Objective To observe the clinical efficacy of continuous blood purification (CBP) combined with conventional methods for the treatment of heat stroke (HS). Methods Retrospective analysis was performed for clinical data of 38 patients with HS, including 6 cases in death group, 16 cases in observation group, and 16 cases in control group. The control group received conventional treatment, while the observation group was given early CBP combined with conventional treatment. Changes in vital signs such as blood pressure, respiration, heart rate, body temperature at admission and after treatment, and changes in inflammatory and biochemical indicators at 0, 24, 48 and 72 h were compared among the three groups. Results Compared with the indicators at admission, the respiratory rate, heart rate, and body temperature decreased in both the observation and control groups after treatment (P < 0.05). The inflammatory and biochemical indicators at initial admission were higher in the observation group than in the control group (P < 0.05). However, there was no statistical significance in inflammatory and biochemical indicators between the two groups after treatment (P>0.05). There were more sinus tachycardia cases in the observation group than in the control group at admission, and the number of cases with sinus bradycardia in the observation group was less than that in the control group after treatment (P < 0.05). Conclusion Early CBP combined with conventional treatment for HS can improve prognosis and reduce the case fatality rate.

Objective:To investigate the risk factors and their early warning effectiveness for the occurrence of early neurological deterioration (END) in patients with moderate traumatic brain injury (modTBI).Methods:A retrospective cohort study was conducted to analyze the clinical data of 265 patients with modTBI admitted to the Second Affiliated Hospital of Fuyang Normal University from January 2018 to April 2023. There were 165 males and 100 females, with age range of 20-91 years [(59.5±14.4)years]. The patients were divided into END group ( n=46) (17.4%) and non-END group ( n=219) (82.6%) according to whether the Glasgow Coma Score (GCS) decreased by 2 points or more within 72 hours after injury. Data of the two groups were recorded, including gender, age, basic diseases (hypertension and diabetes), cause of injury (traffic injuries, falls, etc), vomiting before admission, admission GCS, first CT scan time, epilepsy, brain contusion, subarachnoid hemorrhage, types of intracranial hematoma (epidural, subdural, and intracerebral hematoma), types of fracture (skull base fracture and skull fracture), laboratory indicators [platelet count (PLT), blood potassium level, serum total calcium concentration, thrombin time (TT), prothrombin time (PT), international normalized ratio (INR), activated partial thromboplastin time (APTT), level of fibrinogen (FIB), and level of D-dimer. Correlations between above-mentioned indicators and occurrence of END among modTBI patients were assessed and the independent risk factors were revealed by univariate and multivariate binary Logistic regression analysis. Receiver operating characteristic (ROC) curve and area under curve (AUC) were used to evaluate the early-warning effectiveness of each risk factor for END. Results:Univariate analysis showed that admission GCS, first CT scan time, epidural hematoma, subdural hematoma, intracerebral hematoma, serum potassium level, FIB and D-dimer were statistically correlated with occurrence of END among modTBI patients ( P<0.05 or 0.01). Multivariate binary Logistic regression analysis showed that admission GCS≤10 points ( OR=0.53, 95% CI 0.34, 0.84, P<0.01), first CT scan time≤2.0 hours ( OR=0.58, 95% CI 0.37, 0.92, P<0.05), epidural hematoma ( OR=0.26, 95% CI 0.10, 0.69, P<0.05), intracerebral hematoma ( OR=0.14, 95% CI 0.04, 0.44, P<0.01), level of FIB≤2.3 g/L ( OR=0.34, 95% CI 0.18, 0.64, P<0.01), level of D-dimer>10.4 mg/L ( OR=1.04, 95% CI 1.02, 1.07, P<0.01) were independent risk factors for END among modTBI patients. ROC curve analysis showed that the first CT scan time had relatively higher early warning value (AUC=0.79, 95% CI 0.74, 0.84), level of D-dimer (AUC=0.75, 95% CI 0.70, 0.80) and level of FIB (AUC=0.70, 95% CI 0.65, 0.76) had moderate early warning value, which was higher than that of admission GCS (AUC=0.62, 95% CI 0.56, 0.68), intracerebral hematoma (AUC=0.62, 95% CI 0.56, 0.68) and epidural hematoma (AUC=0.60, 95% CI 0.54, 0.66). The combination of the risk factors revealed superior early warning efficiency for END (AUC=0.90, 95% CI 0.85, 0.93). Conclusions:Admission GCS≤10 points, first CT scan time≤2.0 hours, epidural hematoma, intracerebral hematoma, level of FIB≤2.3 g/L and level of D-dimer>10.4 mg/L are independent risk factors for END among modTBI patients. The early warning value of the first CT scan is the highest, followed by D-dimer and FIB, and the early warning effectiveness of admission GCS, intracerebral hematoma and epidural hematoma is ordinary.The combination of the above risk factors has better early warning efficiency for occurrence of END among modTBI patients.

