OBJECTIVES: To evaluate the application value of genetic newborn screening (gNBS) in the Yunnan region. METHODS: A prospective study was conducted with a random selection of 3 001 newborns born in the Yunnan region from February to December 2021. Traditional newborn screening (tNBS) was used to test biochemical indicators, and targeted next-generation sequencing was employed to screen 159 genes related to 156 diseases. Positive-screened newborns underwent validation and confirmation tests, and confirmed cases received standardized treatment and long-term follow-up. RESULTS: Among the 3 001 newborns, 166 (5.53%) were initially positive for genetic screening, and 1 435 (47.82%) were genetic carriers. The top ten genes with the highest variation frequency were GJB2 (21.29%), DUOX2 (7.27%), HBA (6.14%), GALC (3.63%), SLC12A3 (3.33%), HBB (3.03%), G6PD (2.94%), SLC25A13 (2.90%), PAH (2.73%), and UNC13D (2.68%). Among the initially positive newborns from tNBS and gNBS, 33 (1.10%) and 47 (1.57%) cases were confirmed, respectively. A total of 48 (1.60%) cases were confirmed using gNBS+tNBS. The receiver operating characteristic curve analysis demonstrated that the areas under the curve for tNBS, gNBS, and gNBS+tNBS in diagnosing diseases were 0.866, 0.982, and 0.968, respectively (P<0.05). DeLong's test showed that the area under the curve for gNBS and gNBS+tNBS was higher than that for tNBS (P<0.05). CONCLUSIONS gNBS can expand the range of disease detection, and its combined use with tNBS can significantly shorten diagnosis time, enabling early intervention and treatment.
Humans ; Infant, Newborn ; Neonatal Screening ; Genetic Testing ; Female ; Male ; Follow-Up Studies ; Prospective Studies ; China

OBJECTIVE: To observe the effect of Shugan Tiaoshen acupuncture (acupuncture for soothing the liver and regulating the mentality) combined with western medication on depression and sleep quality in the patients with depression-insomnia comorbidity due to COVID-19 quarantine, and investigate the potential mechanism from the perspective of cortical excitability. METHODS: Sixty patients with depression-insomnia comorbidity due to COVID-19 quarantine were randomly divided into an acupuncture group and a sham-acupuncture group, 30 cases in each one. The patients of both groups were treated with oral administration of sertraline hydrochloride tablets. In the acupuncture group, Shugan Tiaoshen acupuncture was supplemented. Body acupuncture was applied to Yintang (GV 24⁺), Baihui (GV 20), Hegu (LI 4), Zhaohai (KI 6), Qihai (CV 6), etc. The intradermal needling was used at Xin (CO₁₅), Gan (CO₁₂) and Shen (CO₁₀). In the sham-acupuncture group, the sham-acupuncture was given at the same points as the acupuncture group. The compensatory treatment was provided at the end of follow-up for the patients in the sham-acupuncture group. In both groups, the treatment was given once every two days, 3 times a week, for consecutive 8 weeks. The self-rating depression scale (SDS) and insomnia severity index (ISI) scores were compared between the two groups before and after treatment and 1 month after the end of treatment (follow-up) separately. The cortical excitability indexes (resting motor threshold [rMT], motor evoked potential amplitude [MEP-A], cortical resting period [CSP]) and the level of serum 5-hydroxytryptamine (5-HT) were measured before and after treatment in the two groups. RESULTS: After treatment and in follow-up, SDS and ISI scores were decreased in both groups compared with those before treatment (P<0.05), and the scores in the acupuncture group were lower than those in the sham-acupuncture group (P<0.05), and the decrease range in the acupuncture group after treatment was larger than that in the sham-acupuncture group (P<0.05). After treatment, rMT was reduced (P<0.05), while MEP-A and CSP were increased (P<0.05) in the acupuncture group compared with that before treatment. The levels of serum 5-HT in both groups were increased compared with those before treatment (P<0.05). The rMT in the acupuncture group was lower than that in the sham-acupuncture group, while MEP-A and CSP, as well as the level of serum 5-HT were higher in the acupuncture group in comparison with the sham-acupuncture group (P<0.05). CONCLUSION Shugan Tiaoshen acupuncture combined with western medication can relieve depression and improve sleep quality in the patients with depression-insomnia comorbidity due to COVID-19 quarantine, which is probably related to rectifying the imbalanced excitatory and inhibitory neuronal functions.
Humans ; Depression ; Quarantine ; Serotonin ; Sleep Initiation and Maintenance Disorders ; COVID-19 ; Acupuncture Therapy ; Comorbidity

