Familial glucocorticoid deficiency type 4(FGD4) is a rare autosomal recessive disorder caused by mutations in the nicotinamide nucleotide transhydrogenase(NNT) gene. The article presented clinical data, laboratory results, and genetic mutation findings of a child with FGD4. Additionally, a retrospective analysis of the clinical data of FGD4 patients reported domestically and internationally was conducted, summarizing the types of gene mutations and clinical characteristics. This case identifies novel mutation sites in the NNT gene, providing a basis for the early diagnosis and treatment of FGD4 patients.

Objective To investigate the effect of fear-induced stress during pregnancy on the expression of glucose transporters(GLUT)in the placenta,providing evidence for the theory of fetal damage caused by fear-induced stress during pregnancy.Methods Twenty pregnant Wistar rats were randomly divided into a control group and a model group of 10 rats each.In the model group,a fear-induced stress model was established using the modified bystander electroshock method for 20 days.After the experiment,the number of offspring and the weights of the placenta and fetal rats were measured,and the placental efficiency was calculated.Transmission electron microscopy was used to observe the morphological changes of placental cells.Bioinformatics analysis was performed to screen for differential genes in placentas affected by pregnancy stress-phobia,and gene set enrichment analysis was performed.Protein immunoblotting(Western Blot),Real-time fluorescence quantitative polymerase chain reaction(Real-time PCR),and immunohistochemistry were used to detect the expression levels of GLUT1,GLUT3,GLUT6,and GLUT7 proteins and genes.Results The placental efficiency was significantly reduced in the model group compared with that in the control group.The result of transmission electron microscopy in the model group showed that the placental microvilli were sparse and short and that the mitochondria and endoplasmic reticulum were swollen.Gene set enrichment analysis revealed that placental genes were significantly enriched in cellular glucose homeostasis in the model group compared with those in the control group.The result of Western Blot,Real-time PCR,and immunohistochemistry indicated a decrease in both the protein and gene expression levels of GLUT1,GLUT6,and GLUT7 in the placenta of pregnant rats.Conclusions Prenatal exposure to fear-induced stress may lead to adverse pregnancy outcomes.These adverse outcomes are potentially associated with reduced levels of three key GLUTs in the placenta:GLUT1,GLUT6,and GLUT7.

Objective To investigate the effects and mechanisms of five-element music on the social behavior of the children of mothers with fear stress during pregnancy and provide a basis for the early prevention and treatment of clinical fetogenic affective disorders.Methods Forty-five pregnant mice were randomly divided into three groups:a control group,model group,and five-element music group.The model and five-element music group models were established using the bystander electric shock method.Additionally,the five-element music group was exposed to Palace Tune five-element music daily from 17:00 to 19:00 during pregnancy.On the 19th day of pregnancy,ELISA was employed to assess the levels of adrenocorticotropin(ACTH)and cortisol(CORT)in the serum of pregnant mice in each group for modeling evaluation.The offspring were subsequently grouped with their mother and underwent an 8-week-old three-box social experiment to observe their social behavior.We used the immunofluorescence double-labeling method to detect glutamatergic neuron activity in the medial prefrontal cortex(mPFC)of the offspring.High-performance liquid chromatography was employed to measure the total glutamate(Glu)content in the mPFC,while Gorky staining was used to observe changes in the dendritic spines of mPFC neurons in the offspring.Results Compared to those in the blank group,pregnant mice in the model group exhibited a significant increase in the levels of ACTH and CORT in their serum,and there was a significant decrease in the social interaction time and social novelty preference index of their offspring.There was also a significant decrease in glutamate neuron activity,glutamate content,and neuronal dendritic spine density.In contrast,compared with those in the model group,pregnant mice in the five-element music group demonstrated a reduction in the levels of ACTH and CORT in the serum,and there were improvements in the social behavior,glutamate neuron activity,glutamate content,and condition of neuronal dendritic spines in the offspring.Conclusions Intervention with five-element music effectively ameliorated the offspring's social behavior disorder result ing from prenatal fear stress;the mechanism was potentially linked to enhanced glutamate neuron activity in the mPFC region.

