The presence of high-level talents plays a crucial role in ensuring the successful establishment of national regional medical centers.It presents the high-level talent management experience of Henan Children's Hospital,aiming to facilitate the coordinated development of pediatrics in Central China.To address the practical challenges and difficulties encountered in high-level talent management within hospitals,lean talent management is achieved by standardizing the management structure,clarifying management objectives,refining the management mechanism,establishing a performance appraisal incentive system,and implementing an integrated'induction and utilization'management approach.These measures effectively facilitate the development of national children's regional medical centers.

Objective:To analyze the clinical and genetic characteristics of a child featuring Dias-Logan syndrome.Methods:A child with speech disorders and delayed psychomotor development from childhood who was admitted to the Rehabilitation Medicine Department of Children′s Hospital Affiliated to Zhengzhou University in July 2022 was selected as the research subject. Clinical data of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents. Potential variant was screened by whole exome sequencing, and candidate variant was verified by Sanger sequencing. This study was approved by the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2023-K-011).Results:The child has presented with global developmental delay, microcephaly, special facial features and behavioral problems. Genetic testing revealed a de novo variant of the BCL11A gene, namely c. 561_567delACACGCA(p.Q187fs*7), which was classified as pathogenic (PVS1+ PS2+ PM2_Supporting). Conclusion:The heterozygous variant of BCL11A gene probably underlay the Dias-Logan syndrome in this child. Above finding has enriched the phenotypic and mutational spectrum of the BCL11A gene and provides a basis for genetic counseling and clinical decision-making.

The report of the 20th National Congress of the Communist Party of China has made a major deployment to promote the expansion of high-quality medical resources and balanced regional layout, and the construction of national regional medical centers is an important measure to implement the landing. By analyzing the " three co-construction" mode of the National Children′s Regional Medical Center of Henan Children′s Hospital (Beijing Children′s Hospital Zhengzhou Hospital), this paper systematically introduced the internal and external decision-making, management and operation of the regional medical center from four aspects: management, talent, discipline and system. The practice and effectiveness in talent introduction and training, salary distribution, two-way communication, assessment and incentive, discipline construction, technology application, sharing and evaluation of scientific and technological innovation, institutional linkage and integration, as well as the construction of a hierarchical diagnosis and treatment system, were put forward. Suggestions such as construction according to local conditions, strengthening internal coordination, and optimizing external guarantee were put forward, so as to provide practical reference for the in-depth promotion of other national regional medical center construction projects.

OBJECTIVE: To carry out Sanger sequencing for MMACHC gene variants among 65 Chinese pedigrees affected with combined methylmalonic aciduria and homocysteinemia, and summarize their genetic and clinical characteristics and prognosis. METHODS: Clinical characteristics of the 65 children identified with Methylmalonic acidemia and homocysteinemia at the Children's Hospital Affiliated to Zhengzhou University (Zhengzhou Children's Hospital) from April 2017 to April 2022 were selected as the study subjects. Potential variants of the MMACHC gene were detected by direct sequencing of the PCR products. RESULTS: The median age of the 65 children was 3 months (14 days to 17 years old). These included 28 cases (43.08%) from neonatal screening, 11 cases (16.92%) with a history of jaundice, and 9 cases (13.85%) with various degrees of anemia. The main clinical symptoms included development delay, slow growth, epilepsy, hydrocephalus, lethargy, feeding difficulty, regression or decline in motor ability, recurrent respiratory infections, anemia, jaundice, respiratory and heart failures, hydrocephalus, limb weakness, and hypertension. Blood and urine tandem mass spectrometry screening has revealed increase of methylmalonic acid, propionyl carnitine, propionyl carnitine/acetylcarnitine ratio, and propionyl carnitine/free carnitine ratio to various extents, and blood homocysteine was increased in all patients. The detection rate of genetic variants was 98.46% (128/130), and in total 22 types of MMACHC gene variants were detected. The most common ones have included c.609G>A (W203X) (58/128), c.658-660del (K220del) (19/128), and c.80A>G (Q27A) (16/128). Two novel variants have been identified, namely c.565C>T (p.R189C) and c.624_ 625delTG (p.A208Afs), which were respectively predicted as likely pathogenic (PM2_Supporting+PM3+PP2+PP3) and pathogenic (PVS1+PM2_Supporting+PM3+PP2) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Exon 4 had the highest frequency for the detection. CONCLUSION Identification of MMACHC gene variants has confirmed the diagnosis in the children, among which the c.609G>A variant has the highest frequency. Discovery of the new variants has enriched the mutational spectrum of the MMACHC gene.
Humans ; Amino Acid Metabolism, Inborn Errors/genetics* ; Hydrocephalus ; Oxidoreductases

