Objective:To explore a selective resection strategy for combined lumbosacral hemivertebra (LSHV) and thoracolumbar hemivertebra/lumbar hemivertebra (TLHV/LHV) double-balanced hemivertebra deformities.Methods:A retrospective analysis was conducted on 21 patients aged over 10 years with lumbosacral and thoracolumbar or lumbar combined hemimetameric segmental shift (HMMS) deformities who underwent surgery at Nanjing Drum Tower Hospital between May 2009 and October 2022. The cohort included 7 males and 14 females, with a mean surgical age of 21.5±10.9 years (range: 12-55 years) and a mean follow-up duration of 32.8±15.9 months (range: 24-74 months). Patients were divided into two groups based on preoperative coronal balance: the balanced group (Type A) and the unbalanced group (Type C). Radiographic parameters, including the major Cobb angle, lumbosacral take-off angle, kyphotic angle, coronal balance distance (CBD), and the deviation of the upper instrumented vertebra (UIV), were measured preoperatively, postoperatively, and at the final follow-up. Surgical complications were also recorded.Results:Of the 21 patients, 11 were classified as preoperatively balanced, and 10 as unbalanced. The deformity angular ratio of thoracolumbar to lumbosacral curves was significantly higher in the balanced group than in the unbalanced group (0.9±0.3 vs. 0.6±0.2; t=2.143, P=0.045). The preoperative main curve Cobb angles in the balanced and imbalanced groups were 71.3°±22.3° and 58.6°±8.2°, respectively. One week postoperatively, these angles were reduced to 38.4°±17.6° and 31.3°±5.6°, and were maintained at 40.0°±18.1° and 32.6°±5.6° at the final follow-up, all differences were statistically significant ( P<0.05). The preoperative lumbosacral take-off angles were 37.5°±9.1° in the balanced group and 36.7°±7.7° in the imbalanced group, which decreased to 18.4°±9.4° and 19.2°±5.5° at 1 week postoperatively, and remained at 19.4°±10.1° and 19.6°±5.8° at the final follow-up. These changes were also statistically significant ( P<0.05). In the balanced group, the UIV tilt angle, the CBD and the deviation of the UIV, were all significantly reduced compared to preoperative values ( P<0.05). Among the 21 patients, LSHV resection was performed in 15 cases, and TLHV/LHV resection was performed in 7 cases. Among the 15 patients with kyphosis, TLHV/LHV resection was performed in 6 cases. In the balanced group, 9 patients maintained type A postoperatively, including 4 patients with LSHV resection, 2 with TLHV/LHV resection, 2 with both LSHV and TLHV/LHV resection, 1 without resection of both hemivertebra. Two patients in the balanced group who underwent TLHV/LHV resection experienced postoperative deterioration to type C. In the unbalanced group, 8 cases with LSHV resection improved to type A, while 1 case with LSHV resection and 1 case with neither resection maintained C-type. In the LSHV resection group, CBD improved from 29.8±15.2 mm to 13.9±5.7 mm postoperatively and remained stable at 14.6±8.6 mm at final follow-up. Only 1 patient in this group experienced worsened coronal imbalance. In contrast, in the non-LSHV resection group, CBD worsened from 17.2 ± 8.7 mm to 19.7±12.1 mm postoperatively, progressing further to 20.5±13.0 mm at follow-up. Three patients in this group had worsening coronal imbalance, and 2 required revision surgery. Reported complications included 3 cases of internal fixation fracture, 1 case of proximal junctional kyphosis, and 1 case of acute incision infection. Conclusions:Effective resection of lumbosacral hemivertebrae is the preferred selective strategy, particularly for patients with preoperative coronal imbalance, as it significantly reduces the risk of worsening coronal imbalance and internal fixation-related complications. However, selective resection involving only TLHV or LHV without addressing LSHV in preoperatively balanced patients may increase the risk of postoperative coronal imbalance.

