Objective To explore the effects of seven-step complex decongestion therapy (CDT) on post-operative upper limb lymphede-ma of breast cancer. Methods From August, 2015 to September, 2016, 71 patients with upper limb lymphedema after breast cancer surgery accepted CDT for 20 days, including skin care, opening of lymphatic pathway, relief of scar tissue, manual lymphatic drainage, bandage compression, air pressure wave therapy and functional exercise. The circumference of eight sites of both limbs was measured and the differ-ences were calculated before treatment, and one, five, ten, fifteen and twenty days of the treatment. Results The differences of circumfer-ence increased one to 15 days of the treatment (Z>2.03, P<0.05), and decreased 20 days of the treatment (Z=3.01, P<0.01). Conclusion CDT is effective on lymphedema after breast cancer surgery for 20 days of a course, but may worsen in the first 15 days, which may be relat-ed to acute stress response or redistribution of lymph.

Objective To investigate the incidence of healthcare-associated infection (HAI)in patients in a respiratory in-tensive care unit (RICU)of a teaching hospital,and provide reference for HAI prevention and control.Methods All pa-tients admitted to this RICU from January to December 2014 were surveyed with prospective targeted monitoring method, surveyed data were analyzed statistically.Results A total of 561 patients were surveyed,43 patients developed 44 times HAI,HAI rate and HAI case rate were 7.66% and 7.84% respectively,incidence of HAI and adjusted incidence of HAI per 1 000 patient-days were 6.26‰ and 1.79‰ respectively.The main infection site was urinary tract (45.46%,n=20). Incidence of ventilator-associated pneumonia (VAP ),catheter-related bloodstream infection (CRBSI),and catheter-associat-ed urinary tract infection (CAUTI)per 1 000 catheter-days were 2.73‰(n=13),1.57‰(n=2),and 3.78‰(n=18)re-spectively.Incidence of HAI per 1 000 patient-days between the first and second half year of 2014 was significantly differ-ent(4.59‰ vs 7.89‰;u=-1.75,P =0.04).A total of 47 pathogenic strains were isolated,the main pathogens were gram-negative bacteria(n=26,55.32%).Conclusion The major HAI in RICU is device-associated infection,it is necessary to strengthen the management of invasive procedures;targeted monitoring can find the weak links of infection control prac-tice and helpful for taking effective prevention and control measures to reduce the incidence of HAI in ICU.

In this study, the mechanism by which Ad-p27mt inhibits the growth, invasion and metastasis of transplanted liver tumor was studied by examining the effects of Ad-27mt gene transfer on the expression of Bax, Bcl-2, VEGF and MMP-9 in the transplanted liver tumors in nude mice. The model of transplanted hepatic tumor was established in nude mice. The mice were then divided into three groups, which were injected with PBS, Ad-LacZ and Ad-p27mt and the growth of the transplanted liver tumor was observed. The expressions of P27, Bax and Bcl-2 proteins were detected by Western blotting and the expressions of VEGF and MMP-9 were immunohistochemically determined. Our result showed that the tumor size, expressions of Bax, Bcl-2 proteins, VEGF and MMP-9 were all lower than those in PBS and Ad-LacZ groups and the differences were statistically significant (P<0.05). Our study suggested that Ad-p27mt could inhibit the growth, invasion and metastasis of hepatic cancer by lowering the expressions of VEGF and MMP-9.

