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.

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 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 investigate the clinical characteristics, genetic features, and follow-up outcomes of children with MECP2 gene mutations.

A retrospective analysis was conducted on the clinical data of 15 children with MECP2 gene mutations diagnosed by molecular testing at the First Affiliated Hospital of Anhui Medical University from October 2017 to March 2025. Data collected included general information, clinical phenotypes, auxiliary examination results, treatment, and follow-up records. Whole-exome sequencing (WES) was performed to detect gene mutations in the children and their parents, with Sanger sequencing for verification and pedigree co-segregation analysis. Pathogenicity grading was performed according to the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines, combined with RTT diagnostic criteria and clinical staging for comprehensive evaluation. This study was approved by the Medical Ethics Committee of the First Affiliated Hospital of Anhui Medical University (Approval No. PJ-2024-12-62), and all legal guardians of the subjects provided written informed consent.

① Among the 15 children, 11 were female and 4 were male. Ten cases met the diagnostic criteria for typical RTT, three were atypical RTT, and two did not meet the RTT diagnostic threshold (one case with pervasive developmental delay and regression, and one with autism spectrum disorder). All typical RTT cases exhibited developmental regression, loss of hand function and language ability, and associated with hand stereotyped movements. Male children showed significant clinical phenotypic heterogeneity. ②At initial diagnosis, six cases had coexisting epilepsy, two had only abnormal electroencephalogram (EEG), and three of the seven with normal EEG developed epilepsy during the course of the disease. At initial diagnosis, 2 cases exhibited abnormal cranial MRI findings. Among the 15 pediatric patients, 5 cases had nonsense mutations, 4 cases had missense mutations, 4 cases had frameshift/splicing site mutations, and 2 cases had copy number variations (CNV). Of these, 12 cases presented with novel mutations, and 3 cases were maternally inherited. According to the ACMG/AMP guidelines, all identified mutations were classified as pathogenic (L) or potentially pathogenic (LP), including a frameshift mutation (p.L383Profs*5) reported for the first time in this study. Among the 13 RTT patients, 10 were in stage Ⅱ at initial diagnosis, and 3 were in stage Ⅰ. Follow-up ranged from 2 to 96 months. Three male patients died, all exhibiting rapid disease progression with severe complications. The disease progression in 9 RTT patients was observed over time, with 1 case showing no progression and 2 cases with stable conditions (non-RTT). Among the 9 cases finally diagnosed with epilepsy, 3 cases were refractory epilepsy with poor prognosis, 4 cases had well-controlled epilepsy, and 2 cases had controlled epilepsy after short-term follow-up.

MECP2 gene mutations are associated with significant clinical phenotypic heterogeneity. Female patients predominantly present with classic RTT phenotypes, while male patients exhibit rapid disease progression and poor prognosis, manifesting as developmental delay or severe fatal encephalopathy. Epilepsy control is correlated with the degree of functional preservation.

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.

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.

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 explore the clinical characteristics and maternal and fetal outcomes of pregnant women with malignant tumors.

A total of 30 455 women with singleton pregnancies who delivered at Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School between January 2020 and December 2024 were enrolled in this study, including 385 cases complicated by malignancy. According to the presence or absence of malignancy, participants were divided into a malignancy group (n=385) and a control group (n=30 070). Propensity score matching (PSM) was performed at a ratio of 1∶4 using age, gravidity, parity, chronic hypertension, pregestational diabetes mellitus, pre-pregnancy body mass index(BMI) ≥ 28 kg/m², and history of assisted reproductive technology as covariates. The malignancy group was further stratified by the timing of cancer diagnosis into a pre-pregnancy subgroup (n=367, malignancy diagnosed before pregnancy) and a pregnancy-associated subgroup (n=18, malignancy diagnosed during pregnancy or the puerperium). The clinical characteristics and maternal–fetal outcomes were retrospectively analyzed for all groups. This study was approved by the Medical Ethics Committee of Drum Tower Hospital, the Affiliated of Hospital Nanjing University Medical School (Approval No. 2025-0873-01). As this was a retrospective single-center cohort study, the requirement for informed consent was waived.

