Objective:To explore the clinical characteristics and genetic variants in three children with late-onset Multiple acyl-Coenzyme A dehydrogenase deficiency (MADD type Ⅲ).Methods:Clinical data of three children diagnosed with late-onset MADD at the Children′s Hospital Affiliated to Zhengzhou University between March 2020 and March 2022 were retrospectively analyzed. All children were subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing. All children had received improved metabolic therapy and followed up for 1 ~ 3 years.Results:The children had included 2 males and 1 female, and aged from 2 months to 11 years and 7 months. Child 1 had intermittent vomiting, child 2 had weakness in lower limbs, while child 3 had no symptom except abnormal neonatal screening. Tandem mass spectrometry of the three children showed elevation of multiple acylcarnitines with short, medium and long chains. Children 1 and 2 showed increased glutaric acid and multiple dicarboxylic acids by urine Gas chromatography-mass spectrometry (GC-MS) analysis. All children were found to harbor compound heterozygous variants of the ETFDH gene, including a paternal c. 1211T>C (p.M404T) and a maternal c. 488-22T>G variant in child 1, a paternal c. 1717C>T (p.Q573X) and a maternal c. 250G>A (p.A84T) variant in child 2, and a paternal c. 1285+ 1G>A and maternal c. 629A>G (p.S210N) variant in child 3. As for the treatment, high-dose vitamin B2, levocarnitine and coenzyme Q 10 were given to improve the metabolism, in addition with a low fat, hypoproteinic and high carbohydrate diet. All children showed a stable condition with normal growth and development during the follow-up. Conclusion:The compound heterozygous variants of the ETFDH gene probably underlay the muscle weakness, remittent vomiting, elevated short, medium, and long chain acylcarnitine, as well as elevated glutaric acid and various dicarboxylic acids in the three children with type Ⅲ MADD.

Objective:To explore the differences in bacterial community structure between proximal colon cancer (PC), distal colon cancer (DC), and rectal cancer (RC), and the values of featured microbiota in differentiating PC with tumor markers.Methods:This case-control study enrolled 85 newly diagnosed colorectal cancer patients, including 22 PC, 15 DC and 48 RC patients, and 8 colorectal adenoma patients from May 2019 to July 2022 at the Department of General Surgery, Anyang Oncology Hospital. The blood and fecal samples were collected before surgery and then subjected to biochemical tests for tumor markers and 16S rDNA tests, respectively. SPSS (27.0.1) was applied to perform the t-test, one-way ANOVA, Mann-Whitney U test, Kruskal-Wallis H test, and Chi-Squared Test. Also, the receiver operating characteristic curve (ROC) was plotted on tumor markers and/or f_Bacteroidaceae with SPSS software .Results:All groups had significant differences in the CA125 ( F=3.543, P<0.05), CA72-4 ( F=3.596, P<0.05), and serum tumor-associated materials (TAM) levels ( F=5.787, P<0.01). In PC group, the levels of CA125 [PC vs RC, (36.84±6.30) kU/L vs (12.73±4.21) kU/L, P<0.01] and CA72-4 [PC vs RC, (45.56±10.86) kU/L vs (3.30±7.63) kU/L, P<0.01] were significantly higher than that of the RC group, while the level of TAM was remarkably elevated in PC group than in RC group [PC vs RC, (124.84±5.19) U/ml vs (102.44±3.63) U/ml, P<0.001] and CRA group [PC vs CRA, (124.84±5.19) U/ml vs (95.39±8.42) U/ml, P<0.01]. The LEfSe analysis showed that the featured microbiota in the PC group included f_Bacteroidaceae, f_Neisseriaceae, f_Clostridiaceae_1, f_Spirochaetaceae, and so on. The largest area under the ROC belonged to the combination of TAM and f_Bacteroidaceae, which reached 0.845 (95% CI 0.747-0.944), with sensitivity being 0.857 and specificity being 0.815. Conclusions:There is heterogeneity in gut microbiota composition among PC, DC, RC, and CRA. The combination of gut microbiota and tumor biomarkers demonstrated good differentiating effects in proximal colon cancers.

