[Objective] To analyze the characteristics of HLA-A, HLA-B, HLA-DRB1, HLA-C, HLA-DQB1 and HLA-DPB1 allele polymorphisms among cord blood donors in Guangdong population. [Methods] According to HLA high resolution genotyping data of 32 717 samples of cord blood donors from Guangdong Cord Blood Bank from January 2009 to December 2023, the allele frequencies were calculated by direct counting and the haplotype frequencies were calculated by using Arlequin software 3.5.2.2. [Results] A total of 102 HLA-A alleles, 160 HLA-B alleles and 96 HLA-DRB1 alleles were detected in 32 717 samples. Among them, 46 HLA-DPB1 alleles were detected in 5 377 samples, and 66 HLA-C alleles and 35 HLA-DQB1 alleles were detected in 13 310 samples. The most common alleles were HLA-A^*11∶01 (28.96%), HLA-B^*40∶01 (15.23%), HLA-DRB1^*09∶01 (15.72%), HLA-C^*01∶02 (19.40%), HLA-DQB1^*03∶01 (20.85%) and HLA-DPB1^*05∶01 (40.79%). The most common 3 loci haplotype and 6 loci haplotype were HLA-A^*02∶07-B^*46∶01-DRB1^*09∶01 (1.55%), HLA-C^*07∶02-DQB1^*03∶01-DPB1^*05∶01 (1.77%), HLA-DRB1^*09∶01-DQB1^*03∶03-DPB1^*05∶01 (3.31%) and HLA-A^*02∶07-B^*46∶01-C^*01∶02-DRB1^*09∶01-DQB1^*03∶03-DPB1^*05∶01 (0.30%). [Conclusion] In this study, the allele and haplotype frequencies of HLA-A, HLA-B, HLA-DRB1, HLA-C, HLA-DQB1 and HLA-DPB1 were obtained in the cord blood donors in Guangdong, which can provide important reference data for HLA gene related research and the selection of donors for clinical application.

Objective To investigate the correlation between serum vitamin D level and central precocious puberty(CPP)in girls.Methods A total of 103 girls(case group)with central precocious puberty from Ningbo Woman and Children's Hospital and 53 healthy girls(control group)from health check-ups in Ningbo Women and Children's Hospital were collected as subjects.The serum levels of 25-hydroxyvitamin D3[25(OH)D3]in the two groups were detected by chemiluminescence method.The weight and height of girls in the case group were measured.The serum levels of follicle-stimulating hormone(FSH)and its peak value,luteinizing hormone(LH)and its peak value,estradiol(E2),prolactin(PRL),human chorionic gonadotropin(HCG)and thyroid function were measured by radioimmunoassay.The peak value of LH/FSH was calculated.B ultrasound examination of uterine adnexa was completed to calculate uterine volume and bilateral ovarian volume.According to the results of serum 25-(OH)D3,girls in the case group were divided into normal vitamin D group and vitamin D deficiency group,and the differences of hormone levels,uterine and ovarian development between the two groups were compared.Results The serum level of 25-(OH)D3 in case group was lower than that in control group,and the vitamin D deficiency rate in case group was higher than that in control group,with statistical significance(P<0.05).The age of breast nodules in vitamin D deficiency group was lower than that in vitamin D normal group(P<0.05).There were no significant differences in body weight,height,body mass index(BMI),uterine volume and left ovarian volume between vitamin D normal group and vitamin D deficiency group(P>0.05),and the right ovarian volume in vitamin D deficiency group was significantly higher than that in vitamin D normal group(P<0.05).There were no significant differences in serum levels of FSH,LH,PRL,HCG,peak value of FSH and thyroid function between normal and deficient groups(P>0.05).The levels of E2,LH and LH/FSH in vitamin D deficiency group were significantly higher than those in vitamin D normal group(P<0.05);25-(OH)D3 was negatively correlated with LH/FSH peak(r=-0.197,P<0.05),but was not significantly correlated with thyroid function,FSH,LH,PRL,E2,HCG,FSH and LH peak(P>0.05).Conclusion Vitamin D deficiency is associated with central precocious puberty in girls.Vitamin D deficiency may lead to early onset of precocious puberty.Vitamin D deficiency may affect the hypothalamic-pituitary-gonadal axis function,resulting in changes in reproductive hormone indexes and consequent increase in ovarian volume in girls.

