Objective: To explore the mediating effects of psychological flexibility and exercise self-efficacy between frailty and social isolation among elderly patients with type 2 diabetes mellitus (T2DM), so as to provide the basis for alleviating social isolation in this population. Methods: From July to November 2024, elderly patients with T2DM aged ≥65 years were selected by using the convenience sampling method from the endocrinology and geriatrics departments of a tertiary hospital in Shanxi Province. Demographic and clinical data were collected using structured questionnaires. Frailty was assessed using the FRAIL Scale, psychological flexibility was measured with the Acceptance and Action Questionnaire-II (AAQ-II), exercise self-efficacy was evaluated via the Chinese version of the Exercise Self-Efficacy Scale, and social isolation was quantified employing the General Alienation Scale. The mediating effects of psychological flexibility and exercise self-efficacy between frailty and social isolation were analyzed using the Process macro program. Results: A total of 300 elderly patients with T2DM were included, with a mean age of (71.16±4.88) years. There are 167 males (55.67%) and 133 females (44.33%). The mean scores for frailty, psychological flexibility, exercise self-efficacy, and social isolation were (2.82±1.59), (28.32±6.95), (5.69±1.20), and (39.27±9.24). Mediation analysis revealed that frailty positively affected social isolation (β=0.227, 95%CI: 0.132-0.323). It also indirectly positively influenced social isolation through psychological flexibility (β=0.165, 95%CI: 0.105-0.234) and exercise self-efficacy (β=0.150, 95%CI: 0.093-0.217), and the chained mediating effect of psychological flexibility and exercise self-efficacy (β=0.066, 95%CI: 0.038-0.100). Conclusion Frailty exacerbates social isolation by diminishing psychological flexibility and exercise self-efficacy among elderly patients with T2DM.

Objective:To analyze the factors affecting delayed chemotherapy in children with Burkitt lymphoma (BL) and their influence on prognosis.Methods:Retrospective cohort study. Clinical data of 591 children aged ≤18 years with BL from May 2017 to December 2022 in China Net Childhood Lymphoma (CNCL) was collected. The patients were treated according to the protocol CNCL-BL-2017. According to the clinical characteristics, therapeutic regimen was divided into group A, group B and group C .Based on whether the total chemotherapy time was delayed, patients were divided into two groups: the delayed chemotherapy group and the non-delayed chemotherapy group. Based on the total delayed time of chemotherapy, patients in group C were divided into non-delayed chemotherapy group, 1-7 days delayed group and more than 7 days delayed group. Relationships between delayed chemotherapy and gender, age, tumor lysis syndrome before chemotherapy, bone marrow involvement, disease group (B/C group), serum lactate dehydrogenase (LDH) > 4 times than normal, grade Ⅲ-Ⅳ myelosuppression after chemotherapy, minimal residual disease in the interim assessment, and severe infection (including severe pneumonia, sepsis, meningitis, chickenpox, etc.) were analyzed. Logistic analysis was used to identify the relevant factors. Kaplan-Meier method was used to analyze the patients' survival information. Log-Rank was used for comparison between groups.Results:Among 591 patients, 504 were males and 87 were females, the follow-up time was 34.8 (18.6,50.1) months. The 3-year overall survival (OS) rate was (92.5±1.1)%,and the 3-year event-free survival (EFS) rate was (90.5±1.2)%. Seventy-three (12.4%) patients were in delayed chemotherapy group and 518 (87.6%) patients were in non-delayed chemotherapy group. The reasons for chemotherapy delay included 72 cases (98.6%) of severe infection, 65 cases (89.0%) of bone marrow suppression, 35 cases (47.9%) of organ dysfunction, 22 cases (30.1%) of tumor lysis syndrome,etc. There were 7 cases of chemotherapy delay in group B, which were seen in COPADM (vincristine+cyclophosphamide+prednisone+daunorubicin+methotrexate+intrathecal injection,4 cases) and CYM (methotrexate+cytarabine+intrathecal injection,3 cases) stages. There were 66 cases of chemotherapy delay in group C, which were common in COPADM (28 cases) and CYVE 1 (low dose cytarabine+high dose cytarabine+etoposide+methotrexate, 12 cases) stages. Multinomial Logistic regression analysis showed that the age over 10 years old ( OR=0.54,95% CI 0.30-0.93), tumor lysis syndrome before chemotherapy ( OR=0.48,95% CI 0.27-0.84) and grade Ⅲ-Ⅳ myelosuppression after chemotherapy ( OR=0.55,95% CI 0.33-0.91)were independent risk factors for chemotherapy delay.The 3-year OS rate and the 3-year EFS rate of children with Burkitt lymphoma in the delayed chemotherapy group were lower than those in the non-delayed chemotherapy group ((79.4±4.9)% vs. (94.2±1.1)%, (80.2±4.8)% vs. (92.0±1.2)%,both P<0.05). The 3-year OS rate of the group C with chemotherapy delay >7 days (42 cases) was lower than that of the group with chemotherapy delay of 1-7 days (22 cases) and the non-delay group (399 cases) ((76.7±6.9)% vs. (81.8±8.2)% vs. (92.7±1.3)%, P=0.002).The 3-year OS rate of the chemotherapy delay group (9 cases) in the COP (vincristine+cyclophosphamide+prednisone) phase was lower than that of the non-chemotherapy delay group (454 cases) ((66.7±15.7)% vs. (91.3±1.4)%, P=0.005). Similarly, the 3-year OS rate of the chemotherapy delay group (11 cases) in the COPADM1 phase was lower than that of the non-chemotherapy delay group (452 cases) ((63.6±14.5)% vs. (91.5±1.3)%, P=0.001). Conclusions:The delayed chemotherapy was related to the age over 10 years old, tumor lysis syndrome before chemotherapy and grade Ⅲ-Ⅳ myelosuppression after chemotherapy in pediatric BL. There is a significant relationship between delayed chemotherapy and prognosis of BL in children.

