This article takes the setting of children's rehabilitation specialty in the rehabilitation therapy of Xiamen Medical College as an example, and expounds that in the process of cultivating talents in children's rehabilitation, theoretically, a training model of "2.5+0.5+1" has been built closely around the training goals of "solid foundation, wide caliber and strong skills", highlighting basic pediatric courses, core skills courses for children's rehabilitation therapy and special courses for children's rehabilitation. In practice, the training of "early clinical practice and early probation" for children's rehabilitation skills is stressed. The results show that students have greatly improved their professional knowledge and practical ability, and the effect of "early clinical practice and early probation" is obvious. Among the students who choose the direction of children's rehabilitation, 95% of the students want to engage in the career of children's rehabilitation and believe that the curriculum system will be of great help to their future employment.

Objective:To understand the pathogen infection and epidemiological characteristics of children with diarrhea in Tianjin.Methods:Stool samples from 1 466 children with diarrhea in Tianjin Children's Hospital from August 2017 to July 2018 were collected, and all samples were tested for five intestinal-related pathogens (norovirus, rotavirus, Clostridium difficile toxin, adenovirus, and astrovirus). Results:Among the 1 466 samples, 627 samples were positive for nucleic acid detection of intestinal pathogens, with a positive rate of 42.8%. The detection rate of norovirus was the highest (26.3%), followed by rotavirus (15.3%), Clostridium difficile toxin (4.6%), adenovirus (4.1%), and astrovirus (1.84%). The infection has obvious seasonality. The positive detection rates of the five pathogens were similar among children of different sexes, and only the positive detection rates of norovirus and rotavirus were statistically significant among different ages ( P<0.05). There were 110 cases of mixed infection, and the mixed infection of norovirus and rotavirus was the most common, with a total of 37 cases. Conclusions:The pathogen spectrum of infant infectious diarrhea in Tianjin is complex and diverse, and the main pathogens are norovirus and rotavirus.

Objective:To investigate the molecular epidemiologic and clinical characteristics of norovirus (NoV) in hospitalized children with acute gastroenteritis (AGE) in Tianjin to provide theoretical basis for clinical diagnosis and treatment.Methods:Fecal specimens were collected from children with AGE in Tianjin Children′s Hospital from August 2017 to July 2020. NoV was detected by real-time fluorescence reverse transcription-polymerase chain reaction (RT-PCR). Partial sequence of the capsid protein VP1 of positive samples was amplified by conventional RT-PCR. The products were sent for sequencing and genotyping based on the sequence. As the same time, the clinical symptoms were compared among children infected with different NoV genotypes.Results:Among the 6 432 specimens, 1 703 (26.5%) were positive for NoV. Sequence analysis showed that 761 identified NoV strains could be divided into 7 genotypes. Genotypes GII.4, GII.3, GII.2, GII.17, GII.1, GII.13 and GII.6 accounted for 55.5% (422/761), 36.7% (279/761), 4.9% (37/761), 0.9% (7/761), 0.8% (6/761), 0.8% (6/761) and 0.5% (4/761), respectively. All of the GII.4 belonged to GII.4 Sydney 2012. There was also a significant difference in the seasonal distribution of children infected with GII.4 and other genotypes ( χ2=103.53, P<0.001). Children infected with GII.4 NoV were more likely to have diarrhea, vomiting and dehydration ( χ2=8.42, P=0.004; χ2=20.39, P<0.001; χ2=4.99, P=0.025). Conclusions:GII.4 and GII.3 were mainly genotypes of NoV infection in Tianjin from 2017 to 2020 and genotypes were diverse. In addition, children with GII.4 NoV were more likely to suffer from diarrhea, vomiting and dehydration.

