-associated peripheral neuropathy defined by impaired binding with TUBB3.

encodes a kinesin motor protein associated with isolated congenital fibrosis of the extraocular muscles (CFEOM), which occurs when the autoinhibitory interaction between its motor and third coiled-coil domains is disrupted. In this study, we describe a female child who is heterozygous for a novel de novo missense variant in p.Leu664Pro, located in the second coiled-coil domain that was absent in her unaffected parents and in healthy population cohorts.

Increased inflammasome protein expression identified in microglia from postmortem brains with schizophrenia.

Schizophrenia (SCZ) is a complex psychiatric disorder that involves an inflammatory response thought to be characterized by microglial activation. The inflammasome complex may play critical roles in the pathomechanism of neuroinflammation but how this relates to SCZ remains unclear. In this study, we performed an immunohistochemical (IHC) analysis to compare the expression of inflammasome proteins in brain tissue from donors with SCZ (n = 16) and non-psychiatric donors (NP; n = 13) isolated from the superior frontal cortex (SFC), superior temporal cortex, and anterior cingulate cortex brain regions.

Association of region-specific hippocampal reduction of neurogranin with inflammasome proteins in brains of Alzheimer's disease.

Introduction: Neurogranin (Ng) is considered a biomarker for synaptic dysfunction in Alzheimer's disease (AD). In contrast, the inflammasome complex has been shown to exacerbate AD pathology.

Methods: We investigated the protein expression, morphological differences of Ng, and correlated Ng to hyperphosphorylated tau in the brains of 17 AD cases and 17 age- and sex-matched controls.

Identification of inflammasome signaling proteins in neurons and microglia in early and intermediate stages of Alzheimer's disease.

Alzheimer's disease (AD) is a progressive neurodegenerative disease that destroys memory and cognitive function. Inflammasome activation has been suggested to play a critical role in the neuroinflammatory response in AD progression, but the cell-type expression of inflammasome proteins in the brain has not been fully characterized. In this study, we used samples from the hippocampus formation, the subiculum, and the entorhinal cortex brain from 17 donors with low-level AD pathology and 17 intermediate AD donors to assess the expression of inflammasome proteins.

Complete Regression of a Solitary Cholangiocarcinoma Brain Metastasis Following Laser Interstitial Thermal Therapy.

Background: To our knowledge, we report the first case of a cholangiocarcinoma brain metastasis successfully treated with magnetic resonance imaging (MRI)-guided laser interstitial thermal therapy.

Case Description: In 2017, a 71-year-old man was diagnosed with unresectable intrahepatic cholangiocarcinoma. In August 2018, a brain MRI scan was performed after a transient episode of altered mental status and revealed a subcentimeter enhancing lesion in the deep white matter of the right cerebellum.

Rare Tumor-to-Tumor Metastases Involving Lung Adenocarcinoma to Petroclival Meningiomas.

Background: Lung carcinoma metastasizing to a skull base meningioma remains an extremely rare phenomenon, with only 3 studies reported. Furthermore, no documented cases have been reported in the petroclival region. Thus, we have presented the first 2 cases of tumor-to-tumor metastasis (TTM) in which a petroclival lesion, initially thought to be purely meningioma, was also found to contain metastatic lung adenocarcinoma.

Central Nervous System Aspergillosis: An Unexpected Complication following Neurosurgery.

Post-surgical aspergillosis is an uncommon complication that carries a high mortality rate in affected patients. The diagnosis is challenging given the lack of highly sensitive methods to isolate from surgical sites. Here, we present a case of post-surgical aspergillosis that occurred after the resection of acoustic neuroma in an immunocompetent patient.

Recent developments in paraneoplastic disorders of the nervous system.

Paraneoplastic disorders of the nervous system (PNDs) are rare and unique disorders, where a specific pattern of neural damage occurs as a side effect of the interaction between the neoplasm and the host immune response. Clinical recognition of PNDs may be challenging but can lead to early detection of an occult neoplasm. Their study may lead to a better understanding of nervous system autoimmunity and even to devising novel immunotherapies against certain tumor types.

Diagnosis of pseudoprogression using MRI perfusion in patients with glioblastoma multiforme may predict improved survival.

Aims: This retrospective study determined the survival of glioblastoma patients with or without pseudoprogression.

Methods: A total of 68 patients were included. Overall survival was compared between patients showing pseudoprogression (in most cases diagnosed using perfusion MRI with ferumoxytol) and in patients without pseudoprogession.

LC3 and p62 as diagnostic markers of drug-induced autophagic vacuolar cardiomyopathy: a study of 3 cases.

Autophagic vacuolar cardiomyopathy is an underrecognized, but potentially fatal, complication of treatment with chloroquine (CQ) and its derivative hydroxychloroquine (HCQ), which are used as therapy for malaria and common connective tissue disorders. Currently, the diagnosis of autophagic vacuolar cardiomyopathy is established through an endomyocardial biopsy and requires electron microscopy, which is not widely available and has a significant potential for sampling error. Recently, we have reported that immunohistochemistry for autophagic markers LC3 and p62 can replace electron microscopy in the diagnosis of HCQ-induced and colchicine-induced autophagic vacuolar skeletal myopathies.

Evidence of ambiguous differentiation and mTOR pathway dysregulation in subependymal giant cell astrocytoma.

