Advanced endometrial cancer/recurrent endometrial cancer (AEC/REC) has limited efficacy with conventional treatments and is a major challenge in gynecologic oncology. Platinum-based combination chemotherapy, as the traditional first- and second-line regimen, has limitations including suboptimal objective response rate (ORR) and short duration of response (DOR), highlighting the urgent to explore new strategies. Immune checkpoint inhibitors (ICI) show breakthrough efficacy in microsatellite instability-high (MSI-H)/mismatch repair-deficient (dMMR) subtypes, representing a key advance in precision immunotherapy. However, ICI monotherapy has poor efficacy in microsatellite stable (MSS)/mismatch repair-proficient (pMMR) subtypes, necessitating exploration of more effective combination strategies. This article systematically reviews the latest research status of targeted therapy combined with immunotherapy for AEC/REC domestically and internationally. Through exploring synergistic mechanisms, analyzing key clinical data, evaluating existing evidence, and forecasting trends, it deeply discusses current focal and challenging issues in this field, aiming to provide evidence-based support for clinical decision-making.

To investigates the application of AI-assisted pelvic floor ultrasound combined with tomographic ultrasound imaging (TUI) in assessing the structure and function of pelvic floor muscles in patients with postpartum pelvic floor dysfunction (PFD).

A total of 115 postpartum PFD patients admitted to Cangzhou People′s Hospital from April 2021 to October 2023 were selected as the research subjects and included in the PFD group. Additionally, 96 primiparous women without PFD during the same period were selected as the control group. All subjects′ ultrasound images were independently diagnosed by two examiners using a double-blind method. The detrusor wall thickness (DWT), bladder neck descent (BND), retrovesical angle (RA), and urethral rotation angle (URA) measured by intelligent pelvic floor ultrasound under resting state and Valsalva maneuver were compared between the two groups. In addition, the levator hiatus (HA) area, anteroposterior diameter, transverse diameter, and thickness under resting state, anal contraction, and Valsalva maneuver were also compared. The intraclass correlation coefficient (ICC) was used to assess the consistency of parameter measurements from intelligent pelvic floor ultrasound between the two physicians. The diagnostic performance of intelligent pelvic floor ultrasound combined with TUI technology for PFD was evaluated by drawing receiver operating characteristic (ROC) curves. The procedures followed in this study were in accordance with the requirements of the Medical Ethics Committee of Cangzhou People′s Hospital and were approved (Approval No.K2020141). Informed consents were obtained from all subjects.

① There were no statistically significant differences between the two groups in age, postpartum body mass index (BMI), distribution of delivery modes, or episiotomy rates (P>0.05). ② Under both resting conditions and during the Valsalva maneuver, the DWT, BND, RA, and URA were significantly higher in the PFD group compared to the control group (P<0.05). Additionally, the HA area, anteroposterior diameter, transverse diameter, and levator ani muscle thickness were all significantly greater in the PFD group under resting, anal contraction, and Valsalva conditions (P<0.05). ③ The inter-observer agreement for AI-assisted pelvic floor ultrasound measurements was high, with ICC all exceeding 0.75. ROC curve analysis demonstrated that the area under the curve (AUC) for diagnosing PFD was 0.727 (95%CI: 0.657-0.797) using AI-assisted pelvic floor ultrasound alone, 0.777 (95%CI: 0.711-0.842) using TUI alone, and 0.884 (95%CI: 0.878-0.935) when the two modalities were combined.

AI-assisted pelvic floor ultrasound combined with TUI enables dynamic evaluation of structural and functional changes in the pelvic floor muscles of patients with PFD. The measurements demonstrate high reproducibility, providing a reliable imaging basis for the clinical diagnosis of PFD.

Endometrial polyps are a relatively common lesion in gynecological clinic. There are differences between pathological and clinical diagnoses of endometrial polyps. The malignant changes are found in some endometrial polyps cases. It is necessary to pay attention to this. This article focuses on the research progress of the pathological diagnosis criteria, the types of polyps and malignant transformation in endometrial polyps, so as to provide a reference for the accurate clinical diagnosis of endometrial polyps and the prevention of their malignant transformation.

At present, the literature reports on the incidence of small for gestational age (SGA) infants in the world are not uniform, ranging from 6.61% to 12.28%. Compared with appropriate for gestational age (AGA) infants, SGA infants have higher mortality, and higher perinatal complications and long-term complications. Early identification of SGA infants related risk factors and complications, and timely intervention are the key to improve their long-term prognosis. The author intends to review the latest research progress in three aspects about epidemiological research status of SGA infants, high risk factors and prevention of SGA infants, perinatal complications and prognosis of SGA infants, and intervention measures for SGA infants after birth and related measures to improve prognosis, in order to provide reference for further clinical research on the diagnosis and treatment of SGA infants.

