Autologous haematopoietic stem cell transplantation fails to stop demyelination and neurodegeneration in multiple sclerosis.

The present study analyses autopsy material from five multiple sclerosis patients who received autologous stem cell transplantation. A total of 53 white matter lesions were investigated using routine and immunohistochemical stainings to characterize the demyelinating activity, inflammatory infiltrates, acutely damaged axons and macrophages/microglial cells. We found evidence for ongoing active demyelination in all of the five patients.

Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.

Myosin storage myopathy (OMIM 608358), a congenital myopathy characterised by subsarcolemmal, hyaline-like accumulations of myosin in Type I muscle fibres, was first described by Cancilla and Colleagues in 1971 [Neurology 1971;21:579-585] in two siblings as 'familial myopathy with probable lysis of myofibrils in type I muscle fibres'. Two mutations in the slow skeletal myosin heavy chain gene (MYH7) have recently been associated with the disease in other families. We have identified a novel heterozygous Leu1793Pro mutation in MYH7 in DNA from paraffin sections of one of the original siblings.

A mutation in myotilin causes spheroid body myopathy.

Background: Spheroid body myopathy (SBM) is a rare, autosomal dominant, neuromuscular disorder, which has only been previously reported in a single large kindred. Identification of the mutated gene in this disorder may provide insight regarding abnormal neuromuscular function.

Methods: The authors completed a detailed clinical evaluation on an extensive kindred diagnosed with SBM.

Enterogenous cysts of the spinal canal and cerebellopontine angle.

Enterogenous cysts are rare, benign lesions involving the spinal canal or the cerebellopontine angle. Typically they present with compression of the spinal cord or cranial nerves. They are usually 1 cm or less in size and are typically lined by columnar mucin-producing epithelium resembling enteric epithelium or columnar ciliated epithelium resembling respiratory epithelium.

Immunolocalization of the oligodendrocyte transcription factor 1 (Olig1) in brain tumors.

Recent in situ hybridization studies showed that mRNA levels of OLIG1 and OLIG2 transcription factors are elevated in oligodendrogliomas. We raised polyclonal antibodies against a synthetic peptide homologous to the human transcription factor Olig1 and studied by immunohistochemistry the expression of Olig1 in 84 brain tumors and in non-neoplastic brain tissues. All oligodendrogliomas, oligoastrocytomas, and dysembryoplastic neuroepithelial tumors showed moderate to strong intranuclear immunoreactivity in cells morphologically identified as oligodendrocytes.

DNA damage in nasal and brain tissues of canines exposed to air pollutants is associated with evidence of chronic brain inflammation and neurodegeneration.

Acute, subchronic, or chronic exposures to particulate matter (PM) and pollutant gases affect people in urban areas and those exposed to fires, disasters, and wars. Respiratory tract inflammation, production of mediators of inflammation capable of reaching the brain, systemic circulation of PM, and disruption of the nasal respiratory and olfactory barriers are likely in these populations. DNA damage is crucial in aging and in age-associated diseases such as Alzheimer's disease.

Malignant transformation of a chiasmatic pilocytic astrocytoma in a patient with diencephalic syndrome.

Chiasmatic gliomas with metastatic spread are rare in children and are usually associated with diencephalic syndrome. They are mostly pilocytic astrocytomas and their transformation to high-grade astrocytomas has never previously been reported in the pediatric population. We report leptomeningeal spread of a chiasmatic pilocytic astrocytoma in a child presenting with diencephalic syndrome.

Air pollution and brain damage.

Exposure to complex mixtures of air pollutants produces inflammation in the upper and lower respiratory tract. Because the nasal cavity is a common portal of entry, respiratory and olfactory epithelia are vulnerable targets for toxicological damage. This study has evaluated, by light and electron microscopy and immunohistochemical expression of nuclear factor-kappa beta (NF-kappaB) and inducible nitric oxide synthase (iNOS), the olfactory and respiratory nasal mucosae, olfactory bulb, and cortical and subcortical structures from 32 healthy mongrel canine residents in Southwest Metropolitan Mexico City (SWMMC), a highly polluted urban region.

Acromegaly caused by a growth hormone-releasing hormone-secreting carcinoid tumor: case report.

Objective And Importance: We describe a patient with acromegaly and pituitary hyperplasia secondary to a growth hormone-releasing hormone-secreting gastrointestinal carcinoid tumor. This case report illustrates the importance of including this rare clinical syndrome in the differential diagnosis of acromegaly for patients with suspected or known neuroendocrine tumors.

Clinical Presentation: A 19-year-old, Asian-American, male patient with a 2-year history of a nonresectable, metastatic, intestinal carcinoid tumor presented with complaints of headaches, arthralgias, sweats, and changing features.

The neurological masquerade of intravascular lymphomatosis.

