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Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall.

Phacomatosis pigmentokeratotica (PPK) represents a specific "twin nevus" syndrome in which a speckled lentiginous nevus (SLN) is associated with an organoid nevus with sebaceous differentiation. A boy with a large nevus sebaceus on the left face and upper part of the trunk, a giant segmental SLN extending from the abdomen to the feet bilaterally, and right hemihypertrophy developed an embryonal rhabdomyosarcoma of the right abdominal wall at age 6 months. A variety of musculoskeletal, neurologic, and ocular anomalies have been observed in patients with PPK, reflecting the individual manifestations of both SLN and Schimmelpenning syndromes. This report adds hemihypertrophy to the spectrum of extracutaneous manifestations of PPK and, to our knowledge, represents the first observation of a rhabdomyosarcoma arising in contiguity with an SLN in a patient with PPK. The development of a rhabdomyosarcoma in our patient likely reflects both increased propensity for growth (as evidenced by the hemihypertrophy) and the pluripotent nature of neural-crest derived cells within the field defect that underlies an SLN.

Abdominal Wall↗

Training and clinical competency in musculoskeletal medicine. Identifying the problem.

Injuries and diseases of the musculoskeletal system account for more than 20% of patient visits to primary care and emergency medical practitioners. However, less than 3% of the pre-clinical medical school curriculum is devoted to teaching all aspects of musculoskeletal disease, and only 12% of medical schools require mandatory training in musculoskeletal medicine during the clinical years of undergraduate medical education in Canada. Available elective training in musculoskeletal injuries and diseases is commonly taught by hospital-affiliated physicians and surgeons, with the result that this teaching case load is typically skewed towards serious and/or surgical problems. The disparity between the clinical competence required for musculoskeletal problems in clinical practice and the content and format of medical education has not yet been addressed by changes in medical school curricula. One of the reasons for this is that the available morbidity statistics, which provide data regarding the frequency of specific musculoskeletal diagnoses, are based on diagnostic codes which are imprecise and incomplete. This prohibits the accurate selection of course content in this area, which is among the first steps in the development of a curriculum.

Clinical Competence↗

Primary care management of chronic musculoskeletal pain.

Chronic musculoskeletal pain, a common problem seen in the primary care setting, is often frustrating for both the patient and the clinician. Despite its prevalence, chronic pain is often poorly understood and inconsistently managed by health care providers. Unlike acute pain, chronic pain serves no biologic function and persists long after the tissue has healed from injury. Patients with chronic pain may become isolated from friends and family, lose their jobs, and develop depression. Nonpharmacologic techniques such as acupuncture, massage, and relaxation may be helpful to the patient with chronic pain. In addition to nonsteroidal antiinflammatory drugs, antidepressants and opioid analgesics are useful for treating chronic musculoskeletal pain. This article explains that pathophysiology of chronic pain, lists aspects of chronic pain that distinguish it from acute pain, and develops a general primary care plan for patients with chronic musculoskeletal pain.

Anti-Inflammatory Agents, Non-Steroidal↗

Patients' adaptive experiences of returning to work following musculoskeletal disorders: a mixed design study.

Compelling evidence from multiple studies has identified possible causes of upper extremity musculoskeletal disorders (MSDs). MSDs are multifactorial in origin with a number of risk factors contributing to their development. Despite studies attempting to provide change and prevention, the rise in MSD incidence has not slowed. To fully understand the etiology, it is important to consider the entire spectrum of possible causes. The purpose of this paper is to explore the experiences of persons with upper extremity musculoskeletal disease and their adaptation back to work. A mixed design explorative study involving quantitative questionnaires and qualitative interviews with MSD subjects was conducted. The methodology included completion of the Disability of Arm, Shoulder, and Hand questionnaire (DASH), Work Environment Scale (WES), and interviews. DASH results demonstrated meaningful changes in the subscales "overall function" and "function at work." The WES showed positive associations in all subscales. Comparison across the cases during interviews revealed four major themes characterizing the adaptive process.

