Genetic analysis of two children with Coffin-Siris syndrome due to variants of ARID1B gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of two children with unexplained psychomotor developmental delay and facial dysmorphisms suggestive of Coffin-Siris syndrome (CSS).@*METHODS@#A boy and a girl suspected for CSS at the 980th Hospital of the People's Liberation Army Joint Service Support Force respectively in July 2019 and January 2021, and seven members from their families, were selected as the study subjects. Clinical data and family history of the children were collected, and detailed physical examination was carried out, in addition with laboratory and related auxiliary examinations. Potential variants and copy number variations (CNVs) were detected by whole exome sequencing (WES) and copy number variation sequencing (CNV-seq).@*RESULTS@#Child 1, an 8-month-old female, had featured microcephaly, atrial septal defect, curving of fifth finger/toe, and low limb muscle tone. Child 2 was a 2.5-year-old male with language delay, social impairment, dense hair but no curving of the fifth fingers. Genetic testing revealed that child 1 had loss of heterozygosity for exons 8 to 21 of the ARID1B gene, which was unreported previously. Family verification showed that both of her parents were of the wild type. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and American Society of Molecular Pathology (AMP), the variant was rated as pathogenic (PVS1+PS2+PM2-supporting). Child 2 was found to harbor a heterozygous c.4263-6 (IVS17) T>G variant of the ARID1B gene. Transcriptome sequencing confirmed that the variant can affect the normal splicing, resulting in retention of a 5 bp sequence in intron 17. Family verification showed that both of his parents were of the wild type. Based on the guidelines from the ACMG, the variant was rated as pathogenic (PS2+PM2-supporting+PP3+PS3).@*CONCLUSION@#WES and RNA-seq have confirmed the diagnosis of CSS in both children. Discovery of the novel variants has expanded the spectrum of pathogenic mutations underlying CSS, and provided a basis for the genetic counseling.

Diallyl disulfide augments sensitivity of DJ-1 overexpressed human gastric cells to 5-FU / 中国药理学通报

Aim To investigate whether diallyl disul-fide (DADS) augments the sensitivity of DJ-1 (protein/ nucleic acid deglycase) overexpressed human gastric SGC7901 cells to 5-FU (5-fluorouracil). Methods The experimental groups include control group, DADS group, VCR (vincristine) group, VCR + DADS group, DJ-1 group, DJ-1 + DADS group. MTT was used to analyze the effect of DADS on 5 -FU (5 -fluorou- racil) induced proliferation inhibition. Flow cytometry was performed to examine the effect of DADS on cell apoptosis. RT-PCR, Western blot, and immunofluo-rescence were used for determine the effect of DADS on the drug resistance associated gene expression. Results DADS enhanced the proliferation inhibitory effect of 5-FU on DJ-1 overexpressed cells and VCR resistant cells. DADS could induce apoptosis in VCR-resistant cells. DADS downregulated the expression of DJ-1 while inducing apoptosis in DJ-1 overexpressed cells. DJ-1 overexpression upregulated the expression of P-gp (P-glycoprotein), Bcl-2, and XIAP (X-linked inhibitor of apoptosis protein), downregulated the expression of caspase-3. DADS decreased the expression of P-gp, Bcl-2, and XIAP, while increased the expression of caspase-3 in DJ-1 overexpressed cells and VCR-resistant cells. Conclusions DADS can augment the sensitivity of DJ-1 overexpressed cells to 5-FU, which is related to its antagonism against DJ-1 mediated upregula- tion of P-gp, Bcl-2, XIAP, and downregulation of caspase-3.

Effects of different storage and transportation devices on the temperatures of “internet plus drug delivery”in hospital under high-temperature conditions in summer / 中国药房

OBJECTIVE To explore suitable storage and transportation conditions for “internet plus drug delivery” under high- temperature conditions. METHODS A survey on high-temperature conditions in summer in Beijing was conducted； a retrospective analysis was conducted on “internet plus drug delivery” orders in our hospital from July 2021 to June 2022， summarizing the proportion and delivery range of drugs under different storage and transportation conditions. Additionally， simulation and validation experiments were performed to investigate optimal drug storage and transportation devices for “internet plus drug delivery” in Beijing under high-temperature conditions in summer. RESULTS The monthly average temperature in Beijing from June to August consistently exceeded 25.0 ℃ between 1991 and 2022. From July 2021 to June 2022， a total of 104 drugs were required to be stored below 25.0 ℃， accounting for 31.23% of the 333 drugs listed in our hospital’s “internet plus drug delivery” catalog in Beijing. These drugs were delivered 1 058 times， accounting for 19.63% of the total deliveries. Simulation and validation experiments demonstrated that the average maximum temperature during the next-day delivery process of “carton + foam box + composite aluminum film pearl cotton + 500 g ice bag×2 + gas column bag” was 9.6 ℃， the average minimum temperature was 2.7 ℃， and all the temperatures remained below 15.0 ℃， which could effectively ensure the quality of drugs. CONCLUSIONS Under the high-temperature conditions in summer in Beijing， the storage and transportation device of “carton + foam box + composite aluminum film pearl cotton + 500 g ice bag×2 + gas column bag” can meet the temperature requirements specified in the drug storage instructions for Beijing intra-city drug delivery.

