OBJECTIVES: To study the clinical and genetic characteristics of children with congenital adrenal hyperplasia (CAH). METHODS: Clinical data, laboratory findings, and genetic test results of 63 children diagnosed with CAH at Henan Children's Hospital from January 2017 to December 2024 were retrospectively reviewed. RESULTS: Of the 63 patients, the mean age at the first visit was (21 ± 14) days; 29 (46%) were of male sex and 34 (54%) were of female sex. The predominant clinical manifestations were poor weight gain or weight loss (92%, 58/63), poor feeding (84%, 53/63), skin hyperpigmentation (83%, 52/63), and female external genital anomalies (100%, 34/34). Laboratory abnormalities included hyponatremia (87%, 55/63), hyperkalemia (68%, 43/63), metabolic acidosis (68%, 43/63), and markedly elevated 17-hydroxyprogesterone (92%, 58/63), testosterone (89%, 56/63), and adrenocorticotropic hormone (81%, 51/63). Among 49 patients who underwent genetic testing, CYP21A2 variants were identified in 90% (44/49), with c.293-13A/C>G (33%, 30/91) and large deletions/gene conversions (29%, 26/91) being the most frequent; STAR (8%, 4/49) and HSD3B2 (2%, 1/49) variants were also detected. Following hormone replacement therapy, electrolyte disturbances were corrected in 57 cases, with significant reductions in 17-hydroxyprogesterone, adrenocorticotropic hormone, and testosterone levels (P<0.001). CONCLUSIONS CAH presenting in neonates or young infants is characterized by electrolyte imbalance, external genital anomalies, and abnormal hormone levels. Genetic testing enables definitive subtype classification; in CYP21A2-related CAH, c.293-13A/C>G is a hotspot variant. These findings underscore the clinical value of genetic testing for early diagnosis and genetic counseling in CAH. Citation:Chinese Journal of Contemporary Pediatrics, 2025, 27(11): 1367-1372.
Humans ; Adrenal Hyperplasia, Congenital/diagnosis* ; Male ; Female ; Retrospective Studies ; Infant ; Infant, Newborn

OBJECTIVE: To evaluate the dynamic changes of glucocorticoid (GC) dose and the feasibility of GC discontinuation in rheumatoid arthritis (RA) patients under the background of Chinese medicine (CM). METHODS: This multicenter retrospective cohort study included 1,196 RA patients enrolled in the China Rheumatoid Arthritis Registry of Patients with Chinese Medicine (CERTAIN) from September 1, 2019 to December 4, 2023, who initiated GC therapy. Participants were divided into the Western medicine (WM) and integrative medicine (IM, combination of CM and WM) groups based on medication regimen. Follow-up was performed at least every 3 months to assess dynamic changes in GC dose. Changes in GC dose were analyzed by generalized estimator equation, the probability of GC discontinuation was assessed using Kaplan-Meier curve, and predictors of GC discontinuation were analyzed by Cox regression. Patients with <12 months of follow-up were excluded for the sensitivity analysis. RESULTS: Among 1,196 patients (85.4% female; median age 56.4 years), 880 (73.6%) received IM. Over a median 12-month follow-up, 34.3% (410 cases) discontinued GC, with significantly higher rates in the IM group (40.8% vs. 16.1% in WM; P<0.05). GC dose declined progressively, with IM patients demonstrating faster reductions (median 3.75 mg vs. 5.00 mg in WM at 12 months; P<0.05). Multivariate Cox analysis identified age <60 years [P<0.001, hazard ratios (HR)=2.142, 95% confidence interval (CI): 1.523-3.012], IM therapy (P=0.001, HR=2.175, 95% CI: 1.369-3.456), baseline GC dose ⩽7.5 mg (P=0.003, HR=1.637, 95% CI: 1.177-2.275), and absence of non-steroidal anti-inflammatory drugs use (P=0.001, HR=2.546, 95% CI: 1.432-4.527) as significant predictors of GC discontinuation. Sensitivity analysis (545 cases) confirmed these findings. CONCLUSIONS RA patients receiving CM face difficulties in following guideline-recommended GC discontinuation protocols. IM can promote GC discontinuation and is a promising strategy to reduce GC dependency in RA management. (Trial registration: ClinicalTrials.gov, No. NCT05219214).
Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Arthritis, Rheumatoid/drug therapy* ; Glucocorticoids/therapeutic use* ; Medicine, Chinese Traditional ; Retrospective Studies

