The clinical data, laboratory test, and gene mutations were collected from a family with pseudohypoaldosteronism type II(PHA2). The proband, aged 1 year and 7 months, presented with hyperkalemia(6.69 mmol/L; reference range 3.5-5.3 mmol/L), blood pressure of 110/68 mmHg(normal<106/61 mmHg, 1 mmHg=0.133 kPa), blood chloride of 111.5 mmol/L(reference 99-110 mmol/L), blood HCO 3- of 17.1 mmol/L(reference 22-29 mmol/L), estimated glomerular filtration rate of 128.5 mL·min -1·(1.73 m 2) -1[>90 mL·min -1·(1.73 m 2) -1], and blood renin concentration of 0.30 μIU/mL(reference 4.2-45.6 μIU/mL). The mother and maternal grandfather also exhibited normal renal function with hyperkalemia, hypertension, hyperchloremia, metabolic acidosis, and low renin. Genetic testing revealed a heterozygous missense mutation(c.1685A>G, p. E562G) in exon 7 of the no-lysine kinase 4(WNK4) gene. Treatment with hydrochlorothiazide was effective. Literature review comparing this E562G pedigree with other WNK4 variants suggested clinical heterogeneity of WNK4 mutations. For unexplained hyperkalemia, especially with concurrent hypertension, PHA2 should be considered early for genetic screening to prevent misdiagnosis or delayed diagnosis.

China prospective multicenter birth cohort (Prospective Omics Health Atlas birth cohort, POHA birth cohort) study was officially launched in 2022. This study, in collaboration with 12 participating units, aims to establish a high-quality, multidimensional cohort comprising 20 000 naturally conceived families and assisted reproductive families. The study involves long-term follow-up of parents and offspring, with corresponding biological samples collected at key time points. Through multi-omics testing and analysis, the study aims to conduct multi-omics big data research across the entire maternal and infant life cycle. The goal is to identify new biomarkers for maternal and infant diseases and provide scientific evidence for risk prediction related to maternal diseases and neonatal health.

Background: Ferroptosis, which is caused by an iron-dependent accumulation of lipid hydroperoxides, is a type of cell death linked to diabetic kidney disease (DKD). Previous research has shown that fatty acid binding protein 4 (FABP4) is involved in the regulation of ferroptosis in diabetic retinopathy. The present study was constructed to explore the role of FABP4 in the regulation of ferroptosis in DKD. Methods: We first detected the expression of FABP4 and proteins related to ferroptosis in renal biopsies of patients with DKD. Then, we used a FABP4 inhibitor and small interfering RNA to investigate the role of FABP4 in ferroptosis induced by high glucose in human renal proximal tubular epithelial (HG-HK2) cells. Results: In kidney biopsies of DKD patients, the expression of FABP4 was elevated, whereas carnitine palmitoyltransferase-1A (CP-T1A), glutathione peroxidase 4, ferritin heavy chain, and ferritin light chain showed reduced expression. In HG-HK2 cells, the induction of ferroptosis was accompanied by an increase in FABP4. Inhibition of FABP4 in HG-HK2 cells changed the redox state, sup-pressing the production of reactive oxygen species, ferrous iron (Fe2+), and malondialdehyde, increasing superoxide dismutase, and reversing ferroptosis-associated mitochondrial damage. The inhibition of FABP4 also increased the expression of CPT1A, reversed lipid deposition, and restored impaired fatty acid β-oxidation. In addition, the inhibition of CPT1A could induce ferroptosis in HK2 cells. Conclusion Our results suggest that FABP4 mediates ferroptosis in HG-HK2 cells by inhibiting fatty acid β-oxidation.

