To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes.

OBJECTIVE: Rhodiolae Crenulatae Radix et Rhizoma (Hongjingtian in Chinese, RCRR), the roots and rhizomes of Rhodiola crenulata and its application in the medicinal market is very chaotic. In this study, DNA barcoding database and identification engine of Rhodiola species were established, decoction pieces from the medicinal market were identified, and the application and challenges of DNA barcoding in the rapid radiation of Rhodiola species were analyzed. This study provides reference for the protection, rational development, and utilization of endangered resources within Rhodiola species. METHODS: A total of 50 original plant samples from 20 species of the genus Rhodiola from Hebei, Xinjiang, Tibet, Jilin, and other major production areas were collected. Theses samples cover the typical distribution area (Qinghai-Tibetan Platea) of Rhodiola species and other scattered alpine regions (Changbai Mountain, Taibai Mountain, Lushan Mountain, etc.), it encompasses all Rhodiola species with thick rhizomes in China. ITS2 and psbA-trnH barcode of Rhodiola database (BORD) were established and an identification engine named Rhodiola-IDE was developed. The stability and accuracy of the standard DNA barcoding database were evaluated using two datasets. Rhodiola-IDE identified 31 decoction pieces of RCRR from the medicinal material market. RESULTS: The BORD containing 1 532 sequences of 88 Rhodiola species has been established, and the identification efficiency results showed good accuracy and stability. According to the Chinese Pharmacopoeia (2020 edition), 23 samples (74.2%) were identified as authentic R. crenulata, while the rest of the marketed varieties were R. kirilowii, R. dumulosa, and R. fastigiata. The product label "Larger flower, Hongjingtian" was identified as R. crenulata. Samples labeled as "Smaller flower, Hongjingtian" were identified as R. crenulata, R. kirilowii, and R. fastigiata. CONCLUSION ITS2 and psbA-trnH barcodes can identify monophyletic groups represented by R. crenulata. However, for non-monophyletic species, it is necessary to collect as many samples as possible and combine them with multiple markers for joint identification. This study discussed the application and challenges of DNA barcodes in Rhodiola under rapid radiation conditions, providing a scientific basis for the rational development and utilization of Rhodiola varieties.

Objective:To explore the characteristics, clinical manifestations and gene mutation types of Cornelia de Lange syndrome (CdLs), and to improve the understanding of the disease.Methods:Clinical data and gene test results of a pediatric case of CdLs diagnosed in the First Affiliated Hospital of Xinxiang Medical University in August 2019 were analyzed retrospectively.Results:A female patient with 2 years and 8 months old presented a special appearance with a low and flat nose, a wide eye distance, audition ears, a downward inclination of the mouth corner, a high arch of the jaw and a small jaw deformity, who had recurrent seizures, speech and mental retardation.The result of gene test showed the mutation of SMC1A gene c. 2923C > T, and thus the patient was diagnosed as type 2 CdLs. Conclusions:CdLs is a rare genetic metabolic disease with special facial features and physical signs.There is only one case of CdLs with gene mutation of SMC1A in China through literature review.The mutation of SMC1A gene c. 2923C>T in CdLs cases has not been reported at home and abroad, which expands the variation spectrum of the SMC1A gene.