In China, elderly patients are often diagnosed with cervical cancer at an advanced stage. Due to generally poor physical condition and limited willingness to undergo radical treatment, they frequently experience poor prognosis. The Gynecology Branch of Chines Geriatrics Society has developed the Chinese Expert Consensus on Standardized Diagnosis and Treatment of Cervical Cancer in the Elderly (2024 Edition) (hereinafter referred to as " the Consensus" ). The Consensus addresses challenges in diagnosis and assessment, key aspects of comprehensive functional evaluation, and hot topics in the integrated treatment of cervical cancer in elderly patients with cervical cancer. The Consensus defines elderly cervical cancer patients as those aged >60 years. For its effective implementation, multi-party collaboration is essential. These includes improving the coverage of cervical cancer screening for elderly patients, enhancing patient education, and optimizing the allocation of healthcare resources, thereby elevating the standardized diagnosis and treatment level in clinical practice. The author aims to interpret key recommendations from the Consensus, focusing on the diagnosis, comprehensive functional evaluation, and treatment principles for elderly cervical cancer patients. This interpretation seeks to provide detailed reference for the clinical management of elderly cervical cancer patients in gynecological practice.

To explore the breast ultrasound examination and histopathological findings of breast solid papillary carcinoma (SPC).

A total of 81 patients with breast SPC who underwent surgical treatment at Shanxi Provincial Cancer Hospital from January 2014 to May 2022 and were confirmed by pathological examination of surgically resected tissues were selected as the research subjects. According to pathological subtypes, they were divided into in situ group (n=34) and invasive group (n=47). Retrospective analysis methods were used to collect lesion location, onset age, initial symptoms, breast ultrasound results, and pathological results of the two groups. Statistical analysis was performed using chi-square test, continuity correction chi-square test, or Fisher′s exact probability method. This study followed the requirements of the 2013 revised World Medical Association Declaration of Helsinki.

① Patients with breast SPC were significantly older, with 56 cases (69.1%) aged ≥60 years. The first symptom of 61 cases (75.3%) was a palpable breast mass.There were no statistically significant differences in lesion location, onset age, and initial symptom composition between two groups (P>0.05). ② The results of breast ultrasound examination of these 81 patients showed SPC masses predominantly exhibited a single occurrence (65 cases, 80.2%), hypoechoic characteristics (72 cases, 88.9%), irregular morphology (50 cases, 61.7%), well-defined borders (48 cases, 59.3%), parallel growth orientation (68 cases, 84%), absence of calcification (75 cases, 92.6%), unchanged posterior echo (67 cases, 82.7%), Adler blood flow grade Ⅱ-Ⅲ (49 cases, 60.5%), no lymph node metastasis (80 cases, 98.8%), and no ductal ectasia (61 cases, 75.3%). However, no statistically significant differences were observed between in situ and invasive groups regarding these parameters (all P>0.05). In the invasive group, 89.4% (42/47) of those diagnosed with Breast Imaging Reporting and Data System (BI-RADS) category 4 by breast ultrasound were significantly higher than 67.6% (23/34) in the in situ group (χ²=5.87, P=0.015). ③The immunohistochemical results of surgically resected tissues from 81 patients showed that the estrogen receptor (ER) and progesterone receptor (PR) positive rates of SPC cells were 100.0% (81/81), the P63 positive rate was 39.5% (32/81), and the Syn and CgA positive rates were 63.0% (51/81) and 51.8% (42/81), respectively. The in situ group exhibited significantly higher P63 positive rate than the invasive group, with a statistically significant difference (P<0.001). However, no statistically significant differences were observed between the two groups in Syn and CgA positive rates (P>0.05).

The breast ultrasound examination results of patients with breast SPC have certain characteristics and are closely correlated with the SPC subtypes detected by histopathological examination. The expression of P63 in breast SPC cells is helpful for clinical differentiation of patients with in situ and invasive breast SPC.

To explore the pathogenicity of partial duplication of dystrophin gene (called DMD gene) in pregnant women found by carrier screening.

From March to November 2022, two pregnant women (pregnant woman 1, 2) who carried partial duplication in the DMD gene found by carrier screening at Department of Prenatal Diagnosis, Nanjing Women and Children′s Healthcare Hospital were enrolled. Carriers were screened by capillary electrophoresis. Partial duplications in DMD gene were confirmed by multiplex ligation-dependent probe amplification (MLPA). The copy number variation (CNV) of DMD gene was detected by MLPA in 2 pregnant women′s family members, and a pedigree chart of the families carrying a partial duplication in DMD gene was drawn. Pathogenicity of gene mutation was classified according to Standards and Guidelines for the Interpretation of Sequence Variants set by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as ＂ACMG guidelines＂). The pathogenicity of the partial duplication in DMD gene was interpreted based on database records and their reported literature and clinical manifestations of males carrying the duplication. This study was reviewed and approved by the Ethics Committee of Nanjing Women and Children′s Healthcare Hospital [Approval No. (2020)KY-057)], and all participants signed written consent forms.

①Carrier screening identified that pregnant woman 1, 2 carried duplications of exon 1-6 and exon 1-9 in DMD gene, respectively, corresponding to ChrX: 33339448-32816399 (GRCh38) and ChrX: 33339448-32697885 (GRCh38). ② Duplication of exon 1-6 in DMD gene carried by pregnant woman 1 have been documented in databases and its pathogenicity was reported in related literature; however, duplication of exon 1-9 in DMD gene carried by pregnant woman 2 has not been recorded or reported. ③ Pedigree analysis showed that there were healthy males in two pregnant women′s family carrying the same duplications, suggesting those two duplications are likely to be non-pathogenic.

