OBJECTIVE To study the protective effect and potential mechanism of chikusetsu saponin Ⅳ a （chsⅣ） on renal function in diabetic nephropathy （DN） model rats. METHODS DN rat model was established by high-fat diet combined with streptozotocin injection. Thirty-six model rats were randomly divided into model group （i.g. administration of normal saline， high-fat diet）， chsⅣ low-dose and high-dose groups （i.g. administration of 90， 180 mg/kg chsⅣ， high-fat diet）， with 12 rats in each group. Additionally， 10 normal rats were set as the control group （i.g. administration of normal saline， regular diet）. From the 5th to the 12th week after streptozotocin injection， they were given intragastric administration of relevant drug or normal saline， once a day. After the last medication， the levels of fasting blood glucose， fasting insulin， blood urea nitrogen， serum creatinine and urine protein as well as the levels of reduced glutathione （GSH）， superoxide dismutase （SOD） and malondialdehyde （MDA） in renal tissues were measured. Additionally， the insulin resistance index was calculated. Hematoxylin-eosin， periodic acid-Schiff， and Masson staining techniques were employed to examine the histopathological alterations in the renal tissue. The expressions of Notch signaling pathway-related proteins in renal tissue were detected by immunohistochemical staining and Western blot methods. RESULTS Compared with model group， the histomorphological of renal tissues in the chsⅣ low- and high-dose groups were significantly improved， with significant decreases in renal histological scores， mesangial expansion index， and glomerulosclerosis scores （ P ＜0.05）； the levels of fasting blood glucose， fasting insulin， blood urea nitrogen， serum creatinine， urine protein and homeostasis model assessment for insulin resistance， as well as MDA content， the expression levels of Notch1， Notch intracellular domain， hairy and enhancer of Split 1 and Delta-like protein 1 in renal tissue were all significantly decreased （ P ＜0.05）. The levels of GSH and SOD in renal tissue were significantly elevated （ P ＜0.05）. Moreover， the improvement in these indicators was significantly more pronounced in the chsⅣ high-dose group compared to the chsⅣ low-dose group （ P ＜0.05）. CONCLUSIONS ChsⅣ can ameliorate renal pathological damage and functional impairment in DN rats. Its underlying mechanisms include restoration of glucose homeostasis and insulin sensitivity， attenuation of renal oxidative stress， and suppression of aberrant Notch signaling pathway activation.

OBJECTIVE: To analyze the phenotype and genotype of a neonate with Osteo-oto-hepato-enteric syndrome (O2HE) and review the literature. METHODS: A female neonate diagnosed with O2HE syndrome on December 13, 2024 at the First Affiliated Hospital of Zhengzhou University was selected as the study subject, and her clinical characteristics were analyzed, and pathogenic variants were explored by whole exome sequencing (WES). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2025-KY-1038). RESULTS: The proband, a female infant, was delivered by Cesarean section at 36⁺¹ weeks of gestation. Five days after birth, she had developed severe diarrhea, mild cholestasis, sensorineural hearing loss, and growth retardation. WES revealed that she has harbored novel compound heterozygous variants c.512delA (p.Lys171Serfs*64) and c.698C>A (p.Thr233Asn) of the UNC45A gene, which were inherited from her mother and father, respectively. A total of 8 English papers were retrieved, which involved 16 patients from 14 families. Combined with our case, the 17 patients included 13 (76.5%) females and 4 (23.5%) males. Four patients (23.5%) had consanguineous parents. One case was excluded from further genetic analysis due to co-morbidity with other genetic variants. The primary clinical features included diarrhea (87.5%), cholestasis (81.3%), sensorineural hearing loss (31.3%), bone fragility (37.5%), and developmental delay (50.0%). Bi-allelic compound heterozygous mutations were identified in 12 patients (75.0%), and homozygous variants in 4 (25.0%). These included missense, nonsense, frameshift and deletional variants. The c.710T>C (p.Leu237Pro) variant was identified for 5 times, 3 of which were in homozygote forms. CONCLUSION O2HE syndrome should be suspected in cases with diarrhea, cholestasis, and hearing abnormalities during early postnatal period. Genetic testing facilitate early identification, genetic diagnosis and treatment.