ObjectiveTo carry out an epidemiological analysis on an outbreak of Mycoplasma pneumoniae infection at a welfare institution to provide a theoretical basis for the corresponding prevention and control measures. MethodsUsing the method of field epidemiological investigation， special field treatment was carried out in September 2022. Serum samples from cases and close contacts in the same ward area were collected for detection of nine respiratory tract infection pathogens （Mycoplasma pneumoniae， chlamydia， influenza， human metapneumosis， respiratory syncytial， human boca， parainfluenza type 1‒4 virus， and Middle East respiratory syndrome， severe acute respiratory syndrome coronavirus） by immunofluorescence immunoglobulin M （IgM） antibody test. ResultsA total of 14 Mycoplasma pneumoniae cases were identified， all of whom were residents of the welfare institution. The first case occurred on September 4， while the last case was reported on September 13. The incidence rate of the fifth ward area where the first case reported was 12.82% （10/78）， and it was 3.57% （3/84） in the third ward area and 1.20% （1/83） in the first ward area. There was a significant difference in incidence rates between ward areas （χ²=8.90， P<0.05）， but no significant difference was observed in age distribution and length of hospitalization. Thirty-three samples were collected for detection of nine kinds of IgM antibodies against respiratory pathogens. The results showed that the Mycoplasma pneumoniae IgM antibody was weakly positive in the 14 cases. ConclusionBased on the epidemiological history， clinical symptoms and laboratory tests， it was concluded that it was an outbreak of Mycoplasma pneumoniae infection within the welfare institution. Welfare institutions should continue to control the occurrence and outbreak of infection through effective routine hygiene， ventilation， and disinfection so as to ensure the health and safety of their clients.

Objective To evaluate the correlation between 3D morphological parameters of aneurysms based on the computer-assisted semi-automated measurement and the risk of aneurysm rupture.Methods From October 2019 to October 2022,patients with ruptured multiple aneurysms admitted to the Department of Neurosurgery of Xuanwu Hospital,Capital Medical University were retrospectively included.Aneurysmal morphological parameters(including aneurysmal diameter,maximum diameter,width,neck width,volume,flow angle,parental artery diameter,surface area,wave index and non-spherical index)were measured by computer-assisted semi-automated measurement methods.The length-to-width ratio,wide-to-neck ratio,aspect ratio and size ratio were calculated,and the aneurysm location information was recorded.The ruptured aneurysms in multiple aneurysms were included in the ruptured group,and the remaining aneurysms were included in the unruptured group.Uni variable analysis and binary Logistic analysis were used to evaluate the differences in morphological parameters and location information between the ruptured and unruptured groups.Results All 56 patients with multiple ruptured aneurysms and a total of 126aneurysms were included in the group for analysis.Concerning morphology,including diameter＞5 mm(51.8％[29/56]vs.15.7％[11/70],P＜0.01),maximum diameter＞6mm(57.1％[32/56]vs.25.7％[18/70],P＜0.01),flow angle＞107°(57.1％[32/56]vs.35.7％[25/70],P=0.016),wide-to-neck ratio＞1.1(50.0％[28/56]vs.30.0％[21/70],P=0.022),aspect ratio＞1.1(46.4％[26/56]vs.25.7％[18/70],P=0.015)and size ratio＞1.9(57.1％[32/56]vs.10.0％[7/70],P＜0.01),there was significant difference between the ruptured and unruptured group;Concerning locations,aneurysms are mainly located in the posterior communicating segment of the internal carotid artery(39.3％[22/56])and the middle cerebral artery(23.2％[13/56])in ruptured group,while in the middle cerebral artery(28.6％[20/70])and the non-posterior communicating segment of internal carotid artery(27.1％[19/70])in unruptured group,and there was significant difference in distribution of aneurysm locations(P=0.003).Multivariate Logistic regression analysis showed that size ratio＞1.9 was an independent risk factor for aneurysm rupture(OR,11.62,95％CI 2.40-56.15;P=0.002).Concerning locations,posterior communicating artery aneurysms had a significantly higher risk of rupture compared with the non-posterior communicating segment of internal carotid artery(OR,19.25,95％CI 2.19-169.51;P=0.008).Conclusion For multiple intracranial aneurysms,the size ratio of the three-dimensional morphological parameters of aneurysms＞1.9 is an independent risk factor for aneurysm rupture,and the rupture risk of posterior communicating artery aneurysms is significantly higher than that of non-posterior communicating segment of internal carotid artery.

