A retrospective analysis was made on the clinical data and gene mutation characteristics of 2 children admitted to the Children′s Hospital of Zhejiang University School of Medicine for epilepsy without periventricular nodules caused by the ARF1 gene mutation from August 2023 to February 2024, and relevant literature was reviewed.Both patients presented with seizures and psychomotor retardation, and 1 of them was diagnosed with West syndrome.Whole exome sequencing confirmed that the 2 patients carried a missense mutation in the ARF1 gene (c.55C>A, p.R19S).Brain magnetic resonance imaging (MRI) of 2 patients revealed no obvious abnormalities.A summary analysis of 5 cases of ARF1 gene mutations reported in three foreign literatures showed that patients with ARF1 gene mutations usually presented with seizures, developmental delay, hypotonia, mental retardation, and motor stereotypies.MRI showed periventricular nodular heterotopia, corpus callosum dysplasia, subcortical white matter abnormalities, and delayed myelination.This study found for the first time that ARF1-related disorders can occur without significant brain structural malformations, indicating that there are inconsistencies in neuroimaging findings, adding valuable phenotypic information to this gene.The differences in imaging findings may be the result of genetic background or variation in ARF1-interacting proteins, or may be caused by altered regulatory mechanisms of protein activity.

Objective:To explore the characteristics of renal oxidative stress injuries in rats with high-voltage electric burns and the intervention effects of breviscapine.Methods:This study was an experimental study. One hundred and sixty 8-10-week-old male Sprague Dawley rats were divided into sham injury group, electric burn group, saline group, low breviscapine group, middle breviscapine group, and high breviscapine group, with 60 rats in each of the sham injury group and electric burn group, 10 rats in each of the other 4 groups, respectively. The rats in sham injury group and electric burn group were divided into 10 rats at each time point, including post injury hour (PIH) 0 (immediately), 8, 24, 48, and 72, and post injury week (PIW) 1. The rats in sham injury group were not conducted with electrical current to cause sham injury. The rats in the other 5 groups were caused high-voltage electric burns. The rats in sham injury group and electric burn group were not treated after injury. The rats in saline group, low breviscapine group, middle breviscapine group, and high breviscapine group were intraperitoneally injected with 5 mL/kg normal saline or 0.4, 1.6, and 4.0 g/L breviscapine, repeated every 24 h until PIH 72. After the model was successfully made, 14 rats died, including 1, 2, 2, and 1 rat (s) at PIH 24, 48, and 72 and PIW 1 in electric burn group, 4, 1, 2, and 1 rat (s) at PIH 72 in saline group, low breviscapine group, middle breviscapine group, and high breviscapine group, respectively. The kidney tissue collected from rats in the 6 groups was weighed and the kidney/body weight ratio was calculated. The left upper pole tissue of kidney was collected from each 4 rats in sham injury group, and in electric burn group at PIH 8, 24, 48, and 72 and PIW 1, and in saline group, low breviscapine group, middle breviscapine group, and high breviscapine group at PIH 72. The renal tubular and renal interstitial injury was evaluated by a semi-quantitative histological scoring system after hematoxylin-eosin staining. The inferior vena cava blood samples were collected from rats in the 6 groups to measure the serum creatinine levels via sarcosine oxidase method, and serum urea nitrogen levels via urease method. The right renal cortices were collected from rats in the 6 groups to measure the catalase (CAT) activity in the supernatant of renal tissue via molybdic acid method, and the levels of advanced oxidation protein product (AOPP) and Klotho protein in the supernatant of renal tissue via enzyme-linked immunosorbent assay.Results:At PIH 8, 48, and 72 and PIW 1, the kidney/body weight ratios of rats in electric burn group were significantly higher than those in sham injury group (with t values of -0.52, -3.75, -4.05, and -2.25, respectively, P<0.05). At PIH 72, compared with those in electric burn group, saline group, low breviscapine group, and middle breviscapine group, the kidney/body weight ratio of rats in high breviscapine group was significantly decreased (with P values all <0.05). Compared with those in sham injury group, the renal tubular and renal interstitial injury scores of rats in electric burn group at PIH 48 and 72 and PIW 1 were significantly increased ( P<0.05). Compared with those in electric burn group at PIH 8 and 24, the renal tubular and renal interstitial injury score of rats in electric burn group at PIW 1 was significantly increased (with P values all <0.05). At PIH 72, the renal tubular and renal interstitial injury scores of rats in the 5 groups of rats with electric burns were similar ( P>0.05). At PIH 8, 24, 48, and 72 and PIW 1, the levels of serum creatinine and serum urea nitrogen of rats in electric burn group were significantly higher than those in sham injury group (with Z values of -2.00, -2.37, -2.62, -2.67, -3.67, -2.34, -3.11, -3.43, -3.11, and -3.51, respectively, P<0.05). Compared with that in electric burn group at PIH 0, the levels of serum creatinine of rats in electric burn group at PIH 72 and PIW 1 were significantly increased ( P<0.05). Compared with that in electric burn group at PIH 8, the levels of serum creatinine of rats in electric burn group at PIH 72 and PIW 1 were significantly increased ( P<0.05). Compared with that in electric burn group at PIH 24, the level of serum creatinine of rats in electric burn group at PIW 1 was significantly increased ( P<0.05). At PIH 72, the levels of serum creatinine of rats in the 5 groups of rats with electric burns were similar ( P>0.05). Compared with that in electric burn group, the levels of serum urea nitrogen of rats in low breviscapine group, middle breviscapine group, and high breviscapine group were significantly decreased ( P<0.05). Compared with that in saline group, the levels of serum urea nitrogen in middle breviscapine group and high breviscapine group were significantly decreased ( P<0.05). At PIH 48 and 72 and PIW 1, the CAT activities in the supernatant of renal tissue of rats in electric burn group were significantly lower than those in sham injury group (with Z values of -2.22, -2.13, and -3.51, respectively, P<0.05). At PIH 8, 24, 48, and 72 and PIW 1, the levels of AOPP in the supernatant of renal tissue of rats in electric burn group were significantly higher than those in sham injury group (with Z values of -2.00, -3.15, -2.71, -2.04, and -2.33, respectively, P<0.05). At PIH 0-PIW 1, the levels of Klotho protein in the supernatant of renal tissue of rats in sham injury group and electric burn group were all similar ( P>0.05). Compared with that in electric burn group at PIH 0, the CAT activities in the supernatant of renal tissue of rats in electric burn group at PIH 72 and PIW 1 and the levels of Klotho protein in the supernatant of renal tissue of rats in electric burn group at PIH 48 and 72 and PIW 1 were significantly decreased ( P<0.05). Compared with that in electric burn group at PIH 8, the CAT activities in the supernatant of renal tissue of rats in electric burn group at PIH 72 and PIW 1 and the levels of Klotho protein in the supernatant of renal tissue of rats in electric burn group at PIH 48 and 72 and PIW 1 were significantly decreased ( P<0.05). Compared with that in electric burn group at PIH 24, the CAT activities in the supernatant of renal tissue of rats in electric burn group at PIH 72 and PIW 1 were significantly decreased ( P<0.05). Compared with that in electric burn group at PIH 48, the CAT activity in the supernatant of renal tissue of rats in electric burn group at PIW 1 was significantly decreased ( P<0.05). At PIH 72, the levels of Klotho protein in the supernatant of renal tissue of rats in the 5 groups of rats with electric burns were similar ( P<0.05). Compared with 14.6 (12.6, 23.6) U/mgprot in electric burn group, the CAT activities in the supernatant of renal tissue of rats in low breviscapine group (20.5 (18.0, 39.8) U/mgprot), middle breviscapine group (24.9 (14.7, 28.9) U/mgprot), and high breviscapine group (28.0 (21.9, 39.1) U/mgprot) were significantly increased ( P<0.05). Compared with 15.7 (13.7, 25.6) U/mgprot in saline group, the CAT activities in the supernatant of renal tissue of rats in middle breviscapine group and high breviscapine group were significantly increased ( P<0.05). Compared with that in low breviscapine group, the CAT activity in the supernatant of renal tissue of rats in high breviscapine group was significantly increased ( P<0.05). Compared with those in electric burn group and saline group, the levels of AOPP in the supernatant of renal tissue of rats in middle breviscapine group and high breviscapine group were significantly decreased ( P<0.05). Conclusions:After high-voltage electric burns, oxidative stress injury occur in the kidneys of rats, which is aggravated with time extension. Breviscapine can alleviate oxidative stress injuries in the kidneys of rats with high-voltage electric burns.