Adaptation, Physiological↗

Musculoskeletal patterning in the pharyngeal segments of the zebrafish embryo.

The head skeleton and muscles of the zebrafish develop in a stereotyped pattern in the embryo, including seven pharyngeal arches and a basicranium underlying the brain and sense organs. To investigate how individual cartilages and muscles are specified and organized within each head segment, we have examined their early differentiation using Alcian labeling of cartilage and expression of several molecular markers of muscle cells. Zebrafish larvae begin feeding by four days after fertilization, but cartilage and muscle precursors develop in the pharyngeal arches up to 2 days earlier. These chondroblasts and myoblasts lie close together within each segment and differentiate in synchrony, perhaps reflecting the interdependent nature of their patterning. Initially, cells within a segment condense and gradually become subdivided into individual dorsal and ventral structures of the differentiated arch. Cartilages or muscles in one segment show similar patterns of condensation and differentiation as their homologues in another, but vary in size and shape in the most anterior (mandibular and hyoid) and posterior (tooth-bearing) arches, possibly as a consequence of changes in the timing of their development. Our results reveal a segmental scaffold of early cartilage and muscle precursors and suggest that interactions between them coordinate their patterning in the embryo. These data provide a descriptive basis for genetic analyses of craniofacial patterning.

Animals↗

The visible man: three-dimensional interactive musculoskeletal anatomic atlas of the lower extremity.

A personal computer-based interactive musculoskeletal anatomic atlas of the lower extremity has been created by using the Visible Human Male data set. A semiautomatic segmentation program was developed by using an intelligent scissors approach and shape-based interpolation, thus considerably reducing the laborious work of the segmentation and labeling process. Manual contour extractions at 3-mm section intervals and shape-based interpolations of intervening sections of the musculoskeletal structures of the lower extremity were performed. For interactive and realistic three-dimensional display, an efficient binary volume rendering method was developed that introduces the concept of shear-warp factorization and applies a newly developed normal calculation technique. Binary volume rendering reconstructs various structures from a series of two-dimensional sections in a few seconds, thus enabling real-time manipulations of the computerized atlas. All of the muscles, tendons, and bones of the lower extremity have been segmented and labeled. The volume-based three-dimensional interactive atlas supports various interactions including rotation, removal, highlighting with artificial colors, arbitrary cutting operation, transparent view, and descriptive knowledge representation. In addition, browsing through the two-dimensional images of transverse, coronal, and sagittal views with labeling and segmentation information is possible.

Anatomy, Cross-Sectional↗

Orthopaedic measurements with computed radiography. Methodological development, accuracy, and radiation dose with special reference to the weight-bearing lower extremity and the dislocating patella.

The overall aim of this study was to develop and evaluate a measurement system for computed radiography (CR) and Picture Archiving and Communication Systems (PACS), permitting measurements of long distances and angles in and between related images. The developed measurement system, which was based on the QUESTOR Precision Radiography (QPR) system, was applied to the weight-bearing knee with special reference to the dislocating patella. The QPR system modified for CR fulfilled the criteria for measuring the weight-bearing knee. The special measuring assistance tools that were developed were important for the implementation of CR and PACS, particularly in workstations programmed for musculoskeletal radiology. The energy imparted to the patient was reduced by 98% at the lowest exposure of the CR-system, compared with our conventional analogue method, without loss of diagnostic accuracy. The CR technique creates a possibility, to an extent not previously feasible, to differentiate the exposure parametres (and thus minimise the radiation dose to the patient) by carefully considering the purpose of the examination. A radiographic method for measuring the rotation of the femur and the tibia, the Q-angle, and the patellar translation was developed and applied to healthy volunteers. The introduced patellar variables have yielded new insights into the complex sequence of motions between the femur, tibia, and patella. The patients with a dislocating patella were subdivided into one "clean" group of spontaneous dislocations and one group with various traumas in the history, which thus resulted in two groups with distinct radiographic differences. The Q-angle was decreased in knees that had suffered dislocations, and the traditional surgical treatment with a further reduction of the Q-angle must be challenged. The use of clinical measurements of the Q-angle was not an optimal way to evaluate the mechanical alignment in the patellofemoral joint under physiological conditions. In this study, we have proved that the developed method for CR and PACS is a useful technique for measurements in and between related images, and is superior to the conventional analogue technique.