Objective To investigate the clinical and magnetic resonance imaging(MRI) manifestations of Rosai-Dorfman disease(RDD) in central nervous system. Method The clinical and MRI data of 5 cases of RDD in central nervous system confirmed by pathology in the PLA General Hospital were analyzed retrospectively. Results The 5 cases included 4 males and 1 female,aged(39.8±21.7) years on average.Among them,4 cases were located in the intracranial area and 1 case in the thoracic spinal canal.The lesion showed isointense signal on T₁ weighted image and iso,slight-hypo,and slight-hyperintense signals on T₂ weighted image,and it presented intensively homogeneous enhancement in contrast-enhanced MRI.Two cases showed compressed brain area with edema around the left parietal and left frontotemporal dura,thickening and enhancement in the adjacent dura,and dural tail sign.Three cases presented bone destruction in adjacent diploe and thoracic vertebrae.One case showcased slight-hypo perfusion of the left parietal dura in arterial spin labeling. Conclusions RDD lesion usually appears as iso,slight hypo and slight hyper-intense signals on T₂ weighted image and presents intensively homogeneous enhancement in contrast-enhanced MRI.The disease may involve the adjacent bone and the lesion shows slight hypo-perfusion on perfusion images.The MRI manifestations of RDD are characteristic,which are helpful for preoperative diagnosis and evaluation of RDD.
Central Nervous System/pathology* ; Female ; Head ; Histiocytosis, Sinus/pathology* ; Humans ; Magnetic Resonance Imaging/methods* ; Male ; Retrospective Studies

The treatment of refractory Glaucoma is a difficult problem in clinical ophthalmology. For refractory glaucoma patients with hyphema, shallow anterior chamber, anterior conglutination of peripheral chamber angle, corneal endothelium dystrophy or decompensated, at present, there is no effective treatment. In order to solve this problem, a new type posterior integral glaucoma valve with IOP control device was designed using medical titanium alloy, and the valve model was established by Abaqus software, and the stiffness and preload of the valve were analyzed by finite element method. The results showed that the opening and closing of the valve were controlled automatically by the pressure difference between the front and back of the valve, and the opening and flow rate of the valve increase dynamically with the increase of intraocular pressure, and finally reached the set ideal IOP value of steady state.
Finite Element Analysis ; Follow-Up Studies ; Glaucoma ; Glaucoma Drainage Implants ; Humans ; Intraocular Pressure ; Treatment Outcome

OBJECTIVE: To make a retrospective analysis of the situation and process of treating skiers' injuries in the medical station of the Wanlong ski resort in Chongli and the nearest treatment hospital, and to provide a basis for the establishment and optimization of the treatment process between the medical station of the Winter Olympics ski resort and the nearest treatment hospital, and to gain experience for medical security of mass skiing. METHODS: The data of all ski injuries in Chongli District were collected from the medical station of the Wanlong ski resort during the 2018-2019 snow season (November 2018 to April 2019) and the nearest treatment hospital during two periods (March 2019, and November 2019 to January 2020). The differences of injury causes, injury types, injury sites, and treatment effects of the injured skiers were analyzed. RESULTS: A total of 755 cases of ski injuries were recorded in the medical station of Wanlong ski resort, the estimated incidence of injury was 2.02‰ per day. The nearest treatment hospital treated a total of 838 injured skiers from different ski resorts in Chongli District in the two periods. In the records of the ski resort medical station, the main causes of injury were technical defects and turnovers (53.6%). Knee joint injury rate was the highest (18.7%), followed by head and neck (12.9%) and lower limb (11.9%). The number of injuries on intermediate roads was the highest (40.0%), the greatest number of injuries (81.2%) occurred when the age of skiing was less than 5 years. In the records of the nearest treatment hospital, the injury types were fracture or fissure fracture, contusion and trauma, and muscle and soft tissue injury, accounting for 30.5%, 27.4%, and 21.2% respectively. 9.6% of the injured took the snow field ambulance to the hospital, and 50% of them suffered from fractures or fissure fractures. CONCLUSION The injury rate of skiing in the 2018-2019 snow season of the Wanlong ski resort in Chongli was higher than that reported by foreign literature. Severe trauma (including severe fractures and concussions) could occur and patients needed to be transferred to the nearest hospital for treatment. The ski resort medical station and the nearest treatment hospital should be strengthened with adequate medical staff and equipment, and promote cooperation in the timely referral of seriously injured patients, the organization and construction of ski patrols and the medical security of large-scale competitions, thus playing an important role in forming a grassroots network of medical security and treatment system for skiing.
Athletic Injuries/therapy* ; Child, Preschool ; Hospitals ; Humans ; Retrospective Studies ; Seasons ; Skiing

