Nutritional aspects of neuromuscular diseases

Evidence suggests that individuals with DMD have reduced skeletal development, including decreased linear growth and bone mineral density, compared to normal subjects. Despite their reduced muscle mass, a high percentage of DMD patients are overweight. Body composition measurements can assist with monitoring changes in fat mass and skeletal muscle mass as the disease progresses. Weight management in overweight DMD patients is indicated because excess adiposity burdens mobility and breathing, but only one study in two DMD patients has documented that weight reduction can be done safely. In the latter stages of the disease most DMD subjects become underweight because of an acceleration in skeletal muscle protein degradation relative to its synthesis. Studies of energy, protein and branched chain amino acid supplementation in DMD have yielded promising but inconclusive results, and more well-designed studies are needed in this area. Although there is currently no cure for DMD, studies on the role of nutritional therapy in increasing the quality of life in these patients are urgently needed. Studies in adults with various SP-NMDs indicate a reduction in fat-free mass and an increase in fat mass relative to controls. The newly developed method of air displacement plethysmography for measuring body composition is ideally suited for SP-NMD subjects because it requires very little effort and the measurement procedure is relatively fast. Dual energy x-ray absorptiometry technology has been proposed for distinguishing myogenic from neurogenic SP-NMDs from calculation of the fat-to-lean soft tissue ratio, which is higher in patients with myogenic muscular atrophy. Studies on the energy metabolism of ambulatory SP-NMD subjects indicate that their basal metabolic rate is either similar to or slightly lower than controls, but 24-hour energy expenditure is about 25% lower than controls. This reduction in 24-hour energy expenditure is due to a reduction in physical activity in SP-NMD. Studies examining the roles of energy expenditure, physical activity, and diet in the development of adiposity and risk for secondary chronic diseases in SP-NMD subjects are currently underway.     

Molecular basis of neuromuscular diseases

For many neuromuscular disorders, the chromosomal location is known, the causal gene has been identified, and direct application of this knowledge may be made in a clinical setting. The benefits resulting from molecular-based methods include improved diagnostic accuracy and genetic counseling for patients and other at risk family members. This chapter discusses in detail four of the most frequently encountered neuromuscular disorders. These diseases include spinal muscular atrophy, Charcot-Marie-Tooth neuropathy, Duchenne/Becker type muscular dystrophy, and myotonic dystrophy.     

Clinical evaluation of a renal mass diagnostic expert system

In this paper, we describe our clinical evaluation of the diagnostic accuracy of the renal mass diagnostic system (RMDS) and of seven physicians. To investigate the value of intravenous urography (IVU) and/or retrograde urography (RU) in diagnosing renal parenchymal tumors and tumors of the renal pelvis, RMDS and the seven physicians were tested with and without the information regarding IVU/RU at two different times. From this study we believe that RMDS can help residents in making more accurate presurgical renal mass diagnosis, and may eliminate the need for IVU/RU in the diagnosing process for a specific group of patients.     

Lower extremity manifestations of neuromuscular diseases

Neuromuscular disorders must be considered when a patient presents with a pes cavus deformity; lower extremity weakness; difficulty in walking; or cramps, stiffness, fatigue, pain, or paresthesia in the extremities. In those instances in which a neurologic disease is considered, distinctions between central and peripheral nervous system origin, focal versus generalized pathology, and static versus progressive course are critical in the diagnosis and treatment of the disorder. The complexities of the nervous system often result in missed or delayed diagnosis of these syndromes. Patients affected with neurologic diseases often require diagnostic and therapeutic interventions from various specialists. This article presents a systematic approach to the patient with a neurologic disorder, with special emphasis on neuromuscular manifestations in the lower extremities. Key observations to aid in the recognition of neuromuscular dysfunction are presented, along with an approach to diagnostic evaluation and management for these patients.     