OBJECTIVE: To analyze the clinical phenotype and genetic variant in a child with Raynaud-Claes syndrome (RCS). METHODS: A child who was diagnosed with RCS at the Children's Hospital Affiliated to Zhengzhou University for delayed language and motor development in August 2022 was selected as the study subject. Clinical data of the child were collected, and potential genetic variant was detected by next-generation sequencing and Sanger sequencing. The pathogenicity of the candidate variant was analyzed. RESULTS: The child, a 4-year-and-4-month-old male, has manifested global developmental delay, speech disorders, special facial features and behavioral abnormalities. Genetic testing revealed that he has harbored a hemizygous c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene, which was not detected in either of his parents. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting). CONCLUSION The c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene probably underlay the PCS in this child. Above finding has expanded the mutational spectrum of the CLCN4 gene and enabled genetic counseling and prenatal diagnosis for his family.
Female ; Humans ; Male ; Pregnancy ; Chloride Channels/genetics* ; Genetic Counseling ; Genetic Testing ; Genomics ; High-Throughput Nucleotide Sequencing ; Mutation ; Child, Preschool

OBJECTIVE: To explore the clinical characteristics and genetic variants in two children with Tuberous sclerosis complex (TSC). METHODS: Two children who had presented at the Children's Hospital Affiliated to Zhengzhou University respectively in June 2020 and July 2021 were selected as the study subjects. Clinical data of the children were collected, and potential pathogenic variants were screened by whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of their family members. RESULTS: Child 1 was a 7-month-and-29-day-old male, and child 2 was a 2-year-and-6-month-old male. Both children had shown symptoms of epileptic seizures and multiple hypomelanotic macules. Genetic testing revealed that both children had harbored de novo variants of the TSC2 gene, namely c.3239_3240insA and c.3330delC, which were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as pathogenic (PVS1+PS2+PM2_Supporting). CONCLUSION This study has uncovered the genetic etiology for two children with TSC. Above findings have also enriched the phenotypic and mutational spectrum of TSC in the Chinese population.
Humans ; Infant ; Male ; Family ; Genetic Testing ; Genomics ; Mutation ; Tuberous Sclerosis/genetics* ; Child, Preschool ; East Asian People

Objective : To investigate the epidemiological and clinical characteristics of cases with pertussis in Yiwu City, Zhejiang Province, so as to provide insights into pertussis diagnosis and control. Methods: A total of 186 patients with definitive diagnosis of pertussis in medical institutions in Yiwu City from November 1, 2020 to August 31, 2022 were recruited, and subjects' demographic, clinical symptoms and history of pertussis vaccination were collected using questionnaire surveys. The temporal, population, and spatial distribution and clinical symptoms of pertussis were analyzed using a descriptive epidemiological method, and the clinical characteristics of pertussis patients with different doses of pertussis vaccination were compared. Results: Pertussis was found to predominantly occur during the period between July and November (101 cases, 54.30%), and the three highest-incidence regions included Jiangdong Street, Beiyuan Street and Choujiang Street (87 cases, 46.77%). The 186 pertussis cases included 105 males (56.45%) and 81 females (43.55%), and included 144 cases with age of onset under 7 year (77.42%). Preschool and diaspora children were predominant among all pertussis cases, and the main clinical symptoms included spasmodic cough (97 cases, 52.15%), post-tussive vomiting (82 cases, 44.09%) and aggravated cough at night (77 cases, 41.40%). Routine blood tests measured 119 cases with abnormal white blood cell counts (63.98%), 137 cases with abnormal lymphocyte counts (73.66%), 39 cases with abnormal neutrophil counts (20.97%), 21 cases with abnormal platelet counts (11.29%) and 111 cases with abnormal hemoglobin concentrations (59.68%). There were 55 cases that were unvaccinated (29.57%), 23 cases that were not fully vaccinated (12.37%), and 108 cases that were fully vaccinated (58.06%). There were significant differences among pertussis cases with different doses of vaccination in terms of age, incidence of post-tussive vomiting, percentage of abnormal platelet counts and percentage of hemoglobin concentrations (all P<0.05). Conclusions The majority of pertussis cases are preschool and diaspora children in Yiwu City from November 1, 2020 to August 31, 2022, and the clinical symptoms mainly include spasmodic cough, post-tussive vomiting and aggravated cough at night, with atypical symptoms. The capability for differential diagnosis of pertussis is required to be improved in medical institutions.

