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In two cases of ultrasound-diagnosed isolated ACC (4.3%), further anomalies were found on MR imaging: 1 fetus with septo-optic dysplasia and a fetus with a posterior cerebral artery territory infarction. To ascertain whether ultrasound (US) neuroradiological findings differ from Magnetic Resonance Imaging (MRI) in fetuses with suspected agenesis of the corpus callosum (ACC). [Extracted from the article]

To ascertain whether in fetuses with ultrasound (US) detected brain abnormalities, repeated I in utero i Magnetic Resonance Imaging (iuMRI) in the 3rd trimester confers additional information compared with imaging at the time of diagnosis. Demographic/US data were collected and compared with initial and repeat fetal MRI findings. [Extracted from the article]

The leukodystrophies (LD) and leukoencephalopathies (LE) are a diverse group of conditions involving the cerebral white and grey matter. There is heterogeneity in the clinical presentations, imaging features, and biochemical dysfunction. Given the number of conditions and varied imaging appearances, this topic can be difficult for non-specialist radiologists who do not routinely work in dedicated paediatric neuroradiology centres. This article will aim to provide a simplified and step-wise approach to assessing suspected LD/LE, focussing on the more common diagnoses you may encounter in the UK. Additionally, it will highlight important non-LD/LE differentials, which if considered early, may significantly alter treatment and prognosis. By the end of this review, we hope the reader will begin to develop an awareness of physiological paediatric brain development in terms of normal myelination; the ability to recognise and categorise the distribution of abnormal signal based on the established diagnostic framework outlined by Schiffmann & Van der Knapp; and be aware of potential non-LD/LE radiological mimics. [ABSTRACT FROM AUTHOR]

Background and Purpose: Duplication of the pituitary gland is a rare developmental anomaly. Multiple associated craniofacial malformations have previously been reported with the largest series to date consisting of five patients. In this multi-institutional series of ten patients, we present a detailed review of the imaging features and discuss a possible overarching pathogenesis that would explain most of the detected malformations., Materials and Methods: Inclusion criteria for this retrospective imaging review were the presence of a pituitary stalk and gland duplication and the characteristic appearance of the hypothalamic ventral midline. In addition to the clinical presentation, we recorded the imaging findings of ten patients (9 female) through onsite and online reviews. Genetic analysis was available for six patients., Results: The duplicated pituitary stalk and gland showed normal imaging appearances in all patients. Mammillary bodies were clearly identified lateral to the characteristic prominence of the hypothalamic ventral midline. Strands of tissue extending to the anterior dura ("limited ventral myeloschisis") were noted at the medulla oblongata in 10, and at the cervical spinal cord in 7 patients. The medulla oblongata showed a "butterfly" appearance on axial images in 9 patients. Ten patients had cervical segmentation anomalies ("zipper"-like), 9 anterior-posterior brainstem patterning defects (small pons, elongated medulla), and corpus callosum measurements were abnormal in all patients. Three patients each presented with diencephalic-mesencephalic junction abnormalities and 4 with an anterior mesencephalic "cap". An oropharyngeal teratoma was present in four patients. Genetics was normal in three of the six patients studied; the remainder were found to have mutations in EFNB1 and a gene variant of GIT1 , two copies of 7. And 8. exon of SMN1 gene, and 2.126 megabase duplication at bands q11.1 and q11.2 of one chromosome 15, respectively., Conclusions: Duplication of the pituitary gland presents as well-defined craniofacial and cervical spine malformation phenotype. Axial mesoderm duplication generating an excess of Sonic Hedgehog may be the primary embryological driver leading to this condition., Abbreviations: CFNS＝ Craniofrontonasal Syndrome; DPG＝ Duplication of the Pituitary Gland; SHH＝ Sonic Hedgehog., Competing Interests: The authors have no conflicts of interest to disclose regarding the subject of this article., (© 2024 by American Journal of Neuroradiology.)

During 2 massive open online course sessions in 2020-2021, learners shared lived experiences during the coronavirus disease-2019 (COVID-19) pandemic within a framework of theory-guided online discussion. We analyzed 211 COVID-19-related learner narratives from online discussion boards. Themes included sharing concerns and strategies related to patients separated from loved ones, honoring strengths in self and colleagues, valuing shared support among work colleagues, realizing the importance of self-care, voicing concerns about working conditions, and recognizing the impact of theory-guided shared reflection. Themes reflected personal knowing and attributes related to the American Association of Colleges of Nursing Essentials for Nursing Education. A Supplemental Digital Content video abstract is available at http://links.lww.com/ANS/A56 ., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Background: The use of immune checkpoint inhibitors (ICI) has transformed cancer treatment. Subsequent ICI use has become increasingly common following disease progression. We aim to evaluate the safety and tolerability of the sequential ICI treatment modality., Methods: Retrospective review of confirmed carcinoma from January 2014 to December 2018. Patients were categorized into "initial ICI arm" and "sequential ICI arm" defined as patients receiving single, dual or chemo-immunotherapy ICI following an initial ICI regimen. Primary outcome was the development of a new or recurrent immune related adverse event (irAE) during sequential therapy. Secondary outcomes were the number of cycles prior to the development of irAE and grade of irAE., Results: A total of 483 patients received ICI during the timeframe. Of those, 22 patients received sequential ICI. The diagnoses included ten lung cancer, seven melanoma, four renal cell carcinoma and one bladder cancer. 16 patients received single agent ICI following the initial ICI, three patients received dual ICI following the initial ICI, one patient received chemotherapy-immunotherapy following initial ICI, and two patients received chemo-immunotherapy after dual ICI. Four patients developed new irAE and one patient developed the same irAE on sequential treatment. A higher proportion of patients experienced grade 3 irAE in the sequential arm compared to the initial ICI arm (p = 0.03). No statistical difference was found between the development of irAE and the number of cycles prior to development of irAE in either treatment groups (p = 0.5)., Conclusion: Our data shows overall safety of sequencing ICI when close monitoring was employed., (© 2022. The Author(s).)