The trend of changes in spine-pelvic sagittal parameters before and after surgery in patients with double-segment lumbar spondylolisthesis and their evaluating for surgery efficacy / 中国骨伤

OBJECTIVE@#To explore the trend of changes in the parameters of the spine-pelvic sagittal plane before and after surgery in patients with double-segment lumbar spondylolisthesis (LSL) and to evaluate the value of the surgical effect.@*METHODS@#A retrospective analysis of 95 double-segment lumbar spondylolisthesis patients treated with posterior lumbar interbody fusion from October 2019 to October 2020 were analyzed, including 31 males and 64 females;age ranging from 41 to 63 years old, with an average of (52.10±4.35) years old;degree of lesion, 47 patients with gradeⅠand 48 patients with gradeⅡ. The surgical efficacy was evaluated according to the Oswestry dysfunction index(ODI) improvement rate at 3 months after operation. ODI improvement rate ≥50% was considered good, and <50% was considered bad. Ninety-five patients were divided into good curative effect group (74 cases) and poor curative effect group (21 cases) according to surgical curative effect. The clinical data, such as gender, age, body mass index, course of disease, degree of disease, operation time, intraoperative blood loss, and comorbidities were compared between two groups were compared. The parameters of spine pelvis sagittal plane were observed before and 3 months after operation, including spine sacral angle (SSA), T1 pelvic angle (TPA), lumbar lordosis (LL), pelvic incidence (PI), pelvic tilt (PT), sacral slope (SS). Clinical symptoms were evaluated using visual analogue scale (VAS) and ODI. The correlation between the changes of spine pelvis sagittal plane parameters and the changes of VAS and ODI before and after surgery were analyzed, and the value of spine pelvis sagittal plane parameters in evaluating the surgical efficacy of patients with double level lumbar spondylolisthesis at 3 months after surgery was evaluated.@*RESULTS@#The courses of disease and surgical time in the group with poor efficacy were longer than those in the group with good efficacy, and the degree of lesion was higher in the group with poor efficacy (P<0.05). The SSA, TPA, LL, and SS of the group with good efficacy were higher than those of the group with poor efficacy before and 3 months after surgery, while the PT was lower than that of the group with poor efficacy (P<0.05). The changes in SSA, TPA, LL, PT, and SS before and after surgery in the group with good efficacy were greater than those in the group with poor efficacy (P<0.05). The VAS and ODI of both groups were lower at 3 months after surgery than before, and the group with good efficacy was lower(P<0.05). The changes in VAS and ODI before and after surgery in the group with good efficacy were greater than those in the group with poor efficacy (P<0.05). The changes in SSA, TPA, LL, PT, SS before and after surgery were positively correlated with the changes in VAS and ODI (P<0.05). Three months after surgery, SSA, TPA, LL, PT, and SS were used to evaluate the surgical efficacy of patients with dual level lumbar spondylolisthesis. The area under the curve (AUC) was 0.868, 0.797, 0.875, 0.822, and 0.853, respectively. The combined evaluation of all indicators resulted in the highest AUC, 0.927, and the best sensitivity and specificity were 90.50% and 91.89%, respectively.@*CONCLUSION@#The spine pelvis sagittal plane parameters SSA, TPA, LL, and SS of patients with double level lumbar spondylolisthesis before and after surgery show an upward trend;PT shows a downward trend;PI do not change significantly. And the changes of SSA, TPA, LL, SS, and PT are closely related to the patient's pain level and the improvement of lumbar function, which can be used as parameters to evaluate the surgical efficacy.

Short-term effectiveness of ultrasound-guided Kirschner wire provocation technique in treatment of Salter-Harris types Ⅰ and Ⅱ periosteal entrapment of distal tibial epiphyseal fractures in children and adolescents / 中国修复重建外科杂志

OBJECTIVE@#To investigate the short-term effectiveness of ultrasound-guided closed reduction by Kirschner wire provocation technique in the treatment of Salter-Harris types Ⅰ and Ⅱ periosteal entrapment of distal tibial epiphyseal fractures in children and adolescents.@*METHODS@#Between May 2019 and May 2022, 41 patients with Salter Harris types Ⅰ and Ⅱ distal tibial epiphyseal fractures were admitted, all of whom had periosteal entrapment on preoperative MRI, and 38 cases (92.7%) were confirmed to have periosteal entrapment by intraoperative ultrasound. There were 24 males and 14 females, the age ranged from 6.8 to 15.7 years, with an average of 10.7 years; and there were 20 cases of Salter Harris type Ⅰ and 18 cases of type Ⅱ. The time from injury to operation was 22-76 hours, with an average of 28.4 hours. The preoperative imaging examination showed excellent alignment in 4 cases, good in 20 cases, and poor in 14 cases. The ultrasound guided Kirschner wire provocation technique for closed reduction and percutaneous Kirschner wire internal fixation were performed. The operation time, intraoperative fluoroscopy frequency, fracture healing time, and complications were recorded. Anteroposterior and lateral X-ray films of the affected ankle joint were taken before operation, at 3 months after operation, and at last follow-up to observe the healing of the fracture, and anteroposterior X-ray films of the whole length of both lower limbs were taken to evaluate the alignment of the force lines of the affected limbs. The range of motion (ROM), visual analogue scale (VAS) score, and American Orthopaedic Foot and Ankle Society (AOFAS) ankle-hindfoot score were used to evaluate ankle function. The mechanical lateral distal tibia angle (mLDTA) and the anatomic anterior distal tibia angle (aADTA) were measured.@*RESULTS@#The operation time ranged from 17 to 52 minutes, with an average of 22.6 minutes, and the intraoperative fluoroscopy frequency ranged from 3 to 11 times, with an average of 4.2 times. X-ray examination during operation and at 2 days after operation showed that anatomical reduction was achieved. All patients were followed up 10-24 months, with an average of 16.4 months. All fractures healed in 6.1-7.2 weeks, with an average of 6.3 weeks; no fracture displacement occurred, and the patients recovered to their pre-injury level of motion at 6 months after operation. Needle tail irritation occurred in 2 cases at 4 weeks after operation, and they recovered after symptomatic treatment. During the follow-up, there was no serious complication such as incision deep infection, bone nonunion, delayed union, and malunion. At last follow-up, the patients' alignment were all excellent, and the difference was significant when compared with preoperative one ( Z=-7.471, P<0.001). The VAS score, AOFAS ankle-hindfoot score, dorsiflexion-plantar flexion ROM, varus-valgus ROM, mLDTA, and aADTA significantly improved at 3 months after operation and last follow-up when compared with preoperative ones ( P<0.05).@*CONCLUSION@#Ultrasound-guided closed reduction by Kirschner wire provocation technique for treating Salter-Harris types Ⅰ and Ⅱ periosteal entrapment of distal tibial epiphyseal fractures in children and adolescents is minimally invasive and safe.

