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OBJECTIVE@#To explore the clinical and genetic characteristics of two children with developmental delay.@*METHODS@#Two children who had presented at the Children's Hospital Affiliated to Shandong University on August 18, 2021 were enrolled as the study subjects. Clinical and laboratory examination, chromosomal karyotyping and high-throughput sequencing were carried out for both children.@*RESULTS@#Both children had a 46,XX karyotype. High-throughput sequencing showed that they have respectively carried a c.489delG (p.Q165Rfs*14) and a c.1157_1158delAT (p.Y386Cfs*22) frameshifting variant of the CTCF gene, both had a de novo origin and were unreported previously.@*CONCLUSION@#The CTCF gene variants probably underlay the development delay in the two children. Above discovery has enriched the mutational spectrum of the CTCF gene and has important implications for revealing the genotype-phenotype correlation for similar patients.
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Criança , Humanos , Deficiências do Desenvolvimento/genética , Sequenciamento de Nucleotídeos em Larga Escala , Deficiência Intelectual/genética , Cariotipagem , MutaçãoRESUMO
OBJECTIVE@#To explore the genetic etiology of a child with lymphangiectasia and lymphedema.@*METHODS@#DNA sample of the patient was extracted and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing.@*RESULTS@#The patient was found to carry compound heterozygote variants (c.521G>A and c.472C>T) of the CCBE1 gene, which were respectively inherited from his parents.@*CONCLUSION@#The compound heterozygote variants of the CCBE1 gene probably underlie the disease in this child.
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OBJECTIVE@#To explore the genetic basis for a child with clinically suspected nephronophthisis (NPHP).@*METHODS@#Peripheral blood samples of the patient and her parents were collected subjected to high-throughput sequencing. Sanger sequencing was used to verify the gene variants.@*RESULTS@#The patient, a 7-year-old girl with congenital blindness, was admitted to a local hospital due to repeated vomiting for 7-8 days and then transferred to author's hospital due to renal failure. Her urine occult bloods (3+) and urine protein (1+) were abnormal. Her blood urea nitrogen and creatinine showed a significant progressive increase. Renal ultrasound showed a mild enlargement in bilateral renal, increased echogenicity, loss of corticomedullary differentiation, and the presence of cysts in both kidneys. No familial genetic history was found in the family of patient and the child was clinically diagnosed with nephronophthisis. The proband was found to harbor compound heterozygous variants of the CEP290 gene, namely c.2587-2A>T and c.2251C>T, which were inherited from her mother and father, respectively. Based on the ACMG guidelines, both variants were predicted to be pathogenic.@*CONCLUSION@#The patient was diagnosed with NPHP type 6 due to variants of the CEP290 gene. Above finding has provided new evidence for the genotype-phenotype correlation of this disease.
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OBJECTIVE@#To explore the genetic basis for a child featuring short stature.@*METHODS@#G-banded karyotyping, chromosomal microarray analysis (CMA) and high-throughput sequencing were carried out on peripheral blood sample from the child.@*RESULTS@#The karyotype of the child was ascertained as 45,XY,-4[3]/46,XY,r(4)(p16q35)[84]/47,XY,-4,r(4)(p16q25)*2[7]/48,XY,-4,r(4)(p16q35)*3[1]/46,XY,dic r(4;4)(p16q35;p16q35)[2]/46,XY,add(4)(p16)[3]. A 647 kb deletion at 4p16.3 was identified by CMA, which encompassed 6 OMIM genes including ZNF141, PIGG, PDE6B, ATP5I, PCGF3 and MYL5. High-throughput sequencing has identified no pathogenic/likely pathogenic variants consistent with the clinical symptoms.@*CONCLUSION@#A rare ring chromosome 4 syndrome was identified by combined chromosomal karyotyping, CMA and high-throughput sequencing. Conventional cytogenetic analysis and genetic testing in combine have enabled the diagnosis in this case.
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Objective To evaluate the bias of creatinine testing by external quality assessment (EQA) and analyze the effects of calibration on the bias of tested values using Jaffe assay.Methods The EQA data from The Clinical Laboratory Centre of Chongqing City were utilized to investigate the frozen pooled-human serum in which the value of creatinine was determined by reference method.The differences between Jaffe assay and creatine oxidase method were analyzed and the bias was evaluated.After the routine measurement systems were calibrated using the frozen pooled-human sera with double levels,the EQA samples were tested.Results The number of the laboratories using Jaffe method for creatinine measurement reduced significantly in Chongqing from 2012 to 2016.The robust average values of Jaffe assay were different from enzymatic assay significantly and the difference of the values were correlated with the concentration of creatinine (r =0.774 6).The results of the investigation using frozen pooled human serum and the trueness verification program of National Center for Clinical Laboratories indicated the positive bias of Jaffe assay was observed in low levels of creatinine with maximum of 10.39％ and 13.31％ and the bias correlated with the concentration of creatinine (r =0.988 9),by contrast the bias was low in enzymatic assay with maximum of 1.04％ and 1.49％ only.After the measurement systems were calibrated by frozen pooled human sera with double-levels,the positive bias of Jaffe assay in the low concentration of creatinine could be corrected.Conclusion There may be a positive bias of Jaffe assay for the samples with low concentration of creatinine,which could be corrected by using the calibrators with double-levels.