Infectious bone defect is bone defect with infection or as a result of treatment of bone infection. It requires surgical intervention, and the treatment processes are complex and long, which include bone infection control,bone defect repair and even complex soft tissue reconstructions in some cases. Failure to achieve the goals in any step may lead to the failure of the overall treatment. Therefore, infectious bone defect has been a worldwide challenge in the field of orthopedics. Conventionally, sequestrectomy, bone grafting, bone transport, and systemic/local antibiotic treatment are standard therapies. Radical debridement remains one of the cornerstones for the management of bone infection. However, the scale of debridement and the timing and method of bone defect reconstruction remain controversial. With the clinical application of induced membrane technique, effective infection control and rapid bone reconstruction have been achieved in the management of infectious bone defect. The induced membrane technique has attracted more interests and attention, but the lack of understanding the basic principles of infection control and technical details may hamper the clinical outcomes of induced membrane technique and complications can possibly occur. Therefore, the Chinese Orthopedic Association organized domestic orthopedic experts to formulate An evidence-based clinical guideline for the treatment of infectious bone defect with induced membrane technique ( version 2023) according to the evidence-based method and put forward recommendations on infectious bone defect from the aspects of precise diagnosis, preoperative evaluation, operation procedure, postoperative management and rehabilitation, so as to provide useful references for the treatment of infectious bone defect with induced membrane technique.

Bronchial asthma is a common chronic respiratory disease in childhood.Lung function test is helpful for the diagnosis, treatment and dynamic monitoring of patients with asthma.Impulse oscillometry(IOS)has received more and more attention in the diagnosis and treatment of bronchial asthma because of its relatively simple operation requirements and the uniqueness of airway function detection.However, the clinical significance of IOS examination in clinical practice is not yet completely clear, and there is no consensus on clinical application.This article makes a review of IOS examination in the diagnosis, airway hyperreactivity test, asthma control and treatment of asthma in children, in order to help clinicians to make rational use of IOS examination.

Objective:To summarize the clinical characteristics of patients with coronavirus disease 2019 (COVID-19) infected with Delta variant, so as to provide further references for clinical diagnosis and treatment.Methods:A real-world study was conducted to analyze the characteristics of 166 COVID-19 patients infected with Delta variant at Guangzhou Eighth People’s Hospital, Guangzhou Medical University.Results:The study enrolled 5 asymptomatic cases, 123 non-severe cases (mild and moderate type), and 38 severe cases (severe and critical type). Among these patients, 69 (41.6%) were male and 97 (58.4%) were female, with a mean age of 47.0±23.5 years. Thirty-nine cases (23.5%) had received 1 or 2 doses of inactivated vaccine. The incidence of severe COVID-19 cases was 7.7% in 2-doses vaccinated patients, which was lower than that of 11.5% in 1-dose and 26.8% in unvaccinated patients. The proportion of severe cases in 2 dose-vaccinated patients was 7.7%, which was lower than that of 11.5% in 1-dose vaccinated patients and 26.8% in unvaccinated patients, but the difference was not significant ( P>0.05). The most common clinical symptom was fever (134 cases, 83.2%), and 39.1% of cases presented with high-grade fever (≥39 °C); other symptoms were cough, sputum, fatigue, and xerostomia. The proportion of fever in severe cases was significantly higher than that of non-severe cases (97.4% vs. 76.4%, P<0.01). Similarly, the proportion of severe cases with high peak temperature (≥39 ℃) () was also higher than that of non-severe cases (65.8% vs. 30.9%, P<0.01). The median minimal Cycle threshold (Ct) values of viral nucleic acid N gene and ORFlab gene were 20.3 and 21.5, respectively, and the minimum Ct values were 11.9 and 13.5, respectively. Within 48 h of admission, 9.0% of cases presented with decreased white blood cell counts, and 52.4% with decreased lymphocyte counts. The proportions of increased C-reactive protein, serum amyloid A, interleukin 6, and interleukin 10 were 32.5%, 57.4%, 65.3%, and 35.7%, respectively. The proportions of elevated C-reactive protein, serum amyloid A and interleukin-6 in severe cases were significantly higher than those in non-severe cases ( P<0.01). Logistic regression analysis showed that older age and higher peak temperature were associated with a higher likelihood of severe cases ( OR>3, 95% CI: 2-7, P<0.01). In terms of treatment, traditional Chinese medicine (TCM) was used in 97.6% of non-severe cases and 100% in severe cases. Other treatments included respiratory and nutritional support, immunotherapy (such as neutralizing antibodies and plasma of recovered patients). The median times from admission to progression to severe cases, of fever clearance, and of nucleic acid conversion were 5 days, 6 days and 19 days, respectively. No deaths were reported within 28 days. Conclusions:The symptoms of Delta variant infection in Guangzhou are characterized by a high proportion of fever, high peak temperature, long duration of fever, high viral load, a long time to nucleic acid conversion, and a high incidence of severe cases. The severe cases exhibit a higher percentage of elderly patients, a longer duration of fever and have a higher fever rate and a higher hyperthermia rate than non-severe cases. Age and hyperthermia are independent risk factors for progression to severe disease. The combination of TCM and Western medicine can control the progression of the disease effectively.