Objective:To analyze the characteristics of clinical manifestation, auxiliary examination and gene mutation of 3-hydroxy-isobutyryl-coenzyme A hydrolase (HIBCH) deficiency to better understand this disease.Methods:The clinical manifestations and genetic results of a patient with HIBCH deficiency were analyzed. The clinical features and genetic characteristics of HIBCH deficiency were summarized based on the literature review.Results:The proband, female, one year and four months old, was admitted to Children′s Hospital Affiliated to Zhengzhou University for “vomiting and diarrhea for 15 days, dyspnea and intermittent convulsions for 13 days after digestive tract infection”. The intelligence was normal, however, the motor development was slightly delayed before onset. Physical examination showed light coma, poor response and insensitivity to light. She also had shortness of breath, weak positive three concave signs and coarse breath sound in both lungs with sputum purrs. In addition, the muscle tension of extremities was increased. Bilateral Brudzinski′s sign, Babinski′s sign and Kernig′s sign were negative. Serum hydroxybutyryl carnitine (C4OH) was increased. Cranial magnetic resonance imaging (MRI) showed atrophy in bilateral cerebral hemispheres and abnormal symmetry signals in bilateral globus pallidus and cerebral peduncle. Novel compound heterozygous variants of HIBCH, c.489T>A (p. C163*) and c.740A>G (p. Y247C), were found in the patient, which respectively inherited from her healthy parents. Her symptoms were relieved after“cocktail”therapy and symptomatic treatment. Literature related to HIBCH deficiency published all around the world was reviewed. As a result, 17 articles, including 24 cases, had been reported. The majority of patients presented with poor feeding, dystonia and progressive motor developmental delay in early infancy. Cranial MRI showed lesions in bilateral basal ganglia. Serum C4OH concentration was elevated. And compound heterozygous or homozygous variants of HIBCH gene were found in patients with HIBCH deficiency.Conclusions:The detection of serum amino acids and acylcarnitine profiles on HIBCH deficiency was relatively specific and it was helpful to make a clear diagnosis by combining with cranial MRI and genetic tests. In this study, a case of HIBCH deficiency was confirmed, which expanded the mutation spectrum of HIBCH gene. Meanwhile, summarizing the clinical and genetic characteristics of cases reported improved understanding of HIBCH deficiency.

Objective To learn the clinical manifestations and pathogenic situation of hand foot and mouth disease (HFMD) in Changchun children's hospital from 2009 to 2010.Methods We collected the faeces specimen and oropharyngeal swabs of 1 862 children patients who consulted in Changchun children's hospital from May 2009 to Nov 2010.The enterovirus 71 ( EV71 ) and Coxsackie virus A16 (CoxA16) of 1 514 faeces specimens were amplified with RT-PCR,and 530 oropharyngeal swabs' virus were isolated with rhabdomyosarcoma cell.Results The total HFMD patients were 1 175 in 2010,687 in 2009.The rate of serious patients was 6.26％ (43/687) in 2009,and 16.51％ ( 194/1 175 ) in 2010.The season of peak incidence in 2009 was June,and in 2010 were June,July and August.The gender distribution was 1 241 males and 621females.The average age of HFMD patients was ( 28.32 ± 15.22 ) months.And the distribution in city and countryside was 1:1.05.Total of 1 862 cases ( 100％ ) had rash,55.69％ ( 1 037/1 862) had fever,6.07％(113/1 862) had neurologic symptom and 1.41％ (26/1 862) had vomiting when the patients admitted in our hospital.And there were 547 cases ( 29.41％ ) emerging myocardium injury,548 cases (29.43％ ) emerging neurologic complications and 82 cases (4.39％ ) emerging respiratory complications during treatment.There were 166 positive with positive rate 31.32％ in virus isolation.The positive rate of EV71 and CoxA16 were 9.62％ and 10.57 in 2009,and 32.52％ and 39.53％ in 2010.Conclusion There were more HFMD patients in 2010 than 2009,and the proportion of serious patients was increased too.In summer and autumn,we should pay more attention to HFMD for fever children.HFMD could damage digestive system,respiratory system,circulatory system and nervous system.The nervous system of serious patients is more likely to be damaged.The pathogens of HFMD are diversity,but mainly are EV71 and CoxA16,and the pathogen of serious patients is mostly EV71.

