Abstract: Objective　To investigate the molecular characteristic and evolutionary trends of full-genome sequences of coxsackievirus A2 (CV-A2) and A5 (CV-A5) in Changsha City. Methods　The CV-A2 and CV-A5 strains were isolated and detected from patients with hand, foot and mouth disease (HFMD) cases. The full-genome sequences of CV-A2 and CV-A5 strains were obtained using NGS sequencing. Homology and phylogenetic tree analysis were performed, and the recombination regions of the strains were examined by SimPlot software. Results　The full-genome sequences of CV-A2 and CV-A5 strains were obtained from routine surveillance cases of HFMD in Changsha in 2019. The CV-A2 strain was named S281/Changsha/CHN/2019 with the full-genome sequence of 7 422 bp long; the CV-A5 strain was named S272/Changsha/CHN/2019 with the full-genome sequence of 7 425 bp long. Homology analysis of the isolates by comparison with the nucleic acid sequences of CV-A2 and other CV-A2 strains in China showed that the non-structural protein region shared lower similarity than that of structural protein region. The CV-A2 showed 79.20% similarity with Fleetwood strain (NC038306), showed the highest similarity 95.60% with MN419014 strain from Hubei Province. The non-structural protein 3C and 3D region shared the lowest similarity with MN419014, 90.51 and 92.06%, respectively. Phylogenetic tree analysis showed that 3C and 3D regions were located in the CV-A4 branch. Amino acid mutation sites were found in non-structural protein region, and the amino acid sequence in structural protein region was conserved. SimPlot analysis showed that genetic recombination was found in the 3C and 3D region of CV-A2 strains. The full-genome sequence of CV-A5 showed 80.7% similarity with the Swartz (AY421763) and 97.43% similarity with the strain (MH111030) from Australian. Homology analysis showed that the non-structural protein region shared lower similarity than that of structural protein region, based on full-genome of CV-A5. Phylogenetic tree analysis showed that CV-A5 and MH111030 were in the same branch, indicating that CV-A5 strain not from local. The amino acid sequence of CV-A5 strain was conserved. Conclusions　The CV-A2 strain in Changsha City shared genome sequence information with CV-A4, and the CV-A5 strain was imported from abroad. Our findings are expected to understand the molecular and recombination characteristics of CV-A2 and CV-A5, provided the data of evolution and genetic features of the coxsackievirus, and interrupt disease transmission in a timely and effective manner.

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics* ; Child ; China/epidemiology* ; Cryptorchidism/genetics* ; Disorders of Sex Development/genetics* ; Female ; Genital Diseases, Male ; Genotype ; Humans ; Hypospadias/genetics* ; Male ; Membrane Proteins/genetics* ; Penis/abnormalities* ; Phenotype ; Retrospective Studies ; Steroid 21-Hydroxylase/genetics*

OBJECTIVE: To investigate the incidence rate and risk factors for metabolic bone disease of prematurity (MBDP) in very low birth weight/extremely low birth weight (VLBW/ELBW) infants. METHODS: The medical data of 61 786 neonates from multiple centers of China between September 1, 2013 and August 31, 2016 were retrospectively investigated, including 504 VLBW/ELBW preterm infants who met the inclusion criteria. Among the 504 infants, 108 infants diagnosed with MBDP were enrolled as the MBDP group and the remaining 396 infants were enrolled as the non-MBDP group. The two groups were compared in terms of general information of mothers and preterm infants, major diseases during hospitalization, nutritional support strategies, and other treatment conditions. The multivariate logistic regression analysis was used to investigate the risk factors for MBDP. RESULTS: The incidence rate of MBDP was 19.4% (88/452) in VLBW preterm infants and 38.5% (20/52) in ELBW preterm infants. The incidence rate of MBDP was 21.7% in preterm infants with a gestational age of < 32 weeks and 45.5% in those with a gestational age of < 28 weeks. The univariate analysis showed that compared with the non-MBDP group, the MBDP group had significantly lower gestational age and birth weight, a significantly longer length of hospital stay, and a significantly higher incidence rate of extrauterine growth retardation ( CONCLUSIONS A lower gestational age, hypocalcemia, extrauterine growth retardation at discharge, and neonatal sepsis may be associated an increased risk of MBDP in VLBW/ELBW preterm infants. It is necessary to strengthen perinatal healthcare, avoid premature delivery, improve the awareness of the prevention and treatment of MBDP among neonatal pediatricians, and adopt positive and reasonable nutrition strategies and comprehensive management measures for preterm infants.
Birth Weight ; Bone Diseases, Metabolic/etiology* ; China/epidemiology* ; Female ; Humans ; Infant ; Infant, Extremely Low Birth Weight ; Infant, Newborn ; Infant, Premature ; Infant, Very Low Birth Weight ; Pregnancy ; Retrospective Studies ; Risk Factors

