Objective:To explore the clinical characteristics and genetic etiology of a child with Neurofibromatosis-Noonan syndrome (NFNS).Methods:A child with NFNS who was treated at the Department of Endocrinology of Hangzhou Children′s Hospital in January 2024 was selected as the study subject. Clinical data of the child was collected by retrospective analysis method. Peripheral venous blood samples (2 mL each) were collected from the child and his parents. Genomic DNA was extracted, and trio whole exome sequencing (Trio-WES) of the family was carried out. Sanger sequencing was used to perform family verification on the candidate variants. The identified variants were classified for pathogenicity according to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG) (hereafter referred to as the " ACMG guidelines" ). This study has been approved by the Medical Ethics Committee of Hangzhou Children′s Hospital (Ethics No. 2021-06).Results:The child was a 7-year and 4-month-old male. He has short stature, numerous café-au-lait spots on the neck and trunk, and special facial features such as a full forehead, wide interpupillary distance, a low nasal bridge, and low-set ears.The results of Trio-WES showed that he has harbored a NF1 gene c. 3773G>T (p.W1258L) mutation, which was verified by Sanger sequencing to be de novo in origin. The NF1 gene child was associated with NFNS, which was an autosomal dominant inheritance. According to the ACMG guidelines, this variant was judged to be a likely pathogenic variant (PS2+ PM2+ PP3+ PP2). No pathogenic variant in genes associated with Noonan syndrome, such as those in PTPN11, SOS1, RAF1, RIT1, and KRAS, was found. Conclusion:The child with NFNS has clinical features such as short stature, special facial features, and café-au-lait spots. The c. 3773G>T (p.W1258L) variation in the NF1 gene may be the genetic etiology of the NFNS child in this study. The results of this study has enriched the variation spectrum of the NF1 gene.

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with Neurofibromatosis-Noonan syndrome (NFNS). METHODS: A child with NFNS who was treated at the Department of Endocrinology of Hangzhou Children's Hospital in January 2024 was selected as the study subject. Clinical data of the child was collected by retrospective analysis. Peripheral venous blood samples (2 mL each) were collected from the child and his parents. Genomic DNA was extracted, and trio-whole exome sequencing (Trio-WES) of the family was carried out. Sanger sequencing was used to perform family verification on the candidate variants. The identified variants were classified for pathogenicity according to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG) (hereafter referred to as the "ACMG guidelines"). This study has been approved by the Medical Ethics Committee of Hangzhou Children's Hospital (Ethics No. 2021-06). RESULTS: The child was a 7-year and 4-month-old male. He has short stature, numerous café-au-lait spots on the neck and trunk, and special facial features such as a full forehead, wide interpupillary distance, a low nasal bridge, and low-set ears. The results of Trio-WES showed that the he had harbored the NF1 gene c.3773G>T (p.W1258L) mutation, which was verified by Sanger sequencing to be de novo in origin. The NF1 gene was associated with NFNS, which has an autosomal dominant inheritance. According to the ACMG guidelines, this variant was judged to be a likely pathogenic variant (PS2+PM2+PP3+PP2). No pathogenic variant in genes associated with Noonan syndrome, such as PTPN11, SOS1, RAF1, RIT1, and KRAS, was found. CONCLUSION The child with NFNS has clinical features such as short stature, special facial features, and café-au-lait spots. The c.3773G>T (p.W1258L) variation in the NF1 gene may be the genetic etiology of the NFNS child in this study. The results of this study has enriched the variation spectrum of the NF1 gene.
Child ; Humans ; Male ; Exome Sequencing ; Mutation ; Neurofibromatosis 1/genetics* ; Neurofibromin 1/genetics* ; Noonan Syndrome/genetics*

