To explore the feasibility of using indocyanine green(ICG) visualizing the deep infiltrating endometriosis (DIE) during robotic surgery.

A patient with DIE in Department of Genecology and Obstetrics, Chinese PLA General Hospital was selected and underwent total hysterectomy with bilateral adnexectomy and endometriosis lesion excision with perfect preoperative examination and no surgical contraindication. Near-infrared fluorescence imaging with indocyanine green was used in the operation to visualize the endometriosis lesions.

The location of the lesions were accurate and the patient discharged from hospital successfully.

Near-infrared fluorescence imaging system with indocyanine green may clearly visualize the deep infiltrating endometriosis during robotic surgery. It is characterized by brief operation, accuracy and real time. With this technique, we can comprehensively evaluate the scope of our surgery.

To investigate the clinical characteristics, diagnosis, and treatment course of a patient with lung malignancy complicated by severe pneumonia caused by Chlamydia psittaci infection.

The clinical data of a patient with lung malignancy complicated by Chlamydia psittaci induced severe pneumonia, admitted to the Department of Respiratory and Critical Care Medicine of the General Hospital of Western Theater Command on December 3, 2023, were retrospectively analyzed. Relevant literature was also reviewed to summarize the clinical features and management strategies for severe Chlamydia psittaci pneumonia.

A 60-year-old female patient presented with high fever, cough, and sputum production. After admission, she received non-invasive ventilation and broad-spectrum antibiotic therapy with meropenem. However, her condition deteriorated rapidly, and her oxygen saturation remained difficult to maintain even after endotracheal intubation and invasive mechanical ventilation. Subsequently, bronchoscopy and bronchoalveolar lavage (BAL) were performed under extracorporeal membrane oxygenation (ECMO) support. Metagenomic next-generation sequencing (mNGS) of the BAL fluid identified Chlamydia psittaci as the causative pathogen. Targeted antimicrobial therapy with doxycycline, azithromycin, and levofloxacin was sequentially administered, leading to clinical improvement. Ultimately, the patient underwent thoracoscopic radical resection for lung cancer. Postoperative genetic testing of the specimen revealed a deletion variation on exon 19 of EGFR. Adjuvant therapy with icotinib was initiated, resulting in complete remission.

mNGS technology can effectively improve the detection rate of Chlamydia psittaci and prevent further clinical deterioration. For patients with severe Chlamydia psittaci pneumonia, early respiratory support combined with precise targeted antimicrobial therapy is crucial for improving patient prognosis.

To explore the clinical manifestations, complications, diagnosis, treatment and prognosis in neonatal Ureaplasma parvum (Up) meningitis.

A preterm infant with early-onset Up meningitis (infant 1), who was admitted to Xuzhou Central Hospital on October 31, 2023 was included into this study. A retrospective analysis was conducted on the clinical data of infant 1, including medical history, physical examination findings at admission, relevant auxiliary examination results, and the diagnosis and treatment process. Using the search terms " Ureaplasma parvum" " meningitis" " neonate/newborn" " preterm/premature" both in Chinese and English, literature related to neonatal Up meningitis indexed in domestic databases (Wanfang Data Knowledge Service Platform, CNKI, and VIP Database) and international databases (PubMed, Embase, and Web of Science) from the inception of each database to April 2025 was searched. A comprehensive analysis of the clinical manifestations, complications, diagnosis, treatment, and prognosis of Up meningitis in newborns was conducted on the related literature. This study was in line with World Medical Association Declaration of Helsinki revised in 2013.

