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Spiral CT is a fast and effective modality for evaluating a wide variety of musculoskeletal abnormalities in the emergency department setting. The role of spiral CT in evaluating musculoskeletal trauma and musculoskeletal inflammation and infections is discussed, as is the use of multiplanar and three-dimensional imaging.
Home care clients typically present with functional deficits that are frequently attributable to musculoskeletal abnormalities. This article teaches the home care nurse how to conduct a basic musculoskeletal assessment and how to use the findings to develop a thorough plan of care for the home care client.
Prune-belly syndrome is a rare congenital disease involving a deficiency of abdominal muscles, genitourinary abnormalities, and cryptorchidism. About half of the patients with the disease have associated musculoskeletal abnormalities, including club foot and dislocation of the hip. We saw twelve patients with this disease, four of whom required extensive orthopaedic treatment.
Malignant hyperthermia (MH) is rarely associated with specific myopathies or musculoskeletal abnormalities. Three clinical investigations of MH associated with either non-specific myopathies or congenital disorders in three separate families are presented. Two of these cases also show evidence of exercise-induced rhabdomyolysis. In each case MH susceptibility was confirmed by in vitro contracture testing of quadriceps muscle. DNA sequence analysis of each kindred revealed the presence of a common novel mutation that results in an arginine401-cysteine substitution in the skeletal muscle ryanodine receptor gene (RYR1). Haplotype analysis using chromosome 19q markers indicated that the three families are likely to be unrelated, providing confirmation that the MH/central core disease region 1 of RYR1 is a mutation hot spot.
Magnetic resonance imaging (MRI) has provided an ideal means, unmatched by other preexisting modalities, of examining musculoskeletal abnormalities, particularly those involving tendons and ligaments in the lower extremities. Lack of motion artifact, convenience of application of surface coil, and absence of overlying structures have made the lower extremities ideally suited to MRI. In addition, the abundance of adjacent adipose tissue provides a superb contrast background. Although evaluation of trauma remains the most common reason for MRI examination, many other conditions may also affect tendons and ligaments. As in other soft-tissue, chondral, and osteochondral lesions, MRI provides exquisite details of abnormalities in these structures. Part II of this review systematically reviews the abnormalities of tendons and ligaments in the pelvis and lower extremities.
The Marfan syndrome is a serious heritable connective-tissue disorder characterized primarily by ocular, cardiovascular, and musculoskeletal abnormalities but also involving multiple other tissues and organs of the body. Inherited as an autosomal dominant disorder, the etiology and pathogenesis of the Marfan syndrome are presently unknown. We have documented consistent apparent deficient content of elastin-associated microfibrillar fibers by indirect immunofluorescent (IF) studies of Marfan skin, as well as deficient accumulation of related fibrous materials in cultures of Marfan fibroblasts as compared with normal controls and patients with other heritable disorders of connective tissue. These data have suggested that abnormalities in the microfibrillar component of elastic-fiber systems may have a role in the etiology and pathogenesis of the Marfan syndrome. In the present study, we have analyzed the IF staining patterns of skin and fibroblast cultures from Marfan syndrome patients and normal first-degree relatives in nine Marfan kindreds. Three of these families had at least one affected individual in each of 2 generations, permitting intergenerational comparison of IF patterns. Six kindreds had one or more affected individuals in a single generation, making comparisons between siblings and/or parent-child possible. In all cases, IF abnormalities cosegregated with the Marfan phenotype and all nonaffected family members were normal. Within family groups containing more than one affected individual, the IF staining patterns were similar between affected patients. These data provide further confirmation of consistent and relatively specific deficiency of microfibrillar fibers in Marfan syndrome.
