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Biomedical subjects

M Donaghy

Publications and source records attributed to M Donaghy.

At least 37 records · Page 2Linked to original sources
PubMed2001

Peripheral neuropathy in chronic occupational inorganic lead exposure: a clinical and electrophysiological study.

BACKGROUND AND OBJECTIVES: Traditionally the neuromuscular disorder associated with lead poisoning has been purely motor. This study assessed peripheral nerve function clinically and electrophysiologically in 46 patients with neuropathic features out of a total population of 151 workers with raised blood and/or urinary lead concentrations. RESULTS: Average duration of occupational exposure for the neuropathic group ranged from 8-47 years (mean 21.7). Their mean blood lead concentration (SD) was 63.9 (18.3) microg/dl (normal <40), urinary lead 8.6 (3.3) microg/dl (normal<5.0), urinary coproporphyrins 66.7 (38.4) microg/g creatinine (20-80), urinary aminolaevulinic acid 1.54 (0.39) mg/g creatinine (0.5-2.5). All 46 had distal paraesthesiae, pain, impaired pin prick sensation, diminished or absent ankle jerks, and autonomic vasomotor or sudomotor disturbances. Reduced vibration sensation and postural hypotension were present in all 20 studied. None of these 46 patients had motor abnormalities. Motor conduction velocity and compound muscle action potential amplitudes were normal, with marginally prolonged distal motor latencies. Sensory nerve action potential amplitudes lay at the lower end of the normal range, and the distal sensory latencies were prolonged. No direct correlation was found between the biochemical variables, and the clinical or electrophysiological data. CONCLUSIONS: One additional patient was seen with shorter term exposure to lead fumes with subacute development of colicky abdominal pain, severe limb weakness, and only minor sensory symptoms. Unlike the patients chronically exposed to lead, he had massively raised porphyrins (aminolaevulinic acid 21 mg/g creatinine, coproporphyrins 2102 microg/g creatinine). Patients with unusually long term inorganic lead exposure showed mild sensory and autonomic neuropathic features rather than the motor neuropathy classically attributed to lead toxicity. It is proposed that the traditional motor syndrome associated with subacute lead poisoning is more likely to be a form of lead induced porphyria rather than a direct neurotoxic effect of lead.

Adult↗
PubMed2000

Predominant arm weakness in acute idiopathic polyneuritis: a distinct regional variant.

Acute idiopathic polyneuritis is a heterogeneous disorder with a number of clearly established variants. We describe four patients who present with an acute neuropathy predominantly affecting the arms which we believe should be considered as a distinct variant of acute polyneuritis. In two cases a primary demyelinating process affecting both motor and sensory nerves is suggested whereas in the other two the features were of a pure motor axonal degeneration. The relationship between these neuropathies, other variants of acute idiopathic polyneuritis and multifocal motor neuropathy is considered.

Acute Disease↗
PubMed2000

Leptomeningeal glioblastoma presenting with multiple cranial neuropathies and confusion.

Glioblastoma multiforme (GBM) is the commonest primary malignant neoplasm of the CNS. Usually, patients present with seizures and headache but in the elderly, confusion and generalised cognitive decline are more frequently the initial features. Multiple cranial nerve lesions as a manifestation of leptomeningeal meningitis is a rare presentation of GBM. The diagnosis is not often suggestive on either brain computed tomography (CT) or magnetic resonance imaging (MRI) and is usually confirmed by cerebrospinal fluid (CSF) cytology or histology. We describe the case of an 80-year-old man, who presented with multiple cranial nerve palsies and confusion secondary to leptomeningeal gliomatosis, in whom GBM was detected along the intra-ventricular lining of the left lateral ventricle at ventriculoscopy, in the absence of a distinct parenchymal lesion.

Age Factors↗
PubMed2000

Vasculitic neuropathy in a patient with inactive treated lepromatous leprosy.

A 46 year old Asian male with previously treated lepromatous leprosy developed a stepwise multifocal sensory disturbance 25 years later. Neurophysiology demonstrated marked deterioration from previous studies. Sural nerve biopsy disclosed a vasculitic process superimposed on inactive lepromatous leprosy. Immunocytochemical stains for mycobacterial antigen showed deposits within nerve and vessel walls. A delayed vasculitic neuropathy precipitated by persisting mycobacterial antigen is proposed.

Electromyography↗
PubMed2000

Focal amyotrophy in neurofibromatosis 2.