①Infant 1: a female preterm infant with early-onset Up meningitis born at a gestational age of 34^{+ 1} weeks, was admitted to our hospital on the day of birth due to " moaning and frothing for 30 minutes" after delivery. Antenatal vaginal swab from the mother and a postnatal nasal swab from the infant 1 both tested positive for Ureaplasma Urealyticum (UU) nucleic acid. On day 6 after admission, the infant 1 began to experience recurrent low-grade fevers accompanied by apnea. Combined with a cerebrospinal fluid white blood cell count (WBC) of 62×10⁶/L, a glucose concentration of 0.55 mmol/L, and a protein level of 1.29 g/L, metagenomic next-generation sequencing (mNGS) detected Up in the cerebrospinal fluid, with a sequence count of 154 and a relative abundance of 32.25%, Up meningitis was diagnosed. On day 7 after admission, high-dose intravenous azithromycin was initiated at 20 mg/(kg·d) once daily. The dose was reduced to 5 mg/(kg·d) once daily on day 10 after admission. From day 18 to 27 after admission, due to " intraventricular hemorrhage and severe obstructive supratentorial hydrocephalus", daily therapeutic cerebrospinal fluid aspiration (10 mL/kg) was performed. The cerebrospinal fluid parameters gradually normalized, and azithromycin was discontinued on day 27 after admission. However, the hydrocephalus did not significantly improve. On day 29 after admission, the infant 1 was transferred to another hospital for Ommaya reservoir placement. From 3 to 6 months after birth, there was no longer any need to withdraw hydrocephalus fluid, and the symptoms of hydrocephalus improved. At a corrected age of 6 months, the development of infant 1 was assessed as essentially normal. ②Literature review results: A literature search identified 15 relevant articles on neonatal Up meningitis, reporting on 16 affected neonates (infants 2-17). Including infant 1, a total of 17 neonates with Up meningitis were analyzed. Among these 17 cases, excluding one case whose gender was not reported, there were 6 males and 10 females; gestational age was not reported in one case, but the median gestational age of the remaining 16 cases was 31.5 weeks (27.3, 39.8 weeks), with 10 cases being preterm (gestational age at birth < 37 weeks); birth weight was not reported in one case, but the median birth weight of the remaining 16 cases was 1 860 g (997, 3 355 g), with 9 cases having low birth weight (birth weight < 2 500 g); the median age at onset was 7 days after birth (3.0, 10.5 days), and 9 cases were classified as early-onset (within 7 days after birth) Up meningitis. Clinically, 12 cases presented with fever, 6 with neurological abnormalities, and 4 with respiratory abnormalities. Complications included hydrocephalus in 10 cases and intracranial hemorrhage in 3 cases. The cerebrospinal fluid examination results showed an elevated WBC count (median: 608×10⁶/L), a significantly increased protein level (3.7±2.0) g/L, and a significantly decreased glucose concentration (median: 0.5 mmol/L). In 10 cases, mNGS was the sole method used to detect Up in the cerebrospinal fluid. Commonly used antibiotics for Up meningitis included erythromycin, azithromycin [often at a dose of 20 mg/(kg·d)], and quinolones, with treatment courses ranging from 3 to 10 weeks. Hydrocephalus was managed with Ommaya reservoir insertion alone in 4 cases. Regarding outcomes, follow-up information was unavailable for one infant. Of the remaining 16 cases, follow-up assessments indicated normal intellectual and motor development in 14 infants.

Neonatal Up meningitis predominantly occurs in preterm infants, with early-onset cases being the most common. The primary clinical manifestation is fever, while the incidence of neurological abnormalities is relatively low. Some infants may present with respiratory abnormalities, and the condition is frequently associated with complications such as hydrocephalus and intracranial hemorrhage. Cerebrospinal fluid analysis typically reveals an elevated WBC count, significantly increased protein levels, and markedly decreased glucose concentrations. mNGS is commonly used for the detection of Up. Macrolides and quinolones are the antibiotics of choice for treatment, while Ommaya reservoir implantation alone is the preferred approach for managing hydrocephalus. The prognosis is favorable for the vast majority of infants following treatment.

To investigate the clinical characteristics, genetic features, and diagnostic and therapeutic strategies of deficiency in ELF4, X-linked (DEX).

A child with DEX who was hospitalized at the Children′s Hospital of Soochow University in September 2022 was enrolled as the proband. Clinical data, including clinical manifestations, laboratory findings, imaging features, genetic testing results, treatment, and follow-up outcomes, were retrospectively analyzed. Whole-exome sequencing (WES) was performed to identify ELF4 gene variants, which were subsequently confirmed by Sanger sequencing, and their pathogenicity was evaluated according to the guidelines of the American College of Medical Genetics and Genomics (ACMG). A literature search was conducted using the keywords " " ELF4 deficiency" and " ELF4 mutation" in Chinese and English across the Wanfang Data, China National Knowledge Infrastructure (CNKI), Chinese Medical Journal Network, and PubMed databases. The search period ranged from inception to December 30, 2025. This study was approved by the Medical Ethics Committee of the Children′s Hospital of Soochow University (Approval No. 2024CS087), and written informed consent was obtained from the patient′s guardian.