Objective To investigate the clinical target volume (CTV)-planned target volume (PTV) setup margins during intensity-modulated radiotherapy (IMRT) for cervical cancer patients with different body mass index (BMI),aiming to provide reference for precise individual therapy.Methods Forty patients diagnosed with cervical cancer undergoing IMRT in Cancer Hospital of Fudan University between March and September 2017 were recruited and assigned into the BMI ≤ 18.4,18.5-23.9,24.0-27.9 and ≥ 28 kg/m2 groups according to the BMI classification criteria proposed by National Health and Family Planning Commission (NHFPC) of the People's Republic of China.Assisted with the bladder volume measurement device,9 cycles of kilo-voltage cone beam computed tomography (CBCT) images were subject to online registration and imaging analysis.CTV-PTV setup margins were calculated based on the formula of MPTV =2.5∑+0.7σamong four groups.Single factor variance analysis was performed.LSD test was utilized for two-group comparison.Results Among four groups,the CTV-PTV setup margins in the x,y and z directions were (6.87 mm,6.06 mm,8.49 mm),(3.13 mm,3.02 mm,3.14 mm),(4.70 mm,4.86 mm,5.31 mm) and (7.63 mm,8.28 mm,8.54 mm),respectively (P=0.038,0.048 and 0.004).Conclusions The setup errors in the BMI ≤ 18.4 and ≥28 kg/m2 groups are significantly larger compared with those in the remaining groups Consequently,CTV-PTV setup margins should be enlarged to certain extent for patients with BMI≤ 18.4 and ≥≥28 kg/m2.

Objective To detect the expression of Th17 pathway-related genes in patients with syphilis serofast reaction and to investigate the mechanism of Th17 cells in syphilis serofast reaction. Meth-ods Peripheral blood samples were collected from patients with syphilis serofast reaction ( n=8 ) , patients who were syphilis-seronegative after treatment (n=8) and healthy subjects (n=8). Total RNA was extrac-ted from each blood sample and then reversely transcribed into cDNA. PCR-Array analysis was performed to quantify the expression levels of Th17 pathway-related genes. Results The expression levels of genes with a fold change >2 (up or down regulated) were defined as differentially expressed. (1) Compared with the control group, the patients with syphilis serofast reaction showed increased expression of genes encoding fork-head box protein 3 (Foxp3) and IL-10, but decreased expression of genes encoding C-C motif chemokine 22 (CCL22), colony stimulating factor 2 (CSF2), CSF3, chemokine (C-X-C motif) ligand 6 (CXCL6), IL-17A, IL-17D, IL-21, IL-23R, IL-9, interferon regulatory factor 4 (IRF4), RAR-related orphan receptorα( RORα) , RAR-related orphan receptor γ ( RORγ) and signal transducer and activator of transcription 3 (STAT3). (2) Compared with the seronegative syphilis group, the expression levels of genes encoding Foxp3 and IL-10 in patients with syphilis serofast reaction were up-regulated, while the expression of genes encoding CCL22, CSF2, CSF3, IL-17A, IL-21, IL-23R, IRF4, RORγ and STAT3 were down-regulated. (3) The expression levels of genes encoding CXCL6 and IL-9 in seronegative syphilis group were lower than those in control group. Conclusion The abnormal expression of Th17 pathway-related genes might relate to the pathogenesis of serofast state of syphilis.

