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 establish a rat model of ovarian endometriosis(EMS)using the horn reversion method,to provide an ideal animal model for exploring the pathogenesis and treatment of EMS.Methods Fifty SPF-grade female SD rats were divided randomly into five groups:a sham group,and 1,2,3,and 4 weeks after surgery groups,respectively(n=10 rats per group).Apart from the sham group,an ovarian-type EMS model was established in the other groups by the uterine horn refracture method,and the modeling success rate,and ectopic foci volume and mass were observed in each group.The morphology of ectopic foci was observed by hematoxylin-eosin(HE),and expression of proliferating cell nuclear antigen(PCNA),Ki67,epithelial cadherin(E-cadherin),and neural cadherin(N-cadherin)in the uterus and ectopic foci tissues were detected by immunohistochemistry.The model was further evaluated and the degree of cell proliferation and epithelial mesenchymal transformation at different times after modeling were analyzed.Results The modeling success rates in the 1,2,3,and 4 weeks after surgery groups were 80%,90%,100%,and 100%,respectively(P＞0.05).The volume and mass of the ectopic foci were significantly greater in the 3 and 4 weeks after surgery groups compared with the 1 and 2 weeks after surgery groups(P＜0.01).HE staining showed endometrial epithelial cells,mesenchymal cells and a few glands in the ectopic foci tissues.Immunohistochemical staining showed that expression levels of Ki67,PCNA,and N-cadherin in uterus tissues were significantly higher(P＜0.05,P＜0.01)in all the model groups compared with the sham group,while expression levels of E-cadherin were significantly lower(P＜0.05,P＜0.01).Expression levels of Ki67,PCNA,and N-cadherin in the uterus and ectopic foci tissues were significantly higher(P＜0.05,P＜0.01)in the 2,3,and 4 weeks after surgery groups compared with the 1 week after surgery group,while expression levels of E-cadherin were significantly lower(P＜0.05,P＜0.01).Conclusion The uterine horn reversion method can be used to establish an ovarian EMS model in rats.Ectopic lesions can be observed 1 week after surgery.The success rate of modeling increases with modeling time,stabilizing at 3 weeks postoperatively.Ki67,PCNA,and N-cadherin were significantly expressed in the uterus and ectopic foci tissues,and their expression levels increased with modeling time,while E-cadherin expression in the uterus and ectopic foci tissues decreased with modeling time.These results showed good modeling success of the EMS rat model,suggesting that it could be used as a stable EMS modeling method.

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.

Objective:To compare the efficacy and safety differences between direct mechanical thrombectomy (abbreviated as direct thrombectomy) and bridging therapy in patients with acute anterior circulation large vessel occlusion and atrial fibrillation.Methods:A retrospective collection of data was conducted for hospitalized patients who underwent mechanical thrombectomy due to acute anterior circulation large vessel occlusion with atrial fibrillation at the First Affiliated Hospital of Soochow University and Suzhou Kowloon Hospital, Shanghai Jiao Tong University School of Medicine from January 1, 2018 to December 31, 2022. Patients were divided into direct thrombectomy and bridging therapy groups based on whether intravenous thrombolysis was used, and the clinical outcomes and safety indicators of the two groups were compared. The primary clinical outcomes included the modified Rankin Scale (mRS) score at 90 days and the proportion of patients with neurological independence at 90 days (the proportion of patients with mRS scores of 0-2). Safety indicators included 90-day mortality rate, intracranial hemorrhage rate, symptomatic intracranial hemorrhage [deterioration of neurological function and an increase of ≥4 points in the National Institutes of Health Stroke Scale (NIHSS) score] rate, and pneumonia incidence. Using the 90-day prognosis as a dependent variable, a binary Logistic regression analysis was conducted to investigate the factors influencing poor prognosis in patients at 90 days.Results:Among the 534 screened patients, 125 were included in the study, with 74 in the direct thrombectomy group and 51 in the bridging therapy group. The difference in the mRS scores at 90 days between the direct thrombectomy group and the bridging therapy group was not statistically significant [2 (0, 3) vs 3 (1, 3), Z=-1.444, P=0.149]. The difference in the proportion of patients with independent neurological function at 90 days [66.2% (49/74) vs 47.1% (24/51), χ2=4.561, P=0.033] was statistically significant between the 2 groups. The 90-day mortality rate [5.4% (4/74) vs 9.8% (5/51), χ 2=0.936, P=0.483], the intracranial hemorrhage rate [17.6% (13/74) vs 29.4% (15/51), χ 2=2.437, P=0.119], the symptomatic intracranial hemorrhage rate [12.2% (9/74) vs 23.5% (12/51), χ 2=2.791, P=0.095], and the pneumonia incidence [59.5% (44/74) vs 56.9% (29/51), χ 2=0.084, P=0.772] between the 2 groups showed no statistically significant differences (all P>0.05). The time from admission to puncture was 97 (74, 122) min and 150 (127, 168) min for the direct thrombectomy and bridging therapy groups, respectively, with a statistically significant difference ( Z=-5.846, P<0.001). Binary Logistic regression analysis showed that venous thrombolysis (adjusted OR=3.004, 95% CI 1.057-8.539, P=0.039), NIHSS score at onset (adjusted OR=1.096, 95% CI 1.009-1.191, P=0.030), and pneumonia (adjusted OR=12.814, 95% CI 3.775-43.499, P<0.001) were associated with poor prognosis at 90 days. Conclusion:For patients with acute anterior circulation large vessel occlusion and atrial fibrillation, direct thrombectomy can increase the proportion of neurological independence at 90 days compared to bridging therapy, with no statistically significant differences in safety indicators, which may be related to the shorter time from admission to puncture in the direct thrombectomy group.

