Search results for "nerve"
showing 10 items of 1683 documents
The Septum Inguinalis: A Clue to Hernia Genesis?
2018
Purpose: Double ipsilateral inguinal ("pantaloon") hernias and also the more advanced "combined" inguinal hernia involve disruption of the inguinal floor. In the case of pantaloon hernias, the medial boundary of the internal ring remains intact but in combined hernias this is fully disrupted, producing a single hernial protrusion. Deepening the pathophysiology of these hernias may be helpful in addressing hernia genesis, thus improving strategies for the treatment of this disease. Materials and Methods: A cohort of 22 patients who underwent inguinal hernia repair showed double ipsilateral (pantaloon) hernia, comprising distinct direct and indirect protrusions separated by a tissue septum. I…
Subcortical somatosensory evoked potentials after median nerve and posterior tibial nerve stimulation in high cervical cord compression of achondropl…
2008
Abstract Children with achondroplasia may have high cervical myelopathy from stenosis of the cranio-cervical junction resulting in neurological disability and an increased rate of sudden death. To detect myelopathy we recorded somatosensory evoked potentials after median nerve (MN) and posterior tibial nerve (PTN) stimulation in 77 patients with achondroplasia aged 0.3–17.8 years (mean 2.7 years). In addition to the conventional technique of recording the cortical components and the central conduction time (CCT) we employed non-cephalic and mastoid reference electrodes to record the subcortical waveforms N13b and P13 (MN-SEP) as well as P30 (PTN-SEP), respectively, which are generated near …
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
2001
We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes.
Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients.
2013
We developed a new application of comparative multiplex dosage analysis (CMDA) for evaluation of the ataxin 2 gene. Expansions of the triplet CAG can cause spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disease with an autosomal-dominant mode of inheritance. Molecular diagnosis of SCA2 is routinely based on the use of conventional PCR to detect the CAG expansion. However, PCR does not amplify an allele with an expansion of many triplets (>80), which is typically found in infantile and juvenile forms of SCA2, thus leading to false negatives. We propose the analysis of the ATXN2 gene by CMDA to complement existing methods currently used for the detection of large expansions of the …
Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I …
1992
A newborn male with mitochondrial complex I deficiency suffered from neonatal epileptic seizures, which later developed into infantile spasms. The infant was blind due to aplasia of the retinal vessels and hypoplasia of the optic nerve. There was congenital lactic acidosis, which persisted in later life. The boy was microcephalic and retarded. Muscular hypotonia later shifted to spasticity. Succinic acid was increased in urine. We assume that the aplasia of the retinal vessels is due to damage of the retinal ganglion cells caused by the mitochondrial disease in the first 3 to 4 months of pregnancy.
Ultrastructural observations on the central innervation of the guinea-pig pineal gland.
1981
In the present study the central innervation of the guinea-pig pineal gland was investigated. The habenulae and the pineal stalk contain myelinated and non-myelinated nerve fibres with few dense-cored and electron-lucent vesicles. Some myelinated fibres leave the main nerve fibre bundles, lose their myelin-sheaths and terminate in the pineal gland. Although direct proof is lacking, the non-myelinated fibres appear to end near the site where the bulk of the myelinated fibres are located. Here a neuropil area exists where synapses between non-myelinated fibre elements are abundant. Neurosecretory fibres were also seen. The results support the concept of functional interrelationships between h…
Regulation of noradrenergic coerulean neuronal firing mediated by 5-HT2 receptors: involvement of the prepositus hypoglossal nucleus.
1991
Abstract Previous studies have indicated a 5-HT2-mediated inhibitory influence on unit activity in the locus coeruleus. In the present work, attempts were made to determine which area(s) of the brain is (are) involved in this effect: (1) Microiontophoretic application of serotoninergic compounds (quipazine, ketanserin, RU 24969 (Roussel Uclaf), 8-hydroxy-2(di-n-propylamino) tetralin (8-OH-DPAT), metergoline, serotonin) in the locus coeruleus, did not alter the coerulean discharge. Local microinjection of quipazine or ketanserin in the area of the locus coeruleus, as well as in one of its major afferents, the prepositus hypoglossi, had no effect on the unit activity in the locus coeruleus. 1…
Cyclic AMP-inducible genes respond uniformly to seasonal lighting conditions in the rat pineal gland
2006
The encoding of photoperiodic information ensues in terms of the daily profile in the expression of cyclic AMP (cAMP)-inducible genes such as the arylalkylamine N-acetyltransferase (AA-NAT) gene that encodes the rate-limiting enzyme in melatonin formation. In the present study, we compared the influence of the photoperiodic history on the cAMP-inducible genes AA-NAT, inducible cyclic AMP early repressor (ICER), fos-related antigen-2 (FRA-2), mitogen-activated protein kinase phosphatase-1 (MKP-1), nerve growth factor inducible gene-A (NGFI-A) and nerve growth factor inducible gene-B (NGFI-B) in the pineal gland of rats. For this purpose, we monitored the daily profiles of each gene in the sa…
Immunohistochemical analysis of chromogranin A and multiple peptides in the mammalian Merkel cell: further evidence for its paraneuronal function?
1989
By the use of light microscopic immunohistochemistry, epidermal Merkel cells have been examined for the coexistence of some neuropeptides and chromogranin A (CGA). Peptide and CGA-immunophenotypes were similar in adult Merkel cells but variable in fetal skin, where CGA preceded the expression of peptides which were partly expressed only in a subpopulation of Merkel cells from hair follicles. Thus, only Substance P (SP) and calcitonin gene-related peptide (CGRP) were expressed in a subpopulation of Merkel cells from hair follicles. There were similar Merkel cell densities visualized on consecutive paraffin sections by the use of antisera against peptides, CGA and cytokeratin offering useful …
Internuclear ophthalmoplegia of abduction: clinical and electrophysiological data on the existence of an abduction paresis of prenuclear origin.
1992
Three patients showed unilateral and five bilateral abduction paresis. Five had associated adduction nystagmus of the contralateral eye. Electrophysiological testing of masseter and blink reflexes indicated an ipsilateral rostral pontine or mesencephalic lesion, and excluded a lesion of the infranuclear portion of the abducens nerve. Abduction paresis was attributed to impaired inhibition of the tonic resting activity of the antagonistic medial rectus muscle. The prenuclear origin of the disorder is based on morphological and neurophysiological evidence of an ipsilateral inhibitory connection between the paramedian pontine reticular formation and the oculomotor nucleus running close to but …