Objective　To analyze the antibiotic resistance of clinical isolates from Western China in 2021, providing a reference for guiding the rational use of antibiotics in clinical practices and controlling nosocomial infections. 　　　　Methods　Bacterial samples were collected from nine hospitals in 5 autonomous regions and provinces in Northwest China (690 strains in Ningxia, 141 strains in Gansu, 133 strains in Xinjiang, 179 strains in Qinghai, and 151 strains in Shaanxi) in 2021. MALDI-TOF mass spectrometry was used to confirm bacterial identification, and bacterial susceptibility testing was performed using automated susceptibility testing systems. The results of the susceptibility tests were interpreted according to the 2021 CLSI standards. Results　A total of 1 294 clinical strains (non-duplicates) were collected, primarily sourced from sputum specimens 312 strains (24.11%), urine specimens 235 strains (18.16%), pus specimens 147 strains (11.36%), and blood specimens 128 strains (9.89%). Among the 1 294 pathogenic strains, Gram-negative bacteria accounted for 69.47%, whereas Gram-positive bacteria accounted for 30.53%. From the Gram-negative organisms, the most common Enterobacterales strains included E.coli 258 strains (19.94%), K.pneumoniae 166 strains (12.83%), E.cloacae 39 strains (3.01%), and K.oxytoca 36 strains (2.78%). Non-fermentative Gram-negative bacilli constituted 20.63% of all isolates, mainly including P.aeruginosa 129 strains (9.97%) and A.baumannii 87 strains (6.72%). Among Gram-positive bacteria, S.aureus 267 strains (20.63%), E. faecium 68 strains (5.26%), and E.faecalis 48 strains (3.71%) were predominant. Enterobacteriaceae remained highly sensitive to carbapenem antibiotics; however, K.oxytoca had a resistance rate exceeding 15%. P.aeruginosa showed resistance rates of 29.5% and 14% to imipenem and meropenem, respectively; A.baumannii showed resistance rates of 63.2% to both drugs. The detection rate of MRSA was 36.7%, with MRSA showing significantly higher resistance rates than MSSA to most tested drugs. No S.aureus isolates were found resistant to vancomycin, teicoplanin, or linezolid. E.faecium strains demonstrated much higher resistance rates to most of the tested drugs compared to E.faecalis, with a few vancomycin-resistant strains found in both. Conclusions　Bacterial resistance to commonly used antibiotics was still severe in Western China. Therefore, medical institutions should continue to enhance the monitoring of bacterial resistance, standardize the management and use of antibiotics, and reduce the transmission and spread of resistant bacteria within hospitals.

Objective:To evaluate the efficacy and safety of intravitreal ranibizumab combined with laser (IVR+ Laser) and the intravitreal ranibizumab (IVR) monotherapy for the treatment of diabetic macular edema (DME).Methods:A meta-analysis was conducted on randomized controlled trial (RCT) literature related to IVR+ Laser therapy and IVR alone for DME.Databases including Cochrane Library, PubMed, EMbase, Web of Science, SinoMed, CNKI, VIP and WanFang Data were searched from their inception to April 2022.Literature screening, data extraction, quality evaluation and cross-checking were conducted independently by two researchers according to inclusion and exclusion criteria.Then a meta-analysis was conducted using RevMan 5.4.1 software.The two therapies were compared in terms of best corrected visual acuity (BCVA), central macular thickness (CMT), mean number of injections and adverse events.Results:Twelve RCTs involving 1 695 eyes were included in the study.Meta-analysis showed that at the end of follow-up, IVR+ Laser demonstrated better improvement in BCVA and CMT than IVR alone, and there were significant differences in the changes in BCVA and CMT between the two groups (weighted mean difference[WMD]=-0.66, 95% confidence interval[ CI]: -1.11--0.21, P<0.01; WMD=-5.05, 95% CI: -9.21--0.89, P=0.02).IVR+ Laser required significantly fewer injections than IVR alone (WMD=-1.16, 95% CI: -2.07--0.25, P=0.01).There were no significant differences in the adverse events incidence between the two therapies (all at P>0.05). Conclusions:The safety of IVR+ Laser is comparable to IVR alone, and it requires fewer injections for the treatment of DME.

