Objective To explore the predictive value of forkhead box P3 (FOXP3) mRNA expression in cord blood derived regulatory T cells (Tregs) and the associated cytokines interleukin-10 (IL-10) and transforming growth factor-β (TGF-β) for early-onset atopic dermatitis (AD) in infants. Methods The healthy full-term newborns delivered vaginally at Shanghai Fifth People’s Hospital from September 2023 to April 2024 were enrolled. Umbilical vein blood was collected at birth to measure FOXP3 mRNA expression by RT-PCR and IL-10 and TGF-β concentrations by ELISA. Follow-up was performed at 6 weeks, 3 months, and 6 months postnatally via telephone or outpatient visits to assess the occurrence of AD in infants. Based on the occurrence of AD at 6 months of age, the infants were divided into an AD group and a control group. The indicators related to mothers and infants were compared between the two groups. Logistic regression analysis was used to identify risk factors for the development of AD in infants within 6 months after birth, and a predictive model was constructed. The performance of the model in predicting early-onset AD was evaluated using receiver operating characteristic (ROC) curve analysis. Results A total of 59 infants completed 6-month follow-up, with 17 (28.8%) diagnosed with AD. No significant differences were observed in gestational age, sex, birth weight, presence of siblings, smoking expossure, maternal dietary preferences (egg, milk, or seafood intake), maternal age and education level, or cord blood IL-10 levels between two groups. There were significant differences in season of birth, family history of atopic disease, feeding method, and cord blood levels of FOXP3 mRNA and TGF-β between two groups (P＜0.05). Logistic regression analysis showed low levels of cord blood FOXP3 mRNA and TGF-β, and family history of atopic disease were risk factors for early-onset AD in infants (P＜0.05). A predictive model was constructed using risk factors. The area under the curve of the combined model was 0.821 (95%CI 0.680–0.962), with a sensitivity of 76.5% and a specificity of 85.7%. Conclusion Reduced cord blood FOXP3 mRNA and TGF-β level, and a family history of atopic diseases could be used to predict early-onset AD in infants.

Objective:To analyze the clinical features and genetic sequencing results of a patient with Kallmann syndrome(KS) carrying digenic mutations who initially presented with osteoporosis, and to enhance awareness of this disease phenotype.Methods:Clinical data were collected, and peripheral blood DNA was extracted for whole-exome sequencing. Relevant literature was reviewed to summarize phenotypes associated with digenic/oligogenic variants involving CHD7.Results:The patient exhibited back pain, delayed development of secondary sexual characteristics, and hyposmia. Laboratory tests revealed reduced sex hormones and gonadotropin levels, while pituitary imaging was unremarkable. Bone mineral density imaging confirmed osteoporosis, and thoracolumbar X-rays showed multiple vertebral compression fractures. Genetic analysis identified a heterozygous splice-site mutation in CHD7(c.2698-1G>T) and a heterozygous missense mutation in WDR11(c.439G>A: p.D147N). According to ACMG criteria, the CHD7 mutation was classified as pathogenic, while the WDR11 variant was defined as a variant of uncertain significance(VUS). Literature review indicated that 40% of KS patients with digenic/oligogenic variants involving CHD7 presented with hearing or ocular abnormalities.Conclusion:This study reports a novel CHD7 mutation and a previously undescribed digenic combination of CHD7 and WDR11 variants in a KS patient. CHD7 variants may be implicated in auditory or ocular involvement in KS cases with digenic/oligogenic inheritances. KS patients may also manifest skeletal abnormalities in addition to hypogonadotropic hypogonadism. Tailored management of sex hormones and osteoporosis therapies across life stages is essential for optimizing bone health in KS.

Tertiary lymphoid structure(TLS)is ectopic lymphoid-like organs induced under pathological conditions such as chronic inflammation and tumor microenvironment,which exhibits functional characteristics similar to secondary lymphoid or-gans and is commonly observed in various cancers.This review focuses on the biological characteristics of TLS in oral squamous cell carcinoma(OSCC),summarizing their components,formation mechanisms,and maturation stages within the tumor microen-vironment.It systematically analyzes the interrelationships between TLS features,including maturation levels,spatial distribu-tion,and cellular composition,and the progression and prognosis of OSCC.The review highlights the bidirectional interactions between TLS and microbial colonization in OSCC,as well as the impact of TLS on the efficacy of radiotherapy and chemotherapy and their potential predictive value for treatment responses.

