To investigate the association between the systemic inflammatory response index (SIRI) and lung cancer prevalence based on the National Health and Nutrition Examination Survey (NHANES) database.

This study analyzed the clinical and laboratory data of 3 children diagnosed with mitochondrial disease-associated primary adrenal insufficiency (PAI) at the Guangzhou Women and Children′s Medical Center, Guangzhou Medical University from October 2018 to November 2023.All patients were normal at birth but gradually developed symptoms and were diagnosed with PAI between the ages of 1 year and 1 month and 7 years and 3 months.The children presented typical clinical symptoms of PAI, including skin and mucosal hyperpigmentation (3 cases), electrolyte disturbances (3 cases), and hypoglycemia (2 cases), as well as multisystem abnormalities related to mitochondrial disease, including recurrent infections, growth retardation, cachexia, and hyperlactatemia.Genetic testing revealed significant single deletions in mitochondrial DNA in all patients: Patient 1: m.11219_15954del, Patient 2: m.8483_13459del, and Patient 3: m.8649_16084del.Treatment with Hydrocortisone acetate replacement therapy improved the electrolyte disturbances and hypoglycemia, but issues with recurrent infections, growth retardation, and cachexia persisted.This study suggests that in clinical practice, the possibility of mitochondrial disease should be highly suspected when PAI patients present with multisystem abnormalities, especially in conjunction with hyperlactatemia.

Pulmonary nodules(PNs),a critical imaging indicator for early lung cancer screening,require deeper mechanistic explo-ration of their malignant transformation.Current Western medicine strategies—primarily surveillance—suffer from delayed interven-tion,while traditional Chinese medicine(TCM)theories(e.g.,"phlegm-blood stasis binding")inadequately explain the dynamic pro-gression of malignancy.Integrating You Yi's theory of"where there is mass hardness,there must be latent yang"with modern research on PN malignant transformation,this study proposes a novel pathogenic mechanism of"latent yang as cause,mass hardness as effect":Depressed latent yang drives pro-tumorigenic microenvironments(e.g.,immunosuppression,hypoxic stress,chronic inflammation),leading to the coagulation of phlegm,stasis,fire,and toxins into cancer toxin.Based on this framework,a core therapeutic principle of"dispersing latent yang and intercepting malignant transition in stages"was established,providing a new paradigm for TCM-based early intervention against PN malignancy.

Pulmonary nodules(PNs),a critical imaging indicator for early lung cancer screening,require deeper mechanistic explo-ration of their malignant transformation.Current Western medicine strategies—primarily surveillance—suffer from delayed interven-tion,while traditional Chinese medicine(TCM)theories(e.g.,"phlegm-blood stasis binding")inadequately explain the dynamic pro-gression of malignancy.Integrating You Yi's theory of"where there is mass hardness,there must be latent yang"with modern research on PN malignant transformation,this study proposes a novel pathogenic mechanism of"latent yang as cause,mass hardness as effect":Depressed latent yang drives pro-tumorigenic microenvironments(e.g.,immunosuppression,hypoxic stress,chronic inflammation),leading to the coagulation of phlegm,stasis,fire,and toxins into cancer toxin.Based on this framework,a core therapeutic principle of"dispersing latent yang and intercepting malignant transition in stages"was established,providing a new paradigm for TCM-based early intervention against PN malignancy.

This study analyzed the clinical and laboratory data of 3 children diagnosed with mitochondrial disease-associated primary adrenal insufficiency (PAI) at the Guangzhou Women and Children′s Medical Center, Guangzhou Medical University from October 2018 to November 2023.All patients were normal at birth but gradually developed symptoms and were diagnosed with PAI between the ages of 1 year and 1 month and 7 years and 3 months.The children presented typical clinical symptoms of PAI, including skin and mucosal hyperpigmentation (3 cases), electrolyte disturbances (3 cases), and hypoglycemia (2 cases), as well as multisystem abnormalities related to mitochondrial disease, including recurrent infections, growth retardation, cachexia, and hyperlactatemia.Genetic testing revealed significant single deletions in mitochondrial DNA in all patients: Patient 1: m.11219_15954del, Patient 2: m.8483_13459del, and Patient 3: m.8649_16084del.Treatment with Hydrocortisone acetate replacement therapy improved the electrolyte disturbances and hypoglycemia, but issues with recurrent infections, growth retardation, and cachexia persisted.This study suggests that in clinical practice, the possibility of mitochondrial disease should be highly suspected when PAI patients present with multisystem abnormalities, especially in conjunction with hyperlactatemia.

