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At least 1,621 records · Page 90Linked to original sources
PubMed2005

Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis.

UNLABELLED: Mullerian agenesis, commonly referred to as Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS), is a congenital defect that is most commonly associated with renal and spinal malformations. It is very rare for Mullerian agenesis to be accompanied by malformations of the extremities. In this report, we describe a 22-year-old woman with Mullerian agenesis and thrombocytopenia absent radius syndrome (TARS). We also review rare syndromes associated with Mullerian anomalies, including Mullerian hypoplasia/aplasia-renal agenesis-cervicothoracic somite dysplasia (MURCS), Roberts syndrome, Bardet-Biedl syndrome (BBS), McKusick-Kaufman syndrome (MKS), Wolf-Hirschhorn syndrome, and others. The pathogenesis of these complex malformation syndromes is not well understood as a result of their sporadic occurrence. However, some of these syndromes do follow a pattern of inheritance, suggesting that they could provide insights into our understanding of their origins. TARGET AUDIENCE: Obstetricians & Gynecologists, Family Physicians LEARNING OBJECTIVES: After completion of this article, the reader should be able to review the rare congenital defects associated with Mullerian agenesis, to determine the genetic etiologies of the associated syndromes with Mullerian agenesis, and to discuss information for parental counseling related to inheritance patterns and growth and development of the affected child.

Abnormalities, Multiple↗
PubMedDate not supplied

Congenital synspondylism: diagnostic features.

Congenital synspondylism is a recently described condition characterized by short stature, an unusual constellation of vertebral fusions without rib anomalies and carpal coalition. A new case is described to illustrate the diagnostic features and the orthopaedic problems associated with this rare syndrome. Review of available literature shows that patients with congenital synspondylism commonly develop spinal deformity and mild respiratory compromise.

Adolescent↗
PubMed2003

[Vocational rehabilitation, a descriptive follow-up study].

INTRODUCTION: Only few studies of the long-term occupational situation of clients after stay in a vocational rehabilitation clinic have been published. The aim of this study was to describe the clients in a specific vocational rehabilitation clinic, to investigate the employment situation 6-10 months after their stay, and to find out whether a doctor's estimate can point out the clients who are able to return to employment, and who are not. MATERIAL AND METHODS: All 254 clients that commenced a stay in the rehabilitation clinic from May 1996 to April 1998 were included. A doctor estimated whether he thought the client could return to employment or not. After 6-10 months the clients received a mailed questionnaire. A total of 210 persons (82.7%) answered the questionnaire. RESULTS: Eighty per cent of the clients were women. About two thirds of the clients were unskilled. Musculoskeletal disease was the reason of vocational disability in 63% of the clients. At the follow-up 50% were awarded disability pension, 20% were either employed or still in a rehabilitation process, whereas 30% still did receive passive support. If the doctor estimated that the person could not return to employment, the positive predictive value was 94.1-98-8%. If the doctor estimated that the person could return to employment the positive predictive value was 36.1-63.9%. DISCUSSION: Many of the clients that were later awarded disability pension could at an early time be pointed out by a doctor. These clients might not need to go through a stay in a vocational rehabilitation clinic. The methods used in vocational rehabilitation clinics should be evaluated and developed in order to make more clients return to employment.

Adult↗
PubMedDate not supplied

A new symmetry-based scoring method for posture assessment: evaluation of the effect of insoles with mineral derivatives.

BACKGROUND: There is a need for a validated rapid procedure for the evaluation of posture, defined as lateral balance/imbalance at the pelvic, shoulder, and neck levels. This would enable clinicians to determine the importance of symmetry in the pathophysiology of musculoskeletal disorders and to assess the efficacy of devices and treatments claiming to normalize or improve posture. In this investigation, the efficacy of such a device, a set of insoles with a hypothesized proprioceptive-like action, was evaluated through use of the described procedure. OBJECTIVES: To develop a new scoring system to evaluate body posture on the basis of symmetry and to use this scoring system to investigate the efficacy of insoles containing a combination of mineral derivatives designed to balance posture through a neurophysiological effect. METHODS: The posture score was based on the evaluation of 4 postural parameters: pelvic and shoulder lateral balance/imbalance, static shoulder rotation, and amplitude of head rotation. In the placebo-controlled study, 32 patients were tested in a double-blind fashion, either with placebo insoles or with insoles containing mineral derivatives. The same study was repeated in unblind conditions in 137 patients selected from 2 chiropractic clinics in an open-label protocol. STUDY DESIGNS: A crossover placebo-controlled, double-blind study and a multicenter, large-scale, open-label study in patients selected from chiropractic clinics. RESULTS: A basal postural evaluation in 137 patients revealed that no patient had a perfect symmetry-ie, a perfectly or nearly perfectly balanced posture. The insoles with mineral derivatives induced a highly significant and similar improvement in the postural score in both the crossover double-blind study (32 patients; 56.7% improvement) and the open-label study (137 patients; 60.7% improvement, P < 0.001). CONCLUSIONS: All patients tested and selected in chiropractic clinics exhibited asymmetries and postural imbalances according to the newly developed scoring method, and this method was successful in assessing the efficacy of insoles exerting a profound and immediate postural effect through a hypothesized neurophysiological mode of action.