Objective:To analyze the selection of internal fixation methods, surgical outcomes, and complications in patients with Neurofibromatosis Type 1 (NF1) accompanied by dystrophic lumbosacral deformities, and to evaluate the indications for pelvic fixation.Methods:A retrospective analysis was conducted on 21 patients with NF1 and associated dystrophic lumbosacral malformations (L 4 to sacrum) who underwent spinal deformity correction surgery at Nanjing Drum Tower Hospital from January 2009 to November 2022. The cohort included 11 males and 10 females, with a mean surgical age of 15.4±4.7 years (range, 7-24 years). Patients were divided into two groups based on whether pelvic fixation was performed: 10 patients in the non-pelvic fixation group (NP group) and 11 in the pelvic fixation group (P group), where fixation involved second sacral alar-iliac (S 2AI) screws or iliac screws. Radiographic parameters, including the Cobb angle of the lumbosacral fractional curve, main curve, and focal kyphosis, were compared preoperatively, postoperatively, and at the last follow-up. Results:The NP group had a significantly lower mean age (13.2±4.9 years) compared to the P group (17.5±3.5 years; t=2.287, P=0.034). Spinal instability (rotational subluxation or spondylolisthesis) due to dystrophic changes was observed in 2 patients in the NP group and 8 in the P group, a statistically significant difference (χ 2=5.838, P=0.030). In the P group, five patients underwent unilateral fixation and six underwent bilateral fixation. Implant types included 2 cases with iliac screws, 1 case with iliac screws plus S 2AI, and 8 cases with S 2AI screws alone. The utilization rate of hooks was significantly higher in the NP group (12.6%±11.5%) compared to the P group (3.5%±6.9%; t=2.230, P=0.038). The preoperative Cobb angle of the lumbosacral fractional curve was significantly smaller in the NP group (13.8°±9.0°) than in the P group (25.5°±13.9°; t=2.228, P=0.039). Postoperatively, the angles were corrected to 6.3°±6.1° and 6.4°±5.3°, respectively ( t=0.901, P=0.969), with correction rates of 57.3%±13.6% and 74.1%±17.8% ( t=2.369, P=0.029). At final follow-up, the angles remained stable (6.6°±6.6° vs. 6.3°±4.8°; t=0.116, P=0.909). For the main curve, preoperative Cobb angles were 52.5°±15.1° (NP) and 61.1°±16.9° (P; t=1.200, P=0.246), corrected to 31.3°±13.8° and 28.0°±8.4°, respectively ( t=0.646, P=0.526). Correction rates were 41.3%±13.0% in the NP group and 53.2%±11.6% in the P group ( t=2.206, P=0.037). At the final follow-up, these values were 32.4°±14.2° and 31.7°±10.3° ( t=0.133, P=0.896). Focal kyphosis, seen in 9 patients, was corrected from 19.7°±10.9° preoperatively to -13.6°±9.5° postoperatively, and remained at -14.1°±9.6° at the final follow-up ( F=33.547, P<0.001). Multi-rod systems were used in 6 cases (NP group) and 7 cases (P group), with no significant difference (χ 2=0.153, P=0.926). Two patients in the NP group developed coronal decompensation three years postoperatively, and one required revision surgery. In the P group, rod breakage occurred in 3 patients, two of whom underwent revision. Conclusions:Dystrophic rotational subluxation or spondylolisthesis of the lumbosacral spine is a primary indication for pelvic fixation in patients with NF1-associated deformities. However, complications related to internal fixation remain common. The combined use of a multi-rod screw-hook hybrid system, particularly when extending across the lumbosacral region, may reduce the risk of instrumentation failure.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

Objective: To assess the effectiveness of vertebral cement augmentation (VCA) at upper instrumented vertebra (UIV) and UIV+1 in preventing proximal junction complications in correction surgery for adult spinal deformity patients. Methods: A literature search was conducted on Web of Science, PubMed, and Cochrane Library databases for comparative studies published before December 30th, 2024. Two reviewers independently screened eligible articles based on the inclusion and exclusion criteria, assessed study quality with Newcastle-Ottawa scale, and extracted data like study characteristics, surgical details, primary and secondary outcomes. Data analysis was performed using Review Manager 5.4 and Stata software. Results: Of all 513 papers screened, a meta-analysis was conducted on 7 articles, which included 333 cases in the VCA group and 827 cases in the control group. Patients in the VCA group had significantly older age and lower T score than patients in the control group. Although there was no statistically significant difference in the incidence of proximal junctional failure between the 2 groups, the results of the meta-analysis showed that the incidence of proximal junctional failure and the need for revision surgery were reduced by 36% and 71%, respectively, in the VCA group. One study reported 2 clinically silent pulmonary cement embolism and 1 patient requiring surgical decompression for cement leak into the spinal canal. Conclusion This meta-analysis supported the use of VCA in corrective surgery for spinal deformities patients, especially in patients with advanced age and osteoporosis.