Humans ; Female ; Infant, Newborn ; Male ; Mutation ; Hearing Loss, Sensorineural/genetics* ; Diarrhea, Infantile/genetics* ; Exome Sequencing ; Phenotype ; Fetal Growth Retardation ; Hair Diseases ; Facies

Objective:To explore the value of the neutrophil-to-lymphocyte ratio（NLR）in early prediction of retinopathy of prematurity（ROP）.Methods:The medical records of 325 preterm infants with a gestational age <32 weeks who were admitted to the Neonatology Department of the First Affiliated Hospital of Zhengzhou University from January 1,2019 to December 31,2019 were retrospectively reviewed.The complete blood cell results at 7-10 days of age were collected，including white blood cell，neutrophil，lymphocyte，monocyte，and platelet counts.The NLR，lymphocyte-to-monocyte ratio（LMR），and platelet-to-lymphocyte ratio（PLR）were calculated.Logistic regression analysis was used to assess the risk factors associated with ROP.The receiver operating characteristic curve was performed to evaluate the value of NLR in the early prediction of ROP.Results:A total of 325 infants were involved,including 110（33.8%）with ROP and 215（61.2%）without ROP.The gestational age，birth weight，platelet count，lymphocyte count，and LMR were significantly lower in the ROP group（ P<0.05），whereas the neutrophil count and NLR were found to be significantly higher（ P<0.05）.Multivariate Logistic regression analysis revealed that small gestational age，low birth weight,and high NLR were major risk factors for the development of ROP.The sensitivity and specificity of NLR in early predicting ROP were 90.1% and 74.4%，respectively. Conclusion:The NLR at the first week after birth can serve as a simple method for early prediction of the development of ROP.

OBJECTIVE: To analyze the phenotype and genotype of a neonate with Hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome (HDR). METHODS: A female neonate with HDR syndrome and thyroid deficiency detected at the First Affiliated Hospital of Zhengzhou University on December 6,2023 was selected as the study subject, Low-coverage whole-genome sequencing (Lc WGS) and whole exome sequencing (WES) were carried out. Using "hypoparathyroidism""sensorineural deafness""renal dysplasia""HDR""Barakat" and"GATA3" as keywords, the CNKI, Wanfang Data Knowledge Service Platform and PubMed database were searched, and the retrieval time was set from the establishment to March 2025. RESULTS: A proband, a full-term female infant, had presented with feeding difficulty, micrognathia, and low-set ears. Serological test revealed hypocalcemia, hyperphosphatemia, hypoparathyroidism, low T3, low T4 and high TSH. Hearing test revealed bilateral sensorineural deafness. Ultrasonic test revealed absence of right kidney and thyroid. WES revealed that the she has harbored a deletion of approximately 6.67 Mb at 10p15.1p13, and Lc WGS confirmed the presence of a 6.70 Mb deletion in the same region, which was verified as a de novo variant. Literature review suggested that HDR was rarely diagnosed among neonates. Among the nine cases diagnosed in neonatal period, 66.6% (6/9) exhibited the typical triad, 77.7% (7/9) had hypoparathyroidism with hypocalcemic convulsion as the initial symptom, 22.2% (2/9) had sensorineural hearing loss or renal malformation, and 66.6% (6/9) had multiple malformations including facial dysmorphism and congenital heart disease. 55.5% (5/9) had a large deletion in the 10p15 region, whilst 33.3% (3/9) had a single gene variant. The range of the deletion had correlated with the diversity of clinical phenotypes in HDR syndrome, but the classic triad of symptoms may presented in any combination, independent of deletion size. Association of HDR with thyroid deficiency has been unreported previously. CONCLUSION For neonates presenting with one of the symptoms of HDR triad or in combination with other malformations, genetic testing should be carried out.