To provide accurate genetic counselling and avoid unnecessary invasive prenatal diagnosis measure, pedigree analysis of DMD gene duplications should be considered when carrier screening identified variants with variants of uncertain significance (VUS) in DMD gene.

Endometrial cancer (EC) remains one of the most prevalent gynecologic malignancies, ranking second in incidence and third in mortality among gynecologic cancers in China. The Chinese Expert Consensus on Surgical Treatment of Endometrial Cancer in the Elderly (2024 Edition) (hereinafter referred to as " the Consensus" ) outlines evidence-based recommendations for optimizing surgical management in elderly patients with EC. It proposes that comprehensive assessment of physical function and tumor resectability, preoperative optimization of frailty and comorbidities, individualized anesthesia strategies, and enhanced perioperative care, which including enhanced recovery after surgery (ERAS) nutritional support and complication prevention, may contribute to improved outcomes. In the Consensus, elderly EC is defined as disease occurring in individuals aged ≥65 years. The Consensus serves as a reference for the standardization of surgical treatment and perioperative management in this population. This article reviews and interprets the key recommendations presented in the Consensus, focusing on the clinical characteristics, prognosis, and surgical management of elderly EC, as well as comprehensive perioperative care strategies, to support clinicians in understanding and applying these recommendations in clinical practice.

To investigate the clinical characteristics and genetic variations of Gitelman syndrome (GS).

A case of GS diagnosed in November 2024 at Xi′an Children′s Hospital (patient 1) was included in the study. Clinical data, whole-exome sequencing (WES) results, and sanger sequencing validation results of patient 1 were retrospectively collected. Variants identified were classified for pathogenicity according to the Standards and Guidelines for the Interpretation of Sequence Variants by the American College of Medical Genetics and Genomics (ACMG). Literature on pediatric GS cases confirmed to be caused by SLC12A3 gene mutations was retrieved from the China National Knowledge Infrastructure (CNKI), Wanfang Database, VIP Chinese Science and Technology Journal Database, and PubMed, using the Chinese and English keywords " Gitelman syndrome" and " SLC12A3". The literature search period was set from January 1, 2022, to March 31, 2025. The procedures of this study complied with the regulations of the Ethics Committee of Xi′an Children′s Hospital and were approved by the committee (Approval No.20240133). Informed consent was obtained from the guardian of patient 1.

①The patient is a 6-year-and-6-month-old boy who admitted to case collected hospital with " intermittent vomiting for two week." The results of relevant auxiliary examinations at admission showed low serum K⁺ concentration which was 1.64 mmol/L and low serum Cl^- concentration which was 89.7 mmol/L while serum Mg²⁺, Ca²⁺, and Na⁺ concentrations were normal. Despite repeated potassium supplementation, the therapeutic response was poor. The etiology of hypokalemia remained unclear, suggesting the possibility of an underlying genetic disorder. His result of genetic testing showed SLC12A3 gene compound heterozygous mutations: c. 1956delC(p.Asn653Thrfs*19) and c. 2029G>A(p.Val677Met), inherited from his father and mother, respectively. Based on his clinical manifestations and genetic testing results, he was diagnosed as GS. After oral treatment by potassium chloride and spironolactone, the patient 1 showed no recurrence of vomiting symptoms upon follow-up until May 2025, with serum electrolyte levels remaining within normal ranges. ②Literature review results: a total of 20 pieces of relevant research literature involving 24 cases of GS children caused by SLC12A3 gene mutations were retrieved. Among them, 7 cases exhibited growth retardation, and 3 cases primarily presented with vomiting symptoms at onset. All patients demonstrated hypokalemia. Six cases showed normal serum magnesium levels, while the remaining patients exhibited varying degrees of hypochloremic alkalosis, hypophosphatemia, hypocalciuria, and elevated renin-angiotensin-aldosterone system activity.

Childhood GS has an atypical clinical presentation in childhood. The presence of refractory hypokalemia and metabolic alkalosis warrants high clinical suspicion, and prompt genetic confirmation is critical for diagnosis and treatment.

To explore the clinical manifestations, diagnosis and treatment methods of patients with uterine cystic adenomyoma (UCA).

A patient with spontaneous rupture of UCA who was treated at the Chengdu First People′s Hospital in June 2023 (patient 1) was selected as the subject. A retrospective analysis method was used to collect the patient′s examination results after admission, main treatment process, pathological examination and follow-up results. Keywords such as " uterine cystic adenomyoma" " uterine adenomyosis cyst" " cystic adenomyoma" " adenomyotic cyst" " uterine adenomyoma" in both Chinese and English were used to retrieve literature related to UCA from CNKI, Wanfang Data Knowledge Service Platform, VIP Chinese Science and Technology Journal Database, and PubMed literature databases. The literature search time was set from the establishment of the above databases to August 31, 2024. The procedures followed in this study were in accordance with the requirements of Helsinki Declaration of the World Medical Association revised in 2013.