AIM:To evaluate the effect of intrave-nous oxycodone administration at different timing on rebound pain following the resolution of inter-costal nerve blockade after thoracoscopic surgery.METHODS:A total of 114 patients undergoing elec-tive thoracoscopic surgery under general anesthe-sia between January and July 2024 were selected.The patients were aged 18 to 64 years,regardless of gender,with a BMI of 18 to 30 kg/m2,and classi-fied as ASA Ⅰ-Ⅱ.The patients were randomly divided into three groups using a random number table:control group(Group C),oxycodone administration at the end of surgery group(Group Q1),and oxyco-done administration 6 hours postoperatively group(Group Q2),with 38 patients in each group.Group C received a normal saline injection at the end of surgery,Group Q1 received an intravenous injec-tion of oxycodone 0.04 mg/kg at the end of sur-gery,and Group Q2 received an intravenous injec-tion of oxycodone 0.04 mg/kg at 6 hours postoper-atively.Patients in the three groups were treated with a postoperative intravenous self-control anal-gesic pump(PCIA).The occurrence of rebound pain was recorded,the time of the first analgesic pump press,the number of presses,the dosage of sufent-anil,and the need for rescue analgesia were also recorded.Numerical Rating Scale(NRS)scores at rest and during movement were recorded at 6,8,12,24,48 and 72 hours postoperatively.The Pitts-burgh Sleep Quality Index(PSQI)was used to as-sess the sleep quality of patients the night before surgery and for two nights postoperatively.Adverse reactions such as respiratory depression,postoper-ative nausea and vomiting(PONV),and pruritus were recorded.RESULTS:Compared with group C and Q1,the incidence of rebound pain,postopera-tive sufentanil consumption,effective compression frequency of PCIA from 0-24 hours after surgery,and the rate of rescue analgesia were lower in Groups Q2(P＜0.05);Compared to Group C,the NRS scores at rest and during movement at 8,12,and 24 hours postoperatively were significantly lower in Groups Q1 and Q2(P＜0.05).However,compared to Group Q1,Group Q2 exhibited lower NRS scores at rest and during movement at 8,12,and 24 hours postoperatively(P＜0.05).On the first postoperative night,the PSQI scores of patients in Group Q2 were significantly better than those in Groups C and Q1(P＜0.05).There was no statistical-ly significant difference in the incidence of PONV among the three groups(P＞0.05).No respiratory depression,drowsiness,or pruritus were observed postoperatively in any of the groups.CONCLUSION:Intravenous injection of 0.04 mg/kg oxycodone 6 hours after surgery can reduce the occurrence of rebound pain after intercostal nerve block resolu-tion in thoracoscopic surgery and improves pa-tients' sleep quality.

AIM:To evaluate the effect of intrave-nous oxycodone administration at different timing on rebound pain following the resolution of inter-costal nerve blockade after thoracoscopic surgery.METHODS:A total of 114 patients undergoing elec-tive thoracoscopic surgery under general anesthe-sia between January and July 2024 were selected.The patients were aged 18 to 64 years,regardless of gender,with a BMI of 18 to 30 kg/m2,and classi-fied as ASA Ⅰ-Ⅱ.The patients were randomly divided into three groups using a random number table:control group(Group C),oxycodone administration at the end of surgery group(Group Q1),and oxyco-done administration 6 hours postoperatively group(Group Q2),with 38 patients in each group.Group C received a normal saline injection at the end of surgery,Group Q1 received an intravenous injec-tion of oxycodone 0.04 mg/kg at the end of sur-gery,and Group Q2 received an intravenous injec-tion of oxycodone 0.04 mg/kg at 6 hours postoper-atively.Patients in the three groups were treated with a postoperative intravenous self-control anal-gesic pump(PCIA).The occurrence of rebound pain was recorded,the time of the first analgesic pump press,the number of presses,the dosage of sufent-anil,and the need for rescue analgesia were also recorded.Numerical Rating Scale(NRS)scores at rest and during movement were recorded at 6,8,12,24,48 and 72 hours postoperatively.The Pitts-burgh Sleep Quality Index(PSQI)was used to as-sess the sleep quality of patients the night before surgery and for two nights postoperatively.Adverse reactions such as respiratory depression,postoper-ative nausea and vomiting(PONV),and pruritus were recorded.RESULTS:Compared with group C and Q1,the incidence of rebound pain,postopera-tive sufentanil consumption,effective compression frequency of PCIA from 0-24 hours after surgery,and the rate of rescue analgesia were lower in Groups Q2(P＜0.05);Compared to Group C,the NRS scores at rest and during movement at 8,12,and 24 hours postoperatively were significantly lower in Groups Q1 and Q2(P＜0.05).However,compared to Group Q1,Group Q2 exhibited lower NRS scores at rest and during movement at 8,12,and 24 hours postoperatively(P＜0.05).On the first postoperative night,the PSQI scores of patients in Group Q2 were significantly better than those in Groups C and Q1(P＜0.05).There was no statistical-ly significant difference in the incidence of PONV among the three groups(P＞0.05).No respiratory depression,drowsiness,or pruritus were observed postoperatively in any of the groups.CONCLUSION:Intravenous injection of 0.04 mg/kg oxycodone 6 hours after surgery can reduce the occurrence of rebound pain after intercostal nerve block resolu-tion in thoracoscopic surgery and improves pa-tients' sleep quality.