OBJECTIVE: To make a retrospective analysis of the injuries of skiing population in a large ski resort in Chongli, China and provide a basis for predicting the rapidly increasing medical needs for ski injuries in the context of the 2022 Winter Olympic Games. METHODS: The basic data of all injured skiers who were treated in a medical station of a large ski resort in Chongli during the snow season from November 2017 to March 2018 and from November 2018 to March 2019 were collected. The number of skiers, the number of injuries, the causes of injuries, the types of injuries and the locations of injuries were compared. RESULTS: A total of 753 skiers were injured in two snow seasons, and the estimated average incidence of injury was 4.53 and 4.46 per 1 000 skier days at the resort respectively. The average daily injury rate per 1 000 skiers in November of the two snow seasons was relatively low, with 2.20 and 1.38 cases respectively. The difference of injury rate in different months might have little to do with snowfall and more to do with passenger flow. In both the snow seasons, men accounted for more injuries than women, and injured skiers aged between 21 and 30 accounted for the largest proportion, reaching 36.8%. The main causes of injuries were falls (76.6%). The highest rate of injury was in the head and neck (17.9%), followed by the knee (17.4%) and wrist and fingers (13.3%). The most common types of injuries were contusion and trauma (29.5%) and joint and/or ligament injuries (22.2%). Children (2-12 years old) accounted for 12.7% of all the injured skiers. The rate of moderate to severe injuries (including fractures, concussions, etc.) was 34.8% among the injured patients over 50 years of age. CONCLUSION The snow resort should focus on injuries to children and elderly skiers and carry out targeted guidance and rescue work. In order to better ensure the medical safety of skiers, the ski resort medical station and nearby treatment hospitals should be equipped with a corresponding number of medical personnel and equipment, and the ski resort should further improve its safety management and rescue system.
Adult ; Aged ; Athletic Injuries/epidemiology* ; Child ; Child, Preschool ; China/epidemiology* ; Female ; Humans ; Incidence ; Male ; Retrospective Studies ; Skiing ; Young Adult

【Objective】 We sought to compare ultrasound superb micro- vascular imaging （SMI） and contrast- enhanced ultrasound（CEUS）in the evaluation of carotid plaque neovascularization，and to understand the feasibility of SMI as a method to screen neovascularization of plaque.【Methods】A total of 60 cases，with a total of 109 plaques underwent SMI and CEUS to detect neovascularization of plaque.【Results】SMI and CEUS examination results were consistent in 101 of 109 plaques. The cost of SMI was less than CEUS（￥150 vs. ￥900）. There was significant difference in examination time between SMI and CEUS［（5.0 ± 1.4 vs. 18.5 ± 2.2）min，P < 0.05］.【Conclusion】Preliminary results showed that these two methods have good consistency. SMI also has advantages ：simple ，less time-consuming ，cheap and low risk. It indicates that SMI may be an effective screening method for neovascularization in plaques.

OBJECTIVETo establish discriminant functions of diarrhea-predominant irritable bowel syndrome (IBS-D) by studying it from quantitative diagnosis angle, hoping to reduce interference of subjective factors in diagnosing and differentially diagnosing Chinese medical syndromes of IBS-D.

METHODSA Chinese medical clinical epidemiological survey was carried out in 439 IBS-D patients using Clinical Information Collection Table of IBS. Initial syndromes were obtained by cluster analysis. They were analyzed using step-by-step discrimination by taking information of four Chinese medical diagnostic methods and serum brain-gut peptides (BGP) as variables.

RESULTSClustering results were Gan stagnation Pi deficiency syndrome (GSPDS), Pi-Wei weakness syndrome (PWWS), Gan stagnation qi stasis syndrome (GSQSS), Pi-Shen yang deficiency syndrome (PSYDS), Pi-Wei damp-heat syndrome (PWDHS), cold-damp disturbing Pi syndrome (CDDPS). Of them, GSPDS was mostly often seen with effective percentage of 34. 2%, while CDDPS was the least often seen with effective percentage of 5.5%. A total of 5 discriminant functions for GSPDS, PWWS, GSQSS, PSYDS, and PWDHS were obtained by step-by-step dis- crimination method. The retrospective misjudgment rate was 4.1% (16/390), while the cross-validation misjudgment rate was 15.4% (60/390).