Objective To investigate the clinical manifestations,molecular genetics and gonadal pathol-ogy characteristics of patients with disorders of sex development(DSD),and to summarize the clinical experi-ence of identifying rare diseases from common symptoms.Methods The clinical data of 416 patients with DSD diagnosed and treated in the multidisciplinary center of DSD of Guangzhou Women and Children's Medical Cen-ter from May 2018 to August 2023 were retrospectively analyzed,summarized and discussed.Results Accord-ing to chromosome karyotype,416 cases of DSD were classified into three types:92 cases(22.1％)of abnormal sex chromosome karyotype,285 cases(68.5％)of 46,XY karyotype and 39 cases(9.4％)of 46,XX karyotype.Among the 92 patients with abnormal sex chromosome karyotype,59 cases were raised as males,18 cases(30.5％)complained of short penis with hypospadias and cryptorchidism.The most common karyotype was 45,X/46,XY(58 cases,63.0％).Among the 285 patients with 46,XY karyotype,238 cases were raised as males,and 63 cases(26.5％)complained of short penis and hypospadias;47 cases were raised as females,and 13 ca-ses(27.7％)complained of inguinal mass.A total of 216 patients with 46,XY karyotype were subjected to whole exome gene detection,and 155 cases(71.8％)were found to have molecular pathogenesis with the clinical phe-notype.Among the 39 patients with 46,XX karyotype,19 cases were raised as males,and 8 cases(42.1％)com-plained of short penis and hypospadias.In the 18 cases of gonad biopsy,17 cases showed testicular tissue in go-nads.Whole exome sequencing was performed in 14 cases.NR5A1 gene heterozygous mutation,SRY gene muta-tion and SOX3 gene mutation were found in 2 cases,respectively(14.3％).Twenty cases were raised as females,and 14 cases(70.0％)complained of clitoral hypertrophy.Gonad biopsy was performed in 8 cases,with 7 cases of ovotestis(87.5％)and 1 case of NR5A1 gene heterozygous mutation(14.3％).Conclusions The etiologies of DSD are complex and diverse,and the clinical manifestations are various,which can be manifested as hypospa-dias,micropenis,cryptorchidism and other common symptoms of the urinary system.Different etiologies have dif-ferent treatment options.Therefore,chromosome karyotype,molecular genetic testing and gonadal pathology can be used to clarify the cause of disease,especially for rare diseases,improve the detection rate,reduce the rate of missed diagnosis,and ensure reasonable treatment,especially sex selection.

Objective:To investigate the effectiveness of preeclampsia risk prediction models based on maternal risk factors during the first trimester in a local population.Methods:This was a diagnostic study. Pregnant women who underwent prenatal examination in People′s Hospital of Rizhao from May 2019 to May 2022 and had risk factors for preeclampsia were enrolled at 11-13 +6 weeks gestation, and were divided into preterm preeclampsia group, term preeclampsia group and non-preeclampsia group according to the occurrence and the gestational week. Baseline clinical data were collected. The effectiveness of different models in predicting preeclampsia risk was evaluated using receiver operating characteristic (ROC) curves. Results:Among the 559 pregnant women enrolled, 78(14.0%) had preeclampsia, including 35(6.3%) with preterm preeclampsia (preterm preeclampsia group), 43 (7.7%) with term preeclampsia (term preeclampsia group), and 481 (86.0%) without preeclampsia (non-preeclampsia group).The most effective model for predicting preterm preeclampsia in the first trimester was maternal risk factor+mean arterial pressure (MAP)+serum placental growth factor (PLGF)+uterine artery pulse index (UTPI). The area under ROC curve was 0.805, and the sensitivity was 56.6% with a false-positive rate of 10%; the most effective model for predicting term preeclampsia and preeclampsia was maternal risk factor+MAP+UTPI. The area under ROC curve was 0.777, and the sensitivity was 52.6% and 53.5% with a false-positive rate of 10%.Conclusion:The combined predicting strategy for preterm preeclampsia based on maternal risk factors in the first trimester maybe effective among our population.

