Objective To investigate the clinical manifestations,molecular genetics and gonadal pathol-ogy characteristics of patients with disorders of sex development(DSD),and to summarize the clinical experi-ence of identifying rare diseases from common symptoms.Methods The clinical data of 416 patients with DSD diagnosed and treated in the multidisciplinary center of DSD of Guangzhou Women and Children's Medical Cen-ter from May 2018 to August 2023 were retrospectively analyzed,summarized and discussed.Results Accord-ing to chromosome karyotype,416 cases of DSD were classified into three types:92 cases(22.1％)of abnormal sex chromosome karyotype,285 cases(68.5％)of 46,XY karyotype and 39 cases(9.4％)of 46,XX karyotype.Among the 92 patients with abnormal sex chromosome karyotype,59 cases were raised as males,18 cases(30.5％)complained of short penis with hypospadias and cryptorchidism.The most common karyotype was 45,X/46,XY(58 cases,63.0％).Among the 285 patients with 46,XY karyotype,238 cases were raised as males,and 63 cases(26.5％)complained of short penis and hypospadias;47 cases were raised as females,and 13 ca-ses(27.7％)complained of inguinal mass.A total of 216 patients with 46,XY karyotype were subjected to whole exome gene detection,and 155 cases(71.8％)were found to have molecular pathogenesis with the clinical phe-notype.Among the 39 patients with 46,XX karyotype,19 cases were raised as males,and 8 cases(42.1％)com-plained of short penis and hypospadias.In the 18 cases of gonad biopsy,17 cases showed testicular tissue in go-nads.Whole exome sequencing was performed in 14 cases.NR5A1 gene heterozygous mutation,SRY gene muta-tion and SOX3 gene mutation were found in 2 cases,respectively(14.3％).Twenty cases were raised as females,and 14 cases(70.0％)complained of clitoral hypertrophy.Gonad biopsy was performed in 8 cases,with 7 cases of ovotestis(87.5％)and 1 case of NR5A1 gene heterozygous mutation(14.3％).Conclusions The etiologies of DSD are complex and diverse,and the clinical manifestations are various,which can be manifested as hypospa-dias,micropenis,cryptorchidism and other common symptoms of the urinary system.Different etiologies have dif-ferent treatment options.Therefore,chromosome karyotype,molecular genetic testing and gonadal pathology can be used to clarify the cause of disease,especially for rare diseases,improve the detection rate,reduce the rate of missed diagnosis,and ensure reasonable treatment,especially sex selection.

Objective To observe the effects of ultrasound-guided modified obturator nerve block(ONB)combined with remazolam anesthesia on obturator nerve reflex(ONR)and postoperative recovery of patients with transurethral resection of bladder tumors(TURBT).Methods One hundred patients with bladder tumor admitted to Qinhuangd-ao Hospital from June 2019 to June 2021 were treated with TURBT.They were divided into conventional group(in-traspinal anesthesia+traditional ONB anesthesia)and ultrasound group(intraspinal anesthesia+improved ONB combined with remidazolam anesthesia under ultrasound guidance)with 50 cases in each according to different ONB methods.Perioperative indexes,hemodynamic indexes at different time points,intraoperative ONR occur-rence,complications and adverse anesthesia reactions were compared between the two groups.Results Compared with conventional group,ONB time,operation time,catheter indwelling time and hospital stay were shortened,and intraoperative blood loss was decreased in ultrasound group(P＜0.05).Compared with the conventional group at 30 min after administration(T1)and at the end of operation(T2),the mean arterial pressure(MAP)and oxygen saturation(SaO2)were increased in the ultrasound group(P＜0.05).Compared with the convention-al group,the incidence of ONR and bladder bleeding was decreased,and the incidence of postoperative bradycar-dia,nausea and vomiting were decreased in the ultrasound group(P＜0.05).Conclusions Ultrasound-guided modified ONB combined with remazolam anesthesia can effectively improve perioperative indexes of TURBT,re-duce intraoperative ONR and bladder bleeding,and have little influence on hemodynamics with few postoperative adverse anesthesia reactions.