Reconstruction of medial and lateral column periosteal hinge using Kirschner wire to assist in closed reduction of multi-directional unstable humeral supracondylar fractures in children / 中国修复重建外科杂志

OBJECTIVE@#To investigate the effectiveness of medial and lateral column periosteal hinge reconstruction using Kirschner wire in the closed reduction of multi-directional unstable humeral supracondylar fractures in children.@*METHODS@#A clinical data of 43 children with multi-direction unstable humeral supracondylar fractures, who met the selection criteria and were admitted between August 2020 and August 2022, was retrospectively analyzed. Twenty-one cases of fractures were treated wuth closed reduction after medial and lateral column periosteal hinge reconstruction using Kirschner wire and percutaneous Kirschner wires fixation (study group), while 22 cases of fractures were treated by traditional closed reduction technique and percutaneous Kirschner wire fixation (control group). There was no significant difference in gender, age, cause of injury, fracture side, and interval from injury to operation between the two groups ( P>0.05). The operation time, intraoperative fluoroscopy times, the number of children who were changed to open reduction after closed reduction failure, fracture healing time, complications within 2 months after operation, and the Flynn score of elbow joint function at last follow-up were compared between the two groups.@*RESULTS@#All the fractures in the study group were successfully closed reduction, and 4 cases in the control group were changed to open reduction and completed the operation, the difference between the two groups was significant ( P=0.040). The operation time and intraoperative fluoroscopy times of the study group were significantly less than those of the control group ( P<0.05). All children in both groups were followed up 6-18 months with an average of 9.0 months in the study group and 9.8 months in the control group. Imaging review showed that the fractures of both groups healed, and the difference in the healing time between the two groups was not significant ( P=0.373). According to Flynn score at last follow-up, the excellent and good rate of elbow joint function was 95.2% (20/21) in the study group and 86.4% (19/22) in the control group, with no significant difference ( P=0.317). There was no complication such as infection or irritation at the end of Kirchner wire within 2 months after operation.@*CONCLUSION@#For children with multi-directional unstable humeral supracondylar fractures, the use of Kirschner wires to reconstruct the medial and lateral column periosteal hinge to assist in closed reduction has the advantages of shortening operation time, reducing intraoperative fluoroscopy times, and effectively reducing the incidence of open reduction, and can achieve similar postoperative elbow joint function when compared with traditional closed reduction technique.

Comparative study on effectiveness of ultrasound- and arthrography-assisted Kirschner wire fixation in treatment of Jakob type Ⅱ lateral condylar humerus fractures in children / 中国修复重建外科杂志

OBJECTIVE@#To compare the effectiveness of ultrasound- and arthrography-assisted Kirschner wire fixation in the treatment of Jakob type Ⅱ lateral condylar humerus fracture (LCHF) in children.@*METHODS@#A clinical data of 101 children with Jakob type Ⅱ LCHF, who met the selection criteria and were admitted between April 2021 and April 2022, was retrospectively analyzed. Of them, 47 cases were treated with ultrasound-assisted Kirschner wire fixation (group A), and 54 cases with arthrography-assisted surgery (group B). There was no significant difference in gender, age, cause of injury, fracture side, and disease duration between groups (P>0.05). Intraoperative fluoroscopy times, operation time, and hospital stay, Flynn elbow joint function score, and postoperative complications were recorded and compared between groups. X-ray examination was performed to observe the healing of fracture, and measure the carrying angle and the shaft-condylar angle (SCA).@*RESULTS@#The success rate of closed reduction was significantly higher in group A than in group B (P<0.05), and the intraoperative fluoroscopy times was significantly less in group A than in group B (P<0.05). There was no significant difference in operation time and hospital stay between groups (P>0.05). All children in both groups were followed up 12-18 months, with an average of 13.6 months. X-ray reexamination showed that the fractures of both groups healed, and the difference in healing time was not significant (P>0.05). At last follow-up, there was no significant difference in carrying angle and SCA between unaffected side and affected side in both groups and between groups A and B in affected side (P>0.05). There was no significant difference in Flynn elbow joint function score between groups (P>0.05). There were 18 cases of lateral spurs formation in group A, 1 case of pinning infection and 26 cases of lateral spurs formation in group B, and there was no significant difference in the incidence of the above complications (P>0.05).@*CONCLUSION@#Compared with the arthrography, the ultrasound-assisted Kirschner wire fixation in the treatment of Jakob type Ⅱ LCHF in children can avoid the open reduction and decrease the number of intraoperative fluoroscopy, and obtain the good effectiveness.