①The incidence of pregnancy complicated by malignancy was 1.26% (385/30 455) and showed a significant increasing trend over the study period (χ²_trend=33.61, P<0.001), with thyroid cancer being the most common type (77.9%, 300/385). After propensity score matching, 384 women were included in the malignancy group and 1 533 in the control group. ②Compared with the control group, women in the malignancy group had a significantly lower gestational age at delivery and a lower incidence of premature rupture of membranes (PROM), but significantly higher rates of intensive care unit (ICU) admission and postpartum blood transfusion (P<0.05); no significant differences were observed in other maternal or neonatal outcomes (P>0.05). ③Within the malignancy group, women diagnosed during pregnancy had a lower gestational age at delivery, higher proportions of pre-delivery hemoglobin levels <110 g/L, higher ICU admission and transfusion rates, and lower neonatal birth weight than those diagnosed before pregnancy (P<0.001). ④Among the 18 women diagnosed with malignancy during pregnancy, six received chemotherapy or surgical treatment during pregnancy, one maternal death occurred, and all neonates survived.

The incidence of pregnancy complicated by malignancy has shown an increasing trend over recent years. Women who were diagnosed before pregnancy and conceived after completing standard treatment with stable disease generally had favorable maternal and neonatal outcomes, whereas those diagnosed during pregnancy tended to have poorer outcomes. Early identification and multidisciplinary standardized management are therefore essential for improving maternal and neonatal prognosis in women with pregnancy complicated by malignancy.

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.

To explore the influencing factors of postoperative infection in patients with gynecological malignant tumors.

A total of 234 patients with gynecological malignancies who underwent surgical treatment at the Department of Gynecology, Chongqing General Hospital, Chongqing University from April 2020 to March 2023 were selected as the study subjects. Among them, 80 cases were cervical cancer, 107 cases were ovarian cancer, and 47 cases were endometrial cancer. Patients were divided into infection group (n=55) and non-infection group (n=179) based on whether they developed postoperative infection. A retrospective analysis was conducted to collect general clinical data and preoperative, surgical, and postoperative data from both groups, and comparative analyses were performed using independent-samples t test and chi-square test. Multivariate unconditional logistic regression analysis was used to analyze the independent influencing factors of postoperative infection in gynecological malignant tumor patients. There were no statistically significant differences in age, body mass index (BMI), or other general clinical data between two groups (P>0.05). The procedures followed in this study were approved by the Medical Ethics Committee of Chongqing General Hospital, Chongqing University (Approval No. KYS2022-012-01).

①Among 234 patients with gynecological malignancies, 55 cases (23.5%) developed postoperative infections. Of the 55 infected patients, 60 strains of pathogens were cultured, with Escherichia coli having the highest incidence (32/55, 58.2%), followed by Pseudomonas aeruginosa (5/55, 9.1%), Enterobacter cloacae subsp. cloacae (4/55, 7.3%), and Klebsiella pneumoniae (4/55, 7.3%); 8 cases (14.5%) had dual bacterial infections. ②Univariate analysis revealed that there were statistically significant differences between two groups in 13 factors, including tumor type, American Society of Anesthesiologists (ASA) classification, operation duration, type of vaginal stump suture, use of drainage tube, drainage tube placement location, duration of indwelling drainage tube, number of urinary catheter insertions, duration of indwelling urinary catheter, ≥1 central venous catheterization, duration of central venous catheterization, types of postoperative use of antibiotics, and duration of antibiotic use (P<0.05). ③Multivariate unconditional logistic regression analysis showed that ASA classification Ⅲ+ Ⅳ and conventional suture for vaginal stump closure were independent risk factors for postoperative infection in patients with gynecological tumors (OR=3.266, 3.632, 95%CI: 1.361-7.645, 1.454-9.072, P=0.008, 0.006). Compared to postoperative cephalosporin antibiotics alone, postoperative use of non-cephalosporin antibiotics was an independent protective factor against postoperative infection in patients with gynecological malignancies (OR=0.298, 95%CI: 0.127-0.702, P=0.006). Compared to postoperative antibiotic use for 1-3 days, postoperative antibiotic use for 4-7 days and ≥8 days were also independent protective factors against postoperative infection in patients with gynecological malignancies (OR=0.103, 0.073, 95%CI: 0.031-0.340, 0.019-0.277, both P<0.001).

ASA classification, vaginal suture type, type of postoperative antibiotics used, and duration of postoperative antibiotic use are all independent influencing factors for postoperative infection in patients with gynecological malignancies. Postoperative nutritional intervention, intraoperative antimicrobial suture utilization, proper postoperative use of antibiotics and standardized postoperative antibiotic protocols may effectively reduce the risk of postoperative infection in patients with gynecological malignancies.

