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*

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 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

Objective:To explore the cortical abnormalities in brain regions in adolescent with self-injury and the correlation between cortical structural changes and clinical emotional manifestations.Methods:From April 2023 to June 2024, totally 38 adolescents with self-injury(self-injury group) from psychological outpatient department of First People’s Hospital of Changzhou and 41 healthy volunteers (HC group) matched with age, gender and years of education were selected.T1-weighted magnetic resonance imaging and clinical data of all participants were collected. All of them were investigated by the 17-item Hamilton depression scale (HAMD-17) and Hamilton anxiety scale (HAMA). Image preprocessing and surface-based morphometry analysis were performed by the DPABISurf software. Cortical parameters from regions showing significant differences were extracted, which were then evaluated the correlation with the emotional scores based on Spearman correlation analysis by SPSS 29.0 software.Results:Compared with HC group, self-injury group showed reduced thickness in areas primarily involving the left somatosensory and motor cortex, left paracentral lobular and mid cingulate cortex, left posterior cingulate cortex and premotor cortex(MNI: cluster 1: x=-17.73, y=-32.81, z=43.87, cluster 2: x=-35.97, y=-8.72, z=52.01, cluster 3: x=-18.94, y=-41.39, z=65.94)(all P<0.05). Lower sulcal depth in the left orbital and polar frontal cortex (MNI: x=-39.9, y=47.92, z=-5.42) ( P<0.05) and higher mean curvature in the right superior parietal cortex (MNI: x=21.89, y=-61.89, z=50.55) ( P<0.05) were found in the self-injury group. In the self-injury group, Spearman correlation analysis revealed negative correlations between cortical thickness in the regions of interest and clinical emotional scores (HAMD-17: r=-0.385, -0.332, P<0.05; HAMA: r=-0.395, -0.481, P<0.05), primarily involving the left supplementary motor area, left premotor cortex and the left somatosensory and motor cortex. Conclusion:The perception and execution cortex of adolescents with self-injury shows surface morphological abnormalities, which may be relevant to clinical emotional manifestations.

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 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.

Objective To establish and validate an individualized risk prediction nomogram model for the occurrence of gestational diabetes mellitus in pregnant women with hypothyroidism. Methods A total of 160 pregnant women with hypothyroidism were selected as the study subjects, including 85 patients with gestational diabetes mellitus (observation group) and 75 patients with normal blood glucose levels (control group). The age, gravidity, parity as well as pre-pregnancy body mass index, thyroid peroxidase antibody (TPOAb), homeostatic model assessment of insulin resistance (HOMA-IR), homeostatic model assessment of beta-cell function (HOMA-β), free thyroxine (FT4), free triiodothyronine (FT3) and thyroid stimulating hormone (TSH) were compared between the two groups. Multivariable analysis was used to analyze the risk factors for gestational diabetes mellitusin pregnant women with hypothyroidism. The nomogram model was used to predict the risk of gestational diabetes mellitus in pregnant women with hypothyroidism. The receiver operating characteristic (ROC) curve was used to evaluate the predictive value of the nomogram model for gestational diabetes mellitus in pregnant women with hypothyroidism. Results The age, gravidity, parity as well as pre-pregnancy body mass index, TPOAb, HOMA-IR and HOMA-β were higher in the observation group than in the control group, while pre-pregnancy FT4, FT3 and TSH were lower (P < 0.05). Multivariable analysis showed that older age, gravidity, parity as well as pre-pregnancy body mass index, TPOAb, HOMA-IR and HOMA-β, and lower pre-pregnancy FT4, FT3 and TSH were risk factors for gestational diabetes mellitusin pregnant women with hypothyroidism. The nomogram model prediction showed that older age (28 to 31 years), gravidity (more than 2 times), parity (more than 1 time) as well as pre-pregnancy body mass index (above 24.00 kg/m²), TPOAb (> 421.33 IU/mL), HOMA-IR (> 2.21) and HOMA-β (> 115.66), and lower pre-pregnancy FT4 (< 0.33 ng/dL), FT3 (< 1.65 pg/mL) and TSH (< 0.26 mIU/mL) were risk factors for gestational diabetes mellitus in pregnant women with hypothyroidism. ROC curve analysis showed that the area under the curve of the nomogram model for predicting gestational diabetes mellitus in pregnant women with hypothyroidism was 0.785, indicating good predictive performance. Conclusion The risk prediction nomogram model has high value in individualized prediction of gestational diabetes mellitus in pregnant women with hypothyroidism.

