17q12 microdeletion syndrome is a rare genetic disease,commonly characterized by newly occurring mutations,which can cause abnormalities of the urinary and reproductive tract,diabetes mellitus,neurological and psychiatric disorders and mild deformities.This article reports a case of 17q12 microdeletion syndrome with CRYBB2 gene missense mutation,combined with menstrual abnormalities,multiple cysts in both kidneys,hypomagnesemia,hyperuricemia,small pancreatic morphology and low pancreatic enzyme levels.

Objective:To investigate the effect and the neural mechanisms of Apelin-13 on the behavior changes of posttraumatic stress disorder (PTSD) model mice.Methods:Totally 32 SPF grade male C57BL/6J mice aged 6 weeks were divided into 4 groups randomly ( n=8 in each group): control group, model group, normal saline group and Apelin-13 group.The mice model of PTSD was established by single-prolonged stress (SPS) method. The mice in normal saline group and Apelin-13 group were respectively given lateral ventricular microinjection of 0.9% sodium chloride solution (2 μL) and Apelin-13 (1.5 μg/μL, 2 μL)after PTSD modeling. The behaviors of mice were evaluated by open field test, elevated plus maze test and Morris water maze test.The morphological structure and numerical changes of hippocampal neurons were observed by hematoxylin and eosin (HE) staining.The expression of phosphoinositide 3-kinase(PI3K), phosphorylated-PI3K(p-PI3K), protein kinase B(Akt), phosphorylated-Akt (p-Akt), forkhead box O3a (FoxO3a), phosphorylated-FoxO3a(p-FoxO3a), autophagy-related proteins including microtubule-associated protein 1 light chain 3(LC3) and sequestosome 1(p62) were detected by Western blot. SPSS 26.0 software was used for data analysis.The escape latency data of repeated learning training in Morris water maze was conducted by repetitive measurement ANOVA.The comparison of other data among multiple groups was conducted by one-way ANOVA and further pairwise comparisons were conducted by LSD test and Tamhane test. Result:(1) Open field test results showed statistically significant differences in the central area activity distance and residence time in central area among mice in the four groups ( F=15.37, 9.63, both P<0.05). The central area activity distance ((0.06±0.03) m) and residence time ((2.48±1.02) s) of the mice in model group were lower than those of the control group ((0.19±0.05) m, (15.00±8.91) s)(both P<0.05). And the central area activity distance((0.12±0.04)m)and the residence time((13.56±7.64)s)were higher than those of model group((0.06±0.03)m, (2.48±1.02)s)and normal saline group((0.06±0.02)m, (2.82±1.52)s)(all P<0.05). Elevated plus maze test results showed statistically significant differences in the numbers and time entering open arms among the four groups ( F=10.74, 19.12, both P<0.05). The numbers((4.50±2.51) times) and the time ((26.95±17.48) s) entering the open arm of mice in model group were both lower than those of the control group ((13.75±4.71) times, (103.75±42.43)s) and Apelin-13 group ((10.00±5.18) times, (55.98±19.49) s) (all P<0.05). Morris water maze test results showed that in the 4-day learning and training phase, the time and group interaction of escape latency was not significant among the four groups ( F=1.15, P=0.34), but time main effect and group main effect were significant ( F=131.65, 16.98, both P<0.05). On the 2nd to 4th day, mice in model group showed significantly increased escape latency than mice in control group and Apelin-13 group(both P<0.05). And the numbers crossing original platform and the time in the target quadrant of Apelin-13 group were both higher than those of model group and normal saline group (all P<0.05). (2) HE staining results showed that neurons in the hippocampal CA1 and CA3 area of mice in model group and normal saline group were swollen and arranged loosely.The hippocampal neurons in control group and Apelin-13 group were arranged neatly and densely. (3) Western blot results showed statistically significant differences in the protein expression of p-PI3K, p-Akt, p-FoxO3a, p62 and the ratio of LC3Ⅱ/LC3Ⅰ among the four groups ( F=21.37, 37.35, 20.71, 13.26, 37.65, all P<0.05). The protein expression of p-PI3K, p-Akt, p-FoxO3a and p62 in Apelin-13 group((0.92±0.07), (0.90±0.09), (0.89±0.13), (1.03±0.08)) were higher than those in model group((0.59±0.04), (0.50±0.07), (0.49±0.11), (0.68±0.04)) and normal saline group((0.61±0.06), (0.50±0.08), (0.53±0.11), (0.70±0.05))(all P<0.05), and the ratio of LC3Ⅱ/LC3Ⅰ in Apelin-13 group(0.60±0.06) was lower than those in model group(0.92±0.10) and normal saline group(0.99±0.05) (both P<0.05). Conclusion:Apelin-13 can alleviate the anxiety-like behavior and impaired spatial learning and memory in PTSD model mice. The mechanism may be related to the up-regulation of PI3K/Akt/FoxO3a autophagy pathway.