OBJECTIVES: To develop an early atrial fibrillation (AF) risk prediction model based on large-scale electrocardiogram (ECG) data from the Chinese population. METHODS: The data of multiple ECG records of 30 383 patients admitted in the Chinese PLA General Hospital between 2009 and 2023 were randomly divided into the training set and the internal testing set in a 7:3 ratio. The predictive factors were selected based on the training set using univariate analysis, LASSO regression, and the Boruta algorithm. Cox proportional hazards regression was used to establish the ECG model and the composite model incorporating age, gender, and ECG model score. The discrimination power, calibration, and clinical net benefits of the models were evaluated using the area under the receiver operating characteristic curve (AUROC), calibration curves, and decision curves. RESULTS: The cohort included 51.1% male patients with a median age of the patients of 51 (36, 62) years and an AF incidence of 4.5% (1370/30 383). In the ECG model, the parameters related to the P wave and QRS complex were identified as significant predictors. In the testing set, the AUROC of the ECG model for predicting 5-year AF risk was 0.77 (95% CI: 0.74-0.80), which was increased to 0.81 (95% CI: 0.78-0.83) after incorporating age and gender, with a net reclassification improvement of 0.123 and an integrated discrimination improvement of 0.04 (P<0.05). The calibration curve of the model was close to the diagonal line. Decision curve analysis showed that the clinical net benefit of the composite model was higher than that of the ECG model across the majority of threshold probability. CONCLUSIONS The composite model incorporating quantitative ECG features during sinus rhythm, along with age and gender, can effectively predict AF risk in the Chinese population, thus providing a low-cost screening tool for early AF risk assessment and management.
Humans ; Atrial Fibrillation/epidemiology* ; Electrocardiography ; Middle Aged ; Male ; Female ; China/epidemiology* ; Proportional Hazards Models ; Adult ; Risk Factors ; Risk Assessment ; East Asian People

With the continuous advancement and innovation in medical equipment technology, the transition between high-flow oxygen therapy, non-invasive ventilation, and invasive ventilation can be easily achieved by adjusting the ventilation mode of ventilators. During the weaning phase for tracheotomized patients, it is necessary to disconnect the ventilator circuit, change the ventilator mode, and gradually extend the weaning time to achieve complete ventilator liberation. During the weaning process, due to patients' excessive dependence on the ventilator, there may be situations where respiratory endpoints and Y-connectors of the ventilator are reconnected for invasive ventilation. However, during the weaning process, the Y-connector and expiratory end connectors are exposed to the air, which cannot ensure the tightness of the ventilator circuit, easily increasing the probability of ventilator circuit contamination and subsequently the risk of ventilator-associated pneumonia (VAP). To overcome these issues, the research team of department of critical care medicine of Zhongda Hospital Southeast University has designed a ventilator circuit interface protective device for weaning and has obtained a National Utility Model Patent of China (ZL 2023 2 1453385.8). The main body of the protective device is a Y-connector plug, consisting of multiple components, including a sealing piece, a protective cover, a sealing plug, an interface 1 (connects with the patient's tracheal tube), an interface 2 (connects with the respiratory branch of the ventilator), and an interface 3 (connects with the expiratory branch of the ventilator), featuring a unique design and easy operation. During the patient's weaning training process, the interface 1 and interface 2 is disconnected from the patient's tracheal tube and respiratory branch, respectively. The interface 1 is plugged with a stopper, and the interface 2 is covered with a protective cover to ensure the tightness of the expiratory branch and Y-connector of the ventilator. During the period when the patient is using the ventilator, the protective cover and plug are removed, and connecting them together ensures the tightness of the device itself, reducing the incidence of VAP caused by ventilator circuit contamination, avoiding nosocomial infections, and shortening the prolonged use of invasive ventilation, increased complication rate, extended hospital stay, and increased medical cost associated with weaning.
Humans ; Ventilator Weaning/methods* ; Equipment Design ; Ventilators, Mechanical ; Respiration, Artificial/instrumentation* ; Pneumonia, Ventilator-Associated/prevention & control*