Adolescent↗

Utilizing data systems to develop and monitor occupational health programs in a large Canadian hospital.

With rapid change in health care requiring greater emphasis on productivity and quality management, occupational health hazards in hospitals have been receiving increasing recognition, now not only focusing on controlling infection, but also on chemical, physical, mechanical as well as psychosocial hazards. Reducing costly time loss from musculoskeletal injuries is a particular imperative. The Department of Occupational and Environmental Medicine at Winnipeg's Health Sciences Centre, developed databases to help priorize, monitor and improve occupational health programs for its 6,000 employees. Risk assessment/risk management models were adopted to identify hazards, quantify risks and priorize intervention. Using the databases permitted the targeting of groups requiring immunization, resulting in increased coverage. New safety products were introduced and found to be cost-beneficial. A return-to-work post-injury program was particularly cost-beneficial. Over the five years following the implementation of occupational health programs, workers' compensation assessment reductions resulted in savings of more than half-a-million dollars annually. The databases were invaluable in affecting these changes.

Cost-Benefit Analysis↗

Musculoskeletal manifestations of diabetes mellitus.

Rheumatic complaints are common in patients with diabetes. Maintaining good glycaemic control by exercise, diet, and medication improves or prevents the development of rheumatic conditions.

Arthropathy, Neurogenic↗

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.

Waardenburg syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, and pigmentary disturbances, and it represents the most common form of inherited deafness in infants. WS type I is characterized by the presence of dystopia canthorum, while individuals with WS type II have normally-located canthi. WS type III is similar to WS type I but is also characterized by musculoskeletal abnormalities. Defects in the PAX3 gene, a transcription factor expressed during embryonic development, have been shown to cause WS types I and III in several families. In contrast, mutations in PAX3 do not cause WS type II, and linkage of the disease to other chromosomal regions has been demonstrated. We describe 10 additional mutations in the PAX3 gene in families with WS type I. Eight of these mutations are in the region of PAX3, where only one mutation has been previously described. These mutations, together with those previously reported, cover essentially the entire PAX3 gene and represent a wide spectrum of mutations that can cause WS type I. Thus far, all but one of the mutations are private; only one mutation has been reported in two apparently unrelated families. Our analysis thus far demonstrates little correlation between genotype and phenotype; deletions of the entire PAX3 gene result in phenotypes indistinguishable from those associated with single-base substitutions in the paired domain or homeodomain of PAX3. Moreover, two similar mutations in close proximity can result in significantly different phenotypes, WS type I in one family and WS type III in another.

Amino Acid Sequence↗

Healthy aging: health promotion and disease prevention.

Successful aging includes the ability to perform functional tasks. This ability to perform functional tasks, or functional ability, is influenced by musculoskeletal and cardiovascular functioning and the presence and severity of symptoms of chronic disease. Empirical evidence indicates that musculoskleletal and cardiovascular functioning and symptoms of chronic disease in later life are strongly related to lifestyle choices involving physical activity and nutritional intake. Previous researchers have demonstrated that increases in physical activity and appropriate changes in nutritional intake can be effective interventions to prevent and treat symptoms of chronic disease and improve musculoskeletal and cardiovascular functioning. As a result of this evidence, several organizations have developed physical activity and nutritional intake recommendations aimed at maintaining or increasing the functional ability of older adults. These physical activity recommendations include engaging in cardiorespiratory, flexibility, strength, and balance training 3 to 5 days per week. Broad nutritional recommendations for older adults include a low-fat, plant-based diet including fruits, vegetables, whole grains, 8 glasses of water per day, and a vitamin and mineral supplement.

Activities of Daily Living↗

Sonography of tendons.