Astrocytes(AS)are the most abundant glial cells in the central nervous system and are involved in many physiological and pathological processes in the nervous system.Alterations in their phenotype are particularly important for the health of the CNS.Epigenetic mechanisms,including DNA methylation,histone modification,non-coding RNA regulation,and chromatin remodeling,are closely linked to alterations in AS proliferation,differentiation,inflammation,and other phenotypic features,but how these mechanisms function needs to be explored and summarized.By reviewing the recent advances in the role of epigenetic mechanisms in AS under various physiological and pathological states,we aim to provide new ideas for the understanding and treatment of related diseases.

Objective On the premise of meeting the image quality requirements of simulated location for pediatric radiotherapy,the simulated localizable CT parameters are optimized through phantom scanning to reduce the radiation dose.Methods CatPhan700 phantom was used to simulate the child's body,Philip 24-row large-aperture spiral simulated localizable CT was performed,and the CT images were obtained by scanning the phantom at different mAs and tube voltages.The mAs range was set at 60-400 mAs,the scanning was performed every 20 mAs interval,and the kV was set at 80,100,and 120 kV.Image evaluation was carried out using parameters such as image noise(N10 and mean SD),uniformity,low contrast resolution,high contrast resolution,and the stabilities of HU values of Air,Acrylic,50%bone,LDPE,20%bone,Teflon,Polystyrene,DelrinTM,Lung,PMP and Water.The CTDIVol and DLP automatically calculated by the simulated localizable CT system were read to evaluate the radiation dose.Results At 100 kV,as mAs increased,both CTDI and DLP showed upward trends,and the fitting results were linear correlated,with slopes of 0.034 5 and 0.932 4.Image noise was decreased nonlinearly with the increasing mAs.When mAs increased from 60 to 140 mAs,N10 decreased from 0.25%to 0.14%,and SD reduced from 3.74 HU to 2.54 HU.When mAs reached 180 mAs or higher,N10 fluctuated between 0.1%and 0.12%,the mean SD fluctuated between 2.0 and 2.5 HU,and the downward trends obviously slowed down.When mAs increased from 60 to 200 mAs,the low contrast resolution of the image dropped from 0.53 to 0.29.The image uniformity,high contrast resolution and HU values of different substances were less affected by mAs.The image quality of 100 kV and 200 mAs scanning was close to that of 120 kV scanning,but the image quality of 80 kV scanning failed to meet the clinical requirements.Conclusion In order to reduce the radiation dose as much as possible,the mAs should be set at 200 mAs when the tube voltage is set at 100 kV for a simulated cylinder with a diameter of 20 cm.In the actual simulation scanning for pediatric radiotherapy,the scanning parameters should be fine-tuned according to the phantom results and the actual physical characteristics of children to satisfy the optimization principle for radiation protection.

Objective:To compare the efficacy and safety of internal fixation using the olecranon osteotomy approach versus the bilateral triceps approach for the treatment of AO type C distal humeral fractures.Methods:We conducted a systematic search of China National Knowledge Infrastructure (CNKI), Wanfang, VIP, Chinese Medical Journal Full-Text Database, PubMed, Embase, Web of Science, and Cochrane Library for clinical studies comparing the olecranon osteotomy approach with the bilateral triceps approach for the treatment of AO type C distal humeral fractures. The search period was from January 2017 to March 2023. A meta-analysis was performed on the included studies. Random-effects models were used for analyses with high inter-group heterogeneity, while fixed-effects models were applied for those with low inter-group heterogeneity.Results:A total of 15 studies were included in the meta-analysis, comprising 480 cases treated via the olecranon osteotomy approach and 443 cases via the bilateral triceps approach. Meta-analysis results showed that the olecranon osteotomy approach was associated with longer operative time [ SMD=0.96, 95% CI(0.23, 1.70), P=0.010] and more intraoperative blood loss [ SMD=1.00, 95% CI(0.22, 1.78), P=0.012]compared to the bilateral triceps approach. There were no statistically significant differences between the two groups in postoperative Mayo Elbow Performance Score [ SMD=0.55, 95% CI(-0.23, 1.32), P=0.167], excellent and good reduction rate [ OR=0.98, 95% CI(0.75, 1.27), P=0.856], postoperative complication rate [ OR=1.27, 95% CI(0.77, 2.09), P=0.344], healing time [ SMD= -0.13, 95% CI(-0.37, 0.11), P=0.280], and range of motion of the elbow joint [ SMD=-0.02, 95% CI(-0.29, 0.26), P=0.891]. Conclusion:The bilateral triceps approach for internal fixation of AO type C distal humeral fractures is associated with shorter operative time and lower intraoperative blood loss compared to the olecranon osteotomy approach. The bilateral triceps approach for internal fixation of AO type C distal humeral fractures is associated with shorter operative time and lower intraoperative blood loss compared to the olecranon osteotomy approach.