Adolescent↗
PubMed2002

Validity and reliability of a dental operator posture assessment instrument (PAI).

PURPOSE: Basic operating posture is considered an important occupational health issue for oral health care clinicians. It is generally agreed that the physical posture of the operator, while providing care, should be such that all muscles are in a relaxed, well-balanced, and neutral position. Postures outside of this neutral position are likely to cause musculoskeletal discomfort. To date, the range of the neutral operator position has not been well-defined; nor have any specific instruments been identified that can quantitatively or semi-quantitatively assess dental operator posture. This paper reports on the development of an instrument that can be used to semi-quantitatively evaluate postural components. METHODS: During the first phase of the study, an expert panel defined the basic parameters for acceptable, compromised, and harmful operator postures and established face validity of a posture assessment instrument (PAI). During the second phase, the PAI was tested for reliability using generalizability theory. Four raters tested the instrument for reliability. RESULTS: Overall, total PAI scores were similar amongst three of the raters, with the fourth rater's scores being slightly greater than the other three. The main effect of the rater on individual postural components was moderate, indicating that rater variance contributed to 11.9% of total variance. CONCLUSIONS: The PAI measures posture as it occurs and will have numerous applications when evaluating operator performance in the dental and dental hygiene education setting. Also, the PAI will prove useful when examining the effects of operator posture and musculoskeletal disorders.

Dental Staff↗
PubMed2007

Prevalence of musculoskeletal disorders at the NFL Combine--trends from 1987 to 2000.

PURPOSE: The National Football League holds an annual combine where individual teams evaluate college football players likely to be drafted. As part of the combine, the players are evaluated with a medical history, physical exam, and review of imaging studies, and then they are rated medically as to their ability to participate in the NFL. The purpose of this study was to review the prevalence of musculoskeletal disorders in this population and to test the hypothesis that fewer players were medically disqualified over calendar time from 1987 to 2000. METHODS: The available summary data for all players reviewed at the annual combine by the medical staff of one NFL team from 1987 to 2000 was analyzed, including each player's position, collegiate division, medical rating, and their diagnoses and surgical procedures. RESULTS: A total of 5047 complete records were available for analysis. The average number of diagnoses per player was 2.45, and the average number of procedures was 0.53. The most common diagnoses were ankle sprain, burner, hand/wrist soft-tissue injury, knee MCL injury, and AC-joint injury. The most common procedures were meniscectomy, knee arthroscopy, ACL reconstruction, shoulder stabilization, and ORIF ankle fracture. Overall, 5.63% of the players were rejected for medical reasons. The risk of failure dropped during the study period (P < 0.0002). Over time, fewer players with a history of ACL reconstruction received a failing grade (P = 0.0005). CONCLUSION: The percentage of athletes with a failing grade, particularly those with a history of ACL reconstruction, decreased over the study period. Knowing the trends in prevalence of injury and treatment for these athletes may help optimize their care and aid the development of injury-prevention and treatment strategies.

Adult↗
PubMed2000

Musculoskeletal and systemic reactions to biological therapeutic agents.

Autoimmune disease, in particular systemic lupus erythematosus (SLE), can be induced by drugs. Over the past couple of years biologic agents have become available for the treatment of inflammatory disease; simultaneously, researchers have realized that these drugs can not only suppress autoimmune disease but may also potentiate it. Interferon-alpha and interferon-beta both may induce autoimmune disease, but this is more frequent with interferon-alpha. Therapy to block tumor necrosis factor-alpha, either with monoclonal antibodies or fusion proteins, has been associated with the development of antinuclear antibodies, but only rarely with clinical development of SLE. None of the three reported cases of SLE occuring after anti-tumor necrosis factor-alpha therapy has developed major organ involvement. The continued use of biologic agents will provide interesting insights into the pathogenesis of autoimmune disease.