Recent advances in ultrasound technology and the development of high-resolution ultrasound transducers have enabled detailed depiction of superficial musculoskeletal structures. While in the past considered as complementary to magnetic resonance (MR) imaging, modern ultrasound has clearly become competitive. It is now the imaging modality of choice for evaluating tendon pathology. The major advantages of ultrasound include dynamic evaluation of structures, low cost and wide availability. The main disadvantage is a high degree of operator dependency. This article discusses the current ultrasound characteristics of normal tendon, the artefacts that may mimic tendon disease and reviews the applications of ultrasound to the evaluation of tendon disorders, including tendon tears, tendinitis, tenosynovitis, ganglion cysts and bursitis.

Ankle↗

Botulinum toxin type A management of spasticity in the context of orthopaedic surgery for children with spastic cerebral palsy.

Cerebral palsy is the most common cause of physical disability affecting children in developed countries. Although cerebral palsy is, by definition, a 'static encephalopathy' the associated musculoskeletal pathology is progressive and current definitions are therefore somewhat inadequate. Understanding the stages of the musculoskeletal pathology is fundamental to understanding current management strategies, including spasticity management, strengthening programmes and deformity correction by orthopaedic surgery. In this review, a number of new management strategies are described, in which spasticity management by intramuscular injections of botulinum toxin type A and deformity correction, by orthopaedic surgery, are combined.

Animals↗

The swing procedure for pelvic ring reconstruction following tumour excision.

AIM: High grade periacetabular osteosarcomas extending to the sacro-iliac region present a difficult management problem. We describe our experience of the swing procedure as a method of limb salvage. METHOD: The procedure was performed on three patients with stage II B osteosarcoma. RESULTS: Functional outcome was poor in all three with a mean Musculoskeletal Tumor Society score of 29% (27-30) at last review. All three developed local recurrence and one developed pulmonary metastases. The mean disease free interval post-operatively was 4.7 months (4-6) and they died of their disease at a mean of 10 months (5-16). CONCLUSIONS: This form of limb salvage is technically demanding and carries a high morbidity. Functional outcome is poor and the prognosis for this group of patients is not improved by surgery. Alternative treatment options are discussed.

Adolescent↗

Ranking of static non-neutral postures around the joints of the upper extremity and the spine.

Constrained body postures are usually cited as the major cause of musculoskeletal static loading. Thus, the main goal of the present study was to develop a ranking system for the stressfulness of the non-neutral static postures around the wrist, elbow, shoulder, neck and lower back. This was based on the ratings of perceived discomfort. Sixteen men participated in the study. The results indicated that static postural stresses yielded varying effects on the discomforting rating levels. On the basis of these preliminary findings, a ranking system was developed for the stressfulness of non-neutral postures around the joints of the upper extremity and the spine.

Adult↗

Use of neurodevelopmental treatment techniques in a client with kyphosis: a case report.

This case report describes use of an intervention developed for patients with neurological diagnoses (neurodevelopmental treatment [NDT]) with a patient with musculoskeletal and pulmonary diagnoses. The patient was a 78-year-old woman referred to physical therapy for gait training, therapeutic exercises, and neuromuscular reeducation. Standing at her most upright, the patient initially had a 30 degrees kyphosis with extreme capital extension to bring her head to vertical. Shoulders were internally rotated, and the medial borders of the scapulae rested near the lateral border of the ribs and the scapular spines were at the level of C7. To address the postural impairments, I used NDT spinal and scapular mobilization techniques and strengthening in weight-bearing postures with modified bridging as preparation for gait training. At the end of the episode of care, the patient's upright posture had improved to 10 degrees kyphosis with head in neutral extension in both standing and walking.

Aged↗

Changes in dysferlin, proteins from dystrophin glycoprotein complex, costameres, and cytoskeleton in human soleus and vastus lateralis muscles after a long-term bedrest with or without exercise.

