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Biomedical subjects

R M Pascuzzi

Publications and source records attributed to R M Pascuzzi.

At least 37 records · Page 2Linked to original sources
PubMed1994

The history of myasthenia gravis.

The first case of myasthenia gravis (MG) was described in 1672. Treatment of MG was negligible until Mary Walker's seminal observation in 1934 of improvement with physostigmine and neostigmine injections. Blalock reported the initial success with thymectomy around 1940. Edrophonium was introduced around 1950 and pyridostigmine in the mid-1950s. John Simpson's hypothesis of an autoimmune etiology for MG in 1960 was later proven correct, and subsequent use of immunosuppressive therapy including corticosteroids led to the modern era in management of MG.

History, 17th Century↗
PubMed1991

Muscle cramps.

Explore the source record for details and available documents.

Diagnosis, Differential↗
PubMed1991

Bilateral anterior cerebral artery infarction resulting from explosion-type injury to the head and neck.

A 43-year-old woman suffered a blast-type injury to the head and neck. She subsequently developed bilateral internal carotid artery occlusion and bilateral anterior cerebral artery infarction not demonstrated by magnetic resonance imaging scan 24 hours after the explosion, but confirmed by a second scan 8 days after the explosion. In patients with blast-type injury to the head and neck who develop coma with a nonfocal neurological exam, the possibility of bilateral carotid artery occlusion and bilateral ischemic infarction should be considered.

Accidents, Home↗
PubMed1990

Schwartz-Jampel syndrome with dominant inheritance.

The Schwartz-Jampel syndrome (SJS) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, joint contractures, short stature, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity. The inheritance pattern of SJS has been assumed to be autosomal recessive. We report the occurrence of the classic SJS syndrome in both a father and son in a non-consanguineous family, suggesting that SJS has the potential for a dominant pattern of inheritance.

Adult↗
PubMed1990

Lambert-Eaton syndrome.

LES is an autoimmune disorder of the neuromuscular junction in which autoantibodies directed against voltage-dependent Ca2+ channels block nerve-evoked Ca2+ entry at the motor nerve terminal. The pathogenic IgG is likely to produce a similar inhibitory effect on the Ca2+ channel function in other cholinergic synapses of the autonomic nervous system. This pathophysiology is sufficient to account for the distinctive clinical, immunologic, and electrophysiologic manifestations in patients with LES. Etiology of this disease is uncertain but in view of its frequent association with small cell lung cancer, this specific type of neoplasm may be implicated in the initiation of autoimmune response. Recent studies indeed support the possibility that the antigenic stimulus in the neoplastic form of LES may arise from voltage-dependent Ca2+ channels found in the lung cancer cells.

Autoimmune Diseases↗
PubMed1990

Reversible cortical blindness (Anton's syndrome) associated with bilateral occipital EEG abnormalities.

A 50-year-old woman with systemic lupus erythematosus was admitted in an obtunded state. An EEG recorded while she was unconscious demonstrated one episode of rhythmic sharp wave activity in the left occipital area that lasted for 5 minutes and was followed later in the same recording by an episode of high amplitude sharp wave discharges in the right posterior temporal and occipital areas. When the patient regained consciousness, she had an Anton's syndrome of cortical blindness with denial. When she recovered light perception only, the EEG demonstrated synchronous and independent right and left occipital-posterior temporal periodic lateralized epileptiform discharges (PLEDs). Cortical blindness (Anton's syndrome) associated with abnormal electrical activity in the occipital areas has only rarely been reported. Our case is significant for the following reasons: 1) PLEDs maximal right and left occipital areas associated with bilateral visual loss has not previously been observed; 2) abnormal electrical activity in the occipital lobes may be a reversible cause of Anton's syndrome.

Blindness↗
PubMed1990

Postpartum intracranial venous thrombosis associated with dysfunctional protein C and deficiency of protein S.

Development of intracranial dural sinus thrombosis in the postpartum period has been attributed to the hypercoagulable state of pregnancy. With increasing recognition of the role of the vitamin K-dependent proteins, protein C and protein S, in intracranial venous and arterial thrombotic events, our understanding of the cause of thrombotic events has improved. We report a patient who developed a superior sagittal sinus thrombosis in the second week postpartum, associated with a dysfunctional protein C and a decreased free protein S concentration.

Adolescent↗
PubMed1989

Mental status abnormalities in temporal arteritis: a treatable cause of dementia in the elderly.

Although temporal arteritis (TA) is a common vasculitis, mental status changes and higher cortical dysfunction have received limited attention in the literature. We report a case which illustrates the potential for TA to produce chronic fluctuating delirium, delusional thinking, and memory impairment in the absence of concomitant symptoms of headache and visual loss. In addition, TA may produce differing symptoms at different times in the same patient.

Aged↗
PubMed1989

Neurofibromatosis, Charcot-Marie-Tooth disease, or both?

The simultaneous occurrence of neurofibromatosis and a peripheral neuropathy that has the clinical and electrophysiological features of Charcot-Marie-Tooth disease (HMSN I) has rarely been reported. A recent report described patients with HMSN I with hypertrophic lumbosacral nerve roots. We report a patient with compelling evidence for neurofibromatosis who also demonstrates clinical and electrophysiological features of Charcot-Marie-Tooth disease. Abdominal and pelvic CT scan revealed diffusely and symmetrically enlarged lumbosacral nerve roots. These nerve roots were biopsied, and the specimens revealed neurofibromas. Histology, electrophysiological studies, radiology, and clinical appearance of the abnormality in peripheral nerves and lumbosacral nerve roots will be emphasized in this paper. The simultaneous occurrence in our patient of neurofibromatosis and Charcot-Marie-Tooth disease suggests a possible genetic relationship between these two disorders.

Adult↗
PubMed1988

Treatment of dural sinus thrombosis with local urokinase infusion. Case report.

Current therapy for dural sinus thrombosis consists of supportive measures, anticoagulation therapy, and in some cases intravenous infusion of a fibrinolytic agent. A patient with extensive dural sinus thrombosis was successfully treated with local urokinase infusion. The technique and rationale for this aggressive therapy are discussed.

Adult↗