Objective:To analyze the clinical and molecular genetic characteristics of a Chinese family with congenital cataract-microcornea syndrome.Methods:The method of pedigree investigation was adopted.A Chinese Han family with congenital cataract-microcornea syndrome was recruited in Xiamen Eye Center of Xiamen University.All the family members received detailed ophthalmologic examination including the best corrected visual acuity, intraocular pressure measurement by handheld applanation tonometry, slit lamp biomicroscopy, color fundus photography, B-scan ultrasonography, corneal diameter, anterior segment optical coherence tomography, ultrasound biomicroscopy, corneal endoscopy, and corneal topography.Genomic DNA was extracted from peripheral venous blood from some patients and unaffected family members.Targeted high-throughput DNA sequencing was performed on the proband.The sequencing chip contained 188 known pathogenic genes related to lens abnormalities.Suspected pathogenic genes were verified by Sanger sequencing in phenotypically normal family members to identify the co-segregation and the disease-causing gene.Bioinformatics analysis was performed to analyze the pathogenicity of variants by REVEL.Conserved protein domains were analyzed by InterPro.Physicochemical property of the mutant protein was analyzed by ProtParam.The deleteriousness of the protein was predicted by PolyPhen-2.Homology of the variants in pathogenic gene was analyzed by NCBI website to compare the conservation among various species.This study followed the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.XMYKZX-LW-2009-003).Written informed consent was obtained from each subject prior to entering the study cohort.Results:There were 39 members of 4 generations in this family including 11 patients with an autosomal dominant inheritance pattern.Clinical features of the patients included congenital cataract and microcornea.No obvious abnormality was found in ophthalmic and general examination.A heterozygous mutation c. 61C>T in the CRYAA gene was found, resulting in the mutation of the amino acid from arginine to tryptophan (p.Arg21Trp) at position 21, consistent with co-segregation.The number of cationic cluster in the mutant protein decreased, and the hydrophilicity and stability were reduced.The variant was predicted to be deleterious and was highly conserved in multiple species. Conclusions:A novel heterozygous mutation c.61C>T p. Arg21Trp in CRYAA gene is considered as the causal gene of this family.It is the first time this variant has been reported in China.