①Patient 1, a 38-year-old woman (G₁P₁), had a history of cesarean delivery. Her menstrual cycle was regular, without dysmenorrhea, and her last menstruation started on June 25, 2023. On June 28, 2023, she was admitted to emergency department of our hospital due to " sudden lower abdominal pain, continuous colic, with nausea and vomiting". And the pain was relieved after treatment. On June 30, 2023, follow-up at our hospital′s gynecology outpatient clinic showed significant pain relief, but transvaginal color Doppler ultrasound indicated abnormalities. She was hospitalized in our hospital on July 3, 2023. Enhanced abdominal CT after admission revealed abnormal uterine morphology, uneven enhancement, a 4.5 cm × 4.4 cm × 4.5 cm mass posterior to the uterus, poorly defined, suggesting a uterine tumor. The initial diagnosis upon admission was pelvic mass, suspected adnexal mass, intestinal tumor, or sacral tumor. On July 6, 2023, single-port laparoscopy and UCA resection were performed. Intraoperatively, old hemorrhage and a 5 cm × 5 cm × 4 cm uterine mass near the posterior cervix were found, containing a chocolate-like cystic lesion. Based on medical history, clinical presentation, auxiliary tests, surgery, and pathological examination results, patient 1 was diagnosed with ruptured UCA. After the operation, she was treated with leuprorelin and long-term oral administration of dienogest. The results of vaginal ultrasound about 2 years after the operation showed a uterus of 6.3 cm × 4.1 cm × 4.3 cm with multiple hypoechoic nodules, the largest (2.0 cm × 1.9 cm × 1.7 cm) in the posterior wall, with relatively clear borders but irregular shape. ②Literature review results: According to the literature search strategy set for this study, excluding cases of juvenile UCA in patients under 30 years of age, 25 articles related to adult UCA patient studies were retrieved, involving 54 UCA patients. Combining patient 1, a total of 55 UCA patients were studied. The median age of these 55 patients was 38.6 years; 14 patients (25.5%) had clinical symptoms of prolonged menstruation, increased menstrual flow with abdominal pain, 11 patients (20.0%) had progressively severe dysmenorrhea, 17 patients (30.9%) had irregular vaginal bleeding, 7 patients (12.7%) had acute abdominal pain or chronic pelvic pain, and 6 patients (10.9%) had pelvic or uterine cavity mass. Only 12 patients (21.8%) were preoperatively diagnosed with UCA, while the other 43 patients (78.2%) were misdiagnosed, and all 55 cases were diagnosed as UCA by histopathological examination. And 47 patients (85.5%) underwent surgical treatment, 7 patients underwent ultrasound-guided puncture, and 1 patient underwent conservative treatment. After treatment, the above clinical symptoms were relieved.

UCA is difficult to diagnose preoperatively and is easily misdiagnosed. It needs to be diagnosed based on the patient′s clinical manifestations, imaging examinations, and pathological examinations. Surgery is the main treatment method with a relatively good prognosis.

To investigate the correlation between surgical complexity score (SCS), disease score (DS), and residual disease (RD) in patients with advanced epithelial ovarian cancer (EOC) undergoing interval debulking surgery (IDS), with the aim of informing individualized surgical decision-making.

A total of 160 patients with advanced EOC who underwent neoadjuvant chemotherapy (NACT) followed by IDS at West China Second University Hospital, Sichuan University, between September 2013 and June 2018 were retrospectively analyzed. According to whether complete cytoreduction (R0) was achieved, patients were categorized into the R0 group (n=86) and the RD group (n=74). Clinical data, including baseline characteristics, histopathological findings, laboratory results, postoperative complications, and prognosis, were collected for both groups. Statistical analyses were performed using the Mann-Whitney U test, Pearson′s chi-square test, or Fisher′s exact test, as appropriate, to compare clinical variables between the two groups. Multivariate unconditional logistic regression analysis was conducted to identify independent factors associated with achieving R0 resection in advanced EOC patients. The Mantel-Haenszel chi-square test was used to evaluate the correlation between SCS and DS. Kaplan-Meier survival analysis with the Log-rank test was employed to compare overall survival (OS) between the R0 and RD groups. This study was approved by the Ethics Committee of West China Second University Hospital, Sichuan University, and conducted in accordance with its ethical requirements (Approval No. 2022-167).