Objective To create a semi-automatic technology based on convolutional neural networks for saccular aneurysm segmentation.Methods The single-center data of Xuanwu Hospital of Capital Medical University in the database of"China Intracranial Aneurysm Program"from July 2017 to July 2020 were retrospectively included,and all data were anonymized before analysis.Baseline data were collected from all patients,including sex,age(≥60 years and＜60 years),DSA model,number of DSA sequences,and aneurysm information,including the number of aneurysms,diameter(≥5 mm and＜5 mm),neck width(wide neck,narrow neck),and location(bifurcation,sidewall).According to the ratio of 8∶1∶1,the data were randomly divided into training set,test set and validation set by random number table method.The DSA 3D tomography data of all patients were completed in the contrast machine using the 3D rotary DSA mode,and the aneurysms shown in the DSA 3D tomography data were annotated by 3 experienced neurosurgeons,and the standard label of the aneurysm was finally generated.The proposed aneurysm segmentation method consisted of a training stage and a segmentation stage.In the training stage,the model was trained end-to-end by using the DSA 3D tomography image data of the training set,the segmentation label of the aneurysm and the vascular edge information extracted by the Marching Cubes algorithm,and the segmentation index of the model was monitored on the test set to retain the model with the highest segmentation index.In the segmentation stage,the physician selects a point inside the aneurysm on the DSA 3D tomography image of the aneurysm in the validation set,intercepts the volume of interest(VOI),inputs the trained optimal model of vascular and aneurysm segmentation,obtains the segmentation result of the aneurysm,and locates the segmented VOI back to the original DSA 3D tomography image to obtain the final aneurysm outline.The segmentation results of the segmentation network model were compared with standard labels to calculate the Dice similarity coefficient(DSC).The validation set data was stratified by aneurysm diameter,neck width,and location to compare the segmentation results in different datasets.We calculated the bounding boxes for the length,width,and height of the aneurysm segmentation mask,and used the maximum of these as the longest diameter of the aneurysm compared to the maximum diameter in the standard label.In the validation set,the standard label manual acquisition time was counted and compared with the segmentation network model acquisition time(from the time of locating the aneurysm to obtaining a satisfactory aneurysm neck segmentation).Results Finally,969 DSA sequences from 756 patients were included to show 3D tomographic data for 1 094 aneurysms.Among them,604 patients with 877 aneurysms with a total of 783 DSA sequences were included in the training set,117 aneurysms with a total of 100 DSA sequences in 77 patients were included in the test set,and 100 aneurysms with a total of 86 DSA sequences were included in 75 patients in the validation set.(1)The baseline comparison results of each dataset showed that there were statistically significant differences between the datasets of aneurysm diameter(P=0.003)and aneurysm location(P=0.003).There was no significant difference between the remaining baseline data sets(all P＞0.05).(2)The mean DSC of centralized aneurysm segmentation was 0.868±0.078.The mean DSC of aneurysm segmentation≥5 mm diameter was higher than that of aneurysms with＜5 mm diameter(0.891±0.041 vs.0.855±0.088,P=0.038).The DSC values of narrow-necked,wide-necked,bifurcated and lateral wall aneurysms were 0.882±0.065,0.859±0.085,0.876±0.072 and 0.863±0.080,respectively,and there was no significant difference between the groups(all P＞0.05).(3)The maximum diameter of the mask obtained by the aneurysm segmentation model in the validation set was in good agreement with the maximum diameter of the standard label obtained by manual segmentation([5.78±3.18]mm vs.[5.37±2.92]mm,r=0.97).In the validation set,the average time of manual segmentation and neural network segmentation of aneurysms was 2.5 min and 34 s,respectively.Conclusion In this study,a semi-automatic saccular aneurysm segmentation technique based on convolutional neural network can accurately segment aneurysms and is helpful to improve aneurysm morphology analysis.