Characteristic changes of blood stasis syndrome in rat model of steroid-induced femoral head necrosis based on the combination of disease, syndrome, and symptom / 中国中药杂志

The approach combining disease, syndrome, and symptom was employed to investigate the characteristic changes of blood stasis syndrome in a rat model of steroid-induced osteonecrosis of the femoral head(SONFH) during disease onset and progression. Seventy-two male SD rats were randomized into a healthy control group and a model group. The rat model of SONFH was established by injection of lipopolysaccharide(LPS) in the tail vein at a dose of 20 μg·kg~(-1)·d~(-1) on days 1 and 2 and gluteal intramuscular injection of methylprednisolone sodium succinate(MPS) at a dose of 40 mg·kg~(-1)·d~(-1) on days 3-5, while the healthy control group received an equal volume of saline. The mechanical pain test, tongue color RGB technique, gait detection, open field test, and inclined plane test were employed to assess hip pain, tongue color, limping, joint activity, and lower limb strength, respectively, at different time points within 21 weeks of modeling. At weeks 2, 4, 8, 12, 16, and 21 after modeling, histopathological changes of the femoral head were observed by hematoxylin-eosin(HE) staining and micro-CT scanning; four coagulation items were measured by rotational thromboelastometry; and enzyme-linked immunosorbent assay(ELISA) was employed to determine the levels of six blood lipids, vascular endothelial growth factor(VEGF), endothelin-1(ET-1), nitric oxide(NO), tissue-type plasminogen activator(t-PA), plasminogen activator inhibitor factor-1(PAI-1), bone gla protein(BGP), alkaline phosphatase(ALP), receptor activator of nuclear factor-κB(RANKL), osteoprotegerin(OPG), and tartrate-resistant acid phosphatase 5b(TRAP5b) in the serum, as well as the levels of 6-keto-prostaglandin 1α(6-keto-PGF1α) and thromboxane B2(TXB2) in the plasma. The results demonstrated that the pathological alterations in the SONFH rats were severer over time. The bone trabecular area ratio, adipocyte number, empty lacuna rate, bone mineral density(BMD), bone volume/tissue volume(BV/TV), trabecular thickness(Tb.Th), trabecular number(Tb.N), bone surface area/bone volume(BS/BV), and trabecular separation(Tb.Sp) all significantly increased or decreased over the modeling time after week 4. Compared with the healthy control group, the mechanical pain threshold, gait swing speed, stride, standing time, and walking cycle of SONFH rats changed significantly within 21 weeks after modeling, with the greatest difference observed 12 weeks after modeling. The time spent in the central zone, rearing score, and maximum tilt angle in the open field test of SONFH rats also changed significantly over the modeling time. Compared with the healthy control group, the R, G, and B values of the tongue color of the model rats decreased significantly, with the greatest difference observed 11 weeks after modeling. The levels of total cholesterol(TC), total triglycerides(TG), low-density lipoprotein-cholesterol(LDL-C), and apoprotein B(ApoB) in the SONFH rats changed significantly 4 and 8 weeks after modeling. The levels of VEGF, ET-1, NO, t-PA, PAI-1, 6-keto-PGF1α, TXB2, four coagulation items, and TXB2/6-keto-PGF1α ratio in the serum of SONFH rats changed significantly 4-16 weeks after modeling, with the greatest differences observed 12 weeks after modeling. The levels of BGP, TRAP5b, RANKL, OPG, and RANKL/OPG ratio in the serum of SONFH rats changed significantly 8-21 weeks after modeling. During the entire onset and progression of SONFH in rats, the blood stasis syndrome characteristics such as hyperalgesia, tongue color darkening, gait abnormalities, platelet, vascular, and coagulation dysfunctions were observed, which gradually worsened and then gradually alleviated in the disease course(2-21 weeks), with the most notable differences occurred around 12 weeks after modeling.