Objective: The exact cell of origin of subependymal giant cell astrocytoma is debated but most currently consider the tumor in the astrocytic category. Mutations and subsequent biallelic inactivation of TSC1 encoding hamartin, or TSC2 encoding tuberin appear to be the underlying genetic aberrations. Inactivation leads to loss of proteins that inhibit mammalian target of rapamycin (mTOR ) disrupting tightly regulated cell functions.

Late occurrence of drop metastasis to the spine in a case of esthesioneuroblastoma.

Esthesioneuroblastoma is an aggressive neuroectodermal tumor that originates from the olfactory mucosa and often recurs locally. Distant metastasis of esthesioneuroblastoma has been described, but there are few reports of drop metastasis to the spinal cord. Here, we report a case of multiple drop metastases to the cervical, thoracic, and lumbar regions of the spinal cord that occurred 18 years after resection and radiotherapy of the original anterior cranial fossa lesion.

Temozolomide for corticotroph pituitary adenomas refractory to standard therapy.

To highlight the potential of temozolomide (TMZ) to induce rapid tumor regression in patients with aggressive corticotroph adenomas (CA) that are refractory to surgery and radiation therapy and to review use of TMZ in other pituitary tumors. We present a case of a 56-year-old male with a 3 cm CA treated with transphenoidal surgery (TSS) and conventional radiotherapy in the same year. His hypercortisolemia recurred 11 years later with rapid tumor growth (to 4.

Cavernous malformations of the optic pathway and hypothalamus: analysis of 65 cases in the literature.

Object: Cavernous malformations (CMs) of the optic pathway and hypothalamus (OPH) are extremely rare. Patients with these lesions typically present with chiasmal apoplexy, characterized by sudden visual loss, acute headaches, retroorbital pain, and nausea. Surgical removal is the recommended treatment to restore or preserve vision and to eliminate the risk of future hemorrhage.

Nephrogenic systemic fibrosis presenting as myopathy: a case report with histopathologic correlation.

Nephrogenic systemic fibrosis is primarily a skin disorder associated with renal insufficiency and exposure to gadolinium-containing (GAD+) contrast. We present the case of a 64-year-old man who was exposed to gadolinium while in acute renal failure, and months later developed limb stiffness, proximal weakness, and woody muscle texture. Muscle biopsy demonstrated chronic non-inflammatory fibrosing myopathy.

Diabetes insipidus, panhypopituitarism, and severe mental status deterioration in a patient with chordoid glioma: case report and literature review.

Objective: To describe a rare progressive case of chordoid glioma clinically masquerading as idiopathic diabetes insipidus (DI).

Methods: We describe the clinical, radiographic, and laboratory findings of the study patient and briefly review the relevant literature.

Results: A 41-year-old woman was referred to our center for evaluation of worsening mental status changes, a newly diagnosed suprasellar mass, and possible endocrine dysfunction.

Learning the topological properties of brain tumors.

This work presents a graph-based representation (a.k.a.

Augmented cell-graphs for automated cancer diagnosis.

This work reports a novel computational method based on augmented cell-graphs (ACG), which are constructed from low-magnification tissue images for the mathematical diagnosis of brain cancer (malignant glioma). An ACG is a simple, undirected, weighted and complete graph in which a node represents a cell cluster and an edge between a pair of nodes defines a binary relationship between them. Both the nodes and the edges of an ACG are assigned weights to capture more information about the topology of the tissue.

The cell graphs of cancer.

We report a novel, proof-of-concept, computational method that models a type of brain cancer (glioma) only by using the topological properties of its cells in the tissue image. From low-magnification (80x) tissue images of 384 x 384 pixels, we construct the graphs of the cells based on the locations of the cells within the images. We generate such cell graphs of 1000-3000 cells (nodes) with 2000-10,000 links, each of which is calculated as a decaying exponential function of the Euclidean distance between every pair of cells in accordance with the Waxman model.

MR microscopy of normal human brain.

MR microscopy at 9.4T depicts the architecture of the brain in exquisite detail, including the individual laminae of the cortex, the individual nuclei of the basal ganglia, the thalami, subthalami and metathalami, and the orientations and relationship among the dominant nuclei and white matter tracts of the brain. The authors believe that these anatomic relations will ultimately be displayed in vivo as clinical MR scanners begin to operate at field strengths of 4.

The insula: anatomic study and MR imaging display at 1.5 T.

Background And Purpose: The insula is important for gustatory sensation, motor speech control, vestibular function, and sympathetic control of cardiovascular tone. The purpose of this study was to test two hypotheses: 1) gross anatomic study of the insula will disclose reproducible patterns of insular structure, and 2) analysis of MR appearance will enable physicians to recognize these patterns on imaging studies.

Methods: Gross insular anatomy was determined in 16 normal human cadaveric hemispheres.

Adenovirus/herpes simplex-thymidine kinase/ganciclovir complex: preliminary results of a phase I trial in patients with recurrent malignant gliomas.

The management of patients with glioblastoma remains challenging with an average survival of 32-56 weeks. We report on a clinical trial of patients with recurrent glioblastoma treated with adenovirus/herpex simplex-thymidine kinase/ganciclovir (ADV/HSV-tk/GC). Entry criteria for this study included: recurrent malignant glioma after surgical resection and conventional radiation therapy.