Objective:To compare the efficacy of ultrasound volume navigation (UVN) and that of O-arm navigation in the treatment of thoracolumbar vertebral fractures with percutaneous pedicle screw fixation.Methods:A retrospective study was conducted to analyze the clinical data of 29 patients with thoracolumbar vertebral fracture who had been treated with percutaneous pedicle screw fixation at Department Ⅰ of Minimally Invasive Spinal Surgery, Luoyang Orthopedic Hospital from January 2022 to June 2023. The patients were assigned into 2 groups according to different navigation methods. In group UVN of 17 cases, there were 14 males and 3 females with a mean age of 50.0 (44.0, 53.5) years, and the pedicle screw fixation was guided by UVN; in group O-arm of 12 cases, there were 10 males and 2 females with an age of (40.6±11.1) years, and the pedicle screw fixation was guided by O-arm navigation. The 2 groups were compared in terms of insertion time per screw, total dose of intraoperative radiation, radiation dose per screw, accuracy of screw placement, rate of facet joint violation, and visual analogue scale (VAS) pain scores for lumbar pain at postoperative 1, 3, and 6 months.Results:There were no statistically significant differences in the preoperative general data between the 2 groups, indicating comparability ( P>0.05). There was no statistically significant difference in the insertion time per screw between group UVN and group O-arm [(13.2±1.3) min versus (14.1±1.3) min] ( P>0.05). The total dose of intraoperative radiation and radiation dose per screw in group UVN [(1.80±0.54) mSv and (0.41±0.10) mSv] were significantly lower than those in group O-arm [(3.52±0.33) mSv and (0.85±0.11) mSv] ( P<0.05). The accuracy of screw placement and rate of facet joint violation in group UVN [94.7% (71/75) and 17.6% (3/17)] were not significantly different from those in group O-arm [92.2% (47/51) and 8.3% (1/12)]] ( P>0.05). The VAS score at postoperative 1 month in group UVN [4.0 (3.5, 5.0) points] was significantly lower than that in group O-arm [5.0 (5.0, 6.0) points] ( P<0.05). There were no statistically significant differences between the 2 groups in the VAS pain scores at postoperative 3 and 6 months ( P>0.05). Conclusions:In the treatment of thoracolumbar vertebral fractures with percutaneous pedicle screw fixation, screw placement guided by UVN is as time-saving, intuitive, and accurate as that guided by O-arm navigation. However, UVN is better than O-arm navigation in radiation avoidance and pain relief.

Objective:To compare the efficacy of ultrasound volume navigation (UVN) and that of O-arm navigation in the treatment of thoracolumbar vertebral fractures with percutaneous pedicle screw fixation.Methods:A retrospective study was conducted to analyze the clinical data of 29 patients with thoracolumbar vertebral fracture who had been treated with percutaneous pedicle screw fixation at Department Ⅰ of Minimally Invasive Spinal Surgery, Luoyang Orthopedic Hospital from January 2022 to June 2023. The patients were assigned into 2 groups according to different navigation methods. In group UVN of 17 cases, there were 14 males and 3 females with a mean age of 50.0 (44.0, 53.5) years, and the pedicle screw fixation was guided by UVN; in group O-arm of 12 cases, there were 10 males and 2 females with an age of (40.6±11.1) years, and the pedicle screw fixation was guided by O-arm navigation. The 2 groups were compared in terms of insertion time per screw, total dose of intraoperative radiation, radiation dose per screw, accuracy of screw placement, rate of facet joint violation, and visual analogue scale (VAS) pain scores for lumbar pain at postoperative 1, 3, and 6 months.Results:There were no statistically significant differences in the preoperative general data between the 2 groups, indicating comparability ( P>0.05). There was no statistically significant difference in the insertion time per screw between group UVN and group O-arm [(13.2±1.3) min versus (14.1±1.3) min] ( P>0.05). The total dose of intraoperative radiation and radiation dose per screw in group UVN [(1.80±0.54) mSv and (0.41±0.10) mSv] were significantly lower than those in group O-arm [(3.52±0.33) mSv and (0.85±0.11) mSv] ( P<0.05). The accuracy of screw placement and rate of facet joint violation in group UVN [94.7% (71/75) and 17.6% (3/17)] were not significantly different from those in group O-arm [92.2% (47/51) and 8.3% (1/12)]] ( P>0.05). The VAS score at postoperative 1 month in group UVN [4.0 (3.5, 5.0) points] was significantly lower than that in group O-arm [5.0 (5.0, 6.0) points] ( P<0.05). There were no statistically significant differences between the 2 groups in the VAS pain scores at postoperative 3 and 6 months ( P>0.05). Conclusions:In the treatment of thoracolumbar vertebral fractures with percutaneous pedicle screw fixation, screw placement guided by UVN is as time-saving, intuitive, and accurate as that guided by O-arm navigation. However, UVN is better than O-arm navigation in radiation avoidance and pain relief.