The Marfan syndrome is a dominantly inherited connective-tissue disorder characterized by ocular, cardiovascular, and musculoskeletal abnormalities. Although the underlying biochemical and molecular defect(s) of this pleiotropic disease is currently unknown, we have consistently observed apparent diminished content of elastin-associated microfibrillar fibers accumulating in skin, or produced by cultured fibroblasts, from patients with the Marfan syndrome and have documented the cosegregation of these immunofluorescent abnormalities of microfibrillar fibers with the Marfan syndrome phenotype in family studies. Recently, an unusual patient has been described with unilateral phenotypic features of the Marfan syndrome, providing an unique opportunity to compare microfibrillar fibers and other connective-tissue components between the affected and nonaffected sides. In the present report, we demonstrate striking differences in apparent content of microfibrillar fibers, as determined by indirect immunofluorescence of skin and fibroblast cultures, that are revealed when multiple homologous samples derived from different sides of the patient's body are compared. In contrast, no differences in apparent content of type III collagen or in the biosynthesis and apparent structure of types I and III (pro)collagens were found. HLA types and chromosome heteromorphisms were identical in fibroblasts from both sides of the body, eliminating the formal possibility of chimerism and suggesting that a postzygotic mutation accounts for the asymmetric manifestation of the Marfan syndrome in this patient. The observation of striking decreases in microfibrillar fibers on the affected side of the body provides further evidence that abnormalities of this component of the elastic fiber system may be central to the pathogenesis and possibly the etiology of the Marfan syndrome.
A mail questionnaire was sent to Finnish anaesthetists and paediatricians to evaluate the risks of reproductive, teratogenic and health complications related to the professions. The incidence of diagnosed spontaneous miscarriages in anaesthetists' families was 10.2% of all pregnancies and it was 13.2% in paediatricians' families. Smoking seemed to increase markedly the incidence of spontaneous miscarriages, which was 22.9% in smoking female anaesthetists and 17.2% in smoking female paediatricians. The gestation times in cases of both full-term pregnancies and miscarriages were shorter in the anaesthetist group than those in the paediatrician group. Congenital abnormalities appeared at an equal rate in both anaesthetist and paediatrician groups, but strikingly, there were nine musculoskeletal abnormalities in the anaesthetists' children compared to no such defects in paediatricians' children. Serious diseases occurred at low frequencies, but three cases of hepatic jaundice and three cases of viral myocarditis in anaesthetists indicate possible infectious hazards to health in anaesthetic work. Different infectious diseases to the respiratory and urinary tracts were commonest among paediatricians. Cancer was not reported in the anaesthetist group. The study does not indicate that gas pollution in operating rooms is harmful to the personnel.
Improved technology and the development of high-resolution transducers have made sonography of the structures of the musculoskeletal system possible. The vast majority of scientific reports on the value of sonography for imaging musculoskeletal abnormalities have been written only in the last decade. Sonography has several inherent advantages: it is relatively inexpensive, allows comparison with the opposite normal side, uses no radiation, and can be performed at bedside or in the operating room if necessary. The advent of MR imaging has revolutionized musculoskeletal imaging and may be used in many instances rather than sonography for evaluating the same abnormalities or anatomic structures. It is important, however, to keep in perspective what the different imaging techniques have to offer, and, if one is just as efficacious as the other, the least invasive and least expensive should be chosen whenever possible. The goal of this article is to review the applications of sonography to the evaluation of musculoskeletal disorders including tendon disease, soft-tissue masses, identification of foreign bodies, osteomyelitis, cellulitis, and certain joint abnormalities.
A 13-year-old girl was evaluated with nonfamilial mullerian anomalies consisting of bilateral blind uterine horns, a separate cervical remnant, and total vaginal agenesis. The observed musculoskeletal abnormalities of the distal extremities differed from those usually associated with both nonfamilial mullerian agenesis (Rokitansky-Küster-Hauser syndrome) and the familial syndromes associated with mullerian anomalies. The pattern of mullerian dysgenesis is unusual in that the entire vagina is absent and a cervical remnant separate from the two blind uterine horns is present in the midline in the normal course of the paramesonephric ducts.