Objective:To analyze the main factors affecting the Ziziphus jujuba distribution and expand the understanding of its distribution and the corresponding influencing factors by comparing the distribution sites of Z. jujuba predicted by models with those recorded in the literature. Method:More than 200 distribution sites of Z. jujuba accompanied by 55 environmental factors were obtained from literature and specimen review. The environmental factors that affect the distribution of Z. jujuba were explored by maximum entropy （MaxEnt） model， and the potential distribution areas of Z. jujuba in China were analyzed by ArcGIS， followed by the verification of the main environmental factors using receiver-operating characteristic （ROC） curve and Jackknife method. Result:The area under the curve （AUC） values for the test data and training data were both greater than 0.9， which perfectly satisfied the standard， indicating that the research results were accurate and reliable. Conclusion:The annual average temperature， the average temperature in May， the average temperature in the warmest season， vegetation type， soil type， average temperature in June， average temperature in September， and average temperature in August are proved to be the main environmental factors affecting the distribution of Z. jujuba， which can be found almost all over China， except for Heilongjiang and Tibet. Z. jujuba is most suitable to be planted in southeastern Sichuan， Chongqing， southern Gansu， Ningxia， most areas of central Shaanxi， eastern and southwestern Shanxi， Henan， eastern and northern Hubei， northern and eastern Anhui， Shandong， Hebei， Beijing， Tianjin， western Liaoning， and Zhejiang. As revealed by literature review， the most suitable growing areas of Z. jujuba are southeastern Sichuan， central Shaanxi， southwestern Shanxi， western and northern Henan， Shandong， and southwestern and eastern Hebei.

OBJECTIVE: To evaluate the clinical and radiological results of patients with thoracic and lumbar fracture and dislocation treated by posterior transforaminal decompression and interbody fusion. METHODS: From June 2010 to June 2017, posterior transforaminal decompression, interbody fusion combined with pedicle screw fixation were performed in 21 patients with thoracic and lumbar fracture and dislocation. Their clinical and radiological data were collected and retrospectively analyzed, including 15 males and 6 females, aged from 25 to 58 years with an average of 45 years old. According to the criterion of American Spinal Injury(ASIA), preoperative neurological function was graded A in 3 cases, B in 7 cases, C in 6 cases, D in 4 cases and E in 1 case. Operative time and intraoperative blood loss and correlative complications were recorded. And VAS score, ODI and Cobb angle were evaluated before and after surgery. The improvement of neurological function was also analyzed at the final follow-up. Intervertebral bony fusion was observed during the follow-up by CT three-dimensional reconstruction. RESULTS: The operative time was 150 to 240 min with an average of (192±47) min. The intraoperative blood loss was 380 to 750 ml with an average of(603±120) ml. Dura sac tearing and cerebral fluid leakage occurred in 3 cases and were repaired during operation; superficial wound infection occurred in 1 case, and got healing after dressing change. The postoperative follow-up duration was 24 to 45 months with an average of(37.0±9.5) months. VAS score was improved from preoperative 8.9±0.4 to immediately postoperative 4.2±1.3(<0.05). At the final follow-up, VAS score decreased further to 3.6±0.8. ODI was decreased from preoperative (95.30±3.52)% to (32.51±6.30)% at the final follow-up (<0.05). Cobb angle was corrected from preoperative (21.2±8.8)° to immediately postoperative(2.3±3.1)° (<0.05). At the final follow-up, Cobb angle was (3.2±2.5)°, showing no significant difference with immediately postoperative value. The neurological function was grade A in 3 cases, B in 3 cases, C in 5 cases, D in 6 cases and E in 4 cases at the final follow-up. All the patients got solid intervertebral bone fusion in 8 to 13 months after operation, with an average fusion time of (10.3±2.5) months. CONCLUSIONS For the patients with thoracic and lumbar fracture and dislocation mainly involving intervertebral disc and endplate plane, posterior transforaminal decompression and interbody fusion not only is less invasive, but also can effectively reconstruct spinal three column and obtain good biomechanical stability. And, it is beneficial for the good recovery of neurological function.
Adult ; Decompression, Surgical ; Female ; Humans ; Lumbar Vertebrae ; Male ; Middle Aged ; Pedicle Screws ; Retrospective Studies ; Spinal Fusion ; Treatment Outcome