OBJECTIVE: Humans are exposed to complex mixtures of environmental chemicals and other factors that can affect their health. Analysis of these mixture exposures presents several key challenges for environmental epidemiology and risk assessment, including high dimensionality, correlated exposure, and subtle individual effects. METHODS: We proposed a novel statistical approach, the generalized functional linear model (GFLM), to analyze the health effects of exposure mixtures. GFLM treats the effect of mixture exposures as a smooth function by reordering exposures based on specific mechanisms and capturing internal correlations to provide a meaningful estimation and interpretation. The robustness and efficiency was evaluated under various scenarios through extensive simulation studies. RESULTS: We applied the GFLM to two datasets from the National Health and Nutrition Examination Survey (NHANES). In the first application, we examined the effects of 37 nutrients on BMI (2011-2016 cycles). The GFLM identified a significant mixture effect, with fiber and fat emerging as the nutrients with the greatest negative and positive effects on BMI, respectively. For the second application, we investigated the association between four pre- and perfluoroalkyl substances (PFAS) and gout risk (2007-2018 cycles). Unlike traditional methods, the GFLM indicated no significant association, demonstrating its robustness to multicollinearity. CONCLUSION GFLM framework is a powerful tool for mixture exposure analysis, offering improved handling of correlated exposures and interpretable results. It demonstrates robust performance across various scenarios and real-world applications, advancing our understanding of complex environmental exposures and their health impacts on environmental epidemiology and toxicology.
Humans ; Environmental Exposure/analysis* ; Linear Models ; Nutrition Surveys ; Environmental Pollutants ; Body Mass Index

The Wnt signaling pathway includes both classical and non classical pathways,Wnt5a-Frizzled-2 pathway participates in the Wnt/Ca2+signaling pathway in the non-classical pathway,which is activated by the Wnt-related protein Wnt5a and its ligand Frizzled-2.It can regulate some key sites in cells to affect cell signal transduction,and is closely related to cell growth process.Activation of Wnt5a-Fizzled-2 pathway occurs in some tissues with abundant blood supply,such as heart and brain tissues,during ischemia-reperfusion.Activation of the Wnt5a-Frizzled-2 pathway causes these intracellular calcium overload,ultimately promoting apoptosis.This article reviews the abnormal activation of Wnt5a-Frizzled-2 signaling pathway in ischemia-reperfusion injury diseases and the induced calcium overload leading to apoptosis,in order to provide reference for the study of physiological mechanisms of ischemia-reperfusion injury.

This is the first reported case of a female with monkeypox infection in Kunming City,Yunnan Province.An epi-demiological investigation was conducted to provide a scientific basis for the prevention and control of monkeypox epidemics in China,especially for early detection in females in accordance with the"Monkeypox prevention and control program(2023 ver-sion)".Diagnosis was performed as described in the"Monkeypox Diagnosis and Treatment Guidelines(2022 version)".Speci-mens were collected for laboratory testing.The epidemiological investigation determined that the female patient had sexual in-tercourse with her newly married husband once before disease onset and the husband hid his history of male homosexual sex.The laboratory test results of the woman and her husband were positive for the nucleic acid of the monkeypox virus.Both had typical clinical symptoms,including rash.The epidemiological investigation,clinical symptoms,laboratory test results,and previous epidemic data of monkeypox in Yunnan province confirmed the woman as the first female infected with monkeypox in Yunnan Province and her husband was the presumed source of infection.

Vascular calcification is a highly regulated process of ectopic calcification in cardiovascular system while no effective intervention can be clinically performed up to date.As vascular calcification undergoes a common regulatory mechanism within bone formation,bone morphogenetic protein 7(BMP-7)main-tains contractile phenotype of vascular smooth muscle cells and further inhibits vascular calcification via promoting the process of osteoblast differentiation,reducing ectopic calcification pressure by increasing bone formation and reducing bone resorption.This work systematically reviews the role of BMP-7 in vascular calcifi-cation and the possible mechanism,and their current clinical application as well.The current proceedings may help develope early diagnostic strategy and therapeutic treatment with BMP-7 as a new molecular marker and potential drug target.The expec-tation could achieve early prevention and intervention of vascular calcification and improve poor prognosis on patients.

