Objective: To analyze a case of hemolytic disease of the fetus and newborn (HDFN) caused by anti-Jk3 antibody, which was induced in a rare Jk (a-b-) blood type resulting from a gene mutation in the Kidd blood group system, so as to provide a reference for the diagnosis and treatment of HDFN associated with this antibody. Methods: HDFN-related blood group serological testing, antibody identification and specific blood group antigen identification were performed on blood samples from the infant and the mother. The mother's Kidd blood group was analyzed by molecular biology methods. Clinical data of the infant and the mother were collected, and changes in bilirubin, hemoglobin (Hb), and other results during the disease progression of the infant were analyzed. Results: The infant was blood type B, Rh (D) positive, and Kidd blood group Jk (a-b+). The mother was blood type O, Rh (D) positive. Due to an IVS5-1 G>A mutation, the mother exhibited a Jk (a-b-) phenotype. Anti-Jk3 antibodies were detected in the mother's plasma. The infant was diagnosed with HDFN due to anti-Jk3. During treatment, the total bilirubin (TBil) and indirect bilirubin (IBil) levels of the infant initially increased and then decreased, with peak monitored values of 228.2 μmol/L and 208.9 μmol/L, respectively. Hb decreased from 180 g/L at birth to 93 g/L. After phototherapy and symptomatic treatment, the infant's indicators stabilized, and the general condition improved. The infant was discharged after recovery. Conclusion: Clinically, HDFN caused by anti-Jk3 antibodies is relatively rare. For HDFN induced by this antibody, early detection, intervention, and treatment are essential to address the transfusion challenges posed by the extreme scarcity of Jk3-negative blood sources, thereby minimizing adverse outcomes in affected infants to the greatest extent possible.

Gene regulation relies on the precise binding of transcription factors (TFs) at regulatory elements, but simultaneously detecting hundreds of TFs on chromatin is challenging. We developed cFOOT-seq, a cytosine deaminase-based TF footprinting assay, for high-resolution, quantitative genome-wide assessment of TF binding in both open and closed chromatin regions, even with small cell numbers. By utilizing the dsDNA deaminase SsdAtox, cFOOT-seq converts accessible cytosines to uracil while preserving genomic integrity, making it compatible with techniques like ATAC-seq for sensitive and cost-effective detection of TF occupancy at the single-molecule and single-cell level. Our approach enables the delineation of TF footprints, quantification of occupancy, and examination of chromatin influences on TF binding. Notably, cFOOT-seq, combined with FootTrack analysis, enables de novo prediction of TF binding sites and tracking of TF occupancy dynamics. We demonstrate its application in capturing cell type-specific TFs, analyzing TF dynamics during reprogramming, and revealing TF dependencies on chromatin remodelers. Overall, cFOOT-seq represents a robust approach for investigating the genome-wide dynamics of TF occupancy and elucidating the cis-regulatory architecture underlying gene regulation.
Transcription Factors/genetics* ; Humans ; Chromatin/genetics* ; Animals ; Binding Sites ; Mice ; DNA Footprinting/methods*

Objective:To explore the key factors affecting health-related quality of life in children with brain tumors following initial diagnosis and to analyze its impact on survival and prognosis.Methods:Seventy-eight pediatric brain tumor patients who participated in a prospective cohort study between June 1st，2016 and June 30th，2021 were included for health-related quality of life assessment and long-term follow-up（median follow-up duration：52 months）.Results:The male-to-female ratio among the 78 children was 1.1：1，with a median age of 7.0（4.0，10.0）years. The scores of the Pediatric Quality of Life Inventory? 4.0 Generic Core Scales（PedsQL? 4.0）were（67.40±18.26）for parent proxy reports and（67.87±20.40）for child self-reports. Cronbach's α coefficients ranged from 0.790 to 0.927，with the intraclass correlation coefficient（ICC）was 0.673. According to the PedsQL? 4.0，impaired quality of life was observed in 50.0% of children by parent proxy report and 52.8% by child self-report，primarily affecting physical and role functioning. In addition，70% of caregivers reported impaired quality of life，with worry being the most prominent issue. Key factors affecting children's quality of life included radiotherapy，tumor stage，annual family income，and parents' marital status，while caregivers' quality of life was influenced by radiotherapy and the child's IgA levels（all P<0.05）. Children with decreased total scores，impaired physical functioning，or impaired emotional functioning on the PedsQL? 4.0 parent proxy report exhibited an increased risk of mortality（all P<0.05）. In multivariate Cox regression analysis，independent prognostic factors included a decrease in the total score on the PedsQL? 4.0 parent proxy report（ HR=6.702，95% CI：1.442-31.151， P<0.05），presence of hydrocephalus（ HR=33.602，95% CI：4.354-259.333， P<0.05），tumor recurrence（ HR=16.846，95% CI：3.158-89.852， P<0.05），and absence of hydrocephalus shunt surgery（ HR=13.428，95% CI：1.761-102.394， P<0.05）. Conclusion:The quality of life of newly diagnosed children with brain tumors is lower than that of healthy children，and quality of life is an important prognostic factor. Quality of life assessment should be an integral component of a comprehensive management program for children with brain tumors.

