Intraventricular hemorrhage（IVH）in preterm infants is a significant complication leading to mortality and severe neurological disabilities，particularly in preterm infants with a gestational age＜32 weeks.In recent years，the number of preterm infants receiving medical treatment in China has significantly increased，and the survival rates of very preterm infants（gestational age ≥28-31 weeks）/extremely preterm infants （gestational age＜28 weeks）have greatly improved.However，the incidence of IVH in extremely preterm infants remains high at 48%，with the occurrence of severe IVH showing an annual upward trend，markedly higher than that in developed countries，garnering significant attention.Currently，there is no expert consensus or guideline for the prevention of IVH in preterm infants within China.Therefore，the Neonatologist Branch of the Chinese Medical Doctor Association and the Neonatologist Branch of the Beijing Medical Doctor Association have organized experts to develop ExpertConsensusonPreventionof IntraventricularHemorrhageinPretermInfants（2025）（hereinafter referred to as ThisConsensus）.These initiatives in ThisConsensus is based on reference to relevant research progress and clinical guidelines both domestically and internationally，aiming to further standardize the prevention and clinical management of IVH in preterm infants，reduce the incidence of IVH，and improve both shortterm and long-term neurological development outcomes for preterm infants.

Objective

To explore the detection performance of comprehensive analysis of fragile X syrdrome （CAFXS）based on long fragment PCR （LR-PCR）combined with long read sequencing（LRS）in the detection of fragile X mental retardation 1（FMR1）gene.

Methods

A total of 33 participants with FXS/premutation carriers and their family members who underwent expanded carrier screening or visited the genetic counseling clinic at Nanjing Women and Children's Healthcare Hospital from July 2021 to July 2023 were selected into this study.CAFXS was adopted to detect CGG repeats，AGG insertions of FMR1 gene，and single nucleotide variation （SNV），insertions/deletions（InDels），microdeletions within exon 1 of FMR1 gene.At the same time，trinucleotide repeat primer PCR （TP-PCR）combined with capillary electrophoresis（CE）was used to detect the CGG repeats，and were compared the detection results with CAFXS were compared.This study was approved by the Ethics Committee of Women and Children's Healthcare Hospital （2024KY-152）.Informed consents were obtained from participants or their guardians.

Results

①The results of CAFXS and TP-PCR/CE for detecting FMR1 genotype were consistent.Among the 33 participants，there were 10 cases of full mutation，9 cases of pre-mutation，7 cases of intermediate type and 7 cases of normal type.②Among the 33 participants，CAFXS detected 73 AGG insertions in 33 subjects，involving 36 AGG insertion patterns，among which the highest frequency was 9A9A9（24.6%）.③Among the 33 participants，CAFXS detected 9 cases （27.3%）of CGG repeats mosaicism，including pre-mutation/full-mutation mosaicism（6 cases），full-mutation mosaicism（2 cases）and normal mosaicism（1 case）.④No rare SNV，InDel and microdeletions within exon 1 of FMR1 gene were detected in 33 subjects.

Conclusions

CAFXS could analyze FMR1 gene comprehensively and accurately，and could provide more genetic information for clinical practice.

Hypoxic-ischemic encephalopathy（HIE）is a condition in newborns caused by insufficient cerebral perfusion due to prenatal or intrapartum hypoxia and asphyxia，resulting in brain injury and a series of neurological symptoms in clinical practice.HIE affects the quality of life of newborns and endangers their health，can lead to neonatal mortality，and is one of the main causes of long-term sequelae.HIE is related to multiple factors，and hypoxia is the main cause of HIE in newborns.Amplitude-integrated electroencephalography （aEEG）and head MRI examination are important diagnostic tools for HIE.The degree of HIE can be referred to the modified Sarnat standard.Mild hypothermia therapy is the main treatment method currently recognized for HIE，and some drug therapy and rare gas therapy may become new attempts for treating HIE in newborns.In this paper，the author intends to present the latest research findings on the etiology，diagnosis，degree classification，and treatment of HIE in newborns.

Tonsillectomy is one of the most common surgical procedures performed in children，and postoperative pain significantly impacts their recovery.Coblation and intracapsular tonsillotomy are emerging as superior techniques for tonsillectomy，offering advantages such as reducing postoperative pain，fewer complications，and faster recovery.A systematic review based on a large number of clinical studies has confirmed that regular oral administration of ibuprofen and acetaminophen，along with intraoperative dexamethasone，are safe and effective for the treatment of postoperative pain after tonsillectomy.The use of opioids during tonsillectomy in children is effective for immediate postoperative analgesia，but due to its potential risk of respiratory depression，its routine use in children is not recommended.Additionally，alternative therapies such as cold therapy，honey and acupuncture as non-drug components of multimodal analgesia can relieve pain in children after tonsillectomy.Dexmedetomidine and ketamine during tonsillectomy has a certain effect in reducing acute agitation，opioid requirements and auxiliary analgesia in children undergoing tonsillectomy.However，there are still few research data so far，and the research quality is low.Large-sample，multicenter randomized clinical trials are needed for further research and confirmation.Ultrasound-guided glossopharyngeal nerve block（GNB）is effective in treating pain in children after tonsillectomy and is expected to become a new strategy for postoperative analgesia in children after tonsillectomy.The author intends to explain the latest research status of the surgical methods of tonsillectomy and mechanisms of postoperative pain in children after tonsillectomy，as well as the treatment strategies for pain in children after tonsillectomy，aiming to provide guidance for the clinical treatment of pain in such children.

Objective

To analyze the predictive value of endocervical curettage（ECC）for postoperative pathological upgrading to cervical cancer in patients with biopsy result of cervical intraepithelial neoplasia grade 2 or more severe diagnoses （CIN2+）.