We delineated the molecular characteristic of recombinant strain GⅡ.P16/GⅡ.2 of norovirus associated with acute viral gastroenteritis outbreaks in Fujian Province in winter of 2016.Norovirus were detected in specimens of patients collected from the gastroenteritis outbreaks by real time reverse transcription-PCR and reverse transcription-PCR (RT-PCR).The PCR products of the positive samples were purified,and partial RNA dependent RNA polymerase (RdRp) gene and partial capsid gene were sequenced.The sequences were analyzed using bioinformatics software and online database,and phylogenetic tree were also constructed.Norovirus were detected in all 18 stools.Analysis of 9 positive sequences indicated an emergence of norovirus GⅡ.P16/ GⅡ.2 and confirmed being the cause of gastroenteritis outbreaks.All the strains shared homology of 98％ with strains of Kawasaki 194 of Japan detected in 2016 and 97.7％-98.8％ with IPH2161-08VG06 of Belgium detected in 2008,RdRp and capsid separately.These outbreak strains showed some degree of differences from the predominant strain,2012 Sydney GⅡ.4 variant.This is the first time to have found norovirus GⅡ.P16/ GⅡ.2 causing viral gastroenteritis outbreaks in Fujian.More in-depth analysis of the Norovirus GⅡ.P16/ GⅡ.2 could be useful to optimize preventative strategies and develop new and more effective therapeutic measure.

ObjectiveTo investigate the influence of unilateral cryptorchidism on the levels of serum anti-müllerian hormone (AMH) and inhibin B in children.

METHODSWe enrolled 65 patients with unilateral cryptorchidism and 45 healthy children in this study. We measured the length and circumference of the penis, the testis volume in the cryptorchidism side, and the levels of serum AMH and inhibin B at the age of 6 and 12 months, respectively.

RESULTSCompared with the healthy controls, the patients with unilateral cryptorchidism showed significant decreases at 12 months in serum AMH (［108.06±12.40］ vs ［103.26±17.57］ ng/ml, P<0.05) and inhibin B (［77.43±5.66］ vs ［70.21±5.69］ pg/ml, P<0.05). No statistically significant differences were found in the length and circumference of the penis and the testis volume in the cryptorchidism side at 6 and 12 months (P>0.05), or in the levels of serum AMH and inhibin B at 6 months (P>0.05).

CONCLUSIONSUnilateral cryptorchidism affects the gonadal function of the patient, and orchiopexy should be timely performed in order to reduce its impact.

Anti-Mullerian Hormone ; blood ; Case-Control Studies ; Cryptorchidism ; blood ; pathology ; Humans ; Infant ; Inhibins ; blood ; Male ; Orchiopexy ; Organ Size ; Penis ; pathology ; Testis ; pathology ; physiopathology ; Transforming Growth Factor beta

BACKGROUNDCD4 count is used to determine antiretroviral therapy (ART) eligibility. In China, flow cytometers are mostly located in urban areas with limited access by patients residing in remote areas. In an attempt to address this issue, we conducted a study to validate the performance of Alere PIMA point-of-care CD4 analyzer.