Peripheral perfusion index (PPI) is a new generation of measurement parameter reflecting peripheral tissue perfusion. PPI can continuously and in real time reflect peripheral tissue perfusion in neonates, offering advantages such as being non-invasive, sensitive, accurate, and convenient. In recent years, the application of PPI as a tool for evaluating hemodynamic status has become increasingly widespread in neonatology. In clinical practice, PPI is primarily used for screening neonatal congenital heart disease (CHD), early diagnosis of patent ductus arteriosus (PDA) in preterm infants, early prediction of neonatal diseases, assessment of neonatal disease severity, and prediction of adverse outcomes in neonates. Additionally, PPI can be applied to guide the treatment of neonatal shock, evaluate the therapeutic efficacy of neonatal anemia, and instruct ventilator weaning for critically ill neonates. The author intends to elaborate on the latest research status regarding the concept and measurement principle of PPI, the normal reference values of PPI in neonates and its influencing factors, and clinical application of PPI in neonatology.

To evaluate the impact of different luteal phase support (LPS) regimens on pregnancy outcomes among women of advanced and non-advanced maternal age undergoing modified natural cycle (mNC) or letrozole-stimulated (LC) frozen-thawed embryo transfer (FET).

A total of 2 400 patients who underwent mNC-FET (n=1 260) or LC-FET (n=1 140) between January 2018 and December 2021 at the Reproductive Medicine Center of the Obstetrics and Gynecology Hospital, Nanjing Medical University, were retrospectively analyzed. According to the route of LPS administration, mNC-FET patients were divided into mNC-FET-1 group (n=772, intramuscular progesterone) and mNC-FET-2 group (n=488, vaginal progesterone). Similarly, LC-FET patients were classified into LC-FET-1 group (n=860, intramuscular progesterone) and LC-FET-2 group (n=280, vaginal progesterone). Propensity score matching (PSM) was used to balance baseline characteristics across groups. Patients were further stratified by age (≥35 vs <35 years old), and matched based on LPS regimen. The mNC-FET subgroup included: group mNC-FET-1 subgroup 1 (n=364, <35 years old, intramuscular), group mNC-FET-1 subgroup 2 (n=364, <35 years old, vaginal), group mNC-FET-2 subgroup 1 (n=78, ≥35 years old, intramuscular), and group mNC-FET-2 subgroup 2 (n=84, ≥35 years old, vaginal). The LC-FET subgroup included: group LC-FET-1 subgroup 1 (n=185, <35 years old, intramuscular), group LC-FET-1 subgroup 2 (n=177, <35 years, vaginal), group LC-FET-2 subgroup 1 (n=39, ≥35 years old, intramuscular), and group LC-FET-2 subgroup 2 (n=77, ≥35 years old, vaginal).

①After PSM, baseline clinical characteristics, including age, body mass index (BMI), infertility type, duration of infertility, basal hormone levels [basal estradiol (bE2), basal follicle-stimulating hormone (bFSH), basal luteinizing hormone (bLH), anti-Müllerian hormone (AMH)], history of intrauterine surgery, number of previous embryo transfer cycles, endometrial thickness on the day of progesterone initiation, fertilization method, type and number of embryos transferred, and number of high-quality embryos, were comparable between mNC-FET-1 and mNC-FET-2 groups, and also between subgroups mNC-FET-1 subgroup 1 vs mNC-FET-1 subgroup 2 and mNC-FET-2 subgroup 1 vs mNC-FET-2 subgroup 2 (all P>0.05). ② Similarly, no significant differences in the same baseline characteristics were found between LC-FET-1 and LC-FET-2 groups, or between subgroups LC-FET-1 subgroup 1 vs LC-FET-1 subgroup 2 and LC-FET-2 subgroup 1 vs LC-FET-2 subgroup 2 (all P>0.05). ③ Among mNC-FET patients aged ≥35 years, the intramuscular group (mNC-FET-2 subgroup 1) had significantly higher implantation (42.7% vs 28.7%), clinical pregnancy (56.4% vs 39.3%), and live birth rates (48.7% vs 32.1%) compared to the vaginal group (mNC-FET-2 subgroup 2) (all P<0.05). ④ Among LC-FET patients, no significant differences were observed in implantation rate, clinical pregnancy rate, miscarriage rate (total, early, or late), or live birth rate between the LC-FET-1 and LC-FET-2 groups or among the corresponding age-stratified subgroups (all P>0.05).