Objective:To compare proximal humerus internal locking system (PHILOS) and Multiloc intramedullary nail in the treatment of proximal humerus fracture-anterior dislocation.Methods:A retrospective study was performed to analyze the data of 33 patients with proximal humerus fracture-anterior dislocation who had been treated by open reduction and internal fixation from June 2015 to April 2021 at Department of Upper Limbs, Zhengzhou Orthopaedic Hospital. According to methods of internal fixation, the patients were divided into an extramedullary group and an intramedullary group. In the extramedullary group of 18 cases subjected to internal fixation with PHILOS, there were 8 males and 10 females with an age of (53.3 ± 10.6) years, and 1 2-part fracture, 15 3-part fractures and 2 4-part fractures by the Neer classification. In the intramedullary group of 15 cases subjected to internal fixation with Multiloc intramedullary nail, there were 8 males and 7 females with an age of (51.5 ± 11.2) years, and 14 3-part fractures and 1 4-part fracture by the Neer classification. The 2 groups were compared in terms of incision length, operation time, intraoperative blood loss, postoperative complications, and visual analog scale (VAS), range of shoulder motion, and Constant-Murley score at postoperative 12 months.Results:The 2 groups were comparable due to insignificant differences in their preoperative general data ( P>0.05). All patients were followed up for (20.8 ± 4.7) months. The incision length in the intramedullary group [(11.6 ± 1.7) cm] was significantly shorter than that in the extramedullary group [(17.6 ± 2.0) cm], and the intraoperative blood loss in the former [(106.7 ± 34.4) mL] was significantly lower than that in the latter [(151.7 ± 45.7) mL] ( P<0.05). The VAS scores at 1 week and 1 month after surgery [2.0 (2.0, 3.0) and 0.0 (0.0, 1.0) respectively] in the intramedullary group were significantly lower than those in the extramedullary group [3.0 (3.0, 3.3) and 1.0 (0.0, 1.3) respectively] ( P<0.05). The external rotation of the shoulder at the last follow-up in the intramedullary group (65.3° ± 15.5°) was significantly larger than that in the extramedullary group (50.6° ± 13.9°) ( P<0.05). There were no significant differences in operation time, incidence of postoperative complications, VAS score at 12 months after operation, Constant-Murley score or range of shoulder motion at the last follow-up between the 2 groups ( P>0.05). Conclusions:In the treatment of proximal humerus fracture-anterior dislocation, open reduction and internal fixation with both PHILOS and Multiloc intramedullary nail can result in a favorable prognosis when the fracture-dislocation is well reduced and fixated. However, the Multiloc intramedullary nail may lead to better early pain relief, less surgical invasion, and better functional recovery of the external rotation of the shoulder.

Objective:To analyze the whole genome of Omicron variants causing the first local Omicron outbreak in Henan Province and to investigate the mutations in the SARS-CoV-2 genome for source tracing.Methods:Respiratory tract samples from COVID-19 cases in the Omicron outbreak in Henan Province from January 7 to 29, 2022 were subjected to whole-genome sequencing and sequence alignment analysis. Whole-genome identity, variations and evolution of the Omicron variants were analyzed.Results:Through high-throughput sequencing, the whole-genome sequences of SARS-CoV-2 were obtained from 120 cases, which accounted for 25.64% (120/468) of all COVID-19 cases in Anyang during the same period. Compared with the genome of Wuhan reference strain (NC_045512.2), there were 57-59 nucleotide mutation sites in the 120 whole genome sequences, and one or two nucleotide mutation sites were added to the shared 57 nucleotide sites. All of the 120 strains were VOC/Omicron (BA.1.1) variants and shared high homology. The whole-genome sequence obtained from the first case A contained 57 nucleotide mutation sites, while apart from the 57 identical nucleotide mutation sites, one specific mutation site (C1594T) was found in the whole-genome sequence obtained from the first case B, suggesting that the two cases were in the same transmission chain. After comparing with the database of domestic and imported cases by the Chinese Center for Disease Control and Prevention and the Henan Provincial Center for Disease Control and Prevention, it was found that the current outbreak was linked with the same transmission chain as the existing local epidemics in other provinces. Moreover, epidemiological investigation showed that on January 2, case A had come into contact with her cousin and his family who returned from an affected area outside the province.Conclusions:Based on the gene sequencing results and epidemiological investigation, the COVID-19 outbreak in Anyang city, Henan Province was a local epidemic and the source of it was a college student who returned to Anyang city from other province on December 28, 2021. These infections were linked to the same transmission chain as the existing local infection in other provinces.

Objective:To investigate the efficacy of fixation with cannulated screws alone via the Kocher approach in the treatment of adult humeral capitulum fractures.Methods:From August 2016 to August 2020, 16 patients with humeral capitulum fracture were treated at Department of Upper Limb Orthopedics, Zhengzhou Orthopaedic Hospital. They were 10 males and 6 females, aged from 36 to 62 years (average, 45 years). The left side was affected in 10 cases and the right side in 6. According to the Ring classification, 3 cases were type Ⅰ, 3 cases type Ⅱ, 6 cases type Ⅲ, and 4 cases type Ⅳ. All patients were treated with the Kocher approach on the lateral side of the elbow. After reduction under direct vision, the fractures were fixated temporarily with Kirschner wires and finally with cannulated screws. On the second postoperative day, the patients started active flexion and extension of the elbow joint and took indomethacin orally to prevent heterotopic ossification. At the last follow-up, the curative efficacy was evaluated according to the Mayo elbow performance score (MEPS). The flexion and extension of the elbow joint and the rotation of the forearm were also recorded.Results:All patients were followed up for 10 to 19 months (mean, 14.3 months) after surgery. Bony union was achieved after 7 to 12 monthes (average, 11.3 monthes) in all the 16 patients, 2 of whom developed heterotopic ossification. By the MEPS evaluation at the last follow-up, 8 cases were excellent, 6 good and 2 fair, scoring an average of 89.5 points (from 73 to 95 points). At the last follow-up, the elbow flexion ranged from 80° to 130° (averaging 113°), extension from 5° to 30° (averaging 15°), forearm pronation from 62° to 75° (averaging 67°), and forearm supination from 50° to 90° (averaging 75°).Conclusion:When the fracture ends are exposed through the lateral Kocher approach, the fracture fragments fixated with cannulated screws only, and the patients encouraged to start elbow joint exercises in the early stage, the treatment of adult humeral capitulum fractures can result in satisfactory curative effects.

