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*

Objective:To evaluate the efficacy of perioperative analgesia with esketamine in the patients undergoing thoracoscopic surgery.Methods:A total of 90 patients of either sex, aged 18-64 yr, with body mass index of 18-30 kg/m 2, of American Society of Anesthesiologists Physical Status classification Ⅰ or Ⅱ, scheduled for elective thoracoscopic lobectomy under general anesthesia, were divided into 3 groups ( n=30 each) by a random number table method: control group (C group) and different doses of esketamine groups (S 1 group, S 2 group). Before induction of anesthesia, esketamine 0.1 and 0.2 mg/kg were intravenously injected in S 1 group and S 2 group, respectively, while esketamine was not given in group C. Anesthesia was routinely induced in all the three groups. During anesthesia maintenance, esketamine 0.1 and 0.2 mg·kg -1·h -1 were intravenously infused in group S 1 and group S 2, respectively, and the remaining drugs used for anesthesia maintenance were the same in the three groups. Patient-controlled intravenous analgesia (PCIA) was used after operation, and PCIA solution contained sufentanil 2 μg/kg in group C, and esketamine 1 mg/kg was mixed on the basis as previously described in S 1 and S 2 groups. Aminotriol ketorolac was given as rescue analgesia to maintain numeric rating scale score at rest ≤3. The total amount of propofol and remifentanil during operation, effective pressing times of PCIA in postoperative 0-24 h and >24-48 h periods, and requirement for rescue analgesia were recorded. The occurrence of adverse reactions such as respiratory depression, nausea and vomiting, dizziness and salivation, and emergence time were recorded after surgery. The serum interleukin-6 (IL-6) concentration was measured by enzyme-linked immunosorbent assay at 30 min before and after surgery, and the malondialdehyde (MDA) concentration in serum was measured by thiobarbituric acid colorimetric analysis. The postoperative recovery was assessed using the 50-item quality of recovery scale at 1 and 2 days after surgery. The development of chronic pain was followed up by telephone within 1-3 months after surgery. Results:Compared with group C, the intraoperative consumption of remifentanil, effective pressing times of PCIA in postoperative 0-24 h and >24-48 h periods, rate of rescue analgesia, and postoperative serum IL-6 concentration were significantly decreased, and the 50-item quality of recovery scale score was increased in S 1 and S 2 groups, and the postoperative serum MDA concentration was significantly decreased in group S 2 ( P<0.05). Compared with group S 1, the consumption of intraoperative remifentanil was significantly decreased ( P<0.05), and no significant change was found in postoperative serum IL-6 and MDA concentrations in group S 2 ( P>0.05). Compared with group S 2, the postoperative emergence time was significantly shortened in S 1 and C groups ( P<0.05). There was no statistically significant difference in the intraoperative consumption of propofol, incidence of adverse effects and incidence of chronic pain among the three groups ( P>0.05). Conclusions:Esketamine for perioperative analgesia (dose before anesthesia induction 0.1 mg/kg, dose for maintenance of anesthesia 0.1 mg·kg -1·h -1, dose for postoperative PCIA 1 mg/kg) can raise the quality of analgesia and improve the quality of early postoperative recovery in the patients undergoing thoracoscopic lobectomy.

The transmission and interaction of neural information between the hippocampus and the prefrontal cortex play an important role in learning and memory. However, the specific effects of learning memory-related tasks on the connectivity characteristics between these two brain regions remain inadequately understood. This study employed in vivo microelectrode recording to obtain local field potentials (LFPs) from the ventral hippocampus (vHPC) and medial prefrontal cortex (mPFC) in eight rats during the performance of a T-maze task, assessed both before and after task learning. Additionally, dynamic causal modeling (DCM) was utilized to analyze alterations in causal connectivity between the vHPC and the mPFC during memory task execution pre- and post-learning. Results indicated the presence of forward connections from vHPC to mPFC and backward connections from mPFC to vHPC during the T-maze task. Moreover, the forward connection between these brain regions was slightly enhanced after task learning, whereas the backward connection was diminished. These changes in connectivity corresponded with the observed trends when the rats correctly performed the T-maze task. In conclusion, this study may facilitate future investigations into the underlying mechanisms of learning and memory from the perspective of connectivity characteristics between distinct brain regions.
Animals ; Hippocampus/physiology* ; Rats ; Prefrontal Cortex/physiology* ; Memory/physiology* ; Maze Learning/physiology* ; Learning/physiology* ; Male