Intramuscular progesterone administration for luteal phase support may result in improved pregnancy outcomes in advanced-age women undergoing mNC-FET. In contrast, among women undergoing LC-FET, the efficacy of different LPS regimens appears comparable, regardless of age.

To analyze the clinical features of Chlamydia pneumoniae pneumonia in children (CPP).

A total of 174 children with CPP admitted to the Suzhou University Affiliated Children′s Hospital from July 2023 to April 2025 were selected as research subjects. Based on the type of infection, they were divided into two groups, group A (n=96) and group B (n=78). The group B was further categorized into three subgroups according to the types of pathogens: subgroup B1 (n=40, mixed viral/mycoplasma pneumoniae infections), subgroup B2 (n=25, mixed bacterial infections), and subgroup B3 (n=13, mixed viral/mycoplasma pneumoniae and bacterial infections). The clinical manifestations, laboratory test results, and imaging characteristics were compared retrospectively. The study followed the standards set by the Medical Ethics Committee of the Suzhou University Affiliated Children′s Hospital and got the committee′s approval (Approval No. 2025CS134), and informed consent from the children′s guardians were obtained.

①Among 174 children with CPP, 96 cases (55.2%) had isolated CP infection, while 78 cases (44.8%) had mixed infections; the majority were male (64.9%, 113/174) and over 6 years old (90.8%, 158/174), averaging 14 days of illness. All children had cough symptoms, 76 cases (43.7%) had fever, and 138 cases (79.3%) had sputum production. Among children with mixed infections, rhinovirus (HRV) had the highest detection rate (27/78, 34.6%), followed by Staphylococcus aureus (12/78, 15.4%). ②The incidence of wheezing in group A was significantly lower than that in subgroup B1, with the difference reaching statistical significance (P<0.05). In group A, the incidence of moderate fever was significantly higher, whereas the incidence of high fever was significantly lower than that in subgroup B2, and both differences were statistically significant (P<0.05). In addition, the incidence of vomiting in group A was significantly lower than that in subgroup B3, and the difference was also statistically significant (P<0.05). ③Comparisons of white blood cell count (WBC), neutrophil percentage (NEUT%), hs-CRP, alpha-hydroxybutyrate dehydrogenase(α-HBDH), alanine aminotransferase (ALT), and creatine kinase-MB isoenzyme (CK-MB) levels between group A and groups B1, B2, and B3 showed no significant differences (P>0.05). ④Imaging examination results showed that unilateral lung involvement was more common (71.8%, 125/174), with the right lower lobe being the most commonly affected area (19.5%, 34/174), and lesions involving ≥2 lung lobes were observed in 74 cases (42.5%).

The incidence of mixed infections in children with CPP is high. The younger they are, the more likely they are to have mixed infections, which come with more severe symptoms. For children with CPP, we should actively test for pathogens to quickly identify mixed infections and offer targeted treatments.

To investigate the incidence and gene mutation characteristics of neonatal Citrin deficiency (CD) in Hainan Province.

A total of 74 916 dried blood spot samples collected from neonatal heel pricks were enrolled as research subjects, which were obtained from newborns delivered from February to November, 2024 in all midwifery and medical institutions across Hainan Province. Tandem mass spectrometry (MS/MS) was used to detect the concentration of citrulline in dried blood spots, an index of CD screening. For newborns born from February to April, citrulline concentration ≥ 28.99 μmol/L was taken as the upper limit of initial cut-off value of initial screening newborn being called back for re-screening, which was established based on the NeoBase™ 2 kit. A upper limit of new cut-off value (initial screening newborn with citrulline concentration ≥27.00 μmol/L were recalled for re-screening) was further calculated via the percentile method using the corresponding concentration data, and this new value served as the criterion for identifying suspected CD cases in this research. For suspected CD infants whose neonatal heel prick dried blood spot samples showed citrulline concentration ≥27.00 μmol/L in both initial screening and re-screening from February to November 2024, whole-exome sequencing (WES) was performed to detect gene mutations. This study obtained approval from the Medical Ethics Committee of Hainan Women and Children′s Medical Center (Approval No. HNWCMC Ethics Review 2024-55), and informed consent forms for free inherited metabolic disease screening were signed by the guardians of all enrolled infants.

