Disproportion of Corpus Callosum in Fetuses With Malformations of Cortical Development.

OBJECTIVE: To evaluate corpus callosum (CC) size in fetuses with malformations of cortical development (MCD) and to explore the diagnostic value of three CC length (CCL) ratios in identifying cortical abnormalities. METHODS: This is a single-center retrospective study in singleton fetuses at 20-37 weeks of gestation between April 2017 and August 2022. The midsagittal plane of the fetal brain was obtained and evaluated for the following variables: length, height, area of the corpus callosum, and relevant markers, including the ratios of corpus callosum length to internal cranial occipitofrontal dimension (CCL/ICOFD), corpus callosum length to femur length (CCL/FL), and corpus callosum length to cerebellar vermian diameter (CCL/VD). Intra-class correlation coefficient (ICC) was used to evaluate measurement consistency. The accuracy of biometric measurements in prediction of MCD was assessed using the area under the receiver-operating-characteristics curves (AUC). RESULTS: Fetuses with MCD had a significantly decreased CCL, height (genu and splenium), and area as compared with those of normal fetuses (P < .05), but there was no significant difference in body height (P = .326). The CCL/ICOFD, CCL/FL, and CCL/VD ratios were significantly decreased in fetuses with MCD when compared with controls (P < .05). The CCL/ICOFD ratio offered the highest predictive accuracy for MCD, yielding an AUC of 0.856 (95% CI: 0.774-0.938, P < .001), followed by CCL/FL ratio (AUC, 0.780 (95% CI: 0.657-0.904), P < .001), CCL/VD ratio (AUC, 0.677 (95% CI: 0.559-0.795), P < .01). CONCLUSION: The corpus callosum biometric parameters in fetuses with MCD are reduced. The CCL/ICOFD ratio derived from sonographic measurements is considered a promising tool for the prenatal detection of cortical malformations. External validation of these findings and prospective studies are warranted.

[Progress of gene therapy for hemophilia].

Hemophilia is a hereditary hemorrhagic disease induced by synthesis reducing of clotting factors or functional defect because of genetic mutations, Its treatment methods include traditional replacement therapy and new types of gene therapy. Replacement therapy is to reduce the bleeding complication and prevent the loss of function through the infusion exogenous recombinant coagulation factor, and gene therapy is to import the gene that exogenous code clotting factor into the patients' body by gene transfer technology, and express the treatment level of clotting factors to achieve the purpose of the permanent cure hemophilia. The various factors which affecting effects of the hemophilia's gene therapy include carrier factors, target cell factors, the timing of treatment, immune response caused by carrier. This review summarizes briefly the research progress of the factors affecting the gene therapy for hemophilia.

[The RHD zygosity in Dong ethnic population in the southeast area of Guizhou province].

OBJECTIVE: To investigate the RHD zygosity distribution and the genetic characteristics of RHD gene in the Dong ethnic population in southeast area of Guizhou province. METHODS: Based on the characteristics of Chinese RHD and the RHD specific deletion, two pairs of primers specific for hybrid Rhesus box and exon 1 of RHD respectively, were designed, combined with a pair of internal control primers. Polymerase chain reaction was performed to genotype the samples. RESULTS: In the 292 RhD positive samples, 58 (19.86%) were RHD+/RHD- heterozygotes, and the others (80.14%) were RHD+/RHD+ homozygotes. In the 9 D negative samples, 5 were RHD+/RHD- heterozygotes (2 weak D, 3 Del), 3 were RHD+/RHD+ homozygotes (1weak D, 2 Del), and 1 was RHD-/RHD- homozygote. CONCLUSION: RHD+/RHD- heterozygosity is higher (19.86%) in D positive individuals of Dong ethnic group in Guizhou province than that in other areas; RHD gene heterozygosity is also high in the D negative individuals in this ethnic group.