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 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 evaluate the value and efficacy of microscope-assisted minimally invasive anterior lumbar discectomy and zero-profile fusion (ALDF) for lumbar degenerative diseases.Methods:Anterior lumbar distractors were designed to maintain the distraction of intervertebral space and expose the posterior edge of the intervertebral space. From June 2018 to December 2020, 41 cases of lumbar degenerative diseases were treated with this operation, including 19 men and 22 women, aged 29-71 years old (average 42.1 years old). All patients had intractable low back pain. Imaging examination showed lumbar disc degeneration with narrow intervertebral space, including disc herniation with Modic changes in 7 cases, spinal stenosis with instability in 16 cases and spondylolisthesis in 18 cases. The involved levels included L 2,3 in 1 case, L 3,4 in 3 cases, L 2-L 4 in 1 case, L 4,5 in 17 cases and L 5S 1 in 19 cases. An incision was taken that was pararectus for L 2-L 4 and transverse for L 4-S 1, with the intervertebral disc exposed via extraperitoneal approach. The intervertebral space was released and distracted after discectomy in intervertebral space, and self-made distractors were used to maintain the space. Under microscope, the herniation, posterior annulus and osteophyte were removed for sufficient decompression, with a suitable self-anchoring cage implanted into the intervertebral space. The visual analogue score (VAS), Oswestry dysfunction index (ODI), intervertebral space height, lordosis angle and spondylolisthesis rate were evaluated. Results:Operations were performed successfully in all the patients. The operation time was 70-120 min with an average of 90 min, and the intraoperative blood loss was 15-70 ml with an average of 30 ml. No severe complication such as nerve or blood vessel injury occurred. The patients were followed up for 12 to 36 months, with an average of 18 months. At the last follow-up, VAS decreased from 6.4±2.3 to 1.1±0.9, and ODI decreased from 44.9%±16.9% to 5.8%±4.7%. Intervertebral space height recovered from 7.2±2.8 mm to 12.1±2.1 mm and lordosis angle recovered from 6.9°±4.8° to 10.1°±4.6°. X-ray showed significant recovery of intervertebral space height, lordosis angle and spondylolisthesis rate, with obvious interbody fusion and no displacement of cage. For 18 patients of spondylolisthesis, the slippage recovered from 16.6%±9.3% to 7.6%±5.3%, with an average improvement of 54.2%.Conclusion:Microscope-assisted minimally invasive ALDF can provide sufficient decompression and zero-profile fusion for lumbar degenerative diseases with satisfactory results during short-term follow-up.

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 of a Chinese patient featuring global developmental delay. METHODS: Peripheral venous blood samples from the proband and his parents and sister were taken for the extraction of DNA. Target capture and next generation sequencing was carried out to detect genetic variants associated with the disease. Suspected variant was validated by Sanger sequencing. RESULTS: Genetic testing discovered that the proband has carried hemizygous c.150G>T and c.150+1G>T variants of the KDM5C gene which are inherited from his mother. His younger sister also carried the variants. The c.150+1G>A variant was unreported previously, which has altered a splice site and was predicted to be pathogenic by bioinformatics analysis. CONCLUSION The hemizygous c.150+1G>T variant of the KDM5C gene, known to underlie X-linked Claes-Jensen type syndromic mental retardation, probably accounts for the disorder in the patient. Identification of this variant has enriched the variant spectrum of the KDM5C gene.

OBJECTIVE: To investigate the clinical and genetic features of a Chinese girl featuring mental retardation, intellectual disability, language development delay and epilepsy. METHODS: G-banded chromosomal karyotyping was carried out for the child. Genomic DNA of the patient and her parents was extracted and subjected to high-throughput sequencing. The results were analyzed with bioinformatic tools and validated by Sanger sequencing. RESULTS: The karyotype of the child was ascertained as 46,XX. Sequencing result showed that she has carried a de novo heterozygous c.1861C>T (p.R621X) variant of the SYNGAP1 gene. CONCLUSION The nonsense variant c.1861C>T (p.R621X) of the SYNGAP1 gene probably underlies the disease in this child. Above result has enabled genetic diagnosis and counseling for her family.

OBJECTIVE: To explore the genetic basis for a child suspected for hypokalemic periodic paralysis. METHODS: Clinical data of the patient was collected, and venous blood samples were taken from the patient and his parents for the extraction of genomic DNA. Next generation sequencing (NGS) with target capture was carried out to detect potential variants. Suspected variants were validated by Sanger sequencing. RESULTS: The child developed fatigue without obvious reason at the age of 15. Laboratory test revealed hypokalemia but normal serum magnesium. Genetic testing discovered that he has carried two variants in the SLC12A3 gene, namely c.179C>T and c.539C>A. The patient was diagnosed with Gitelman syndrome. CONCLUSION For children with hypokalemia, genetic testing should be considered for the differential diagnosis of Gitelman syndrome from hypokalemia due to other causes.

OBJECTIVE: To explore the genetic basis of a proband with distinctive facial features, global developmental delay, seizures and hypoplasia of corpus callosum through next generation sequencing (NGS). METHODS: Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Whole exome and flanking sequences were screened by NGS. Suspected variants were verified by Sanger sequencing. RESULTS: The proband was found to carry a heterozygous c.2824G>T (p.G942X) variant of the ZEB2 gene, which was verified by Sanger sequencing to be a de novo variant. CONCLUSION The heterozygous c.2824G>T (p.G942X) variant of the ZEB2 gene probably underlies the Mowat-Wilson syndrome in the proband.
Facies ; Genetic Variation ; Heterozygote ; Hirschsprung Disease ; genetics ; Humans ; Intellectual Disability ; genetics ; Microcephaly ; genetics ; Whole Exome Sequencing ; Zinc Finger E-box Binding Homeobox 2 ; genetics