Objective:To explore the clinical and genetic characteristics of X-linked intellectual disability associated with HUWE1 gene variants.Methods:A cases series study retrospectively analyzed the clinical data of 6 children with HUWE1 gene variants. The children were identified from the Third Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Henan University of Chinese Medicine, and Guangzhou Women and Children′s Medical Center of Guangzhou Medical University between April 2021 and July 2023.The data included sex, age, dysmorphic features, intellectual and motor development, seizure history, neuroimaging findings, family history, and genetic results was analyzed.Results:A total of 6 children, including 5 boys and 1 girl. The age of onset ranged from 1 day to 3 years. All children presented with varying degrees of intellectual disability, with or without motor developmental delay. Dysmorphic features were observed in 4 children, including microcephaly in 3 children. Short stature were observed in 3 children. One child was diagnosed with autism spectrum disorders and 1 child had seizures. Two boys had relevant maternal family histories of febrile seizures and mild intellectual disability, respectively. Abnormal neuroimaging findings were presented in 4 children, including cerebral dysplasia (1 child), prominent supratentorial ventricles (1 child), and mild white matter demyelination (2 children). Whole-exome sequencing identified 5 missense variants and 1 in-frame deletion variant. Five variants were novel and previously unreported (c.12290C>T, c.12701T>C, c.9875C>T, c.9641A>T and c.10313_10315del). The variants in 4 boys were maternally inherited, while the remaining 2 children had de novo variants. The child with the in-frame deletion variant (c.10313_10315del) presented with the most severe phenotype, exhibiting symptoms from 1 day of age, absent cognitive development, feeding difficulties, and congenital laryngeal chondrodysplasia. He was lost to follow-up at 3 months of age after treatment was withdrawn. The age at the last follow-up for the remaining 5 children ranged from 2 years and 10 months to 17 years. A boy with seizures died at 2 years and 10 months of age. The remaining 4 children were able to walk independently at the last follow-up, although their developmental progress was slow. Conclusions:HUWE1 gene related X-linked intellectual disability is characterized by varying degrees of developmental delay and intellectual disability, frequently accompanied by microcephaly, short stature, and occasionally by seizures and autism spectrum disorders. Missense variants are more common and the in-frame deletion variant appears to be associated with a particularly severe phenotypic presentation.

Objective:To explore the clinical and genetic characteristics of X-linked intellectual disability associated with HUWE1 gene variants.Methods:A cases series study retrospectively analyzed the clinical data of 6 children with HUWE1 gene variants. The children were identified from the Third Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Henan University of Chinese Medicine, and Guangzhou Women and Children′s Medical Center of Guangzhou Medical University between April 2021 and July 2023.The data included sex, age, dysmorphic features, intellectual and motor development, seizure history, neuroimaging findings, family history, and genetic results was analyzed.Results:A total of 6 children, including 5 boys and 1 girl. The age of onset ranged from 1 day to 3 years. All children presented with varying degrees of intellectual disability, with or without motor developmental delay. Dysmorphic features were observed in 4 children, including microcephaly in 3 children. Short stature were observed in 3 children. One child was diagnosed with autism spectrum disorders and 1 child had seizures. Two boys had relevant maternal family histories of febrile seizures and mild intellectual disability, respectively. Abnormal neuroimaging findings were presented in 4 children, including cerebral dysplasia (1 child), prominent supratentorial ventricles (1 child), and mild white matter demyelination (2 children). Whole-exome sequencing identified 5 missense variants and 1 in-frame deletion variant. Five variants were novel and previously unreported (c.12290C>T, c.12701T>C, c.9875C>T, c.9641A>T and c.10313_10315del). The variants in 4 boys were maternally inherited, while the remaining 2 children had de novo variants. The child with the in-frame deletion variant (c.10313_10315del) presented with the most severe phenotype, exhibiting symptoms from 1 day of age, absent cognitive development, feeding difficulties, and congenital laryngeal chondrodysplasia. He was lost to follow-up at 3 months of age after treatment was withdrawn. The age at the last follow-up for the remaining 5 children ranged from 2 years and 10 months to 17 years. A boy with seizures died at 2 years and 10 months of age. The remaining 4 children were able to walk independently at the last follow-up, although their developmental progress was slow. Conclusions:HUWE1 gene related X-linked intellectual disability is characterized by varying degrees of developmental delay and intellectual disability, frequently accompanied by microcephaly, short stature, and occasionally by seizures and autism spectrum disorders. Missense variants are more common and the in-frame deletion variant appears to be associated with a particularly severe phenotypic presentation.