Tapetoretinal degeneration is not infrequently associated with other systemic abnormalities. The authors have examined an 11-year-old girl with severe pigmentary degeneration of the retina associated with severe musculoskeletal abnormalities, growth failure, recurrent respiratory problems, sensorineural hearing loss, and mental retardation. To the best of their knowledge, this constellation of features has not been described previously and probably represents a new clinical entity.
There are three types of familial multiple endocrine neoplasia, but type 2b, which is characterized by medullary thyroid carcinoma, pheochromocytoma, and ganglioneuromatosis, is the only one in which patients also have skeletal anomalies. These musculoskeletal abnormalities include marfanoid habitus, pes cavus, talipes equinovarus, slipped capital femoral epiphysis, kyphosis, scoliosis, lordosis, increased joint laxity, and weakness of the proximal muscles of the extremities. Affected patients have several facial abnormalities as well, the most striking being enlargement of the lips. Therefore, when a patient is seen with one or more of these musculoskeletal defects, the diagnosis of type-2b multiple endocrine neoplasia should be considered. If the characteristic facial features of the disorder are present, the patient should have a prompt examination for medullary thyroid carcinoma and pheochromocytoma.
Airway clearance techniques are indicated for specific diseases that have known clearance abnormalities (Table 2). Murray and others have commented that such techniques are required only for patients with a daily sputum production of greater than 30 mL. The authors have observed that patients with diseases known to cause clearance abnormalities can have sputum clearance with some techniques, such as positive expiratory pressure, autogenic drainage, and active cycle of breathing techniques, when PDPV has not been effective. Hasani et al has shown that use of the forced exhalatory technique in patients with nonproductive cough still resulted in movement of secretions proximally from all regions of the lung in patients with airway obstruction. It is therefore reasonable to consider airway clearance techniques for any patient who has a disease known to alter mucous clearance, including CF, dyskinetic cilia syndromes, and bronchiectasis from any cause. Patients with atelectasis from mucous plugs and hypersecretory states, such as asthma and chronic bronchitis, patients with pain secondary to surgical procedures, and patients with neuromuscular disease, weak cough, and abnormal patency of the airway may also benefit from the application of airway clearance techniques. Infants and children up to 3 years of age with airway clearance problems need to be treated with PDPV. Manual percussion with hands alone or a flexible face mask or cup and small mechanical vibrator/percussors, such as the ultrasonic devices, can be used. The intrapulmonary percussive ventilator shows growing promise in this area. The high-frequency oscillator is not supplied with vests of appropriate sizes for tiny babies and has not been studied in this group. Young patients with neuromuscular disease may require assisted ventilation and airway oscillations can be applied. CPAP alone has been shown to improve achievable flow rates that will increase air-liquid interactions for patients with these diseases or airway malacia. Use of positive pressure to maintain airway patency in these children allows cephalad clearance of secretions. Patients with segmental atelectasis, particularly related to asthma, may benefit from intrapulmonary percussive ventilator, positive expiratory pressure, or PDPV. Prevention of postoperative atelectasis is particularly well suited to positive expiratory pressure, which is not as painful as techniques using oscillations. Neurologically abnormal patients who are unable to cooperate with any active method are also treated using intrapulmonary percussive ventilator, PDPV, and suctioning, if necessary. Musculoskeletal abnormalities, muscular dystrophies, myasthenia gravis, poliomyelitis, or other similar diseases require stabilization of bellows function. Optimizing ventilation in patients with such abnormalities may require positive pressure ventilation either during sleep or continuously. Externally applied pressure, such as with the In-Exsufflator or the cyclically inflated pneumatic belt, can augment the patient's own efforts and is sometimes helpful. Normalizing the vital capacity and functional residual capacity typically helps to improve the ability to cough and clear secretions. Assisted cough devices or maneuvers are described in other papers by Bach and Hill. Not all patients who have weak muscles require nocturnal or continuous support, and may benefit from positive expiratory pressure mask treatments. Further studies are sorely needed for this population. Long-term controlled trials are urgently needed to help establish the best types of treatment for patients with CF and bronchiectasis. Such studies will become more complicated by the introduction of new treatments, such as DNase and other therapies that alter secretions, and may begin to change mucociliary or cough clearance. The selection of appropriate outcome measures is central to studying these questions, and it is unclear which are the most important. (ABSTRACT TRUNCATED)
Musculoskeletal abnormalities of musicians' hands and upper extremities are well-recognized and potentially career-threatening problems. Of the many types of potentiality problematic musculoskeletal disorders that could be assessed, this study focused on joint instability and musculotendinous anomalies. For this study, the hands of 92 music students were compared with the hands of 64 nonmusician control subjects. Flexor anomalies were observed much more frequently than extensor musculotendinous anomalies; clinical evidence of the Linburg-Comstock anomaly was noted for 60 to 70 percent of subjects in both groups. Further analysis of the Linburg-Comstock anomaly demonstrated that the sites of pain among test-positive subjects were variable, test positivity was more frequent in the left hand and among string players, and test positivity tended to decrease from the radial side to the ulnar side of the hand. There were only two definite extensor musculotendinous anomalies (1.3 percent), and both involved a subluxating extensor mechanism affecting the little fingers. Forty-three percent of all subjects exhibited a degree of instability affecting the joints of their hands.