The clinical data of a case with late-onset isolated sulfite oxidase deficiency(ISOD)admitted in the Department of Neurology, Children′s Hospital, Zhejiang University School of Medicine in July 2021 were retrospectively analyzed.Fifteen previously published cases of late-onset ISOD were also reviewed.The patient was a girl, who was hospitalized because of " motor regression with mental retardation for 5 days" at 1 year old.The manifestations of the patient were extrapyramidal symptoms, regression of motor development and seizures.The level of urinary sulfites in the patient was increased.Magnetic resonance imaging (MRI) features were bilateral pallidus and substantia nigra.Gene sequencing suggested a pure missense mutation of the sulfite oxidase( SUOX) gene c. 650(exon5)G>A(p.Arg217Gln). In 16 cases of late-onset ISOD, the median age at onset and diagnosis was 10.5 months and 34.0 months, respectively.The common clinical manifestations were hypotonia (13 cases), seizures (10 cases), movement disorders (9 cases), and ectopia lentis (6 cases). The most common brain MRI feature was pallidus changes (11 cases), followed by lesions of substantia nigra (5 cases), and cerebral atrophy (4 cases). Fourteen cases of late-onset ISOD showed a positive urinary sulfite test.The missense mutation of the SUOX gene was found in 9 cases.It suggested that brain MRI involvement of bilateral pallidus, high excretion of urine sulfites and the missense mutation of the SUOX gene were important diagnostic clues for late-onset ISOD.

Due to the virtues of no stutter peaks, low rates of mutation, and short amplicon sizes, insertion/deletion (InDel) polymorphism is an indispensable tool for analyzing degraded DNA samples from crime scenes for human identifications (Wang et al., 2021). Herein, a self-developed panel of 43 InDel loci constructed previously by our group was utilized to evaluate the genetic diversities and explore the genetic background of the Han Chinese from Beijing (HCB) including 301 random healthy individuals. The lengths of amplicons at 43 InDel loci in this panel ranged from 87 to 199 bp, which indicated that the panel could be used as an effective tool to utilize highly degraded DNA samples for human identity testing. The loci in this panel were validated and performed well for forensic degraded DNA samples (Jin et al., 2021). The combined discrimination power (PD) and combined probability of exclusion (PE) values in this panel indicated that the 43 InDel loci could be used as the candidate markers in personal identification and parentage testing of HCB. In addition, population genetic relationships between the HCB and 26 reference populations from five continents based on 19 overlapped InDel loci were displayed by constructing a phylogenetic tree, principal component analysis (PCA), and population genetic structure analysis. The results illustrated that the HCB had closer genetic relationships with the Han populations from Chinese different regions.
Beijing ; China ; Forensic Genetics/methods* ; Gene Frequency ; Genetics, Population ; Humans ; INDEL Mutation ; Phylogeny