Turning to critical illness is a common stage of various diseases and injuries before death. Patients usually have complex health conditions, while the treatment process involves a wide range of content, along with high requirements for doctor′s professionalism and multi-specialty teamwork, as well as a great demand for time-sensitive treatments. However, this is not matched with critical care professionals and the current state of medical care in China. Telemedicine, which shortens the distance of medical professionals and the gap of disease diagnosis and treatments in various regions through electronic information, can effectively solve the current problem. Therefore, there is an urgent need to develop a standardized, high-quality visualization telemedicine round system .Therefore, experts have been organized to search domestic and foreign literature on telemedicine round for critically ill patients and to form this consensus based on clinical experiences so as to further improve the level of critical care treatments in regions.

OBJECTIVE: To assess the association of single nucleotide polymorphisms of rs700519 and rs4646 loci of cytochrome P450 19A1 (CYP19A1) gene with risk of Breast cancer. METHODS: Two hundred patients with breast cancer treated at Xinxiang Central Hospital between January 2019 and January 2024 and 100 healthy individuals were enrolled as the study group and control group, respectively. The genotypes of the CYP19A1 gene at the rs700519 and rs4646 loci were determined by direct sequencing. The general data, distribution of CYP19A1 genotypes and alleles were compared between the two groups. This study has been approved by the Medical Ethics Committee of Xinxiang Central Hospital (Ethics No. 2021-182). RESULTS: No significant difference was found in age, body mass index, times of conception and proportion of menopause between the two groups (P > 0.05). The frequencies of AA genotype and A allele at the rs700519 locus, and the CC genotype and C allele at the rs4646 locus in the study group were significantly higher than those of the control group (P < 0.05). The frequencies of AA genotype at the rs700519 locus and CC genotype at the rs4646 locus in patients with breast cancer at stages III-IV were significantly higher than those at stage I-II (P < 0.05). CONCLUSION Polymorphisms of CYP19A1 gene at the rs700519 and rs4646 loci are associated with susceptibility of breast cancer. The AA and CC genotypes at the two loci may increase the risk for breast cancer.
Humans ; Female ; Breast Neoplasms/genetics* ; Aromatase/genetics* ; Polymorphism, Single Nucleotide/genetics* ; Middle Aged ; Genetic Predisposition to Disease ; Adult ; Genotype ; Case-Control Studies ; Alleles ; Gene Frequency ; Risk Factors ; Aged

Objective:To assess the association of single nucleotide polymorphisms of rs700519 and rs4646 loci of cytochrome P450 19A1 ( CYP19A1) gene with risk of breast cancer. Methods:Two hundred patients with breast cancer treated at Xinxiang Central Hospital between January 2019 and January 2024 and 100 healthy individuals were enrolled as the study group and control group, respectively. The genotypes of the CYP19A1 gene at the rs700519 and rs4646 loci were determined by direct sequencing. The general data, distribution of CYP19A1 genotypes and alleles were compared between the two groups. This study has been approved by the Medical Ethics Committee of Xinxiang Central Hospital (Ethics No.2021-182). Results:No significant difference was found in age, body mass index, times of conception and proportion of menopause between the two groups ( P>0.05). The frequencies of AA genotype and A allele at the rs700519 locus, and the CC genotype and C allele at the rs4646 locus in the study group were significantly higher than those of the control group ( P<0.05). The frequencies of AA genotype at the rs700519 locus and CC genotype at the rs4646 locus in patients with breast cancer at stages Ⅲ-Ⅳ were significantly higher than those at stage Ⅰ-Ⅱ ( P<0.05). Conclusion:Polymorphisms of CYP19A1 gene at the rs700519 and rs4646 loci are associated with susceptibility of breast cancer. The AA and CC genotypes at the two loci may increase the risk for breast cancer.