In this study, the mechanism by which Ad-p27mt inhibits the growth, invasion and metastasis of transplanted liver tumor was studied by examining the effects of Ad-27mt gene transfer on the expression of Bax, Bcl-2, VEGF and MMP-9 in the transplanted liver tumors in nude mice. The model of transplanted hepatic tumor was established in nude mice. The mice were then divided into three groups, which were injected with PBS, Ad-LacZ and Ad-p27mt and the growth of the transplanted liver tumor was observed. The expressions of P27, Bax and Bcl-2 proteins were detected by Western blotting and the expressions of VEGF and MMP-9 were immunohistochemically determined.Our result showed that the tumor size, expressions of Bax, Bcl-2 proteins, VEGF and MMP-9 were all lower than those in PBS and Ad-LacZ groups and the differences were statistically significant (P＜0.05). Our study suggested that Ad-p27mt could inhibit the growth, invasion and metastasis of hepatic cancer by lowering the expressions of VEGF and MMP-9.

OBJECTIVE: To assess the value of detecting the rearrangement of mixed lineage leukemia (MLL) gene in children with acute mononuclear leukemia (AML). METHODS: Dual-color fluorescence in situ hybridization (FISH) probe was used to detect MLL gene rearrangement in 68 children with AML by interphase FISH. The results were compared with that of conventional G banding chromosomal analysis. RESULTS: Among the 68 children, 28 were detected by FISH with positive hybridization signals, with a detection rate for MLL gene rearrangement being 41.2%. Twelve (17.6%) reciprocal translocations and interruption of 11q23 were detected by G banding analysis. The difference in the detection rates between the two methods was statistically significant (P< 0.05). CONCLUSION The sensitivity of FISH assay for MLL gene rearrangement was significantly higher than that of G banding chromosomal karyotyping. Combined use of both methods for children with AML can improve the detection rate of MLL gene rearrangements and provide crucial clues for clinical diagnosis, treatment and prognosis.
Child ; Chromosomes, Human, Pair 11 ; Gene Rearrangement ; Histone-Lysine N-Methyltransferase ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Leukemia, Monocytic, Acute ; genetics ; Myeloid-Lymphoid Leukemia Protein ; genetics ; Translocation, Genetic

OBJECTIVE: To retrospectively analyze sex chromosomal abnormalities and clinical manifestations of children with disorders of sex development (DSD). METHODS: A total of 14 857 children with clinical features of DSD including short stature, cryptorchidism, hypospadia, buried penis and developmental delay were recruited from Zhengzhou Children's Hospital from January 2013 to March 2022. Fluorescence in situ hybridization (FISH) and chromosomal karyotyping were carried out for such children. RESULTS: In total 423 children were found to harbor sex chromosome abnormalities, which has yielded a detection rate of 2.85%. There were 327 cases (77.30%) with Turner syndrome and a 45,X karyotype or its mosaicism. Among these, 325 were females with short stature as the main clinical manifestation, 2 were males with short stature, cryptorchidism and hypospadia as the main manifestations. Sixty-two children (14.66%) had a 47,XXY karyotype or its mosaicism, and showed characteristics of Klinefelter syndrome (KS) including cryptorchidism, buried penis and hypospadia. Nineteen cases (4.49%) had sex chromosome mosaicisms (XO/XY), which included 11 females with short stature, 8 males with hypospadia, and 6 cases with cryptorchidism, buried penis, testicular torsion and hypospadia. The remainder 15 cases (3.55%) included 9 children with a XYY karyotype or mosaicisms, with main clinical manifestations including cryptorchidisms and hypospadia, 4 children with a 47,XXX karyotype and clinical manifestations including short stature and labial adhesion, 1 child with a 46,XX/46,XY karyotype and clinical manifestations including micropenis, hypospadia, syndactyly and polydactyly, and 1 case with XXXX syndrome and clinical manifestations including growth retardation. CONCLUSION Among children with DSD due to sex chromosomal abnormalities, sex chromosome characteristics consistent with Turner syndrome was most common, among which mosaicism (XO/XX) was the commonest. In terms of clinical manifestations, the females mainly featured short stature, while males mainly featured external genital abnormalities. Early diagnosis and treatment are particularly important for improving the quality of life in such children.
Humans ; Male ; Female ; Turner Syndrome/genetics* ; In Situ Hybridization, Fluorescence ; Cryptorchidism ; Hypospadias ; Retrospective Studies ; Quality of Life ; Sex Chromosome Aberrations ; Karyotyping ; Mosaicism ; Disorders of Sex Development/genetics*

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