① The preoperative carbohydrate antigen 125 (CA125) level in the RD group was significantly higher than that in the R0 group (Z=-2.52, P=0.012). ② The distribution of DS grades between the two groups differed significantly was (χ²=10.92, P=0.004), the distribution of SCS between the two groups also differed significantly (χ²=15.41, P=0.001). DS was an independent risk factor for reaching R0 after receiving IDS, while SCS was an independent protective factor. Multivariate unconditional logistic regression analysis indicated that patients with moderate DS had a significantly lower likelihood of achieving R0 resection compared with those with low DS (OR=0.094, 95%CI: 0.021-0.431, P=0.002), whereas patients with moderate SCS were more likely to achieve R0 compared with those with low SCS (OR=13.660, 95%CI: 2.150-86.803, P=0.006). ③ Mantel-Haenszel χ² test revealed no significant trend correlation between DS and SCS in patients with advanced EOC (χ²=0.01, P=0.906). ④ The Log-rank test demonstrated that the survival curves of the two groups differed significantly (χ²=9.46, P=0.002). ⑤ Comparisons of age, American Society of Anesthesiologists (ASA) classification, DS grade, and SCS grade between patients with and without postoperative complications showed no significant differences (all P>0.05).

For patients with advanced EOC treated with NACT followed by IDS, increasing surgical complexity may facilitate the achievement of R0 resection and improve prognosis. However, such an approach requires careful consideration of tumor burden and the risk of postoperative complications. Preoperative comprehensive evaluation and individualized decision-making are therefore recommended.

Turner syndrome (TS), or congenital ovarian dysgenesis syndrome, is a multisystem condition presenting with clinical features such as short stature, delayed puberty, ovarian dysgenesis, and congenital heart defects. In May 2024, the European Society of Endocrinology (ESE) and partner organizations released an update to the clinical practice guidelines for TS management, titled Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome (referred to as " the Guidelines" ). Building on the Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome: Proceedings from the 2016 Cincinnati International Turner Syndrome Meeting (referred to as " 2016 Guidelines" ), the Guidelines provides expanded recommendations on early diagnosis, treatment, monitoring, and management of comorbidities in TS, emphasizing multidisciplinary care. This article highlights key aspects of the Guidelines to support clinical practice among pediatricians in China.

With the development of molecular biology techniques, molecular diagnosis and treatment technologies can significantly improve the prognosis of ovarian cancer patients by precisely identifying the characteristics of tumor cells. Molecular diagnostic techniques for tumors mainly focus on analyzing the molecular features of tumor cells, including multiple levels such as genomics, transcriptomics, proteomics, and metabolomics. In the diagnosis and treatment of ovarian cancer, an increasing number of molecular targeted therapeutic drugs have been developed. Among them, the most widely used are poly-ADP-ribose polymerase (PARP) inhibitors and anti-angiogenic drugs, while others include immune checkpoint blockade (ICB), antibody-drug conjugate (ADC), and targeted drugs for other human signaling pathways. The main difficulty in molecular diagnosis and treatment of ovarian cancer lies in its heterogeneity. We need to develop more precise molecular typing methods and provide more targeted treatments for them. The focus of molecular diagnosis and treatment is to formulate individualized treatment plans through comprehensive analysis of patients′ genomic, transcriptomic, and proteomic data. The hotspots in the field of molecular diagnosis and treatment of ovarian cancer mainly include the application of PARP inhibitors in ovarian cancer, new ADC, research on drug resistance mechanisms, and the clinical application of artificial intelligence in complex data analysis. The author intends to systematically elaborate on the latest research status of the application of molecular diagnostic techniques in the clinical diagnosis of ovarian cancer, the clinical application of molecular targeted therapeutic drugs for ovarian cancer, the clinical exploration of new molecular targeted therapeutic drugs, and the clinical application of immunotherapy for ovarian cancer, aiming to provide a reference for the clinical application of molecular diagnosis and treatment for ovarian cancer patients.

The incidence of endometrial cancer (EC) has been increasing annually, with a trend toward younger onset age, making fertility-sparing treatment (FST) a critical option for patients with International Federation of Gynecology and Obstetrics (FIGO) stage ⅠA (tumor confined to the endometrium) and pathological features of endometrioid adenocarcinoma, G1 grade differentiation, and no myometrial invasion, who are defined as young early-stage EC (EEC) patients (<40 years old) in this study. The current FST approach focuses on achieving complete regression (CR) and preserving fertility potential through progesterone therapy, the levonorgestrel-releasing intrauterine system (LNG-IUS), and hysteroscopic resection of EC lesions. Progestin therapy (medroxyprogesterone acetate or megestrol acetate) remains the primary FST, but LNG-IUS demonstrates higher CR rates and better tolerability due to its localized high-dose progesterone release and reduced systemic side effects. Combining hysteroscopic EC lesion resection with progestin therapy further improves CR rates and pregnancy success, making it the preferred option for some young patients with EEC. Additionally, FST adjuvant therapies such as metformin, gonadotrophin releasing hormone activator (GnRHa), and aromatase inhibitors provide alternative options for obese with body mass index ≥30 kg/m² or progestin-resistant EEC patients. However, uncertainties remain regarding the optimal drug regimen, dosage, administration route, and treatment duration, posing ongoing challenges in FST of young patients with EEC. This article systematically reviews the latest FST strategies for young patients with EEC, including patient selection, diagnostic evaluation, therapeutic approaches, and long-term management, and exploring the potential role of molecular classification in personalized therapy, to provide more systematic and individualized treatment strategies and long-term management plans for young EEC patients who adopt the FST strategy, so as to improve the reproductive outcomes and long-term quality of life of young EEC patients.