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by bilateral vestibular schwannomas and other CNS tumours including meningiomas and spinal schwannomas. Occasionally, peripheral neuropathy occurs in these patients but this is the first report of focal amyotrophy. Clinical, electrophysiological, and imaging data from four NF2 patients seen at a specialist neurofibromatosis clinic over a 4 year period are described in whom symptomatic focal amyotrophy preceded the diagnosis of NF2. Two presented with wasting and weakness of a single muscle group, several years before NF2 was diagnosed. In one patient a mononeuritis multiplex was the presenting feature of NF2, and in one patient focal wasting and weakness developed after the diagnosis of NF2 was made. In none of the four cases could a focal peripheral nerve or root neurofibroma be identified despite extensive imaging with MRI, and the limitations of neuroimaging for identifying a structural cause in patients with NF2 with a focal peripheral nerve lesion is discussed. It is likely that NF2 may affect peripheral nerve structures in a manner distinct from a compressive schwannoma.

Adolescent↗
PubMed2000

Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.

OBJECTIVE: To report a novel hereditary motor and sensory neuropathy (HMSN) phenotype, with partial steroid responsiveness, caused by a novel dominant mutation in the myelin protein zero (MPZ) gene. Most MPZ mutations lead to the HMSN type I phenotype, with recent reports of Déjérine-Sottas, congenital hypomyelination, and HMSN II also ascribed to MPZ mutations. Differing phenotypes may reflect the effect of particular mutations on MPZ structure and adhesivity. METHODS: Clinical, neurophysiological, neuropathological, and molecular genetic analysis of a family presenting with an unusual hereditary neuropathy. RESULTS: Progressive disabling weakness, with positive sensory phenomena and areflexia, occurred in the proband with raised CSF protein and initial steroid responsiveness. Nerve biopsy in a less severely affected sibling disclosed a demyelinating process with disruption of compacted myelin. The younger generation were so far less severely affected, becoming symptomatic only after 30 years. All affected family members were heterozygous for a novel MPZ mutation (Ile99Thr), in a conserved residue. CONCLUSIONS: This broadens the range of familial neuropathy associated with MPZ mutations to include steroid responsive neuropathy, initially diagnosed as chronic inflammatory demyelinating polyneuropathy.

Adult↗
PubMed1999

Migraine and stroke in young women: case-control study. The World Health Organisation Collaborative Study of Cardiovascular Disease and Steroid Hormone Contraception.

OBJECTIVE: To investigate the association between migraine and ischaemic or haemorrhagic stroke in young women. DESIGN: Hospital based case-control study. SETTING: Five European centres participating in the World Health Organisation Collaborative Study of Cardiovascular Disease and Steroid Hormone Contraception. SUBJECTS: 291 women aged 20-44 years with ischaemic, haemorrhagic, or unclassified arterial stroke compared with 736 age and hospital matched controls. INTERVENTION: Questionnaire. MAIN OUTCOME MEASURE: Self reported history of headaches. RESULTS: Adjusted odds ratios associated with a personal history of migraine were 1.78 (95% confidence intervals, 1.14 to 2.77), 3.54 (1.30 to 9.61), and 1.10 (0.63 to 1.94) for all stroke, ischaemic stroke, and haemorrhagic stroke respectively. Odds ratios for ischaemic stroke were similar for classical migraine (with aura) (3.81, 1.26 to 11.5) and simple migraine (without aura) (2.97, 0.66 to 13.5). A family history of migraine, irrespective of personal history, was also associated with increased odds ratios, not only for ischaemic stroke but also haemorrhagic stroke. In migrainous women, coexistent use of oral contraceptives or a history of high blood pressure or smoking had greater than multiplicative effects on the odds ratios for ischaemic stroke associated with migraine alone. Change in the frequency or type of migraine on using oral contraceptives did not predict subsequent stroke. Between 20% and 40% of strokes in women with migraine seemed to develop directly from a migraine attack. CONCLUSIONS: Migraine in women of childbearing age significantly increases the risk of ischaemic but not haemorrhagic stroke. The coexistence of oral contraceptive use, high blood pressure, or smoking seems to exert a greater than multiplicative effect on the risk of ischaemic stroke associated with migraine.

Adult↗
PubMed1999

Classification and clinical features of motor neurone diseases and motor neuropathies in adults.

The term motor neurone disease encompasses combined upper and lower motor neurone disorders (amyotrophic lateral sclerosis), pure lower motor neurone disorders (spinal muscular atrophies, multifocal motor neuropathies, post irradiation lumbosacral radiculopathy, post-polio syndrome, hereditary bulbar palsy) and pure upper motor neurone disorders (primary lateral sclerosis, hereditary spastic paraplegia, neurolathyrism, Konzo). The chief clinical and electrophysiological criteria for these different disorders are discussed, with particular attention to diagnostically distinctive characteristics of each. Age of onset, and inheritance are considered as additional diagnostic features.

Adult↗
PubMed1999

Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy.