A total of 74 916 neonatal heel prick dried blood spot samples underwent screening from February to November 2024. The new citrulline concentration normal reference value for neonatal CD screening was 4.90-27.00 μmol/L, which was calculated using data of screening results of citrulline concentration from 29 676 samples collected from February to April. Five CD cases were confirmed, including 2 missed cases diagnosed post-admission for jaundice, and 2 SLC25A13 gene mutation carriers were detected. The CD patients carried two suspected pathogenicity or pathogenicity (LP/P) mutations in the SLC25A13 gene, whereas the carriers had only one such mutation. The CD incidence rate of newborns in Hainan province during February to November in 2024 was 6.7×10^-5 (5/74 916). Three SLC25A13 gene mutations (c.852_855del, c. 1751-5_1751-4ins, c. 615+ 5G>A) were detected, with c. 852_855del being the hot-spot mutation in this study.

The study revealed a relatively high incidence of CD among newborns in Hainan province, with c. 852_855del being the most prevalent SLC25A13 gene mutation. Establishing a local normal reference range for citrulline concentration in neonatal CD screening can reduce the rate of missed diagnosis of CD infants.

To investigate the therapeutic efficacy and safety of octreotide combined with sirolimus in children with congenital hyperinsulinemia (CHI) unresponsive to diazoxide treatment.

From August 2021 to August 2024, a total of 122 children with CHI unresponsive to diazoxide treatment who were hospitalized in the Children′s Hospital of Soochow University were selected as the study subjects. Using a retrospective analysis method, they were divided into study group (n=40, treated with octreotide combined with sirolimus), control group 1 (n=41, treated with octreotide), and control group 2 (n=41, treated with sirolimus) according to treatment methods. Chi-square test was used for overall and pairwise comparisons of the treatment effective rate, and the total incidence rate of other adverse reactions and complications among the three groups. One-way ANOVA and LSD-t test, and paired t-test were used for overall and pairwise comparisons among the three groups, as well as for intragroup comparisons, regarding the levels of children′s serum fasting blood glucose (FBG), fasting insulin (FINS), growth hormone (GH), serum creatinine (Scr), blood urea nitrogen (BUN), alanine aminotransferase (ALT), and aspartate aminotransferase (AST) before treatment and after 3 months of treatment. This study was approved by the Ethics Committee of the Children′s Hospital of Soochow University (Approval No. 2025CS163). Informed consent was obtained, and the clinical research informed consent forms were signed by the guardians of all children.

① There were no significant differences among three groups of CHI children in general clinical data (P>0.05), such as the proportion of male children and age of admission, etc.. ② The treatment effective rates in study group, control group 1, and control group 2 were 92.5% (37/40), 68.3% (28/41), and 75.6% (31/41), respectively. The treatment effective rate in study group was higher than that in control group 1 and control group 2, respectively, and the differences were statistically significant (χ²=7.485, P=0.006; χ²=4.287, P=0.038). There was no significant difference between control group 1 and control group 2 in treatment effective rate (χ²=0.544, P=0.461). ③ The intergroup comparison results after 3 months of treatment showed that the serum FBG level in study group was higher than that in control group 1 and control group 2, respectively, and the serum FINS level was lower than that in control group 1 and control group 2, respectively, and the differences were statistically significant (P<0.05). Intragroup comparisons results showed that the serum FBG levels in each group were higher than that before treatment, respectively, and the serum FINS levels were lower than that before treatment, respectively, and the differences were statistically significant (P<0.05). ④ No significant differences were observed in intergroup or intragroup comparisons of serum GH, Scr, BUN, ALT, and AST levels before and after 3 months of treatment among three groups of CHI children (P>0.05), as well as intergroup comparison of the total incidence rates of other adverse reactions and complications (P>0.05).

Octreotide combined with sirolimus can effectively improve the therapeutic efficacy and promote the recovery of blood glucose and insulin levels in children with CHI unresponsive to diazoxide treatment. This regimen is safe for use and has no adverse effects on the children′s GH level, and liver or kidney function in the short term.

To explore the genetic etiology, clinical characteristics and treatment options of children with megaconial congenital muscular dystrophy (CMD) caused by CHKB gene mutation.