Humans ; Hypoparathyroidism/diagnosis* ; Female ; Infant, Newborn ; Hearing Loss, Sensorineural/diagnosis* ; GATA3 Transcription Factor/genetics* ; Nephrosis/genetics* ; Phenotype ; Exome Sequencing

Objective:To analyze the phenotype and genotype of a neonate with Hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome (HDR).Methods:A female neonate with HDR syndrome and thyroid deficiency detected at the First Affiliated Hospital of Zhengzhou University in on December 6, 2023 was selected as the study subject, Low-coverage whole-genome sequencing (Lc WGS) and whole exome sequencing (WES) were carried out. Using " hypoparathyroidism" " sensorineural deafness" " renal dysplasia" " HDR" " Barakat" and" GATA3" as keywords, the CNKI, Wanfang Data Knowledge Service Platform and PubMed database were searched, and the retrieval time was set from the establishment to March 2025. Results:A proband, a full-term female infant, had presented with feeding difficulty, micrognathia, and low-set ears. Serological test revealed hypocalcemia, hyperphosphatemia, hypoparathyroidism, low T3, low T4 and high TSH. Hearing test revealed bilateral sensorineural deafness. Ultrasonic test revealed absence of right kidney and thyroid. WES revealed that the she has harbored a deletion of approximately 6.67 Mb at 10p15.1p13, and Lc WGS confirmed the presence of a 6.70 Mb deletion in the same region, which was verified as a de novo variant. Literature review suggested that HDR was rarely diagnosed among neonates. Among the nine cases diagnosed in neonatal period, 66.6% (6/9) exhibited the typical triad, 77.7% (7/9) had hypoparathyroidism with hypocalcemic convulsion as the initial symptom, 22.2% (2/9) had sensorineural hearing loss or renal malformation, and 66.6% (6/9) had multiple malformations including facial dysmorphism and congenital heart disease. 55.5% (5/9) had a large deletion in the 10p15 region, whilst 33.3% (3/9) had a single gene variant. The range of the deletion had correlated with the diversity of clinical phenotypes in HDR syndrome, but the classic triad of symptoms may presented in any combination, independent of deletion size. Association of HDR with thyroid deficiency has been unreported previously.Conclusion:For neonates presenting with one of the symptoms of HDR triad or in combination with other malformations, genetic testing should be carried out.

Objective:To explore the value of the neutrophil-to-lymphocyte ratio（NLR）in early prediction of retinopathy of prematurity（ROP）.Methods:The medical records of 325 preterm infants with a gestational age <32 weeks who were admitted to the Neonatology Department of the First Affiliated Hospital of Zhengzhou University from January 1,2019 to December 31,2019 were retrospectively reviewed.The complete blood cell results at 7-10 days of age were collected，including white blood cell，neutrophil，lymphocyte，monocyte，and platelet counts.The NLR，lymphocyte-to-monocyte ratio（LMR），and platelet-to-lymphocyte ratio（PLR）were calculated.Logistic regression analysis was used to assess the risk factors associated with ROP.The receiver operating characteristic curve was performed to evaluate the value of NLR in the early prediction of ROP.Results:A total of 325 infants were involved,including 110（33.8%）with ROP and 215（61.2%）without ROP.The gestational age，birth weight，platelet count，lymphocyte count，and LMR were significantly lower in the ROP group（ P<0.05），whereas the neutrophil count and NLR were found to be significantly higher（ P<0.05）.Multivariate Logistic regression analysis revealed that small gestational age，low birth weight,and high NLR were major risk factors for the development of ROP.The sensitivity and specificity of NLR in early predicting ROP were 90.1% and 74.4%，respectively. Conclusion:The NLR at the first week after birth can serve as a simple method for early prediction of the development of ROP.

Objective:To analyze the phenotype and genotype of a neonate with Hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome (HDR).Methods:A female neonate with HDR syndrome and thyroid deficiency detected at the First Affiliated Hospital of Zhengzhou University in on December 6, 2023 was selected as the study subject, Low-coverage whole-genome sequencing (Lc WGS) and whole exome sequencing (WES) were carried out. Using " hypoparathyroidism" " sensorineural deafness" " renal dysplasia" " HDR" " Barakat" and" GATA3" as keywords, the CNKI, Wanfang Data Knowledge Service Platform and PubMed database were searched, and the retrieval time was set from the establishment to March 2025. Results:A proband, a full-term female infant, had presented with feeding difficulty, micrognathia, and low-set ears. Serological test revealed hypocalcemia, hyperphosphatemia, hypoparathyroidism, low T3, low T4 and high TSH. Hearing test revealed bilateral sensorineural deafness. Ultrasonic test revealed absence of right kidney and thyroid. WES revealed that the she has harbored a deletion of approximately 6.67 Mb at 10p15.1p13, and Lc WGS confirmed the presence of a 6.70 Mb deletion in the same region, which was verified as a de novo variant. Literature review suggested that HDR was rarely diagnosed among neonates. Among the nine cases diagnosed in neonatal period, 66.6% (6/9) exhibited the typical triad, 77.7% (7/9) had hypoparathyroidism with hypocalcemic convulsion as the initial symptom, 22.2% (2/9) had sensorineural hearing loss or renal malformation, and 66.6% (6/9) had multiple malformations including facial dysmorphism and congenital heart disease. 55.5% (5/9) had a large deletion in the 10p15 region, whilst 33.3% (3/9) had a single gene variant. The range of the deletion had correlated with the diversity of clinical phenotypes in HDR syndrome, but the classic triad of symptoms may presented in any combination, independent of deletion size. Association of HDR with thyroid deficiency has been unreported previously.Conclusion:For neonates presenting with one of the symptoms of HDR triad or in combination with other malformations, genetic testing should be carried out.