A white British family with the axonal form of hereditary motor and sensory neuropathy (HMSN, type II) contained one member who developed a recurrent laryngeal nerve palsy at the age of 41 years, in addition to 4 years of symptomatic polyneuropathy and an abducens nerve palsy. Neither of the other family members (the mother and sister) with electrophysiologically confirmed polyneuropathy had any neuropathic symptoms in the limbs or laryngeal or respiratory muscle involvement. An autosomal dominant pattern of inheritance is likely. This is a second report of this rare form of HMSN (type IIC) in which there is associated laryngeal or respiratory muscle weakness. This family differs from the two previously reported pedigrees in which laryngeal or diaphragm weakness had commenced within the first two decades. The discovery of asymptomatic family members attests to the diagnostic value of clinical and electrophysiological study of first-degree relatives when laryngeal or bulbar symptoms develop in the context of chronic axonal polyneuropathy. HMSN type IIC should be distinguished from the more common forms of HMSN - type IIA, in which axonal polyneuropathy is restricted to the limbs, and type IIB, which is of early onset and associated with foot ulceration.

Adult↗
PubMed1999

Diphtheritic polyneuropathy: a clinical study and comparison with Guillain-Barré syndrome.

OBJECTIVES AND METHODS: Clinical features of 50 adults with diphtheritic polyneuropathy (DP) were studied in Riga, Latvia and compared with 21 patients with Guillain-Barré syndrome (GBS). RESULTS: Neurological complications occurred in 15% of patients admitted to hospital with diphtheria and usually after severe pharyngeal infection. Bulbar dysfunction occurred in 98% of patients with DP and only 10% of patients with GBS. Limb weakness was mild or absent in 30% of patients with DP. Ventilation dependent respiratory failure occurred in 20% of patients with DP. The first symptoms of DP occurred 2-50 days after the onset of local diphtheria infection. Neurological deterioration in DP continued for a median of 49 (range 15-83) days and improvement started 73 (range 20-115) days after onset. In 66% of patients with DP, the neuropathy was biphasic with a secondary worsening after 40 days. By contrast patients with GBS worsened for only 10 days on average (range 2-28 days) and improved after 21 (range 4-49) days. Eight patients with DP died, four from severe cardiomyopathy and four from multiple diphtheritic organ failure. Prolonged distal motor latencies (DMLs) were common to both DP and GBS, and more pronounced than motor conduction slowing. Limb symptoms continued after 1 year in 80% of the patients with DP, 6% were unable to walk independently, but independent respiratory and bulbar function had returned in all survivors. By comparison no patients with GBS died and none were severely disabled after 1 year. No death, in patients with DP occurred after antitoxin on days 1 or 2 after onset of diphtheria symptoms, whereas identical rates of death and peak severity of DP were seen both in those who received antitoxin on days 3-6 and those who did not receive it at all. CONCLUSION: Diphtheric polyneuropathy is much more likely than GBS to have a bulbar onset, to lead to respiratory failure, to evolve more slowly, to take a biphasic course, and to cause death or long term disability. Antitoxin seems ineffective if administered after the second day of diphtheritic symptoms.

Adult↗
PubMed1999

Surgery for suspected neurogenic thoracic outlet syndromes: a follow up study.

OBJECTIVES: To assess the outcome of surgical treatment for thoracic outlet syndrome (TOS), and to compare the outcome in patients with and without an underlying cervical rib. METHODS: a heterogeneous group of 40 patients (33 women, seven men; aged 22-62 years) were evaluated 3 months to 20 years after surgery for suspected neurogenic TOS. Forty nine operations had been performed: cervical ribs were removed in 23 patients, together with fibrous band excision in nine. In the 17 without a cervical rib the thoracic outlet was decompressed by resection of the first thoracic rib in nine, and by other operations in eight. RESULTS: After surgery patients reported improved pain (33/36), sensory disturbance (30/35), hand muscle strength (14/27), and hand function (23/34). Postoperatively TOS recurred in two, and symptoms continued to progress in three patients in whom other diagnoses eventually emerged. Surgical complications were recorded in 10 patients, but were transient and did not result in permanent symptomatic sequelae. CONCLUSIONS: Surgical treatment of suspected neurogenic TOS relieves pain and sensory disturbance (90%), but is less effective for muscle weakness (50%). Surprisingly, surgery relieved sensory and motor abnormalities to a similar degree in patients both with and without a cervical rib. Ideally, patients require early operation to forestall permanent hand muscle denervation, but, our retrospective analysis fails to identify any single preoperative diagnostic criterion for TOS, particularly in patients lacking a radiographic cervical rib.

Adolescent↗
PubMed1998

Acquired neuromyotonia in a patient with spinal epidural abscess.