A child (the proband) with megaconial CMD caused by CHKB gene mutation, who was hospitalized twice in June 2014 and August 2021 at the Children′s Medical Center of Sun Yat-sen Memorial Hospital, Sun Yat-sen University was selected as the study subject. A retrospective analysis was conducted on the medical history, clinical manifestations, physical examinations, laboratory tests, muscle biopsy pathology results, treatment, and follow-up outcomes of the proband. During the second hospitalization, whole-exome sequencing (WES) was performed on the proband and her parents, with Sanger sequencing used for validation. Literature on patients with megaconial CMD caused by CHKB gene mutation was retrieved from the CNKI, Wanfang Data Knowledge Service Platform, and PubMed databases using the Chinese keyword " megaconial congenital muscular dystrophy" and English keywords " CHKB gene mutation" " myasthenic" and " megaconial congenital muscular dystrophy". The retrieval time was set from the inception of each database to December 31, 2024. The study protocol was approved by the Medical Ethics Committee of Sun Yat-sen Memorial Hospital, Sun Yat-sen University (Approval No. SYSKY-2024-728-01).

①The proband was female, aged 4 years 9 months and 11 years 11 months during her first and second hospitalizations, respectively. Her parents were consanguineous and there were no perinatal complications. The disease began in infancy with initial manifestations of hypotonia, delayed language and motor development. She could walk independently at 1 year 8 months but had limb weakness, a waddling gait, was prone to falls, and developed lower limb muscle atrophy after age 5. She experienced two epileptic seizures, and electroencephalogram showed bilateral multiple spike waves. Her physical development lagged behind peers. Her serum creatine kinase (CK) remained abnormally elevated after birth, ranging from 1 118 to 1 884 U/L (normal reference value is 40 to 200 U/L). Multiple cardiac color Doppler ultrasounds showed no significant abnormalities. During the first hospitalized in our hospital, Gesell Developmental Scale assessments in our hospital indicated adaptive behavior 53 points, fine motor 51 points, language 51 points, personal-social 54 points, and gross motor 54 points, suggesting moderate intellectual disability. Muscle biopsy (light microscopy and immunohistochemistry) pathology indicated " myopathic damage consistent with muscular dystrophy" ; electron microscopy was consistent with myogenic ultrastructural damage. During the second hospitalized in our hospital, WES revealed a homozygous frameshift mutation in the CHKB gene on chromosome 22: c. 598delC(p.Gln200Argfs*11) (NM_005198.5), inherited from both parents (each carrying a heterozygous mutation). And based on clinical presentation, auxiliary examinations, and genetic testing, the proband was finally diagnosed with megaconial CMD caused by CHKB gene mutation. After treatment with levocarnitine, fructose sodium diphosphate, inosine tablets, and vitamins B2, B6, and B12, her muscle weakness improved compared with before treatment. Follow-up until March 2022 (age 12 years 6 months) showed that the proband died due to " fulminant myocarditis and cardiogenic shock" despite emergency treatment at another hospital. ② The results of the literature review showed that 50 patients with megaconial CMD (excluding the proband) were included in the study. The results of a comprehensive analysis of genetic etiology and clinical characteristics revealed that the age of onset for megaconial CMD ranged from 2 months to 40 years, and 45 cases were diagnosed in childhood, all with CHKB gene mutations. Main clinical manifestations: muscle weakness in 50 cases (100.0%), motor developmental delay in 50 cases (100.0%), intellectual disability in 48 cases (96.0%), and speech delay in 45 cases (90.0%).

Children with megaconial CMD caused by CHKB gene mutation are rare. The main clinical manifestations are muscle weakness, motor developmental delay, intellectual disability. Muscle tissue biopsy and WES sequencing are effective methods for the diagnosis of the disease. Treatment with levocarnitine fructose sodium diphosphate, inosine tablets, and multivitamins for the proband can improve the muscle weakness symptoms, but cardiac related complications must be prevented and treated.