METHODSVenous and finger-prick blood specimens were collected from HIV-positive participants from two voluntary counseling and testing sites in Yunnan Province. Both venous and finger-prick blood specimens were tested with the PIMA analyzer. Venous blood specimens tested with the Becton Dickinson FACSCalibur were used as a reference.

RESULTSVenous specimens from 396 and finger-prick specimens from 387 persons were available for analysis. CD4 counts by PIMA correlated well with those from FACSCalibur with an R2 of 0.91 for venous blood and 0.81 for finger-prick blood. Compared to FACSCalibur, the PIMA analyzer yielded lower counts with a mean bias of - 47.0 cells/μl (limit of agreement, [LOA]: -204-110 cells/μl) for venous blood and -71.0 cells/μl (LOA: -295-153 cells/μl) for finger-prick blood. For a CD4 threshold of 350 cells/μl, the positive predictive value (PPV) of PIMA was 84.2% and 75.7% and the negative predictive value (NPV) was 97.6% and 95.8% for venous and finger-prick blood, respectively. For an ART threshold of 500 cells/μl, the corresponding PPV was 90.3% and 84.0% and NPV was 94.3% and 93.4%, respectively.

CONCLUSIONSCD4 counting using venous blood with PIMA analyzers is a feasible alternative to a large flow cytometer to determine ART eligibility.

Adolescent ; Adult ; Aged ; Biological Assay ; methods ; Blood Specimen Collection ; CD4 Lymphocyte Count ; methods ; Child ; China ; Female ; HIV Infections ; diagnosis ; Humans ; Male ; Middle Aged ; Sensitivity and Specificity ; Young Adult

Objective To investigate the clinical value of coronary artery Z-scores on echocardiography in diagnosing coronary artery abnormalities. Methods The echocardiography results of 612 patients with Kawasaki disease (KD) at the acute and recovery phase were retrospectively studied. Coronary artery luminal diameters were converted to body-surface-area-adjusted Z-scores. According to coronary Z-scores classiifcation, all the subjects were divided to four groups:415 cases with no dilation (ND), 133 cases with small coronary artery abnormalities (SCAAs), 47 cases with large coronary artery abnormalities (LCAAs), and 17 cases with giant coronary artery abnormalities (GCAAs). Clinical features (gender, age, typical clinical manifestations, fever duration) and laboratory results (CRP, ESR, WBC, PLT) were compared among all the four groups. Coronary artery diameters and the Z-scores were compared between acute and convalescence phase. Results Along with the increase of coronary Z-score, fever duration was prolonged [ND group:(7.75±3.12) d, SCAAs group (8.50±4.12) d, LCAAs group: (8.57±3.58) d, GCAAs group: (11.88±4.33) d, F=22.375, P<0.05]. With coronary Z-score increasing, PLT also increased (F=22.029, P=0.000), and the highest PLT was observed in GCAAs group. There were no significant differences in the CRP, ESR and WBC among all the four groups (F=0.236, 1.116, 0.121, all P>0.05). No significant different coronary diameters were found in ND cases between recovery and acute phase [(2.24±0.34) mm vs (2.33±0.36) mm, t=1.926, P > 0.05]. But there were significant difference in the coronary Z-scores of ND patients between recovery and acute phase (0.41±0.82 vs 1.17±0.75, t=8.332, P < 0.05). The coronary Z-scores in SCAAs group (1.32±0.89 vs 3.40±0.62, t=11.073, P < 0.05), LCAAs group (3.12±2.27 vs 6.20±1.28, t=4.579, P<0.05) and GCAAs group (11.88±6.77 vs 20.4±9.70, t=3.480, P<0.05) at recovery phase were smaller than values at acute phase. Conclusions The KD coronary Z-scores are the body-surface-area-adjusted standard value, and not subject to the influence of children growth and development. Therefore, it may accurately evaluate the severity of coronary artery abnormalities and its recovery process. Accurate quantitative of the coronary artery luminal dimensions is important in KD clinical management and prognosis prediction.