Methods

A total of 66 pathological upgrading patients and 66 no-upgrading patients who attended the Department of Gynecology of West China Second University Hospital，Sichuan University from January 1，2019 to October 1，2023 were selected into this study，and were enrolled into study group and control troup，respectively.A retrospective analysis of the following data was done for the two group.①General clinical data：including age，gravidity，parity，menopausal status，abnormal vaginal bleeding，history of cervical lesions，transformation zone.②Clinical examination and pathological data：including cytology，human papilloma virus（HPV）test，pathological results （including cervical biopsy and ECC results），whether the lesion involved gland or not，and tumor characteristics of patients with pathologic upgrading to cervical cancer in the 2 groups of patients.The Kappa test was used to compare the results of cervical biopsy and ECC.Receiver operater curve（ROC）curve and area under curve（AUC）were plotted to calculate the predictive value of ECC for pathologic upgrading to cervical cancer.The procedures followed in this study complied with the ethical standards set by the Ethics Committee of West China Second University Hospital，Sichuan University（No.2024-474）and met the conditions for exemption of informed consent in clinical research.

Results

①The comparison of age，menopausal rate，cervical cytology results，the proportion of patients with a history of cervical precancerous lesions，and ECC pathological results between the two groups showed statistically significant differences （P＜0.05）.②Among the 66 patients in study group，the largest proportion was International Federation of Gynecology and Obstetrics （FIGO）stageⅠ，at 93.9%（62/66）.③The results of multivariate unconditional logistic regression analysis of the risk factors for CIN2+histological progression were presented as follow.Age （OR=1.111，95% CI：1.029-1.200，P=0.007）and ECC pathological result of CIN3（OR=8.587，95% CI：2.710-27.207，P＜0.001）were independent risk factors for pathological upgrading to cervical cancer post-surgery.④The number of patients with the same results between ECC and cervical biopsy was 59.The result of Kappa consistency test showed that the results of cervical biopsy were in poor agreement with the results of ECC （Kappa=0.101，P=0.062）.⑤ROC curve analysis showed that the AUC value of ECC for prediction of CIN2+histological progression was 0.761（95% CI：0.678-0.845），with a cut-off value of 2.5 and a positive predictive value of 75.4%.

Conclusions

ECC has a good predictive value for postoperative pathological upgrading to cervical cancer in patients with colposcopic pathological biopsy results of CIN2+，and should be used as a supplement to cervical biopsy in patients with suspected high-grade lesions.

Objective

To investigate the clinical characteristics and treatment strategies of renal abscesses in children.

Methods

A total of 5 cases of pediatric renal abscess children（child 1-5）admitted to the Department of Pediatrics，General Hospital of Ningxia Medical University from January 2022 to December 2024 were included into study.A retrospective analysis was conducted on general information，clinical manifestations，laboratory tests，imaging findings，treatment plans，and outpatient follow-up results of these 5 children.This study was approved by the Ethics Committee of the General Hospital of Ningxia Medical University （Ethics Approval No.KYLL-2025-0152），and informed consents were obtained from the guardians of the children for their diagnosis and treatment.

Results

①Among the 5 children，3 cases were male and 2 cases were female，with ages ranging from 3 to 13 years.The clinical manifestations of the 5 children were primarily characterized by recurrent fever，with some children presenting with abdominal pain，vomiting，and urinary tract irritation signs.One child exhibited tenderness on renal percussion，while no other positive physical signs were observed.②Before treatment，all 5 children had elevated peripheral blood white blood cell count（WBC），C-reactive protein （CRP），and erythrocyte sedimentation rate （ESR）.Two children had increased urinary leukocytes，and one child had a positive urine culture，with the pathogen identified as Escherichia coli.③After admission，all 5 children underwent color Doppler ultrasound of the urinary system，enhanced CT of the kidneys，or MRI.Among them，left renal abscess was found in 3 children，and right renal abscess in 2 children.Upper pole abscess was present in 3 children，and lower pole abscess in 2 children.Three children had renal abscess diameters less than 3 mm，while 2 children had diameters greater than 3 mm.Three children exhibited hydronephrosis.Color Doppler ultrasound of the urinary system showed hypoechoic masses within the renal parenchyma with unclear borders，with diameters ranging from 1.7 to 5.0 cm.MRI of the kidneys revealed patchy abnormal signals within the renal parenchyma，with high signal intensity on diffusion-weighted imaging（DWI）and unclear borders；enhanced scanning showed heterogeneous enhancement of the lesions.④All children received conservative treatment.Initial treatment involved intravenous infusion of broadspectrum antibiotics （piperacillin-tazobactam，meropenem，or ertapenem）for anti-infection therapy.However，the therapeutic effect was unsatisfactory，leading to an upgrade in antibiotic treatment.⑤After discharge，all children continued oral antibiotic therapy for more than 14 days.Follow-up within 2 weeks after discharge showed complete resolution of renal abscesses without renal scar formation.No recurrence was observed during the outpatient follow-up period after discontinuation of medication.

Conclusions

The use of broad-spectrum antibiotics for the treatment of pediatric renal abscesses has proven to be effective and can be recommended as the first-line therapeutic approach.

Objective

To explore the influence of cervical polypectomy during pregnancy on the pregnancy outcome of pregnant women，and the influencing factors of pregnancy outcome of pregnant women with cervical polyps.