Objective: To assess the effectiveness of vertebral cement augmentation (VCA) at upper instrumented vertebra (UIV) and UIV+1 in preventing proximal junction complications in correction surgery for adult spinal deformity patients. Methods: A literature search was conducted on Web of Science, PubMed, and Cochrane Library databases for comparative studies published before December 30th, 2024. Two reviewers independently screened eligible articles based on the inclusion and exclusion criteria, assessed study quality with Newcastle-Ottawa scale, and extracted data like study characteristics, surgical details, primary and secondary outcomes. Data analysis was performed using Review Manager 5.4 and Stata software. Results: Of all 513 papers screened, a meta-analysis was conducted on 7 articles, which included 333 cases in the VCA group and 827 cases in the control group. Patients in the VCA group had significantly older age and lower T score than patients in the control group. Although there was no statistically significant difference in the incidence of proximal junctional failure between the 2 groups, the results of the meta-analysis showed that the incidence of proximal junctional failure and the need for revision surgery were reduced by 36% and 71%, respectively, in the VCA group. One study reported 2 clinically silent pulmonary cement embolism and 1 patient requiring surgical decompression for cement leak into the spinal canal. Conclusion This meta-analysis supported the use of VCA in corrective surgery for spinal deformities patients, especially in patients with advanced age and osteoporosis.

OBJECTIVES: To summarize the clinical and genetic characteristics of end-stage renal disease caused by PLCE1 gene mutations. METHODS: A retrospective analysis of the clinical and genetic features of three children from a family with PLCE1 gene mutations was conducted, along with a literature review of hereditary kidney disease cases caused by PLCE1 gene mutations. RESULTS: The proband was an 8-year-old male presenting with nephrotic syndrome stage 4 chronic kidney disease. Renal biopsy showed focal segmental glomerulosclerosis. Two years and five months after kidney transplantation, the patient had persistent negative proteinuria and normal renal function. Whole-exome sequencing identified two pathogenic heterozygous variants: c.961C>T and c.3255_3256delinsT, with c.3255_3256delinsT being a novel mutation. Family screening revealed no renal involvement in the parents, but among five siblings, one brother died at age of 4 years from end-stage renal disease. A 7-year-old sister presented with proteinuria and bilateral medullary sponge kidney, with proteinuria resolving after one year of follow-up. A 3-year-old brother died after kidney transplantation due to severe pneumonia. The literature review included 45 patients with hereditary kidney disease caused by PLCE1 gene mutations. The main clinical phenotype was nephrotic syndrome (87%, 39/45), and renal pathology predominantly showed focal segmental glomerulosclerosis (57%, 16/28). No mutation hotspots were identified. CONCLUSIONS Compound heterozygous mutations in the PLCE1 gene can lead to rapid progression of the disease to end-stage renal disease, with favorable outcomes following kidney transplantation. Family screening is crucial for early diagnosis, and medullary sponge kidney may be a novel phenotype associated with these gene mutations.
Humans ; Male ; Proteinuria/genetics* ; Kidney Failure, Chronic/etiology* ; Child ; Mutation ; Female ; Child, Preschool ; Retrospective Studies ; Phosphoinositide Phospholipase C

OBJECTIVE: To investigate the short-term efficacy and safety of low-dose venetoclax combined with CHG (cytarabine+homoharringtonine+G-CSF) priming regimen in patients with acute myeloid leukemia (AML) and high-risk myelodysplastic syndrome (MDS) ineligible for intensive chemotherapy. METHODS: The data of 14 patients with AML or high-risk MDS admitted to the department of hematology/oncology of the First Hospital of Tsinghua University and 2 cooperative institutions from July 2022 to August 2023 were retrospectively analyzed. All the patients were treated with low-dose venetoclax combined with CHG priming regimen and the early induction (one course) efficacy and adverse reactions were observed. RESULTS: Among the 14 patients, 10 were males and 4 were females, with a median age of 69.5 (46-83) years. After 1 cycle of induction chemotherapy, the complete remission (CR) rate was 64.3% (9/14) and overall response rate (ORR) was 78.6% (11/14). Among the 10 patients with adverse prognosis according to cytogenetics and molecular genetics, the CR rate was 50.0% (5/10), and ORR was 70.0% (7/10). In 7 patients with TP53 mutation, the CR rate was 42.9% (3/7) and ORR was 71.4% (5/7). In the 6 patients with complex karyotype, CR rate was 33.3% (2/6) and ORR was 66.7% (4/6). While the CR rate and ORR of 8 non-complex karyotype patients were both 87.5% (7/8), and the difference in CR rate between patients with complex karyotype and non-complex karyotype was statistically significant ( P < 0.05). The adverse reactions of chemotherapy were tolerable, without early treatment-related deaths. CONCLUSION Low-dose venetoclax combined with CHG priming regimen can be used as an effective treatment for AML and high-risk MDS patients who are ineligible for intensive chemotherapy, and it is safe and worthy of clinical application.
Humans ; Leukemia, Myeloid, Acute/drug therapy* ; Aged ; Male ; Female ; Sulfonamides/therapeutic use* ; Middle Aged ; Myelodysplastic Syndromes/drug therapy* ; Bridged Bicyclo Compounds, Heterocyclic/therapeutic use* ; Aged, 80 and over ; Retrospective Studies ; Cytarabine/administration & dosage* ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use* ; Homoharringtonine/therapeutic use*