The authors retrospectively reviewed the charts, radiographs, and other accompanying imaging studies of 45 patients with musculoskeletal abnormalities associated with human immunodeficiency virus (HIV) infection. These included 19 patients with osseous infection, including eight with osteomyelitis, seven with bacillary angiomatosis (six of whom were described in a previous report), and four with septic arthritis; 10 with bacterial myositis (six of whom were described in a previous report); seven with non-Hodgkin lymphoma; five with hypointense marrow signal intensity at magnetic resonance imaging; two with Kaposi sarcoma; one with polymyositis; and one with psoriasis. The musculoskeletal system can be affected by a variety of abnormalities in association with HIV infection. Knowledge of their existence and characteristic appearance is valuable to radiologists for diagnosis and to clinicians for detection and appropriate treatment.
Eight cases of Kabuki syndrome in non-Japanese patients are presented. (Although the name Kabuki Make-up syndrome has been used to identify this condition, the authors recommend that the term "make-up" be deleted from the designation as it has caused problems with some of the families.) Clinical features include a characteristic facies, developmental delay, musculoskeletal abnormalities, and dermatoglyphic differences. The phenotype appears to evolve over time making the diagnosis difficult in infancy. The progressive changes in the facial characteristics as well as the musculoskeletal problems suggest an underlying defect of the connective tissue. Finally, the syndrome appears to be more common in the non-Japanese population than previously appreciated, particularly in the cleft palate population.
Facial malformations have generally been associated with spinal anomalies, but this report reviews patients with specific facial abnormalities and attempts to document accompanying spinal anomalies. The results indicate that the most common types of facial malformations vary predictably in their influence on spinal or other musculoskeletal abnormalities. Apert and Goldenhaar syndromes are associated with significant spinal anomalies.
The history, clinical presentation, and management of malignant hyperpyrexia are presented. The aetiology seems to be associated with some inherited abnormality which affects the movement and binding of calcium ions in the sarcoplasmic reticulum, sarcoplasm, and mitochondria. Whether this is a primary muscular defect or secondary to some trophic neural influence is yet to be established. The subjects carrying the abnormal trait show evidence of a myopathy which is subclinical in most instances and revealed only by estimation of serum CPK or biopsy. In some families where the myopathy is clinically obvious there may be, in addition, a variety of musculoskeletal abnormalities. A plea is made for routine monitoring of temperature during anaesthesia and for procainamide or procaine to be readily available in all operating theatres. A history of anaesthetic deaths in a family calls for special care, and, if the serum CPK is elevated, suxamethonium and halothane are to be avoided. Families with orthopaedic and muscular abnormalities are at increased risk and should have estimation of serum CPK before surgery. As a bonus of this study it is suggested that serum CPK estimations be used to screen pigs for selective breeding and so eliminate the disease, which causes soft exudative pork.