Methods

A total of 97 pregnant women with cervical polyps who underwent regular prenatal examination in Beijing Anzhen Hospital affiliated to Capital Medical University from January 2019 to December 2022 were selected as the study objects.The clinical data were analyzed retrospectively.According to whether cervical polypectomy was performed during pregnancy or not，they were divided into operation group （n=25，accept cervical polypectomy）and non-operation group （n =72，not accept cervical polypectomy）.Independent-samples t test，chi-square test and Mann-Whitney U test were used to compare the general clinical data and the clinical data related to pregnancy outcome between two groups.Multivariate logistic regression analysis was used to analyze the influencing factors on the pregnancy outcome of pregnant women with cervical polyps in two groups.This study was approved by the Ethics Committee of our hospital （Approval No.2024218x），and all pregnant women gave informed consent to diagnosis and treatment.

Results

①The rate of preoperative vaginal bleeding，the bleeding duration of vaginal bleeding and the longest diameter of cervical polyps in operation group were 76.0%，7.00 d （0.25，30.00 d）and 2.5 cm（1.9，3.0 cm），respectively，which were higher，longer and larger than those of 26.4%，0 d（0，0.50 d）and 1.0 cm（0.5，1.4 cm）in non-operation group，and the differences were statistically significant （χ²=19.17，P＜0.001；Z=-5.15，P＜0.001；Z=-4.58，P＜0.001）.②There were no significant differences in spontaneous abortion rate，preterm birth rate，full-term birth rate，cesarean section rate，preterm membranes premature rupture rate and neonatal birth weight between 2 groups （P＞0.05）.③There were no significant differences in the incidence of postoperative vaginal bleeding，spontaneous abortion，premature delivery，full-term delivery and premature rupture of membranes between cervical polyps and cervical decidual polyps pregnant women in operation group（P＞0.05）.④Vaginal bleeding of pregnant women with cervical polyps （OR=9.836，95% CI：1.948-49.659，P=0.006）was an independent risk factor for full-term pregnancy in non-operation group.No independent influencing factors were found for pregnancy outcomes in operation group.

Conclusions

Cervical polypectomy during pregnancy does not increase the risk of miscarriage and premature delivery in pregnant women with cervical polyps.For those with vaginal bleeding symptoms and cervical polyps enucleation were not performed during pregnancy，may affect their full-term pregnancy.

Patent ductus arteriosus（PDA）is a common complication in premature infants.The questions of whether to close it，when to close it，and how to close it have been the focal point of debate in the field of neonatology.Based on the monograph "Confusion andThinking in the Management of Patent Ductus Arteriosus in Preterm Infants"written in 2016，the authors intend to give an overview of the classification of PDA in premature infants and the overall trend of PDA management strategies in premature infants，the main current treatment methods for PDA in premature infants，and the indications for active clinical measures to close hemodynamically significant PDA （Hs-PDA）.Combined with the current research progress at home and abroad，the author further discusses the confusion in the management of PDA in premature infants after rethinking，aiming to be helpful for the clinical practice of PDA in premature infants.

Objective

To investigate the relationship between tumor regression rate（TRR）after radical radiotherapy and serum hemoglobin（Hb）levels before radiotherapy in cervical cancer patients，and their prognosis.

Methods

A retrospective analysis was conducted on 93 cervical cancer patients who underwent radical radiotherapy at Anqing 116 Hospital from July 2019 to July 2021.Patients were classified based on two year follow-up results into poor prognosis group （n=34，including recurrence，distant metastasis，and death）and good prognosis group ^（n=59，excluding the above three outcomes）.The baseline clinical data，TRR after radical radiotherapy，and blood parameters before radiotherapy such as white blood cell count （WBC），Hb，and neutrophil-tolymphocyte ratio （NLR），also levels of serum tumor markers before radiotherapy including carbohydrate antigen （CA）₁₂₅，carcinoembryonic antigen（CEA）and squamous cell carcinoma antigen（SCCA）of patients were compared between two groups by independent sample t test and chi-square test.Multivariate unconditional logistic regression analysis was used to analyze the independent influencing factors of prognosis of cervical cancer patients after radical radiotherapy.The predictive efficacy of TRR after radical radiotherapy combined with serum Hb levels before radiotherapy was evaluated using receiver operating characteristic（ROC）curves.This study was approved by the Ethics Committee of Anqing 116 Hospital （Approval No.HYLL-2023105），and informed consents were obtained from all patients and their families.

Results

①The rate of lymph node metastasis and the proportion of patients with International Federation of Gynecology and Obstetrics （FIGO）stagesⅢand IV in poor prognosis group were higher than those in good prognosis group，and the differences were statistically significant （P＜0.05）.②The TRR after radical radiotherapy，and WBC and Hb levels before radiotherapy in poor prognosis group were lower than those in good prognosis group，while NLR，CA₁₂₅，CEA and SCCA levels before radiotherapy were higher than those in good prognosis group，and all differences were statistically significant （P ＜0.05）.③Multivariate unconditional logistic regression analysis showed that TRR after radical radiotherapy （OR=0.927，95%CI：0.868-0.990，P=0.024），Hb levels before radiotherapy （OR=0.934，95%CI：0.884-0.987，P=0.015），serum level of CA₁₂₅ before radiotherapy （OR=1.415，95%CI：1.086-1.843，P=0.010），serum level of CEA before radiotherapy （OR=38.697，95%CI：3.749-399.392，P=0.002）and serum level of SCCA before radiotherapy （OR=1.546，95%CI：1.170-2.043，P=0.002）were all independent influencing factors of prognosis of cervical cancer patients after radical radiotherapy.④ROC curve analysis demonstrated that the TRR after radical radiotherapy combined with Hb level before radiotherapy for predicting the prognosis of patients with cervical cancer after radical radiotherapy had an area under the curve（AUC）of 0.963，with a sensitivity of 94.1%and specificity of 96.6%.

Conclusions

The TRR after radical radiotherapy and Hb level before radiotherapy are associated with prognosis in cervical cancer patients undergoing radical radiotherapy.The combined assessment of these two markers provides good predictive power for patient outcomes.