We report a case of acquired neuromyotonia in a patient with Staphylococcus aureus septicemia and a spinal epidural abscess. Autoantibodies to voltage-gated potassium channels, which are associated with acquired neuromyotonia, were present during the patient's acute illness but became undetectable on clinical recovery. The spinal epidural abscess may have triggered the production of these specific autoantibodies, resulting in clinically and electromyographically detectable neuromyotonia.

Abscess↗
PubMed1997

Nonenzymatic glycation of peripheral and central nervous system proteins in experimental diabetes mellitus.

Nonenzymatic glycation of neural proteins could underlie diabetic peripheral neuropathy. Cytoskeletal and myelin protein fractions of central nervous system and peripheral nervous system (PNS) tissue from rats with streptozotocin-induced diabetes of 1.5 and 8 months duration were analyzed for glycation products. In sciatic nerve cytoskeletal preparations from both diabetic and control animals we found high levels of the early glycation product (measured as furosine) after 6 weeks, which had fallen markedly by 8 months. Conversely the advanced glycation end product (AGE), pentosidine, was low at 6 weeks and high by 8 months in diabetic animals. The levels of glycation products were much lower in spinal cord and spinal nerve from diabetic animals. There was increased borotritride labeling of neurofilament subunits, and of cross-linked material, in cytoskeletal fractions of diabetic sciatic nerves. These results show that the PNS cytoskeleton is vulnerable to nonenzymatic glycation, resulting in AGE formation, in diabetic rats and to a lesser extent in normals.

Animals↗
PubMed1997

The use of self infused intravenous immunoglobulin home therapy in the treatment of acquired chronic demyelinating neuropathies.

High dose intravenous immunoglobulin therapy is becoming the established maintenance treatment for several neurological conditions. Therapeutic immunoglobulin is expensive and its administration is time consuming. Efficacy is variable and must be closely monitored. Here, we show that self infused immunoglobulin at home, combined with daily functional strength diaries to predict dose and dosage intervals, is effective, time saving, and convenient for both patients and medical staff.

Demyelinating Diseases↗
PubMed1996

The post-irradiation lower motor neuron syndrome neuronopathy or radiculopathy?

It is not known whether the post-irradiation lower motor neuron syndrome results from radiation damage to motor neuron cell bodies or from damage to the nerve roots of the cauda equina. We studied six cases who had presented with testicular neoplasms, subsequently undergoing irradiation that encompassed inter alia para-aortic nodes with co-irradiation of the distal spinal cord and cauda equina. A predominantly motor disorder affecting the legs ensued after variable and often prolonged latencies (3-25 years). However, all patients also developed mild sensory features either initially or on prolonged follow-up. Sural sensory nerve action potentials (SNAPs) were normal in five. Mild sphincter symptoms occurred in three of five surviving cases after a mean of 7.9 years. MRI showed gadolinium enhancement of the cauda equina in two of three patients. The first reported neuropathological study, uncomplicated by metastatic disease, of the conus and cauda equina was performed in one patient who died. This showed a radiation-induced vasculopathy of the proximal spinal roots, with preservation of motor neuronal cell bodies and spinal cord architecture. These clinical, radiological, neurophysiological and pathological findings all point to a predominantly, but not exclusively, motor radiculopathy affecting the irradiated portion of the cauda equina proximal to the dorsal root ganglia. Radiation exposure exceeded 40 Gy both in our series and in previous reports. The natural history of this disorder is one of relentless deterioration occasionally punctuated by 1-2-year periods of stability. Post-irradiation lumbosacral radiculopathy is a more accurate name for this condition.

Adult↗
PubMed1995

Non-enzymatic glycation of peripheral nerve proteins in human diabetics.

We have measured non-enzymatic glycation of proteins in the cytoskeletal and myelin fractions of nerve fascicles from human sural nerves obtained from diabetic and non-diabetic amputation specimens. Levels of the early reversible glycation adduct, measured as furosine did not differ significantly between diabetics and controls in either protein fraction. Pentosidine levels per unit protein were significantly elevated in diabetics relative to controls in both cytoskeletal (5.96 vs 4.47; p = 0.037) and myelin protein (1.35 vs 0.69; p = 0.023) fractions. Protein cross-linkage in the cytoskeletal fraction, probably due to AGEs, was also higher in diabetics than controls (504 vs 349; p = 0.057). These results show that increased AGE accumulation occurs in cytoskeletal, as well as myelin, peripheral nerve proteins in diabetics. This suggests a possible new mechanism contributing to the axonal degeneration polyneuropathy of diabetes which is based upon irreversible glycation of axonal cytoskeletal proteins causing their cross-linkage and altered function.

Adult↗