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Case report: Alagille syndrome.

The clinical case of a boy aged 6 years suffering from Alagille syndrome is described. This is a rare genetic disease characterised, from the hepatic point of view, by anomalies of the intrahepatic biliary ducts (in terms of number, histology and immunohistochemistry) with cholestasis; from the systemic point of view it is characterised by anomalies of various systems (heart, musculoskeletal system, eyes, face, kidneys and nervous system). The patient was referred for dental consultation by the Pediatric Cardiology Section, Sant'Orsola-Malpighi Polyclinic, Bologna City Hospital. Medical history indicated liver transplantation at 3 years; immunosuppressive treatment; heart disease with low risk of bacterial endocarditis (interventricular defect and systolic murmur). Objective examination revealed a dental formula compatible with his age, of a decided green colour (above all the permanent dentition) with numerous caries lesions on the posterior deciduous teeth. In agreeing the treatment plan with the cardiologist (treatment of caries and sealing the fissures and cracks in the permanent first molars) it was decided that antibiotic prophylaxis was not required since such conservative treatment is not at risk for bacterial endocarditis. The patient returned 15 min after the end of the second session with marked swelling of the right upper hemi-lip. Having excluded traumatic origin, a hypothesis was formulated of hypersensitivity to products used during the dental session, in particular talcum-coated gloves and latex rubber dam. The patient was referred immediately to the Dermatology Service, Sant'Orsola-Malpighi Polyclinic, for the appropriate dermatological tests (prick test and epicutaneous test) which confirmed the suspected diagnosis: urticaria from contact with latex materials. The clinical case described confirms the need for the dentist of an interdisciplinary approach in patients suffering from systemic diseases and/or syndromes.

Alagille Syndrome↗

Four decades of conjoined twins at Red Cross Children's Hospital--lessons learned.

Conjoined twins represent a rare but fascinating congenital condition, the aetiology of which remains obscure. Over the past four decades, the paediatric surgeons at Red Cross Children's Hospital have been involved in the management of 46 pairs of conjoined twins, of which 33 have been symmetrical and 12 asymmetrical. Seventeen symmetrical twins have undergone separation with 22 children (65%) surviving; all of the live asymmetrical twins survived separation. We describe the important features of this unique cohort, outline our approach to management and present the results of this approach. We consider some of the ethical and moral dilemmas we have confronted, and discuss the prenatal diagnosis, obstetric implications and postnatal care of these children, including the relevant investigations and anaesthetic and surgical management. Specific aspects related to the cardiovascular system, hepatobiliary and gastrointestinal tracts, urogenital tract, central nervous system and musculoskeletal system are highlighted.

Adolescent↗

Reasons why the dockers lost their fitness for work--a retrospective survey.

Evaluation of the reasons for loss of capability for performing heavy and very heavy loading operations was based on retrospective population examinations carried out in two loading sites in ports. Enrolled in the study were 701 people, their working period in port over 5 years (mean 18.9 +/- 6.1 years). The age of the examined averaged 42.4 +/- 11.3 years. In course of 6 years 32.4% of this group changed their work due to structural changes in port, 67.6% due to loss of health qualifications. In the evaluation of health reasons predominant were diseases of the peripheral nervous system, of musculoskeletal system and of connective tissue (22.4%). Second as to the incidence were chronic diseases of the respiratory system and upper respiratory tracts (17.8%), in that 6% of allergies and 1.3% tuberculosis. Next were diseases of the circulatory system (13.3%), out of 3.8% were hypertension and 4.7% heart ischaemic disease. Last position was occupied by diseases of the stomach and duodenum (7.1%) and posttraumatic states of the muscular and osseous system (4.3%). Changing of the working post for health reasons up to 30th year of age occurred in 6.8%, up to 40th year in 10.1% and to 50th year of life in 62.2% people examined. Change of the working post due to professional or educational promotion occurred chiefly below the age of 40.

Adult↗

Congenital malformation in newborns. Analysis of 501 cases.

Over a 14-year period in Chang Gung Memorial Hospital, 510 out of 44, 362 newborns were found to have birth defects. Maternal age, gestational age, parity, infant sex and birth weight were analyzed for each anomaly and compared to normal newborns. The average maternal age and parity for newborns with congenital anomalies were not significantly different from normal newborns. Mothers giving birth to babies with chromosomal aberrations, however, had a significantly older maternal age than the normal population. The gestational age at delivery was significantly shorter for all except craniofacial anomaly. In addition, there was a high percentage of intrauterine growth retardation in congenital anomalies. The central nervous system, the musculoskeletal system and craniofacial systems were the most commonly involved. The leading anomalies included cleft lip, cleft palate, anencephaly, polydactyly, hydrops fetalis, trisomy 21 and cystic hygroma. With improved ultrasound equipment and other prenatal diagnostic procedures, many defects of the fetus can now be identified. If the fetus is diagnosed with a surgically correctable lesion like cleft lip, it can be kept to term, delivered, then managed postnatally. If life-incompatible malformations have been detected before the 24th week, physicians are in a good position to counsel the parents. After the 24th week termination is proscribed by law. Therefore, physicians must take special care to detect fetal abnormalities early.

