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 He was lost to follow-up at 3 months of age after treatment was withdrawn.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.

Yigongsan is derived from Xiaoer Yaozheng Zhijue written by QIAN Yi in the Northern Song dynasty， which is the No. 3 formula in the Catalogue of Ancient Famous Classical Formulas（The Second Batch of Pediatrics） released by the National Administration of Traditional Chinese Medicine（TCM） in September 2022， and it can be developed as a class 3.1 new TCM drug. By referring to ancient medical books and modern literature， this study conducted herbal textual research on Yigongsan from five aspects， including historical evolution， origin and processing， dosage conversion， usage and preparation methods， and functional application， then formed the key information table of this formula， in order to provide reference for the development of reference samples and preparations of Yigongsan. Based on the results of the study， it is recommended that Panax ginseng should be removed the basal part of stem（rhizoma）， Poria cocos should be removed the peel， Citrus reticulata should be cut into shreds and Glycyrrhiza uralensis should be used. According to 4.13 g/Qian（钱）， 1 g/slice for ginger， 3 g for each jujube and 300 mL/Zhan（盏）， the doses of Ginseng Radix， Poria， Atractylodis Macrocephalae Rhizoma， Glycyrrhizae Radix et Rhizoma， Citri Reticulatae Pericarpium， Zingiberis Rhizoma Recens， Jujubae Fructus were 1.652， 1.652， 1.652， 1.652， 1.652， 5， 6 g， and the total amount was 19.26 g. The decocting method was to crush the medicinal materials into fine powder with 50-80 mesh， add 300 mL of water and decoct to 210 mL for each dose， then remove the dregs and take it warmly. This formula was recorded in ancient books as the main treatment for the cold-deficiency of spleen and stomach， and Qi stagnation in children with vomiting and diarrhea and lack of appetite. It has been flexibly applied by later generations of physicians， and is often used to treat anorexia， inflammation of the digestive tract， diarrhea and other diseases in children.

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.

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.

Objective To evaluate the incidence of postanesthetic shivering in patients undergoing radical operation for lung cancer under dexmedetomidine-assisted anesthesia.Methods Eighty ASA Ⅰ or Ⅱ patients,aged 50-75 yr,height 158-180 cm,weighing 48-79 kg,scheduled for radical operation for lung cancer under general anesthesia combined with epidural anesthesia,were randomly divided into 2 groups ( n =40 each): normal saline control group (group C) and dexmedetomidine group(group D).Anesthesia was induced with midazolam,fentanyl,propofol and rocuronium.The patients were tracheal intubated and mechanically ventilated.Anesthesia was maintained with sevoflurane inhalation and intermittent epidural ropivacaine.BIS was maintained at 40-55.Group D received dexmedetomidine intravenous infusion at 0.5 μg · kg- 1· h- 1 from immediately after tracheal intubation until 1 h before the end of operation,and group C received the equal volume of normal saline.The shivering within 1 h after operation was scored and recorded.Results The incidence rate of postanesthetic shivering was 50％ in group C and 10％ in group D.Compared with group C,the incidence rate and degree of shivering were decreased in group D( P ＜ 0.05).Conclusion Dexmedetomidine-assisted anesthesia can reduce the incidence of postanesthetic shivering in patients undergoing radical operation for lung cancer.

OBJECTIVE:To discuss the necessity of clearing the pharmaceutical butyl rubber stoppers for infusion bottles before use.METHODS:Pharmaceutical butyl rubber stoppers for infusion bottles produced by manufacturer A and B were se-lected and washed at least once before a preliminary test was performed.Then product A was chosen for further test.The stoppers of two different batch numbers by manufacturer A were selected,one washed with injecting water and another not washed,all of which were used in the production of all kinds of transfusions in the hospital where the authors worked,then infusible motes in these products were measured.RESULTS:The infusible motes in the products with unwashed stoppers was not in accordance with the requirements in China Pharmacopoeia,while those with washed ones was in accordance.CONCLU_ SION:The pharmaceutical butyl rubber stoppers for infusion bottles must be washed by injecting water at least once before use to ensure the quality of the products.