BACKGROUND:Currently,spinal endoscopic technology has become the mainstream technology in minimally invasive spinal surgery.The specifications of the instruments for different operating systems are different,and the choice of specific surgical protocols needs to be combined with the actual situation of the patient and the choice of the clinical surgeon. OBJECTIVE:To compare the early efficacy of percutaneous endoscopic interlaminar discectomy for L5-S1 disc herniation under the iLESSYS Delta System and Endo-Surgi Plus System. METHODS:Totally 80 patients with L5-S1 disc herniation were treated with percutaneous endoscopic interlaminar discectomy.Patients were divided into two groups based on the endoscopic system used.Among them,37 cases received the iLESSYS Delta System(Delta group)and 43 cases received the Endo-Surgi Plus System(Plus group).Patient demographic characteristics,perioperative indicators,and complications were analyzed between the two groups.Clinical outcomes were quantified using back and leg visual analog scale scores,Oswestry Disability Index,and Japanese Orthopaedic Association scores at 1 day,1,3,and 6 months after surgery.Patient satisfaction was assessed according to modified MacNab criteria at final follow-up. RESULTS AND CONCLUSION:(1)The operative time and number of arthroplasties in the Plus group were less than those in the Delta group,and the differences were statistically significant(P<0.05).(2)Compared with the preoperative period,the visual analog scale scores,Oswestry Disability Index,and Japanese Orthopaedic Association scores of patients in both groups improved at all follow-up time points,and the difference was statistically significant(P<0.001).(3)There was no statistically significant difference in the comparison of pain visual analog scale scores,Oswestry Disability Index,and Japanese Orthopaedic Association scores of patients in the two groups(P>0.05).(4)At 6-month follow-up after surgery,the MacNab standard excellent and good rates in the Delta group and Plus group were 81%and 79%,respectively,with no significant difference(P=0.823).(5)The incidence of complications was 3%in the Delta group and 2%in the Plus group,but there was no significant difference between the two groups(P=0.914).(6)It is concluded that both iLESSYS Delta and Endo-Surgi Plus surgical systems achieved satisfactory early clinical results in the treatment of lumbar disc herniation,with Endo-Surgi Plus surgical moulding being more efficient and safer.

OBJECTIVE: To explore the genetic basis for a girl with primary microcephaly and growth retardation. METHODS: A girl who was admitted to Guangdong Maternal and Child Health Care Hospital in was selected as the study subject. Peripheral blood samples were collected from the child and her parents. Trio whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing and bioinformatic analysis. This study was approved by the Medical Ethnics Committee of Guangdong Maternal and Child Health Care Hospital (Ethics No. 202201278). RESULTS: DNA sequencing revealed that the child has harbored compound heterozygous variants of the WDR62 gene, including a frameshifting c.2963delC (p.Pro988Argfs*80) variant in exon 24 which was inherited from the unaffected father, and a nonsense c.3163G>T (p.Glu1055*) variant in exon 26, which was inherited from her unaffected mother. Both variants were predicted to affect the reading frame of the WDR62 gene. CONCLUSION Based on the clinical manifestations, results of genetic testing and pedigree analysis, the compound heterozygous variants were predicted to underlay the pathogenesis of microcephaly and growth retardation in this child. Above discovery has expanded the mutational spectrum for WDR62-associated Primary microcephaly type 2, and facilitated genetic counseling for the family.
Female ; Humans ; Cell Cycle Proteins ; Heterozygote ; Microcephaly/genetics* ; Mutation ; Nerve Tissue Proteins/genetics* ; Pedigree

OBJECTIVE: To explore the clinical and genetic characteristics of five fetuses with Harlequin ichthyosis (HI). METHODS: Five fetuses with HI diagnosed at Guangdong Women and Children Hospital between 2017 and 2024 were selected as study subjects. Clinical and laboratory data were collected and reviewed. Whole exome sequencing (WES) was carried out, and candidate variants were verified by bioinformatic analysis. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 202401024). RESULTS: The five fetuses had presented with ectropion, eclabium and contracture and flexion of fingers and toes. WES revealed that all had harbored compound heterozygous or homozygous variants of the ABCA12 gene. Among the eight types of variants, five were unreported previously. CONCLUSION The compound heterozygous or homozygous variants of the ABCA12 gene probably underlay the HI in the five fetuses. Clinicians should be vigilant about the possibility of HI in fetus with ectropion, eclabium, and contracture and flexion of fingers and toes.
Humans ; Ichthyosis, Lamellar/genetics* ; Female ; ATP-Binding Cassette Transporters/genetics* ; Pregnancy ; Genotype ; Phenotype ; Exome Sequencing ; Fetus ; Mutation ; Male ; Adult