Objective:To investigate the correlation between neutrophil/lymphocyte ratio (NLR) combined with low-density lipoprotein cholesterol/high-density lipoprotein cholesterol ratio (LDL-C/HDL-C) and severity of coronary lesions in patients with acute coronary syndrome (ACS).Methods:Patients who were diagnosed with ACS due to chest pain and received emergency coronary angiography in the First Affiliated Hospital of University of Science and Technology of China and the Affiliated Hospital of Anhui Medical University from January 2017 to June 2020 were enrolled in the final analysis. The data of gender, age, body mass index (BMI), past history, emergency blood routine indicators [neutrophil (NEU), lymphocyte (LYM), monocyte (MON), eosinophil (EOS), basophil (BAS), red blood cell (RBC), mean corpuscular volume (MCV), blood red cell distribution width (RDW), mean platelet volume (MPV), platelet volume distribution width (PDW)], blood lipid index [triglyceride (TG), total cholesterol (TC), HDL-C, LDL-C, very low-density lipoprotein cholesterol (VLDL-C)], and coronary angiography were collected. The results of coronary angiography were evaluated by the Gensini score. According to the Gensini score, the patients were divided into the control group (Gensini score = 0, 55 cases) and the study group (Gensini score > 0, 889 cases), and then the patients in the study group were divided into the low-Gensini-score group (Gensini score < 66, 419 cases) and the high-Gensini-score group (Gensini score ≥ 66, 470 cases). The differences in the general baseline data of the four groups were compared, and the correlation between the statistically significant data and the Gensini score was linearly analyzed, and then the combined diagnostic factors (NLR combined with LDL-C/HDL-C ratio) were obtained by Logistic regression analysis. The receiver operator characteristic curve (ROC curve) was used to evaluate the predictive value of NLR combined with LDL-C/HDL-C ratio in predicting the severity of coronary artery lesions in patients with ACS. Finally, multivariate linear regression analysis was used to establish the predictive model between NLR combined with LDL-C/HDL-C ratio and Gensini score.Results:A total of 944 patients were finally included. The differences in gender, age, BMI, hypertension, diabetes, smoking history, NEU, LYM, MON, EOS, RDW, TC, HDL-C, LDL-C, NLR, LDL-C/HDL-C ratio between the control group and the study group were statistically significant. The differences in BMI, hypertension, diabetes, smoking history, NEU, LYM, MON, EOS, TG, TC, HDL-C, LDL-C, NLR and LDL-C/HDL-C ratio between the low-Gensini-score group and the high-Gensini-score group were statistically significant. Linear regression analysis showed that compared with other indicators, the correlation between NLR, LDL-C/HDL-C ratio and Gensini score was stronger in the study group ( r values were 0.634 and 0.663, respectively, both P < 0.05). Binary Logistic regression analysis of the indicators related to Gensini score showed that NEU, LYM, HDL-C and LDL-C were independent risk factors for coronary stenosis in patients with ACS [odds ratio ( OR) were 0.189, 10.309, 13.993, 0.251, 95% confidence intervals (95% CI) were 0.114-0.313, 4.679-22.714, 3.402-57.559, 0.121-0.519, respectively, all P < 0.05]. ROC curve analysis showed that NLR combined with LDL-C/HDL-C ratio had higher predictive value in predicting the severity of coronary lesions in ACS patients [area under the ROC curve (AUC) was 0.952, 95% CI was 0.93-0.969], when the cutoff value was -3.152, the sensitivity was 98.20%, and the specificity was 81.60%. According to the results of multivariate linear regression analysis, the prediction model between NLR, LDL-C/HDL-C ratio and Gensini score was established, and the formula was Gensini score = -7.772+15.675×LDL-C/HDL-C ratio+8.288×NLR ( R2 = 0.862). Conclusion:There is a significant correlation between emergency NLR combined with LDL-C/HDL-C ratio and Gensini score in patients with ACS at admission, which has a certain predictive value for the severity of coronary artery stenosis in patients with ACS, and can be used as a predictor for evaluating the severity of coronary artery disease.

We conducted a randomized, open-label, parallel-controlled, multicenter trial on the use of Shuanghuanglian (SHL), a traditional Chinese patent medicine, in treating cases of COVID-19. A total of 176 patients received SHL by three doses (56 in low dose, 61 in middle dose, and 59 in high dose) in addition to standard care. The control group was composed of 59 patients who received standard therapy alone. Treatment with SHL was not associated with a difference from standard care in the time to disease recovery. Patients with 14-day SHL treatment had significantly higher rate in negative conversion of SARS-CoV-2 in nucleic acid swab tests than the patients from the control group (93.4% vs. 73.9%, P = 0.006). Analysis of chest computed tomography images showed that treatment with high-dose SHL significantly promoted absorption of inflammatory focus of pneumonia, which was evaluated by density reduction of inflammatory focus from baseline, at day 7 (mean difference (95% CI), -46.39 (-86.83 to -5.94) HU; P = 0.025) and day 14 (mean difference (95% CI), -74.21 (-133.35 to -15.08) HU; P = 0.014). No serious adverse events occurred in the SHL groups. This study illustrated that SHL in combination with standard care was safe and partially effective for the treatment of COVID-19.
COVID-19 ; Humans ; Medicine, Chinese Traditional ; Research ; SARS-CoV-2 ; Treatment Outcome

OBJECTIVE: To explore the clinical and genetic characteristics of a child featuring developmental delay. METHODS: The child was subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: Whole genome sequencing revealed that the child has carried compound heterozygous variants c.2607-1G>C and c.899 + 2dupT of the RAB3GAP1 gene, which were respectively derived from her mother and father. CONCLUSION A rare case of Warburg micro syndrome type 1 was diagnosed. The phenotype of the child was consistent with the literature, in addition with dysplasia of palatine arch, prominent high palatal arch and tooth dysplasia. Above finding has provided a basis for genetic counseling and prenatal diagnosis for the family.
Abnormalities, Multiple/genetics* ; Adult ; Cataract/genetics* ; Child ; Cornea/abnormalities* ; Female ; Humans ; Hypogonadism/genetics* ; Intellectual Disability/genetics* ; Male ; Microcephaly/genetics* ; Mutation ; Optic Atrophy/genetics* ; Whole Exome Sequencing ; rab3 GTP-Binding Proteins/genetics*