Antibodies, Monoclonal↗
PubMed2004

Diagnosis of lower-extremity deep vein thrombosis in outpatients with musculoskeletal disorders: a national survey study of physical therapists.

BACKGROUND AND PURPOSE: Prompt identification of outpatients who may have proximal lower-extremity deep vein thrombosis (PDVT) is important, in part, because of the risk of pulmonary embolism. The purposes of our study were to determine the degree of accuracy of physical therapists' estimates of the probability of PDVT in hypothetical patient vignettes and to determine whether physical therapists would contact the referring physician about the hypothetical patients' condition as recommended in published evidence. SUBJECTS AND METHODS: A survey instrument consisting of 6 vignettes was sent to a nationally representative random sample of 1,500 physical therapists. The clinical decision rule developed by Wells and colleagues served as the gold standard for PDVT probability. RESULTS: A total of 969 (65% response rate) physical therapists completed the survey. We found no evidence of nonresponse bias. For the 2 high-probability vignettes, 87% and 64% of the physical therapists underestimated the probability of PDVT. For the 2 high-probability cases, 32% and 27% of the physical therapists reported that they would not have contacted the referring physician. For the 2 moderate-probability cases, 15% and 30% of the physical therapists would not have contacted the referring physician. Therapist experience, certification status, place of practice, and region of the country did not explain the findings. DISCUSSION AND CONCLUSION: The care of outpatients who are at risk for PDVT could potentially be improved by use of the clinical decision rule developed by Wells and colleagues, although more study is warranted.

Ambulatory Care↗
PubMed1992

Nonradioactive in situ hybridization using digoxigenin-labeled oligonucleotides. Applications to musculoskeletal tissues.

We have optimized a technique for in situ localization of specific mRNAs using digoxigenin-11-dUTP-labeled oligonucleotide probes. DNA probes were synthesized for type I and type II collagen as well as transforming growth factor-beta 1 and 2 (TGF beta 1 and TGF beta 2). Control experiments, such as competitive inhibition, nonsense sequence hybridization, and RNAse digestion all indicated that the technique was highly sensitive and specific. In sections of growth plate, type II collagen mRNA was predominantly expressed in the lower proliferative and upper hypertrophic zone, whereas chondrocytes in articular cartilage stained equally. These techniques then were applied to sections cut from archival pathology specimens of musculoskeletal tissues. Primitive chondrocytes in a chondrosarcoma expressed type I and type II collagen mRNA, but did not stain with the nonsense probe. Sections from an osteosarcoma, an aneurysmal bone cyst, and a neurofibroma also were investigated. The ability to use chemically synthesized oligonucleotide probes, the high resolution, and the short development times possible with this in situ procedure makes this technique appealing for applied research into the gene expression of normal and pathologic cellular events.

Animals↗
PubMed1987

Health status of young children with cancer following discontinuation of therapy.

This paper reports late effects and health status of 198 children who had cancer or leukemia diagnosed under 2 years of age and their therapies electively withdrawn. This series (92 neuroblastoma [NBL], 57 Wilms' tumor [WT], 46 acute lymphoblastic leukemia [ALL], and 3 non-Hodgkin's lymphoma) was followed for 1-12 years after discontinuation of therapy. Thirty-three children were diagnosed before 1973, 92 between 1973 and 1977, and 73 after 1977 in 16 Italian Pediatric Oncology Centers. As of December 1983, 176 children were reported to be alive and without evidence of primary cancer by physicians responsible for their care. One child died from a second primary tumor, two from late recurrences of the primary cancer, and three from other causes; eight were alive with evidence of primary cancer; and eight were lost to follow-up. Kyphoscoliosis was found in 22 children and other musculoskeletal anomalies in 8. Neurological sequelae were observed in 8 out 35 children with ALL treated with radiotherapy (RT) and intrathecal methotrexate. All but one were in continuous complete remission when they developed seizures (three cases), leukoencephalopathy (three cases), or intracerebral calcifications (two cases). One child had cardiomyopathy and subsequently died from cardiac failure: he had received doxorubicin (400 mg/m2) and mediastinal RT (13 Gy) for NBL. Growth impairments were observed in children with NBL and WT.

Antineoplastic Agents↗
PubMed1996

Preliminary determination of the association between symptom expression and urinary metabolites in subjects with chronic fatigue syndrome.

