OBJECTIVE: To summarize the clinical and genetic characteristics of a child with 46,XX Ovotesticular disorder of sex development (46,XX OTDSD) due to copy number variation of SOX3 gene. METHODS: A 46,XX male patient presented at the Capital Center for Children's Health, Capital Medical University in November 2024 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples were taken from the child and his parents and subjected to trio whole-genome sequencing. Skewed X-chromosome inactivation was tested in the child and his mother. A literature review was carried out on 46,XX males associated with mutations of the SOX3 gene. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: SHERLL2025056). RESULTS: The 10-year-old boy presented with hypospadias and cryptorchidism at birth. Chromosome analysis at one year and a half revealed a 46,XX karyotype. Gonadal biopsy showed testicular tissue, while ultrasound at the age of 10 detected ovotesticular tissue. Whole-genome sequencing identified a 660 kb duplication in the Xq27.1 region, which was derived from his mother. X-chromosome inactivation testing showed random inactivation in the child and mild non-random inactivation in the mother. Literature review has found 11 publications involving 15 patients (including our case), among whom 14 had a male social gender. They had primarily presented with hypospadias at birth but had no significant endocrine abnormalities. Most patients had experienced testicular failure after puberty. SOX3 related 46,XX males are mainly caused by de novo duplications, although a few maternal carriers had been discovered. CONCLUSION Duplication of the SOX3 gene probably underlay the pathogenesis is this 46,XX male. Individuals with 46,XX SRY negative male phenotypes should be routinely screened for SOX3 gene variants. Structural variations of the SOX3 gene can lead to complete or partial sex reversal in 46,XX individuals with minimal impact on intellectual and motor development, as well as other endocrine hormones.
Child ; Humans ; Male ; 46, XX Disorders of Sex Development/genetics* ; DNA Copy Number Variations ; Gene Duplication ; Phenotype ; SOXB1 Transcription Factors/genetics*

Objective: To investigate the clinical efficacy and safety of pudendal nerve modulation (PNM) in the treatment of female pudendal neuralgia (PN)，so as to promote the clinical application of this technique. Methods: A retrospective analysis was conducted on 20 female PN patients who failed conservative treatment at Gongli Hospital during Nov.2020 and Oct.2023.All patients underwent simultaneous PNM and sacral nerve modulation (SNM) with the assistance of 3D printing navigation.Dual-stage test electrodes for PNM and SNM were implanted，followed by alternate therapeutic trial for each modality.Secondary conversion rates and longitudinal outcomes，including visual analogue score (VAS)，patient health questionnaire-9 (PHQ-9)，and quality of life (QoL) scores were compared preoperatively，post-stage Ⅰ，and at 3，6，and 12 months post-stage Ⅱ. Results: All operations were successful.After the trial phase，the secondary conversion rate for PNM was significantly higher than that for SNM; 16 patients (16/20，80%) chose the second-phase PNM implantation surgery，3 (3/20，15%) chose second-phase SNM implantation，and 1 (1/20，5%) had electrodes removed due to ineffective results from both trials.Further assessment revealed that the improvements in VAS，PHQ-9，and QoL scores for PNM patients were significantly better than those for SNM patients after the first phase of surgery and at 3，6 and 12 months after the second-phase conversion (P<0.05).No complications such as electrode migration or infection were observed during the follow-up of 12-15 months. Conclusion: PNM provides more effective relief of pain symptoms and improvements in depressive states for female PN patients compared to SNM.With the assistance of 3D printing navigation，the operation is simple and safe，and offers stable therapeutic effects.It is worthy of clinical promotion and application.