Objective:To compare the efficacy and safety of low-dose and standard-dose radiotherapy (LD-RT vs. SD-RT) in the treatment of oropharyngeal cancer patients with positive human papillomavirus (HPV). Methods:All comparative studies of low-dose versus standard-dose radiotherapy in the treatment of HPV-positive oropharyngeal cancer were searched from PubMed, Web of Science, Cochrane Library, EMbase, Chinese Biomedical Literature Database (CBM), CNKI, Chongqing VIP, and Wanfang databases from January 1, 2000 to February 9, 2023. According to the inclusion and exclusion criteria, the data were strictly screened, and the RevMan 5.4 software was used for meta-analysis.Results:A total of 8 studies were included. The pooled results showed that the overall survival (OS) and progression-free survival (PFS) of patients in the LD-RT group were similar to those in the SD-RT group ( HR=0.83, 95% CI=0.59-1.18, P=0.31; HR=0.97, 95% CI=0.53-1.78, P=0.92), but the rate of percutaneous endoscopic gastrostomy (PEG) insertion was significantly reduced ( RR=0.45, 95% CI=0.28-0.72, P=0.001). Conclusion:LD-RT yields similar efficacy and lower rate of PEG insertion compared with SD-RT in HPV-positive oropharyngeal neoplasm patients.

Objective:To analyze the clinical phenotype and genetic characteristics of probands in 3 pedigrees of complex hereditary spastic paraplegia type 5 (HSP5) who developed symptoms during childhood, and the genetic diagnostic methods of HSP5 to improve the diagnosis and differential diagnosis of this disease.Methods:The clinical data of 3 HSP5 families admitted to Henan Provincial People′s Hospital from June 2020 to January 2023 were collected. Whole exome sequencing (WES) was performed on the patients to analyze phenotype-related single nucleotide variation (SNV) and small fragment insertion/deletion (INDEL) variation. At the same time, the sequencing data were used to analyze the dynamic mutation regions of specific genes.Results:The probands in the 3 families had complex HSP: the proband in family 1 showed weakness of both lower limbs, urgency of urination and ataxia; the proband in family 2 showed slightly lower intelligence, weakness of both lower limbs, dysarthria, and brain magnetic resonance imaging showed white matter lesions; the proband in family 3 showed muscle weakness, spasm, frequent urination and ataxia of both lower limbs. The sequencing results showed that the CYP7B1 gene c.1171G>T (paternal) and c.1249C>T (maternal) compound heterozygous mutations were found in proband 1 and his younger brother. The CYP7B1 gene c.334C>T (paternal) and c.259+2T>C (maternal) compound heterozygous mutations were found in proband 2 and her younger sister. The CYP7B1 gene c.334C>T (paternal) and c.1082G>A (maternal) compound heterozygous mutations were found in proband 3. And c.1171G>T was a new variant that had not been reported before. Dynamic mutation analysis showed that the numbers of CAG repeats of ATXN1/2/3/6/7/8/12, DRPLA, TBP genes were within the normal range. According to the clinical manifestations and genetic examination results of the children in the 3 pedigrees, the diagnosis of HSP5 was clear. Conclusions:The 3 families in the study all had complex HSP5 caused by compound heterozygous mutations of the CYP7B1 gene. WES can analyze SNV, INDEL and dynamic mutations simultaneously to make the maximum clear diagnosis and can be used as an effective detection method for HSP5.

