded at weeks 1, 4, and 12, and adverse reactions were monitored during the treatment and follow-up.Results:Twenty-four hours after treatment, pustules were markedly reduced in the 6 patients with GPP; at week 1, pustules completely subsided, but erythema persisted; at week 4, both GPPASI and GPPGA scores decreased to 0 points; at week 12, no recurrence was observed. The patients with comorbid hypertension (4 cases), diabetes (1 case), or kidney disease (2 cases) maintained stable pressure or blood glucose levels, or showed improved renal function during the treatment and follow-up. Two patients experienced a transient fever after the treatment with spesolimab, resolving spontaneously after 2 days; two other patients exhibited exacerbation of plaque psoriasis. During the 12-week follow-up, none of the 6 patients experienced serious adverse reactions such as infections.Conclusion:In this study, spesolimab demonstrated rapid-onset efficacy and favorable safety in the treatment of GPP; conventional-dose spesolimab seemed safe for GPP patients with kidney disease.

Objective To analyze the infection and drug resistance of Ureaplasma urealyticum(UU),Mycoplasma hominis(MH)and Chlamydia trachomatis(CT)in 2324 patients,and to provide reference for the prevention and treatment of nongonococcal infections in urogenital tract.Methods A retrospective analysis was conducted on the clinical data of 2324 patients diagnosed and treated at Nanjing Drum Tower Hospital,Affiliated Hospital of Nanjing University Medical School from February 2021 to April 2022.UU and MH were detected by liquid culture method and drug sensitivity tests were carried out,and CT was detected by latex method,and the results were statistically analyzed.Results A total of 1006 positive patients were detected,with a total positive rate of 43.3％.The positive rate in female patients significantly higher than that in male patients(x2=68.888,P＜0.001).Among them,the positive detection rates of UU,MH and CT were 40.8％,10.0％and 1.8％respectively.Among patients with single infection,the UU positive detection rate was the highest(31.8％).The positive rate of UU in female patients was significantly higher than that in male patients(x2=70.417,P＜0.001).Among patients with mixed infections,the positive detection rate of UU+MH was the highest(8.2％).The age groups with the highest positive rates of UU,MH and CT were 41-50 years old,≤ 20 years old and 21-30 years old respectively.Results of drug sensitivity test showed that mycoplasma were highly sensitive to doxycycline,minocycline and josamycin,with the sensitivity rates of 97.2％,96.9％and 95.4％respectively.Conclusion Young and middle-aged people are the main population with nongonococcal infection in urogenital tract.UU is the main pathogen detected,and the detection rate of female is higher than that of male.According to the drug sensitivity results of mycoplasma,it is suggested to choose doxycycline,minocycline and josamycin for treatment.

Objective To analyze the infection and drug resistance of Ureaplasma urealyticum(UU),Mycoplasma hominis(MH)and Chlamydia trachomatis(CT)in 2324 patients,and to provide reference for the prevention and treatment of nongonococcal infections in urogenital tract.Methods A retrospective analysis was conducted on the clinical data of 2324 patients diagnosed and treated at Nanjing Drum Tower Hospital,Affiliated Hospital of Nanjing University Medical School from February 2021 to April 2022.UU and MH were detected by liquid culture method and drug sensitivity tests were carried out,and CT was detected by latex method,and the results were statistically analyzed.Results A total of 1006 positive patients were detected,with a total positive rate of 43.3％.The positive rate in female patients significantly higher than that in male patients(x2=68.888,P＜0.001).Among them,the positive detection rates of UU,MH and CT were 40.8％,10.0％and 1.8％respectively.Among patients with single infection,the UU positive detection rate was the highest(31.8％).The positive rate of UU in female patients was significantly higher than that in male patients(x2=70.417,P＜0.001).Among patients with mixed infections,the positive detection rate of UU+MH was the highest(8.2％).The age groups with the highest positive rates of UU,MH and CT were 41-50 years old,≤ 20 years old and 21-30 years old respectively.Results of drug sensitivity test showed that mycoplasma were highly sensitive to doxycycline,minocycline and josamycin,with the sensitivity rates of 97.2％,96.9％and 95.4％respectively.Conclusion Young and middle-aged people are the main population with nongonococcal infection in urogenital tract.UU is the main pathogen detected,and the detection rate of female is higher than that of male.According to the drug sensitivity results of mycoplasma,it is suggested to choose doxycycline,minocycline and josamycin for treatment.