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<p><b>BACKGROUND</b>Erythromycin-resistant Streptococcus pneumoniae isolates that causing invasive pneumococcal diseases (IPD) in Chinese children remain uncharacterized. This study aims to identify the resistance genes associated with erythromycin resistance and to determine the genetic relationships of IPD isolates in Chinese children.</p><p><b>METHODS</b>A total of 171 S. pneumoniae strains were isolated from 11 medical centers in China from 2006 to 2008. All the isolates were characterized via serotyping and antibiotic susceptibility determination. The erythromycin-resistant isolates were further characterized via ermB and mefA gene detection, multi-locus sequence typing analysis, and pulsed-field gel electrophoresis.</p><p><b>RESULTS</b>A total of 164 (95.9%) isolates showed resistance to erythromycin, of which 162 strains with high high-level resistance (MIC ≥ 256 µg/ml). A total of 104 (63.4%) isolates carry the ermB gene alone, whereas 59 (36.0%) harbor both ermB and mefA genes. Of the 59 strains, 54 were of serotypes 19A and 19F and were identified as highly clonal and related to the Taiwan(19F)-14 clone.</p><p><b>CONCLUSIONS</b>The erythromycin resistance rate in IPD isolates is significantly high and is predominantly mediated by the ermB gene. Isolates that carry both ermB and mefA genes are predominantly of serotypes 19A and 19F.</p>
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Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Antibacterianos , Farmacologia , Farmacorresistência Bacteriana , Eletroforese em Gel de Campo Pulsado , Eritromicina , Farmacologia , Tipagem de Sequências Multilocus , Infecções Pneumocócicas , Microbiologia , Sorotipagem , Streptococcus pneumoniae , Classificação , GenéticaRESUMO
Impulse oscillometry(IOS) pulmonary function is a method with clinical value,and it plays important roles in diagnosis and evaluating treatment of asthma.IOS is sensitive and can discriminate the position of airway obstruction.IOS is easy to perform,and no special respiratory movements are required,so IOS is particularly suitable for children.IOS contributes great value on diagnosis and treatment of asthma in children,and it is a method with bright prospect.
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Objective To evaluate the value of bacteria culture and antimicrobial susceptibility test of bronchoalveolar lavage fluid(BALF) in diagnosis and treatment of refractory pneumonia in children.Methods Three hundred and sixty-eight patients who failed to a 2 weeks,routine antibiotic therapy,hospitalized in Department of Respiration,Tianjin Children's Hospital from Aug.2010 to Dec.2011,were diagnosed as refractory pneumonia.They were examined with fiberoptic bronchoscopy,BALF was collected,and bacteria culture and antimicrobial susceptibility test in BALF were performed.Results One hundred and ninety-five stains of bacteria were identified from BALF of 181 cases.There were 10 (5.1％) gram-positive stains (7 Streptococcus pneumonia and 3 Staphylococcus aureus),48 stains (24.6％) were gram-negative bacterial,and the predominant were Pseudomonas aeruginosa (23 stains,11.8 ％),followed by Serratia marcescens and Stenotrophomonas maltophilia (6 stains respectively,3.1％).There were 1 Staphylococcus aureus with positive beta-lactamases and 1 Pseudomonas fluorescens with positive AmpC enzyme.There were 1 fungi (0.5％)and 136 parasitic bacteria stains(69.7％).Gram-positive stains were universally resistant to Erythromycin,Penicillin,Cefuroxime,and susceptible to Chloramphenicol,Levofloxacin,Vancomycin.Gram-negative stains were universally resistant to Ampicillin,Cefazolin,Cefuroxime,Cefotaxime,and susceptible to Amikacin,Cefepime,Cefoperazone sulbactam,Meropenem,Imipenem,Levofloxacin,Ceftazidime,Piperacillin.There were mixed infection in most children and the predominant pathogen was Mycoplasma pneumoniae.Conclusions Bacteria culture of BALF is relatively reliable and instructively recommended for the treatment of refractory pneumonia in children,meanwhile,it can help choose the antibiotics reasonably.
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<p><b>OBJECTIVE</b>To study the significance and safety of flexible bronchoscopy and balloon dilatation in the diagnosis and treatment of respiratory diseases in children.</p><p><b>METHODS</b>A total of 438 children (236 males and 202 females) with respiratory diseases who were aged from 17 days to 15 years, were examined and/or treated by bronchoscopy (including bronchoscopic intervention) under local anesthesia.</p><p><b>RESULTS</b>Of the 438 children, 311 were diagnosed with pulmonary infection, 68 with atelectasis, 36 with recurrent cough and asthma, 6 with hemoptysis of unknown origin, 6 with bronchial foreign body, 5 with congenital bronchopulmonary dysplasia, 2 with bronchiectasis, 1 with ciliary dyskinesia syndrome, 1 with lung tumor, and 2 with congenital immunodeficiency disease. After bronchoscopic examination, local flushing or bronchoalveolar lavage, and foreign body extraction, marked response was seen in 379 cases and response was seen in 46 cases. High-pressure balloon dilatation under bronchoscopy was performed in 5 cases with inflammatory stricture and achieved satisfying clinical effect. No severe complications were found in bronchoscopy.</p><p><b>CONCLUSIONS</b>Bronchoscopy and balloon dilatation under local anesthesia is safe and effective for the diagnosis and treatment of respiratory diseases in children.</p>