Hsa_circ_0003602 Contributes to the Progression of Colorectal Cancer by Mediating the miR-149-5p/SLC38A1 Axis

Background/Aims@#We aimed to investigate the role and working mechanism of Homo sapiens circular RNA_0003602 (hsa_circ_0003602) in colorectal cancer (CRC) development. @*Methods@#The expression of circ_0003602, miR-149-5p, and solute carrier family 38 member 1(SLC38A1) was detected by quantitative real-time polymerase chain reaction. RNase R assays were conducted to determine the characteristics of circ_0003602. CCK-8 assays, flow cytometry analysis, transwell invasion assays, wound healing assays and tube formation assays were employed to evaluate cell viability, apoptosis, invasion, migration, and angiogenesis. All protein levels were examined by Western blot or immunohistochemistry assay. The glutamine metabo-lism was monitored by corresponding glutamine, α-ketoglutarate and glutamate assay kits. Dual-luciferase reporter assay was utilized to confirm the targeted combination between miR-149-5p and circ_0003602 or SLC38A1. A xenograft tumor model was established to analyze the role of circ_0003602 in CRC tumor growth in vivo. @*Results@#Circ_0003602 was upregulated in CRC tissues and cell lines. Circ_0003602 silencing suppressed CRC cell viability, migration, invasion, angiogenesis, and glutaminolysis; induced cell apoptosis in vitro; and blocked tumor growth in vivo. Moreover, circ_0003602 directly interacted with miR-149-5p to negatively regulate its expression, and circ_0003602 knockdown suppressed the malignant behaviors of CRC cells largely by upregulating miR-149-5p. MiR-149-5p directly bound to the 3’ untranslated region of SLC38A1 to induce its degradation, and miR-149-5p overexpression reduced the malignant potential of CRC cells largely by downregulating SLC38A1. Circ_0003602 positively regulated SLC38A1 expression by sponging miR-149-5p in CRC cells. @*Conclusions@#Circ_0003602 knockdown impedes CRC development by targeting the miR-149-5p/SLC38A1 axis, which provides a novel theoretical basis and new insights for CRC treatment.

Renewal of embryonic and neonatal-derived cardiac-resident macrophages in response to environmental cues abrogated their potential to promote cardiomyocyte proliferation via Jagged-1-Notch1

Cardiac-resident macrophages (CRMs) play important roles in homeostasis, cardiac function, and remodeling. Although CRMs play critical roles in cardiac regeneration of neonatal mice, their roles are yet to be fully elucidated. Therefore, this study aimed to investigate the dynamic changes of CRMs during cardiac ontogeny and analyze the phenotypic and functional properties of CRMs in the promotion of cardiac regeneration. During mouse cardiac ontogeny, four CRM subsets exist successively: CX3CR1+CCR2-Ly6C-MHCII- (MP1), CX3CR1lowCCR2lowLy6C-MHCII- (MP2), CX3CR1-CCR2+Ly6C+MHCII- (MP3), and CX3CR1+CCR2-Ly6C-MHCII+ (MP4). MP1 cluster has different derivations (yolk sac, fetal liver, and bone marrow) and multiple functions population. Embryonic and neonatal-derived-MP1 directly promoted cardiomyocyte proliferation through Jagged-1-Notch1 axis and significantly ameliorated cardiac injury following myocardial infarction. MP2/3 subsets could survive throughout adulthood. MP4, the main population in adult mouse hearts, contributed to inflammation. During ontogeny, MP1 can convert into MP4 triggered by changes in the cellular redox state. These findings delineate the evolutionary dynamics of CRMs under physiological conditions and found direct evidence that embryonic and neonatal-derived CRMs regulate cardiomyocyte proliferation. Our findings also shed light on cardiac repair following injury.

Inhibitory effects of a TRPM4 inhibitor 9-phenanthrol on electrical activity of INS-1 pancreatic β-cells / 药学学报

The Ca2+-activated monovalent cation selective transient receptor potential melastatin 4 (TRPM4) channel expressed in pancreatic β-cells is implicated in the β-cell function and insulin secretion, but how pharmacological function of TRPM4 channel affects membrane excitability of β-cells remains largely unknown. Here, we report that pharmacological inhibition of TRPM4 by specific inhibitor 9-phenanthrol attenuates electrical activities of pancreatic β-cells. In whole-cell current clamp recordings, 9-phenanthrol results in inhibition of action potential frequency induced by tolbutamide of the INS-1 pancreatic β-cells in a dose-dependent manner with an IC50 value of 14.99 ± 7.93 μmol·L-1. Similarly, 9-phenanthrol also inhibited action potential firing in INS-1 cells stimulated by current injection. Further recordings of β-cells demonstrate the significant inhibitory effects on action potential peak and action potential amplitude by 9-phenanthrol. Taken together, our results show the involvement of TRPM4 channel function in pancreatic β-cells depolarization and action potential, it provides pharmacological experimental methods and theoretical support for the study of TRPM4 channel in pancreatic β-cells.

Value of MELD 3.0， MELD， and MELD-Na scores in assessing the short-term prognosis of patients with acute-on-chronic liver failure： A comparative study / 临床肝胆病杂志