①The proband was a 4-year-10-month-old boy, the second-born of a twin pregnancy. His main clinical manifestations included perianal abscess, recurrent fever, abdominal pain, and oral ulcers. Colonoscopy revealed a large ulcer in the ileocecal region. WES identified a missense variant in the ELF4 gene (NM_001421.3), c.799C>T (p.R267W), located within the ETS domain. Sanger sequencing confirmed that the variant was maternally inherited, and it was classified as likely pathogenic according to the ACMG guidelines. Immunological evaluation indicated abnormalities in certain T- and B-lymphocyte subsets. The patient′s condition gradually improved following combined treatment with glucocorticoids, immunosuppressants, and biologic agents. His monozygotic twin brother presented only with recurrent oral ulcers and had milder symptoms. ②Literature review: A total of 29 pediatric patients with DEX were included. Among them, 89.7% (26/29) were male, and 64.3% (18/28) had disease onset at ≤6 years of age. The main clinical manifestations included oral ulcers (86.2%, 25/29), gastrointestinal symptoms (69.0%, 20/29), and fever (58.6%, 17/29). Glucocorticoids and biologic agents were the main therapeutic options. Overall, 72.4% (21/29) of patients achieved clinical remission after treatment, of whom 76.2% (16/21) required combination therapy. One patient maintained remission without medication, and one patient died due to multiple lymphomas. A total of 23 distinct ELF4 gene variants were identified in the 29 patients, with missense and frameshift variants being the most common, each accounting for 39.1% (9/23). Notably, 87.0% (20/23) of the variants involved the ETS domain, and variants affecting this domain were more likely to be associated with an autoinflammatory phenotype.

DEX exhibits marked clinical heterogeneity, and most patients require combination therapy for disease control. The disease predominantly presents with autoinflammatory features and may manifest as inflammatory bowel disease-like or Behçet′s disease-like phenotypes. ELF4 variants are mainly clustered in the ETS domain and variants involving the ETS domain of ELF4 may be associated with an autoinflammatory phenotype. Given that effective disease control often requires multi-drug therapy, early genetic testing should be considered in patients with early onset, atypical clinical manifestations, or poor response to treatment to establish a definitive diagnosis and guide individualized therapy.

To raise the awareness of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), which presents as tumefactive demyelinating lesions, and to improve the early diagnosis and treatment, and to avoid the misdiagnosis and inappropriate management.

The clinical data and management of a patient with MOGAD admitted to the Affiliated Hospital of Jining Medical University on December 30th, 2024 were analyzed, retrospectively, and relevant literature were reviewed.

A 60-year-old female patient presented with dizziness and headache lasting more than 20 days, as well as unsteady gait and aphasia for 6 days, whose clinical presentation was consistent with a brain tumefactive demyelinating lesions. The patient’s serum and cerebrospinal fluid samples were both positive for anti-myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) antibodies at a titre of 1∶10+. Cranial magnetic resonance imaging (MRI) revealed subcortical brain tissue swelling with abnormal signals in the bilateral temporal and frontal lobes, presenting as tumour-like changes. A diagnosis of MOG-associated demyelinating encephalopathy (MOGAD) was confirmed. The patient was treated with a corticosteroid pulse therapy of 500 mg/d of methylprednisolone, gradually tapered to 62.5 mg/d, followed by combination therapy with the immunosuppressant mycophenolate mofetil capsules, resulting in significant symptom relief. A follow-up MRI performed longer than three months after discharge showed that the abnormal intracranial signals had resolved by approximately 70% compared with the previous scan, with a favourable prognosis.

The clinical presentation of MOG is complex and requires differential diagnosis from other central nervous system disorders, and the importance of MOG-IgG testing must be given high priority to avoid misdiagnosis and inappropriate treatment.