Sedentary bad habits and unhealthy diets in modern lifestyles have led to an upward trend in the incidence of obesity, and a series of diseases related to obesity have also gradually received attention. Multiple sclerosis is a chronic inflammatory disease of the central nervous system, and obesity has a common inflammatory component with most chronic diseases. Therefore, this paper reviews the research progress on the relationship between obesity and multiple sclerosis in order to better understand the role of obesity in the management of multiple sclerosis.

Frontotemporal dementia (FTD) is a group of dementia diseases mainly characterized by progressive mental-behavioral abnormalities, executive dysfunction, and language impairment. A small number of FTD patients also present with movement disorders at certain disease course. Here the clinical and multimodal positron-emission tomography (PET) imaging manifestations in a patient with frontotemporal lobe dementia and parkinsonian syndrome are reported. 18F-fluorodopa PET showed reduced uptake in the head of the caudate nucleus. 18F-AV-45 PET showed negative amyloid deposition. 18F-AV-1451 PET showed tau deposition in the neocortex. The clinical and neuroimaging features support the underlying frontotemporal lobar degeneration-tau pathology.

Objective:To analyze the gene mutation type and clinical phenotype of patients with PRRT2 mutation, and explore their relations with prognosis. Methods:A total of 18 patients with PRRT2 gene mutation (1 patient with novel mutation in PRRT2 gene, and 17 probands in 17 families with PRRT2 gene mutation) were enrolled in Department of Neurology, First Affiliated Hospital of Air Force Medical University from January 2018 to July 2023. Serum of the patients was collected for whole exon sequencing, and mutation sites and types of PRRT2 gene were analyzed. SWISS-MODEL website was used to predict the changes in protein structure caused by PRRT2 gene mutation. The relations of gene mutation type and clinical phenotype with prognosis of these patients were analyzed. Results:(1) All 18 patients with PRRT2 gene mutation were heterozygous mutation, including 12 frameshift mutations, 5 missense mutations, and 1 integer mutation. The clinical phenotype included benign familial infantile epilepsy (BFIE) in 5 patients, epilepsy in 6 patients, exercise-induced paroxysmal kinesigenic dyskinesia (PKD) in 5 patients, and infantile convulsion and choreoathetosis (ICCA) in 2 patients. A total of 8 mutation sites were found in 18 patients with PRRT2 gene mutation, of which 3 mutation sites have been reported, and 5 mutation sites have not been reported, including c.647(exon2)C>A, c.647(exon2)C>G, c.170(exon2)delC, c.981(exon3)C>G, and lossl(EXON: 2)(all). (2) Eighteen patients mainly accepted oxcarbazepine, levetiracetam, and sodium valproate in combination or monotherapy. Among them, 5 BFIE patients, 2 ICCA patients and 3 epilepsy patients were seizure-free after treatment. PKD patients did not respond well to oxcarbazepine. (3) Three frameshift mutations (mutation sites: c.649 [exon2]_c.650 [exon2] insC, c.640 [exon2]_c.641 [exon2] insC, and c.170 [exon2] delC) led to premature termination of protein translation, resulting in significant changes in protein structure. Four missense mutations (mutation sites: c.640[exo2]G>C, c.647[exon2]C>A, c.647[exon2]C>G, and c.981[exon3]C>G) had little effect on protein structure changes. No relation was found between changes of protein structure caused by different mutation types and prognosis. Conclusion:PRRT2 gene mutation patients with clinical phenotypes of BFIE and ICCA have good prognosis, but the mutation type is not related with the prognosis of patients.