The essence of clinical practice guidelines lies in their recommendations. It is common to find strong recommendations supported by low-quality evidence in current published guidelines. There is a typical misunderstanding among medical professionals that without high-quality evidence, it is impossible to develop high-quality guidelines or only expert consensus can be developed. Based on the GRADE approach, this paper explains the concept and clinical significance of low-quality evidence, and introduces the methods for formulating recommendations based on low-quality evidence in guidelines, with the aim to provide reference for guideline developers and users in China.

Purpose: The risk stratification of pediatric anaplastic large cell lymphoma (ALCL) has not been standardized. In this study, new risk factors were included to establish a new risk stratification system for ALCL, and its feasibility in clinical practice was explored. Materials and Methods: On the basis of the non-Hodgkin’s lymphoma Berlin–Frankfurt–Munster 95 (NHL-BFM-95) protocol, patients with minimal disseminated disease (MDD), high-risk tumor site (multiple bone, skin, liver, and lung involvement), and small cell/lymphohistiocytic (SC/LH) pathological subtype were enrolled in risk stratification. Patients were treated with a modified NHL-BFM-95 protocol combined with an anaplastic lymphoma kinase inhibitor or vinblastine (VBL). Results: A total of 136 patients were enrolled in this study. The median age was 8.8 years. The 3-year event-free survival (EFS) and overall survival of the entire cohort were 77.7% (95% confidence interval [CI], 69.0% to 83.9%) and 92.3% (95% CI, 86.1% to 95.8%), respectively. The 3-year EFS rates of low-risk group (R1), intermediate-risk group (R2), and high-risk group (R3) patients were 100%, 89.5% (95% CI, 76.5% to 95.5%), and 67.9% (95% CI, 55.4% to 77.6%), respectively. The prognosis of patients with MDD (+), stage IV cancer, SC/LH lymphoma, and high-risk sites was poor, and the 3-year EFS rates were 45.3% (95% CI, 68.6% to 19.0%), 65.7% (95% CI, 47.6% to 78.9%), 55.7% (95% CI, 26.2% to 77.5%), and 70.7% (95% CI, 48.6% to 84.6%), respectively. At the end of follow-up, one of the five patients who received maintenance therapy with VBL relapsed, and seven patients receiving anaplastic lymphoma kinase inhibitor maintenance therapy did not experience relapse. Conclusion This study has confirmed the poor prognostic of MDD (+), high-risk site and SC/LH, but patients with SC/LH lymphoma and MDD (+) at diagnosis still need to receive better treatment (ClinicalTrials.gov number, NCT03971305).

Traditional Chinese Medicine (TCM) has its own unique features in the treatment of post-stroke depression (PSD). The kidney is the congenital foundation and is closely related to the brain. Kidney deficiency runs through the entire course of stroke. Liver regulates the normal operation of qi in the human body, which is closely related to depression syndrome. Kidney deficiency and liver depression affect each other. The treatment of PSD with the Bushen Shugan (tonifying the kidney and soothing the liver) method has achieved good efficacy in clinic. The method of tonifying kidney and soothing liver can not only reflect the holistic view of TCM and the association of viscera, but also coordinate the relationship between body and spirit. In the future, the development direction of PSD in TCM research should be to further strengthen the concept of co-regulation of body and spirit and integration of brain and viscera.