Objective:To explore the clinical characteristics and genetic etiology of a child with Neurofibromatosis-Noonan syndrome (NFNS).Methods:A child with NFNS who was treated at the Department of Endocrinology of Hangzhou Children′s Hospital in January 2024 was selected as the study subject. Clinical data of the child was collected by retrospective analysis method. Peripheral venous blood samples (2 mL each) were collected from the child and his parents. Genomic DNA was extracted, and trio whole exome sequencing (Trio-WES) of the family was carried out. Sanger sequencing was used to perform family verification on the candidate variants. The identified variants were classified for pathogenicity according to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG) (hereafter referred to as the " ACMG guidelines" ). This study has been approved by the Medical Ethics Committee of Hangzhou Children′s Hospital (Ethics No. 2021-06).Results:The child was a 7-year and 4-month-old male. He has short stature, numerous café-au-lait spots on the neck and trunk, and special facial features such as a full forehead, wide interpupillary distance, a low nasal bridge, and low-set ears.The results of Trio-WES showed that he has harbored a NF1 gene c. 3773G>T (p.W1258L) mutation, which was verified by Sanger sequencing to be de novo in origin. The NF1 gene child was associated with NFNS, which was an autosomal dominant inheritance. According to the ACMG guidelines, this variant was judged to be a likely pathogenic variant (PS2+ PM2+ PP3+ PP2). No pathogenic variant in genes associated with Noonan syndrome, such as those in PTPN11, SOS1, RAF1, RIT1, and KRAS, was found. Conclusion:The child with NFNS has clinical features such as short stature, special facial features, and café-au-lait spots. The c. 3773G>T (p.W1258L) variation in the NF1 gene may be the genetic etiology of the NFNS child in this study. The results of this study has enriched the variation spectrum of the NF1 gene.

The prevalence of gouty arthritis is increasing year by year.Acute attacks seriously affect work and life.Poor control of chronic recurrent attacks may lead to teratogenicity and disability.Targeted reduction of serum uric acid levels and crystallolysis is the key to gout treatment.Although its treatment guidelines are relatively complete and drug choices are relatively wide,the clinical effect is still not satisfactory.This review focuses on the molecular and cytopathological mechanisms behind the clinical manifestations of acute attack and spontaneous remission of gouty arthritis,so as to further understand the necessity of standardized clinical medica-tion and explore its potential treatment strategies.

The construction of experimental animal models plays an important supporting role in research into the mechanisms of action of Chinese medicines.There have been increasing reports of the construction and evaluation of animal models of spleen deficiency;however,the construction method have involved different standards and there has been insufficient objectification of the evaluation indexes.In this review,we summarize the construction and evaluation method of animal models of spleen deficiency from the aspects of animal selection,model establishment,macroscopic characterization,behavioral experiments,and objective indexes of spleen deficiency,with a view to providing theoretical guidance for the construction of experimental animal models of spleen deficiency and references for the selection of animal model platforms for spleen deficiency.

Objective To observe the effect of pressure-controlled ventilation volume-guaranteed(PCV-VG)mode on respiratory mechanics,lung injury markers and postoperative pulmonary complications(PPCs)in thoracoscopic patients.Methods Fifty-nine patients undergoing elective thoracoscopic lobecto-my,29 males and 30 females,aged 18-64 years,BMI 18.5-26.0 kg/m2,ASA physical status Ⅰ or Ⅱ,were divided into two groups using a random number table method:the PCV-VG mode group(group P,n=29)and the volume-controlled ventilation(VCV)mode group(group V,n=30).The PCV-VG mode was used for one-lung ventilation(OLV)in group P,and the VCV mode was used in group V.Anesthesia in-duction and maintenance medications were consistent in all patients.PaO2 was recorded before induction of anesthesia,5 minutes after intubation,15 minutes after OLV,30 minutes after OLV,and 3 days postopera-tively,and oxygenation index(OI)and intrapulmonary shunt rate(Qs/Qt)were calculated.Peak airway pressure(Ppeak),pulmonary dynamic compliance(Cdyn),and driving pressure(DP)were recorded 5 minutes after intubation,15 minutes after OLV,and 30 minutes after OLV.Clara cell secretory protein-16(CC-16)and interleukin-6(IL-6)concentration were measured before induction of anesthesia and after ex-tubation.Recording the occurrence of PPCs within 1 week after surgery.Results Compared with group V,Ppeak and DP were significantly reduced,Cdyn was increased significantly in group P 15 minutes and 30 minutes after OLV(P＜0.05),PaO2 and OI were significantly increased in group P 3 days postoperatively(P＜0.05),CC-16 and IL-6 concentrations were significantly reduced in group P after extubation(P＜0.05).Compared with group V,the incidence of PPCs was significantly reduced in group P(P＜0.05).Conclusion During one-lung ventilation for thoracoscopic surgery,the pressure-controlled ventilation vol-ume-guaranteed mode reduces peak airway pressure and driving pressure,improves pulmonary dynamic compliance and improves oxygenation,reduces the incidence of PPCs.