Objective:To explore the clinical and genetic features of two Chinese pedigrees affected with Autosomal dominant intellectual developmental disorder 49 (MRD49).Methods:Two MRD49 pedigrees which were admitted to the Children′s Hospital Affiliated to Shandong University respectively on January 28, 2021 and November 10, 2022 were selected as the study subjects. Clinical data of the two pedigrees were collected and analyzed. Genomic DNA was extracted from peripheral blood samples of the probands and their family members. The probands were subjected to mutational analysis by high-throughput sequencing. Candidate variants were validated using real-time fluorescence quantitative PCR (q-PCR) or Sanger sequencing and bioinformatic analysis. This study was approved by the Medical Ethics Committee of the Children′s Hospital Affiliated to Shandong University (No. SDFE-IRB/T-2022002).Results:Proband 1 had presented with language delay, motor retardation and intellectual disability, and his maternal grandmother, mother, aunt and cousin all had various degrees of intellectual disability. Sequencing results showed that proband 1 had deletion of exons 3 ~ 7 of the TRIP12 gene. q-PCR verification showed that his mother, aunt, maternal grandmother and cousin had all harbored the same deletion. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+ PM2_Supporting+ PP1). Proband 2, who had mainly presented with language delay, motor retardation and intellectual disability, and was found to harbor a heterozygous c.3010C>T (p.Arg1004*) variant of the TRIP12 gene, which was verified to be de novo in origin. Based on the guidelines from the ACMG, the variant was classified as pathogenic (PVS1+ PS2+ PM2_Supporting). Conclusion:This study had diagnosed two MRD49 families through high-throughput sequencing. Above findings have enriched the phenotypic and mutational spectrum of MRD49 in China, which has also facilitated genetic counseling for the two pedigrees.

