Objective To evaluate the function of IRISiQ200 full automated urine analyzer and its clinical application of user re-classification function.Methods The reproducibility,linearity and mutual infection rate of IRISiQ200 were detected.116 fresh urine specimen were obtained from outpatient and inpatient at random.After the specimen were detected with IRISiQ200,the doubtful urine sediment images were discriminated repeatedly by user reclassification.The microscopic quantitation in uncentrifuged samples was used as reference.Results IRISiQ200 showed good reproducibility,linearity and lower mutual infection rate.The performances by using iQ-200 were: erythrocytes Y=0.596X+11.353,R2=0.834;leukocytes Y=0.468X+5.745,R2=0.708;epithelial cells Y=0.524X-2.649,R2=0.815.The performances after reclassification: erythrocytes Y=0.895X-3.328,R2=0.997;leukocytes Y=0.786X-1.880,R2=0.976;epithelial cells Y=0.911X-5.502,R2=0.992.Conclusion IRISiQ200 full automated urine analyzer shows excellent performance.There is fine correlation between iQ-200 and microscopic quantitation in uncentrifuged samples,and the urine sediment can be observed intuitively by using reclassification function.The doubtful urine sediment images can be discriminated.It can degrade the instrument error and increase the detection accuracy greatly.[Chinese Medical Equipment Journal,2008,29(2):82-83,85]

Objective: We investigated the clinical characteristics and the most important risk factors of urinary calculi in children. Methods: Using Cochrane Library, PubMed, ProQuest, ELEVIER Science Direct, Embase, Springerlink, China National Knowledge Infrastructure (CNKI), and Wanfang database, we reviewed literature on clinical characteristics of urinary calculi in children from January 2003 to September 2018, and data was analyzed using STATA 14.0. Results: Incidence of calculi in male children was 62.1% [95% CI (57.2%, 67.1%)]. 39.4% [95% CI (26.5%, 52.2%)] children with urolithiasis had a family history of positive stones, 25.3% [95% CI (19.2%, 31.3%)] had a history of urinary infection, and 16.6% [95% CI (12.3%, 20.9%)] had abnormal urinary anatomy. In addition, urinary calculi were most commonly found in the kidney [63.6%, 95% CI (49.9%, 77.3%)], followed by ureter [17.2%, 95% CI (13.4%, 21.0%)], and bladder [12.4%, 95% CI (6.9%, 18.7%)]. The single component of urinary calculi in children accounted for 58.8% [95% CI(48.7%, 68.9%)], the most common component was calcium oxalate [49.4%, 95% CI (36.7%, 62.1%)], followed by uric acid [7.9%, 95% CI (4.1%, 11.6%)]. The most common urinary metabolic disorders were hypernatremia [38.8%, 95% CI (27.9%, 49.7%)], followed by hypercalciuria [33.4%, 95% CI (27.3%, 39.4%)]. Conclusions Heredity metabolic abnormalities, urinary tract infection, and anatomical structural abnormalities are important risk factors of urinary calculi in children. Stone recurrence could be reduced and prevented by regulating metabolic disorders, managing urinary tract infection, and correcting anatomical abnormality.

OBJECTIVE: To explore the genetic basis for a child manifesting with intellectual disability, language delay and autism spectrum disorder. METHODS: Genomic DNA was extracted from peripheral blood samples of the child and his family members, and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and interpreted according to the guidelines of the American College of Medical Genetics and Genomics. RESULTS: The child was found to harbor a heterozygous c.568C>T (p.Q190X) nonsense variant of the ADNP gene, which was not detected in either parent by Sanger sequencing. CONCLUSION The clinical and genetic testing both suggested that the child has Helsmoortel-van der Aa syndrome due to ADNP gene mutation, which is extremely rare in China.
Abnormalities, Multiple/genetics* ; Autism Spectrum Disorder/genetics* ; Autistic Disorder/genetics* ; Child ; Heterozygote ; Homeodomain Proteins/genetics* ; Humans ; Intellectual Disability/genetics* ; Mutation ; Nerve Tissue Proteins/genetics* ; Rare Diseases

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.

OBJECTIVE: To explore the genetic basis for a Chinese boy featuring developmental delay and epilepsy. METHODS: Clinical data of the patient was collected. Genomic DNA of the patient and his parents was extracted and subjected to high-throughput sequencing. Pathogenicity of the variant was predicted and validated. RESULTS: Sequencing results showed that the patient has carried a de novo c.1470delA (p.V491Ffs*6) variant of the UBE3A gene, which was predicted to be pathogenic. CONCLUSION The frameshift variant c.1470delA (p.V491Ffs*6) probably underlay the disorders in this child.