Objective To explore the histological basis of diffusion tensor tractography (DTT)fiber tracer images of benign prostatic hyperplasia (BPH)and prostate cancer (PCa).Methods Sixty-eight patients with PCa and sixty patients with BPH confirmed by pathology were recruited for this study.Conventional MRI and DTI examinations were performed.The original DTI data were processed at the AW4.5 workstation.After pos-t processed,FA and ADC values were recorded,DTT was plotted.Fiber bundle travel was observed and scored by two senior radiologists.The BPH and PCa specimens were stained with Masson fibers,and the diameter and angle of the fiber bundles were recorded.Results The FA values of BPH and PCa were 0.22±0.05 and 0.47±0.01 ,respectively.ADC values of BPH and PCa were (1.31 ±0.27)×10－3 mm2/s and (0.6 1 ±0.09)× 10－3 mm2/s,respectively.The differences in ADC and FA values among BPH and PCa were statistically significant (P＜0.05).DTT showeded that the fibers of BPH were dense and long,while the fibers of PCa were messy and short.The diameter and angle of collagen fibers and smooth muscle fibers for BPH were both larger than those for PCa,but only the difference between the diameter of smooth muscle fibers was statistically significant (P＜0.05).Conclusion There are significant differences between BPH and PCa in DTT images,which is consistent with the characteristics of fiber structure.DTI fiber bundle can reflect the differences of fiber structure between BPH and PCa.

Objective To explore the diagnostic value of ESWAN in uterine fibroids by analyzing the ESWAN signal of uterine fibroid. Methods Conventional MRI and ESWAN were carried out in thirty-seven patients with uterine fibroids.The differences of ESWAN indexes between uterine fibroids and myometrium were analyzed by paired t-test.The value of ESWAN on diagnosing uterine fibroids was analyzed by receiver operating characteristic curve(ROC curve).Results The magnitude value,phase value,R2* value and T2*value of uterine fibroids were 1 661.69 ± 45.24,(0.006 7 ± 0.007 7)Hz,(26.69 ± 1.04)Hz and(34.68 ± 1.73)ms,respectively.The magnitude value,phase value,R2* value and T2* value of myometrium were 1 790.95 ± 49.04,(0.013 1 ± 0.011 8)Hz,(22.35 ± 0.84)Hz and(42.53 ± 2.16)ms.The magnitude value,phase value and T2* value of uterine fibroids were lower than those of myometrium (P=0.008,P=0.659 and P=0.002).While the R2* value of of uterine fibroids was higher than that of myometrium(P=0.001). The area under curve(AUC)of magnitude value,phase value,R2* value and T2* value were 0.604,0.553,0.666 and 0.662.Conclusion ESWAN can show the differences between uterine fibroids and myometrium ，while the ability to independently diagnose uterine fibroids was modest.

Objective To explore the value of enhanced T2 star weighted angiography(ESWAN)in the treatment of uterine fibroids with high intensity focus ultrasound(HIFU) by analyzing the changes of ESWAN. Methods Uterine fibroids were detected through pelvic conventional MRI and ESWAN 1 day before and after HIFU operation. Different indexes of ESWAN were measured ,and differences were compared with the paired t-test. Results The preoperative and postoperative values of magnitude were 1624.59 ± 53.07 and 1750.13 ± 39.81, phase values were 0.0012 ± 0.0081 Hz and 0.0025 ± 0.1063 Hz,R2*value were 27.69 ± 1.27 Hz and 24.19 ± 1.20 Hz,and T2*values were 34.66 ± 2.07 ms and 36.46 ± 2.14 ms. After HIFU operation,magnitude value,phase value and T2*value were higher(P=0.04,P=0.91 and P=0.45),and R2*value was lower(P=0.019). Conclusions ESWAN can provide more information about histopathologic changes of uterine fibroids after HIFU.

Objective To study the clinical value of DTI in the evaluation of high intensity focused ultra-sound (HIFU) for treating uterine fibroids by analyzing the characteristics of DTI before and after surgery. Methods DTI was performed before and after HIFU. The study included 25 patients with 30 uterine fibroids. All data were processed using GE AW4.5 Workstation. ADC,FA,VRA and T2-weighted trace of uterine fibroids before and after HIFU were recorded and analyzed. Results After HIFU,no enhancement was observed in uterine fibroids on DCE-MRI. The signal of uterine fibroids on FA,VRA map was lower after HIFU. No statistical differences were found between ADC and T2-weighted trace before and after the surgery(P>0.05). FA and VRA of uterine fibroids after HIFU were lower than those before the surgery(P<0.05). Conclusion FA and VRA can reflect micro differ-ence of uterine fibroids before and after HIFU ,which is useful for assessing the curative effect after HIFU.