Objective:To investigate the feasibility, clinical efficacy and donor site impact of the deep inferior epigastric artery perforator flap (DIEPF) with transverse symmetrical design in reconstruction of soft tissue defects in limbs.Methods:From September 2020 to August 2023, 12 patients with soft tissue defects of limbs who agreed to flap donor site in the lower abdominal wall were treated in the Department of Hand Surgery and Microsurgery, Sichuan Modern Hospital. There were 10 females and 2 males with an average age of 58.42 years old. Defect sites: 3 in upper limbs and 9 in lower limbs. Sizes of the soft tissue defect were 8.0 cm×15.0 cm-13.0 cm×40.0 cm. CTA or CDU was used to detect the perforators of deep inferior epigastric artery and appropriate perforators were selected. The width and length of redundant skin and subcutaneous tissues in the lower abdomen were evaluated according to the "pinch and lift test". Taking into account the requirements of abdominoplasty, symmetrical bilateral DIEPFs were designed in the transverse direction on the lower abdominal wall. The sizes of the flaps were 7.5 cm×24.0 cm-13.0 cm ×42.0 cm. The harvested flaps were firstly thinned under the microscope, trimmed and shaped properly to match the profile of the wounds. Blood circulation was reconstructed with various forms of vascular anastomoses, such as internal pressurisation, connection in series and Flow-through, etc. Lower abdominal wall wound should be gradually reduced in tension according to the requirements of abdominal wall plastic surgery, and cosmetic suturing should be performed.Results:All 12 DIEPFs survived. The lower abdominal donor site healed primarily. All patients were included in postoperative follow-up for 6 to 42 (average 18.31) months. All flaps were normal in colour and soft in texture. The appearance of abdominal walls were improved, and the function was not affected, except 1 patient who underwent debulking procedure 3 months after the surgery.Conclusion:The transverse symmetrical design of a DIEPF is an ideal method for reconstruction of soft tissue defects in limbs after appropriate flap modification. It is a win-win solution for an aesthetic appearance of donor and recipient sites of the flap.

Objective:To evaluate the effect of dexmedetomidine-based anesthesia on intestinal barrier function in the patients with acute intestinal obstruction.Methods:Ninety-four patients with acute intestinal barrier obstruction, aged 33-81 yr, weighing 48-80 kg, of American Society of Anesthesiologists physical status Ⅰ or Ⅱ, were divided into 2 groups ( n=47 each) using a random number table method: routine anesthesia group (group R) and dexmedetomidine-based anesthesia group (group D). In group D, dexmedetomidine was intravenously injected in a loading dose of 1 μg/kg at 15 min before induction of general anesthesia followed by an infusion of 0.5 μg·kg -1·h -1 until 30 min before the end of operation.Before infusing the loading dose of dexmedetomidine, at 1 day after surgery, at 3 days after surgery, and at 7 days after surgery, peripheral venous blood samples were collected to measure the concentrations of diamine oxidase, D-lactic acid, bacterial endotoxin, tumor necrosis factor-α and interleukin-6.The occurrence of postoperative complications, anal exhaust time and average length of hospital stay were recorded. Results:Compared with group R, the concentrations of diamine oxidase, D-lactic acid, bacterial endotoxin, tumor necrosis factor-α and interleukin-6 were significantly decreased at 1 and 3 days after surgery, anal exhaust time and average length of hospital stay were shortened, and the requirement for respiratory cycle support and total incidence of complications were decreased in group D ( P<0.05). Conclusion:Dexmedetomidine-based anesthesia can improve intestinal barrier function to a certain extent in patients with acute intestinal obstruction.

Objective To evaluate the effect of dexmedetomidine on the postoperative pulmonary function in patients undergoing laparoscopic operation.Methods Eighty American Society of Anesthesiologists physical status Ⅰ or Ⅱ patients,aged 45-64 yr,weighing 45-70 kg,undergoing laparoscopic radical resection of rectal cancer,were divided into 2 groups (n =40 each) using a random number table:control group (group C) and dexmedetomidine group (group Dex).General anesthesia combined with epidural anesthesia was used.In group Dex,dexmedetonidine was intravenously infused as a bolus of 0.3 μg/kg over 10 min after epidural catheterization and before induction of general anesthesia,followed by an infusion of O.4 μg · kg-1 · h-1 starting from the end of tracheal intubation until 30 min before the end of operation.The equal volume of normal saline was given instead in group C.After epidural catheterization and before infusion of dexmedetomidine (T0),immediately before termination of pneumoperitoneum (T1) and at 1,6 and 24 h after operation (T2-4),blood samples were taken from the peripheral vein for determination of concentrations of serum interleukin-6 (IL-6),IL-10,tumor necrosis factor-alpha and malondialdehyde,and arterial blood gas analysis was performed simultaneously.Respiratory index and oxygenation index (OI) were calculated,and the occurrence of OI ≤ 300 mmHg was recorded.Results Compared with group C,the serum IL-6 and tumor necrosis factor-alpha concentrations and respiratory index were significantly decreased,and IL-1O concentrations and OI were increased at T1-4,and malondialdehyde concentrations were decreased at T1-3,and the incidence of OI ≤ 300 mmHg was decreased in group Dex (P＜0.05).Conclusion Dexmedetomidine can inhibit inflammatory responses and improve the postoperative pulmonary function in patients undergoing laparoscopic operation.