Efficacy of the conventional diagnostic approach to pulmonary tuberculosis

Oncological pathology represents a topic of particular interest and importance owing to both its rising frequency (151,690 deaths in Italy in 1992) and the continuous progress made in the diagnostic and therapeutic field. The steady growth of this pathology has led to the need to identify a new professional figure: the cancer physician capable of bringing together all the skills required to optimise the diagnosis and treatment of oncological patients. As it is now universally accepted in theory, but not always put into practice, the treatment of oncological pathologies calls for a multidisciplinary approach. The optimal treatment is based on the integration of the roles of all the various specialists: oncologist, surgeon, radiotherapist and expert in pain therapy. In this therapeutic strategy, the cancer physician should manage the starting phase of the disease and subsequently should manage its course together with the surgeon and radiotherapist, returning in the terminal phase to sole management of the cancer patient with the help of other qualified professional figures. In short, the authors feel that it is not exaggerated to state that the cancer physician plays a central role in resolving the needs posed by the problem of cancer, needs which may take the form of diagnosis, therapy and care.     

Principles of orthotic treatment in neuromuscular diseases

Multiple mitochondrial DNA (mtDNA) deletions have been associated with aging in humans and monkeys. Since the inbred mouse strain, C57BL/6, has been extensively studied gerontologically, we sought to investigate its utility as a model for examining the importance of mtDNA deletions in aging. Using the polymerase chain reaction (PCR), we analyzed hind limb skeletal muscle from mice of three age groups (5, 16 and 25 months) for the presence of age-associated mtDNA deletions. We observed multiple mtDNA deletions in all three age groups. Further, the number of deletions detected per mouse increased greatly with advancing age.     

Systolic time intervals of the left ventricle in neuromuscular diseases

In 64 patients having neuromuscular disease and in 11 healthy persons, preejection period (PEP), ejection time index (LVETI) and PEP/LVET ratio of the left ventricle were studied by indirect method. PEP was significantly longer, ejection time index was significantly shorter and PEP/LVET ratio was significantly higher in patients with progressive muscular dystrophy than healthy persons. In 75% of patients having this disease LVETI was shortened and only in 30% of them Ecg abnormalities could be detected. These findings are postulated to be due to diffusely decreased contractility of the left ventricular heart muscle in progressive muscular dystrophy.     

A physiological approach to surgical treatment of progressive early idiopathic scoliosis

The Christ-Siemens-Touraine syndrome (CST syndrome) is the rare an- or hypohidrotic form of the ectodermal dysplasia. During embryonic development, the formation and maturation of the central nervous system and the epithelia of the sense organs, skin, teeth, hair (and less frequently the nails) are disturbed. In addition to the cosmetic impairment, insufficient or absent secretion of sweat and sebum is particularly discomforting as it leads to extreme heat intolerance. The decreased number of apocrine sweat glands and mucous glands in the upper nasopharynx results in diminished resistance to respiratory infections. We describe typical features of the disease in a 60 year old female patient, distinguishing this disease from other forms of ectodermal dysplasia. Diagnostic criteria as well as therapeutic options are discussed.     

Endovascular surgical approach to intracranial vascular diseases

PURPOSE: The endovascular surgical approach to complex disorders of the central nervous system has made rapid and significant advancements over the past decade. Patients with intracranial arterial aneurysms, traumatic carotid and vertebral artery lesions, including fistulas and pseudoaneurysms, hemodynamically significant atherosclerotic lesions, vasospasm, and acute stroke are now being approached and treated by newer and less invasive techniques, including cerebral angioplasty and thrombolytic therapy. METHODS: All procedures are usually performed from a transfemoral approach utilizing a variety of occlusion devices, including detachable silicone balloons, microcoils, electrolytic detachable coils, liquid tissue adhesives, and particulate emboli for vessel occlusion. For dilatation and reperfusion of vessels, balloon angioplasty catheters, stents, and thrombolytic drugs are being used. RESULTS: For the treatment of traumatic vascular injuries, such as carotid cavernous sinus fistulas and vertebral arteriovenous fistulas and pseudoaneurysms, endovascular therapy has become the treatment of choice. The endovascular approach for intracranial aneurysms is emerging as a therapeutic option in selected cases. For occlusive disorders in patients presenting with acute cerebral ischemia, extracranial angioplasty and cerebral thrombolysis techniques are currently under investigation. CONCLUSIONS: As these techniques continue to evolve, the field of interventional neuroradiology will expand the therapeutic options for managing complex cerebrovascular disorders and improve patient outcome in acute stroke therapy.     