Objective:To evaluate the role of transient receptor potential vanilloid receptor 1 (TRPV1)/nuclear factor-κB (NF-κB) signaling pathway in dexmedetomidine-induced alleviation of ventilator-induced lung injury (VILI) in rats.Methods:One hundred clean-grade healthy male Sprague-Dawley rats, weighing 270-320 g, aged 4-5 months, were divided into 5 groups ( n=20 each) using a random number table method: control group (group C), VILI group (group V), AMG9810 group (group A), dexmedetomidine group (group D), and dexmedetomidine + RTX group (group DR). VILI model was prepared by mechanical ventilation with a tidal volume of 40 ml/kg for 4 h. In group A, TRPV1 inhibitor AMG9810 30 mg/kg was intraperitoneally injected at 1 h before mechanical ventilation.Dexmedetomidine 5.0 μg/kg was intravenously infused at 20 min before mechanical ventilation, and dexmedetomidine was intravenously infused at the rate of 5.0 μ g·kg -1·h -1 during ventilation in group D and group DR.In group DR, RTX 70 μ g/kg was intraperitoneally injected for 3 consecutive days before mechanical ventilation.At 4 h of mechanical ventilation, the concentrations of interleukin-1beta (IL-1β), tumor necrosis factor-alpha (TNF-α) and IL-6 in bronchoalveolar lavage fluid (BALF) were detected, oxygenation index (OI) and wet/dry lung weight (W/D) ratio were measured, the histopathological changes of lung tissues were observed, and lung injury was assessed and scored.The expression of TRPV1 and NF-κB in lung tissues was detected by Western blot, and real-time polymerase chain reaction was used to detect the expression of TRPV1 and NF-κB mRNA. Results:Compared with group C, the concentrations of IL-1β, TNF-α and IL-6 in BALF were significantly increased, OI was decreased, the W/D ratio and lung injury scores were increased, and the expression of TRPV1 and NF-κB protein and mRNA was up-regulated in group V ( P<0.05). Compared with group V, the concentrations of IL-1β, TNF-α and IL-6 in BALF were significantly decreased, OI was increased, the W/D ratio and lung injury scores were decreased, and the expression of TRPV1 and NF-κB protein and mRNA was down-regulated in A, D and DR groups ( P<0.05). Compared with group D, the concentrations of IL-1β, TNF-α and IL-6 in BALF were significantly increased, OI was decreased, the W/D ratio and lung injury scores were increased, and the expression of TRPV1 and NF-κB protein and mRNA was up-regulated in group DR ( P<0.05). Conclusions:The mechanism by which dexmedetomidine alleviates VILI is partially related to inhibition of the activation of TRPV1/NF-κB signaling pathway and inhibition of the inflammatory responses in lung tissues of rats.