To explore the contrast-enhanced ultrasound (CEUS) features of testicular adnexal torsion (TAT) in children, and the diagnostic value of CEUS in children with TAT.

A total of 86 pediatric patients with acute scrotum (AS), who were treated at the Affiliated Huai′an No.1 People′s Hospital of Nanjing Medical University between March 2020 and March 2024 and were diagnosed after surgery or conservative treatment were selected as the study subjects. All the 86 AS pediatric patients underwent both scrotal color Doppler ultrasound (CDUS) and CEUS for TAT diagnosis. The scrotal CEUS features of children with TAT were observed. The sensitivity, specificity, overall accuracy, misdiagnosis rate, missed diagnosis rate, positive predictive value, and negative predictive value of scrotal CDUS and CEUS in diagnosing TAT were calculated and compared. The diagnostic performance of the two methods for TAT was evaluated using the chi-square test or Fisher′s exact test. The study protocol was approved by the Ethics Committee of Affiliated Huai′an No.1 People′s Hospital of Nanjing Medical University (Approval No. KY-2023-004-01). Written informed consent for clinical research was obtained from the guardians of all participants.

①Of the 86 pediatric patients with AS, 62 cases were diagnosed with TAT based on histopathological examination after surgical resection or scrotal CDUS follow-up after conservative treatment. Sixteen patients were confirmed to have testicular torsion by surgical intervention. The remaining 8 patients, who exhibited epididymal enlargement, increased blood flow, and enhanced microbubble perfusion on imaging, were clinically diagnosed with epididymitis and recovered after anti-inflammatory therapy. ②The scrotal CDUS results of 86 children with AS showed nodular echoes between the upper pole of the testis and the head of the epididymis in 70 children, and decreased testicular echoes and no blood flow signals in 16 children. Among the 70 children with nodular echoes detected by scrotal CDUS, CEUS showed no contrast agent filling within the nodule in 60 children, indicating no perfusion, while the contrast agent perfusion in the ipsilateral testis and epididymis was still uniform, and these 60 children were diagnosed as TAT by CEUS, which was confirmed by surgery or scrotal CDUS follow-up after conservative treatment. CEUS showed contrast agent filling within the nodule with uniform perfusion in 8 children, which was diagnosed by CEUS as epididymitis, and confirmed by scrotal CDUS follow-up after clinical conservative treatment. Scrotal CEUS showed contrast agent filling within the nodule with uneven perfusion in 2 children, and CEUS could not make a clear diagnosis. There 2 children both were confirmed as TAT by surgery. Sixteen children with scrotal CDUS showing decreased testicular echo and no blood flow signal were diagnosed with testicular torsion by CEUS, and all were confirmed to have testicular torsion by surgery. ③The diagnostic performance of scrotal CDUS for TAT showed a sensitivity of 100.0%, a miss rate of 0, a specificity of 66.7%, a misdiagnosis rate of 33.3%, an overall diagnostic accuracy of 90.7%, a positive predictive value of 88.6%, and a negative predictive value of 100.0%. In comparison, scrotal CEUS demonstrated a sensitivity of 96.8%, a miss rate of 3.2%, a specificity of 100.0%, a misdiagnosis rate of 0, an overall diagnostic accuracy of 97.7%, a positive predictive value of 100.0%, and an negative predictive value of 92.3%. The specificity, misdiagnosis rate, and positive predictive value of scrotal CEUS in diagnosing children with TAT were all superior to those of CDUS, and the differences were statistically significant (P=0.004, 0.004, 0.007).

The characteristic CEUS finding in children with TAT is a nodule without contrast agent perfusion between the upper pole of the testis and the head of the epididymis. Scrotal CEUS can significantly improve the diagnostic rate of TAT and reduce the misdiagnosis rate, and can be used as a supplementary examination for diagnosis of TAT.

To explore the clinical characteristics and genetic variation features of children with Majeed syndrome (MS).

One child with MS (patient 1) diagnosed and treated in the First Affiliated Hospital of Xinjiang Medical University in July 2022 was selected as the study subject. A retrospective analysis of her clinical case data was conducted. Relevant research literature on MS patients in domestic and international databases was retrieved, and the clinical features, genetic characteristics, and treatment outcomes of these patients were analyzed. Patient 1 and her guardians were informed consent for the diagnosis and treatment.