Objective

To explore the clinical diagnosis，treatment and prognosis of systemic lupus erythematosus （SLE）-related acute pancreatitis（AP）in children.

Methods

Twenty-four children with SLE-related AP admitted to West China Second University Hospital，Sichuan University from January 2018 to December 2024 were selected as the research subjects.AP was the initial presentation in 7 patients，and 17 patients were complicated by AP after the diagnosis of SLE.A retrospective study method was used to collect the general clinical data，clinical symptoms and signs，laboratory tests，imaging examinations，SLE disease activity index （SLEDAI），treatment and prognosis of all children.The procedures followed in this study were in line with the requirements of the newly revised World Medical Association Declaration of Helsinki in 2024.

Results

The results of clinical diagnosis，treatment and prognosis analysis of 24 children in this study were as follows.①General clinical data：Among the 24 cases of SLE-related AP children，the median age of SLE diagnosis was 12 years old，and there were 22 females （91.7%）.Severe AP accounted for 54.2%（13/24）.Common gastrointestinal manifestations included abdominal pain in 21 cases（87.5%），nausea and vomiting in 17 cases （70.8%），abdominal distension in 11 cases （45.8%），and upper abdominal tenderness in 19 cases （79.2%）.The SLEDAI score was 16-41 points.All had≥2 organs/systems involved，with acute kidney injury（AKI）in 16 cases （66.7%）and macrophage activation syndrome（MAS）in 4 cases （16.7%）.②Results of auxiliary examinations：Among the 24 cases of SLE-related AP children，the proportions of elevated serum amylase and（or）lipase，decreased serum Ca²⁺concentration，elevated triglyceride concentration were 20 cases（83.3%），22 cases（91.7%）and 20 cases （95.2%，20/21），respectively.Abnormal abdominal CT results were found in 20 children （83.3%）.Abdominal ultrasound was performed in 17 children，and abnormalities were found in 7 children （41.2%）.④Treatment and outcome：All 24 children received high-dose methylprednisolone pulse therapy，21 children were given immunosuppressants，and 18 children received plasma exchange therapy.After treatment，18 children （75.0%）achieved clinical remission and were discharged，six children （25.0%）died，all of whom were severe AP.The mortality rate of children with severe AP was 46.2%（6/13）.

Conclusions

Children with SLE-related AP has a similar clinical manifestation to AP children without SLE and occurs mostly in adolescent females，all of whom have active SLE with multiple organ system involvement.SLE-related severe AP is relatively common and has a high mortality rate.High-dose glucocorticoid therapy combined with immunosuppression and plasma exchange may lead to a better prognosis in children with SLErelated AP.

Objective

To explore the therapeutic efficacy of thoracoscopic surgery for congenital diaphragmatic hernia（CDH）in newborns.

Methods

A total of 19 newborns with CDH who underwent thoracoscopic surgery at the Department of Cardiothoracic Surgery，Kunming Children's Hospital from May 2016 to April 2023 were selected as study subjects.A retrospective analysis was conducted on the clinical data of their gender，birth weight，gestational age，side of CDH，surgical treatment and surgical efficacy.The study protocol was performed in accordance with the Helsinki Declaration of the WorldMedical Association revised in 2013.

Results

The clinical data and treatment efficacy of these 19 children with CDH were analyzed as follows.①Clinical data：7 cases（36.8%）were male and 12 cases were female （63.2%）.14 cases （73.7%）were left CDH and 5 cases （26.3%）were right CDH.All 19 children were born at full term，the birth weight was（3.2±0.3）kg.②Treatment strategies：Thoracoscopic surgery was performed in all 19 patients，with a median age of 4 d（2 d，7 d）.The surgical time was （129.0±40.6）min，and the median intraoperative bleeding volume was 3 m L（1 m L，10 m L）.The median postoperative drainage tube placement time was 7 d（2 d，48 d）.③Treatment efficacy：One patient required conversion to open chest surgery during the thoracoscopic procedure.18 patients were discharged without complications，the success rate of thoracoscopic surgery in this group of pediatric patients was 94.7%.One patient developed respiratory and circulatory failure on the second day after surgery and gave up treatment；16 patients （84.2%）had a good prognosis，and 3 patients were lost to follow-up；two patients had recurrence of CDH.

Conclusions

The benefits of thoracoscopic surgery for CDH in newborns are considerable，with a low amount of blood loss，a high survival rate，and a good prognosis.

Fetal tethered cord syndrome（TCS）is a common congenital neural tube malformation that causes neurological and urinary symptoms with varying d egrees after birth.With the increase of people's awareness of health care during pregnancy and rapid development of prenatal imaging t echnology，the prenatal diagnosis of fetal TCS or suspected fetal TCS are gradually increasing.However，there are very few literature reports on the perinatal diagnosis and management of fetal TCS.Once fetal TCS is diagnosed during pregnancy，a multi-disciplinary team（MDT）is required to jointly evaluate the fetal prognosis，make detailed prenatal clinical consultations，and provide individual protocols for TCS fetuses according to different pathogenesis of fetal TCS.This paper intends to focus on the the latest research progress on etiology，pathogenesis，classification and combined other malformations，as well as prenatal diagnosis and management，outcome and prognosis of TCS fetuses，in order to provide reference and suggestions for clinical consultation on TCS fetuses.

Objective

To investigate the efficacy and influencing factors of the Chinese Children's Leukemia Group （CCLG）-acute myeloid leukemia （AML）-2015 protocol in children with newly diagnosed AML.