Objective To construct an automatic segmentation model to segment female urine control anatomy on MRI images based on deep learning methods in order to improve the segmentation efficiency and accuracy.Methods A dataset comprising 49 female pelvic floor muscle MRI images[30 women with varying degrees of pelvic organ prolapse(POP)and 19 healthy individuals],obtained from Faculty of Biomedical Engineering and Medical Imaging in Army Medical University,was used for model training and testing.The dataset was split into a training set(17 normal cases and 22 POP cases)and a testing set(4 normal cases and 6 POP cases)in a ratio of 8∶2.The training set was used to train UNet,UNet+++,Dense UNet,and UNet++models separately,and then input into each network.The model achieving the highest testing accuracy was selected as the backbone network.Results Under the training of UNet,UNet+++,Dense UNet,and UNet++,the 4 models achieved average Dice similarity coefficients of 61.82%,57.94%,57.63%,and 62.76%,respectively,for the segmentation of 5 anatomical structures(compressor urethrae,urethra sphincter body,bladder wall,bladder cavity and urethra submucosa).The corresponding Intersection over Union(IoU)score was 49.74%,46.59%,46.07%,and 49.44%,while the accuracy rate was 61.74%,55.03%,59.23%,and 61.91%,respectively for the 4 models.Notably,UNet++consistently outperformed UNet,UNet+++,and Dense UNet across the 3 metrics,indicating that UNet++achieved the highest overall segmentation accuracy.Conclusion In UNet,UNet++,Dense UNet and UNet++for automatic segmentation of 5 female urine control anatomical elements,UNet++achieves the best overall segmentation accuracy.

As a novel form of cell death, ferroptosis is mainly regulated by the accumulation of soluble iron ions in the cytoplasm and the production of lipid peroxides and is closely associated with several diseases, including acute kidney injury, ischemic reperfusion injury, neurodegenerative diseases, and cancer. The term "immunosuppression" refers to various factors that can directly harm immune cells' structure and function and affect the synthesis, release, and biological activity of immune molecules, leading to the insufficient response of the immune system to antigen production, failure to successfully resist the invasion of foreign pathogens, and even organ damage and metabolic disorders. An immunosuppressive phase commonly occurs in the progression of many ferroptosis-related diseases, and ferroptosis can directly inhibit immune cell function. However, the relationship between ferroptosis and immunosuppression has not yet been published due to their complicated interactions in various diseases. Therefore, this review deeply discusses the contribution of ferroptosis to immunosuppression in specific cases. In addition to offering new therapeutic targets for ferroptosis-related diseases, the findings will help clarify the issues on how ferroptosis contributes to immunosuppression.
Ferroptosis/immunology* ; Humans ; Immune Tolerance/immunology* ; Animals ; Immunosuppression Therapy ; Iron/metabolism* ; Neoplasms/immunology*

Objective:To analyze the clinical and genetic characteristics of children diagnosed with Noonan-syndrome associated with loose anagen hair (NS-LAH).Methods:A retrospective analysis was conducted on the clinical data of 5 children diagnosed with NS-LAH by the Endocrinology Department of the Capital Institute of Pediatrics from January 2018 to June 2024. This analysis encompassed the patients′ demographic information, clinical manifestations, distinguishing features, treatment regimens, and prognostic outcomes to elucidate their clinical characteristics. Additionally, whole-exome sequencing and Sanger sequencing were utilized to investigate the genetic etiology within the families, and the identified variations were interpreted according to the guidelines of the American College of Medical Genetics and Genomics.Results:Among the 5 NS-LAH patients, there were 3 boys and 2 girls, with ages at diagnosis ranging from 2.3 to 7.7 years old. All patients presented with short stature as a primary complaint. Birth histories were generally unremarkable, though case 2 and 5 of macrosomia were noted. In addition to the characteristic facial features of Noonan syndrome, short stature, and varying degrees of intellectual and motor developmental delay, all 5 patients exhibited sparse hair that was easily shed, as well as enlarged head circumferences. Four patients showed structural cardiac abnormalities, which included a case of hypertrophic cardiomyopathy, 2 cases of atrial septal defect, and 1 case of patent foramen ovale. Genetic analysis revealed heterozygous missense variantion in SHOC2 gene in 4 patients, comprising 3 cases with c.4A>G (p.S2G) and one case with c.519G>C (p.M173I). Additionally, one patient was found to have a heterozygous missense variantion c.146C>G (p.P49R) in PPP1CB gene. Three children were diagnosed with growth hormone deficiency and treated with growth hormone for 1.7, 2.7 and 0.5 years. This resulted in significant improvements in height, with annual increases of 11.8, 8.4 and 13.0 cm, respectively. Among the 4 patients with SHOC2 variantions, 2 developed systemic lupus erythematosus and 1 exhibited symptoms of arthritis.Conclusions:Growth failure is the primary complaint in patients with NS-LAH. Key characteristic findings include enlarged head circumference and sparse, loose hair. Growth hormone deficiency is commonly associated with NS-LAH, and growth hormone therapy is generally effective. Furthermore, patients carrying the classic variantion in SHOC2 (c.4A>G) may have an increased risk of developing autoimmune diseases.