① Patient 1 was a 14.7-year-old female with a history of recurrent multi-joint pain for over 12 years, accompanied by growth retardation, short stature (height 129 cm), and occasional fever. Laboratory findings indicated low red blood cell count and hemoglobin (Hb) level, high erythrocyte sedimentation rate, and elevated interleukin (IL)-6 levels. MRI of bilateral sacroiliac joints and knees showed inflammatory changes in the metaphyses of the large joints of the lower limbs. Patient 1 was initially diagnosed as ＂systemic juvenile idiopathic arthritis (JIA) to be ruled out＂, and was treated with glucocorticoids, later adjusted to glucocorticoids + methotrexate / methotrexate + adalimumab, all with poor efficacy. Whole-exome sequencing (WES) of patient 1 revealed a homozygous mutation in the LPIN2 gene [Exon20 c. 2585C>G (p.Pro862Arg)], and confirming the diagnosis of MS. Based on repeated cytokine tests showing high IL-6 levels, the IL-6 inhibitor tocilizumab was administered. After 6 months of follow-up, her joint pain significantly improved, and her height at the last follow-up was 140.0 cm. ② Literature review results: a total of 16 relevant research articles on MS patients were retrieved globally, including patient 1, encompassing 40 MS patients for analysis. Among them, 3 were adults and 37 were children; the ratio of males to females was 23∶13, with 4 cases of unknown gender; all cases were reported from 7 countries, mainly concentrated in Asia. Among the 30 cases reporting parental consanguinity, 23 had consanguineous parents, including 1 case from China (patient 1) and 22 cases (73.3%, 22/30) from other countries. The top four clinical manifestations of 40 patients were congenital dyserythropoietic anemia (CDA) accounted for 97.5% (39/40), chronic recurrent multifocal osteomyelitis (CRMO) accounted for 95.0% (38/40), recurrent fever accounted for 67.5% (27/40), and growth retardation accounted for 62.5% (25/40). At least 24 pathogenic LPIN2 gene mutations were identified. Biologics, such as IL-1 inhibitors, showed good efficacy.

MS is a rare autosomal recessive genetic disorder. Early genetic testing helps confirm the diagnosis of MS, reduce misdiagnosis, and enable timely personalized treatment to mitigate the impact on the child′s growth velocity and skeletal development.

Chinese Expert Consensus on Standardized Surgical Treatment for Ovarian Cancer in Elderly Patients (2024 Edition)(here after referred to as "the Consensus") advocates for optimized surgical decision-making by assessing patients′ functional status and tumor resectability. It emphasizes preoperative management of frailty and comorbidities, intraoperative optimization of anesthesia strategies and surgical collaboration, and postoperative implementation of enhanced recovery after surgery (ERAS) protocols, nutritional support, and complication prevention measures to reduce perioperative risks. The Consensus defines elderly ovarian cancer patients as those aged ≥65 years. By integrating evidence-based recommendations with practical guidance, the Consensus establishes a scientific framework for the standardized management of elderly ovarian cancer patients, offering critical insights to guide therapeutic practices. This article provides a comprehensive interpretation of the Consensus, aiming to promote standardized surgical treatment for elderly patients with ovarian cancer.

To investigate the effect of serum 25-hydroxyvitamin D [25(OH)D] levels on pregnancy outcomes of patients with in vitro fertilization-embryo transfer (IVF-ET) and its correlation with peripheral blood and follicular fluid lymphocyte subsets.

A total of 19 infertile patients who underwent IVF-ET at Reproductive Medicine Center of Yuebei People′s Hospital from January 2023 to June 2024 were selected as the research subjects. Based on the serum 25(OH)D level of infertile patients, 19 infertile patients were divided into abnormal group [n=10, serum 25(OH)D level <30 ng/mL] and normal group [n=9, serum 25(OH)D level ≥30 ng/mL]. The patients in two groups underwent ovulation induction using the long luteal phase protocol. Serum 25(OH)D levels on the day after trigger shot of human chorionic gonadotropin (hCG) and follicular fluid 25(OH)D levels on the day of oocyte retrieval were detected using chemiluminescence immunoassay. Flow cytometry was used to detect peripheral blood lymphocyte subsets on the day after trigger shot and follicular fluid lymphocyte subsets on the day of oocyte retrieval. Independent samples t-test, Mann-Whitney U test, or chi-square test were used to compare IVF-ET pregnant outcomes, serum and follicular fluid 25(OH)D levels, and peripheral blood and follicular fluid lymphocyte subset levels between two groups. Pearson correlation analysis or Spearman rank correlation analysis was used to analyze the correlations among serum and follicular fluid 25(OH)D levels, and peripheral blood and follicular fluid lymphocyte subsets. The procedures followed in this study complied with the regulations of the Medicine Ethics Committee of Yuebei People′s Hospital and were approved by the committee (Approval No. KY-2021-146). There were no statistically significant differences in clinical data such as age, body mass index (BMI), and total gonadotropin (Gn) levels between the two groups (P>0.05).