AIM:To investigate the effects of electroacupuncture(EA)at"Qihai","Zhongji"and"Guanyuan"acupoints on urinary control function in rats with stress urinary incontinence(SUI)as well as to explore the mechanism of regulating ferroptosis.METHODS:A total of 50 Sprague-Dawley(SD)rats were randomly assigned to 5 groups.The rats in control(Con)group did not receive any treatment.The rats in model group was modeled for bilateral oophorectomy and vaginal dilation.The rats in EA group received EA treatment at"Qihai","Zhongji"and"Guanyuan"acupoints after modeling,while those in sham acupuncture(sham)group received EA treatment beside the specified acupoints after modeling.The rats in EA+solute carrier family 7 member 11(SLC7A11)inhibitor imidazole ketone erastin(IKE)group received an intraperitoneal injection of 50 mg/kg IKE and EA intervention after modeling.After the experiment,the uri-nary control indicators of leak point pressure(LPP),abdominal LPP(ALPP),and maximum bladder capacity(MBC)were measured for all rats.Hematoxylin-eosin(HE),Masson and Prussian blue staining was performed to observe the pathological changes and iron deposition in the urethral sphincter muscle.Enzyme-linked immunosorbent assay(ELISA)was performed to detect the mitochondrial functional indicators(mitochondrial membrane potential and ATP)and redox in-dicators:changes in the levels of reactive oxygen species(ROS),malondialdehyde(MDA),and glutathione(GSH).RT-qPCR,Western blot and immunofluorescence staining were performed to detect the expression of key iron death proteins.RESULTS:When compared with the Con group,the main urinary control indicators of MBC,LPP,and ALPP in the model group were significantly reduced(P<0.05),and the urethral sphincter fibers were broken and disordered,iron de-position was significant,and the proportion of muscle fibers was significantly reduced.The mitochondrial function indica-tors and GSH levels were significantly reduced(P<0.05),while the ROS intensity,Fe2+and MDA levels were significant-ly increased(P<0.05),the glutathione peroxidase 4(GPX4)and SLC7A11 mRNA protein expressions were significantly reduced(P<0.05),and the acyl-CoA synthetase long-chain family member 4(ACSL4)and transferrin receptor 1(TFR1)protein expressions were significantly increased(P<0.05).When compared with the model group,the main urinary con-trol indicators of the rats in the EA group were significantly improved(P<0.05).The urethral sphincter fibers breakage and disordered were attenuated,iron deposition was significantly reduced,and the proportion of muscle fibers was signifi-cantly increased.The mitochondrial function indicators and GSH levels were significantly increased(P<0.05),while the ROS intensity,Fe2+and MDA levels were significantly reduced(P<0.05).The mRNA and protein expressions of GPX4 and SLC7A11 were significantly increased(P<0.05),and the mRNA and protein expressions of ACSL4 and TFR1 were significantly reduced(P<0.05).When compared with the EA group,the above indicators in the EA+IKE group showed negative changes,and the difference was statistically significant(P<0.05).CONCLUSION:Treatment with EA at"Qi-hai","Zhongji"and"Guanyuan"acupoints improves urinary function in SUI,and the underlying mechanism may be relat-ed to ferroptosis mediated by the SLC7A11/GPX4 signaling pathway.