Epilepsy is a complex neurological disease and its pathogenesis has not yet been clear. More and more evidence shows that epilepsy is closely related to epigenetic mechanisms such as histone deacetylation. Histone deacetylase inhibitors, a kind of epilepsy targeting drug potentially, are involved in the protection of neurogenesis and the regulation of a variety of neural signal cascade reactions. This article reviews the research progress of histone deacetylation in the pathogenesis of epilepsy and application prospect of histone deacetylase inhibitors in treating epilepsy.

Objective Using event-related potentials(ERPs),to study the effect and mechanism of negative emotion accumulation hepatic insufficiency on working memory in normal people.Methods Fifty subjects in each of the emotionally stable group and emotionally unstable group were given two load tasks(0-back and 1-back)in the N-back paradigm,the reaction time and correct rate were recorded,and the ERPs components N200 and P300 were detected.The latency and amplitude of P300 were analyzed statistically.Results ①Compared with the emotionally stable group,the emotionally unstable group had a longer reaction time(P<0.05).②Compared with the emotionally stable group,the subjects in the emotionally unstable group had prolonged N200 latency,decreased P300 amplitude significantly(P<0.05),and P300 latency had a tendency to extend(P<0.1).Conclusion Long-term accumulation of negative emotions and liver failure in normal people have the performance of decreased working memory,which may be related to the reduction of attention resource allocation and the impairment of cognitive processing function.

Objective:To study the antioxidant protective effects of different low-dose of insulin glargine on organs of burned rats with delayed resuscitation.Methods:Forty male Sprague-Dawley (SD) rats were randomly divided into sham group, delayed resuscitation control group, and insulin glargine 0.5, 1.0, and 2.0 U groups, with 8 rats in each group. The rats were immersed in hot water (95.0±0.5) ℃ for 15 s to establish the third-degree scald model with 30% total body surface area. The rats in the sham group were immersed in a 37 ℃ water bath for 15 s. Insulin glargine (0.5, 1.0, 2.0 U·kg -1·d -1) was injected subcutaneously in corresponding insulin glargine group 2 hours after injury, and the same amount of normal saline was injected intraperitoneally in the delayed resuscitation control group. Intraperitoneal injection of normal saline 40 mL/kg simulated delayed resuscitation 6 hours after injury in all groups. Abdominal aortic blood samples, heart and kidney tissue were collected immediately after simulating burn in the sham group, and 24 hours after burn in other four groups. The blood glucose, myocardial enzymes [lactate dehydrogenase (LDH), creatine kinase (CK), α-hydroxybutyrate dehydrogenase (α-HBDH), and aspartate aminotransferase (AST)] and renal function indexes [blood urea nitrogen (BUN) and serum creatinine (SCr)] were measured by spectrophotometry, and the isoenzyme MB of creatine kinase (CK-MB) level was determined by immunosuppression method to evaluate the effects of different low-dose insulin glargine intervention on blood glucose, cardiac and renal functions in scalded rats with delayed resuscitation. The oxidative and antioxidant indices [xanthine oxidase (XOD), myeloperoxidase (MPO), copper-zinc superoxide dismutase (CuZn-SOD), catalase (CAT), glutathione peroxidase (GSH-Px), and total antioxidant capacity (T-AOC)] from the heart and kidney tissues of rats were detected by spectrophotometry to analyze the antioxidant effects of different low-dose insulin glargine interventions. Results:Compared with the sham group, the blood glucose of the rats in the delayed resuscitation control group was significantly increased, the heart and kidney functions were significantly reduced, the oxidation capacity was enhanced, and the antioxidant indicators were significantly reduced. After the intervention of insulin glargine, with the increase of insulin glargine dose, the blood glucose, myocardial enzyme and renal function indicators of rats showed a gradual downward trend, the oxidation indicators continued to decrease, and the antioxidant indicators showed a gradual upward trend. When the dose was 2.0 U·kg -1·d -1, the blood glucose, LDH, CK, CK-MB, α-HBDH, AST, BUN, SCr, XOD and MPO were significantly lower than those in the delayed resuscitation control group [blood glucose (mmol/L): 5.91±0.25 vs. 11.76±0.36, LDH (U/L): 3 332.12±51.61 vs. 5 008.94±490.12, CK (kU/L): 0.49±0.03 vs. 0.85±0.04, CK-MB (U/L): 125.40±12.19 vs. 267.52±11.63, α-HBDH (U/L): 122.99±5.37 vs. 240.85±13.99, AST (U/L): 11.95±1.81 vs. 17.87±1.57, BUN (mmol/L): 4.72±0.15 vs. 7.16±0.34, SCr (μmol/L): 87.11±6.51 vs. 137.50±11.36, XOD (U/g): 166.29±3.27 vs. 204.90±4.82 in heart tissue, 63.51±1.46 vs. 79.69±1.75 in kidney tissue, MPO (U/g): 1.05±0.02 vs. 1.55±0.06 in heart tissue, 1.04±0.04 vs. 1.87±0.01 in kidney tissue, all P < 0.05], and CuZn-SOD, CAT, GSH-Px and T-AOC were significantly higher than those in the delayed resuscitation control group [CuZn-SOD (kU/g): 82.95±2.69 vs. 56.52±2.26 in heart tissue, 94.50±2.73 vs. 62.02±1.66 in kidney tissue, CAT (U/g): 36.07±2.01 vs. 15.15±2.22 in heart tissue, 184.49±4.53 vs. 156.02±3.96 in kidney tissue, GSH-Px (kU/g): 231.93±8.03 vs. 179.48±3.15 in heart tissue, 239.63±7.30 vs. 172.20±2.09 in kidney tissue, T-AOC (kU/g): 4.85±0.23 vs. 2.71±0.11 in heart tissue, 5.51±0.08 vs. 3.50±0.07 in kidney tissue, all P < 0.05]. Conclusion:Different low-dose of insulin glargine (≤2.0 U·kg -1·d -1) could exert antioxidant protection on the heart and kidney of rats with delayed resuscitation after burns, with a dose-dependent manner.