Objective:To establish a lumbosacral triangle (composed of L 5 transverse process, S 1 superior articular process, sacral ala and iliac crest) classification and to guide L 5S 1 endoscopic surgery. Methods:A total of 647 patients with low back pain who admitted to Tianjin Hospital from January 2016 to October 2018 were retrospectively analyzed, including 315 males and 332 females, aged 42.9±15.1 years (range, 19-74 years). The L 5 transverse process sacral distance (TSD), inter trans-verse process length (ITL), interlaminar width (ILW), interlaminar height (ILH), iliosacral angle (ISA), iliac crest height (IH), intervertebral space height (ISH), intervertebral foramen height (IFH), and intervertebral foramen width (IFW) were measured based on lumbar spine anterior-posterior and lateral radiographs. Spearman correlation analysis and hierarchical cluster analysis were used to establish the lumbosacral triangle classification. A total of 822 patients underwent endoscopic L 5S 1 surgery based on lumbosacral triangle classification guidance and verification in Tianjin Hospital from January 2020 to December 2022, including 421 males and 401 females, aged 45.1±16.7 years (range, 15-79 years). The visual analogue scale (VAS) and Oswestry disability index (ODI) were compared before and after surgery, and the Macnab criteria were used to assess surgical outcomes. Results:Spearman correlation analysis showed positive correlations between IH and ISA ( r=0.75, P<0.001), IFH and IFW ( r=0.60, P<0.001), TSD and IFH ( r=0.53, P<0.001), and TSD and IFW ( r=0.40, P<0.001). There was a negative correlation between TSD and IH ( r=-0.46, P<0.001), TSD and ISA ( r=-0.42, P<0.001), IFW and ISA ( r=-0.41, P<0.001), IFW and IH ( r=-0.50, P<0.001), IFH and IH ( r=-0.42, P<0.001). According to Spearman correlation analysis, hierarchical cluster analysis and receiver operating characteristic curve, lumbosacral angle was divided into three types: Type 1, L5 transverse process overlapped with sacral alar; Type 2, 07 mm. Based on lumbosacral triangle classification, different endoscopic techniques were used at L5S1 in 822 patients, including interlaminar approach single-axis endoscopy, trans-foraminal approach single-axis endoscopy, trans-foraminal fenestration approach mobile microendoscopy and unilateral biportal endoscopy, the VAS and ODI of all the patients decreased than those preoperative in immediate postoperative period, half a year postoperative period and the final follow up, and the difference was statistically significant ( P<0.05). At the last follow-up, the Macnab score was excellent in 278 cases, good in 475 cases, and fair in 69 cases, with an excellent and good rate of 91.6% (753/822). Conclusion:Lumbosacral triangle classification is simple and practical, and can effectively guide L5S1 endoscopic surgery.

Objective:To establish an artificial intelligence-based surgical selection system utilizing deep learning to assist in the decision-making process for lumbar endoscopic surgery.Methods:General data of 1,110 patients who underwent percutaneous transforaminal endoscopic discectomy, 804 patients who underwent percutaneous interlaminar endoscopic discectomy, 923 patients who underwent mobile microendoscopic discectomy and 623 patients who underwent unilateral biportal endoscopic in Tianjin Hospital from January 2018 to June 2023 were included in the study. Clinical outcomes were assessed using the visual analogue scale (VAS) for leg and back pain, the Oswestry disability index (ODI), and MacNab criteria both before surgery and 12 months postoperatively. Using a random number table method, patients were divided into a training dataset (2,768 cases) and a test dataset (692 cases) at a ratio of 4∶1. Patient clinical symptoms, physical signs, and multi-modal imaging data were input into a deep learning model. This model was structured into three main modules: intervertebral disc detection, surgical necessity identification, and surgical recommendation. The final surgical method was determined using a convolutional neural network incorporating U-Net for segmentation and ResNet for classification. The accuracy and recall rates of each module were evaluated using the test dataset.Results:Compared to preoperative values, all patients showed significant improvements at the 12-month postoperative follow-up. For patients who underwent percutaneous transforaminal endoscopic discectomy, percutaneous interlaminar endoscopic discectomy, mobile microendoscopic discectomy, and unilateral biportal endoscopic surgery, the VAS scores for leg pain decreased from 7.69±0.80, 7.82±0.88, 7.62±0.69, and 7.56±1.00 preoperatively to 1.44±1.09, 1.35±0.82, 1.51±1.08, and 1.43±0.91 postoperatively. Similarly, the VAS scores for back pain decreased from 5.73±0.83, 6.17±0.99, 6.11±0.88, and 6.46±0.95 to 0.93±0.75, 1.01±0.67, 1.40±0.72, and 1.27±0.70, respectively. Additionally, the ODI significantly decreased from 39.91%±4.50%, 40.05%±8.05%, 47.08%±9.50%, and 44.43%±4.71% preoperatively to 5.77%±2.22%, 6.05%±2.31%, 8.51%±2.16%, and 9.51%±3.70% postoperatively, with all differences being statistically significant ( P<0.05). The excellent rate according to the MacNab criteria was 93.12% (3,222/3,460). In the deep learning model, the multi-modal data of 2,768 patients were input in the training set for deep learning to form a surgical identification and operation recommendation system, and the preoperative data of 692 patients were input in the test set to compare with the final operation method. In the intervertebral disc location module, the accuracy of location and designation of the five lumbar intervertebral discs was 97.1%(672/692). In the module of intervertebral disc need for surgery, the accuracy was 94.8%(3,280/3,460) and the recall rate was 91.9%(636/692). As for patients, the accuracy rate was 91.9%(636/692). In the operation recommendation module, the accuracy rate of operation recommendation based on intervertebral disc was 89.5%(569/636), and the accuracy rate of surgical recommendation based on patient was 82.2%(569/692). Conclusion:In this study, an artificial intelligent surgical procedures selection system based on deep learning was established, which could effectively integrate relevant data and accurately guide the selection of lumbar endoscopic surgery.