OBJECTIVE: To investigate the effect of bone cement distribution on efficacy of residual back pain after percutaneous vertebra plasty(PVP). METHODS: From January 2017 to December 2020, a total of 65 cases with single segment osteoporotic thoracolumbar vertebral fractures underwent parallel vertebroplasty surgery. On the basis of the postoperative X-ray films of bone cement distribution were divided into two groups. The bone cement was biased to the lateral side of the vertebral body (partial group, 20 cases), there were 9 males and 11 famales with an average age of (70.3±7.4) years old ranging from 60 to 84 years old. The bone cement was over the vertebral midline, and completely filled with contralateral vertebral body (bilateral group, 45 cases), there were 10 males and 35 famales with an average age of (70.7±8.0) years old ranging from 60 to 86 years old. All of them underwent PVP surgery, bone cement was injected into the vertebral body through paitail transpedicular approach. The amount of bone cement injection, the visual analogue scale(VAS) of preoperation and 1 day, 1 month, 3 months after surgery between two groups were observed and compared. RESULTS: The amount of cement injection was (4.25±0.99) ml in the partial group, and (4.07±1.18) ml in the bilateral group, there was no significant difference between two groups (P>0.05). Postoperative pain was relieved than preoperative pain (P<0.05), the VAS of 1 day, 1 and 3 months after operation (3.90±1.37), (2.35±0.67) and (1.55±0.51) in the partial group were higher than (2.67±0.60), (1.62±0.58) and (1.31±0.47) in the bilateral group (P<0.05). There were 9 cases in partial group, the pain was not relieved due to unfilled cement until the contralateral bone was injected into the bone cement. CONCLUSION The distribution of bone cement is one of the main factors affecting residual back pain after PVP, and in the clinical, we should make sure the distribution of bone cement over the midline of vertebral body.
Humans ; Bone Cements ; Aged ; Male ; Female ; Middle Aged ; Aged, 80 and over ; Vertebroplasty/methods* ; Back Pain/etiology* ; Lumbar Vertebrae/surgery* ; Spinal Fractures/surgery* ; Thoracic Vertebrae/surgery*

OBJECTIVE: To investigate the factors related to renal impairment in patients with diabetic kidney disease (DKD) from the perspective of integrated Chinese and Western medicine. METHODS: Totally 492 patients with DKD in 8 Chinese hospitals from October 2017 to July 2019 were included. According to Kidney Disease Improving Global Outcomes (KDIGO) staging guidelines, patients were divided into a chronic kidney disease (CKD) 1-3 group and a CKD 4-5 group. Clinical data were collected, and logistic regression was used to analyze the factors related to different CKD stages in DKD patients. RESULTS: Demographically, male was a factor related to increased CKD staging in patients with DKD (OR=3.100, P=0.002). In clinical characteristics, course of diabetes >60 months (OR=3.562, P=0.010), anemia (OR=4.176, P<0.001), hyperuricemia (OR=3.352, P<0.001), massive albuminuria (OR=4.058, P=0.002), atherosclerosis (OR=2.153, P=0.007) and blood deficiency syndrome (OR=1.945, P=0.020) were factors related to increased CKD staging in patients with DKD. CONCLUSIONS Male, course of diabetes >60 months, anemia, hyperuricemia, massive proteinuria, atherosclerosis, and blood deficiency syndrome might indicate more severe degree of renal function damage in patients with DKD. (Registration No. NCT03865914).
Humans ; Male ; Diabetes Mellitus, Type 2 ; Diabetic Nephropathies ; Hyperuricemia ; Kidney ; Proteinuria ; Renal Insufficiency, Chronic/complications*