Pediatricians' diagnostic approach to pharyngitis and impact of CLIA 1988 on office diagnostic tests

OBJECTIVE: To determine the factors associated with an optimal diagnostic approach to a child with pharyngitis, characterize office laboratory methods for throat swab culture and group A streptococcal rapid antigen testing, and assess the potential impact of the Clinical Laboratory Improvement Amendments (CLIA) of 1988 on the performance of these tests. DESIGN AND SETTING: Mailed survey to all board-certified primary care pediatricians from seven western states with telephone follow-up for nonrespondents. OUTCOME MEASURES: Differences in practice characteristics and use of office laboratory tests for physicians who usually (> 80%) diagnose pharyngitis using a recommended approach vs those who follow this approach less often (< 50%); characteristics of physicians who indicate that they intend to discontinue office throat culture because of CLIA and those who will continue to perform this test also are compared. RESULTS: Responses from 531 pediatricians were analyzed. Forty-four percent diagnosed pharyngitis appropriately for more than 80% of patients, and 17% did so for fewer than 50%. Optimal diagnosis was significantly more common among physicians who cultured throat swabs in their office (relative risk, 1.40; 95% confidence interval, 1.19 to 1.66) and less common among solo practitioners (relative risk, 0.71; 95% confidence interval, 0.56 to 0.88). Factors that may decrease the sensitivity of office throat culture include short duration of incubation (59%), lack of quality control (51%), and limited education of the persons reading results (6%). With implementation of CLIA, 24% of pediatricians reported that they already have discontinued or will discontinue office throat culture, and 23% have discontinued or will discontinue antigen detection testing for group A streptococci. Those most likely to stop office culture include solo practitioners and practitioners who do not currently perform quality control of culture methods. CONCLUSIONS: Office culture for group A streptococci is strongly associated with an optimal diagnostic approach. Implementation of CLIA regulations may substantially decrease the number of physicians who perform this test. The balance between potential improvements in the quality of office culture with CLIA implementation and the decreased availability of this test needs to be assessed.     

Clinical and statistical standards of therapeutic and diagnostic process in patients with ophthalmic diseases]

Rehabilitation professionals contributing to the plan of care for a patient with a wound must be aware of and follow the rules promulgated by regulators, surveyors, and payers. Certain regulations are of particular importance. When establishing functional outcomes, the rehabilitation professional should ask whether the outcomes are meaningful, practical, and sustainable. By becoming part of the multidisciplinary team, rehabilitation professionals can help to improve cost-effectiveness of wound care and patient outcomes.     

A physiological approach to the evaluation of lumbosacral spinal stenosis

It has been demonstrated that MR imaging of the lumbosacral spine may frequently show stenosis in an asymptomatic individual. This article discusses the value of a physiologic test--dermatomal somatosensory evoked potentials--to assist in the diagnosis of true neurogenic spinal stenosis in patients with back and leg complaints and to aid in the separation of these patients from those whose symptoms are caused by degenerative spine disease with referred pain.     

Quality of life. Issues for persons with neuromuscular diseases

Improving quality of life has always been a goal of rehabilitation medicine. However, health care providers often do not know much about the quality of life of individuals with neuromuscular diseases, nor what factors are critical to achieving a good quality of life. Lack of knowledge about subjective quality of life factors can negatively influence expectations and selection of treatments. In the most glaring cases, a physician's subjective but incorrect assessment of a disabled individuals' quality of life may prevent life-sustaining interventions. As a group, the quality of life of individuals with NMD is not much different than nondisabled controls and is substantially better than presumed by the general public and, often times, by health care workers. Nevertheless, their quality of life is reduced in certain areas. Surprisingly, level of disability is not a critical factor that significantly alters life satisfaction. Presumably, this is because physical functioning has been adequately managed. The greatest problems that individuals with neuromuscular disease identified were: lack of information about the disease and services; poor coordination of services; negative attitudes; and a diminished expectation of their potential. In addition, people with severe disabilities had significant problems obtaining, financing, and managing personal care attendants. Factors related to a good quality of life were related to perceived control, perceived health status, but not disability. The more that people could do for themselves, either on their own or with personal care assistants, assistive devices, and use of technology, the better their quality of life.