Objective:To evaluate the consistency of individual iodine nutrition levels by serum iodine, plasma iodine and whole blood iodine, and to provide reference for iodine-related epidemiological investigation.Methods:Healthy adults aged 18 - 59 years were recruited from the Research Center of Environment and Health in Water Source Area of South-to-North Water Diversion of Hubei University of Medicine. Whole blood sample was collected and serum and plasma were separated. The content of iodine in serum, plasma and whole blood was determined by inductively coupled plasma mass spectrometry (ICP-MS), and the linear relationship, precision and accuracy of the standard curve of the detection method were evaluated. The difference of three kinds of blood iodine levels was analyzed by variance analysis of compatibility group design, and Passing-Bablok regression and Bland-Altman plot were used to evaluate the consistency between serum iodine and plasma iodine.Results:The linear range of iodine in serum, plasma and whole blood was 0.0 - 25.0 μg/L, and the correlation coefficients ( R2) were all > 0.999. The relative standard deviation of 8 mixed blood samples ranged from 1.9% to 4.3% ( n = 6), and the determination results of blood iodine certified standard substances were all within the reference range. The recovery rate of the added standard ranged from 99% to 106%. The iodine levels in serum, plasma and whole blood of 50 volunteers were (57.31 ± 8.06), (57.49 ± 8.50) and (33.89 ± 5.40) μg/L, respectively, and there was no statistically significant difference between serum iodine and plasma iodine ( P = 0.904). The results of Passing-Bablok regression showed that there was no statistically significant difference in bias between serum iodine and plasma iodine ( P = 0.538). The Bland-Altman plot indicated that the difference between serum iodine and plasma iodine was within the consistency limit. Conclusion:The results of plasma iodine and serum iodine are in good agreement, and plasma iodine can be used as an evaluation index of individual iodine nutrition level. But there is no consistency between whole blood iodine and serum iodine.

Objective:To evaluate the efficacy of dexmedetomidine on painless gastroenteroscopy in the patients recovered from COVID-19.Methods:Eighty patients of either sex, aged 18-64 yr, with body mass index <30 kg/m 2, undergoing elective painless gastroenteroscopy, of American Society of Anesthesiologists physical statusⅠor Ⅱ, within 2nd to 7th weeks after diagnosis of COVID-19, who had a negative nucleic acid test or antigen test at present and presented with no respiratory symptoms in our hospital from January to February 2023, were selected and divided into 2 groups ( n=40 each) using a random number table method: dexmedetomidine group (group D) and control group (group C). Sufentanil 0.1 μg/kg was intravenously injected in two groups. Dexmedetomidine 0.2 μg/kg was intravenously injected in group D, and the equal volume of normal saline was given instead in group C. Propofol 1.5-2.0 mg/kg was intravenously injected after 2-3 min observation, and propofol 5-7 mg·kg -1·h -1 was intravenously infused to maintain sedation during operation. The development of bucking and hypoxemia during operation, total consumption of propofol, emergence time, time of hospital discharge, development of bradycardia and hypotension during operation, and scores for patients′ and endoscopic physicians′ satisfaction with anesthesia were recorded. Results:Compared with group C, the incidence of bucking and hypoxemia was significantly decreased, scores for endoscopic physicians′ satisfaction with anesthesia were increased ( P<0.05), and no significant change was found in the other parameters in group D ( P>0.05). Conclusions:Low-dose dexmedetomidine can reduce the risk of bucking and hypoxemia during operation and raise the quality of anesthesia in the patients recovered from COVID-19 undergoing painless gastroenteroscopy.

Objective:To investigate the influence of Barbecure combined with Epley on residual dizziness of horizontal canal benign paroxysmal positional vertigo（HC-BPPV） by SRM-vertigo diagnosis system. Methods:A total of 406 patients diagnosed with HC-BPPV from Nov 2021 to Nov 2022 were enrolled by rapid axial roll test and Dix-Hallpike in the department of Otorhinolaryngology Head and Neck Surgery, the First Affiliated Hospital of Xi'an Jiaotong University. The patients were divided into two groups by hospital card numbers, in which the numbers that were odd were considered as group A, and the numbers that were even were considered as group B. The group A underwent two circles of Barbecure repositioning procedure by SRM-vertigo diagnosis system, while the group B underwent two circles Barbecure combined with Epley repositioning procedure by SRM-vertigo diagnosis system. The treatment was stopped on the next day when two groups of patients were cured, and those who were not cured will continue treatment with the same method. Results:The cure rate of group A was 83.41%, and the cure rate of group B was 80.51%, the difference between the two groups was not-statistically significant difference（P>0.05）. The rate of residual dizziness of group A was 23.30%, the rate of residual dizziness of group B was 11.46%, the difference between the two groups was statistically significant（P<0.05）. Conclusion:The Barbecure combined with Epley otoliths repositioning maneuver by SRM-vertigo diagnosis system can significantly reduce the rate of residual dizziness after the treatment of HC-BPPV, and improve the quality of life of patients.
Humans ; Benign Paroxysmal Positional Vertigo/therapy* ; Dizziness ; Quality of Life ; Patient Positioning/methods* ; Semicircular Canals