The lipid phosphatase gene FIG4 is responsible for Yunis-Varón syndrome and Charcot-Marie-Tooth disease Type 4J, a peripheral neuropathy. We now describe four families with FIG4 variants and prominent abnormalities of central nervous system (CNS) white matter (leukoencephalopathy), with onset in early childhood, ranging from severe hypomyelination to mild undermyelination, in addition to peripheral neuropathy. Affected individuals inherited biallelic FIG4 variants from heterozygous parents. Cultured fibroblasts exhibit enlarged vacuoles characteristic of FIG4 dysfunction. Two unrelated families segregate the same G > A variant in the +1 position of intron 21 in the homozygous state in one family and compound heterozygous in the other. This mutation in the splice donor site of exon 21 results in read-through from exon 20 into intron 20 and truncation of the final 115 C-terminal amino acids of FIG4, with retention of partial function. The observed CNS white matter disorder in these families is consistent with the myelination defects in the FIG4 null mouse and the known role of FIG4 in oligodendrocyte maturation. The families described here the expanded clinical spectrum of FIG4 deficiency to include leukoencephalopathy., (© 2019 Wiley Periodicals, Inc.)

Alexander disease (AD) is a leukodystrophy caused by heterozygous mutations in the gene encoding the glial fibrillary acidic protein (GFAP). Currently, de novo heterozygous missense mutations in the GFAP gene are identified in over 95% of patients with AD. However, patients with biopsy-proven AD have been reported in whom no GFAP mutation has been identified. We report identical twin boys presenting in infancy with seizures and developmental delay in whom MR appearances were suggestive of AD with the exception of an unusual, bilateral, arc of calcification at the frontal white-gray junction. Initial mutation screening of the GFAP gene did not identify a mutation. Whole exome sequencing in both brothers revealed a de novo heterozygous in-frame deletion of the whole of exon 5 of the GFAP gene. Mutations in the GFAP gene are thought to result in a toxic effect of mutant GFAP disrupting the formation of the normal intermediate filament network and resulting in Rosenthal fiber formation, which has hitherto not been linked to exonic scale copy number variants in GFAP . Further studies on mutation negative AD patients are warranted to determine whether a similar mechanism underlies their disease., Competing Interests: None., (Georg Thieme Verlag KG Stuttgart · New York.)

Around 30 000 people are diagnosed with epilepsy every year in the UK. While many of these respond well to antiepileptic drugs, 20-30% have seizures that are resistant to best medical treatment. For these patients it is important to identify any structural abnormalities responsible for generating seizure activity that may be amenable to surgical resection. There are many imaging modalities available to investigate epilepsy including computed tomography (CT), nuclear medicine and magnetic resonance imaging (MRI). Additional techniques are available in specific circumstances including single positron emission CT, diffusion imaging, MR spectroscopy, perfusion imaging and functional MRI. Clearly with so many options, a targeted approach is required to reach a diagnosis efficiently. In this article, each modality is discussed along with the imaging options for the common causes of focal seizure activity.

Introduction: Intrathecal chemotherapy is being explored in medulloblastoma in pre-school children as part of brain-sparing strategies and as an alternative to unacceptably neurotoxic cranio-spinal radiotherapy. The range of drugs suitable for this route of administration is restricted by the lack of research evidence of pharmacological suitability and efficacy of other drugs in medulloblastoma., Methods: Ideal clinical, biological, physicochemical and pharmaceutical properties for intrathecal administration were defined through literature review of pharmaceutical texts, Medline, Embase and consulting the manufacturers. A total of 126 chemotherapy agents were assessed against these criteria by searching the academic domain of pharmaceutical texts, computer databases and consultation with manufacturers., Results: Of the 126 candidate drugs, 99 were rejected because of documentation of their irritant nature, neurotoxicity and requirement for hepatic activation in standard pharmaceutical texts. Fifty were rejected for a single identifiable reason including, neurotoxicity (n = 24), irritant (n = 15), needs enzyme activation (n = 5), clinical evidence of intrathecal neurotoxicity (n = 4) and no evidence of tumour-specific efficacy (n = 2). Where two reasons were cited the justifications were: neurotoxic and irritant (n = 3) and needs activation and systemic administration results in equivalent concentration (n = 1). Twenty-seven drugs remained of which 12 were selected as eligible for further clinical investigation, and 15 were selected for further pre-clinical investigation., Conclusions: The pre-determined criteria were not applicable, in their entirety, in the majority of drugs, due to lack of information in the academic domain, emphasising the importance of a more open approach for sharing basic drug information. The prioritised list of 12 candidate drugs for clinical trial and 15 for pre-clinical investigation justify that a concerted research effort in this area of practice is made.

There is considerable interest in the development of symptomatic inflammatory reactions following coil embolization of cerebral aneurysms. Patients have experienced a range of adverse events, usually after treatment of moderately large aneurysms with modified "bioactive" coils. More recently, it has been recognized that adverse inflammatory reactions can be associated with the use of "nonbioactive" coils, and we present a case of symptomatic perianeurysmal edema after treatment of a small unruptured aneurysm with bare platinum coils.