CONCLUSIONThe establishment of discriminant functions is of value in objectively diagnosing and differentially diagnosing Chinese medical syndromes of IBS-D.

Alarmins ; Brain ; Cluster Analysis ; Diarrhea ; classification ; diagnosis ; Hot Temperature ; Humans ; Irritable Bowel Syndrome ; classification ; diagnosis ; Medicine, Chinese Traditional ; Qi ; Retrospective Studies ; Surveys and Questionnaires ; Yang Deficiency

To improve the quality standard of Angelica sinensis, solve the problem of lacking relevant reference substance, a new method-based on the standard reference extract (SRE) was applied to achieve the quality control of Angelica sinensis. SRE of Angelica sinensis was obtained by chromatographic separation technology. After calibration of three makers of the SRE, an UPLC analytical method was developed to determinate the contents of the makers. T-test was used for comparison of the determination results of two methods (reference substances and SRE as reference, respectively), and the results demonstrated that there is no significant difference between the two methods. The presented method is very convenient and practical, which can be used for the quality control of Angelica sinensis.
Angelica sinensis ; chemistry ; Calibration ; Chromatography, High Pressure Liquid ; standards ; Drugs, Chinese Herbal ; chemistry ; standards ; Quality Control ; Reference Standards

OBJECTIVETo investigate the renal protective effect of sodium ferulate magnetic nanoparticle targeting therapy in septic rats receives norepinephrine treatment.

METHODSFirst we constructed sodium ferulate magnetic nanoparticle, Wistar male rats were randomly divided into 4 groups (n = 6): control group, septic group, norepinephrine treatment group (NE treatment group) and NE plus sodium ferulate magnetic nanoparticle treatment group (NE + SF group), septic rat model was reproduced by intravenous injection of lipolysaccharide (IPS) in rats in NE treatment group norepinephrine were used to elevate the blood pressure of septic rats, in NE + SF group sodium ferulate magnetic nanoparticle was injected via tail vein, magnetic field was placed near renal region. Urinary concentration of N-acetyl-beta-D-glucosaminidase (NAG), kidney injury molecule (KIM-1) and neutrophil gelatinase-associated lipocalin (NGAL), renal tissue concentration of malonaldehyde (MDA), superoxide dismutase (SOD), and serum concentration of blood urea nitrogen (BUN), creatinine (Cr), alanine aminotransferase (ALT), aspartate aminotransferase (AST) were measured 3 hours after treatment.

RESULTSAfter injected LPS via tail vein, systolic blood pressure, pH value, PaO2 and PaCO2 of arterial blood of septic rats decreased significantly. Systolic blood pressure, pH value, PaO2 and PaCO2 of arterial blood returned to baseline approximately after norepinephrine treatment, sodium ferulate magnetic nanoparticle targeting therapy did not change hemodynamic effects of norepinephrine. Compared with control group, urine NAG, KIM-1 and NGAL of sepsis group were increased significantly (P < 0.01), after treatment with norepinephrine, urine NAG, KIM-1 and NGAL of NE treatment group were elevated rapidly compared with those of sepsis group (P < 0.01), combined with sodium ferulate magnetic nanoparticles targeting treatment, urine NAG, KIM-1 and NGAL of NE + SF group were decreased significantly compared with those of sepsis group and NE treatment group (P < 0.01). Compared with control group, renal tissue MDA levels of septic rats increased significantly (P < 0.01), NE treatment could notably raise MDA levels compared with those of sepsis group (P < 0.01), renal tissue MDA levels of NE + SF group were decreased significantly compared with those of sepsis group and NE treatment group (P < 0.01). Compared with control group, renal tissue activities of SOD of sepsis group and NE treatment group were decreased significantly (P < 0.01), after targeted treatment with sodium ferulate magnetic nanoparticle, renal tissue SOD activities of NE + SF group increased significantly compared with those of sepsis group and NE treatment group (P < 0.01 vs sepsis group and NE treatment group). Serum BUN, Cr, ALT, AST levels did not significantly change in each groups.

CONCLUSIONSodium ferulate magnetic nanoparticle targeting therapy can effectively decrease urine NAG, KIM-1, NGAL and renal tissue MDA level, increase tissue SOD activity of sepsis group and NE treatment group rats, thus protect renal function of septic rats.

Animals ; Coumaric Acids ; administration & dosage ; pharmacology ; Kidney ; drug effects ; pathology ; Magnetics ; Male ; Nanoparticles ; Rats ; Rats, Sprague-Dawley ; Sepsis ; pathology ; urine