ObjectiveTo investigate the value of MELD 3.0， MELD， and MELD-Na scores in assessing the 90-day prognosis of patients with acute-on-chronic liver failure （ACLF） through a comparative study. MethodsA retrospective analysis was performed for the clinical data of 605 patients with ACLF who were treated in Tianjin Third Central Hospital， The Fifth Medical Center of Chinese PLA General Hospital， and Beijing YouAn Hospital from November 2012 to June 2019， and according to the 90-day follow-up results after admission， they were divided into survival group with 392 patients and death group with 213 patients. The receiver operating characteristic （ROC） curve， the area under the ROC curve （AUC）， net reclassification improvement （NRI）， integrated discrimination improvement （IDI）， and decision curve analysis （DCA） curve were used to investigate the value of MELD 3.0， MELD， and MELD-Na scores at baseline， day 3， week 1， and week 2 in predicting the prognosis of the disease. ResultsAt day 3 and week 1， MELD 3.0 score had an AUC of 0.775 and 0.808， respectively， with a better AUC than MELD score （P<0.05）. At day 3， week 1， and week 2， MELD 3.0 score showed an NRI of 0.125， 0.100， and 0.081， respectively， compared with MELD in predicting the prognosis of ACLF patients， as well as an NRI of 0.093， 0.140， and 0.204， respectively， compared with MELD-Na score in predicting prognosis. At baseline， day 3， week 1， and week 2， MELD 3.0 showed an IDI of 0.011， 0.025， 0.017， and 0.013， respectively， compared with MELD in predicting the prognosis of ACLF patients. At day 3 and week 2， MELD 3.0 showed an IDI of 0.027 and 0.038， respectively， compared with MELD-Na in predicting the prognosis of ACLF patients. All the above NRIs and IDIs were >0， indicating a positive improvement （all P<0.05）. DCA curves showed that MELD 3.0 was superior to MELD at day 3 and was significantly superior to MELD-Na at week 2. There was no significant difference in the ability of the three scores in predicting the prognosis of ACLF patients with different types， and there was also no significant difference in the ability of the three scores in predicting the prognosis of ACLF patients with the etiology of HBV infection， alcohol， or HBV infection combined with alcohol， while MELD 3.0 was superior to MELD for ACLF patients with other etiologies （P<0.05）. ConclusionMELD 3.0 score is better than MELD and MELD-Na scores in predicting the 90-day survival of patients with ACLF， but with limited superiority.

Psychological and behavioral characteristics of children with autism spectrum disorder using Psycho-educational Profile (Third Edition) / 中国康复理论与实践

ObjectiveTo explore psychological and behavioral characteristics of children with autism spectrum disorder (ASD) using Psycho-educational Profile (Third Edition) (PEP3). MethodsFrom October, 2021 to October, 2022, 192 children with ASD without intervention in the Binzhou Medical University Hospital were selected as observation group, and 96 healthy children who visited at the same time were selected as control group. They were assessed with PEP3. ResultsThe development of receptive language significantly delayed behind expressive language (t = 5.383, P < 0.001) in the observation group. The cognitive, expressive language, receptive language, fine motor, gross motor, imitation and personal self-care correlated with age (r = 0.540 to 0.795, P < 0.001). The Cronbach's α of PEP3 for the observation group was 0.810 to 0.947. The original score of each subtest of PEP3 was less in the observation group than in the control group (|t| > 4.267, P < 0.001). ConclusionThe development of receptive language retards behind the expressive language in children with ASD. Cognitive and motor functions develop with age, while the correlation between maladaptive behavior and age is weak. PEP3 is reliable in internal consistency, and valid in discrimination.

Influence of interaction between hypertension and abdominal obesity on the prevalence of diabetes / 上海预防医学

ObjectiveTo explore the effect of interaction of hypertension and abdominal obesity on morbidity of diabetes and to provide the scientific bases for preventing diabetes. MethodsA total of 11 914 people who took the physical examination in 2019 were examined with cluster sampling method for the interaction analysis. The data was collected by physical measurements and laboratory tests. SPSS 16.0 and interaction models were used for data analysis. ResultsIn the subjects there were 75.19% with abdominal obesity， 47.99% with hypertension， 16.26% with diabetes， and 39.42% had abdominal obesity plus hypertension. Multivariate logistic regression analysis showed， after adjusting gender and age， the abdominal obesity（OR=1.29， 95%CI：1.14‒1.46） and hypertension （OR=2.93， 95%CI： 2.63‒3.26） were related to high risk of diabetes. There was no multiplicative interaction effect between abdominal obesity and hypertension （OR=0.98，95%CI： 0.76‒1.27）. The additive interaction was significant between abdominal obesity and hypertension with RERI=0.53（95%CI：0.09‒0.98）， AP=0.14（95%CI：0.02‒0.26）， and SI=1.24（95%CI：1.01‒1.52）. ConclusionThere is a synergistic effect on morbidity of diabetes between abdominal obesity and hypertension. The improvement of weight and control of blood pressure could prevent significantly the diabetes.

Association between dietary quality and perceived stress based on the CHNS database / 公共卫生与预防医学

Objective To explore the association between dietary quality and perceived stress among adult Chinese. Methods The China Health and Nutrition Survey (CHNS) was used to investigate the association between dietary quality and perceived stress in Chinese adults. The Chinese Perceived Stress Scale (CPSS) was used to assess the perceived stress in Chinese adults. Binary logistic regression models were utilized to explore the relationship between diet quality and perceived stress. Restricted cubic splines (RCS) were utilized to clarify the dose response relationship between diet quality and perceived stress. Results Binary logistic regression models revealed that adults with CHEI score ranged from P25 to P50 and higher than P75 had 15.1% (OR=0.849，95%CI：0.738-0.977) and 23.0% (OR=0.770，95%CI：0.666-0.891) reduced risk of high perceived stress after multivariable adjustment when compared with adults with CHEI score less than P25. RCS results showed that the OR value of high perceived stress risk decreased gradually with increasing CHEI score in the overall population, but this association was not statistically significant in adults with lower CHEI score. Conclusion High dietary quality is associated with a reduced risk of high perceived stress. This study provides a theoretical reference for the health effects of high dietary quality on high perceived stress risk reduction.