Objective:To investigate the gastrointestinal characteristics of children with glycogen storage disease (GSD) type Ⅰ.Methods:From June to December 2020, clinical data of children aged 0-18 years with GSD type Ⅰ diagnosed by genetic testing from all provinces and cities in China, including Beijing, Shanghai, Guangdong, Guangxi, Hunan, Sichuan, Yunnan, Guizhou, Henan, Hebei, Zhejiang, Jiangsu, Shaanxi, Anhui and Heilongjiang, were collected.A cross-sectional questionnaire survey was used for data analysis.Results:A total of 52 questionnaires were obtained, and 43 eligible patients aged 1-18 years were recruited, involving 30 males (69.8%) and 13 females (30.2%). Among them, 9 patients were GSD type Ⅰa and 34 patients were type Ⅰb.Seven patients (16.3%) had siblings who were also diagnosed as GSD type Ⅰb.The gastrointestinal manifestations included recurrent diarrhea in 26 patients (60.5%), perianal lesions (erythema, ulcer, abscess) in 25 patients (58.1%), abdominal pain/distension in 24 patients (55.8%), nausea/vomiting in 22 patients (51.1%), mucus/bloody stool in 14 patients (32.6%). Thirty-three patients (76.7%) had recurrent stomatitis and oral ulcer, and 38 patients (88.0%) had at least two gastrointestinal symptoms.White blood cell (WBC) count was <4.0×10 9/L in 24 patients (55.8%), and absolute neutrophils count was <1.5×10 9/L in 19 patients (44.2%), which was <0.5×10 9/L in 10 patients (23.3%). WBC count and absolute neutrophils count both decreased in children with GSD type Ⅰb.Platelets were >300×10 9/L in 30 patients (69.8%). Eighteen patients with GSD type Ⅰb underwent gastroscopy and colonoscopy, and 16 patients were diagnosed with GSD-related inflammatory bowel disease.Thirty-nine patients (90.7%) were fed with raw corn starch, 3 patients (6.9%) with maltodextrin and 19 patients (44.2%) with special enteral formula.Twenty patients with type Ⅰb GSD needed repeated antibiotic treatment due to neutropenia and neutrophil dysfunction.Fifteen patients were treated with granulocyte colony-stimulating factor (G-CSF). Among them, 11 patients were diagnosed as GSD-related bowel disease. Conclusions:Children with GSD type Ⅰ commonly have gastrointestinal symptoms, especially those with GSD type Ⅰb.The incidence of GSD-related inflammatory bowel disease is high in those children.G-CSF treatment cannot prevent the development of GSD-associated inflammatory bowel disease and its pathogenesis needs further research.Diet therapy is the first-line treatment of GSD type Ⅰ.Multidisciplinary management is helpful to reduce the complications and improve the quality of life in children with GSD type Ⅰ.

Background::Leukocyte telomere length shortening is a characteristic of premature senescence, a process that can be accelerated by oxidative stress. In general, patients with end-stage renal disease undergoing regular hemodialysis (HD) are repeatedly exposed to oxidative stress. Patients undergoing HD tend to have cardiovascular diseases associated with oxidative stress and inflammation. Therefore, we assumed that telomere length is associated with HD vintage and the degree of vascular calcification.Methods::A total of 144 patients undergoing regular HD before kidney transplantation and 62 patients on hemodialysis, but not undergoing kidney transplantation, were enrolled. We measured common laboratory values, such as calcium, phosphate, and hemoglobin levels, and assessed the degree of vascular calcification in the patients. The leukocyte telomere length was measured using reverse transcription polymerase chain reaction, and Spearman correlation was used for correlation analysis.Results::The leukocyte telomere length was negatively associated with age (rho = -0.306, P <0.01); it was shorter in middle-aged patients than in young patients (13.48 ± 4.80 vs. 15.86 ± 4.51, P < 0.01). The telomere length was significantly different among patients aged 52-74 years in groups with different HD vintages. Additionally, the telomere length was positively associated with serum hemoglobin (Hb) levels in all patients (rho = 0.290, P < 0.01). There was a significant difference among patients divided into three groups according to the degree of anemia (17.09 ± 5.64 vs. 14.40 ± 4.07 vs. 13.99 ± 3.95, P < 0.01). Further, a significant difference was observed in the telomere length among patients with different degrees of vascular calcification (16.79 ± 4.91 vs. 13.61 ± 2.82 vs. 14.62 ± 3.63 vs. 10.71 ± 3.74, P < 0.01). The telomere length was shorter in the patients on hemodialysis who did not receive a kidney transplant than in the surgical patients (8.12 ± 1.83 vs. 14.33 ± 4.63, P < 0.01). Conclusion::This study demonstrated that the telomere length was significantly correlated with HD vintage in patients of a certain age group. The telomere length was shorter in patients on hemodialysis who matched for age and dialysis vintage with kidney transplant patients. It was also associated with vascular calcification and serum Hb levels in all patients undergoing HD.