Objective To investigate the effects of Huangqin Qingrechubi Capsule(HQC)on inflammation and uric acid and lipid metabolism in rats with gouty arthritis(GA)and its mechanism.Methods SD rat models of GA established by injecting monosodium urate into the right ankle joint were treated with saline,colchicine and HQC at low,medium and high doses(n=10)by gavage for 7 days.Toe swelling of the rats was detected at 4,8,24,48 and 72 h after modeling,and synovial histological changes were observed with HE staining.Serum levels of interleukin-10(IL-10),IL-18,tumor necrosis factor-α(TNF-α),transforming growth factor-β1(TGF-β1),adiponectin,leptin,resistin and visfatin were measured by ELISA,and the levels of high-density lipoprotein cholesterol(HDL-C),triglyceride(TG),total cholesterol(TC),and uric acid(BUA)were detected.RT-qPCR and Western blotting were used to detect the mRNA expressions of phosphatase and tensin homolog(PTEN),phosphatidylinositol-3-kinase(PI3K)and protein kinase B(AKT)and the protein expressions of PTEN,PI3K,p-PI3K,AKT and p-AKT.Results The rat models of GA showed obvious toe swelling,which reached the peak level at 48 h.HE staining revealed massive inflammatory cell infiltration and synovial tissue hyperplasia.The rat models showed significantly increased expressions of TNF-α,TGF-β1,IL-18,TC,TG,leptin,resistin and visfatin,BUA,p-PI3K,and p-AKT and lowered levels of IL-10,APN,HDL-C,and PTEN.Treatment with HQC and colchicine obviously improved these changes and alleviated synovial pathologies and toe swelling in the rat models.Conclusion HQC can improve inflammation and correct the imbalance of uric acid and lipid metabolism in GA rats possibly by inhibiting the PTEN/PI3K/AKT signaling pathway.

BACKGROUND:In recent years,with the development of 3D printing,surgical surgery has become personalized and accurate.3D printed guide template technique can realize preoperative planning and intraoperative navigation,making surgery more accurate.In clinical orthopedic surgery for moderate and severe stiff scoliosis,there is still a problem that the accuracy of screw placement is not high,resulting in screw loosening and even nerve complications.There are few studies on 3D printed guide template technique to guide screw placement in surgery for severe stiff scoliosis. OBJECTIVE:To evaluate the clinical effect of the 3D printed guide template technique combined with multiple posterior derotation in the treatment of severe rigid scoliosis. METHODS:The clinical data of six patients with severe scoliosis undergoing 3D printed guide template technique of pedicle screw combined with multiple posterior derotation were retrospectively analyzed.There were 3 males and 3 females,with a mean age of(18.17±3.49)years(range,15-23 years).The changes of parameters related to lateral bending were analyzed at postoperative 2 weeks and 18 months,and the results were obtained by statistical analysis. RESULTS AND CONCLUSION:(1)The operation time was 280-540 minutes(mean 340.83±102.20 minutes).The intraoperative blood loss was 1 000-4 000 mL(mean 2 000.00±1 073.70 mL).The fixed segments were 9-14 vertebral bodies(mean 11.83±1.72),and no screw loosening occurred during the operation.(2)All patients were followed up.At postoperative 2 weeks,the anteroposterior and lateral radiography of the whole spine showed that the cobb angle,the distance between the vertical line of C7 on the coronal plane and the median line of S1,the distance between the vertical line of C7 in the sagittal plane and the posterior edge of S1,apical vertebral translation,thoracic kyphosis,and lumbar lordosis were significantly corrected.The average correction rate of the cobb angle in the main curve was 62.22%.After 18 months of follow-up,there was no significant change in all parameters compared with 2 weeks after operation;the orthopedic effect was satisfactory,and there was no infection or internal fixation fracture.(3)There was one case of delayed wound healing;scar healing appeared after dressing change treatment;no neurological complications occurred.(4)The results show that the 3D print-guide template combined with multiple posterior rod derotation technique is safe and effective in the treatment of severe rigid scoliosis,and the correction effect is satisfactory.

Nonalcoholic steatohepatitis(NASH)is a liver disease closely associated with metabolic syndrome,and its pathogenesis includes insulin resistance,lipid metabolism disorders,and inflammatory response.This article briefly describes how CD8+T cells exert a cytotoxic effect through the three pathways of the Fas-Fas ligand signaling pathway,the release of perforin and granzymes,and the secretion of tumor necrosis factor-α and other cytokines,and these mechanisms allow CD8+T cells to specifically kill virus-infected cells and tumor target cells,thereby participating in immune regulation.At the same time,this article summarizes that CD8+T cells promote the recruitment of macrophages cooperate with natural killer T cells to participate in the development of adipose tissue inflammation,and lead to liver injury through automatic attack and epigenetic mechanisms,finally promoting the pathogenesis of NASH.It is concluded that CD8+T cells may become a new therapeutic target for NASH,and in-depth research on the specific mechanism of CD8+T cells affecting the pathogenesis in NASH in the future may help to further guide clinical treatment.

