Reliability and validity of prognostic indicators for Guillain-Barré syndrome in children.

AIM: To explore the clinical characteristics and prognostic predictors of Guillain-Barré syndrome (GBS) in Chinese paediatric patients. METHOD: The clinical features of children with GBS hospitalized in the Children's Hospital of Chongqing Medical University were summarized retrospectively. The correlation between the Erasmus GBS Outcome Score (EGOS)/modified Erasmus GBS Outcome Score (mEGOS), GBS disability score (GDS)/modified Rankin Scale (MRS), Erasmus GBS Respiratory Insufficiency Score (EGRIS), and mechanical ventilation were evaluated. RESULTS: One hundred forty-two patients (86 males, 56 females; median 62.50 months [interquartile range 41.00-97.50]) with classic GBS were enrolled in the study. In the present GBS cohort, 134 (94.37%) patients could walk independently (GDS ≤2) and 121 (85.21%) could manage without assistance (MRS ≤2) at 6 months. Eighteen (12.68%) patients with GBS required mechanical ventilation. The performance of mEGOS on admission, mEGOS on day 7, and EGOS-predicted GDS outcome at 4 weeks, 3 months, and 6 months in the paediatric patients with GBS admitted within 2 weeks of disease onset and that of the MRS outcome were evaluated. The EGRIS in individuals who required mechanical ventilation was significantly higher than in patients without mechanical ventilation (median = 6 vs median = 3, p < 0.001). INTERPRETATION: In Chinese paediatric patients with GBS who were admitted 2 weeks after disease onset, the mEGOS and EGOS are validated indicators for the prediction of clinical outcomes 6 months after onset. EGRIS is helpful in predicting the implementation of mechanical ventilation in the acute phase. WHAT THIS PAPER ADDS: The Erasmus Guillain-Barré syndrome (GBS) Outcome Score (EGOS) and modified EGOS are reliable prognostic predictors in paediatric patients with GBS. The Erasmus GBS Respiratory Insufficiency Score (EGRIS) is an effective predictor of mechanical ventilation in paediatric patients with GBS. An EGRIS of ≥5 indicates a high risk of mechanical ventilation in the acute phase.

Application of various genetic techniques for the diagnosis of Prader-Willi syndrome / 中华医学遗传学杂志

OBJECTIVE@#To discuss the advantages and technical limitations of various molecular genetic techniques in the diagnosis of two infants featuring all-round developmental retardation.@*METHODS@#The two patients were initially screened by using chromosomal microarray analysis (CMA). For patient 1, his parents were also subjected to CMA analysis, and the data was analyzed by using ChAS and UPD-tool software. For patient 2, methylation-specific PCR (MS-PCR) was carried out.@*RESULTS@#Patient 1 was diagnosed with maternal uniparental disomy (UPD) type Prader-Willi syndrome (PWS) by CMA and UPD-tool family analysis. His chromosomes 15 were of maternal UPD with homology/heterology. Patient 2 was diagnosed with deletion type PWS by combined CMA and MS-PCR.@*CONCLUSION@#Correct selection of laboratory methods based on the advantages and limitations of various molecular techniques can help with diagnosis of genomic imprinting disorders and enable better treatment and prognosis through early intervention.

Prenatal diagnosis and genetic analysis of a 46,XN,del(11)(q14q22) fetus / 中华医学遗传学杂志

OBJECTIVE@#To diagnose a 46,XN,del(11)(q14q22) fetus by non-invasive prenatal testing (NIPT), karyotype analysis and whole genome sequencing (WGS).@*METHODS@#Peripheral blood sample of the gravida was taken for NIPT screening. Blood samples of the gravida, her husband, and umbilical cord blood were also taken for chromosome karyotyping and whole genome sequencing (WGS).@*RESULTS@#NIPT screening indicated the fetus has carried partial deletion of chromosome 11, while no chromosomal abnormality was found with the cord blood sample due to the low resolution of G-banding analysis. WGS analysis of the cord blood indicated 46,XN,del(11q14.3q22.1). seq[GRCh37/hg19] (90 623 404-97 469 319)×1, 6.85 Mb. The karyotype of the fetus was eventually determined as 46,XN,del(11)(q14q22). Karyotyping analysis suggested that the gravida and her husband were 46,XX,del(11)(q14q22)[8]/46,XX[92] and 46,XY, respectively. However, neither of them was found to harbor the del(11)(q14q22) by WGS.@*CONCLUSION@#The abnormal karyotype of the fetus has derived from its mother's low percentage mosaicism. Combined NIPT, karyotyping analysis and WGS can detect chromosomal disorders with accuracy.

Genetic analysis of a fetus with partial 18p tetraploidy syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze a fetus with abnormal cardiac ultrasound by using various techniques and explore its genotype-phenotype correlation.</p><p><b>METHODS</b>Lymphocytes derived from umbilical cord blood sample were subjected to G-banding analysis. Short tandem repeats quantitative fluorescence PCR (STR-QF-PCR) was used for analysis of fetal DNA as an auxiliary test. Low-coverage whole genome sequencing (WGS) was used to detect chromosomal deletion/duplication which exceeded 100 kb in size.</p><p><b>RESULTS</b>The karyotype of the fetus was 47,XN,+mar. As detected by STR-QF-PCR, the copy number of GATA178F11 locus on chromosome 18 was 4, and the duplicated fragment was derived from the mother. WGS suggested that the fetus to be 46,XN,dup(18p11.21p11.32).seq [GRCh37/hg19](10 001-15 378 887)× 4, with the duplicated fragment spanning approximately 15.38 Mb.</p><p><b>CONCLUSION</b>The cardiac malformation of the fetus may be attributed to the partial duplication of chromosome 18p. Combined cytogenetic and molecular methods can facilitate prenatal detection of genetic abnormalities.</p>