This study was designed to evaluate the effects of hypokinesia and hypodynamia on cytoskeletal and related protein contents in human skeletal muscles. Twelve proteins: dystrophin and its associated proteins (DGC), dysferlin, talin, vinculin and meta-vinculin, alpha-actinin, desmin, actin, and myosin, were quantitatively analyzed during an 84-day long-term bedrest (LTBR). The preventive or compensatory effects of maximal resistance exercise (MRE) as a countermeasure were evaluated. Most of these proteins are involved in several myopathies, and they play an important role in muscle structure, fiber cohesion, cell integrity maintenance, and force transmission. This is the first comparison of the cytoskeletal protein contents between slow postural soleus (SOL) and mixed poly-functional vastus lateralis (VL) human muscles. Protein contents were higher in VL than in SOL (from 12 to 94%). These differences could be mainly explained by the differential mechanical constraints imposed on the muscles, i.e., cytoskeletal protein contents increase with mechanical constraints. After LTBR, proteins belonging to the DGC, dysferlin, and proteins of the costamere exhibited large increases, higher in SOL (from 67 to 216%) than in VL (from 32 to 142%). Plasma membrane remodeling during muscle atrophy is probably one of the key points for interpreting these modifications, and mechanisms other than those involved in the resistance of the cytoskeleton to mechanical constraints may be implicated (membrane repair). MRE compensates the cytoskeletal changes induced by LTBR in SOL, except for gamma-sarcoglycan (+70%) and dysferlin (+108%). The exercise only partly compensated the DGC changes induced in VL, and, as for SOL, dysferlin remained largely increased (+132%). Moreover, vinculin and metavinculin, which exhibited no significant change in VL after LTBR, were increased with MRE during LTBR, reinforcing the pre-LTBR differences between SOL and VL. This knowledge will contribute to the development of efficient space flight countermeasures and rehabilitation methods in clinical situations where musculoskeletal unloading is a component.

Adult↗

Predicting long-term disability in low back injured workers presenting to a spine consultant.

Low back pain (LBP) is the most common, costly, and disabling musculoskeletal condition. Although most LBP patients recover within two months, 2-3% eventually develop disabling chronic low back pain (DCLBP). Due to the prevalence of DCLBP problems, models have been developed to predict which acute low back pain patients are predisposed to the problems associated with this condition. Many see the development of these models as a first step that must be taken before useful approaches for containing and reducing the problem can be conceptualized, implemented, and tested. A recent publication by Cats-Baril and Frymoyer considered this specific problem. While the results of their study indicate considerable success in predicting DCLBP patients, the high prediction rates they obtained may be spurious because of the characteristics of their sampled patient population in conjunction with some of the predictors they found useful in identifying DCLBP patients. The purpose of the present study was to focus on the crucial patient population (i.e., acute LBP patients who perceive their problem as work-related and who have been unable to work for more than two but less than six weeks), and evaluate the ability of various personal, medical, occupational, and psychological factors to predict predisposition to DCLBP. Fifty-five patients referred by occupational physicians were evaluated and followed successfully for at least 6 months. Patients in the study were given a physical examination that included Spratt et al's assessment of pain behavior. They were then asked to fill out an extensive battery of self-report questionnaires, addressing issues associated with personal demographics, health history, work requirements, job satisfaction, injury information, and pain/function factors. At the 6-month follow-up, a structured telephone interview was used to obtain outcome information regarding patient status, including ability to return to work and general outcomes of treatment. Average patient age was 37.2 years (range, 22-57) and 67% of the patients were male. On average, patients had been unable to work for approximately 4 weeks when initially surveyed. Overall, 12.7% of the patients returned to work within 1 month of injury, 40% returned within 2 months, 54.5% within 3 months, 69% within 4 months, 74.5% within 5 months, 76.3% within 6 months, 80% within 7 months, and 83.6% after 7 months. Approximately 16% never successfully returned to work within the follow-up period of this study. DCLBP was found to be correlated only with marital status, as married patients returned to work more quickly than single patients (P < 0.01).(ABSTRACT TRUNCATED AT 400 WORDS)

Adult↗