OBJECTIVE: To explore the genetic basis of a child with Chanarin-Dorfman syndrome (CDS) manifesting as ichthyosis. METHODS: A child who had presented at Henan Provincial People's Hospital in June 2023 was selected as study subject. Clinical data of the child was collected. Peripheral blood samples were collected from the child and her parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing. Relevant literature was searched in databases using key words "Chanarin-Dorfman syndrome" and "ABHD5 gene". The clinical manifestations and variant sites of previously reported cases were compiled and analyzed for correlations. This study was approved by the Medical Ethics Committee of Henan Provincial People's Hospital [Ethics No.: (2019) Jun Shen No. (134)]. RESULTS: WES revealed that the child has harbored compound heterozygous variants of the ABHD5 gene, namely c.99_103del (p.H34*) in exon 2 and c.770C>G (p.P257R) in exon 5, which were inherited from her father and mother, respectively. Bioinformatic analysis suggested that both variants were pathogenic. Literature review indicated that the affected organs in CDS are ranked from most to least including liver, eyes, ears, nervous system, muscles, spleen, and kidneys. The c.594insC and c.594dupC variants are most common. CONCLUSION The identification of the two novel ABHD5 gene variants has enriched the mutation spectrum of CDS. c.594insC or c.594dupC are hotspot mutations of this disease, albeit with no definitive correlation between the genotype and phenotype.
Humans ; Female ; Ichthyosiform Erythroderma, Congenital/genetics* ; Lipid Metabolism, Inborn Errors/genetics* ; Phenotype ; 1-Acylglycerol-3-Phosphate O-Acyltransferase/genetics* ; Mutation ; Muscular Diseases/genetics* ; Exome Sequencing ; Child ; Male ; Child, Preschool

Tertiary lymphoid structure(TLS)is ectopic lymphoid-like organs induced under pathological conditions such as chronic inflammation and tumor microenvironment,which exhibits functional characteristics similar to secondary lymphoid or-gans and is commonly observed in various cancers.This review focuses on the biological characteristics of TLS in oral squamous cell carcinoma(OSCC),summarizing their components,formation mechanisms,and maturation stages within the tumor microen-vironment.It systematically analyzes the interrelationships between TLS features,including maturation levels,spatial distribu-tion,and cellular composition,and the progression and prognosis of OSCC.The review highlights the bidirectional interactions between TLS and microbial colonization in OSCC,as well as the impact of TLS on the efficacy of radiotherapy and chemotherapy and their potential predictive value for treatment responses.

Objective:To analyze the clinical features and genetic sequencing results of a patient with Kallmann syndrome(KS) carrying digenic mutations who initially presented with osteoporosis, and to enhance awareness of this disease phenotype.Methods:Clinical data were collected, and peripheral blood DNA was extracted for whole-exome sequencing. Relevant literature was reviewed to summarize phenotypes associated with digenic/oligogenic variants involving CHD7.Results:The patient exhibited back pain, delayed development of secondary sexual characteristics, and hyposmia. Laboratory tests revealed reduced sex hormones and gonadotropin levels, while pituitary imaging was unremarkable. Bone mineral density imaging confirmed osteoporosis, and thoracolumbar X-rays showed multiple vertebral compression fractures. Genetic analysis identified a heterozygous splice-site mutation in CHD7(c.2698-1G>T) and a heterozygous missense mutation in WDR11(c.439G>A: p.D147N). According to ACMG criteria, the CHD7 mutation was classified as pathogenic, while the WDR11 variant was defined as a variant of uncertain significance(VUS). Literature review indicated that 40% of KS patients with digenic/oligogenic variants involving CHD7 presented with hearing or ocular abnormalities.Conclusion:This study reports a novel CHD7 mutation and a previously undescribed digenic combination of CHD7 and WDR11 variants in a KS patient. CHD7 variants may be implicated in auditory or ocular involvement in KS cases with digenic/oligogenic inheritances. KS patients may also manifest skeletal abnormalities in addition to hypogonadotropic hypogonadism. Tailored management of sex hormones and osteoporosis therapies across life stages is essential for optimizing bone health in KS.