Congenital Abnormalities↗

Maternal residential exposure to hazardous wastes and risk of central nervous system and musculoskeletal birth defects.

The authors used a case-control design to evaluate the risk of central nervous system and musculoskeletal birth defects relative to exposure to solvents, metal, and pesticide contaminants from hazardous waste sites. Cases included 473 central-nervous-system-defect births and 3305 musculoskeletal-defect births to residents of 18 counties in New York State; controls comprised 12,436 randomly chosen normal births. For each address at birth, the authors assigned a probability of exposure to solvents, metals, and pesticides from hazardous waste sites in the study area (n = 643). They also rated residences by proximity to air releases from industrial facilities and by contamination of community water supplies. Compared with individuals for whom a low probability of exposure existed, mothers who resided in areas assigned a medium or high probability of exposure to hazardous waste contaminants did not show an increased risk of either type of birth defects. After adjusting for mother's race and age, prenatal care initiation, and population density, the resulting relative risks were as follows: central nervous system defects and exposure to solvents, 0.8 (95% confidence interval [CI] = .4, .6); central nervous system and metals, 1.0 (95% CI = 0.7, 1.7); musculoskeletal defects and solvents, 0.9 (95% CI = 0.5, 1.3); and musculoskeletal defects and pesticides, .8 (95% CI = .5, 1.3). With respect to central nervous system defects, there was an elevated risk associated with living near industrial facilities that emitted solvents (odds ratio = 1.3 [95% CI = 1.0, 1.7]) or metals (OR = 1.4, [95% CI = 1.0, 1.8]) into the air. The low proportion of individuals who had a medium or high probability of residential exposure to hazardous waste-site contaminants limited the investigation of particular pathways, disease subgroups, and/or geographic areas. Associations between central nervous system defects and industrial releases of solvents and metals need to be investigated further.

Adolescent↗

Pediatric musculoskeletal MR imaging.

In a review of the indications and uses for magnetic resonance (MR) imaging of the pediatric musculoskeletal system, MR evaluation of conditions unique to the pediatric musculoskeletal system were emphasized. Indications for MR imaging of the pediatric musculoskeletal system include evaluation of bone marrow, neoplastic processes, and periarticular disorders.

Bone Diseases↗

Musculoskeletal adaptations and injuries due to overtraining.

Overtraining places a demand on the musculoskeletal system that may lead to damage to the musculoskeletal system, as well as to clinical, functional, and biomechanical adaptations that may be detrimental to sport performance. The types of injuries identified range from overt, which are obvious injuries that will usually prevent athletic performance for some period of time, to the subclinical, which decrease performance, but may be seldom recognized. These injuries apparently may be avoided or lessened in severity by a combination of several methods. A thorough preparticipation evaluation is important to detect subtle adaptations in strength and flexibility that can result from overtraining and may increase the athlete's chances of injury. A good sport-specific conditioning program is necessary to give the athlete a strong musculoskeletal base on which to build athletic skills and to decrease the risk of overtraining adaptation. In many sports, prehabilitation exercises can be performed for those musculoskeletal areas that are under high stress in a particular sport. Also, a maintenance conditioning program that extends through the season may be important to maintain fitness throughout the season. Following proper principles of conditioning, including specificity, recovery, and progression, are important. A complete and accurate diagnosis of the injuries that do occur is necessary so that proper treatment may follow. This can be facilitated by understanding the types of clinical presentations of injuries, and the different anatomical and functional alterations that may be acting to cause or to continue the clinical presentation. By following these general guidelines, safe participation in sporting activities as well as performance will be enhanced. The exact point where "training" becomes "overtraining" is difficult to define, especially prospectively. An exciting area of sports medicine research will be to define the anatomic parameters and exercise doses that will cause overtraining, and to devise fitness examinations and training programs that will allow maximal performance with minimal overload risk. At the present time, retrospective studies do indicate that adaptations occur in muscles, tendons, and bones in response to high training loads, and these particular adaptations are not beneficial to performance and may be associated with increased injury risk. Since the optimal exercise dose is not known, provision for evaluation of these adaptations and prehabilitation of all noninjured areas or proper rehabilitation of all injured areas will best prepare the musculoskeletal system for training.