Objective To explore the effect of the physician-nurse-social worker linkage rehabilitation model on the psychological status in patients receiving methadone maintenance treatment(MMT).Methods Ninety-four patients who received MMT were enrolled and randomly divided into experimental group(n = 48)and control group(n = 46).The experimental group received physician-nurse-social worker linkage rehabilitation model intervention,while the control group received conventional methadone treatment service.The anxiety,depression and quality of life of the two groups were evaluated before the intervention,3 months and 6 months after the intervention.Results After 6 months of physician-nurse-social worker linkage rehabilitation mode intervention,the depression status and the anxiety status of the experimental group subjects were significantly improved compared with those before intervention,and both BDI and BAI scores were significantly lower than those of the control group subjects(P＜0.05).Moreover,the proportion of"had depression"and"had anxiety"in the experimental group were significantly lower than those in the control group(P＜0.05).After 6 months of intervention,the QOL-DA score of the experimental group subjects(183.77±8.90)was significantly higher than that of the control group sub-jects(174.76±11.14)(P＜0.01).Conclusion The physician-nurse-social worker linkage rehabilitation model had certain advantages in improving the psychological state of MMT patients,which is worthy of promotion.

Objective:To summarize the management experience of helicopter medical transport in patients with critical heart disease, so as to provide reference for transport of patients with critical heart disease under the background of major natural disasters.Methods:The clinical and transport data of 36 critically ill cardiac patients in Fuwai Central China Cardiovascular Hospital from 16:30 on July 21 to 19:30 on July 22, 2021 due to historically rare heavy rainstorms were collected. All 36 critically ill cardiac patients were transported by helicopter. The safe transportation was implemented under the measures of quickly forming a transport leadership and coordination group, clarifying responsibilities and division of labor, doing a good job in the pretreatment of the patient's condition, pipeline assessment and mechanical circulation support (MCS) equipment, simulating and practicing the transfer process, improving the safety of the transfer implementation process, and effectively handing over with the target hospital. The gender, age, disease type, MCS, transport and outcome of patients were collected.Results:Thirty-six patients with cardiac critical illness were from adult extracardiac intensive care unit (ICU), adult cardiac care unit (CCU), children's CCU, comprehensive ICU and department of neurology. There were 24 males and 12 females; age (50.93±20.86) years old. There were 12 patients using respirator, 7 patients needing MCS, 2 of whom needed both extracorporeal membrane oxygenation (ECMO) and intra-aortic balloon pump (IABP), and 7 patients with post-cardiac surgery. The total distance of transportation of 36 patients was 1 638.4 km, the transit time was 10.5 hours, one way flight time of helicopter was about 8 minutes, and the average transport time per patient was about 17.5 minutes. The vital signs of 36 patients during transport were basically stable, without complications, and all of them reached the target hospital safely.Conclusion:Under the seamless connection of the rapid establishment of the transfer leadership coordination group, assessment of the patient's condition and pretreatment, the simulation of the transfer process, and the effective handover with the receiving hospital, the use of helicopter for medical transport for critically ill heart patients is feasible and safe, which can buy valuable time for saving patients' lives and further treatment.

Objective:To investigate the predictive value of dynamic platelet and hemagglutination-related parameters in patients with acute pancreatitis (AP).Methods:The patients admitted to the Department of Emergency Surgery in the First Affiliated Hospital of Zhengzhou University from January 2020 to December 2020 were analyzed. According to the inclusion criteria and exclusion criteria, patients with AP were retrospectively enrolled. According to the Chinese Guidelines for the Diagnosis and Treatment of Acute Pancreatitis (Shenyang, 2019), the patients were divided into two groups: severe acute pancreatitis (SAP group) and non-severe acute pancreatitis (non-SAP group) [including mild acute pancreatitis (MAP) and moderate severe acute pancreatitis (MSAP)]. A normal distribution of the maximum and mean aggregation rates of dynamic platelets (arachiidonic acid), plateletcrit (PCT) and bedside index for severity in acute pancreatitis (BISAP) scores and other measurement data were tested by t test, while measurement data of prothrombin time (PT), fibrinogen (FIB) and D-dimer that did not conform to normal distribution were tested by Mann-Whitney U test. χ 2 test was used for the counting data such as sex, age and etiology of patients in the two groups. The prognostic value of statistically significant indicators for non-SAP group and SAP group was further analyzed by receiver operating characteristic (ROC) curve. Results:A total of 146 patients with AP were enrolled, including 50 patients in SAP group and 96 in non-SAP group. The maximum and average aggregation rates of dynamic platelet (aracidonic acid) in the SAP group were (71.76±17.62) % and (67.91±18.10) %, PT (12.02±1.33) s, FIB (4.76±2.08) g/L, D-dimer (3.75±6.04) μg/L, PCT (0.23±0.08) %, and BISAP scores (1.42±1.18), which were all significantly higher than those in the non-SAP group [the maximum and average aggregation rates of dynamic platelet (arachiidonic acid) (46.65±20.11) % and (42.50±20.71) %, PT (11.50±1.51) s and FIB (3.91±1.48) g/L, D-dimer (1.00±1.37) μg/L, PCT (0.19±0.06) %, BISAP scores (0.45±0.66)] (all P<0.05). According to area under the ROC curve, the maximum and average aggregation rates of dynamic platelets (arachiidonic acid) in serum of patients with SAP were 0.83 and 0.82, respectively, and the sensitivities were 0.56 and 0.68, respectively. The specificity was 0.99 and 0.81, respectively, which was better than PT, FIB, D-dimer, PCT and BISAP scores in predicting the severity of AP. Conclusions:The maximum and average aggregation rates of dynamic platelets (arachidonic acid), PT, FIB, D-dimer, PCT and BISAP scores can be used as predictors of the severity of acute pancreatitis. The maximum and average aggregation rates of dynamic platelets (arachiidonic acid) were the best in predicting the severity of AP.