Wertheim proposed the extensive total hysterectomy (ETH) in 1895, and in 1930, Meigs further refined this approach by proposing pelvic lymphadenectomy. At that time, due to the absence of screening approach and effective adjuvant therapies such as radiotherapy, surgeons favored expanding the surgical extent; however, this approach was associated with a high incidence of complications. In the early 21st century, several retrospective studies demonstrated that parametrial metastasis rates were relatively low in low-risk early-stage cervical cancer, providing a theoretical foundation for fertility-sparing surgery (FSS) approaches. The ConCerv study, initiated in 2010, and the SHAPE study, launched in 2012, further investigated the feasibility and safety of FSS for low-risk early-stage cervical cancer. While the ConCerv study suggested that FSS might be safe and feasible, this study lacked a control group. Moreover, the SHAPE study, through a large-scale randomized controlled trial, confirmed that extrafascial total hysterectomy did not increase the pelvic recurrence rate in low-risk early-stage cervical cancer and offered advantages over radical surgery in terms of complications and quality of life. Nevertheless, directly translating these findings into clinical practice remains premature. Accurately identifying low-risk cervical cancer patients preoperatively poses challenges, such as inaccuracies in assessing tumor size and depth of stromal invasion. Additionally, whether lymphovascular space invasion (LVSI) constitutes a high-risk factor remains unclear. It is recommended to perform cervical conization for pathological evaluation prior to FSS and utilize MRI for auxiliary assessment. Although both studies validated the feasibility and safety of FSS for low-risk early-stage cervical cancer, caution is warranted when considering changing traditional clinical practices. For fertility-sparing patients, FSS may offer benefits; however, for non-fertility-sparing patients, given the relatively late average age of onset of cervical cancer in China, the practical significance of FSS may be limited. Further clinical research is anticipated to address the limitations of existing studies and elucidate the role of FSS more clearly.

Pulmonary complications subsequent to hematopoietic stem cell transplantation (HSCT) constitute a significant factor contributing to transplant-related morbidity and mortality among pediatric patients. Therefore, the early and accurate identification of pulmonary abnormalities is of paramount importance for improving prognosis of these post-HSCT children. As a non-invasive assessment tool, pulmonary function test (PFT) plays a pivotal role in monitoring pulmonary health, providing early warning for long-term complications such as pulmonary graft-versus-host disease (GVHD), and evaluating therapeutic responses in HSCT recipients. However, compared to the adult population, research on the longitudinal trajectory of pulmonary function in post-HSCT children is relatively limited, and the existing findings are inconsistent. Furthermore, the limitations of traditional PFT, the high demand for patient cooperation, have become increasingly apparent, which has spurred researchers to explore novel auxiliary diagnostic techniques including multiple-breath washout (MBW) test, forced oscillation technique, and parametric response mapping (PRM), to achieve more sensitive detection of early-stage lung injury. This review aims to systematically summarize the characteristics of pulmonary function changes in post-HSCT children, discuss the clinical utility and challenges of PFT in monitoring, and introduce recent advances in novel assessment methodologies, so as to provide a reference for clinicians to optimize pulmonary complications management strategies for pediatric HSCT recipients.

To investigate the risk factors of plastic bronchitis (PB) in children with Mycoplasma pneumoniae pneumonia (MPP) and establish a nomogram prediction model.

A total of 233 cases of MPP children who underwent flexible bronchoscopy at the Affiliated Hospital of Qingdao University between September 2021 and February 2022 were enrolled into this study. Among them, 88 cases developed PB and 145 cases did not. Patients admitted from September to December 2021 were assigned to the training set group (n=172), and those admitted from January to February 2022 were assigned to the validation set group (n=61). General clinical data, clinical manifestations, laboratory results, and imaging findings were collected by retrospective method. Univariate and multivariate unconditional logistic regression analyses were performed to identify independent risk factors for PB in MPP children. A nomogram model for predicting PB risk in MPP children was constructed using R-4.3.0-win software based on the identified risk factors. The discriminative ability, calibration, goodness-of-fit, and clinical utility of the nomogram model were evaluated using the receiver operating characteristic (ROC) curve and area under the curve (AUC), calibration curves, Hosmer-Lemeshow test, and decision curve analysis (DCA), respectively. There were no statistically significant differences in general clinical data, such as age and gender ratio between two groups (P>0.05). This study was approved by the Ethics Committee of the Affiliated Hospital of Qingdao University (Approval No. QYFY WZLL 28344).