Methods

From August 2015 to December 2019，a total of 154 newly diagnosed AML children who were treated at the Department of Pediatric Hematology-Oncology，West China Second University Hospital，Sichuan University were included in the study.The efficacy of the CCLG-AML-2015 protocol and its influencing factors were analyzed.The chi-square test was used to compare the composition ratios among children with different risk groups.Kaplan-Meier method was employed to plot survival curves，and the log-rank test was used to compare overall survival（OS）and event-free survival（EFS）rates among different risk groups.Univariate and multivariate analyses of factors affecting OS were performed using the Cox proportional hazards regression model.This study was in line with WorldMedicalAssociationDeclarationofHelsinki revised in 2013 and informed contents were obtained from all guardians.

Results

①Among the 154 newly diagnosed AML children，the majority were male （53.9%），classified as high-risk（55.2%），AML-M2 subtype （50.0%），initial white blood cell count ＜100×10⁹/L （83.8%），abnormal karyotypes （68.8%），positive fusion genes （59.1%），and with gene mutations （72.1%）.②There was significant differences in complete remission（CR）rates after the first induction therapy（χ²=9.39，P =0.009）and after the second induction therapy （χ² =8.08，P =0.018），as well transplantation rates （χ²=19.75，P＜0.001）among children with low，intermediate and high risk.③In the 154 children，33 cases （21.4%）experienced relapse.Treatment was discontinued in 25 cases（16.2%），who were subsequently lost to follow-up.④With a median follow-up of （54.2±1.8）months，the 5-year OS and EFS rates were （67.5±4.1）%and （57.5±4.5）%，respectively.Compared to children with high risk，the children with low and intermediate risk had significantly higher OS rate ［（88.1±4.7）%vs（72.6±5.4）%］and EFS rate ［（73.8±4.8）%vs （56.8±5.0）%］ （χ²=5.21，P=0.022； χ²=7.87，P=0.005）.⑤Falling to achieve CR after the first induction therapy （HR=2.609，95% CI：1.450-4.695，P=0.001）and relapse （HR=2.801，95% CI：1.546-5.076，P=0.001）were independent protective factors for newly diagnosed AML children.

Conclusions

The CCLG-AML-2015 protocol demonstrates significant efficacy in improving remission and survival rates in newly diagnosed AML children.Risk stratification and response to initial induction therapy are crucial factors influencing their survival outcomes.

Objective

To explore the clinical characteristics and diagnosis of children with neurofibromatosis type 1（NF1）complicated with nephrotic syndrome（NS），and to investigate the potential association mechanism between NF1 and NS through a literature review.

Methods

A 12-year-old male child with NF1 complicated with NS （Child 1）who was admitted to the Hubei Maternal and Child Health Hospital affiliated to Huazhong University of Science and Technology in February 2021 was selected as the research subject.A retrospective analysis was conducted to collect the clinical data，whole-exome sequencing（WES）results，and Sanger sequencing validation results of child 1.The pathogenicity of the detected variants was analyzed according to the guidelines established by the American College of Medical Genetics and Genomics （ACMG）.Keywords such as"neurofibromatosis type 1""nephrotic syndrome""nephritis"and their English equivalents were used to search relevant literature in databases such as Wanfang Data Service Platform，China National Knowledge Infrastructure （CNKI），and Pub Med.The search period was set from January 1，2001，to December 30，2024.This study adhered to the requirements of the revised 2013 DeclarationofHelsinkiofthe WorldMedicalAssociation.Informed consent was obtained from the guardians of the child.

Results

①Child 1，a boy，was admitted to the pediatric nephrology and rheumatology immunology department of Hubei Maternal and Child Health Hospital on January 14，2021，due to"generalized edema for 2 days".Physical examination upon admission revealed café-au-lait spots over the entire body，multiple small freckles in both axillae，and two tumors approximately 0.5 cm in size in the right renal area.Laboratory tests showed massive proteinuria，hypoalbuminemia，and hyperlipidemia，leading to a diagnosis of NF1 complicated with NS.After admission，the child was treated with adequate glucocorticoids to induce remission，and proteinuria turned negative before discharge.Seven days after discharge，the child again presented with proteinuria without any identifiable cause.Renal biopsy histopathological examination suggested podocyte lesions.Whole-exome sequencing（WES）revealed a deletion mutation （6361-6362del TC）in exon 42 of the NF1 gene on chromosome 17（NM_001042492），causing a frameshift variant，which met the ACMG pathogenicity criteria.Treatment with methylprednisolone tablets combined with tacrolimus was administered，and proteinuria turned negative again before discharge.②Literature review：A total of 17 patients were included，aged 3 to 70 years，with childhood-onset in 5 cases （29.4%）.Ten cases （58.8%）were confirmed to have NF1 through genetic testing.The types of renal injury associated with NF1 included membranous nephropathy，focal segmental glomerulosclerosis （FSGS），and Ig A nephropathy.

Conclusions

NF1 complicated with NS is clinically rare，and genetic testing is crucial for a definitive diagnosis.Abnormalities in the m TOR signaling pathway may mediate podocyte damage，leading to proteinuria.Combined treatment with glucocorticoids and immunosuppressants may be an effective therapeutic approach.

Objective

To investigate the clinical manifestations，diagnosis，and treatment of childhood sick sinus syndrome （SSS）.

Methods

A 2-year and 7-month-old boy with SSS admitted to the Affiliated Hospital of Qingdao University in April 2023 was selected into this study.A retrospective analysis was conducted to collect this boy's examination results after admission，main treatment process，and outcomes.And"sick sinus syndrome""syndrome，sick sinus""sick sinus node syndrome""sinus node dysfunction""sinus node disease""sinus node diseases""child""children""child，only""only children""children，only""minor""school-age children"were used as keywords to search databases such as China National Knowledge Infrastructure （CNKI），Chinese Medical Journal Network，Pub Med，Web of Science （WOS），and OMIM（https：//omim.org/）databases.The search time for the above Chinese and English databases was set from the establishment of the database to April 2024.This study was approved by the Ethics Committee of the Affiliated Hospital of Qingdao University （Approval No.QYFY WZLL 28844），and informed consent was obtained from the boy's guardians.