Chronic fatigue syndrome (CFS) patients have a urinary metabolite labeled CFSUM1 with increased incidence (P < 0.004) and relative abundance (P < 0.00003). The relative abundances of urinary CFSUM1 and beta-alanine were associated with alterations in metabolite excretion and symptom incidence. In 20 CFS patients and 45 non-CFS subjects, symptom/metabolite associations were investigated by assessing symptom sensitivity and specificity, and symptom indices of total symptom incidence, CFS core symptoms, cognitive, neurological, musculoskeletal, gastrointestinal, infection-related and genitourinary symptom indices, as well as a visual analogue pain scale of average pain intensity. Thirty-three symptoms had significant (P < 0.005) sensitivity and specificity in the CFS patients compared to that in the non-CFS controls. Severe fatigue was the only symptom with 100% sensitivity and specificity and CFSUM1 excretion was the primary metabolite for expression of this symptom. All nine symptom indices had elevated responses in the CFS patients (all P < 0.0000001). Multiple regression analyses indicated that all the symptom indices had significant correlations (R) with changes in the urinary excretion of metabolites (P < 0.0001). CFSUM1 and beta-alanine were the first and second metabolites correlated with the CFS core symptom index and CFSUM1 was primarily associated with infection-related and musculoskeletal indices whereas beta-alanine was primarily associated with gastrointestinal and genitourinary indices. The strong associations of CFSUM1 and beta-alanine with CFS symptom expression provide a molecular basis for developing an objective test for CFS.

Adolescent↗
PubMed2000

Limb salvage in distal tibial osteosarcoma using a custom mega prosthesis.

We have assessed the oncological and functional results of limb salvage surgery using a custom-made endoprosthetic replacement in six patients (mean age 17 years) with distal tibial osteosarcoma (stage IIB). A wide margin excision was possible in three, marginal in two and contaminated in one. Skeletal reconstruction was performed using a locally designed and manufactured custom-made distal tibial and ankle replacement prosthesis. Two patients developed local recurrence and one necrosis of the flap and deep infection. In three in whom the prosthesis remained in place the mean functional score according to the rating system of the Musculoskeletal Tumour Society was 24.3/30. In carefully selected patients limb salvage with prosthetic replacement is possible for distal tibial osteosarcomas.

Adolescent↗
PubMed2005

Estimating utility values for health states of overweight and obese individuals using the SF-36.

OBJECTIVE: To use health-related quality-of-life (HRQoL) data from the Australian 1995 National Health Survey to estimate the impact of obesity (as measured by body mass index or BMI) on utility and quality-adjusted life expectancy (QALE). METHOD: SF-36 responses from 12,661 individuals in the general population were transformed into utility values using the SF-6D algorithm developed by Brazier and colleagues. Separate regression analyses for males and females were used to examine the impact of BMI and five obesity-related medical conditions (diabetes, coronary heart disease, depression, musculoskeletal disorders, and cancer) on utility. The utility estimates were used to provide indicative estimates of the decrease in QALE associated with being overweight or obese. RESULTS: There was a statistically significant negative relationship between BMI and utility for males and females. For males (females), the marginal effect of a one-unit increase in BMI was associated with a -0.0024 (-0.0034) decrement in utility. Based on these estimates, a non-smoking male (female) aged 40 years who is obese can expect 7.2 (8.7) years less of QALE over their remaining lifetime. CONCLUSIONS: Results suggest that BMI is negatively associated with utility. Evaluation of policies designed to prevent or treat obesity should capture HRQoL as an outcome.

Adolescent↗
PubMed2004

Musculo skeletal trauma in an East African public hospital.

The contribution of musculo skeletal trauma to morbidity and disability in developing countries is often underestimated. As Head of Department of Surgery and Orthopaedics for 3 years at a non-paying hospital in Malawi/East Africa (one of the least developed countries according to UNDP), I analysed my operation log book of 658 cases. Although there are many specific and local factors influencing the picture, the main problems of trauma care in rural Africa become evident. Based on personal experience views on non-operative versus operative fracture treatment, indications, quality control and training are presented. First world standards, equipment and implants of yesterday are often the only ones available but they scarcely meet the demands of clinical practice in developing countries. Contemporary state-of-the-art knowledge lacks most of its material basis to be successfully introduced. However, transforming it into "appropriate technologies" is most rewarding not only for the individual trauma surgeon, but for the wider community within orthopaedics.

Developing Countries↗
PubMed2004

[Uric acid, a neglected molecule--the value of imaging].

