Ankylosing spondylitis (AS) combined with lower cervical fracture is often categorized into unstable fracture, with a high incidence of neurological injury and a high rate of disability and morbidity. As factors such as shoulder occlusion may affect the accuracy of X-ray imaging diagnosis, it is often easily misdiagnosed at the primary diagnosis. Non-operative treatment has complications such as bone nonunion and the possibility of secondary neurological damage, while the timing, access and choice of surgical treatment are still controversial. Currently, there are no clinical practice guidelines for the treatment of AS combined with lower cervical fracture with or without dislocation. To this end, the Spinal Trauma Group of Orthopedics Branch of Chinese Medical Doctor Association organized experts to formulate Clinical guidelines for the treatment of ankylosing spondylitis combined with lower cervical fracture in adults ( version 2024) in accordance with the principles of evidence-based medicine, scientificity and practicality, in which 11 recommendations were put forward in terms of the diagnosis, imaging evaluation, typing and treatment, etc, to provide guidance for the diagnosis and treatment of AS combined with lower cervical fracture.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective To investigate the incidence rate,clinical characteristics,and prognosis of neonatal stroke in Shenzhen,China.Methods Led by Shenzhen Children's Hospital,the Shenzhen Neonatal Data Collaboration Network organized 21 institutions to collect 36 cases of neonatal stroke from January 2020 to December 2022.The incidence,clinical characteristics,treatment,and prognosis of neonatal stroke in Shenzhen were analyzed.Results The incidence rate of neonatal stroke in 21 hospitals from 2020 to 2022 was 1/15 137,1/6 060,and 1/7 704,respectively.Ischemic stroke accounted for 75％(27/36);boys accounted for 64％(23/36).Among the 36 neonates,31(86％)had disease onset within 3 days after birth,and 19(53％)had convulsion as the initial presentation.Cerebral MRI showed that 22 neonates(61％)had left cerebral infarction and 13(36％)had basal ganglia infarction.Magnetic resonance angiography was performed for 12 neonates,among whom 9(75％)had involvement of the middle cerebral artery.Electroencephalography was performed for 29 neonates,with sharp waves in 21 neonates(72％)and seizures in 10 neonates(34％).Symptomatic/supportive treatment varied across different hospitals.Neonatal Behavioral Neurological Assessment was performed for 12 neonates(33％,12/36),with a mean score of(32±4)points.The prognosis of 27 neonates was followed up to around 12 months of age,with 44％(12/27)of the neonates having a good prognosis.Conclusions Ischemic stroke is the main type of neonatal stroke,often with convulsions as the initial presentation,involvement of the middle cerebral artery,sharp waves on electroencephalography,and a relatively low neurodevelopment score.Symptomatic/supportive treatment is the main treatment method,and some neonates tend to have a poor prognosis.

Objective To investigate the clinical efficacy of different stents placement under endoscopic retrograde cholangiopancreatography(ERCP)in patients with malignant biliary obstruction(MBO)and the effect on patient survival time.Methods Clinical data of MBO patients treated with ERCP stent placement between January 2020 and March 2024 were collected,divided into recyclable stent group(33 cases),metal stent group(42 cases),and ordinary stent group(34 cases).Comparation of the three groups of preoperative and postoperative changes in liver function,complications of long-term cholangitis and pancreatitis,stent patency time,success rate of stent removal with a single clamping,survival time,monitoring follow-up situation.Results There was no statistically significant difference in the liver function of the three groups of patients before stent placement(P>0.05);One week after stent placement,the difference compared with preoperative between direct bilirubin(DBiL)and total bilirubin(TBiL)in the recyclable stent group and the metal stent group was significantly higher than that in the ordinary stent group,and the difference between the ordinary stent group and other two groups was statistically significant(P<0.05).The incidence of cholangitis in the recyclable stent group was the lowest,followed by the ordinary plastic biliary stent,and the metal biliary stent had the highest incidence of cholangitis,the incidence of cholangitis in the long term after stent placement was compared among the three groups of patients with a statistically significant difference(P<0.05).The incidence of postoperative pancreatitis in the three groups was not statistically significant(P>0.05).The success rate of stent removal with a single clamping was higher in the recyclable stent group than the ordinary stent group.Comparison of median stent patency time among the three groups,the difference was statistically significant(P<0.05).The metal stent group had the longest median patency time of 194.0 d,recyclable plastic stent had the second longest median patency time of 126.0 d,and ordinary plastic biliary stent had the shortest median patency time of 92.0 d.Median survival time among the three groups was statistically significant(P<0.05).The recyclable plastic biliary stent had the longest median survival time of 590.0 d,metal biliary stent had the second longest median survival time of 476.0 d,and ordinary plastic biliary stent had the shortest median survival time of 453.0 d.Conclusion Recyclable plastic biliary stent has a faster decrease in bilirubin index compared with the ordinary stent group after operation.And the recyclable plastic stent group has lower incidence of long-term cholangitis,higher success rate of one-time clamping of the stent,and more advantages in time to stent patency and survival time compared with ordinary plastic biliary stent,which is an effective choice of stenting modality for ERCP stent placement in patients with MBO.