Objective:To comparative analyze mammographic and clinicopathological findings of ductal carcinoma in situ (DCIS) and DCIS with microinvasion (DCISM), and to investigate the predictive factors for DCISM.Methods:A total of 626 patients with DCISM and DCIS confirmed by surgery and pathology in the Affiliated Hospital of Qingdao University from January 2016 to July 2020 were collected and underwent preoperative mammography. The X-ray findings of DCISM and DCIS patients were classified and diagnosed according to the Breast Imaging Reporting and Data System (BI-RADS) criteria. The differences in clinicopathological and radiographic findings between DCISM and DCIS patients were analyzed using χ 2 test or Fisher exact test. The risk factors of DCISM were evaluated by using univariate and multivariate binary logistic regression analysis. Results:Among the 626 cases, 171 were diagnosed as DCISM, 455 were diagnosed as DCIS. Large diameter (≥2.7 cm), high nuclear grade, comedo type, axillary lymph node metastasis, high Ki67 proliferation index, negativity of estrogen receptor and progesterone receptor were found to be predictors of DCISM in the univariate analysis (all P<0.05). And large diameter (≥2.7 cm)(OR 2.229,95% CI 1.505-3.301, P<0.001), high nuclear grade(OR 1.711,95%CI 1.018-2.875, P=0.043) and axillary lymph node metastasis(OR 4.140,95% CI 1.342-12.773, P=0.013) were found to be independent predictors of DCISM in the multivariate analysis (all P<0.05). Mammographically, the lesion types, the presence and distribution of calcification were statistically significant between DCIS and DCISM patients (χ 2=17.42, 9.65, 9.10, P<0.05). Up to 17.6% (80/455) of DCIS were occult leisions, and DCISM showed more lesions with calcification in mass, asymmetry, and architectural distortion (49.1%, 84/171). Grouped calcifications were usually associated with DCIS (41.5%, 120/289), while regional calcification were commonly found in DCISM (35.9%, 47/131). Conclusions:Lesions with calcification and regional calcification were more likely associated with DCISM on mammography. Large diameter (≥2.7 cm), high nuclear grade and axillary lymph node metastasis were found to be independent predictors of DCISM.