Results

①This boy was 2-year and 7-month-old.He was admitted to the Affiliated Hospital of Qingdao University in April 2023 with complaints of intermittent fever for 8 d and unsteady walking for 6 d.The initial symptoms of the boy were fever and unsteady gait.Echocardiography upon admission revealed ventricular septal defect，membranous ventricular septum aneurysm，and patent foramen ovale.The 24-hour Holter monitor showed sinus rhythm with ectopic rhythm，paroxysmal atrial flutter，atrial premature beats，junctional escape beats and escape rhythm，frequent ventricular premature beats，short runs of ventricular tachycardia，and dynamic changes in T-waves.Genetic testing r esults showed a heterozygous nonsense mutation in exon 9 of the SCN5A gene （NM_198056.3）：c.1036G＞T （p.Glu346Ter），which was inherited from his mother.The boy was treated with methylprednisolone（2 mg/kg），intravenous immunoglobulin（1 g/kg×1 dose），sodium creatine phosphate，vitamin C，ceftriaxone sodium for anti-infection treatment，and symptomatic supportive care.The boy's fever and gait instability resolved，but multiple arrhythmias were still observed on the follow-up 24-hour Holter monitor.In June 2023，the boy was treatment by percutaneous closure of the ventricular septal defect and atrial septal defect，as well as permanent pacemaker implantation at another hospital.As of now，the boy is free of clinical symptoms.②Literature review results：Based on the literature search strategy set for this study，28 articles related to childhood SSS，including 2 Chinese articles and 26 English articles were included，for a total of 80 SSS patients.The 80 patients primarily presented with neurological symptoms combined with arrhythmias，and six gene variations were identified，including SCN5A，GNB5，MECP2，HCN4，KCNJ3，and KCNJ5.

Conclusions

SSS is one of the causes of syncope and seizures in children.For SSS patients with neurological symptoms combined with bradycardia，genetic testing should be considered for further diagnosis.

Objective

To explore the clinical characteristics of Mollaret meningitis（MM）in children.

Methods

One child with MM （child 1）who visited Shanghai Children's Medical Center，Shanghai Jiaotong University on March 3，2022 was selected as the research subject.A retrospective analysis method was adopted to analyze the clinical data such as the medical history，admission physical examination，relevant examination results and diagnosis and treatment process of child 1.With"Mollaret meningitis"and "child"as key words both in Chinese and English，the relevant literature of MM children were searched from Wanfang Knowledge Service Platform，CNKI，VIP and Pub Med.The literature retrieval time was set from the establishment of each database to December 30，2024.The procedures followed in this study was complied with the requirements of the Helsinki DeclarationoftheWorldMedicalAssociation revised in 2013.

Results

①Child 1 is a 12 years and 11 months old boy.He was admitted to Shanghai Children's Medical Center，Shanghai Jiaotong University due to"intermittent fever for half a year and headache for more than 2 months".After admission，the child 1 was treated with comprehensive treatments including cefotaxime，meropenem，vancomycin，and acyclovir for anti-infection，mannitol and concentrated sodium for reducing intracranial pressure，methylprednisolone for anti-inflammation，and immunoglobulin G supportive therapy.The child's condition improved several times，and he had no complaints of discomfort during the period of temperature relief.However，after the improvement，he developed fever and headache for unknown reasons three times.The results of cranial MRI examination showed enhancement of the bilateral frontal，temporal，and parietal-occipital pia mater，and meningitis was considered first；the bilateral paraventricular vascular spaces were widened，and the cistern magna was slightly enlarged.During hospitalization，cerebrospinal fluid was collected by lumbar puncture for examination for a total of 9 times.Among them，the white blood cell count，cerebrospinal fluid pressure and protein were high during 3 attacks，while the rest cerebrospinal fluid indicators were basically normal.No pathogens were detected in four next-generation sequencing（NGS）of cerebrospinal fluid and one NGS of meningeal tissue.Further hematological examinations did not reveal autoimmune or infectious diseases.The whole exome gene sequencing analysis results of child 1 and his father showed no abnormalities.Combined with the child's examination results and the course of the disease，he was clinically diagnosed as MM.Therefore，all anti-infective drugs were discontinued and only low-dose prednisone（15 mg/d×7 d，reduced to 10 mg/d×14 d，and then reduced to 5 mg/d for continuous oral administration）and mycomfetil capsules（500 mg per dose，twice daily，for a total of 60 days）were taken orally.One month before discharge，the temperature of child 1 was stable and there were no complaints of discomfort.The child 1 was discharged on June 3，2022.After discharge，telephone follow-up was conducted until the end of May 2024，he discontinued prednisone and mycophenolate mofetil capsules for more than one year，and there were no complaints of discomfort.②Literature review results：A total of 12 related literature on pediatric MM were retrieved，involving 15 children with MM，including child 1，a total of 16 cases.Among them，5 were male and 11 were female.The age of 1 case was unknown，and the ages of the remaining 15 cases ranged from 2 years and 6 months to 18 years.All of 16 children presented with fever and headache.One case was positive for the pathogen of herpes simplex virus （HSV）-1，three cases were caused by spinal cysts，and remaining 12 cases had no clear cause.The white blood cell counts of cerebrospinal fluid in all of 16 children during the attack period increased，and 9 cases were significantly increased，and the cerebrospinal fluid protein significantly increased in 9 cases during the attack period.Only 6 cases had Mollaret cells detected in the cerebrospinal fluid during the attack period.Cerebrospinal fluid pressure was reported in 5 cases，among which the cerebrospinal fluid pressure was significantly elevated in 4 cases.Ten cases were misdiagnosed as purulent/viral meningitis before being diagnosed with MM and were treated with antibacterial and antiviral drugs.All of 16 cases had a history of multiple recurrent attacks.The treatment mainly focused on etiological and symptomatic treatment.After treatment，except for child 2 who had epileptic seizures，the prognosis of the remaining 15 children was good.