Objective:To analyze the clinical characteristics of familial hypercholesterolemia (FH) in children and provide a basis for clinical diagnosis and individualized treatment.Methods:Case series study. Clinical data of 24 children with FH, who were admitted to the Department of Endocrinology in Capital Center for Children′s Health, Capital Medical University, from January 2018 to January 2025, were analyzed. Follow-ups were performed every 3-6 months and ended in January 2025. According to the results of genetic testing, the children were divided into homozygous familial hypercholesterolemia (HoFH) group and heterozygous familial hypercholesterolemia (HeFH) group. The blood lipid levels of different subtypes, the efficacy of different treatments, and clinical outcomes were compared by Mann-Whitney U test. Results:The 24 children were from 17 families, including 14 males and 10 females, with a diagnostic age of 5.0 (3.0, 9.5) years. Genetic testing results showed that 22 cases (92%) had LDLR gene variants and 2 cases (8%) had APOB gene variants, all of which were inherited from parents. There were 5 cases (21%) of HoFH and 19 cases (79%) of HeFH, and 4 previously unreported new loci were identified. There were 6 children (25%) presented with xanthomas, including 5 cases of HoFH and 1 case of HeFH. The level of low-density lipoprotein cholesterol (LDL-C) in the HoFH group was significantly higher than that in the HeFH group ( P<0.05). Regarding treatment, 11 children received dietary control without taking medicine, 6 were treated with statins, 3 with ezetimibe, and 3 with statins combined with ezetimibe, and 1 underwent liver transplantation. None of the children receiving only dietary control achieved the target LDL-C level (<3.49 mmol/L or a reduction of >50%), and there was no statistically significant difference in LDL-C before and after dietary control ( P=0.158). After treatment with statins and (or) ezetimibe, LDL-C decreased in 12 children ( P<0.05); among them, 6 cases (all HeFH) reached the target LDL-C level. There was no statistically difference in LDL-C levels before and after treatment with atorvastatin and ezetimibe in 5 HoFH children( P>0.05). One HoFH child had LDL-C reduced to the normal range after liver transplantation. No serious adverse reactions were observed in all children during drug treatment. In the detection of vascular-related complications among 12 HeFH children, only 1 child had a slight thickening of the bilateral carotid intima-media, while no abnormalities were found in the others. Conclusions:Xanthoma is a characteristic manifestation of FH, but its incidence is relatively low in HeFH children. Family history and genetic testing are key evidences for the diagnosis of FH. Dietary control has limited efficacy in children with FH, and drug treatment should be initiated as early as possible. LDL-C levels in HoFH children are more difficult to control, if drug treatment shows poor efficacy, liver transplantation may be a better option.

