PubMed · 13314128
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H BERGQUIST. 1956-03-15. [Neuromeries].. https://pubmed.ncbi.nlm.nih.gov/13314128/
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PURPOSE: To evaluate with respect to gestational age (GA) the effect of magnetic resonance (MR) imaging on changes in diagnosis, patient counseling, and case management regarding fetuses suspected of having central nervous system (CNS) anomalies. MATERIALS AND METHODS: The authors compared images from 242 ultrasonographic (US) studies and 242 MR imaging studies of the CNS in 214 fetuses. Reference standards of postnatal physical examination, imaging, surgical, and autopsy findings were available in 171 (79.9%) fetuses. Referring physicians were surveyed on how MR imaging findings changed patient counseling or case management. Outcomes were compared with respect to GA. Statistical tests used were the Fisher exact test, Student t test, and analysis of variance. RESULTS: Confirmatory US findings were normal in 69 fetuses. MR imaging findings changed diagnosis in 46 of 145 (31.7%) fetuses with abnormal US findings. The mean GA of 72 of 145 fetuses with changes in maternal counseling (25.9 weeks) was significantly greater than that in 73 of 145 fetuses without changes in maternal counseling (22.6 weeks, P <.01). The mean GA of the 46 fetuses with changes in diagnosis (26.3 weeks) was significantly greater than that of the 99 fetuses with no major change in diagnosis (23.3 weeks, P <.01). There were 27 of 145 changes in case management, with no significant difference in mean GA of fetuses with and those without changes in case management. In fetuses with abnormal US findings, MR images were used to decide to terminate the pregnancy (n = 13; mean GA, 20.1 weeks), continue the pregnancy (n = 4; mean GA, 19.2 weeks), direct the mode and/or location of delivery (n = 5; mean GA, 30.5 weeks), and direct perinatal care (n = 5; mean GA, 30.2 weeks). CONCLUSION: When a CNS anomaly is detected or suspected at US, MR imaging may demonstrate additional findings that can alter diagnosis and case management. Changes in management are GA dependent.
Thrombopoietin gene expression in the human adult central nervous system (CNS) appears to be locally restricted. The aim of this study was to identify areas of thrombopoietin expression in the developing human CNS, and to compare the thrombopoietin mRNA content in the CNS to that in liver and kidneys as major sites of thrombopoietin production. Thrombopoietin protein concentrations in the cerebrospinal fluid (CSF) were measured by ELISA. In 14 fetuses and neonates with perinatal death, thrombopoietin mRNA expression was measured by competitive RT-PCR. Thrombopoietin mRNA was expressed in 29 of 32 specimens taken from the CNS. The following ranking of the intensity of expression in the CNS was possible: Spinal cord=cerebellum=cortex>>pituitary gland>>>brain stem=corpora amygdala=hippocampus. Whereas in the latter three tissues only trace amounts of thrombopoietin transcripts were detectable, thrombopoietin mRNA levels in the spinal cord were comparable to levels in liver and kidney. Thrombopoietin protein concentrations in CSF ranged between 41 and 75 pg/ml. In the developing human CNS, the thrombopoietin gene is abundantly expressed. Considering that thrombopoietin contains a neurotrophic sequence, it may well play a role in neuronal cell biology.
We report on a 12-year-old boy who presented with delayed development and CNS dysmyelination. Genetic studies showed a normal 46,XY karyotype by routine cytogenetic analysis, and 46,XY.ish del(18)(q23)(D18Z1+, MBP-) by FISH using a locus-specific probe for the MBP gene (18q23). Though the patient appeared to have normal chromosome 18s by repeated high resolution banding analysis, his clinical features were suggestive of a deletion of 18q. These included hearing loss secondary to stenosis of the external auditory canals, abnormal facial features, and foot deformities. FISH studies with genomic probes from 18q22.3 to 18qter confirmed a cryptic deletion which encompassed the MBP gene. In an attempt to further characterize the deletion, whole genome screening was conducted using array based comparative genomic hybridization (array CGH) analysis. The array CGH data not only confirmed a cryptic deletion in the 18q22.3 to 18qter region of approximately 7 Mb, it also showed a previously undetected 3.7 Mb gain of 4q material. FISH studies demonstrated that the gained 4q material was translocated distal to the 18qter deletion breakpoint. The 18q deletion contains, in addition to MBP, other known genes including CYB5, ZNF236, GALR1, and NFATC1, while the gained 4q material includes the genes FACL1 and 2, KLKB1, F11 and MTNR1A. The use of these combined methodologies has resulted in the first reported case in which array CGH has been used to characterize a congenital chromosomal abnormality, highlighting the need for innovative molecular cytogenetic techniques in the diagnosis of patients with idiopathic neurological abnormalities.