Conclusions

Pediatric MM is rare in clinical practice and is prone to misdiagnosis.Clinically，for those with more than 2 recurrent episodes of meningitis，abnormal white blood cell count，protein and pressure in cerebrospinal fluid during the attack period，and a short-term recovery after treatment，MM should be considered.Treatment of MM child is mainly symptomatic based on finding possible related causes.

Uterine perivascular epithelioid cell tumor （PEComa）is a rare mesenchymal neoplasm characterized by distinctive histological，immunohistochemical，and genetic features，along with non-specific clinical manifestations and atypical imaging characteristics.Preoperative diagnosis is arduous，and it is frequently misdiagnosed as uterine fibroids，uterine sarcoma，or other uterine tumors.To date，only a limited number of cases of uterine PEComa have been reported，and there is no standardized consensus on diagnosis and treatment of PEComa.Surgery remains the preferred treatment option，and the efficacy of adjuvant therapy is still controversial.Nevertheless，recently，targeted therapy with mechanistic target of rapamycin （m TOR）inhibitors appears to have achieved superior efficacy.The author intends to elaborate on the origin，definition，epidemiological characteristics and causes of PEComa，as well as the characteristics，classification criteria，clinical manifestations，imaging diagnosis and differential diagnosis of uterine PEComa，and the latest research status of uterine PEComa treatment，aiming to provide reference for subsequent research on this disease.

Objective

To explore the clinical characteristics of a child with primary immunodeficiency diseases（PID）caused by PIK3CD gene mutation combined with primary ciliary dyskinesia（PCD）and review related literature.

Methods

A case of child （patient 1）with PID caused by PIK3CD gene mutation combined with PCD diagnosed by genetic testing and bronchial mucosal electron microscopy in the West China Second University Hospital，Sichuan University，in February 2021 was selected for the study.The clinical data and results of genetic testing and bronchial mucosal biopsy electron microscopy of patient 1 were analyzed by retrospective analysis method.Literature related with PID combined with PCD in domestic and foreign databases was reviewed using the retrieval strategy set in this study.The procedures followed in this study conformed to the standards set by the Ethics Committee of West China Second Aniversity Hospital，Sichuan University and were approved by the committee （Approval No.2022-074）.

Results

①Patient 1 was a 11 years and 3 months boy who hospitalized for"nasal obstruction，purulent nasal discharge for 2⁺years and cough for 20⁺days".He had recurrent respiratory infections.Physical examination at admission suggested that scattered enlarged lymph nodes could be palpated in the bilateral neck，axilla，and groin，and congestion of nasal mucosa and turbinate swelling，and purulent secretion were found in the nasal cavity.Results of relevant auxiliary examinations at admission showed an immunoglobulin （Ig）G3 level of 0.065 g/L，which was lower than the normal reference value.Genetic testing showed that patient 1 had a missense mutation c.3061G ＞A （p.E1021K）in the PIK3CD gene.Electron microscopy of bronchial mucosal biopsy showed that the epithelial cilia of bronchial mucosa of patient 1 were abnormal with the structure of"9+2"，and the endo-and exo-dynamic protein arms were missing.Combining the child's clinical manifestations with the results of genetic testing and bronchial mucosal biopsy electron microscopy，he was diagnosed with PID caused by PIK3CD gene mutation combined with PCD.He was given comprehensive treatment including anti-infective therapy，regular gammaglobulin infusion，and pulmonary rehabilitation，and his condition was improved with decreased frequency of respiratory infections.②Results of literature review：according to the search strategy set for this study，one piece of literature related to children with PID combined with PCD was retrieved，involving four children with humoral immunodeficiency combined with PCD （patient 2 to 5）.Including patient 1 in this study，a total of five children were analyzed.The age of onset of these five children ranged from 7 to 13 years old，with an average age of 9.8 years old.All five cases had a history of chronic cough，bronchiectasis，chronic sinusitis，and recurrent ear infections.Patient 1 with c.3061G＞A （p.E1021K）mutation in PIK3CD gene had a reduced IgG3，patient 2 had a reduced IgG，and patient 4 had a reduced Ig A and IgG3，both of patient 2 and patient 4 were not subjected to genetic test.Patient 3 had decreased Ig A，Ig M，IgG2，and IgG3，and a homozygous DNAH11 mutation was detected，and patient 5 had decreased Ig A，and a double allele DNAH11 mutation was detected.

Conclusions

PID caused by PIK3CD gene mutation combined with PCD can cause recurrent respiratory tract infections with poor clinical outcomes.Combining clinical features，genetic testing，and bronchial mucosal biopsy electron microscopy results，early diagnosis and treatment can improve the prognosis of children with PID caused by PIK3CD gene mutation combined with PCD.

Objective

To explore the differences in life satisfaction between only children and non-only children，and to investigate the impact of reinforcement sensitivity on the life satisfaction of these two groups.