Objective:To explore the effects of the compound ICG-001 on autism-like behaviors and the morphological development of dendritic spines in hippocampal pyramidal neurons of rats.Methods:Healthy Wistar rats were mated.The offspring were divided into the saline-treated group, ICG-001 control group, Sodium valproate (VPA) group and ICG-001 treatment group by using the random number table method.Each group had 12 rats.Social interaction, repetitive, compulsive and anxiety-like behaviors in rodents were assessed by three-chambered social approach, marble burying, open-field and elevated plus maze tests.The number of neuronal nuclei (NeuN)-positive neurons in the hippocampal CA1 region was calculated by the immunofluorescence method.Golgi staining was carried out to detect the density and morphological changes of dendritic spines in hippocampal pyramidal neurons of rats.The expression of phosphorylated LIM kinase 1(LIMK1), phosphorylated actin binding protein(Cofilin), fibros actin (F-actin) and developmentally-regulated brain protein A (Drebrin A) was examined by Western blot.The univariate analysis was made to examine whether the difference was statistically significant, and the data between groups were compared by the Tukey method. Results:(1) In the three-chambered social approach test, the rats in the saline-treated group, ICG-001 control group, VPA group and ICG-001 treatment group spent (219.42±5.38) s, (218.67±10.12) s, (126.58±5.02) s, and (218.58±6.63) s in the chamber, respectively.The corresponding preference score of the said 4 groups were 0.43±0.05, 0.43±0.04, 0.22±0.01 and 0.42±0.04, respectively.Compared with the VPA group, the ICG-001 treatment group spent longer time in the chamber and had a higher preference score (all P<0.05). (2) In the marble burying experiment, the number of marbles buried in said 4 groups were 9.13±0.52, 9.08±0.64, 15.13±0.82 and 9.42±0.86, respectively.ICG-001-treated rats buried markedly less marbles than VPA-exposed rats ( P<0.05). (3) In the open-field test, the rats in the said 4 groups spent (82.33±1.83) s, (81.32±4.19) s, (45.51±3.02) s and (81.44±3.19) s in the center area, respectively.Administration of ICG-001 significantly increased the time that VPA-exposed rats spent in the center area ( P<0.05). (4)In the elevated plus maze trial, the rats in the said 4 groups spent (107.75±7.23) s, (106.08±7.50) s, (63.42±1.91) s and (106.67±7.07) s in open arms, respectively.ICG-001 treatment notably increased the time that VPA-exposed rats spent in open arms ( P<0.05). (5) Immunofluorescence analysis results revealed that the number of NeuN-positive cells in the hippocampal CA1 region of said 4 groups was (41.83±1.17)×10 4/μm 2, (41.00±0.77)×10 4/μm 2, (27.17±0.95)×10 4/μm 2 and (40.00±0.90)×10 4/μm 2, respectively.ICG-001 treatment normalized the alteration in the number of NeuN-containing neurons in VPA-exposed rats ( P<0.05). (6) Golgi staining showed that the density of dendritic spines in hippocampal CA1 pyramidal neurons of said 4 groups was (0.74±0.04)/μm, (0.73±0.03)/μm, (0.49±0.03)/μm and (0.70±0.02) /μm, respectively.Of all types of dendritic spines, mushroom spines accounted for (0.49±0.02)%, (0.49±0.02)%, (0.33±0.02)% and (0.43±0.02) % in said 4 groups.Thin spines accounted for (0.27±0.02)%, (0.26±0.02)%, (0.34±0.01)% and (0.26±0.01) % in said 4 groups, respectively.Compared with the VPA group, the ICG-001 treatment group showed a significant increase in the density of dendritic spines in hippocampal CA1 pyramidal neurons ( P<0.05). After ICG-001 treatment, the number of mushroom spines greatly increased and the number of thin spines sharply decreased in VPA-exposed rats (all P<0.05). (7) According to Western blot test results, the phosphorylated LIMK1/LIMK1 ratio of the hippocampus in said 4 groups were 100.33±2.30, 99.34±2.28, 57.76±4.10 and 99.13±1.90, respectively.The phosphorylated Cofilin /Cofilin ratio were 100.18±2.43, 100.18±1.70, 57.12±1.88 and 99.53±1.69, respectively.The F-actin/globular actin(G-actin) ratio were 100.07±0.86, 99.99±1.72, 51.19±1.23 and 99.28±3.17, respectively.The expression level of Drebrin A were 100.79±1.19, 100.12±2.04, 52.86±3.26 and 99.97±2.44, respectively.Administration of ICG-001 effectively prevented the decrease of phosphorylated LIMK1, phosphorylated Cofilin, F-actin and Drebrin A in the hippocampus of VPA-exposed rats (all P<0.05). Conclusions:ICG-001 regulates the LIMK1/Cofilin signaling pathway, promotes the generation of F-actin, increases the expression of Drebrin A, and thereby alleviates autistic-associated symptoms.