Background: Intravascular lymphomatosis (IVL) is an uncommon systemic disease characterized by occlusion of small vessels by malignant lymphomatous cells. Central nervous system involvement usually presents as subacute encephalopathy, dementia, seizures, or multifocal cerebrovascular events.

Objective: To increase awareness about IVL, an uncommon cause of neurological disease.

Intense p53 staining is a valuable prognostic indicator for poor prognosis in medulloblastoma/central nervous system primitive neuroectodermal tumors.

Unlabelled: Intense p53 immunostaining may predict for a poor prognosis in central nervous system primitive neuroectodermal tumor of childhood.

Background: Medulloblastoma is a common childhood primary brain tumor. Potential prognostic indicators for patients with local disease are age, extent of resection, and gender.

Recurrence in pituitary adenomas in childhood and adolescence.

Pediatric pituitary adenomas are thought to behave more aggressively than their adult counterparts, and the ability to predict the degree of such behavior remains elusive. Proliferation marker Ki-67 and tumor suppressor gene p53 mutations have been used in adults to assist in the evaluation of invasiveness and recurrence; however, their use in childhood and adolescence remains anecdotal. Our study evaluates the proliferative potential in pituitary adenomas of five patients and its relationship with recurrence or persistence of endocrinologic or clinical abnormalities.

Genetic evidence that Shp-2 tyrosine phosphatase is a signal enhancer of the epidermal growth factor receptor in mammals.

By using both genetic and biochemical approaches, we have investigated the physiological role of Shp-2, a cytoplasmic tyrosine phosphatase with two Src homology 2 domains, in signaling pathways downstream of epidermal growth factor receptor (EGF-R). In previous studies, a targeted deletion mutation in the SH2-N domain of Shp-2 was introduced into the murine Shp-2 locus, which resulted in embryonic lethality of homozygous mutant (Shp-2(-/-)) mice at midgestation. By aggregating Shp-2(-/-) embryonic stem cells with wild-type embryos, we created Shp-2(-/-)/wild-type chimeric animals.

Presurgical evaluation and surgical outcome of temporal lobe epilepsy.

The authors analyzed 22 patients younger than 18 years of age with temporal lobe epilepsy (TLE) treated surgically. Patients underwent a comprehensive presurgical evaluation, including video-electroencephalogram. Fifty-five percent had a history of febrile seizures.

Neuro-ophthalmic, radiographic, and pathologic manifestations of adult-onset Alexander disease.

A 61-year-old woman had a 3-year history of imbalance. Eye movement studies revealed square-wave jerks, gaze paretic nystagmus, rebound nystagmus, impaired smooth pursuit, impaired optokinetic nystagmus, and abnormal fixation suppression of vestibular nystagmus. A brain magnetic resonance imaging study showed extensive areas of increased signal from the middle cerebellar peduncles and dentate nuclei, which enhanced with gadolinium.

Biased suppression of hematopoiesis and multiple developmental defects in chimeric mice containing Shp-2 mutant cells.

Shp-2 is a cytoplasmic tyrosine phosphatase that contains two Src homology 2 (SH2) domains at the N terminus. Biochemical data suggests that Shp-2 acts downstream of a variety of receptor and cytoplasmic tyrosine kinases. A targeted deletion mutation in the N-terminal SH2 (SH2-N) domain results in embryonic lethality of homozygous mutant mice at midgestation.

FDG-PET and MRI in temporal lobe epilepsy: relationship to febrile seizures, hippocampal sclerosis and outcome.

Objective: To correlate the volumetric head magnetic resonance imaging (MRI) and fluorodeoxyglucose-positron emission tomography (FDG-PET) scan findings with the history, intracarotid amobarbital procedure, pathology, and outcome in patients with medically refractory temporal lobe epilepsy.

Material And Methods: Thirty-eight patients with temporal lobe epilepsy treated surgically following a comprehensive presurgical evaluation. Follow-up ranged from 12 to 44 months.

Flow cytometric DNA analysis of pediatric intracranial ependymomas.

Objective: To examine the clinicopathologic features and perform flow cytometric DNA analysis of pediatric intracranial ependymomas to determine whether any of these parameters were predictors of clinical outcome.

Methods: Flow cytometric DNA analysis was performed on 17 paraffin-embedded tumors from patients aged 7 months to 16 years.

Results: Seven cases were aneuploid, while the remaining 10 were diploid.

Primary intravascular lymphomatosis associated with Mycobacterium marinum.

Intravascular lymphomatosis (i.v.l.

The jugular foramen: a review of anatomy, masses, and imaging characteristics.

A variety of lesions may occur in the jugular foramen, arising from the structures normally found within the jugular foramen or from contiguous structures. The most common jugular foramen lesions are nontumoral pseudolesions (eg, asymmetrically enlarged jugular foramen, high or protruding jugular bulb) and tumors (eg, paraganglioma, metastasis). In nontumoral pseudolesions, computed tomography (CT) demonstrates smooth, intact margins of the jugular foramen.