Objective:To explore the epileptogenic network patterns in 14 patients with mesial temporal lobe epilepsy (mTLE) originating from the amygdala.Methods:A total of 14 patients with mTLE originating from the amygdala underwent preoperative evaluation in Department of Epilepsy, Guangdong Sanjiu Brain Hospital from January 1, 2019 to December 31, 2023 were selected. A retrospective analysis was performed on the clinical data of these patients. Epileptogenic network patterns were further explored based on stereo-electroencephalogram (SEEG) and positron emission tomography-computed tomography (PET-CT).Results:Craniocerebral MRI indicated 12 patients with unilateral amygdala hypertrophy, and 2 with increased T2-FLAIR signal in the amygdala but no obvious volume change. During interictal period, scalp EEG indicated discharges in one or both temporal regions and distinguished at the lesion side. During ictal period, scalp EEG indicated that the initial side is consistent with the lesion side. Three clinical phenotypes and epileptogenic network patterns were summarized: the first type ( n=5) had clinical manifestations as aura→automotor→autonomic symptoms, with epileptic seizure starting from amygdala→hippocampus→preinsula→temporal pole (by SEEG) and low metabolism in the medial structures of the temporal lobe (by PET-CT); the second type ( n=6) had clinical manifestations as aura→hypermotor/complex motor→autonomic symptoms, with epileptic seizure starting from amygdala→hippocampus→temporal pole→frontal orbital gyrus and anterior cingulate cortex→insula (by SEEG) and low metabolism in the medial structures of the temporal lobe, temporal pole, insula, frontal-orbital gyrus, and inner frontal lobe (by PET-CT); the third type ( n=3) had clinical manifestations as aura→bilateral symmetrical dystonia→autonomic symptoms (with or without oral-alimentary automotor), with epileptic seizure starting from amygdala→hippocampus and insula→temporal pole and adjacent temporal neocortex (by SEEG) and low metabolism in the mesial structures of the temporal lobe and the insula (by PET-CT). Conclusion:The different clinical phenotypes of patients with mTLE originating from the amygdala may have equivalent epileptogenic network patterns.

OBJECTIVE: To explore the clinical and genetic characteristics of a very early-onset inflammatory bowel disease (VEO-IBD) type 28 child with atypical clinical manifestations. METHODS: A VEO-IBD type 28 child with atypical clinical manifestations admitted to the Department of Neonatology, Children's Hospital Affiliated to Shandong University on November 5, 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral venous blood samples of the child and his parents were collected for high-throughput sequencing. Candidate variants were verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 50-day-old male, had manifested bronchitis, ulcerative stomatitis, eczema and slightly loose stool. High-throughput sequencing revealed that he has harbored compound heterozygous variants of the IL-10RA gene, namely c.299T>G (p.V100G) and c.301C>T (p.R101W), which were inherited from his father and mother, respectively. Bioinformatic analysis showed that both variants have been recorded in the HGMD database, though the c.299T>G variant has not been included in the gnomAD, 1000 Genomes, ExAC and ESP6500 databases, while the c.301C>T variant has a low population frequency. Both variants were predicted to be deleterious by the online software including SIFT, PolyPhen-2 and Mutation Taster. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be pathogenic (PS3+PM2_Supporting+PP3). CONCLUSION The c.299T>G and c.301C>T variants of the IL-10RA gene probably underlay the VEO-IBD type 28 in this child. Above finding has expanded the phenotypic spectrum of VEO-IBD type 28 due to variants of the IL-10RA gene and provided a reference for the clinical diagnosis of this disease.
Humans ; Child ; Male ; Computational Biology ; Diarrhea ; Gene Frequency ; Inflammatory Bowel Diseases/genetics* ; Mutation