Analysis of anxiety and depressive status and influencing factors in patients with colorectal polyps in part of Xinjiang area / 中华消化杂志

Objective:To investigated the prevalence of anxiety and depression symptoms in patients with colorectal polyps in part of Xinjiang area and to explore the associated influencing factors related to psychological status, and to provide evidence and clues to promote the diagnosis and treatment of psychosomatic diseases in digestive system.Methods:From December 2021 to June 2022, at the First Affiliated Hospital of Shihezi University, the Fourth Division Hospital of Xinjiang Production and Construction Corps, the Third Division Hospital of Xinjiang Production and Construction Corps (Kashgar Hospital), the Thirteenth Division Red Star Hospital of Xinjiang Production and Construction Corps, the Tenth Division Beitun Hospital of Xinjiang Production and Construction Corps, the Seventh Division Hospital of Xinjiang Production and Construction Corps, the Fifth Division Hospital of Xinjiang Production and Construction Corps, patients who underwent colonoscopy and colorectal polyps detected were enrolled. The generalized anxiety disorder scale-7 (GAD-7) was used to screen anxiety symptoms, and the patient health questionaire-8 (PHQ-8) was performed to screen depression symptoms, and the general situation questionnaire was used to collect clinical information of patients. The questionnairs were completed via the Questionnaire Star platform or paper questionnaire, and a database was established. The patients were divided into groups according to whether with anxiety and depression symptoms. Multivariable logistic regression models was performed to analyze the factors related to anxiety and depression.Results:A total of 516 questionnaires were distributed and collected, among which 9 questionnaires were incomplete and 507 questionnaires were valid, the effective rate of questionnaires was 98.26%. The detection rates of anxiety and depression symptoms in 507 patients with colorectal polyps were 21.50%(109/507) and 19.33%(98/507), respectively. The results of multivariable logistic analysis revealed that female ( OR=3.87, 95% confidence interval (95% CI) 2.30 to 6.51, P<0.001), maximum diameter of polyp ( OR=1.74, 95% CI 1.14 to 2.67, P=0.011), perception of polyps as cancer ( OR=13.96, 95% CI 1.48 to 132.07, P=0.022), and the occurrence of gastrointestinal symptoms after polyp detection ( OR=5.43, 95% CI 1.74 to 16.92, P=0.004) were independent risk factors of anxiety in patients with colorectal polyps. Female ( OR=2.42, 95% CI 1.47 to 4.00, P=0.001), the number of polyps ( OR=1.07, 95% CI 1.01 to 1.13, P=0.028) and the count of gastrointestinal symptoms ( OR=2.04, 95% CI 1.34 to 3.10, P=0.001) were independent risk factors of depression in patients with colorectal polyps. Conclusion:Gender, polyp size, number of polyps, disease perception, and concomitant gastrointestinal symptoms are associated with anxiety and depression in patients with colorectal polyps.

Effects of transcranial magnetic stimulation on the swallowing and brain-stem auditory evoked potentials of dysphagic stroke survivors / 中华物理医学与康复杂志

Objective:To observe any effects of contralateral repeated transcranial magnetic stimulation (rTMS) of the swallowing motor cortex on the swallowing and brainstem auditory evoked potentials (BAEPs) of stroke survivors with dysphagia.Methods:A total of 83 stroke survivors with dysphagia were randomly divided into an ipsilesional stimulation group ( n=22), a contralesional stimulation group ( n=21), a bilateral stimulation group ( n=20), and a control group ( n=20). In addition to their conventional dysphagia training, those in the three stimulation groups received 3Hz rTMS while the control group was given fake stimulation. The treatment was administered daily for 20 minutes, 6 days a week, for 5 consecutive weeks. Before and after the treatment, swallowing function was assessed videofluoroscopically and using the Dysphagia Outcome and Severity Scale (DOSS). The oral and pharyngeal stages of swallowing were evaluated using the videofluoroscopic dysphagia scale (VDS). Brain stem conduction was assessed using BAEPs. Results:After treatment the average DOSS scores of all 4 groups were significantly better than before the treatment. The average DOSS scores of the contralesional and bilateral sti-mulation groups were then significantly better than those of the other two groups. The sub-item and total VDS scores of all 4 groups had decreased significantly, but the average score of the bilateral stimulation group was significantly lower than the control group′s average. Ipsilesional stimulation significantly improved the VDS sub-item scores for the triggering of pharyngeal swallowing, laryngeal elevation, and pharyngeal transit time compared with the control group. In the contralesional stimulation group the average total score and the VDS sub-item scores for apraxia, premature bolus loss, oral transit times, the triggering of pharyngeal swallowing, vallecular residue, laryngeal elevation, coating on the pharyngeal wall, and pharyngeal transit time were significantly lower than those of the control group, on average. After the treatment the latencies of BAEP waves I, III and V and the I-III, III-V and I-V interpeak intervals had decreased significantly in all four groups, but the average latencies and intervals of the bilateral and contralesional groups were significantly shorter than those of the control group. The latencies and intervals of the bilateral stimulation group were then significantly shorter than those in the ipsilesional stimulation group on average. The average latency of wave V in the bilateral stimulation group (6.53±0.73ms) was significantly shorter than that in the contralesional stimulation group after the treatment.Conclusion:Bilateral rTMS over the swallowing motor cortex combined with conventional dysphagia training can significantly improve the swallowing of dysphagic stroke survivors.