Imaging plays a key role in two longterm effects of hyperuricemia: those on the urinary tract and on the skeletal system. This overview concentrates on the diagnosis of urinary stones and of musculoskeletal gout. Urinary stones are negative on radiography, i.e., they cannot be differentiated from the surrounding tissues, and even at intravenous urography only non specific filling defects are shown that may be hard to differentiate from blood clots and papillary necrosis whereas computed tomography without a contrast agent is highly sensitive in detecting all types of stones whether negative or positive at radiography. Gout of the musculoskeletal system usually manifests as an acute gouty arthritis after a long-standing asymptomatic hyperuricemia. An intercritical phase may follow before new acute attacks and--in up to 50%--chronic gout develop. During acute gouty arthritis imaging is non-specific. The distribution pattern, the relation of soft tissue changes and osteolytic paraarticular changes, calcifications and the lack of osteoporosis are a typical, nearly pathognomonic constellation of chronic tophaceous gout. In selected cases CT or MRI may add critical local information.

Arthritis, Gouty↗
PubMed2000

Assessment of duration and frequency of work tasks by telephone interview: reproducibility and validity.

Quantitative estimation of physical work load requires breakdown of jobs into smaller entities. The objective was to study the inter-rater reproducibility of the contents, frequency and duration of work tasks assessed by telephone interview. Two researchers interviewed 18 industrial workers with an interval of from 2 to 3 weeks in a balanced and blinded design. Altogether 114 tasks were identified, 68 of which were recorded by both interviewers. The tasks were classified into regularly occurring (n = 34) and occasional (n = 80). The outcome was the total duration of the tasks per day computed from the data on frequency and duration. Validity of the interview was studied against prestructured diaries filled in by nine workers. The interviewers' assessments of the overall contents of the tasks were rated as 'similar' or 'very similar' for 17 of the 18 workers. Both interviewers detected all 34 regularly occurring tasks. The intraclass correlation coefficient (ICC) of the total duration between the interviewers was 0.81 for regularly occurring tasks. ICCs of the total duration between the diary and the two interviewers were 0.90 and 0.91. However, in many cases the workers could not give a numerical value for duration or frequency. A telephone interview can be used as a first step in exposure assessment in epidemiological studies on risk factors of musculoskeletal disorders. These results show that a single telephone interview can give reproducible and valid information of the frequency and duration of tasks occurring daily. For occasional tasks interview methods should be developed further.

Adult↗
PubMed1992

Cardiovascular disease in systemic lupus erythematosus. A study of 75 patients form a defined population.

All patients with systemic lupus erythematosus in a prospective, epidemiologically based study within a defined area in southern Sweden were invited to participate in an investigation of cardiac function. From 1981 to 1988, 101 patients were included in the study, and 75 of them were investigated according to a fixed protocol by echocardiography, Doppler cardiography, electrocardiography (ECG) at rest and at exercise, and myocardial scintigraphy (in patients whose ECG became abnormal during exercise). IgG anticardiolipin antibodies (IgG aCL) were determined by ELISA. Twenty of the 75 patients (27%) had valvular disease and 12 of these (60%) had increased concentrations of IgG aCL, compared with 12 of 55 (22%) without valvular disease (p less than 0.01). Pericardial effusion was detected in 14 patients (19%) during the study period. Mild pulmonary hypertension was found in 11 patients (16%), who also had increased frequency of IgG aCL. Myocardial infarction had occurred in 7 patients, 3 of whom were women less than 40 years of age. Echocardiography revealed regional hypokinesis or akinesis in 5 of the patients with myocardial infarction. Exercise testing revealed low work capacity in 13 of 54 patients (24%), the limiting symptoms being mainly exhaustion or musculoskeletal pain. An abnormal resting ECG was found in 9 of the patients participating in the exercise test. During exercise, abnormal ST-depression was observed in 8 patients, 2 of whom developed angina. Myocardial scintigraphy was performed in 6 of these patients, revealing reversible uptake defects in all. Prolonged glucocorticoid treatment was associated with valvular abnormalities as well as myocardial infarction. Valvular abnormalities and IgG aCL appeared to be risk factors for cerebral infarction.

Adult↗
PubMed2001

Three-dimensional registration and fusion of ultrasound and MRI using major vessels as fiducial markers.

This paper describes fusion of three-dimensional (3-D) ultrasound (US) and magnetic resonance imaging (MRI) data sets, without the assistance of external fiducial markers or external position sensors. Fusion of these two modalities combines real-time 3-D ultrasound scans of soft tissue with the larger anatomical framework from MRI. The complementary information available from multiple imaging modalities warrants the development of robust fusion capabilities. We describe the data acquisition, specialized algorithms, and results for 3-D fused data from phantom studies and in vivo studies of the normal human vasculature and musculoskeletal systems.

Algorithms↗