Objective:To investigate the clinical efficacy and prognostic influencing factors of open abdomen technique for acute pancreatitis with abdominal compartment syndrome (ACS).Methods:The retrospective cohort study was conducted. The clinical data of 186 patients of acute pancreatitis with ACS who were admitted to 6 hospitals, including 65 cases in the 910th Hospital of Joint Logistics Support Force of Chinese People′s Liberation Army, 46 cases in the First Affiliated Hospital of Wenzhou Medical University, 33 cases in the Fujian Provincial Hospital, 31 cases in the Second Affiliated Hospital of Fujian Medical University, 7 cases in the People′s Hospital Affiliated to Quanzhou Medical College, 4 cases in the Shishi General Hospital, from January 2013 to December 2020 were collected. There were 142 males and 44 females, aged (43±8)years. Observation indica-tors: (1) patients conditions after being treatment with open abdomen technique; (2) analysis of clinical characteristics in patients with different treatment outcomes; (3) changing trend of the volume of urine output, levels of lactic acid, levels of enteral nutrient intake and the sequential organ failure score in patients with different treatment outcomes; (4) influencing factors for prognosis of patients. Measurement data with normal distribution were represented as Mean± SD, and compari-son between groups was analyzed using the t test. Measurement data with skewed distribution were represented as M( Q1, Q3), and comparison between groups was analyzed using the Mann-Whitney U test. Count data were described as absolute numbers, and comparison between groups was analyzed using the chi-square test or the continuity correction chi-square test. Repeated measurement data were analyzed using the repeated ANOVA. Spearman correlation analysis was used for correlation analyses. The COX regression model was used for univariate analysis and COX regression model with forward regression was used for multivariate analysis. Results:(1) Patients conditions after being treatment with open abdomen technique. Intra-abdominal pressure, oxygena-tion index, levels of lactic acid and sequential organ failure score of the 186 patients were (23.3±1.9)mmHg (1 mmHg=0.133 kPa), (121±24)mmHg, (5.0±3.4)mmol/L and 10.4±3.6 before the treatment with open abdomen technique and (11.2±2.9)mmHg, (222±38)mmHg, (3.2±2.1)mmol/L and 4.4±2.3 at postoperative 168 hours, showing significant differences in time effects before and after the treatment ( Ftime=855.26,208.50, 174.91,208.47, P<0.05). (2) Analysis of clinical characteristics in patients with different treatment outcomes. Of the 186 patients, 166 cases survived and were discharged, and 20 cases died during hospitalization. Age, sequential organ failure score, duration of ACS and levels of lactic acid during hospitalization before the treatment with open abdomen technique were (41±7)years, 9.4±3.4, 13(10,21)hours and (4.2±0.6)mmol/L in surviving patients, versus (45±6)years, 11.5±2.4, 65(39,84)hours and (5.2±0.5)mmol/L in dead patients, respectively, showing significant differences between them ( t=-2.10, -2.71, Z=-5.36, t=-7.16, P<0.05). Duration of postoperative acute gastro-intestinal injury, duration of continuous renal replacement therapy, time to liberation from mech-anical ventilation, duration of vasoactive drugs therapy, cases undergoing early abdominal closure, cases without intestinal fistula or with postoperative high-order intestinal fistula and low-order intestinal fistula during hospitalization after the treatment with open abdomen technique were 4(2,6)days, 4(3,7)days, 34(21,41)days, 3(2,6)days, 126, 131, 23, 12 in surviving patients, versus 13(10,17)days, 10(8,18)days, 0(0,3)days, 8(6,12)days, 1, 2, 15, 3 in dead patients, respectively, showing significant differences between them ( Z=-5.60, -3.75, -3.64, -3.06, χ2=41.43, 45.86, P<0.05). (3) Changing trend of the volume of urine output, levels of lactic acid, levels of enteral nutrient intake and the sequential organ failure score in