Objective:To analyze the genome characteristics and variations in nucleotides and amino acids of SARS-CoV-2 causing an outbreak in Henan Province in November 2021 and perform the traceability analysis.Methods:In this study, throat swab specimens from cases in the acute phase were collected and tested for the nucleic acids of SARS-CoV-2 by real-time fluorescent RT-PCR. SARS-CoV-2 nucleic acid-positive samples were subjected to high-throughput genome sequencing and whole-genome alignment analysis.Results:The median Ct values of ORF1ab gene and N gene in 70 positive specimens was 26.41 (15.58 to 39.27) and 24.43 (12.04 to 39.74), respectively. Compared with the sequence of Wuhan-Hu(NC_045512) reference strain, 47 to 49 nucleotide mutations sharing 47 nucleotide mutation and 41 amino acid mutations were found in 63 strains of successfully sequenced SARS-CoV-2. Nine nucleotide mutations and 12 amino acid mutations were found in the spike protein. The index case shared 47 mutations with the Russian imported cases in Henan Province on October 14 and the local cases in Jiangxi Province in October. Moreover, their genomes were highly homologous and they all belonged to the Delta variant (AY.122 evolutionary branch).Conclusions:Continuous monitoring of imported COVID-19 cases and prolonging the period of quarantine were needed to reduce the risk of local outbreak and epidemic caused by imported COVID-19 cases. Analysis of the genomic characteristics of SARS-CoV-2 and the variations in nucleotides and amino acids was conducive to trace the origin of COVID-19 outbreak quickly and provide reference for precise control.

OBJECTIVE: To carry out cyto- and molecular genetic testing for a child featuring facial dysmorphism and attention deficit and hyperactive disorder. METHODS: The child was subjected to routine peripheral blood lymphocyte chromosomal karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism array (SNP-array) analyses. RESULTS: The child's facial dysmorphism included low-set ears, curly ear auricle, protuberance of eyebrow arch, nostril notch, short and flat philtrum and thin upper lip. SNP-array revealed that he has carried a 4.883 Mb deletion at 2q37. His chromosomal karyotype was ultimately determined as 45, XY, der(2;21) (2pter→ 2q37.3::21p13→ 21p10::20p10→ 20pter), der(20) (21qter→ 21q10::20q10→ 20qter). CONCLUSION A rare case of 2q37 deletion syndrome involving three chromosomes was discovered. Combined use of various cyto- and molecular genetic techniques is crucial for the diagnosis of chromosomal abnormalities with complex structures.
Child ; Chromosome Deletion ; Chromosomes ; Chromosomes, Human, Pair 2 ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Translocation, Genetic

Objective:To investigate the etiological characteristics and drug resistance of non-typhoid Salmonella isolated from stool samples of children under 5 years old with diarrhea in Henan Province. Methods:Intestinal bacteria were isolated from fecal samples of 4 250 diarrhea children under five years old in five monitoring sites in Henan Province from 2015 to 2018. Serotypes and drug sensitivity of Salmonella strains were analyzed. The annual change in drug resistance was analyzed by Chi-square test and all data were analyzed retrospectively. Results:The detection rate of non-typhoid Salmonella in fecal samples was 8.73% (371/4 250). The highest detection rate was in the 0-1 age group (51.75%) and the peak season for Salmonella infection was from May to October. The most common serotype was Salmonella enteritidis (36.93%), followed by 4, 5, 12: i: - Salmonella (14.82%) and Salmonella typhimurium (14.02%). The non-typhoid Salmonella isolates were resistant to ampicillin and sulfamethoxazole with drug resistance rates of more than 80%, but more sensitive to ceftazidime, cefepime and cefoxitin. There were significant differences in drug resistance to cefepime, levofloxacin, ciprofloxacin, amikacin, doxycycline, chloramphenicol and compound neoforman among the strains isolated in different years ( P<0.05). Multidrug-resistant strains accounted for 86.52%. Conclusions:There was diversity in the serotypes of non-typhoid Salmonella in diarrheal children under five years old in Henan Province. The predominant serotype was Salmonella enteritidis. Drug resistance to common antibiotics was detected in the isolates, and most of them were multidrug-resistant.