OBJECTIVE: To analyze the clinical and genetic characteristics of an infant girl featuring comprehensive developmental backwardness. METHODS: The patient was subjected to clinical examination, gas chromatography mass spectrometry and next-generation sequencing (NGS). RESULTS: The child was insensitive to sound, could not turn over, raise head, laugh or recognize his mother. Laboratory tests were all normal, but metabolic analysis suggested 3-methylglutaconic aciduria due to elevated 3-methylglutaconic acid and 3-methylglutaric acid. NGS has detected two compound heterozygous CLPB variants in the child, namely c.1085G>A and c.1700A>C, which were respectively inherited from her father and mother. Bioinformatic analysis predicted both variants to be pathogenic. The patient was diagnosed with 3-methylglutaconic aciduria type VII (MGCA7). CONCLUSION The MGCA7 in the child was probably caused by CLPB gene variants. NGS has provided a powerful diagnostic tool for this rare disorder.
Endopeptidase Clp ; genetics ; Female ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Metabolism, Inborn Errors ; genetics

OBJECTIVE: To explore the genetic basis of a patient presenting with dysmorphism, intellectual disability, psychomotor delay and hypoplasia of corpus callosum by using next generation sequencing. METHODS: Genomic DNA was extracted from peripheral blood samples of the patient and his family members and subjected to exome sequencing. Suspected variants were verified with Sanger sequencing. RESULTS: The patient was found to carry a heterozygous c.1357delAinsGGA variant in exon 11 of the TCF4 gene, which was verified as de novo by Sanger sequencing. The variant may result in a truncated protein and affect its function. CONCLUSION The heterozygous c.1357delAinsGGA variant the TCF4 gene probably underlies the disease in the proband.
Facies ; Genetic Testing ; Humans ; Hyperventilation/genetics* ; Intellectual Disability/genetics* ; Male ; Transcription Factor 4/genetics*

Objective: To investigate the genetic cause for a family with multiorgan dysplasia and "molar tooth sign" on MRI image. Method: The patient, a 3 months and 21 days old boy, was clinically examined and the medical history of his family was collected. Next generation sequencing was performed to analyze his clinical and genetic causes. Result: Clinical manifestation of the child displayed multiorgan dysplasia, such as six finger deformity, short limbs, coloboma of optic disc and choroid, situs inversus.Cranial MRI showed "molar tooth sign" . The gene sequencing confirmed that the child carried a de novo deletion of c. 2843_2844 delAA in OFD1 gene. Conclusion The child has typical clinical features of Joubert syndrome, such as MRI "molar syndrome" , developmental abnormalities of ocular tissue and limb, visceral inversion, and so on.The OFD1 gene had a novel deletion mutation through gene detection. Combined clinical features with gene detection, it was clear that the child was a rare case of Joubert syndrome type 10 which was the first case of Joubert syndrome caused by OFD1 gene mutation in China.

OBJECTIVE: To explore the genetic basis for a child with developmental delay and congenital syndactyly. METHODS: G-banding chromosomal karyotyping and chromosomal microarray analysis (CMA) were performed on peripheral blood sample from the child. RESULTS: The child was ascertained as 46, XY, r(18)[52]/45,XY,?18[3]. A 18q21.32-q23 deletion was identified by CMA with a size of 19.85 Mb, which has encompassed 99 genes including CTDP1, TXNL4A, TSHZ1, PIGN, RTTN, TNFRSF11A, KDSR and CYB5A. CONCLUSION Clinical phenotype of the patient with ring chromosome 18 is associated with the size of the euchromatin loss and involved genes. As a useful complement to conventional karyotyping, CMA has provided an powerful tool for delineating complex chromosomal aberrations.
Child ; Chromosome Aberrations ; Chromosomes, Human, Pair 18 ; genetics ; Cytogenetics ; Developmental Disabilities ; genetics ; Humans ; Karyotyping ; Ring Chromosomes ; Syndactyly ; genetics

OBJECTIVE: To identify potential mutations of the CLS gene in a Chinese pedigree affected with Coffin-Lowry syndrome. METHODS: Whole exome sequencing was applied to detect potential mutation in the proband, and the result was verified by Sanger sequencing. RESULTS: The proband was found to carry a c.966_967delAA (p.Arg323Thr fs*11) deletional mutation in the RPS6KA3 gene. The same mutation was also found in his mother. CONCLUSION The c.966_967delAA (p.Arg323Thr fs*11) deletional mutation of the RPS6KA3 gene probably underlies the disorder in this pedigree.
Asian Continental Ancestry Group ; China ; Coffin-Lowry Syndrome ; genetics ; Humans ; Mutation ; Pedigree ; Ribosomal Protein S6 Kinases, 90-kDa ; genetics ; Sequence Deletion