Charcot-Marie-Tooth disease (CMT) is a progressive hereditary peripheral neuropathy characterized by symmetrical distal muscle atrophy, sensory impairment, disappearance of tendon reflexes in both lower limbs, arch foot, claw hand, and scoliosis. This article reports a family of CMT type 4C (CMT4C), whose proband carries a compound heterozygous mutation of c.2782C>T and c.1586G>A in the SH3TC2 gene, with ataxia as the main symptom. The literatures related to CMT4C patients in major databases at home and abroad are summarized to provide reference for early identification and diagnosis of this type of patient.

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 validate the validity of the auricular cartilage fish-shaped framework in comprehensive rhinoplasty for Chinese Han females.Methods:The clinical data of Chinese Han female patients with short nose and saddle nasal deformity undergoing primary rhinoplasty at the Department of Plastic Surgery, the First Affiliated Hospital of Nanchang University, from August 2021 to October 2023, were retrospectively analyzed. Patients underwent comprehensive rhinoplasty, involving the implantation of an auricular cartilage fish-shaped framework at the nasal tip and a dorsal nasal implant on the nasal bridge.Postoperative follow-up monitored for complications. At 6-month postoperatively, a satisfaction survey was conducted among the patients, their family, or friends using a scale where: very satisfied with improvement=4, moderately satisfied with improvement=3, Slightly satisfied with improvement=2, No improvement=1. Additionally, two plastic surgeons evaluated the postoperative outcomes using a scale where: excellent=5, very good=4, good=3, fair=2, poor=1.Preoperative and 6-month postoperative photographs were processed using Image J software to measure the following parameters: nasolabial angle, nasofacial angle, nasofrontal angle, columellar lobular angle, nasal height, and nasal length. Paired t-tests were used for statistical analysis, with P < 0.05 considered statistically significant. Results:A total of 18 patients were included, with a mean age of (26.4 ± 7.2) years (range: 18-45 years). The mean postoperative follow-up duration was (23.0 ± 9.3) months (range: 6 months to 3 years). All patients recovered well, with no severe complications occurring.The mean patient satisfaction score regarding the postoperative outcome was 3.50 ± 0.62. The mean satisfaction score from family or friends was 3.33 ± 0.69. The two evaluating plastic surgeons rated the outcomes as 4.17 ± 0.85 and 3.94 ± 0.93, respectively, both falling between the excellent and very good categories on the assessment scale.Statistically significant differences (all P < 0.01) were found between preoperative and 6-month postoperative measurements for all assessed nasal parameters. Nasolabial angle: 99.68° ± 2.95° vs. 95.37° ± 1.09°; nasofacial angle: 29.47° ± 2.99° vs. 32.82° ± 2.23°; nasofrontal angle: 140.72° ± 5.18° vs. 133.79° ± 4.43°; columellar lobular angle: 44.86° ± 3.43° vs. 39.23° ± 6.44°; nasal height: (57.52 ± 0.60) mm vs. (58.41 ± 0.39) mm; nasal length: (50.08 ± 0.54) mm vs. (50.64 ± 0.31) mm. Conclusion:The use of the auricular cartilage fish-shaped framework combined with a prosthesis in rhinoplasty, requiring only unilateral or bilateral auricular cartilage, effectively improved low nose and short nose deformities in the majority of Chinese Han females. This validates the favorable outcome of this framework in comprehensive rhinoplasty for this population.

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.