patients with different treatment outcomes. The volume of urine output, levels of lactic acid, levels of enteral nutrient intake and the sequential organ failure score in surviving patients during hospitalization were (0.29±0.10)mL/(kg·h), (4.2±0.6)mmol/L, 0.0 kcal/(kg·d) and 9.4±3.4 before the treatment with open abdomen technique and (2.22±0.15)mL/(kg·h), (1.9±0.7)mmol/L, (20.7±2.9)kcal/(kg·d) and 3.7±2.2 at postoperative 168 hours. The above indicators in dead patients during hospitalization were (0.28±0.08)mL/(kg·h), (5.2±0.5)mmol/L, 0.0kcal/(kg·d) and 11.5±2.4 before the treatment with open abdomen technique and (0.28±0.09)mL/(kg·h), (7.7±0.8)mmol/L, (4.6±1.8)kcal/(kg·d) and 12.4±2.1 at postoperative 168 hours. There were significant differences in time effects in the above indicators in surviving patients and dead patients before and after the treatment with open abdomen technique ( Ftime=425.57, 188.59, 394.84, 37.52, P<0.05). There were interactive effects between the above indicators and the treatment outcome at different time points ( Finteraction=383.14, 233.04, 169.83, 36.61, P<0.05). There were signifi-cant differences in the change trends of the above indicators between the surviving patients and the dead patients during hospitalization ( Fgouprs=2 739.56, 877.98, 542.05, 240.85, P<0.05). (4) Influen-cing factors for prognosis of patients. Results of univariate analysis showed that age, sequential organ failure score, duration of ACS before surgery, procalcitonin, lactic acid, postoperative high-order intestinal fistula, abdominal hemorrhage, duration of postoperative acute gastrointestinal injury, duration of continuous renal replacement therapy, duration of vasoactive drugs therapy, early abdominal closure were related factors influencing prognosis of patients under-going treatment with open abdomen technique ( hazard ratio=1.07, 1.18, 1.39, 1.16, 8.25, 12.26, 2.83, 1.29, 1.56, 1.41, 0.02, 95% confidence interval as 1.00-1.15, 1.45-2.27, 1.22-1.57, 1.02-1.32, 1.75-38.90, 7.37-41.23, 1.16-6.93, 1.22-1.37, 1.23-1.99, 1.08-1.84, 0.00-0.16, P<0.05). Results of multivariate analysis showed that extended duration of ACS before surgery, postoperative high-order intestinal fistula and extended duration of postoperative acute gastrointestinal injury were independent risk factors influencing prognosis of patients undergoing treatment with open abdomen technique ( hazard ratio=1.05, 7.95, 1.17, 95% confidence interval as 1.01-1.32, 2.05-30.87, 1.13-1.95, P<0.05) and early abdominal closure was an independent protective factor ( hazard ratio=0.10, 95% confidence interval as 0.01-0.89, P<0.05). Results of Spearman correlation analysis showed that duration of ACS was positively correlated with sequential organ failure score before surgery ( r=0.71, P<0.05). Conclusions:Open abdomen technique is effective for acute pancreatitis with ACS. Extended duration of ACS before surgery, postoperative high-order intestinal fistula and extended duration of postoperative acute gastrointestinal injury are independent risk factors for prognosis of patients during hospitalization and early abdominal closure is an independent protective factor.

Although great progress has been made in perinatal and neonatal medicine, the morbidity and mortality of premature complications remain high.At present, the prevention and treatment of preterm infants with broncho-pulmonary dysplasia, brain injury, necrotizing enterocolitis, retinopathy of prematurity and other complications are cha-llenging.Experimental evidences have shown that regenerative medicine based on mesenchymal stem cells is a promising therapeutic strategy for premature complications, although it has potential risks like tumorigenicity and immune rejection.Exosomes are the key mediators of mesenchymal stem cells, which have been a promising method for the treatment of premature complications.This study aims to review the research progress of exosomes derived from mesenchymal stem cells in the treatment of premature complications.