Objective:To investigate the clinical efficacy of anterolateral thigh free fat flap (hereinafter referred to as fat flap) transplantation with vascular anastomosis for reconstructing facial depressed scars.Methods:This study was a retrospective observational study. Twelve patients (5 males and 7 females, aged 15-67 years) with facial depressed scars who met the inclusion criteria were treated at the First Affiliated Hospital of Air Force Medical University from June 2017 to September 2023. Before surgery, the patient and observer scar assessment scale (POSAS) was used to evaluate the facial scar condition of the patients. Scar depression area was measured ranging from 5 cm×4 cm to 14 cm×7 cm, with a depth from 6 to 12 mm. All cases were reconstructed with fat flaps. The harvested fat flaps ranged 6 cm×5 cm to 15 cm×8 cm in size, with vascular pedicle lengths ranging from 4 to 7 cm. Intraoperatively, the number of perforator vessels observed was as follows: 1 perforator in 2 cases, 2 perforators in 7 cases, and 3 perforators in 3 cases. Fat flaps were transplanted to the recipient sites, with the main trunks of its perforator vessels and accompanying veins anastomosed to the recipient arteries and veins. Donor site wounds were closed primarily. Postoperatively, the survival of fat flap, vascular crisis, and the healing of donor site incision were observed. During follow-up, the facial contour was observed, the long-term reintervention at recipient sites was recorded, and the scars formed at both donor and recipient incisions were observed. The function of donor limb was assessed. At the last follow-up, the scar condition at recipient site was evaluated using the two subscales of POSAS (the observer scale and the patient self-rating scale), respectively.Results:One patient developed a mild hematoma due to bleeding within 24 hours after surgery. After timely removal of the hematoma and enhanced drainage, the fat flap survived. The fat flaps of the other patients survived completely with no vascular crisis occurred. The donor site incision of 1 patient developed infection 7 days after surgery and healed after timely dressing changes, while the donor site incisions of the remaining patients all healed smoothly. During the follow-up of 6-26 months, significant improvement in facial symmetry was observed in all patients, with natural fullness achieved. Autologous microlipofilling was performed in 2 patients at 6 months and 10 months postoperatively, respectively. Local liposuction contouring was conducted in 1 patient at 12 months postoperatively. The scars at the donor and recipient sites were mild. No functional impairment at donor sites was recorded, and the motor and sensory functions of the affected limbs were normal. At the last follow-up, the observer scale assessment showed that the scores for vascularity, thickness, roughness, pliability, pigmentation, and overall assessment of the scars in the recipient areas were 2.1±0.5, 1.9±0.7, 3.0±0.7, 2.1±1.2, 3.8±1.1, and 2.8±0.5, respectively, which were significantly lower than 4.2±0.9, 5.1±1.0, 4.2±1.5, 4.6±1.4, 4.8±1.2, and 5.2±1.0 before surgery (with t values of 7.24, 11.70, 4.31, 9.57, 4.17, and 9.30, respectively, P<0.05). The patient self-rating scale assessment showed that the scores for pain, pruritus, color, stiffness, irregularity, thickness, and overall satisfaction of the scars in the recipient areas were 1.3±0.5, 1.3±0.4, 1.9±1.0, 2.3±1.1, 1.8±0.8, 1.9±0.8, and 1.9±0.7, respectively, which were significantly lower than 2.9±1.0, 2.6±0.9, 4.2±1.5, 5.3±2.0, 4.0±1.2, 4.6±1.3, and 4.8±1.4 before surgery (with t values of 6.09, 5.20, 8.07, 9.17, 8.00, 8.60, and 8.81, respectively, P<0.05). Conclusions:Transplantation of the fat flaps with vascular anastomosis can safely and effectively reconstruct facial depressed scars, and significantly improve the aesthetic contour and scar-related symptoms. This technique yields stable long-term outcomes with high patient satisfaction, demonstrating high value of clinical application.

Objective To invegtigate the possible etiology,clinical characteristics,and treatment effects of post tympanoplasty full-frequency bone conduction hearing loss in the operated ear.Methods A retrospective analy-sis was conducted on the possible causes,clinical manifestations,and diagnosis and treatment of 6 cases of full-fre-quency bone conduction hearing loss in the operated ear after tympanoplasty.Results The use of diluted epineph-rine during surgery,controlled hypotension during the operation,ethylene oxide in gelatin sponges,and the exces-sive pro-inflammatory factors produced postoperatively may be associated with the occurrence of full-frequency bone conduction hearing loss in the operated ear after tympanoplasty.Among the six patients,the main initial symptom was dizziness without vertigo or nystagmus.Two cases were ineffectively treated,one case was effectively treated,and three cases were cured.Among the four cases that received timely medication,three were effectively treated.Conclusion Full-frequency bone conduction hearing loss in the operated ear after tympanoplasty is related to various factors,and the clinical manifestations of patients are atypical,often manifesting as dizziness.Timely diagnosis through pure tone audiometry and timely treatment according to the sudden deafness treatment plan often leads to fa-vorable outcomes.