Objective:To observe the predictive value of serum LP-PLA2, PAPP-A and C-peptide for patients with diabetes (GDM) patients during pregnancy.Methods:From Jan.2018 to Jan. 2022, 400 patients with gestational diabetes mellitus (GDM group) and 400 healthy pregnant women who underwent prenatal examinations (control group) were enrolled. The serum prenatal lipoprotein-associated phospholipase A2 (Lp-PLA2) , pregnancy-associated plasma protein-A (PAPP-A) , C-peptide and neonatal blood glucose levels were compared between the two groups. The correlation of serum Lp-PLA2, PAPP-A and C-peptide with neonatal hypoglycemia in GDM patients was analyzed, and the value of area under receiver operating curve (ROC) for predicting neonatal hypoglycemia was analyzed.Results:The serum levels of Lp-PLA2, PAPP-A and C-peptide in the GDM group were higher than those in the control group (33.57±6.52 nmol/min/ml vs 23.45±4.38 nmol/min/ml, 26.72±4.79 ng/ml vs 23.57±3.08 ng/ml, 27.32±3.97 ng/mL vs 25.15±0.71 ng/mL) ( P<0.05) . The incidence of neonatal hypoglycemia in the GDM group was higher than that in the control group (16.0% vs 4.5%) ( P<0.05) .The serum levels of Lp-PLA2, PAPP-A and C-peptide in GDM patients with neonatal hypoglycemia were higher than those in neonatal normoglycemic patients (35.82±6.42 nmol/min/ml vs 32.29±6.03 nmol/min/ml, 27.72±4.21 ng/ml vs 25.35±3.98 ng/ml, 32.39±4.78 ng/mL vs 22.18±3.94 ng/mL) ( P<0.05) . Logistic regression analysis showed that high levels of serum Lp-PLA2, PAPP-A and C-peptide in the GDM group were independent risk factors for neonatal hypoglycemia. Serum Lp-PLA2, PAPP-A and C-peptide of GDM patients had certain predictive value for the occurrence of neonatal hypoglycemia, among which C-peptide had the greatest predictive value. Conclusion:High levels of serum Lp-PLA2, PAPP-A and C-peptide are independent risk factors for neonatal hypoglycemia in GDM patients, and have certain predictive value, which can provide a reference for clinical prediction of its occurrence.

Objective:Analysis of influencing factors of enteral nutrition interruption in critically ill patients in general surgery department and its impact on prognosis.Methods:A total of 91 cases of critically ill patients in general surgery department were selected who were admitted to the general surgery of General Hospital of Eastern Theater Command of the Chinese People′s Liberation Army in Nanjing from June 2021 to March 2022 by convenient sampling method, demographic and enteral nutrition interruption data were collected,and patients were divided into enteral nutrition interruption group and enteral nutrition uninterrupted group to investigate the analysis of the factors of affecting enteral nutrition interruption and its impact on prognosis by Logistic regression analysis.Results:There were 59 cases in the enteral nutrition interruption group and 32 cases in the enteral nutrition uninterrupted group. There were statistically significant differences in gender, analgesic and sedatives, Gastro-kinetic agent and feeding intolerance between both groups ( χ2 values were 4.51-9.97, all P<0.05). Logistic regression analysis results showed that gender ( OR=4.566, 95%CI 1.332-15.657, P<0.05), analgesic and sedatives ( OR=3.437, 95%CI 1.112-10.621, P<0.05), and feeding intolerance ( OR=4.116, 95%CI 1.257-13.479, P<0.05) were the factors of enteral nutrition interruption. There were statistically significant differences between the two groups in the number of days of enteral nutrition up to goal in 3 days, 3-7 days and 7 days, albumin,length of stay in intensive care unit, total length of stay and hospitalization expenses between both groups ( Z values were -2.80 - -0.73, all P<0.05). Conclusions:Female, analgesic and sedatives and feeding intolerance are the risk factors of enteral nutrition interruption in critically ill patients in general surgery department, and enteral nutrition interruption has an adverse impact on the prognosis.Medical staff should avoid excessive use of analgesic and sedatives, and do well in feeding tolerance management to reduce the occurrence of enteral nutrition interruption.