Objective:To explore the clinical effects of combined surgical and high-frequency electro-acupuncture treatment for aesthetic restoration in children with eyelid split nevus.Methods:A retrospective analysis was conducted on the medical records of children treated for eyelid split nevus in the Plastic Surgery Department of the First Affiliated Hospital of Army Medical University from January 2019 to December 2023. All cases underwent combined surgical excision and high-frequency electro-acupuncture vaporization. Surgical removal was used for nevi with significant pigmentation and deep involvement, and high-frequency electro-acupuncture was simultaneously applied to vaporize residual superficial pigmentation layer by layer based on the depth of the pigmentation. The wounds were repaired using either direct suturing or local flap transfer. Postoperative management included the application of growth factors and anti-scar treatments. Postoperative healing, adverse effects, and pigment clearance rate (categorized as healed, significant effect, improved, or ineffective) were observed by comparsons of the pre-treatment and the last follow-up photographs. Eyelid function, appearance, and scar hypertrophy were assessed during follow-up, and family satisfaction (categorized as very satisfied, satisfied, or dissatisfied) was surveyed via telephone.Results:Five children were included, with one male and four females aged between 2 and 10 years (average 7 years). Pigment areas ranged from 0.3 cm × 0.5 cm to 1.7 cm × 1.1 cm, with surgical excision areas from 0.3 cm × 0.4 cm to 1.5 cm × 1.1 cm. All children had good wound healing without complications such as infection, flap ischemic necrosis, wound dehiscence or bleeding. The pigment clearance rate was over 90%, achieving a healed effect. During the follow-up of 14 to 48 months (average 24.2 months), all patients had normal eyelid function without difficulties in opening or closing the eyes, or epiphora. The eyelid appearance was satisfactory without asymmetry, ptosis, ectropion or hypertrophic scars. The aesthetic outcomes and functionality of the eyelids were ideal, and satisfaction was generally rated as very satisfied.Conclusion:Surgical removal combined with high-frequency electro-acupuncture is beneficial for preserving aesthetic appearance while pigmentation in children with eyelid split nevus is removed, offering a new treatment option.

Objective:To explore the clinical effects of combined surgical and high-frequency electro-acupuncture treatment for aesthetic restoration in children with eyelid split nevus.Methods:A retrospective analysis was conducted on the medical records of children treated for eyelid split nevus in the Plastic Surgery Department of the First Affiliated Hospital of Army Medical University from January 2019 to December 2023. All cases underwent combined surgical excision and high-frequency electro-acupuncture vaporization. Surgical removal was used for nevi with significant pigmentation and deep involvement, and high-frequency electro-acupuncture was simultaneously applied to vaporize residual superficial pigmentation layer by layer based on the depth of the pigmentation. The wounds were repaired using either direct suturing or local flap transfer. Postoperative management included the application of growth factors and anti-scar treatments. Postoperative healing, adverse effects, and pigment clearance rate (categorized as healed, significant effect, improved, or ineffective) were observed by comparsons of the pre-treatment and the last follow-up photographs. Eyelid function, appearance, and scar hypertrophy were assessed during follow-up, and family satisfaction (categorized as very satisfied, satisfied, or dissatisfied) was surveyed via telephone.Results:Five children were included, with one male and four females aged between 2 and 10 years (average 7 years). Pigment areas ranged from 0.3 cm × 0.5 cm to 1.7 cm × 1.1 cm, with surgical excision areas from 0.3 cm × 0.4 cm to 1.5 cm × 1.1 cm. All children had good wound healing without complications such as infection, flap ischemic necrosis, wound dehiscence or bleeding. The pigment clearance rate was over 90%, achieving a healed effect. During the follow-up of 14 to 48 months (average 24.2 months), all patients had normal eyelid function without difficulties in opening or closing the eyes, or epiphora. The eyelid appearance was satisfactory without asymmetry, ptosis, ectropion or hypertrophic scars. The aesthetic outcomes and functionality of the eyelids were ideal, and satisfaction was generally rated as very satisfied.Conclusion:Surgical removal combined with high-frequency electro-acupuncture is beneficial for preserving aesthetic appearance while pigmentation in children with eyelid split nevus is removed, offering a new treatment option.