① In the training set group, univariate logistic regression analysis showed that age, duration of fever, decreased breath sounds, lung consolidation, pleural effusion, atelectasis, platelet count (PLT), C-reactive protein (CRP) level, aspartate aminotransferase (AST) level, lactate dehydrogenase (LDH) level, D-dimer level, and prothrombin time (PT) were potential risk factors for PB in MPP children (all P<0.05). Multivariate logistic regression analysis revealed that older age (OR=1.369, 95%CI: 1.110-1.688, P=0.003), pulmonary consolidation on imaging (OR=4.429, 95%CI: 2.002-9.795, P<0.001), elevated CRP level (OR=1.037, 95%CI: 1.003-1.072, P=0.035), elevated LDH level (OR=1.006, 95%CI: 1.000-1.012, P=0.030), and D-dimer ≥500 ng/mL (OR=3.184, 95%CI: 1.360-7.455, P=0.008) were independent risk factors for PB in MPP children. ② A nomogram model was constructed based on these five independent risk factors. The Hosmer-Lemeshow test showed P=0.456 in the training set group and P=0.309 in the validation set group, indicating good model fit. ROC curve analysis demonstrated that the nomogram model had a sensitivity of 83.1%, specificity of 78.8%, and AUC of 0.854 (95%CI: 0.793-0.915) in predicting the risk of PB in MPP children in the training set group, and a sensitivity of 93.1%, specificity of 65.6%, and AUC of 0.837 (95%CI: 0.739-0.936) in the validation set group. Calibration curves showed good agreement between predicted and actual PB risks in both the training and validation set groups. DCA curves confirmed the favorable clinical utility of the nomogram model.

Older age, pulmonary consolidation, elevated CRP level, elevated LDH level, and D-dimer ≥500 ng/mL are independent risk factors for PB in MPP children. The nomogram model constructed based on these factors can accurately predict the risk of PB in MPP children.

To investigate the early growth and development pattern of small for gestational age (SGA) infants born to mothers with gestational diabetes mellitus (GDM).

A total of 358 pregnant women and their live singleton SGA infants delivered at Wuhan Children′s Hospital from 2012 to 2014 were selected for this study. Based on whether the mothers were diagnosed with GDM before 32 weeks of gestation, the subjects were divided into GDM group (n=44, GDM mothers and their SGA infants) and non-GDM group (n=314, mothers without GDM and their SGA infants). A prospective, birth cohort study was designed, the regular follow-ups were conducted on SGA infants of two groups and to monitor their physical development indicators. The weight for age Z-score (WAZ) and length for age Z-score (LAZ) at age of 0 (birth), 6, 12, 18, and 24 months of SGA infants, as well as the velocity of weight increments Z-score (V-WIZ) and length of increments Z-score (V-LIZ) every 6 months after birth (defined in this study as age brackets 1, 2, 3, and 4, corresponding to 0-6 months, 6-12 months, 12-18 months, and 18-24 months of age, respectively) of SGA infants, were compared between two groups and stratified by gender by Mann-Whitney U test. This study was approved by the Medical Ethics Committee of Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science and Technology (Approval No. 2010R009-F04). Informed consent forms was obtained from all participating pregnant women.

① The gestational age at delivery of pregnant women in GDM group was lower, and the incidence of hypertensive disorders of pregnancy (HDP) was higher than those in non-GDM group, and the differences were statistically significant (P<0.05). ② The V-LIZ for SGA infants at age bracket 1 in GDM group was 0.31 (-0.36, 0.92), which was lower than that of 0.80 (0.08, 1.53) in non-GDM group; meanwhile, the V-WIZ and V-LIZ for female SGA infants at age bracket 1 in GDM group were 0.90 (0.25, 1.94) and 0.01 (-0.61, 0.92), respectively, which were higher and lower than those of 0.63 (-0.18, 1.34) and 0.92 (0.01, 1.53), respectively in non-GDM group, and above differences were statistically significant (Z=-2.28, -2.27, -2.69; P=0.022, 0.028, 0.007). ③ A comparison of WAZ and LAZ curves for SGA infants in GDM group at various months of age (0, 6, 12, 18, 24 months) showed that WAZ increased rapidly before 6 months of age and LAZ increased rapidly before 12 months of age for both male and female SGA infants. Furthermore, the LAZ curve of aged 0-6 months for female SGA infants was flatter compared to male SGA infants. ④ There were no significant differences between male and female SGA infants in GDM group in V-WIZ and V-LIZ of the four age brackets, respectively (P>0.05).

The early growth patterns of SGA infants born to GDM mothers are different from those in the non-GDM group. There is a significant gender difference, which is that female SGA infants present a pattern of faster weight gain but lagging length growth before 6 months of age.