Objective:To retrospectively analyze the clinical data of Christianson syndrome caused by SLC9A6 gene mutation and related literatures.Methods:The clinical data of one Christianson syndrome patient caused by SLC9A6 gene variation in Children′s Hospital of Zhengzhou University were collected, meanwhile the relevant literature was reviewed. The examination of video electroencephalogram, auditory brainstem response, and cranial magnetic resonance imaging (MRI) was performed. Whole exon sequencing and mitochondrial gene detection were performed for 3 persons in the family, and the suspected mutation sites were verified by Sanger sequencing.Results:A boy, 7 years old, presented with epilepsy, language retardation and mental retardation. Now he can only say overlapping words, execute simple instructions, denying family history of genetic disease and genetic metabolic disease. The patient′s uncle had the history of febrile convulsions in childhood. At present, speech and intelligence are impaired, and the left limb movement is slightly limited. The patient′s mother was mildly retarded, without epilepsy. The video- electroencephalogram of the patient was shown below (April 2021): abnormal electroencephalogram; background activity was slightly slow; the bilateral frontotemporal region was dominated by multi-focal spiky wave, spiky slow wave and slow wave in each waking and sleeping stage, which can be generalized and extensive; in the sleeping stage, the discharge index in non-rapid eye movement stage was about 75%. The auditory brainstem response was shown below (October 2021): the left 70 dB Ⅰwave latency was prolonged; the Ⅰwave Ⅴ wave shape was poor; the threshold was 20 dB (the high frequency threshold was normal); the right 70 dB Ⅰwave latency was prolonged; the wave form was poor; the amplitude was lower than that of the contralateral side; Ⅲ wave Ⅴ wave shape was poor; the threshold was 30 dB (the high frequency threshold slightly increased). Brain MRI thin-section scan was shown below (January 2021): subarachnoid space of bilateral temporal poles widened, and no obvious abnormal signal was found in brain parenchyma; sinusitis. Whole exome sequencing of 3 persons in the family indicated that the proband had a hemizygous variant c.616C>T (p.R206 *) in the SLC9A6 gene. Using the SLC9A6 gene and Christianson syndrome as the key words, 94 foreign literatures from January 1989 to January 2022 were researched. Totally, 81 Christianson syndrome patients caused by SLC9A6 gene mutation were reported. The age of onset ranged from neonatal period to adulthood, and the clinical manifestations were heterogeneous. The symptoms of male patients mainly included epilepsy, severe cognitive impairment, ataxia, cerebellar atrophy, and psychomotor retardation. Conclusions:The hemizygous variant of SLC9A6 gene (c.616C>T) is the etiology of this patient. The possibility of Christianson syndrome shall be considered for recurrent epilepsy with poor efficacy of antiepileptic drugs, status epilepticus during slow-wave sleep, and delayed development of motor intelligence. Genetic testing is helpful for definite diagnosis and treatment.

Scientific and reasonable management methods of research expenditure can promote the standardized and orderly development of research work and improve the fund use efficiency. A hospital analyzed the main problems in the management of such expenditure, and began to practice such management based on problems since 2019. By improving the internal control mechanism in terms of the system and process, the hospital took multiple measures to simplify the reimbursement formalities of researchers, dynamically manage the whole process of scientific research projects, and adopted the fund pool management method to allocate hospital′s supporting funds in batches. These measures effectively resolved the main problems and raised the efficiency of fund use.