School-age children are in a specific development stage corresponding to juvenility, when the white matter of the brain experiences ongoing maturation. Diffusion-weighted magnetic resonance imaging (DWI), especially diffusion tensor imaging (DTI), is extensively used to characterize the maturation by assessing white matter properties in vivo. In the analysis of DWI data, spatial normalization is crucial for conducting inter-subject analyses or linking the individual space with the reference space. Using tensor-based registration with an appropriate diffusion tensor template presents high accuracy regarding spatial normalization. However, there is a lack of a standardized diffusion tensor template dedicated to school-age children with ongoing brain development. Here, we established the school-age children diffusion tensor (SACT) template by optimizing tensor reorientation on high-quality DTI data from a large sample of cognitively normal participants aged 6-12 years. With an age-balanced design, the SACT template represented the entire age range well by showing high similarity to the age-specific templates. Compared with the tensor template of adults, the SACT template revealed significantly higher spatial normalization accuracy and inter-subject coherence upon evaluation of subjects in two different datasets of school-age children. A practical application regarding the age associations with the normalized DTI-derived data was conducted to further compare the SACT template and the adult template. Although similar spatial patterns were found, the SACT template showed significant effects on the distributions of the statistical results, which may be related to the performance of spatial normalization. Looking forward, the SACT template could contribute to future studies of white matter development in both healthy and clinical populations. The SACT template is publicly available now ( https://figshare.com/articles/dataset/SACT_template/14071283 ).

Objective:To evaluate the efficacy of botulinum toxin A injection therapy with ultrasound-guided for benign masseter hypertrophy.Methods:Twenty cases (40 sides) of masseter hypertrophy were injected with botulinum toxin A, among which 10 cases were taken as experimental group and the other 10 cases as control group. The experimental group had preoperative ultrasound examination to measure the thickness of masseter, and use ultrasound-guided precise injection during the operation, and then ultrasound recheck to measure the postoperative masseter thickness; The other 10 cases of control group adopt traditional 3-point injection method.Results:The masseter thickness of the two groups at different period of times after treatment was decreased ( P<0.001), the most obviously decrease happened 4-12 weeks after injection. The mean reduction was 26.8% at 4 weeks and 28.4% at 12 weeks after injection. Masseter muscle thickness recovered by 22% at 24 weeks and by 20% at 36 weeks. The average follow-up was 6.0±2.4 months with no serious complications occurred. In the control group, there was a partial masseter bulge in one case. The satisfactory rate of the patients in the experimental group was higher than that of the control group. Conclusions:Botulinum toxin A injection therapy with ultrasound-guided for benign masseter hypertrophy is an effective treatment, which is more accurate and effective than the traditional injection method.

The cumulative exposure of sunlight can accelerate skin aging and canceration. It changes the biological and clinical reactions of the skin, including acute damage(sunburn)and chronic damage(photoaging, photocarcinogenesis, or pigmentation, etc.). This article summarizes the research progress in the effects of ultraviolet rays on skin photoaging and photocarcinogenesis in recent years. The mechanism of photoaging and photocarcinogenesis is the generation of ROS and DNA damage through ultraviolet irradiation, resulting cell damage, inflammation, immunosuppression, extracellular matrix remodeling and changes of angiogenesis. It provides help for the clinical prevention and treatment of photoaging and photocarcinogenesis.

Objective:To investigate the application effects of free transplantation of autologous omentum in treating maxillofacial infection complicated with complex sinus tract.Methods:The retrospective observational study method was used. Four patients with maxillofacial infection complicated with complex sinus tract were admitted to Department of Burns and Plastic Surgery of the Second Affiliated Hospital of Air Force Medical University from July 2017 to the December 2019, including 3 males and 1 female aged 36-60 years. Preoperative facial computed tomography (CT) was performed on patients for calculating the volume of sinus tract. During the operation, the sinus tract was thoroughly debrided, and the volume of the tissue defect was about 5 cm×3 cm×2 cm-10 cm×5 cm×3 cm after debridement. The tissue defect area was filled with omentum of 100-300 mL which was cut under laparoscopy. The artery and vein on the right side of the omentum were reserved as the vascular pedicle of the donor area, which were anastomosed with the facial artery and external jugular vein of the recipient area. The survival of omentum, and the occurrences of reinfection and complication were observed after operation, respectively. On the 10th day and in 1 month after the operation, the blood supply of omentum was examined by colored Doppler ultrasound and CT angiography, and the filling of tissue defect area was examined by head and face CT. During follow-up after the operation, the recoveries of face appearance and function and scar hyperplasia in the donor area.Results:The transplanted omentums in 4 patients survived after the operation with no reinfection and complication. On the 10th day and in 1 month after the operation, the transplanted omentums had good blood supply, and the filled area with omentum was in good shape, without formation of dead cavity. During follow-up of 6-10 months after surgery, the appearance and function of face recovered well, and there was no obvious scar hyperplasia in the donor area.Conclusions:After free transplantation of omentum in treating maxillofacial infection with complex sinus tract, the patients have good facial appearance and function, and the application of laparoscopy results in little damage to the patients and quick postoperative recovery.