Child ; Humans ; Case-Control Studies ; East Asian People ; Genetic Predisposition to Disease/genetics* ; Methyltransferases/genetics* ; Polymorphism, Genetic ; Wilms Tumor/pathology*

Objective:To explore the value of case analysis combined with role revelation in cultivating thinking ability of surgical nursing training.Methods:A total of 87 newly recruited nurses who needed to rotate in the surgical system of Fenyang Hospital, Shanxi Medical University from January 2019 to October 2020 were selected as the study subjects. They were divided into control group ( n=43) and study group ( n=44). The control group used traditional teaching, and the study group used case analysis combined with role revelation. The clinical thinking ability of nurses was evaluated by written examination of clinical thinking ability and clinical thinking ability score table. SPSS 22.0 was used for t-test. Results:The scores of written examination of clinical thinking ability (history collection, preliminary clinical diagnosis, preliminary nursing measures, auxiliary examination interpretation, comprehensive analysis of diagnosis and treatment process, nursing and discharge diagnosis, and health education) of nurses in the study group were significantly higher than those in the control group ( P<0.05). The scores of clinical thinking ability (critical thinking ability, system thinking ability and evidence-based thinking ability) of nurses in the study group were higher than those in the control group, and the difference was statistically significant ( P<0.05). Conclusion:Case analysis combined with role revelation in the surgical nursing training of new nurses is helpful to improve the trainees' clinical thinking ability.

A 13-year-old male patient presented with skin abnormalities for more than 10 years and slow growth in body height for more than 5 years. Since the age of 6 months, erythema and scales had occurred on the extremities, and gradually spread to the trunk and face; brown pigmentation and punctate depigmentation appeared after subsidance of the erythema and scales, accompanied by dental caries, thickened palms and soles, nail thickening and peeling. Since the age of 6 years, the patient had presented with slow growth in body height, gonadal dysgenesis, sparse eyebrows and eyelashes, flat cheekbones and lameness in walking. In the past 10 years, neutrophil count had been found to be continuously lower than the normal reference value. Blood routine examination showed a neutrophil count of 1.1 × 10 9/L and a neutrophil proportion of 0.345; serum level of testosterone in the patient (< 0.087 nmol/L) was lower than normal levels. DNA was extracted from the peripheral blood of the patient and his parents, and gene mutation analysis was carried out by using whole-exome sequencing technology. Genetic testing showed compound heterozygous mutations in the USB1 gene of the patient, including the c.450-2A>G mutation inherited from his mother and the c.335de1G mutation inherited from his father, and the c.335de1G mutation had not been reported in China and other countries.

Objective: To study the correlation between meteorological factors and the incidence of hand, foot and mouth disease (HFMD) in Xinjiang Uygur Autonomous Region (Xinjiang) so as to provide scientific evidence for the early warning, prediction, prevention and control of HFMD. Methods: Data on HFMD surveillance and related population was collected from the China Information System for Disease Control and Prevention from 2011 to 2018. Meteorological data was obtained from http://www.tianqihoubao.com. Correlation analysis on meteorological factors and the incidence of HFMD in Xinjiang was conducted, using the Excel 2007, SPSS 17.0, and Spatial Distribution Map by ArcGIS 10.2 software. Results: HFMD usually occurred between April and July. Numbers of patients reached the top in May and June. Temperature was positively correlated with the incidence of HFMD (r=0.370, P<0.01) while precipitation was positively correlated with the incidence of HFMD (r=0.747, P<0.01). The temperature threshold appeared as 5 ℃-35 ℃ for the incidence of HFMD. Interval period was one month between the peak of both the incidence of HFMD and the precipitation. A power function relationship (y=0.009 4x^{2.332 9}, R²=0.898 9) was noticed between the precipitation and the incidence of HFMD. Conclusions The incidence of HFMD was closely related to the meteorological factors including temperature and precipitation in Xinjiang during 2011-2018. Our findings have provided evidence for the development of early warning system on HFMD in Xinjiang.