Objective:To compare the performance and surgical outcomes of domestic single-use digital flexible ureteroscopes with reusable digital flexible ureteroscopes in treatment of upper urinary stones.Methods:A prospective, single-blind, multicenter and randomized controlled study was performed from September 2018 to June 2019. Eligible patients were randomly assigned, in a ratio of 1∶1, to either experimental group or control group. The inclusion criteria for the study were: aged 18-75 years, solitary upper urinary stone with stone size between 0.8 and 2.0 cm and CT value less than 1 400 HU, negative preoperative urine culture and normal renal function. Exclusion criteria included: patients with acute urinary tract infection, intransitable urethral strictures, impassable ureteropelvic junction obstructions, systemic hemorrhagic disease, coagulation function abnormalities or bleeding tendency, severe hypertension or cardiopulmonary insufficiency, severe hip malformation and difficulty in meeting the demand of operation position and pregnant and lactation women. The device used in the experimental group was a domestic single-use digital flexible ureteroscope, and the device used in the control group was an imported Olympus digital flexible ureteroscope. The qualified rate of clinical comprehensive evaluation (including image quality and operational performance), the rate of device failure, the stone-free rate and the occurrence rate of adverse events (including increase in urine red blood cell and white blood cell counts, postoperative hematuria, nausea, vomiting, dizziness, and fever) in the two groups were recorded.Results:A total of 186 eligible study cases were collected from the People's Hospital of Wuhan University, the First Affiliated Hospital of Xiamen University, and the First Affiliated Hospital of Guangzhou Medical University. 90 cases in the final experimental group and 88 cases in the control group completed the trial and were included in the evaluation. There were no statistically significant differences among age [(48.40±11.36) vs. (47.40±12.53)years old, P=0.594], male to female ratio (62/28 vs. 56/32, P =0.874), BMI [(24.8±2.1) kg/m 2 vs. (25.1±2.0)kg/m 2,P =0.331], hydronephrosis (no/slight vs. mild/severe) (62/28 vs. 65/23, P =0.874), stone location and stone size [(12.8±4.7) mm vs. (11.9±5.2) mm, P =0.227]. There were no significant differences in terms of qualified rate of clinical comprehensive evaluation [98.9% (89/90) vs. 100.0% (88/88), P =0.991], lithotripsy success rate [84.4% (76/90) vs. 84.1% (74/88), P =0.888], device failure/defect rate (both 0%), and the incidence of adverse events [50.0% (45/90) vs. 52.0% (51/88), P =0.894]. The highest incidence of adverse events in two groups was the increase of red blood cells and white blood cells of routine urine after operation. There was no serious adverse event in the experimental group and 1 serious adverse event in the control group. Conclusions:There was no significant difference in image quality, device failure/defect rate, lithotripsy success rate, and adverse event rate between single-use digital flexible ureteroscopes and reusable digital flexible ureteroscopes for lithotripsy of upper ureteral and pelvic stones. Domestic single-use digital flexible ureteroscopes have good safety and effectiveness in the treatment and microscopy of upper urinary tract stones.

To investigate the efficacy and safety of modified endoscopic retrograde appendicitis therapy (ERAT) in children with acute uncomplicated appendicitis complicated with intussusception. Data of 6 patients with acute uncomplicated appendicitis complicated with intussusception who received modified ERAT were collected from October 2018 to February 2020 in Pediatrics Department of Tangdu Hospital. The reduction rate of intussusception, the success rate of ERAT appendiceal intubation and endoscopic treatment, the remission time of clinical symptoms, the time of white blood cells return to normal, the length of hospital stay, complications and recurrence were summarized. All the 6 patients were confirmed to be acute uncomplicated appendicitis combined with ileocecal intussusceptions under colonoscopy. Endoscopic intussusception reduction and ERAT were performed successfully. The mean time of disappearance of abdominal tenderness was 1.3 days after the therapy, and the time of white blood cells return to normal was 1 day after surgery. The endoscopic treatment were all successful and the length of hospital stay was 3-6 days. No complications or recurrence of intussusception and appendicitis occurred during the follow-up period of 6-12 months. Modified ERAT can effectively, safely and minimally invitingly treat acute uncomplicated appendicitis with intussusception in children on the basis of definite diagnosis.

Objective:To study the value of ultrasound-guided endoscopic retrograde appendicitis therapy in children with uncomplicated appendicitis.Methods:This study was a single center, retrospective study, including all electronic cases of appendicitis diagnosed clinically in Department of Pediatrics, the Second Affiliated Hospital of Air Force Military Medical University from October 2018 to October 2020 and received ultrasound-guided endoscopic retrograde appendicitis therapy.The clinical features, treatment and prognosis of the children were retrospectively analyzed.Results:A total of 152 electronic cases were included, there were 77 males and 75 females, aged(6.84±3.09) years.All the 152 children were treated with ultrasound-guided endoscopic retrograde appendicitis therapy.Intubation success rate and clinical success rate was 98.03%(149/152 cases)and 97.99%(146/149 cases), respectively.The median time of endoscopic therapy was 42.50 (31.00, 56.00) minutes.Mean postoperative hospital stay was (2.81 ±1.41) days, and the mean total hospital stay was (4.19 ±1.71) days.A total of 139 patients were followed up with a median follow-up time of 5 (1, 26) months.During the follow-up, the recurrence rate was 7.19%(10/139 cases), and the median time of recurrence was 2 (1, 3) months.Conclusions:Ultrasound-guided endoscopic retrograde appendicitis therapy had high effective rate and low recurrence rate in children with uncomplicated appendicitis, preserved the physiological function of appendix and avoided radiation damage.It can be used as a safe and effective treatment for acute and chronic uncomplicated appendicitis in children.