Objective:To investigate the molecular epidemiological characteristics of norovirus (NoV) in hospitalized children with sporadic acute gastroenteritis in Tianjin in 2019.Methods:Fecal specimens and clinical data were collected from 3 116 hospitalized children with sporadic acute gastroenteritis possibly caused by viral infection in Tianjin Children′ Hospital between January and December, 2019. Real-time quantitative PCR was used to detect NoV. Partial sequences of RNA-dependent RNA polymerase (RdRp) and capsid genes of NoV were amplified by RT-PCR. Sequence alignment and phylogenetic analysis were performed for further analysis.Results:Among the 3 116 specimens, 809 (26.0%) were positive for NoV. There were significant differences in NoV detection rate between different age groups ( P=0.000), and the highest NoV detection rate (31.6%) was observed in the age group of 7-12 months. Moreover, the detection rate of NoV varied with seasons ( P=0.000), and the NoV detection rate was highest in winter (39.0%). Based on the sequence analysis of RdRp and capsid genes, 286 identified NoV strains belonged to six genotypes, which were GⅡ.P12-GⅡ.3, GⅡ.P16-GⅡ.2, GⅡ.P17-GⅡ.17, GⅡ.Pe-GⅡ.2, GⅡ.Pe-GⅡ.3 and GⅡ.Pe-GⅡ.4. The predominant genotype was GⅡ.Pe-GⅡ.4 Sydney 2012 (61.2%), followed by GⅡ.P12-GⅡ.3 (33.6%, 96/286), GⅡ.Pe-GⅡ.3 (2.4%, 7/286), GⅡ.P16-GⅡ.2 (2.1%, 6/286), GⅡ.Pe-GⅡ.2 (0.3%, 1/286) and GⅡ.P17-GⅡ.17 (0.3%, 1/286). Patients carrying the NoV of GⅡ.Pe-GⅡ.4 Sydney 2012 genotype were likely to suffer from vomiting than those positive for NoV of GⅡ.P12-GⅡ.3 genotype. Conclusions:NoV was an important pathogen causing acute gastroenteritis in children. GⅡ.Pe-GⅡ.4 Sydney 2012 and GⅡ.P12-GⅡ.3 were the major genotypes of NoV in hospitalized children with sporadic acute gastroenteritis in Tianjin in 2019.

Objective:To investigate the prevalence and clinical characteristics of Mycoplasma pneumoniae( Mp) genotypes and subtypes in children in Tianjin. Methods:Children with pneumonia admitted to Tianjin Children′s Hospital from December 2017 to December 2019 were selected as the research objects. Bronchoalveolar lavage fluid was collected by fiberoptic bronchoscopy. The positive samples were detected by real-time fluorescent quantitative PCR and Mp culture. PCR-restriction fragment length polymorphism(RFLP) and multiple variable number tandem repeats were used for genotyping. Detailed clinical and laboratory data were collected for all cases. Results:The results of RFLP showed that there were 138 cases (78.9%) of typeⅠand 37 cases (21.1%) of type Ⅱ; 37 cases of type M3-5-6-2, including six subtypes B, G, M, S, V and Y; 138 cases of M4-5-7-2 were detected, including seven subtypes of E, J, P, U, X, Z and a. In M3-5-6-2 type, there were 1 case of P1-Ⅰtype (2.7%), 36 cases of P1-Ⅱtype (97.3%), 137 cases of P1-Ⅰ type (99.2%) and 1 case of P1-Ⅱ type (0.7%) in M4-5-7-2 type. There was no significant difference in genotype distribution among different age groups. There were statistical differences in the distribution of four seasons among the 13 genotypes of B, G, M, S, V, Y and E, J, P, U, X, Z, a. All Mp infected children had symptoms of fever and cough. The hospitalization time, fever duration, high fever (>39℃), cough duration, skin changes, digestive system symptoms and liver function injury rate of P1-Ⅰ/M4-5-7-2 pneumonia children were higher than those of P1-Ⅱ/M3-5-6-2 pneumonia children, but the difference was not statistically significant. The WBC count of P1-Ⅱ/M3-5-6-2 types was higher than that of typeⅠand M4-5-7-2; the LDH of P1-Ⅰ/M4-5-7-2 was higher than that of Ⅱ and M3-5-6-2, with statistical difference. There was no significant difference in the incidence of inflammatory consolidation, atelectasis, pleural thickening and pleural effusion among different genotypes. Conclusions:Mp infection in children with pneumonia in Tianjin is mainly P1-Ⅰ/ M4-5-7-2, and P1-Ⅱ is on the rise. P1-Ⅰ and M4-5-7-2 were associated with fever and severe symptoms.

