Biomedical subjects

Robert M Pascuzzi

Publications and source records attributed to Robert M Pascuzzi.

6 recordsLinked to original sources

PubMed2006

Neuromuscular disorders in clinical practice: case studies.

Neuromuscular disorders represent a large group of highly varied and interesting clinical disorders, many of which have major general medical manifestations. These disorders can be diagnosed largely based on the patient's history and physical examination with a little help from modern technology. Despite the outdated belief that neurologic conditions are diagnosed but rarely treatable, all cases discussed herein represent disorders for which there are extensive options and opportunities for meaningful management. These 16 brief case overviews challenge and refresh diagnostic skills and provide the framework for selected comments regarding management options.

Adult↗

PubMed2005

Familial clustering of muscular and cardiac involvement in myotonic dystrophy type 1.

Myotonic dystrophy type 1 (DM1) is associated with both skeletal and cardiac muscle involvement. The aim of the present study was to determine whether familial clustering is observed in the severity of muscle involvement in DM1. We evaluated 51 sibling groups constituting 112 patients with genetically-verified DM1. The siblings were similar to each other in age, cytosine-thymine-guanine (CTG) repeat length, age at disease onset, muscular impairment rating score, and electrocardiographic markers of cardiac conduction disease. After adjusting for the similarities between siblings in age and CTG repeat length, the siblings remained similar to each other in measures of both skeletal and cardiac muscle involvement. These results suggest that factors other than CTG repeat length play a role in the severity and progression of the degenerative skeletal and cardiac muscle disease in DM1.

Adolescent↗

PubMed2003

Peripheral neuropathies in clinical practice.

Based on the history and physical examination, it is often possible to arrive at a relatively specific diagnosis of peripheral neuropathy. The clinical history and examination are often sufficient to create a more focused and appropriate laboratory evaluation, counseling for the patient as to long-term prognosis, and options for clinical management.

Adult↗

PubMed2003

The edrophonium test.

Cholinesterase inhibitors (CEIs) have been known to improve strength in patients with myasthenia gravis (MG) since the 1930s, and have been used as a diagnostic test since the early 1950s. The following review summarizes the history of edrophonium usage in myasthenia gravis, reviews the literature with regard to the method of performing the edrophonium test, and discusses the available information regarding sensitivity and specificity of the test with respect to diagnosis of MG.

Cholinesterase Inhibitors↗

PubMed2002

Myasthenia gravis and Lambert-Eaton syndrome.

Myasthenia gravis is a common autoimmune disorder characterized by the presence of pathogenic antibodies directed against the acetylcholine receptor. Patients present with variable degrees and distribution of fluctuating weakness at times life threatening. Clinical manifestations, establishment of diagnosis, the natural history of myasthenia gravis, and therapeutic options are herein reviewed. Far less common is Lambert-Eaton syndrome (the myasthenic syndrome), another autoimmune disorder due to the presence of antibodies directed against the PQ-type voltage-gated calcium channels. Clinical features and treatment options are summarized.

Humans↗

PubMed2002

ALS, motor neuron disease, and related disorders: a personal approach to diagnosis and management.

Motor neuron disease, from diagnostic criteria, laboratory evaluation, communication with patients and their families, and the approach to long-term management represents a daunting challenge for many neurologists. Contained herein is a selective and biased discussion of several common dilemmas and questions that reflect recurring themes in the evaluation and management of patients with suspected motor neuron disease. The answers to these questions represent the author's opinions and are colored by personal experience, pearls graciously given to me by other experts in the field, and selected studies from the neuromuscular literature.

Adolescent↗