This study was aimed to investigate the effect of sinomenine on the expression of tumor suppressor gene P 16 and P53 in rats with lung cancer.A total of 40 male SD rats were treated by left-lung vein injection of WALKER-256 cell suspension to establish transplanted lung cancer model.After 3 weeks,30 rats screened of tumor were randomly divided into the model group,cyclophosphamide (CP) group and the sinomenine treatment group.Another 10 healthy SD rats were set as the normal control group.Sinomenine treatment group was treated with the subcutaneous injection of 10％ sinomenine hydrochloride for 10 weeks.CP was injected in the CP group as positive control.The same amount of normal saline was injected in the normal control group and the model control group.After 10 weeks of treatments,lung tumors of each group were removed to measure the tumor volume and weight.And the tumor inhibition rate was calculated.Then,flow cytometry was used to detect the proportion of WALKER-256 cells in tumor tissues in G1,G2,M and S around four cycles.Immunohistochemistry was adopted to detect positive expression rates of P16 and P53 protein.Reverse transcription polymerase chain reaction (RT-PCR) were used to detect expression of P16mRNA and P53mRNA.The results showed that compared with the model control group,the inhibition rate of sinomenine group was 30.15％;the positive expression rate of P16mRNA and P53mRNA protein were significantly decreased;expressions of P 16mRNA and P53mRNA were lower;tumor volume and tumor weight in S period got down significantly.The rates of cells in G1 and G2 periods got higher (P＜0.05).It was concluded that sinomenine may inhibit the differentiation and proliferation of WALKER-256 transplanted lung cancer cells in rats by regulating the expression of tumor suppressor gene P 16 and P53,regulating the ratio of cells in G1,G2 and S periods.

Objective To evaluate the effect of epidural block on postoperative cognitive dysfunction in elderly patients undergoing laparoscopic radical operation for gastric cancer under general anesthesia.Methods Sixty ASA physical status Ⅰ or Ⅱ patients,aged 65-75 yr,with preoperative Mini-Mental State Examination (MMSE) score ＞ 23,scheduled for elective laparoscopic radical operation for gastric cancer under general anesthesia,were randomized into epidural block group (group E,n =30) and control group (group C,n =30) using a random number table.Epidural block was performed at T8,9 interspace before induction of anesthesia.Anesthesia was induced with iv injection of midazolam 0.03 mg/kg,propofol 1.0-1.5 mg/kg,fentanyl 3-4 μg/kg and rocuronium 0.9 mg/kg.The patients were endotracheally intubated and mechanically ventilated.Anesthesia was maintained with iv infusion of remifentanil 0.15-0.25 μg· kg-1· min 1 and propofol target-controlled infusion (target plasma concentration 2.5-3.0μg/ml).In group E,10 ml of mixture of 0.25％ ropivacaine and 0.04 mg/ml butorphanol was injected via the epidural catheter at 30 min before skin incision.In the two groups,the mixture 10 ml mentioned above was administered via the epidural catheter at 10 min before the end of operation followed by patientcontrolled epidural analgesia.The development of postoperative cognitive dysfunction (MMSE score ＜ 21) was recorded within 72 h after operation.Blood samples were collected from the internal jugular vein to detect the concentration of serum protein S-100β.Results The concentration of serum protein S-100β was significantly lower at 6,12 and 24 h after operation,and the incidence of postoperative cognitive dysfunction within 72 h after operation was lower in group E than in group C (P ＜ 0.05).Conclusion Epidural block can decrease the development of postoperative cognitive dysfunction in elderly patients undergoing laparoscopic radical operation for gastric cancer under general anesthesia.