Objective:To analyze the epidemiological characteristics and molecular classification of Human adenovirus (HAdV) and Human bocavirus (HBoV) infection in hospitalized children with acute respiratory infection in Tianjin Children′s Hospital.Methods:A total of 1 171 nasopharyngeal aspirates were collected from children with acute respiratory infection in Tianjin Children′s Hospital from March 2019 to February 2020. The specific primers designed by gene sequence were amplified by polymerase chain reation (PCR), and the positive amplification products were determined by sequencing. The sequences of HAdV and HBoV were compared in GenBank, molecular typed and phylogenetic tree analyzed of HAdV by MEGA7.0.26. The positive rate of HAdV and HBoV in different age groups(<6 months, 6-11 months, 12-23 months, 24-35 months, 36-47 months, ≥48 months) and seasons were compared by SPSS20.0.Results:Thirty HAdV were detected in 1 171 specimens, with a positive rate of 2.56% (30/1 171) and 84 cases with HBoV, with a positive rate of 7.17% (84/1 171).The positive detection rates of HAdV and HBoV in different age groups were 1.02% (4/392)-6.61% (8/121) and 4.09% (7/171)-11.45% (26/227), respectively. There was a significant difference in the positive detection rate of HAdV and HBoV in each age group (χ2=12.862, P=0.025; χ2=14.178, P=0.015).Winter is the peak period of HAdV infection, with a positive rate of 5.54% (15/271). The peak of HBoV infection is autumn and winter with a positive rate of 12.00% (36/300) and 12.5% (34/271), respectively, higher than that of the other two seasons (χ2=43.753, P<0.05). There was a significant difference in different season groups (χ2=13.287, P=0.004; χ2=43.753, P<0.05). The sequences of 29 adenoviruses were HAdV-3, 7 serotypes of HAdV-B subgroup and HAdV-1, 2, 5 serotypes of HAdV-C subgroup. Conclusion:HAdV and HBoV play important roles in children′s respiratory tract infections, and are closely related to factors such as the season and the age of the child. They should attract clinical attention.

Objective:To evaluate the prevalence of human rhinovirus (HRV) infection in hospitalized children in Tianjin and investigate the clinical impact of HRV infections.Methods:From July 2017 to December 2019, 2 945 nasopharyngeal secretion specimens were screened for HRV using polymerase chain reaction (PCR). VP4/VP2 sequences of HRV were further characterized. The clinical characteristics of the HRV infection were analyzed. The detection results of HRV for different groups and different months were compared using SPSS 19.0.Results:HRV-positive specimens accounted for 8.15% (240/2 945), of which 74.78% (86/115) were diagnosed with pneumonia, 40.83%(98/240) had co-infections with other common pathogens. HRV infections could be detected throughout the year with peaks in spring (11.00%, 66/660) and autumn (9.29%, 81/872). The positive rate of HRV was 4.14%(29/700) in winter. By VP4/VP2 sequence analysis, HRV-A was the most frequently detected strain(50.00%, 78/156), followed by HRV-C (41.67%, 65/156).46.15% (30/65) of HRV-C infections occurred in October and November. There were several different HRV-A types and HRV-C types. The most commonly detected HRV-A types were A12(11.54%, 9/78), A49(6.41%, 5/78), A22, A101, and A66(5.13%, 4/78), etc. The most common HRV-C types were C2(20.00%, 13/65), C22(9.23%, 6/65), C26, C43, C54 and C53(4.62%,3/65). Patients with HRV-A infections are more likely to show fever symptoms than HRV-C (χ2=5.411, P<0.05). No significant difference in other symptoms were found between the two types. Conclusions:HRV was a commonly detected virus among infants and had a clear seasonal distribution. It′s also possible for the HRV patients to have co-infections with other pathogens.HRV showed high genetic diversity.