To explore the clinical effect of local radiotherapy in patients with recurrent and metastatic colorectal cancer.

The clinical data of 31 patients with recurrent and metastatic colorectal cancer admitted to the Affiliated Hospital of Inner Mongolia Medical University from January 2020 to August 2025 were analyzed retrospectively. These patients received salvage local radiotherapy after multiple lines of treatment failure, with the main goals being palliative symptom relief and local control. Radiotherapy was performed with CT simulation machine enhance scanning for positioning. The target area was delineated using the Pinnacle planning system. The prescription dose of the target area was formulated according to different lesion sites, with the prescription dose of 24-62.5 Gy/10-30 fraction. Different radiotherapy schemes calculated the biologically effective dose (BED, α/β=10) according to the segmentation method, so as to improve the comparability between doses. Chemotherapy and/or targeted immunotherapy were combined during radiotherapy. The clinical efficacy of local lesions was evaluated one month after radiotherapy, and the overall survival time after comprehensive treatment was followed up. At the same time, the adverse reactions of patients were observed during radiotherapy, and the adverse reactions were graded according to the common adverse event evaluation standard (CTCAE 5.0). Kaplan-Meier method was used for survival analysis, and the survival differences between different groups were compared by Log-rank test.

Among the 31 patients in the entire group, the average age was 61 years old, and the median follow-up time was 7.4 months. Up to the end of follow-up, 23 patients died and 8 patients survived. One month after the end of radiotherapy, the clinical effects were: partial remission in 14 cases (45.16%), stable disease in 16 cases (51.61%), progressive disease in 1 case (3.13%), with an objective response rate of 45.2% and a disease control rate of 96.8%. After comprehensive treatment, the median overall survival was 7.2 months, and the one-year overall survival rate was 23%. At the end of radiotherapy, 9 patients had grade 1-2 adverse reactions.

Local radiotherapy has high local control rate and tolerable safety for patients with recurrent and metastatic colorectal cancer after failure of ≥2-line system treatment, and can be used as a salvage treatment option.

To investigate the clinical manifestations, renal pathological characteristics, and potential mechanisms of Imerslund-Gräsbeck syndrome (IGS) caused by AMN gene mutations, and to analyze the characteristics of renal involvement through a literature review.

A male child (patient 1), aged 11 years and 7 months, diagnosed with AMN mutation-related IGS at the Department of Pediatric Nephrology, West China Second University Hospital (Tianfu), Sichuan University on August 19, 2025, was selected as the research subject. A retrospective analysis was conducted on clinical manifestations, laboratory examinations, renal biopsy findings, and genetic testing results. Additionally, a literature search was performed regarding AMN gene mutation-related IGS and the renal pathological findings associated with IGS. The procedures followed in this study were in line with the requirements of the newly revised World Medical Association Declaration of Helsinki in 2013.

①The primary clinical features of patient 1 included recurrent megaloblastic anemia, vitamin B₁₂ deficiency, and persistent proteinuria. Urinary protein component analysis indicated predominantly tubular proteinuria accompanied by elevated albuminuria. Light microscopy of the renal biopsy revealed mild mesangial proliferation. Electron microscopy showed diffuse thinning of the glomerular basement membrane (GBM) in approximately 70% of the capillary loops, along with segmental fusion of podocyte foot processes. Whole exome sequencing (WES) identified a novel homozygous frameshift mutation in the AMN gene: c. 624del (p.Ser209ArgfsTer51). Sanger sequencing confirmed that both parents were heterozygous carriers of this variant. This variant was not recorded in the gnomAD, ClinVar, or HGMD databases, and no relevant published reports were identified in the literature search. According to the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines, the variant was classified as pathogenic. ② The literature review identified 22 publications on pediatric patients with AMN mutation-related IGS. Including patient 1 from the present study, a total of 33 patients were included in the analysis, among whom anemia was reported in 32 cases (97.0%), decreased serum vitamin B₁₂ levels in 31 cases (93.9%), and proteinuria in 29 cases (87.9%). AMN mutation-related IGS is mainly characterized by megaloblastic anemia, vitamin B₁₂ deficiency, and proteinuria, with onset occurring predominantly from infancy to the preschool years. Following vitamin B₁₂ replacement therapy, anemia and vitamin B₁₂ deficiency were generally improved, whereas proteinuria often persisted. In addition, 12 publications reporting renal biopsy findings in patients with IGS were included; together with patient 1 from the present study, a total of 22 patients underwent renal biopsy. Renal pathological changes in patients with IGS were generally mild; among cases with a defined genotype, patients with AMN mutations usually exhibited only mild pathological alterations, whereas those with CUBN variants could also present with proximal tubular abnormalities.