①There were no statistically significant differences between the two groups in estradiol and progesterone levels on hCG day, number of oocytes retrieved, normal fertilization rate, high-quality embryo rate on day 3 post-fertilization (D3), clinical pregnancy rate, and live birth rate (P>0.05). The endometrial thickness on hCG day was significantly higher in the normal group than those in the abnormal group (t=2.47, P=0.025). ②There were no statistically significant differences in follicular fluid 25(OH)D level, peripheral blood and follicular fluid lymphocyte subset levels between two groups (P>0.05). The serum 25(OH)D level in abnormal group was significantly lower than that in normal group, and the difference was statistically significant (t=-6.50, P<0.001). ③There was no significant correlation between serum 25(OH)D and follicular fluid 25(OH)D, peripheral blood lymphocyte subsets, follicular fluid lymphocyte subsets, and follicular fluid 25(OH)D and follicular fluid lymphocyte subsets (P>0.05). There was a positive correlation between percentage of peripheral blood B cells and percentage of follicular fluid CD3⁺ CD4⁺ T cells (r=0.480, P=0.037), and a negative correlation between percentage of peripheral blood CD3⁺ CD4⁺ T cells and percentage of follicular fluid CD3⁺ CD8⁺ T cells (r=-0.509, P=0.026), and a positive correlation between percentage of peripheral blood CD3⁺ CD4⁺ T cells and ratio of CD3⁺ CD4⁺ T cells to CD3⁺ CD8⁺ T cells (CD4⁺ /CD8⁺ ) in follicular fluid (r_s=0.655, P=0.002). Peripheral blood CD4⁺ /CD8⁺ was positively correlated with follicular fluid CD4⁺ /CD8⁺ (r_s=0.609, P=0.006). And percentage of peripheral blood CD3⁺ CD4⁺ T cells was negatively correlated with percentage of peripheral blood CD3⁺ CD8⁺ T cells (r=-0.658, P=0.002).

This study preliminarily found that serum 25(OH)D level may have a beneficial effect on the endometrium during the superovulation process in IVF-ET patients. No significant correlation was found between 25(OH)D and lymphocyte subsets in IVF-ET patients. There is a certain correlation between peripheral blood lymphocyte subsets and follicular fluid lymphocyte subsets in IVF-ET patients, detection of lymphocyte subsets in peripheral blood can provide certain reference for predicting lymphocyte subsets in follicular fluid.

To explore the role and clinical relevance of folate metabolites and alterations in vascular endothelial growth factor (VEGF) expression in the development and progression of early-onset preeclampsia (EOPE).

A total of 25 pregnant women with EOPE (study group) and 30 healthy full-term pregnant women (control group), who delivered at Xuzhou Maternal and Child Health Hospital from December 2020 to December 2022, were enrolled in this study. The levels of folate metabolites, including vitamin B2 (VitB2), vitamin B6 (VitB6), vitamin B9 (VitB9), S-adenosylmethionine (SAM), S-adenosylhomocysteine (SAH), homocysteine (HCY), and methionine (MET), were measured using ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). Spearman correlation analysis was used to assess the relationship between HCY and MET levels and blood pressure. Receiver operating characteristic (ROC) curves were plotted, and the area under the curve (AUC) was calculated to evaluate the predictive performance of each indicator for EOPE. The optimal cutoff values, sensitivity, and specificity were determined based on the maximum Youden index. This study was approved by the Ethics Committee of Xuzhou Maternal and Child Health Hospital [Approval No. XZFY2025-02-013K-01(J)].

① There were no statistically significant differences in age, gravidity, parity, or BMI between the study and control groups (P>0.05). ② VEGF levels in plasma, plasma-derived exosomes, and placental tissues were significantly lower in the study group than in the control group, with statistically significant differences between groups (P<0.05). ③ Among the folate metabolites, plasma HCY and SAM levels were significantly higher in the study group than in the control group, while plasma MET levels were significantly lower; the differences between groups were statistically significant (P<0.001). However, there were no statistically significant differences in VitB2, VitB6, VitB9, and SAH levels between the two groups (P>0.05). ④ In the study group, plasma HCY levels were positively correlated with both systolic and diastolic blood pressure (r=0.777, P=0.014; r=0.757, P<0.001); plasma MET levels were also positively correlated with systolic and diastolic blood pressure (r=0.692, P=0.039; r=0.498, P=0.019). ⑤ ROC curve analysis showed that plasma HCY and MET levels had good predictive value for the occurrence of EOPE, with AUCs of 0.887 (95%CI: 0.795-0.980, P<0.001) and 0.911 (95%CI: 0.756-1.000, P<0.001), respectively. Based on the maximum Youden index, the optimal cutoff values for HCY and MET were 3 189.50 ng/mL and 12.09 μmol/L, respectively, with sensitivities of 71.4% and 72.7%, and specificities of 71.4% and 64.4%, respectively.

Pregnant women with EOPE exhibit significant folate metabolism disorders and downregulated VEGF expression from multiple sources. Plasma HCY and SAM may serve as potential predictive indicators. Monitoring changes in these markers may aid in the early identification and risk prediction of EOPE.

Hereditary pediatric rare diseases are a class of diseases characterized by low incidence rates but diverse disease types, complex pathogenesis, severe disease conditions, rapid progression, and high disability and mortality rates among affected patients. Children are the primary population affected by hereditary rare diseases, with over 50% of such diseases manifesting during childhood. With the continuous improvement of healthcare standards, the prevention, screening, and diagnosis of rare diseases have become significant challenges in the global medical field in recent years. This paper elucidates the latest research advances in diagnostic technologies related to hereditary pediatric rare diseases, as well as new directions in the screening, prevention, and treatment of these diseases, and the construction of minimal data set (MDS), so as to enhance the understanding of such diseases among clinical physicians and researchers and to provide references for promoting precision medicine.