Objective: To assess the effectiveness of vertebral cement augmentation (VCA) at upper instrumented vertebra (UIV) and UIV+1 in preventing proximal junction complications in correction surgery for adult spinal deformity patients. Methods: A literature search was conducted on Web of Science, PubMed, and Cochrane Library databases for comparative studies published before December 30th, 2024. Two reviewers independently screened eligible articles based on the inclusion and exclusion criteria, assessed study quality with Newcastle-Ottawa scale, and extracted data like study characteristics, surgical details, primary and secondary outcomes. Data analysis was performed using Review Manager 5.4 and Stata software. Results: Of all 513 papers screened, a meta-analysis was conducted on 7 articles, which included 333 cases in the VCA group and 827 cases in the control group. Patients in the VCA group had significantly older age and lower T score than patients in the control group. Although there was no statistically significant difference in the incidence of proximal junctional failure between the 2 groups, the results of the meta-analysis showed that the incidence of proximal junctional failure and the need for revision surgery were reduced by 36% and 71%, respectively, in the VCA group. One study reported 2 clinically silent pulmonary cement embolism and 1 patient requiring surgical decompression for cement leak into the spinal canal. Conclusion This meta-analysis supported the use of VCA in corrective surgery for spinal deformities patients, especially in patients with advanced age and osteoporosis.

Objective: To assess the effectiveness of vertebral cement augmentation (VCA) at upper instrumented vertebra (UIV) and UIV+1 in preventing proximal junction complications in correction surgery for adult spinal deformity patients. Methods: A literature search was conducted on Web of Science, PubMed, and Cochrane Library databases for comparative studies published before December 30th, 2024. Two reviewers independently screened eligible articles based on the inclusion and exclusion criteria, assessed study quality with Newcastle-Ottawa scale, and extracted data like study characteristics, surgical details, primary and secondary outcomes. Data analysis was performed using Review Manager 5.4 and Stata software. Results: Of all 513 papers screened, a meta-analysis was conducted on 7 articles, which included 333 cases in the VCA group and 827 cases in the control group. Patients in the VCA group had significantly older age and lower T score than patients in the control group. Although there was no statistically significant difference in the incidence of proximal junctional failure between the 2 groups, the results of the meta-analysis showed that the incidence of proximal junctional failure and the need for revision surgery were reduced by 36% and 71%, respectively, in the VCA group. One study reported 2 clinically silent pulmonary cement embolism and 1 patient requiring surgical decompression for cement leak into the spinal canal. Conclusion This meta-analysis supported the use of VCA in corrective surgery for spinal deformities patients, especially in patients with advanced age and osteoporosis.

Objective To investigate the efficacy of lacosamide combined with ketogenic diet in the treatment of pediatric epilepsy and its impacts on the levels of serum glial fibrillary acidic protein(GFAP)and specific protein of the central nervous system(S-100β).Methods A total of 64 chil-dren with epilepsy from July 2022 to April 2024 were selected and randomly divided into conventional group(n=32)receiving oral lacosamide tablets and combined group(n=32)receiving ketogenic di-et therapy based on the conventional group.The efficacy,cognitive function,and intelligence of chil-dren in both groups after treatment,as well as the levels of serum GFAP and S-100β,the frequency of seizures,and electroencephalogram(EEG)findings before and after treatment were evaluated.Results After treatment,the number of alpha waves,the Full-scale Intelligence Quotient(FIQ)of the Wechsler Intelligence Scale for Children,and the Montreal Cognitive Assessment(MoCA)scores increased in both groups,with a greater increase in the combined group compared to the conventional group,and the differences were statistically significant(P＜0.05).The levels of serum S-100β and GFAP,the frequency of seizures,and the number of cases with slow waves and epileptiform waves decreased after treatmen,and these indicators were lower in the combined group than in the conventional group,with sta-tistically significant differences(P＜0.05).The total effective rate was 90.63％in the combined group and 68.75％in the conventional group,with a statistically significant difference(P＜0.05).The incidence of adverse reactions was 12.50％in the combined group and 9.38％in the conventional group,with no statistically significant difference(P＞0.05).Conclusion Lacosamide combined with ketogenic diet shows good efficacy in the treatment of pediatric epilepsy,and the combined therapy improves neurological function by synergistically reducing the levels of GFAP/S-100β.