Unusual presentation of PYGM gene mutation as late-onset McArdle disease with camptocormia: a case report.

Background: Glycogen storage disease type 5 (McArdle disease) leads to a deficiency in the activity of myophosphorylase resulting in an impaired glucose utilization. The disease can be caused by a variety of mutations in the PYGM gene, and its typical clinical manifestation is muscles weakness within the first three decades of life.

Case Presentation: In this case report we present the diagnostic work-up of a physically active 78-year-old Caucasian patient suffering from a 2-year history of progressive camptocormia including clinical, radiologic, histological, and genetic tests.

Another umbrella murder? - A rare case of Minamata disease.

We report a rare case of fatal intoxication in a 40-year-old man caused by injection of a fluid containing organic mercury, allegedly in an attack with a syringe fixed to the tip of an umbrella. The man suffered from severe neurological symptoms and progressive multiorgan failure and died 10 months later in refractory status epilepticus. Autopsy revealed severe brain atrophy and non-specific kidney damage.

A case of rapidly progressive Rosai-Dorfman disease restricted to the central nervous system.

Sinus histiocytosis with massive lymphadenopathy, also known as Rosai-Dorfman disease (RDD), is an idiopathic condition typically associated with cervical lymphadenopathy, fever and hypergammaglobulinaemia. Extranodal involvement has been reported in diverse sites such as the skin, upper respiratory tract, orbit and the central nervous system. We document a case of intracranial RDD in a 40-year-old woman with rapid evolution over a period of three months.

Cortical cholinergic decline parallels the progression of Borna virus encephalitis.

Borna disease virus (BDV)-induced meningoencephalitis is associated with the dysfunction of the cholinergic system. Temporal development of this cholinergic decline during pre-encephalitic and encephalitic stages of BDV infection remains however elusive. Changes in choline acetyltransferase (ChAT) and acetylcholinesterase (AChE) activities were therefore determined in the cerebral cortex, hippocampus, striatum, amygdala and cholinergic basal forebrain nuclei (ChBFN) of rats infected with BDV.

Disturbance of the cortical cholinergic innervation in Borna disease prior to encephalitis.

Rats experimentally infected with the highly neurotropic Borna disease virus (BDV) display a wide variety of dysfunction such as learning deficiencies and behavioral abnormalities. Prior to the onset of encephalitis alterations of one of the major cortical neurotransmitters, acetylcholine, were monitored immunohistochemically by light and electron microscopy of its synthesizing enzyme choline acetyltransferase (ChAT). We found a progressing decrease in the number of ChAT-positive fibers, starting with discrete changes at day 6 post infection (p.

Analysis of p53 mutation and epidermal growth factor receptor amplification in recurrent gliomas with malignant progression.

Genomic alterations and expression of the p53 tumor suppressor gene and the epidermal factor receptor gene (EGFR) were investigated in 22 patients with primary World Health Organization (WHO) grade II gliomas that on recurrence had progressed to malignant gliomas of WHO grades III or IV. Mutations of the p53 gene (exons 5 to 8) were found in 12 of 22 primary tumors (10 of 13 astrocytomas, 1 of 7 oligodendrogliomas, 1 of 2 oligoastrocytomas). In each of these cases identical p53 mutations were present in the respective malignant recurrences.

Amyloid deposits of immunohistochemically different classes in the ligamentum flavum in biopsies from patients with herniated discs or lumbar spinal stenosis.

Ligamenta flava of 100 patients (n = 107 tissue blocks) were examined for the presence of amyloid by means of polarization microscopy after staining with Congo red. Ninety-three ligamenta flava were resected due to operation of herniated discs while 14 ligamenta flava were obtained after surgical treatment of lumbar spinal stenosis. Amyloid of various amounts (score I-III) and 4 morphologically different appearances were detected in the ligamenta flava of 12 patients.

Physiologically-linked structural plasticity of inhibitory and excitatory synaptic inputs to oxytocin neurons.

The adult oxytocinergic system undergoes extensive synaptic and neuronal-glial remodelling in response to differing conditions of secretion and has become a remarkable example of activity-dependent structural plasticity in the adult mammalian brain. Under stimulation (parturition, lactation, chronic dehydration), glial coverage of oxytocin neurons is significantly reduced and their surfaces become extensively juxtaposed; concurrently, they are contacted by an increased number of synapses. These changes are reversible with cessation of stimulation.

Synaptic plasticity in the rat supraoptic nucleus during lactation involves GABA innervation and oxytocin neurons: a quantitative immunocytochemical analysis.

The hypothalamic supraoptic nucleus (SON) is known to undergo synaptic remodeling in response to physiological stimuli, such as lactation. We here investigated the involvement of the GABAergic innervation in such plasticity by carrying out comparative ultrastructural analyses after postembedding immunogold labeling for GABA on sections of the SON from virgin and lactating rats. Using random single-section analysis to estimate the numerical density of synapses (from areal measurements of the anterior, mid, and posterior portions of the nucleus), we found that the overall density in either group was about 35 x 10(6) synapses/mm3, of which over one-third were GABA immunoreactive.