Objective To explore the characteristics of echolalic speech of children with moderate to severe autism spectrum disor-der(ASD)aged three to eight. Methods From January to March,2024,15 minutes rehabilitation course video of five children with moderate to severe ASD aged three to eight were collected in institutional and family settings,respectively.Language sample analy-sis and self-compiled coding were used to analyze the echo speech sample content,structure,and collect their oral language ability.The correlation between the echo speech and case oral language ability was analyzed. Results A total of 235 echoic speech-related speech rounds were recorded.Among them,the ratio of immediacy to de-layed echo speech was 7∶1;one echo speech was found in every two to three speech responses,with average sen-tence length of 2.97 and average word length of 2.23.The frequency of verbs and nouns was high,accounting for 45.03%and 38.48%,respectively;and there were many declarative words and sentences,accounting for 72.58%on average.The type of echo speech structure was the most frequently at the end of the reconstructed discourse,accounting for 29.98%on average.The type,frequency,sentence length,sentence pattern and structure of echoic speech were not significantly different in institutional and family settings.The language ability scores of imita-tion sentence length,word understanding and naming were significantly correlated with the number,frequency,sentence length and sentence type frequency of echoic speech(r>0.881,P<0.01). Conclusion Echoic speech activity in children with moderate to severe ASD aged three to eight shows transsituational stability,and is related with their understanding language and expressive language ability;characterized as instant echo speech,short sentence,the advantage of real words,declarative sentences,often repeat the end of the origi-nal sentence.

The community teaching bases play an important role in training of general practice talents. To raise the training quality, the development of their own capacity is crucial, but community medical institutions also need close cooperation with the departments of general practice in medical schools and the higher-level general hospitals. This article discusses the integration model of management, teaching and research in general practice talent training based on the cooperation of community teaching bases with relevant governmental departments, professional societies/associations, general hospitals and medical schools.

Objective: To analyze the impact of persistent obesity on their lung function, so as to offer insights for implementing intervention measures to increase lung function in obese school age children. Methods: A total of 335 children from the Sheyang Mini Birth Cohort established in 2009 in Yancheng City, Jiangsu Province, who participated in the follow up at the ages of 7 years (2016) and 10 years (2019), were selected as the study participants. Physical measurements including height, weight, and lung function were recorded. According to the World Health Organization standard, that is, gender and age specific to correct the body mass index to calculate the body mass index Z score, was used to evaluate the obesity status of children at the age of 7 and 10. Children were divided into four groups, including sustained non obesity group, restored obesity group, newly classified obesity group, and persistent obesity group. Meanwhile, the lung function prediction equations recommended by the Global Lung Function Initiative were used to standardize the lung function indexes of children. Pulmonary function differences among these groups were examined, and the relationship between childhood obesity and pulmonary function was longitudinally analyzed using generalized estimating equations. Results: The prevalence of obesity were 9.0% and 16.1% at the age of 7 and 10 years, respectively. The proportion of both newly classified and persistent obesity group were 8.1%, respectively. The forced expiratory volume in one second (FEV 1) and forced vital capacity (FVC) were (1 269.90±202.70) and (1 415.70±230.00) mL, respectively, at the age of 7 years. FEV 1 and FVC at the age of 10 years were (1 440.80±403.20) and (1 555.60±517.60) mL, respectively. Cross sectional analysis at age 7 showed that forced expiratory flow at 75% vital capacity (FEF 75 ) ( β=-0.52, 95%CI =-0.96--0.07) and maximal mid expiratary flow (MMEF) ( β=-0.45, 95%CI =-0.89--0.00) were significantly lower in obese children compared to their non obese peers ( P < 0.05). Longitudinal analysis indicated that obese children had lower levels of lung pulmonary function, with a statistically significant difference in FEV 1 ( β=-0.44, 95%CI=-0.85--0.02, P <0.05). There was no significant difference among the various obesity groups ( P >0.05), while gender stratified results revealed significant reductions in FEV 1/FVC in newly classified obese girls at age 10 years ( β=-1.76, 95%CI =-3.13--0.38) and in MMEF in persistently obese girls at age 10 years ( β=-1.44, 95%CI = -2.79- -0.09) ( P <0.05). Conclusion Obesity may contribute to reduced lung function levels in school aged children, with newly classified and persistent obesity having more pronounced effects on lung function in girls.