Objective To investigate the effects of positive end-expiratory pressure (PEEP) after recruitment maneuvers (RM) on respiratory mechanics and gas exchange during laparoscopy in obese patients.Methods Sixty-three ASA physical status Ⅱ or Ⅲ patients,aged 42-64 yr,with body mass index 30-40kg/m2,were randomly allocated into 3 groups (n=21 each):PEEP0 group,PEEP5 group and PEEP10 group.PEEP was not given after RM in PEEP0 group.In PEEP5 and PEEP10 groups,a recruiting maneuver was followed by PEEP 5 and 10 cm H2 O,respectively,until the end of pneumoperitoneum.The intraabdominal pressure was set at 12mmHg in the three groups.Parameters of respiratory mechanics including peak airway pressure (Ppeak),airway plateau pressure (Peat),chest wall plateau pressure (PplatCW),airway resistance (Raw),elastance of respiratory system (ERS),elastanc of chest wall (ECW) and elastance of lung (EL) and parameters of gas exchange including oxygenation index (PaO2/FiO2),arterial to end-tidal difference in carbon dioxide (Da-ETCO2),alveolar-arterial oxygen tension difference (DA-aO2),and dead space/tidal volume ratio (VD/VT) were measured before pneumoperitoneum (T0),at 20 min of pneumoperitoneum (T1),at 10 min after the end of recruitment (T2),and at the end of pneumoperitoneum (T3).Results Da-ETCO2,ERS and Raw were decreased at T2,ECW and EL were decreased at T3 in PEEP5 group,and Da-ETCO2,VD/VT,DA-aO2,Pplatcw Raw and EL were decreased at T2.3,and PaO2/FiO2 was increased at T2,ECW was decreased at T3 in group PEEP10 as compared with that in group PEEP0 (P ＜ 0.05).Da-ETCO2 and VD/VT were decreased and PaO2/FiO2 was increased at T2,3,Raw was increased and EL was decreased at T2 in group PEEP10 as compared with that in group PEEP5 (P ＜ 0.01).Conclusion PEEP after RM can improve respiratory mechanics and gas exchange during laparoscopy in obese patients and PEEP maintained at 10 cm H2O after RM provides better efficacy than PEEP at 5 cm H2 O.

ObjectiveTo investigate the effect of dexmedetomidine on postoperative intracranial pressure (ICP) in patients with severe brain injury.MethodsNinety ASA Ⅱ or Ⅲ patients with severe brain injury,aged 19-64 yr,with Glasgow coma scale 3-7,undergoing emergency craniotomy,were randomly divided into 3 groups (n =30 each):control group (group C) and 2 different doses of dexmedetomidine groups (groups D1,D2 ).Anesthesia was induced with propofol 1.5-2.0 mg/kg,fentanyl 4 μg/kg and vecuronium 0.1 mg/kg and maintained with iv infusion of propofol and remifentanil and intermittent iv boluses of vecuronium.The patients were mechanically ventilated after tracheal intubation.Dexmedetomidine 0.3 and 0.7 μg· kg- 1· h- 1 were infused after tracheal intubation in groups D1 and D2 respectively and the infusion was maintained for 48 h.ICP was monitored after operation and maintained ＜ 30 mm Hg by iv injection of hexadecadrol,mannitol and glycerol fructose within 2 d after operation.Venous blood samples were obtained from peripheral vein after anesthesia induction and at 6,12 and 24 h after operation (T0-3) for determination of sertum IL-1β and TNF-α concentrations by ELISA.The clinical results were evaluated using Glasgow prognosis score at 3 months after operation.The amount of hexadecadrol,mannitol and glycerol fructose consumed during 2 d after operation was recorded.ResultsCompared with T0,serum IL-1βand TNF-α concentrations were significantly higher at T1-3 in the three groups ( P ＜ 0.05).The serum IL-1β and TNF-α concentrations at T1-3 and the amount of hexadecadrol,mannitol and glycerol fructose consumed were significantly lower,and the clinical results were significant better in groups D1 and D2 than in group C,and in group D2 than in group D1 ( P ＜ 0.05).ConclusionDexmedetomidine can reduce postoperative ICP in patients with severe brain injury in a dose-dependent manner which is helpful for improving prognosis.The decrease in IL-1β and TNF-α levels and inhibition of inflammatory response may be involved in the mechanism.

Objective To investigate the effect of preemptive analgesia with parecoxib sodium on postoperative cognitive junction in the elderly patients.Methods Sixty ASA ⅠorⅡ patients aged 69-83 yr weighing 47-73 kg undergoing elective operation on the femoral head or hip joint were randomly divided into 2 groups (n=30 each):control group (group C) and parecoxib group (group P).Their preoperative mini-mental state examination scores were more than 23.Parecoxib sodium 40 mg in 5 ml normal saline was injected iv before induction of anesthesia in group P. Patient-controlled intravenous analgesia with fentanyl and tramadol was used in all patients. VAS score was maintained ≤3. If VAS score was more than 3, a bolus of fentanyl 0.2 μg/kg was given iv.Venous blood samples were taken at 1 day before and 1, 4, 24 and 72 h after operation for determination of plasma concentrations of cortisol.Cognitive function was assessed by mini-mental state examination. The total amount of fentanyl and tramadol consumed was recorded. Results Plasma cortisol concentrations and incidence of postoperative cognitive dysfunction were significantly lower and the total amount of fentanyl and tramadol consumed was smaller in group P than in group C.Conclusion Preemptive analgesia with parecoxib sodium 40 mg can reduce the incidence of postoperative cognitive dysfunction in the elderly patients.