Objective: To compare the safety and efficacy of transmesenteric vein extrahepatic portosystemic shunt (TEPS) and transjugular intrahepatic portosystemic shunt (TIPS) in the treatment of cavernous transformation of the portal vein (CTPV). Methods: The clinical data of CTPV patients with patency or partial patency of the superior mesenteric vein treated with TIPS or TEPS treatment in the Department of Vascular Surgery of Henan Provincial People's Hospital from January 2019 to December 2021 were selected. The differences in baseline data, surgical success rate, complication rate, incidence rate of hepatic encephalopathy, and other related indicators between TIPS and TEPS group were statistically analyzed by independent sample t-test, Mann-Whitney U test, and Chi-square test. Kaplan-Meier survival curve was used to calculate the cumulative patency rate of the shunt and the recurrence rate of postoperative portal hypertension symptoms in both groups. Results: The surgical success rate (100% vs. 65.52%), surgical complication rate (6.67% vs. 36.84%), cumulative shunt patency rate (100% vs. 70.70%), and cumulative symptom recurrence rate (0% vs. 25.71%) of the TEPS group and TIPS group were statistically significantly different (P < 0.05). The time of establishing the shunt [28 (2141) min vs. 82 (51206) min], the number of stents used [1 (12) vs. 2 (15)], and the length of the shunt [10 (912) cm vs. 16 (1220) cm] were statistically significant between the two groups (t = -3.764, -4.059, -1.765, P < 0.05). The incidence of postoperative hepatic encephalopathy in the TEPS group and TIPS group was 6.67% and 15.79% respectively, with no statistically significant difference (Fisher's exact probability method, P = 0.613). The pressure of superior mesenteric vein decreased from (29.33 ± 1.99) mmHg to (14.60 ± 2.80) mmHg in the TEPS group and from (29.68 ± 2.31) mmHg to (15.79 ± 3.01) mmHg in TIPS group after surgery, and the difference was statistically significant (t = 16.625, 15.959, P < 0.01). Conclusion: The best indication of TEPS is in CTPV patients with patency or partial patency of the superior mesenteric vein. TEPS improves the accuracy and success rate of surgery and reduces the incidence of complications.
Humans ; Portal Vein/surgery* ; Portasystemic Shunt, Transjugular Intrahepatic/methods* ; Hepatic Encephalopathy/etiology* ; Treatment Outcome ; Hypertension, Portal/complications* ; Retrospective Studies ; Gastrointestinal Hemorrhage/etiology*