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

Humans ; Spine ; Medicine, Chinese Traditional

The process of semen collection plays a key role in the quality of semen specimens. However, the association between semen collection time and semen quality is still unclear. In this study, ejaculates by masturbation from 746 subfertile men or healthy men who underwent semen analysis were examined. The median (interquartile range) semen collection time for all participants was 7.0 (5.0-11.0) min, and the median time taken for semen collection was lower in healthy men than that in subfertile men (6.0 min vs 7.0 min). An increase in the time required to produce semen samples was associated with poorer semen quality. Among those undergoing assisted reproductive technology (ART), the miscarriage rate was positively correlated with the semen collection time. After adjusting for confounders, the highest quartile (Q4) of collection time was negatively associated with semen volume and sperm concentration. A longer time to produce semen samples (Q3 and Q4) was negatively correlated with progressive and total sperm motility. In addition, there was a significant negative linear association between the semen collection time and the sperm morphology. Higher risks of asthenozoospermia (adjusted odds ratio [OR] = 2.06, 95% confidence interval [CI]: 1.31-3.25, P = 0.002) and teratozoospermia (adjusted OR = 1.98, 95% CI: 1.10-3.55, P = 0.02) were observed in Q3 than those in Q1. Our results indicate that a higher risk of abnormal semen parameter values was associated with an increase in time for semen collection, which may be related to male fertility through its association with semen quality.
Male ; Humans ; Semen Analysis ; Semen ; Sperm Motility ; Sperm Count ; Asthenozoospermia ; Spermatozoa

To discuss the effect of varicella vaccination on the clinical characteristics of herpes zoster (shingles) cases aged 20 years and under, and analyze its clinical features. Based on the Yichang Health Big Data Platform, a descriptive study was conducted to collect the information of cases aged 20 years and under in three medical institutions of Yichang Central People's Hospital, Yichang First People's Hospital and Yichang Second People's Hospital from March 2019 to September 2020. According to the history of varicella vaccine, cases were divided into vaccination group and non-vaccination group, and their clinical features and outcomes were compared. The results showed that 46 shingles cases, aged from 7 to 20 years old, were included in this study. 26 males (56.5%), 20 females (43.5%), 15 cases in vaccination group (32.6%) and 31 cases in non-vaccination group (67.4%). 28 cases had thoracic involvement, followed by lumbar (n=8), cranial (n=7) involvements and extremities (n=7). The spread of herpes skin area: 2 cases involved too large area, 21 cases of 10 cm×10 cm, 14 cases of 5 cm×5 cm, 9 cases of 1 cm×1 cm. Herpes number: 26 cases had 10-49 herpes, followed by <10 herpes (n=9), uncountable herpes (n=7) and 50-99 herpes (n=4). The clinical course[M(Q₁,Q₃)] lasted 20.5 (13.5,24.8) d averagely, 5 cases had postherpetic neuralgia (PHN) and 1 case had respiratory complications. Shingles decrustation time was significantly shorter in vaccination group (Z=-2.01, P<0.05), and there was no significant difference in other characteristics by vaccination. In conclusion, the number and spread of shingles in most children and adolescents are less, and the complications such as PHN are less. Varicella vaccination can reduce the decrustation time and relieve shingles cases with some clinical symptoms.
Adolescent ; Child ; Female ; Humans ; Male ; Young Adult ; Chickenpox/prevention & control* ; Herpes Zoster/prevention & control* ; Herpes Zoster Vaccine/therapeutic use* ; Herpesvirus 3, Human ; Neuralgia, Postherpetic/prevention & control*

Objective: To analyze the genetic characteristics of varicella-zoster virus (VZV) in people aged 20 years and under in Yichang City of Hubei Province from 2019 to 2020. Methods: Based on the Yichang Health Big Data Platform, we investigated cases 20 and under clinically diagnosed as herpes zoster in three hospitals from March 2019 to September 2020. Collecting vesicle fluid and throat swab samples of the cases and completing questionnaires to obtain basic information. Real-time fluorescent quantitative PCR was used for positive identification of the virus. PCR amplification of VZV's open reading frame (ORF) and sequencing of the products to determine the VZV genotype. Analyze mutations at some specific single nucleotide polymorphism (SNP) sites. Results: Among 46 cases of herpes zoster, the male to female ratio was 1.3∶1 (26∶20) and the age ranged from 7 to 20 years old. Fifteen cases had been vaccinated against varicella, including 13 and 2 cases of 1 and 2 doses, respectively. VZV strains were detected in 34 samples (73.91%), all belonging to Clade 2. Phylogenetic tree analysis of the nucleotide of ORF22 showed, compared with Clade 2 referenced strains, the sequence matching degree of nucleotide for all 34 samples was 99.0% to 100.0%. Conclusion: The main VZV strain causing herpes zoster in people aged 20 years and under in Yichang from 2019 to 2020 was Clade 2.
Humans ; Child ; Adolescent ; Young Adult ; Adult ; Herpesvirus 3, Human/genetics* ; Phylogeny ; Herpes Zoster/epidemiology* ; Polymorphism, Single Nucleotide ; Real-Time Polymerase Chain Reaction ; Nucleotides