暂无摘要。

This study aimed to ascertain the conus medullaris position by counting the number of ossification centers in the vertebral bodies below the conus medullaris endpoint (N) and assess its utility in screening for closed spinal dysraphism and tethered cord syndrome.
A total of 900 normal fetuses and 146 fetuses with closed spinal dysraphism or tethered cord syndrome were included in this study. The N values were tallied and compared along the spinal longitudinal plane. The receiver operating characteristic curve was utilized, and the cut-off value of N was analyzed.
The counting of N was successfully performed in 856 normal and 146 abnormal fetuses. In the normal group, an increase in N with gestational age was observed. Specifically, in the subgroup of 17-20 wk fetuses, N was ≥6 in 117 out of 131 cases. This figure increased to 211 out of 213 in 21-24 wk and 512 out of 512 in 25-41 wk, respectively. Cases with N ≥7 accounted for 715 out of 856 fetuses in the 17-41 wk range. In the abnormal group, N was less than 7 in 152 out of 163 fetuses, showing statistical differences between the two groups. With a cut-off value of 6.5, specificity and sensitivity reached 93.3% and 83.5%.
The counting of N was found to be a straightforward and efficient method for evaluating the position of the conus medullaris.

Open spina bifida is an uncommon malformation in animals, and there is a lack of imaging, clinical, and pathological characterisation of this condition in dogs.
Open spina bifida is rarely observed in animals due to high levels of perinatal mortality and frequent euthanasia. To the best of our knowledge, we present the first case of spina bifida in a dog was diagnosed in-utero and then followed post-partum.
A 3-year-old Poodle was presented with twin pregnancy. Radiographic and ultrasonographic findings were suggestive of vertebral malformation and open spina bifida with myelomeningocele in one foetus. Conservative treatment was given but the puppy died 3 days after birth. Thereafter, anatomical and histopathological analysis of several organs was performed to characterise the disease.
When the twins were born, one puppy had a linear dorsal midline cutaneous defect extending from the level of vertebrae L2-L6. R Radiographic examination showed several congenital vertebral malformations involving the thoracic segment, lumbar segment, sacrum and scapula. Histopathological examinations confirmed the presence of open spina bifida and identified additional abnormalities in several internal organs.
This case presents a complete characterisation of open spina bifida, before birth and after death, using imaging and histopathology techniques.

Patients with midline cutaneous anomalies of the craniospinal axis can be indicative of underlying embryonic defects, such as neural tube defects. Lack of familiarity with these midline aberrant skin findings may lead to misdiagnosis and delayed treatment. In this review, midline cutaneous anomalies of the craniospinal axis including aplasia cutis congenita, cranial and spinal dysraphism, and other developmental anomalies are explored in detail with emphasis on cutaneous clues to the diagnosis and appropriate workup.

暂无摘要。

Spina bifida is one of the neural tube defects, with a high incidence in human birth defects, which seriously affects the health and quality of life of patients. In the treatment of bone defects, the source of autologous bone is limited and will cause secondary damage to the patient. At the same time, since the bone tissue in animals needs to play a variety of biological functions, its complex structure cannot be replaced by a single material. The combination of mechanical materials and biological materials has become a common choice. Human umbilical cord mesenchymal stem cells (hUC-MSCs) have the advantages of easy access, rapid proliferation, low immunogenicity, and no ethical issues. It is often used in the clinical research of tissue regeneration and repair. Therefore, in this study, we established a spina bifida model using Japanese white rabbits. This model was used to screen the best regenerative repair products for congenital spina bifida, and to evaluate the safety of regenerative repair products. The results showed that the combination of hUC-MSCs with collagen material had better regeneration effect than collagen material alone, and had no negative impact on the health of animals. This study provides a new idea for the clinical treatment of spina bifida, and also helps to speed up the research progress of regenerative repair products.