Objective:To summarize the diagnosis features of the prenatal genetic diagnosis of fetal renal cystic disease and to explore the clinical feasibility and significance of prenatal genetic diagnosis of congenital cystic nephrosis.Methods:A total of 25 fetuses with congenital renal cystic disease were examined via invasive prenatal diagnosis in Henan Provincial People's Hospital from June 2017 to September 2019. Amniotic fluid samples were extracted by amniocentesis. Chromosomal microarray analysis (CMA) were performed in 17 cases. In addition to CMA, the other 8 cases were analyzed by G-band karyotype. Whole exome sequencing (WES) was performed in 6 cases which got normal results by CMA and karyotype, and highly suspected as hereditary disease.Results:Of the 25 fetuses assessed, 4 cases (16.0%) pathogenic copy number variation (pCNV) were found, including 2 cases of 17q12 deletion, 1 case of 10p15.1p14 deletion and 1 case of 4q21.28q22.1 deletion(including PKD2 gene). There were 8 cases without chromosome abnormality by karyotype analysis. Six clinical WES analysis found NPHS1 gene c.1440+1 G>A and c.925G > T mutations were related to Finnish type congenital nephrotic syndrome in 1 case, PKD1 gene c.6878C>T mutation was related to autosomal dominant polycystic kidney disease (ADPKD) in 1 case, and there was no definitive mutation in 4 cases. Conclusions:CMA and next generation sequencing are powerful tools for accurate diagnosis, treatment and genetic counseling of fetal congenital renal cystic diseases. For congenital cystic nephropathy, genetic detection is helpful to clarify the etiology, and provide more exactly informations for prognosis evaluation, treatment and family genetic counseling.

OBJECTIVE: To provide genetic testing for two brothers with mental retardation and epilepsy. METHODS: Array comparative genomic hybridization (aCGH) was used to detect copy number variations in the two patients, their parents and maternal grandparents. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was utilized to delineate the deleted region in the pedigree. RESULTS: A 138 kb deletion in 15q11.2 region was detected by aCGH in both patients, which encompassed part of the UBE3A gene. MS-MLPA has narrowed down the region to exons 8 to 14 of the UBE3A gene. The same deletion was also found in their mother and grandfather. CONCLUSION The pathogenesis of this rare form of recurrent Angelman syndrome may be attributed to the partial deletion of maternal UBE3A gene.
Angelman Syndrome ; Comparative Genomic Hybridization ; DNA Copy Number Variations ; Female ; Gene Deletion ; Humans ; Male ; Sequence Deletion ; Ubiquitin-Protein Ligases

Objective: To explore the genetic basis for a fetus suspected for congenital nephrotic syndrome of Finland (CNF). Methods: Genomic DNA was extracted from peripheral and umbilical cord blood samples derived from both parents and the fetus. Potential variants were detected by using next-generation sequencing. Suspected variants were confirmed by Sanger sequencing. Results: The fetus was found to carry compound heterozygous variants c. 1440+ 1G>A and c. 925G>T of the NPHS1 gene, which were respectively inherited from its mother and father. Conclusion Identification of the compound heterozygous NPHS1 variants has enabled diagnosis of CNF in the fetus and genetic counseling for the affected family.