Objective:To explore the clinical application value of optical navigation system（ONS）-guided sacral neuromodulation（SNM）electrode implantation for precise puncture.Methods:?This study was a randomized，controlled trial. Patients who underwent SNM electrode implantation at the Gongli Hospital，Pudong New Area，Shanghai，from February 2024 to March 2025 were included. Inclusion criteria：aged 18?80 years，meeting the indications recommended by the Chinese expert consensus on the clinical application of sacral neuromodulation or expanded applications，and having completed pelvic CT and MRI examinations to ensure image quality for navigation system use. Exclusion criteria：progressive neurological diseases，severe urinary tract infections，urinary tract obstruction，or other conditions that may affect surgical outcomes and safety. Patients were randomly divided into two groups using a random number table and a single-blind design was implemented. The two groups underwent different puncture guidance methods in the stage Ⅰ surgery，but other treatments and follow-up measures were consistent.The experimental group used ONS-guided puncture with preoperative pelvic CT and MRI scans for multimodal image fusion and 3D reconstruction and software-based puncture path planning for real-time intraoperative guidance. The control group used X-ray-guided cross-positioning，determining the S3 sacral foramen for puncture based on anatomical landmarks with a metal positioning ruler under fluoroscopy. The puncture path was planned using software to achieve real-time intraoperative guidance. Intraoperative indicators（number of punctures，puncture time，electrode contact points，minimum effective voltage，X-ray fluoroscopy time，radiation dose，total surgical time）and postoperative outcomes（complications，pain scores，stage Ⅱ permanent implantation rates）were compared between the two groups to assess the advantages and feasibility of ONS-guided sacral nerve electrode implantation.Results:?A total of 35 patients were included in each group. The experimental group had fewer intraoperative puncture attempts［2.0（2.0，3.0）vs. 5.0（4.0，7.0）］and shorter puncture procedure time［7.5（6.0，10.0）min vs. 14.0（12.0，18.0）min］，indicating more accurate and efficient ONS-guided puncture. There was no statistical difference in the number of electrode contact points between the two groups［3.0（3.0，4.0）vs. 3.0（3.5，3.8）， P = 0.374］，but the experimental group had a lower effective voltage［1.8（1.8，2.5）V vs. 2.5（1.8，3.0）V］and shorter stimulator adjustment time［10.0（8.0，12.0）min vs. 16.0（13.0，20.0）min］. The experimental group had shorter intraoperative X-ray fluoroscopy time［1.6（1.1，2.2）min vs. 4.6（3.8，6.0）min］，lower radiation dose［165.8（107.6，205.3）mGy vs. 427.4（325.1，636.5）mGy］，shorter total surgical time［52.0（49.0，57.8）min vs. 68.0（62.0，74.0）min］，less intraoperative blood loss［4.0（4.0，5.0）ml vs. 6.0（5.0，7.0）ml］，and a lower proportion of patients requiring supplemental local anesthesia［14.3%（5/35）vs. 40.0%（14/35）］. The postoperative wound infection rates were not statistically different between the two groups［0 vs. 2.9%（1/35）， P = 1.000］，but the experimental group had significantly lower pain scores on postoperative day 1［（1.9 ± 1.1）vs.（3.2 ± 1.4）］and a higher stage Ⅱ permanent implantation rate［85.7%（30/35）vs. 65.7%（23/35）］，with statistically significant differences（ P < 0.05）. Conclusions:?ONS-guided SNM electrode implantation reduces the number of puncture attempts，surgical time，and X-ray radiation，effectively lowers the effective voltage，and increases the stage Ⅱ permanent implantation rate.