Objective    To investigate the multidisciplinary management of patients with acute type A aortic dissection in late pregnancy. Methods    The clinical data of 3 patients admitted to the Second Affiliated Hospital of Army Medical University from 2018 to 2019 were analyzed. Their age ranged from 27 to 32 years, while gestational age was 34-37 weeks. Sudden chest pain was the main clinical symptom before operation. All 3 patients underwent Bentall surgery after cesarean section under general anesthesia, of whom 2 patients received total arch replacement (TAR) combined with frozen elephant trunk (FET) implantation and 1 received coronary artery bypass grafting (CABG) additionally. Results    No patient died during the perioperative period, and all the newborns were delivered successfully and survived healthily. The ICU stay was 3-5 d. The postoperative hospital stay was 15-18 d. The follow-up was 250-751 d. There was no recurrence or death. One patient who developed spontaneous pneumothorax and hydropneumothorax was cured in our center. Conclusion    The multidisciplinary diagnosis and treatment strategy plays a crucial role in saving the life of pregnant patients with acute type A aortic dissection.

PURPOSE: Previous studies have confirmed that microRNAs play important roles in the pathogenesis of acute aortic dissection (AAD). Here, we aimed to explore the role of miR-145 and its regulatory mechanism in the pathogenesis of AAD. MATERIALS AND METHODS: AAD tissue samples were harvested from patients with aortic dissection and normal donors. Rat aortic vascular smooth muscle cells (VSMCs) were transfected with miR-145 mimic/inhibitor or negative control mimic/inhibitor. Gene and protein expression was measured in human aortic dissection tissue specimens and VSMCs by qRT-PCR and Western blot. Luciferase reporter assay was applied to verify whether connective tissue growth factor (CTGF) was a direct target of miR-145 in VSMCs. Methyl thiazolyl tetrazolium assay was used to detect VSMC viability. RESULTS: miR-145 expression was downregulated in aortic dissection tissues and was associated with the survival of patients with AAD. Overexpression of miR-145 promoted VSMC proliferation and inhibited cell apoptosis. Moreover, CTGF, which was increased in aortic dissection tissues, was decreased by miR-145 mimic and increased by miR-145 inhibitor. Furthermore, CTGF was confirmed as a target of miR-145 and could reverse the promotion effect of miR-145 on the progression of AAD. CONCLUSION: miR-145 suppressed the progression of AAD by targeting CTGF, suggesting that a miR-145/CTGF axis may provide a potential therapeutic target for AAD.
Animals ; Apoptosis ; Blotting, Western ; Connective Tissue Growth Factor ; Humans ; Luciferases ; MicroRNAs ; Muscle, Smooth, Vascular ; Rats ; Tissue Donors

To investigate the clinical features, auxiliary examination and characteristics for anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis and its concomitant seizure.
 Methods: A total of 20 patients diagnosed as anti-NMDAR encephalitis were enrolled from January 2016 to September 2018 in Xiangya Hospital. The data including the clinical features, auxiliary examination, characteristics of seizure, treatment and prognosis were collected. The discharged patients were followed up for half a year.
 Results: The initial symptom in patients with anti-NMDAR encephalitis were mainly psychiatric symptom and seizure. Most of the EEG result were diffused slow waves. The mainly type of seizure in patients with anti-NMDAR encephalitis showed generalized tonic-clonic seizure. Patients occurred consciousness during the onset of the disease. MRI showed that patients with temporal lobe were more inclined to occur seizure than patients with anti-NMDAR encephalitis (P<0.05). After standardized treatment, 20 patients showed a significant improvement in modified Rankin Scale (mRS) scores and the seizure was under control within half a year. 
 Conclusion: Patients with temporal lobe affected in MRI should pay attention to the possibility of seizure occurrence. Anti-epileptic drugs and immunotherapy should be used promptly in patient with seizure. After standardized treatment, the prognosis of patients will be mostly good.
Anti-N-Methyl-D-Aspartate Receptor Encephalitis ; Humans ; Immunotherapy ; Magnetic Resonance Imaging ; Receptors, N-Methyl-D-Aspartate ; Seizures

[ ABSTRACT] Rebound depolarization is a special phenomenon of the neurons which generates action potential fol-lowed by a hyperpolarization stimulation.It can be recorded in many kinds of neurons and is the intrinsic membrane charac-teristic of them.Rebound depolarization plays an important role in regulating the firing pattern, rhythmic activity and sy-naptic plasticity of neurons.This review focuses on the basic characteristics, the function and mechanism of the rebound depolarization in physiological and pathological conditions, which provides reference for the clinical treatment of rebound depolarization-related diseases.