Objective:To evaluate the effects of dexmedetomidine on alveolar epithelial barrier function in rats with ventilator-induced lung injury (VILI), and the role of protein kinase C (PKC).Methods:One hundred clean-grade male Sprague-Dawley rats, weighing 270-320 g, aged 4-5 months, were divided into 5 groups ( n=20 each) using a random number table method: control group (group C), VILI group (group V), PKC inhibitor group (group B), dexmedetomidine group (group D), and dexmedetomidine plus PKC agonist group (DP group). The VILI model was developed by mechanical ventilation with a tidal volume of 40 ml/kg for 4 h in anesthetized animals.Group C breathed air autonomously for 4 h without mechanical ventilation.Group V was mechanically ventilated for 4 h. In group B, bisindolvlmaleimide I 0.12 mg/kg was injected intramuscularly 1 h before mechanical ventilation.In D and DP groups, dxmedetomidine 5.0 μg/kg was injected intravenously at 20 min before mechanical ventilation, and dexmedetomidine was intravenously infused at the rate of 5.0 μg·kg -1·h -1 during mechanical ventilation.In group DP, PKC agonist phorbol-12-myristic acid-13-acetate 15 μg/kg was intraperitoneally injected at 30 min before mechanical ventilation.At 4 h of mechanical ventilation, oxygenation index (OI), lung permeability index (LPI) and wet/dry lung weight (W/D) ratio were measured, the pathological changes of lung tissues were observed, and lung injury was assessed and scored.The expression of PKC, occludin and ZO-1 protein was detected by Western blot, and the expression of PKC mRNA, occludin mRNA and ZO-1 mRNA was determined by real-time polymerase chain reaction. Results:Compared with group C, OI was significantly decreased, LPI, W/D ratio and lung injury score were increased, the expression of PKC protein and mRNA was up-regulated, and the expression of occludin and ZO-1 protein and mRNA was down-regulated in V and DP groups ( P<0.05), and no significant change was found in the parameters mentioned above in B and D groups ( P>0.05). Compared with group V, OI was significantly increased, LPI, W/D ratio and lung injury score were decreased, the expression of PKC protein and mRNA was down-regulated, and the expression of occludin and ZO-1 protein and mRNA was up-regulated in B, D and DP groups ( P<0.05). Compared with group D, OI was significantly decreased, LPI, W/D ratio and lung injury score were increased, the expression of PKC protein and mRNA was up-regulated, and the expression of occludin and ZO-1 protein and mRNA was down-regulated in group DP ( P<0.05). Conclusions:Dexmedetomidine can reduce the damage to alveolar epithelial barrier function in rats with VILI, and the mechanism is related to inhibition of PKC activation and up-regulation of the expression of occludin and ZO-1.

