Global trends in neonatal MRI brain neuroimaging research over the last decade: a bibliometric analysis.

Background: Neuroimaging plays a central role in the evaluation, treatment, and prognosis of neonates. In recent years, the exploration of the developing brain has been a major focus of research for researchers and clinicians. In this study, we conducted bibliometric and visualization analyses of the related studies in the field of neonatal magnetic resonance imaging (MRI) brain neuroimaging from the past 10 years, and summarized its research status, hotspots, and frontier development trends. Methods: The Web of Science core collection database was used as the literature source from which to retrieve the relevant papers and reviews in the field of neonatal MRI brain neuroimaging published in the Science Citation Index-Expanded from 2013 to 2022. VOSviewer and CiteSpace were used to conduct bibliometric and visualization analyses of the annual publication volume, countries, institutions, journals, authors, co-cited literature, and the overall distribution of keywords. Results: We retrieved 3,568 papers and reviews published from 2013 to 2022. The number of publications increased during this period. The United States (US) and the United Kingdom were the largest contributors, with the US receiving the highest H-index and number of citations. The institutions that published the most were the University of London and Harvard University. The research mainly focused on cerebral cortex, brain tissue, brain structure network, artificial intelligence algorithm, automatic image segmentation, and premature infants. Conclusions: This study reveals the research status and hotspots of magnetic resonance imaging in the field of neonatal brain neuroimaging in the past decade, which helps researchers to better understand the research status, hotspots, and frontier development trends.

A novel mutation in the UBAP1 gene causing hereditary spastic paraplegia: A case report and overview of the genotype-phenotype correlation.

Hereditary Spastic Paraplegia (HSP) is considered to be one of the common neurodegenerative diseases with marked genetic heterogeneity. Recently, the mutations in ubiquitin-associated protein 1 (UBAP1) have been described in patients with HSP, known as spastic paraplegias 80 (SPG80). Here, we reported a Chinese HSP family presenting a frameshift mutation in the UBAP1 gene leading to complex HSP. Their clinical features encompassed spastic paraparetic gait, exaggerated patellar tendon reflexes, bilateral Babinski signs, and hyperactive Achilles tendon reflex. The proband also had severe urinary incontinence and a dermoid cyst at the lumbar 4-5 spinal cord, which rarely occurs in HSP patients. Following whole-exome sequencing, a novel heterozygous mutation (c.437dupG, NM_016,525) was identified in the UBAP1 that segregated with the family's phenotype and resulted in truncating UBAP1 protein (p.Ser146ArgfsTer13). Moreover, we reviewed the genotypes of UBAP1 and the phenotypic variability in 90 HSP patients reported in the literature. We found that the age of onset in UBAP1-related patients was juvenile, and there were population differences in the age of onset. The main complications were lower extremity spasticity, hyperreflexia, and the Babinski sign. Exon 4 of UBAP1 was identified as a mutation hotspot region. Our study expands the knowledge of UBAP1 mutations, which will aid in HSP patient counseling. Further molecular biological research is needed to explore the genotype-phenotype correlations of UBAP1-related HSP.

MRI features and differential diagnoses of congenital vaginal atresia.

Objective: To investigate the MRI manifestations of congenital vaginal atresia, analyze its imaging features, and improve the understanding of the disease. Methods: MRI findings and clinical data of 12 patients with congenital vaginal atresia confirmed by hysteroscopy and laparoscopic surgery were retrospectively analyzed. Vaginal atresia was classified according to vaginal dysplasia in AFS female genital malformation classification system. Results: In this study, 12 cases of congenital vaginal atresia were diagnosed by combined preoperative MRI with operative diagnosis. Among them, 10 patients all had type-I congenital vaginal atresia, and their uterus and cervix were normal (1 patient had ectopic renal malformation combined with left ovarian endometriosis cyst and 1 patient with uterine empyema). The other two cases were diagnosed congenital vaginal atresia type II (1 case merged with residual uterus, 1 case with cervical dysplasia). MRI mainly manifested as dilatation and hemorrhage in the uterine cavity, cervical canal and vaginal upper segment. T1WI showed high signal, T2WI showed slightly lower and slightly higher signal. The dilated vagina was above the perineal level. Conclusion: MRI features of congenital vaginal atresia have certain characteristics. MRI cannot only accurately assess the type of vaginal dysplasia and its associated complications, but also make objective evaluation and diagnosis, so it can be used as the best effective preoperative image evaluation.