Methods

A total of 710 elementary school students in Jinan，Linyi，and Yantai of Shandong P rovince，who were born from August 2007 to August 2010 were selected as subjects for this study.Based on their status as an only child or not，participants were divided into only child group （n=295）and non-only child group （n=415）.The student's life satisfaction scale （SLSS）and the sensitivity to punishment and sensitivity to reward questionnaire for children （SPSRQ-C）were employed to assess the life satisfaction and reinforcement sensitivity of the two groups.Point-biserial correlation analysis and Pearson correlation analysis were utilized to analyze the relationships between being an only child or a non-only child and their life satisfaction，respectively，as well as and the dimensions of reinforcement sensitivity，respectively，also between their life satisfaction and the dimensions of reinforcement sensitivity.The mediation effects of sensitivity to reward（SR）and sensitivity to punishment（SP）on the life satisfaction of only c hildren were analyzed respectively，using Model 4 of the RPOCESS plugin in SPSS software.This study was approved by the Ethics Committee of Qilu Hospital of Shandong University （Approval No.2018178），and informed consent forms was obtained from both the school and the guardians of the students.

Results

①The SLSS score of only-child group was higher than that of non-only child group，while the scores of SP，SR，and the reward responsiveness dimension of SR in only child group were all lower than those in non-only child group，and the differences were statistically significant（P ＜0.05）.②Non-only children exhibited a negative correlation with their life satisfaction （r=-0.11，P＜0.01），a positive correlation with SP （r=0.13，P ＜0.01），and positive correlations with both SR and the reward responsiveness dimension of SR （r=0.08，P ＜0.05；r=0.10，P ＜0.01）.③Life satisfaction in both only child and non-only child groups were negatively correlated with SP （r=-0.12，-0.10；both P＜0.05）.④SR served as a mediator between only children and life satisfaction（Z=-0.111，P=0.911），accounting for 0.48%of the effect；SP played a partial mediating role between only children and life satisfaction，with an effect share of 13.5%.

Conclusion

Reinforcement sensitivity has a certain impact on the life satisfaction of only children.

Objective

To explore the clinical characteristics and risk factors of thrombocytopenia in preterm infants with late-onset sepsis （LOS），and the predictive role of platelet count（PLT）for early complications ［metabolic bone disease of prematurity （MBDP）and nutritionrelated cholestasis （PNAC）］.

Methods

A total of 123 preterm infants with LOS admitted to the Department of Neonatal Medicine，Shengjing Hospital Affiliated to China Medical University from January 2020 to January 2023 were selected into this study.According to the minimum PLT level during sepsis infection，the 123 infants were divided into three groups：mild group（n=22，50×10⁹/L≤PLT＜100×10⁹/L），severe group （n=26，PLT＜50×10⁹/L），and control group（n=75，PLT≥100×10⁹/L）.Retrospective analysis was performed on the following clinical data of the 123 preterm infants with LOS.①General clinical data：infant factors including gender，gestational age，birth weight，and history of asphyxia，etc.，maternal factors including gestational diabetes（GDM），pregnancy-induced hypertension，prenatal infection，premature rupture of membranes（PROM），and mode of delivery，etc..②Laboratory test results：blood routine ［white blood cell count （WBC），neutrophil count （NEUT），lymphocyte count （LYM），hemoglobin（Hb），mean platelet volume （MPV），plateletcrit，platelet distribution width （PDW）］，C-reactive protein（CRP），procalcitonin（PCT），and pathogen detection results ［Gram-positive（G⁺），Gram-negative（G^-）and fungi］，etc..③Treatment-related indicators：types and duration of antibiotic use，duration of mechanical ventilation，whether blood products were transfused and types［red blood cells，platelets and（or）plasma，albumin，and immunoglobulin］，whether to use vasoactive drugs such as dopamine［＞5μg/（kg·min）］were used.④Discharge data：total hospital stay，neonatal intensive care unit（NICU）stay，total duration of mechanical ventilation after infection，percentile of discharge weight among children of the same gestational age，etc..⑤Recent complications：extrauterine growth retardation （EUGR），necrotizing e nterocolitis （NEC），retinopathy of prematurity （ROP），MBDP and PNAC，etc..This study was approved by the Ethics Committee of Shengjing Hospital Affiliated to China Medical University ^（Approval No.2023PS1036K）.

Results

①General data：The proportion of infants with a history of asphyxia and PROM，and the positive rate of pathogen detection were significantly different among the three groups （P＜0.05）.②Laboratory test results：The plateletcrit and initial PDW，CRP，PCT levels during each period of sepsis infection were significantly different among the three groups （P＜0.05）.③Treatment：The transfusion of blood products，platelets and（or）plasma，dopamine＞5μg/（kg·min），and the duration of antibiotic use during sepsis infection were significantly different among the three groups （P ＜0.05）.④Discharge status：The percentile of discharge weight among c hildren of the same gestational age was significantly different among the three groups （P ＜0.05），and further pairwise comparisons showed that the discharge weight percentile of the severe group was lower than that of the control group （P ＜0.05）.⑤Recent complications：The incidence of EUGR，MBDP and PNAC was significantly different among the three groups （P＜0.05）.Further pairwise comparisons showed that the incidence of EUGR and MBDP in the mild group was higher than that in the control group，and the incidence of PNAC in the mild and severe groups was higher than that in the control group （P ＜0.05）.⑥Multivariate analysis：Asphyxia（OR=2.662，95%CI：1.081-6.547，P=0.033）and positive pathogen detection results（OR=5.491，95%CI：1.943-15.511，P=0.001）were independent risk factors for thrombocytopenia in preterm infants with LOS.⑦Receiver operating characteristic（ROC）curve analysis results：The area under curve（AUC）of PLT count combined with birth weight for predicting MBDP and PNAC in preterm infants with LOS was 0.875（95%CI：0.808-0.942）and 0.900（95%CI：0.832-0.968，P＜0.001），respectively，with sensitivity of 87.5%and 90.0%，and specificity of 72.9%and 86.4%，respectively.

Conclusions

PLT count combined with birth weight has a high predictive value for MBDP and PNAC in preterm infants with LOS，which helps to assess the risk of recent complications in preterm infants with LOS.