Objective:To investigate the effect of unilateral biportal endoscopy (UBE) through extraforaminal approach in the treatment of extra canal lumbosacral nerve entrapment.Methods:Seventeen patients with extra canal lumbosacral nerve root entrapment were treated by UBE through extraforaminal approach in Tianjin Hospital from January 2020 to March 2022, including 9 males and 8 females with an average age of 59.2 years (range 45-71 years). All 17 patients had lower limb radiation pain, numbness, and weakness with or without intermittent claudication. MRI imaging examination showed L 4, 5 foramen stenosis with far lateral disc herniation in 2 case, and L 5S 1 foramen stenosis with far lateral disc herniation in 15 cases, and the height of intervertebral space decreased, resulting in the compression of exiting nerve root and ganglion. Among them, far-out syndrome was diagnosed in 7 cases and transitional lumbarsacral vertebrae was found in 12 cases. The incisions were designed 2 cm away form the projection of adjacent pedicles, while incision at S 1 was designed at the inner edge of the iliac bone due to the shielding of the ilium, taking the outer edge of the isthmus at the outer opening of the intervertebral foramen as the target of channels. The ventral and apical part of superior articular process (SAP) was gradually removed with high-speed burr from its outer edge and isthmus, and the occluded sacral ala and the lower edge of transverse process were removed when necessary. The hyperplastic ligament was removed to expose the exiting nerve root. The protruding intervertebral disc was removed at the ventral side of the nerve root. The far-out syndrome was decompressed laterally along the exiting nerve root until it is completely released. The results and stability were evaluated with visual analogue scale (VAS), Oswestry disability index (ODI), Macnab scores and dynamic X-ray film during follow-up. Results:The operation time was 45-85 min, with an average of 60 min. After remove of the SAP tip and enlarge of the intervertebral foramen, the exiting nerve root and disc protrusion were fully exposed, the exiting nerve root was exposed and released laterally until totally release without entrapment in far out syndrome, and the nerve could be decompressed completely. The symptoms were significantly relieved after operation, and imaging examination showed that facet joints were preserved. During follow-up, the pain and function improved continuously. At final follow-up, the improve rate of VAS and ODI were 85.2% and 86.2%, respectively, and the results were excellent in 15 cases and good in 2 case according to Macnab score, and there was no lumbar instability on dynamic lumbar X-ray film.Conclusion:Extra canal lumbosacral nerve entrapment can be treated by UBE through extraforaminal approach, with sufficient exposure, complete decompression and better preservation of lumbar stability.

Purpose: This study explored the performance of prenatal ultrasonography in the differential diagnosis of cystic biliary atresia (CBA) and choledochal cyst (CC). Methods: Fetuses diagnosed with hepatic hilar cyst in the second trimester were included in this study. A series of prenatal ultrasound examinations were performed in the second and third trimesters. The diameter of the gallbladder (GB) and hepatic cyst were measured, as well as the wall thickness of the GB. The GB-cyst connection, visibility of the right hepatic artery (RHA), and other concomitant abnormalities were carefully evaluated. A neonatal transabdominal ultrasound examination was performed within 1 week after birth, and clinical data were followed up to 6 months after birth. Results: Between January 1, 2016 and January 31, 2020, 53 fetuses diagnosed with hepatic hilar cyst were recruited. Eight were excluded because they were lost to follow-up. Among the 45 cases included in this study, 10 were diagnosed with CBA and 35 with CC after birth. Statistically significant differences were found in GB width, wall thickness, change in GB width, change in cyst length, GB-cyst connection, and RHA visibility between the CBA and CC groups. GB width showed the best diagnostic performance with an area under the curve (AUC) of 0.899. The combination of GB width, GB wall thickness, and GB-cyst connection yielded a comparable AUC of 0.971. Conclusion The GB should be carefully evaluated in fetuses with hepatic hilar cyst. Prenatal ultrasound findings could provide suggestive parameters for the differential diagnosis of CBA from CC.

OBJECTIVE: To explore the genetic basis for a child featuring congenital insensitivity to pain (CIP). METHODS: Targeted capture and next generation sequencing (NGS) was carried out for the proband. Suspected pathogenic variants were confirmed by Sanger sequencing of the proband and his parents. RESULTS: The proband was found to harbor compound heterozygous variants of SCN9A gene, namely c.1598delA (p.N533Ifs*31) and c.295_296delCGinsAT (p.R99I), which were respectively inherited from his father and mother. Both variants were predicted to be pathogenic, and neither was reported previously. CONCLUSION The compound heterozygous variants of the SCN9A gene probably underlay the CIP in this child. Above finding has enabled genetic counseling for this family.
Channelopathies ; Child ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; NAV1.7 Voltage-Gated Sodium Channel/genetics* ; Pain Insensitivity, Congenital/genetics*