OBJECTIVE: This study aims to follow up on low-lying conus medullaris (CM) cases and explore the correlation between the CM location and the final prognosis.  METHODS: We retrospectively collected 37 cases diagnosed with low-lying CM during pregnancy in the Peking University First Hospital from January 2019 to December 2020. The location of CM was confirmed by 3D ultrasonography, and clinical data, including postnatal outcomes, were recorded. When the conus medullaris was below L3 (excluding L3), it was diagnosed as low-lying conus medullaris, regardless of gestational age. The short-term postnatal outcome included assessment of symptoms and signs of motor and sensory neuron dysfunction.
RESULTS: The average gestational weeks of low-lying diagnosis was between 23 and 24 weeks. Among 37 cases, nine (24.3%) were complicated with spine dysraphism (3 cases of open spina bifida, 6 cases of tethered cord syndrome). Apart from 7 cases of pregnancy termination, the remaining 30 live births had a good prognosis in the short term, though 5 out of 6 cases of tethered cord syndrome underwent surgical release. The mean location of cases of open spinal dysraphism (n = 3) and those of closed dysraphism/tethered cord syndrome (n = 6) was at Lumber vertebra 5 (L5) and between L5 and Sacral vertebra 1 (S1), respectively, which showed statistical significance compared with the postnatally normal group. When we set Lumber 4.25 as the cut-off value to predict the diagnosis of spine dysraphism (mainly involving open spinal dysraphism and closed spinal dysraphism/tethered cord syndrome), the sensitivity was 66.7. At the same time, the specificity was 96%, along with the area under the curve (AUC) at 0.877.
CONCLUSIONS: The second trimester finding of low CM is associated with spinal defects, mainly open spinal dysraphism and closed spinal dysraphism/tethered cord syndrome. Careful assessment of the fetal spine should be considered especially when the location of CM is lower than L4.

Inositol is closely related to the occurrence of neural tube defects (NTDs). Inositol 1, 3, 4-trisphosphate 5/6-kinase (ITPK1) gene encoded an essential regulatory enzyme ITPK1, which is involved in inositol metabolism and has a critical role in the development of neural tube and axial mesoderm. It had been reported that some polymorphisms of critical genes in inositol pathways, including ITPK1, were associated with NTDs in Chinese pregnant women; however, the association between fetus ITPK1 polymorphisms and NTDs had not been reported. In a high incidence of NTDs region of China, a case-control study was performed to evaluate the association between fetal ITPK1 polymorphisms and NTDs. The ITPK1 polymorphisms were genotyped by iPLEX® Gold assay. Inositol levels in fetus brain tissues were analyzed. Three genetic polymorphisms of fetus ITPK1\'s, including rs3818175, rs2295394, and rs4586354, were statistically associated with spina bifida (NTD subtypes). A higher risk of spina bifida was associated with genotype GG of rs3818175, genotype CC of rs4586354, and genotype TT of rs2295394 (OR = 2.66, 95% CI [1.17-6.05], P = 0.017; OR = 2.22, 95% CI [1.02-4.80], P = 0.041; and OR = 2.33, 95% CI [1.00-5.48], P = 0.047), when compared with the other wild-type genotypes CC, TT, and CC, respectively. Decreased brain inositol level was found in NTDs fetuses, compared to normal controls. Inositol levels were found to significantly decrease with rs2295394 (CC genotype), rs4586354 (TT genotype), and rs3818175 (GC genotype) (P < 0.05). The polymorphisms of fetus ITPK1 were associated with the incidence of NTDs and might be a genetic risk factor for spina bifida.

This study focuses on spina bifida, which is a high incidence among the current clinical manifestations of human birth defects. Because in the treatment of bone defects, the source of autologous bone is limited and it is easy to cause secondary injury to the patient. At the same time, since the bone tissue in animals needs to perform a variety of biological functions, its complex structure cannot be replaced by a single material. Therefore, in this study, we used Japanese white rabbits to establish an animal model similar to human congenital spina bifida. The established animal model is used to screen the best regenerative repair products for the treatment of congenital spondylolisthesis defects, and to evaluate the safety of regenerative repair products. The results show that bone morphogenetic protein (BMP)-2 combined with collagen material has a better regeneration effect than collagen material alone, and it did not negatively affect the health of animals. This study is not only suitable for the screening of large-scale biomaterials, accelerating the research progress of regenerative repair products, but also conducive to the research on the mechanism of regeneration and repair of various materials.

Neural tube defects (NTDs) are congenital malformations resulting from abnormal embryonic development of the brain, spine, or spinal column. The genetic etiology of human NTDs remains poorly understood despite intensive investigation. CIC, homolog of the Capicua transcription repressor, has been reported to interact with ataxin-1 (ATXN1) and participate in the pathogenesis of spinocerebellar ataxia type 1. Our previous study demonstrated that CIC loss of function (LoF) variants contributed to the cerebral folate deficiency syndrome by downregulating folate receptor 1 (FOLR1) expression. Given the importance of folate transport in neural tube formation, we hypothesized that CIC variants could contribute to increased risk for NTDs by depressing embryonic folate concentrations. In this study, we examined CIC variants from whole-genome sequencing (WGS) data of 140 isolated spina bifida cases and identified eight missense variants of CIC gene. We tested the pathogenicity of the observed variants through multiple in vitro experiments. We determined that CIC variants decreased the FOLR1 protein level and planar cell polarity (PCP) pathway signaling in a human cell line (HeLa). In a murine cell line (NIH3T3), CIC loss of function variants downregulated PCP signaling. Taken together, this study provides evidence supporting CIC as a risk gene for human NTD.