Objective To investigate the myocardial injury effects of intrathecal morphine injection in elderly patients undergoing thoracoscopic lobectomy.Methods Fifty-five elderly patients undergoing elective thoracoscopic lobectomy,28 males and 27 females,aged 65-85 years,BMI 18.5-27.9 kg/m2,ASA physical status Ⅰ or Ⅱ,were divided into two groups using the digital random allocation method:the control group(group C,n=28)and intrathecal morphine group(group M,n=27).Group M was given a single injection of morphine 4 pig/kg in the L2-3 space before surgery.General anesthesia was used in both groups,and single-lung ventilation was performed with double-lumen endotracheal intubation.Venous blood was collected before induction,24 and 48 hours after the operation to measure the levels of N-terminal brain natriuretic peptide precursor(NT-proBNP),creatine kinase isoenzyme(CK-MB),high-sensitivity troponin T(hs-TnT)and C-reactive protein(CRP).The incidence of myocardial injury after noncardiac surgery(MINS)was recorded.The intraoperative remifentanil dosage was recorded and the VAS pain scores at rest and during activity at 6,12,24,and 48 hours postoperatively were evaluated.The number of effective pa-tient-controlled intravenous analgesia(PCIA)compressions,the total number of PCIA compressions,the times of remedial analgesia in the postoperative period of 48 hours,as well as the incidence of postoperative adverse reactions(respiratory depression,nausea and vomiting,urinary retention,and pruritus)were re-corded.Postoperative 30-day major adverse cardiovascular and cerebrovascular events were recorded.Results Compared with preoperative,the levels of serum NT-proBNP,CK-MB,hs-TnT,and CRP were significantly higher in both groups at 24 and 48 hours postoperatively(P＜0.05).Compared with group C,the elevated levels of serum NT-proBNP,CK-MB,hs-TnT,CRP,and absolute hsTnT changes were signifi-cantly lower in group M 24 and 48 hours after operation(P＜0.05),the incidence of MINS was signifi-cantly lower in group M(P＜0.05).Compared with group C,the VAS pain scores of patients in group M were decreased significantly 6,12 and 24 hours during activity and 12 and 24 hours at rest after surgery(P＜0.05),the dosage of intraoperative remifentanil,the number of effective and total postoperative PCIA compressions,and the incidence of need for postoperative remedial analgesia were significantly reduced in group M(P＜0.05).There was no significantly difference in the incidence of postoperative adiverse reca-tions between the two groups.Conclusion Intrathecal morphine can reduce the levels of markers of myo-cardial injury in elderly patients undergoing thoracoscopic lobectomy,which plays a partial role in myocardial protection.

Objective To investigate the effect of manual therapy based on surface electromyography on knee osteoarthritis(KOA)in the older people. Methods A total of 106 outpatient with unilateral KOA were selected from Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine,from August,2023 to June,2024,and were randomly divided into control group(n=53)and experimental group(n=53).The control group accepted routine manual therapy,and the experimental group accepted manual therapy based on the analysis of average electromyography(AEMG).They were assessed with Western Ontario and McMaster Universities Osteoarthritis Index(WOMAC),Visual An-alogue Scale(VAS)for pain,Tinetti Balance and Gait Score,and 6-minute walk test(6-MWT)distances before and after treatment. Results One case dropped down in each group.Before treatment,AEMG decreased in the rectus femoris,medial femoris and medial head of gastrocnemius on the affected side in the experimental group(|Z|>8.647,P<0.001),and it increased in the lateral femoris,semitendinosus and biceps femoris(|Z|>4.808,P<0.001).The scores of WOMAC,VAS,Tinetti Balance and Gait Score,and distances of 6-MWT improved in both groups after treat-ment(|t|>3.987,P<0.001),and improved more in the experimental group than in the control group,except the VAS score(|t|>2.213,P<0.05). Conclusion Manual therapy focusing on activation of rectus femoris,medial femoris and medial head of gastrocnemius,inhibition of the lateral femoris,semitendinosus and biceps femoris,and releasing the tension of the medial and lateral collateral ligaments,according to the results of surface electromyography,can alleviate the pain of the KOA in the older people and improve the mobility of the knee.