Objective:To analyze the pathogenic bacteria and epidemiological characteristics in children with respiratory tract infection in Tianjin area.Methods:Retrospective case analysis was performed on 2 392 hospitalized children in the wards of respiratory diseases, intensive care unit and special care ward of Tianjin Children′s Hospital from June 2018 to May 2019. Thirteen pathogenic bacteria in deep sputum and bronchoalveolar lavage fluid samples were detected by loop-mediated isothermal amplification. The laboratory data and clinical characteristics of the infected children were analyzed, and the comparison between groups was performed by t test or χ 2 test. Results:Among 2 392 cases, 1 407 were males and 985 females. There was no significant difference in the detection rate between males and females (72.5% (1 020/1 407) vs.74.2% (731/985), χ 2=0.87, P=0.35). A total of 1 751 strains and 12 kinds of positive respiratory pathogens were detected, with a detection rate of 73.2%. Among them, 913 (38.2%) strains were Mycoplasma pneumoniae (MP), 514 (21.5%) were Streptococcus pneumoniae (Sp), 381 (15.9%) were Methicillin-resistant Staphylococcus aureus (MRSA) and 279 (11.7%) were Hemophilus influenzae (Hi). There was significant difference in the detection rate of pathogens among different age groups (χ2=83.67, P<0.01). The positive rate of alveolar lavage fluid group was higher than that of deep sputum fluid group [81.6% (614/752) vs. 69.3% (1 137/1 640), χ 2=39.89, P<0.01]. The length of hospital stay of children infected with different pathogens was significantly different (all P<0.01). There was significant difference in duration of fever among children infected with different pathogens (χ2=228.69,103.56, 3.96, 27.38,24.50,41.66, all P<0.05). There were 63 (7.7%) cases of atelectasis, 260 (31.9%) cases of pleurisy and 120 (14.7%) cases of pleural effusion in MP children. Children with Sma were most likely to involve the heart system (2/9), and children with Eco infection had a higher incidence of complications such as those of blood (3/19), urinary (2/19), digestive systems(4/19), systemic inflammatory response syndrome and sepsis (1/19). Conclusions:The main bacterial pathogens of respiratory tract infection in children in Tianjin were MP, Sp, MRSA and Hi. It is suggested that clinicians should not only pay attention to the respiratory symptoms of children, but also pay attention to the complications caused by bacterial pathogen infection, so as to prevent the deterioration of the disease and improve the prognosis.

Objective:To analyze the molecular epidemiological characteristics of GⅡNorovirus (NoV) infection in children in Tianjin Children′s Hospital in 2018.Methods:Single center study. From January to December 2018, a total of 2 185 stool specimens were collected from the children with acute gastroenteritis suspected caused by virus infection in Tianjin Children′s Hospital. Norovirus was detected by real-time fluorescence reverse transcription polymerase chain reaction (RT-PCR).The capsid protein VP1(VP1) region of positive samples was amplified and sequenced. The phylogenetic tree was constructed by MEGA5.05 for analyzing the results. The detection of NoV in different age groups and different months were compared by SPSS 20.0.Results:Among the 2 185 stool specimens,610 were NoV positive, the positive rate was 27.9% (610/2 185).All of the positive samples were GⅡgenogroup. Seven genotypes were found, with GⅡ.3 subtype accounting for 46.2%(151/327),GⅡ.4 subtype accounting for 40.1%(131/327),GⅡ.2 subtype accounting for 4.6%(15/327), other subtypes accounting for 9.1%(30/327).There was a significant difference in NoV detection rate among different age groups (χ 2=17.050, P=0.002). Among the positive specimens, the detection rate of less than or equal to 3 years old was the highest which is accounting for 89.2%.Also there was a significant difference in NoV detection rate among different months(χ 2=225.153, P<0.001).November and December are the most frequent months. There was significant difference between GⅡ.3 and GⅡ.4 NoV infection in children with granulocytopenia (χ 2=11.270, P=0.001) , and also in children with respiratory symptoms (χ 2=7.257, P=0.007) . Conclusions:GⅡ.3 and GⅡ.4 were the main genotypes of NoV infection in children in Tianjin in 2018. The Multiple genotypes suggests that the monitoring and prevention of NoV infection in children should continue to be strengthened in the future.

OBJECTIVE: To analyze the molecular etiology of a Chinese child affected with dihydropyrimidinase deficiency. METHODS: Genomic DNA was extracted from peripheral blood samples of the family members. Pathogenic variant was determined by whole exome sequencing and verified by Sanger sequencing. RESULTS: The child was found to harbor homozygous c.905G>A (p.Arg302Gln) variants in exon 5 of the DPYS gene, for which her parents were both heterozygous carriers. CONCLUSION The homozygous c.905G>A (p.Arg302Gln) variants of the DPYS gene probably underlies the dihydropyrimidinase deficiency in the child. Above result has enabled genetic counseling and prenatal diagnosis for this family.
Amidohydrolases/genetics* ; Asian Continental Ancestry Group/genetics* ; Child ; Exons ; Female ; Humans ; Metabolism, Inborn Errors/genetics* ; Mutation ; Pedigree