Objective:To evaluate the role of transient receptor potential vanilloid receptor 1 (TRPV1)/nuclear factor-κB (NF-κB) signaling pathway in dexmedetomidine-induced alleviation of ventilator-induced lung injury (VILI) in rats.Methods:One hundred clean-grade healthy male Sprague-Dawley rats, weighing 270-320 g, aged 4-5 months, were divided into 5 groups ( n=20 each) using a random number table method: control group (group C), VILI group (group V), AMG9810 group (group A), dexmedetomidine group (group D), and dexmedetomidine + RTX group (group DR). VILI model was prepared by mechanical ventilation with a tidal volume of 40 ml/kg for 4 h. In group A, TRPV1 inhibitor AMG9810 30 mg/kg was intraperitoneally injected at 1 h before mechanical ventilation.Dexmedetomidine 5.0 μg/kg was intravenously infused at 20 min before mechanical ventilation, and dexmedetomidine was intravenously infused at the rate of 5.0 μ g·kg -1·h -1 during ventilation in group D and group DR.In group DR, RTX 70 μ g/kg was intraperitoneally injected for 3 consecutive days before mechanical ventilation.At 4 h of mechanical ventilation, the concentrations of interleukin-1beta (IL-1β), tumor necrosis factor-alpha (TNF-α) and IL-6 in bronchoalveolar lavage fluid (BALF) were detected, oxygenation index (OI) and wet/dry lung weight (W/D) ratio were measured, the histopathological changes of lung tissues were observed, and lung injury was assessed and scored.The expression of TRPV1 and NF-κB in lung tissues was detected by Western blot, and real-time polymerase chain reaction was used to detect the expression of TRPV1 and NF-κB mRNA. Results:Compared with group C, the concentrations of IL-1β, TNF-α and IL-6 in BALF were significantly increased, OI was decreased, the W/D ratio and lung injury scores were increased, and the expression of TRPV1 and NF-κB protein and mRNA was up-regulated in group V ( P<0.05). Compared with group V, the concentrations of IL-1β, TNF-α and IL-6 in BALF were significantly decreased, OI was increased, the W/D ratio and lung injury scores were decreased, and the expression of TRPV1 and NF-κB protein and mRNA was down-regulated in A, D and DR groups ( P<0.05). Compared with group D, the concentrations of IL-1β, TNF-α and IL-6 in BALF were significantly increased, OI was decreased, the W/D ratio and lung injury scores were increased, and the expression of TRPV1 and NF-κB protein and mRNA was up-regulated in group DR ( P<0.05). Conclusions:The mechanism by which dexmedetomidine alleviates VILI is partially related to inhibition of the activation of TRPV1/NF-κB signaling pathway and inhibition of the inflammatory responses in lung tissues of rats.

Objective:To summarizes the evidence of oral and nasal care for adult inpatients during nasal tube feeding and provide reference for clinical implementation.Methods:The relevant evidence on oral and nasal care of adult patients with nasal feeding were systematically searched on UpToDate, Joanna Briggs Institute (JBI) Evidence-based Healthcare Center, National Guideline Clearinghouse, National Institute for Health and Clinical Excellence, Medlive.cn, Cochrane Library, PubMed, Embase, Web of Science, China National Knowledge Infrastructure, Wanfang database and other databases and guideline websites. The retrieval period was from January 1, 2016 to August 28, 2020. After the methodological quality evaluation of the included clinical practice guidelines, expert consensus, systematic evaluation, clinical decision-making and evidence summary, the literature that met the standards was extracted and the evidence was summarized according to the professional clinical judgment of the researchers.Results:A total of 13 literatures were included, including 1 guideline, 2 expert consensus, 3 systematic evaluation, 2 clinical decision making and 5 evidence summaries. After sorting out, 16 best evidences were summarized from 4 aspects such as professional training of nursing staff, factors affecting oral and nasal hygiene, assessment and nursing of nasal, assessment and nursing of oral.Conclusions:Through the standardized evidence collection and formulation method, this paper summarizes the relevant evidence of oral and nasal nursing for patients with enteral nutrition through nasal tube feeding from 4 aspects. Medical staff should strengthen the training of professionals, find out the factors affecting the oral and nasal health of adult inpatients undergoing nasal tube feeding as soon as possible and take effective measures to evaluate and care the patients' oral and nasal cavity according to the best evidence.