The cumulative exposure of sunlight can accelerate skin aging and canceration. It changes the biological and clinical reactions of the skin, including acute damage(sunburn)and chronic damage(photoaging, photocarcinogenesis, or pigmentation, etc.). This article summarizes the research progress in the effects of ultraviolet rays on skin photoaging and photocarcinogenesis in recent years. The mechanism of photoaging and photocarcinogenesis is the generation of ROS and DNA damage through ultraviolet irradiation, resulting cell damage, inflammation, immunosuppression, extracellular matrix remodeling and changes of angiogenesis. It provides help for the clinical prevention and treatment of photoaging and photocarcinogenesis.

Objective:To assess the clinical outcome of the novel computer assisted reduction malarplasty using angled double L-shaped osteotomies.Methods:Retrospective analysis of the 35 female patients who received reduction malarplasty surgery during June 2014 to April 2019 was conducted. Patients were divided into the conventional surgery group (9 cases) and the computer assisted surgery group (26 cases) based on their personal will. For the conventional surgery group, the zygomatic arch was repositioned inwardly after L-shaped osteotomy, and was rigidly fixed with miniplates and screws. The computer assisted reduction malarplasty was as follows: computer assisted angled double L-shaped osteotomies with surgical guide was performed intraorally, and the pre-bent titanium was used to setback the resected zygoma bone, which was then fixed with titanium miniplates and screws. Operation time, patients’ satisfaction (3-month follow-up) and postoperative complications (asymmetry and bone nonunion) were recorded and assessed. CT scans were performed to compare the preoperative design and 3-month postoperative follow-up for the computer assisted patient group. For statistical analysis, independent sample t test was used to analyze operation time of the 2 groups and chi-square test was used to analyze the data of patients’ satisfaction and asymmetry occurrence. P<0.05 was considered as statistically significant. Results:The mean operation time was (85.1 ± 17.8) min during computer assisted surgery versus (62.2±11.7) min during conventional surgery. The difference between the two groups was statistically significant ( t=3.53, P=0.020). Neither group showed noticeable resected bone shifting or soft tissue drooping. One patient in the conventional surgery group had bone nonunion on the right zygoma and partial absorption of the left zygomatic bone. The incidence of asymmetry in the computer-assisted group was 3.8% (1/26, surgical correction was not required), and 33.3% in the conventional surgery group (3/9, one patient required surgical correction). There was a statistically significant difference between the two groups ( χ2=6.179, P=0.046). Patients’ satisfaction in the computer-assisted group was 100% (26/26), and 78% (7/9) in the conventional surgery group ( χ2=7.929, P=0.019). Comparisons between the postoperative CT and preoperative simulation CT images showed that the position deviation of the resected bones was (0.21 ± 0.19) mm. Conclusions:In the present study, improved precision of zygomatic bone resection and bone setback was achieved in reduction malarplasty by using the angled double L-shaped osteotomies with computer assistance. Moreover, complication occurrences (asymmetry, bone nonunion etc.) were significantly decreased. Also, patients’ expectation was better achieved with this method.