Objective To investigate the role of N-methyl-D-aspartate receptor one(NMDA-R1 )in visceral hypersensitivity forming of Sprague-Dawley rat model induced by transient Trichinella spiralis intestinal infection.Methods Forty male Sprague-Dawley rats were divided into healthy control group,visceral hypersensitivity group,0.9％ NaCl group and MK-801 group.The rats in visceral hypersensitivity group,0.9％NaCl group and MK-801 group were given Trichinella spiralis to establish infection model.After eight weeks,the rats in 0.9％NaCl group and MK-801 group were given 0.9 ％ NaCl and MK-801 respectively.The abdominal muscular electrical activity of each group was observed under 20,40,60 and 80 mm Hg (1 mm Hg=0.133 kPa) colorectal distension pressure.After abdominal muscular electrical activity recorded,rats were sacrificed and the colon specimens were collected.The expression of NMDA-R1 at protein level was detected by Western blot.The data were analyzed by LSD test and Bivariate correlation.Results There was significant correlation between areas under curve (AUC) of abdominal muscular electrical activity electromyography and distension pressure in healthy control group,visceral hypersensitivity group,0.9％ NaCl group and MK-801 group (r=0.823,0.618,0.913,0.889 respectively,all P＜0.01).Under 20,40,60,80 mm Hg distension pressure,there was significant difference in AUC between MK-801 group and visceral hypersensitivity group (LSD test,all P＜0.05).The AUC of MK-801 group was lower than that of healthy control group,but there was significant difference (LSD test,P =0.029) only when distension pressure was at 80 mm Hg.The integral optical density value of NMDA-R1 protein of MK-801 group (1.238 ±0.210) was significantly lower than that of visceral hypersensitivity group (2.231±0.450) and 0.9％NaCl group (2.104±0.220) (LSD teat,P=0.025,0.046).The JA value of NMDA-R1 protein of visceral hypersensitivity group and 0.9％NaCl group was significantly higher than that of healthy control group (LSD test,P =0.007,0.014).Conclusion The visceral hypersensitivity forming was correlated with the high expression of NMDA-R1,and it could be adjusted by inhibiting NMDA-R1 expression in enteric nervous system.

OBJECTIVE: To determine the value of high-resolution three dimensional contrast enhanced magnetic resonance venography (3D CE-MRV) in evaluating sinus meningiomas in the region of interest (ROI). METHODS: Twenty patients with sinus meningiomas underwent 3D CE-MRV with ROI preoperatively (including 9 patients postoperatively). We observed the changes of venous sinus adjacent the tumor. RESULTS: All patients received high-resolution image, the single acquisition time was about 11.4 s, and the voxel value was about 1.3 mm3. The images of 20 patients showed the change of the sinus clearly, 6 of which with integral sinus, 14 with sinus invaded at various degrees, including 5 with sinus occlusion and 9 with stenosis. CE-MRV also showed 4 patients with clear sinuses, 1 with narrow sinus, partial interruption, and 4 with sinus removed after the surgery. CONCLUSION Application of high-resolution 3D CE-MRV in ROI in sinus meningiomas may help obtain a series of high-resolution images in a short time, show the relationship between the tumor and venous sinus, display the degree of invasion of venous sinus clearly, provide information for the surgical treatment, and evaluate the change of sinus after the surgery.
Adult ; Aged ; Aged, 80 and over ; Cranial Sinuses ; pathology ; Female ; Humans ; Image Enhancement ; methods ; Imaging, Three-Dimensional ; Magnetic Resonance Angiography ; methods ; Male ; Meningeal Neoplasms ; diagnosis ; Meningioma ; diagnosis ; Middle Aged ; Phlebography ; methods