To observe the safety and impact on the short-term prognosis for patients of stroke volume variation (SVV) goal-directed fluid therapy (GDFT) in laparoscopic precision hepatectomy.
 Methods: A total of 120 patients (18-65 years old) undergoing laparoscopic precision hepatectomy were randomly divided into the fluid therapy group (group S) guided by SVV and the fluid therapy group (group C) guided by central venous pressure group (CVP), with 60 cases in each group. Mean arterial pressure (MAP) and heart rate (HR) were recorded at the following time: at home calm (T0), the operation started (T1), began to cut the liver (T2), the hepatectomy was acheived (T3), and in the end (T4). The lactic acid was measured at T0 to T4 and 1 day after surgery (T5). The amount of blood loss, urine output and fluid supplement, the incidence of intraoperative hypotension, and the use of neophryn were recorded. The recovery of liver function, Hb, and so on were also recorded.
 Results: Compared with the group C, the number of hypotension cases, the amount of blood loss and the amount of neophryn in the group S were decreased during the operation (P<0.05), while the lactic acid values in the group S were not significantly increased than those in the group C at T3 and T4 (P<0.05) and the elevation of AST, ALT, DBIL and TBIL in the group S was significantly decreased than those in the group C at 1 and 2 d after the operation (P<0.05). Hb and Hct in the group S were higher than those in the group C at 1 d after the surgery (P<0.05). Compared with the group C, the postoperative exhaust time and hospitalization time were shortened in the group S (P<0.05), and the infection rate and ICU admission rate were decreased in the group S (P<0.05).
 Conclusion: SVV-guided GDFT in laparoscopic precise hepatectomy is safe and effective. It reduces intraoperative blood loss and benefits the short-term prognosis of patients after operations. High SVV value (13%-17%) is adopted at the liver resection stage, and SVV value with 8%-12% at the end of trans-section may be used as one of intraoperative liquid therapy in laparoscopic precise hepatectomy.
Adolescent ; Adult ; Aged ; Central Venous Pressure ; Fluid Therapy ; Hepatectomy ; Humans ; Laparoscopy ; Middle Aged ; Stroke Volume ; Young Adult

Objective To investigate the epidemiological characteristics of outpatients exposed to rabies and to analyze the post-exposure prophylaxis in Weinan City in 2017 in order to provide a scientific basis for the prevention of rabies. Methods Clinical data of all outpatients with exposure to rabies in Wei-nan were collected. Ecxcel 2007 was used for data entry and SPSS13. 0 for Chi-square test. Results A total of 32 094 cases were reported with an annual exposure rate of 625. 64/100 000 in Weinan in 2017. Animal bites mainly occurred in spring and summer,accounting for 47. 47% of the total cases in 2017. There were statistically differences in exposure rate among different age groups (χ2=15. 858,P=0. 003). Farmers ac-counted for the largest proportion of the outpatients exposed to rabies (52. 34% ). Among 31 435 outpatients, 28 181(89. 65% ) received wound care and rabies vaccination. The vaccination rate of rabies immunoglobu-lin for patients with gradeⅢ exposure was 46. 93%. Conclusion Comprehensive measures with focuses on compulsory vaccination for domestic dogs and adoption of stray dogs should be implemented to prevent human rabies. Meanwhile,health education rabieson prevention and control should also be strengthened.

Objective To explore the intra- and inter-rater reliability of shear wave elastography (SWE) for the patellar tendon and quadriceps femoris stiffness.Methods From October to November, 2017, the stiffness of the patellar tendon and quadriceps femoris of 20 healthy men was measured by SWE, and measured again five days later. The results were evaluated with interclass correlation coefficient (ICC).Results For patellar tendon, ICC=0.79 in intra-rater and inter-rater; for rectus femoris, ICC=0.71 in intra-rater and 0.73 in inter-rater; for vastus lateralis muscle, ICC=0.84 in intra-rater and 0.74 in inter-rater; for vastus medialis,ICC=0.95 in intra-rater and 0.94 in inter-rater.Conclusion It is a reliable and repeatable method to measure the stiffness of patellar tendon and quadriceps femoris by SWE.