Patients with IGS associated with the novel homozygous frameshift mutation of the AMN gene may exhibit ultrastructural glomerular abnormalities: specifically GBM thinning and podocyte alterations, in addition to impaired proximal renal tubular reabsorption. The clinical significance of these findings warrants further investigation.

To characterize the clinical phenotype and genetic features of infantile-onset atypical hemolytic uremic syndrome (aHUS) caused by DGKE gene variants.

One infant with aHUS (patient 1, the proband), admitted to Xi′an Children′s Hospital in June 2021, was investigated. Whole-exome sequencing (WES) was performed to identify candidate pathogenic variants, followed by validation using Sanger sequencing. Bioinformatics tools, including the Human Gene Mutation Database (HGMD, https: //www.hgmd.cf.ac.uk/), were used to determine whether the DGKE variant had been previously reported. The pathogenicity of the detected variant was classified according to the standards and guidelines for the interpretation of sequence variants issued by the American College of Medical Genetics and Genomics (ACMG). Amino acid conservation analysis and protein structural modeling were performed to evaluate the potential effect of the variant on protein structure and function, as well as its possible relevance to the clinical phenotype. A literature search was conducted using the keywords " DGKE" and " atypical hemolytic uremic syndrome" across CNKI, Wanfang Data, VIP, and PubMed databases, covering publications from January 1, 2021, to May 31, 2025. This study was approved by the Ethics Committee of Xi′an Children′s Hospital (Approval No. 20250040), and informed consent was obtained from the guardian of patient 1.

①Patient 1, an 8-month-old female, presented with a 4-day history of diarrhea and gross hematuria. Initial laboratory evaluations revealed hematuria, nephrotic-range proteinuria, decreased hemoglobin (Hb), thrombocytopenia, and elevated levels of lactate dehydrogenase (LDH), urea, and creatinine, with serum complement C3 and C4 levels within the normal range. The patient was treated with plasma infusion (PI) and plasma exchange (PE), and has been followed up for over 4 years. During this period, she experienced two relapses, with persistent proteinuria but preserved renal function. ② WES identified a homozygous variant in exon 5 of the DGKE gene [NM_003647.3: c.839A>T(p.D280V)], which has not been previously reported in HGMD. According to the rating criteria of the ACMG Guidelines, the variant was classified as a variant of uncertain significance. Both parents, who were asymptomatic, were confirmed to be heterozygous carriers, consistent with autosomal recessive inheritance. In silico analyses predicted this variant to be pathogenic. Three-dimensional modeling of the DGKE protein indicated that the mutation induces structural abnormalities, potentially disrupting downstream signaling pathways. ③ Literature review: According to the literature search strategy designed in this study, 7 relevant articles on DGKE gene variant-associated aHUS in children were retrieved from domestic and international sources, involving a total of 19 aHUS cases. Together with patient 1, a total of 20 aHUS children were included in the analysis of clinical phenotypes and genetic characteristics of aHUS children with DGKE gene variants. Among these, 16 were male and 4 female; 19 cases had disease onset before 2 years of age. Fourteen patients presented with nephrotic-range proteinuria, 16 developed hypertension, 8 exhibited varying degrees of complement depletion, and 11 experienced one or two relapses during follow-up. Five patients died during the initial episode or relapse.

This study identified that the homozygous variant c. 839A>T (p.D280V) in the DGKE gene is a previously unreported variant, which may cause infantile-onset aHUS, typically characterized by persistent proteinuria and a high risk of relapse. These findings expand the mutational spectrum of the DGKE gene and may enhance clinicians′ understanding, diagnosis, and management of DGKE-associated aHUS.