BACKGROUND: Amygdala plays an important role in the neurobiological basis of panic disorder (PD), and the amygdala contains different subregions, which may play different roles in PD. The aim of the present study was to examine whether there are common or distinct patterns of functional connectivity of the amygdala subregions in PD using resting-state functional magnetic resonance imaging and to explore the relationship between the abnormal spontaneous functional connectivity patterns of the regions of interest (ROIs) and the clinical symptoms of PD patients. METHODS: Fifty-three drug-naïve, non-comorbid PD patients and 70 healthy controls (HCs) were recruited. Seed-based resting-state functional connectivity (rsFC) analyses were conducted using the bilateral amygdalae and its subregions as the ROI seed. Two samples t test was performed for the seed-based Fisher's z -transformed correlation maps. The relationship between the abnormal spontaneous functional connectivity patterns of the ROIs and the clinical symptoms of PD patients was investigated by Pearson correlation analysis. RESULTS: PD patients showed increased rsFC of the bilateral amygdalae and almost all the amygdala subregions with the precuneus/posterior cingulate gyrus compared with the HC group (left amygdala [lAMY]: t  = 4.84, P  <0.001; right amygdala [rAMY]: t  = 4.55, P  <0.001; left centromedial amygdala [lCMA]: t  = 3.87, P  <0.001; right centromedial amygdala [rCMA]: t  = 3.82, P  = 0.002; left laterobasal amygdala [lBLA]: t  = 4.33, P  <0.001; right laterobasal amygdala [rBLA]: t  = 4.97, P  <0.001; left superficial amygdala [lSFA]: t  = 3.26, P  = 0.006). The rsFC of the lBLA with the left angular gyrus/inferior parietal lobule remarkably increased in the PD group ( t  = 3.70, P  = 0.003). And most of the altered rsFCs were located in the default mode network (DMN). A significant positive correlation was observed between the severity of anxiety and the rsFC between the lSFA and the left precuneus in PD patients ( r  = 0.285, P  = 0.039). CONCLUSIONS Our research suggested that the increased rsFC of amygdala subregions with DMN plays an important role in the pathogenesis of PD. Future studies may further explore whether the rsFC of amygdala subregions, especially with the regions in DMN, can be used as a biological marker of PD.
Humans ; Panic Disorder ; Magnetic Resonance Imaging/methods* ; Amygdala ; Gyrus Cinguli ; Comorbidity

Schizothorax argentatus that only distributes in the Ili River basin in Xinjiang is one of the rare and endangered species of schizothorax in China, thus has high scientific and economic values. In this study, the complete mitochondrial genome sequence of S. argenteus with a length of 16 580 bp was obtained by high-throughput sequencing. The gene compositions and arrangement were similar to those of typical vertebrates. It contained 13 protein-coding genes, 22 tRNA genes, 2 rRNA genes, and a non-coding region (D-loop). The nucleotide compositions were A (30.25%), G (17.28%), C (27.20%), and T (25.27%), respectively, showing obvious AT bias and anti-G bias. Among the tRNA genes, only tRNA-Ser^(GCU) could not form a typical cloverleaf structure due to the lack of dihydrouracil arm. The AT-skew and GC-skew values of the ND6 gene were fluctuating the most, suggesting that the gene may experience different selection and mutation pressures from other genes. The mitochondrial control region of S. argenteus contained three different domains, i.e., termination sequence region (ETAS), central conserved region (CSB-F, CSB-E, CSB-D, and CSB-B), and conserved sequence region (CSB1, CSB2, and CSB3). The conserved sequence fragment TT (AT) nGTG, which was ubiquitous in Cypriniformes, was identified at about 50 bp downstream CSB3. Phylogenetic relationships based on the complete mitochondrial genome sequence of 28 Schizothorax species showed that S. argenteus had differentiated earlier and had a distant relationship with other species, which may be closely related to the geographical location and the hydrological environment where it lives.
Animals ; Genome, Mitochondrial/genetics* ; Phylogeny ; Sequence Analysis, DNA ; Cyprinidae/genetics* ; RNA, Transfer/genetics* ; DNA, Mitochondrial/genetics* ; Genes, Mitochondrial