Objective Summarize the endocrine characteristics of 5 children with Wiedemann-Steiner syndrome(WDSTS)to enhance the early recognition capability of clinicians for this condition.Methods A retrospective analysis of the medical history,clinical manifestations,genetic testing,and treatment of 5 children with Wiedemann-Steiner syndrome treated in the endocrinology department of capital center for children's health,capital medical university from October 2020 to December 2024,summarizing the clinical characteristics of the disease.Results Among the 5 cases of WDSTS,there were 2 males and 3 females,with ages ranging from 1.9 to 10 years at the time of diagnosis.Cases 1 and 3 were born prematurely,and cases 1,2 and 5 were diagnosed as small for gestational age(SGA)infants.All 5 children exhibited distinctive facial features,hirsutism,sacral dimple,developmental delay,and adenoid hypertrophy,premature tooth replacement,feeding difficulties,and a high incidence of urinary system abnormalities.Four children complained of slow growth.Cases 1 and 4 were diagnosed with short stature.Cases 3 and 5 had normal height but were slightly shorter with advanced bone age.Case 5 also experienced early puberty.Case 2 was diagnosed with premature adrenarche and idiopathic central precocious puberty due to the presence of pubic hair and breast enlargement.Cases 1 and 3 were treated with recombinant human growth hormone(rhGH),which resulted in significant height growth(approximately 10 cm/year).However,treatment was discontinued in Case 1 due to a significant advancement in bone age.Conclusions WDSTS should be considered in patients presenting with short stature,distinctive facial features,hirsutism,developmental delay,and multiple system deformities.While rhGH treatment can help improve height in these patients,the potential for accelerated bone age maturation during treatment requires careful monitoring.

STC is a kind of clinically common functional gastrointestinal disease.Its pathogenesis hasn't been completely clarified,and current diagnosis and treatment norms are certainly limited.In recent years,"Brain-Gut Axis"theory has unveiled the complex bidirectional regulation mechanism between brain and intestinal tract,rendering new perspective for the research and treatment of STC.TCM theory demonstrates that there is close connection between brain and gut,has formed abundant experience in discrimination and treatment of STC and formed unique diagnosis and treatment ideas.Based on the theory of"Brain-Gut Axis"and"excess syndrome is corresponding to Zhanyu,deficiency syndrome is corresponding to Zhengsheng"in the chapter on Yangming diseases in"Treatise on Febrile Diseases",this paper elaborates on the relationship between the"Brain-Gut Axis"and STC.Meanwhile,by combining the theory of"excess syndrome is corresponding to Zhanyu,deficiency syndrome is corresponding to Zhengsheng"with the"Brain-Gut Axis"theory,it analyzes the influence of the excess and deficiency of the Yangming meridian on the mental state as well as the regulatory mechanism of the"Brain-Gut Axis",and puts forward corresponding treatment methods according to different syndromes.By integrating the relevant provisions in"Treatise on Febrile Diseases"with the"Brain-Gut Axis"theory of modern medicine,this paper makes a preliminary exploration of the laws of differentiating and treating STC,aiming to provide a theoretical basis for promoting a more comprehensive understanding of the pathogenesis of STC and developing more effective treatment strategies.

STC is a kind of clinically common functional gastrointestinal disease.Its pathogenesis hasn't been completely clarified,and current diagnosis and treatment norms are certainly limited.In recent years,"Brain-Gut Axis"theory has unveiled the complex bidirectional regulation mechanism between brain and intestinal tract,rendering new perspective for the research and treatment of STC.TCM theory demonstrates that there is close connection between brain and gut,has formed abundant experience in discrimination and treatment of STC and formed unique diagnosis and treatment ideas.Based on the theory of"Brain-Gut Axis"and"excess syndrome is corresponding to Zhanyu,deficiency syndrome is corresponding to Zhengsheng"in the chapter on Yangming diseases in"Treatise on Febrile Diseases",this paper elaborates on the relationship between the"Brain-Gut Axis"and STC.Meanwhile,by combining the theory of"excess syndrome is corresponding to Zhanyu,deficiency syndrome is corresponding to Zhengsheng"with the"Brain-Gut Axis"theory,it analyzes the influence of the excess and deficiency of the Yangming meridian on the mental state as well as the regulatory mechanism of the"Brain-Gut Axis",and puts forward corresponding treatment methods according to different syndromes.By integrating the relevant provisions in"Treatise on Febrile Diseases"with the"Brain-Gut Axis"theory of modern medicine,this paper makes a preliminary exploration of the laws of differentiating and treating STC,aiming to provide a theoretical basis for promoting a more comprehensive understanding of the pathogenesis of STC and developing more effective treatment strategies.