Objective: To observe the expansion rule of directional skin and soft tissue expander (hereinafter referred to as expander) in abdominal scar reconstruction. Methods: A prospective self-controlled study was conducted. Twenty patients with abdominal scar who met the inclusion criteria and admitted to Zhengzhou First People's Hospital from January 2018 to December 2020 were selected by random number table method, including 5 males and 15 females, aged 12-51 (31±12) years, with 12 patients of type Ⅰ scar and 8 patients of type Ⅱ scar. In the first stage, two or three expanders with rated capacity of 300-600 mL were placed on both sides of the scar, of which at least one expander had rated capacity of 500 mL (as the follow-up observation object). After the sutures were removed, water injection treatment was started, with the expansion time of 4 to 6 months. After the water injection volume reached 2.0 times of the rated capacity of expander, abdominal scar excision+expander removal+local expanded flap transfer repair was performed in the second stage. The skin surface area at the expansion site was measured respectively when the water injection volume reached 1.0, 1.2, 1.5, 1.8, and 2.0 times of the rated capacity of expander, and the skin expansion rate of the expansion site at corresponding multiples of expansion (1.0, 1.2, 1.5, 1.8, and 2.0 times) and adjacent multiple intervals (1.0-1.2, 1.2-1.5, 1.5-1.8, and 1.8-2.0 times) were calculated. The skin surface area of the repaired site at 0 (immediately), 1, 2, 3, 4, 5, and 6 months after operation, and the skin shrinkage rate of the repaired site at different time points (1, 2, 3, 4, 5, and 6 months after operation) and different time periods (0-1, 1-2, 2-3, 3-4, 4-5, and 5-6 months after operation) were calculated. Data were statistically analyzed with analysis of variance for repeated measurement and least significant difference-t test. Results: Compared with the expansion of 1.0 time ((287.6±2.2) cm² and (47.0±0.7)%), the skin surface area and expansion rate of the expansion site of patients ((315.8±2.1), (356.1±2.8), (384.9±1.6), and (386.2±1.5) cm², (51.7±0.6)%, (57.2±0.6)%, (60.4±0.6)%, and (60.5±0.6)%) were significantly increased when the expansion reached 1.2, 1.5, 1.8, and 2.0 times (with t values of 46.04, 90.38, 150.14, 159.55, 45.11, 87.83, 135.82, and 118.48, respectively, P<0.05). Compared with the expansion of 1.2 times, the skin surface area and expansion rate of the expansion site of patients were significantly increased when the expansion reached 1.5, 1.8, and 2.0 times (with t values of 49.82, 109.64, 122.14, 144.19, 49.51, and 105.85, respectively, P<0.05). Compared with the expansion of 1.5 times, the skin surface area and expansion rate of the expansion site of patients were significantly increased when the expansion reached 1.8 times (with t values of 38.93 and 39.22, respectively, P<0.05) and 2.0 times (with t values of 38.37 and 38.78, respectively, P<0.05). Compared with the expansion of 1.8 times, the skin surface area and expansion rate of the expansion site of patients both had no statistically significant differences when the expansion reached 2.0 times (with t values of 4.71 and 4.72, respectively, P>0.05). Compared with the expansion of 1.0-1.2 times, the skin expansion rate of the expansion site of patient was significantly increased when the expansion reached 1.2-1.5 times (t=6.95, P<0.05), while the skin expansion rate of the expansion site of patient was significantly decreased when the expansion reached 1.5-1.8 and 1.8-2.0 times (with t values of 5.89 and 40.75, respectively, P<0.05). Compared with the expansion of 1.2-1.5 times, the skin expansion rate of the expansion site of patient was significantly decreased when the expansion reached 1.5-1.8 and 1.8-2.0 times (with t values of 10.50 and 41.92, respectively, P<0.05). Compared with the expansion of 1.5-1.8 times, the skin expansion rate of the expansion site of patient was significantly decreased when the expansion reached 1.8-2.0 times (t=32.60, P<0.05). Compared with 0 month after operation, the skin surface area of the repaired site of patient at 1, 2, 3, 4, 5, and 6 months after operation was significantly decreased (with t values of 61.66, 82.70, 96.44, 102.81, 104.51, and 102.21, respectively, P<0.05). Compared with 1 month after operation, the skin surface area of the repaired site of patient was significantly decreased at 2, 3, 4, 5, and 6 months after operation (with t values of 37.37, 64.64, 69.40, 72.46, and 72.62, respectively, P<0.05), while the skin shrinkage rate was significantly increased (with t values of 32.29, 50.00, 52.67, 54.76, and 54.62, respectively, P<0.05). Compared with 2 months after operation, the skin surface area of the repaired site of patient was significantly decreased at 3, 4, 5, and 6 months after operation (with t values of 52.41, 60.41, 70.30, and 65.32, respectively, P<0.05), while the skin shrinkage rate was significantly increased (with t values of 52.97, 59.29, 69.68, and 64.50, respectively, P<0.05). Compared with 3 months after operation, the skin surface area of the repaired site of patient was significantly decreased at 4, 5, and 6 months after operation (with t values of 5.53, 38.00, and 38.52, respectively, P<0.05), while the skin shrinkage rate was significantly increased (with t values of 25.36, 38.59, and 37.47, respectively, P<0.05). Compared with 4 months after operation, the skin surface area (with t values of 41.10 and 50.50, respectively, P>0.05) and skin shrinkage rate (with t values of 48.09 and 50.00, respectively, P>0.05) of the repaired site of patients at 5 and 6 months after operation showed no statistically significant differences. Compared with 5 months after operation, the skin surface area and skin shrinkage rate of the repaired site of patient at 6 months after operation showed no statistically significant differences (with t values of 9.40 and 9.59, respectively, P>0.05). Compared with 0-1 month after operation, the skin shrinkage rate of the repaired site of patient at 1-2, 2-3, 3-4, 4-5, and 5-6 months after operation was significantly decreased (with t values of 13.56, 40.00, 49.21, 53.97, and 57.68, respectively, P<0.05). Compared with 1-2 months after operation, the skin shrinkage rate of the repaired site of patients at 2-3, 3-4, 4-5, and 5-6 months after operation was significantly decreased (with t values of 12.37, 27.72, 30.16, and 31.67, respectively, P<0.05). Compared with 2-3 months after operation, the skin shrinkage rate of the repaired site of patients at 3-4, 4-5, and 5-6 months after operation was significantly decreased (with t values of 33.73, 41.31, and 54.10, respectively, P<0.05). Compared with 3-4 months after operation, the skin shrinkage rate of the repaired site of patient at 4-5 and 5-6 months after operation showed no statistically significant differences (with t values of 10.90 and 23.60, respectively, P>0.05). Compared with 4-5 months after operation, the skin shrinkage rate of the repaired site of patient at 5-6 months after operation showed no statistically significant difference (t=20.90, P>0.05). Conclusions: The expander can effectively expand the abdominal skin, thus repairing the abdominal scar deformity. Maintained expansion for one month after the water injection expansion reaches 1.8 times of the rated capacity of the expander can be set as a phase Ⅱ operation node.
Female ; Male ; Humans ; Cicatrix/surgery* ; Prospective Studies ; Tissue Expansion Devices ; Skin ; Abdominal Wall