Long-term follow-up results and risk factors of bleeding among very elderly patients with non-valvular atrial fibrillation / 中华全科医师杂志

Objective:To investigate the long-term follow-up results and the risk factors of bleeding among very elderly patients with non-valvular atrial fibrillation (NVAF).Methods:A total of 177 patients with NVAF admitted in Beijing Hospital from January 2016 to July 2016 were enrolled in the study, including 107 very elderly patients (aged≥80 years) and 70 elderly patients (aged 65-80 years). The demographic information, comorbid diseases, lifestyles, antithrombotic therapy, thromboembolism risks, bleeding risks, and medical history were documented. Patients were followed up for 5 years and the events of death, thromboembolism, bleeding and major bleeding were recorded.Results:There was no significant difference in the incidence of thromboembolic events between the two groups (15.9%(17/107) vs. 14.3%(10/70), P>0.05). The proportions of bleeding events and severe bleeding events in the very elderly group were higher than those in the elderly group (45.8%(49/107) vs.10.0%(7/70), 14.0%(15/107) vs. 1.4%(1/70), both P<0.05). According to the bleeding events during follow-up, very elderly patients were divided into bleeding group ( n=49) and non-bleeding group ( n=58). Compared with the non-bleeding group, patients in the bleeding group had an older age, a higher proportion of chronic cardiac insufficiency, chronic kidney disease, malignant tumor, bleeding history and higher bleeding risk score (HAS-BLED score) (all P<0.05). Multivariate logistic regression model analysis showed that age, HAS-BLED score, history of bleeding, and complicated malignant tumor were independent risk factors for bleeding events in very elderly patients with NVAF (all P<0.05). Conclusions:Very elderly patients with NVAF have a similar risk of thromboembolism compared with the younger elderly, but have significantly higher risk of the bleeding and major bleeding. Age, HAS-BLED score, bleeding history, and malignant tumor are independent risk factors for bleeding events in very elderly NVAF patients.

Clinical management of hyperthyroidism complicated with liver failure / 中华内分泌代谢杂志

Clinical data from 11 previously diagnosed and treated patients with hyperthyroidism(Graves′ disease) complicated by liver failure were collected. Among them, 4 cases were drug-induced liver injury leading to liver failure, 1 case had a history of schistosomal liver cirrhosis combined with hyperthyroidism, and 6 cases had hyperthyroidism-induced liver injury(HILI) leading to liver failure. During hospitalization, all patients received supportive therapy and symptomatic treatment with β-blockers. Nine patients were treated with glucocorticoids and artificial liver support therapy. Among the 11 patients, 2 died, 8 patients achieved normal thyroid and liver function within 1-12 months after treatment, and 1 patient with liver cirrhosis had stable liver function in the later stage. After improvement in liver function, 7 patients received isotope therapy, 1 patient underwent total thyroidectomy, and 1 patient received medication. These results indicate that the clinical characteristics differ for drug-induced liver injury and HILI-related liver failure. Early initiation of artificial liver support therapy, in addition to β-blockers and glucocorticoids, is important in alleviating thyroid toxicity and liver damage, thus creating an opportunity for subsequent radioactive iodine or surgical treatment.

Relationship between cardiometabolic index and hyperuricemia in health examination population / 中华健康管理学杂志

Objective:To investigate the relationship between cardiometabolic index (CMI) and hyperuricemia (HUA) in the health examination population.Methods:It was a cross-sectional study. A total of 21 720 individuals who received health examinations in Xiangya hospital, Central South University between 2020 and 2021 were recruited in this study. Multivariate logistic regression analysis was used to determine the independent correlation between CMI and HUA, and stratified analysis was applied to check whether there were population differences. Then the predictive value of CMI for hyperuricemia in the health examination population was evaluated with the area under the receiver operator characteristic (ROC) curve.Results:Among the 21 720 subjects, 4 418 (20.34%) were detected with HUA. In the HUA group, the body mass index (BMI), waist-to-hip ratio, CMI, total cholesterol, triglyceride, systolic blood pressure, diastolic blood pressure, fasting blood glucose, 2-hour postprandial blood glucose, and blood creatinine levels were all significantly higher than those in the normal uric acid group, while high-density lipoprotein and epidermal growth factor receptor (eGFR) were significantly lower (all P<0.05). Multiple logistic regression analysis showed that after adjusting for relevant factors, CMI was significantly positively correlated with HUA ( OR=1.16, 95% CI: 1.129-1.192); and with the increase of CMI, the risk of HUA increased gradually. Stratified analysis and interaction test according to gender, age, BMI, hypertension, abnormal blood glucose and glomerular filtration rate indicated that CMI was positively associated with the occurrence of HUA in all populations. Compared with that in people with abnormal blood glucose, the correlation between CMI and HUA was more obvious in people with normal blood glucose. The area under the ROC curve (AUC) for CMI to predict HUA was 0.723(95% CI: 0.715-0.731), with a specificity of 0.636 and a sensitivity of 0.698, and the cut-point was 0.693. Conclusion:There was a significant positive correlation between CMI and HUA in the health examination population, which has good predictive value for HUA.