Objective:To evaluate the effect of dexmedetomidine on the extracellular signal-regulated kinase(ERK)/sodium-potassium ATPase(Na + -K + -ATPase)signaing pathway in lung tissues of rats with mechanical ventilation-induced lung injury (VILI). Methods:Forty-eighty clean-grade male Sprague-Dawley rats, weighing 270-320 g, aged 4-5 months, were divided into 4 groups ( n=12 each) using a random number table method: control group (group C), VILI (alpha2-adrenergic receptor antagonist) group (group V), dexmedetomidine group (group D), and dexmedetomidine plus yohimbine group (group DY). Group C underwent no mechanical ventilation and breathed air spontaneously for 4 h. Mechanical ventilation (respiratory rate 40 breaths/min, tidal volume 40 ml/kg, inspiratory/expiratory ratio 1∶1, PEEP 0, fraction of inspired oxygen 21%) lasted 4 h in group V. Dexmedetomidine was infused intravenously in a dose of 5.0 μg/kg at 20 min before ventilation followed by an infusion of 5.0 μg·kg -1· h -1 throughout ventilation in group D. In group DY, yohimbine 0.1 mg/kg was injected intravenously at 10 min before dexmedetomidine, and the other treatments were similar to these previously described in group D. Blood samples and lung tissues were taken at 4 h of mechanical ventilation to determine the wet/dry weight ratio (W/D ratio), lung permeability index (LPI), alveolar fluid clearance rate (AFC), and expression of extracellular signal-regulated kinase (ERK), phosphorylated extracellular signal-regulated kinase (p-ERK), and Na + -K + -ATPase in lung tissues (by Western blot) and to observe pathological changes of lung tissues. Results:Compared with group C, LPI and W/D ratio were significantly increased, AFC was decreased, p-ERK expression was up-regulated, and Na + -K + -ATPase expression was down-regulated in group V and group DY ( P<0.05), and no significant change was found in the incidence of the parameters mentioned above in group D ( P>0.05). Compared with group V, LPI and W/D ratio were significantly decreased, AFC was increased, p-ERK expression was down-regulated, Na + -K + -ATPase expression was up-regulated ( P<0.05), and the pathological changes of lung tissues were significantly attenuated in group D, and no significant change was found in the incidence of the parameters mentioned above in group DY ( P>0.05). Compared with group D, LPI and W/D ratio were significantly increased, AFC was decreased, p-ERK expression was up-regulated, Na + -K + -ATPase expression was down-regulated ( P<0.05), and the pathological changes of lung tissues were accentuated in group DY. Conclusion:The mechanism by which dexmedetomidine alleviates VILI may be related to activating alpha2-adrenergic receptors and inhibiting ERK/Na + -K + -ATPase signaling pathway in rats.

Intra-abdominal hypertension can reduce the perfusion of the mesenteric artery, block venous return and reduce gastrointestinal function due to intestinal edema. And the delay of intestinal emptying can easily cause intestinal edema, which further increases intra-abdominal pressure and forms a vicious circle. Nutritional support plays an important role in treatment of severe patients with abdominal hypertension, as people have a deeper understanding of the importance of central organ of the intestinal stress response and the function of the intestinal barrier. This paper summarizes the implementation of enteral nutrition management for severe patients with abdominal hypertension, implements the standardized process of enteral nutrition implementation, evaluates nutritional risks, calculates target calorie intake and dynamically monitors intra-abdominal pressure, so as to ensure safety and effectiveness of patients in the process of nutritional support and to improve nutritional indexes and prognosis.

Objective: To evaluate the effect of ATP-binding cassette B subfamily member 1 transporter (ABCB1) C3435T genetic polymorphism on the efficacy of postoperative analgesia. Methods: One hundred American Society of Anesthesiologists physical status Ⅱ or Ⅲ patients, aged 18-60 yr, scheduled for elective thoracoscopic lobectomy under general anesthesia, were enrolled in this study.The gene mutation of ABCB1 C3435T was detected, and the patients were divided into 3 groups according to the genotypes: wild homozygote group (CC group), mutation heterozygote (CT group) and mutation homozygote group (TT group). Patient-controlled intravenous analgesia was performed with sufentanil after operation.Visual analogue scale (VAS) scores at 24 and 48 h after operation, postoperative consumption of sufentanil, sleep quality score at 24 h after operation and state-trait anxiety score were recorded. Results: Compared with CC group, VAS scores at 24 h after operation and postoperative consumption of sufentanil were significantly decreased in TT and CT groups, and the state-trait anxiety score was significantly decreased in TT group and increased in CT group (P<0.05). Compared with TT group, VAS scores at 24 h after operation, postoperative consumption of sufentanil and the state-trait anxiety score were significantly increased in CT group (P<0.05). There was no significant difference in sleep quality scores among the three groups (P>0.05). Conclusion ABCB1 C3435T genetic polymorphism may be one of the mechanisms of the individual variation in the efficacy of postoperative analgesia.