Adaptation, Physiological↗

An in vivo study of low back pain and shock absorption in the human locomotor system.

In this second of three papers, the principles of a non-invasive in vivo method to quantitatively evaluate the shock absorbing capacity of the human musculoskeletal system and the correlation of this shock absorbing capacity with low back pain (LPB) symptoms are presented. The experiments involved patients suffering from low back pain (as well as other degenerative joint diseases) and healthy patients. The obtained results reveal that low back pain correlates with the reduced capacity of the human musculoskeletal system between the femoral condyle and the forehead to attenuate incoming shock waves. Examination of the absolute values of the amplitude of the propagated waves leads to the conclusion that the human locomotor system, which possesses reduced attenuation capacity, tries to prevent overloading of the head from insufficiently attenuated shock waves. Results of the present investigation support the idea that the repetitive loading resulting from gait generates intermittent waves that propagate through the entire human musculoskeletal system from the heel up to the head. These waves are gradually attenuated along this course by the natural shock absorbers (bone and soft tissues). Contemporary methods for examination of the human musculoskeletal system may by improved by using the proposed non-invasive in vivo technique for quantitative characterization of the locomotor system's shock absorbing capacity.

Adolescent↗

Comparing psychotic and affective disorders by musculoskeletal structural examination.

Groups of hospitalized patients with psychotic and affective disorders (N = 60) underwent musculoskeletal structural examination. Psychotic and affective disorders each tend to affect a different portion of the musculoskeletal system, with psychotic patients exhibiting increased musculoskeletal dysfunction in the lower extremities and affective-disorders patients exhibiting increased cervical and thoracic dysfunction. At the clinical level, the structural examination may be used to correlate psychiatric disorders with dysfunctional regions of the musculoskeletal system.

Adolescent↗

Regional circulatory and systemic hemodynamic effects of diaspirin cross-linked hemoglobin in the rat.

Diaspirin cross-linked hemoglobin (DCLHb) (Baxter Healthcare Corporation) is a promising resuscitative fluid. The effect of DCLHb (400 mg/kg, i.v.), on regional circulation and systemic hemodynamics was studied in male Sprague-Dawley rats using a radioactive microsphere technique. Systemic hemodynamics, distribution of cardiac output, regional blood flow and vascular resistance were determined before (baseline) and 15, 30 and 60 min after the administration of DCLHb. Infusion of an equal volume of saline did not produce any significant change in systemic hemodynamics or regional circulation. DCLHb produced an increase (79%) in the mean blood pressure which lasted for more than 60 min. Heart rate, cardiac output and stroke volume were not significantly affected, while total peripheral resistance was increased after the administration of DCLHb. DCLHb produced significant increases in blood flow to the heart, gastrointestinal tract (GIT), portal system and skin. The blood flow to the kidney, brain and musculoskeletal system was not significantly affected by DCLHb. The vascular resistance was not altered in the heart, brain, GIT, portal system, kidney or skin, but there was a marked increase in the vascular resistance in the musculoskeletal system. There was a significant increase in the percentage of cardiac output to visceral organs like heart, GIT and portal system, while a marked decrease in the percent cardiac output to musculoskeletal system was observed with DCLHb. It is concluded that the blood flow to most of the organs is either increased or is not affected by DCLHb.

Animals↗

Whole joint embedding in polymethylmethacrylate: a method for preparing intact musculoskeletal organ systems for histomorphology and 3-D reconstruction.

Large and medium size undecalcified joints were embedded in methylmethacrylate resin. Sections of 600 microns prepared from polymethylmethacrylate blocks show minimal distortion and are suitable for surface staining and three-dimensional reconstruction. The 5 microns sections prepared from these slabs retain good cytological detail. This method permits the examination of musculoskeletal organ systems at both macroscopic and microscopic levels.

Animals↗

Occupational class, physical workload, and musculoskeletal morbidity in the engineering industry.

In 1973, 502 employees in three metal industry plants, stratified by age, sex, and occupational class, were examined for physical workload by interview and observation at the workplace and for musculoskeletal disorders by questionnaire, interview, and clinical examination. Five years later, 88% of the sample were re-examined for their musculoskeletal status. The work of the blue collar groups was heavier as measured by indices of physical work load based on the observation and interview (physical strain, physical load, static phases, and stereotypy). Rheumatic symptoms, clinical findings in the musculoskeletal system, and chronic musculoskeletal diseases were more frequent in both female and male blue collar workers than in the respective white collar groups on the first occasion and the increase in morbidity during follow up was higher in the blue collar groups. At an individual level within the blue collar class, however, associations between indices of physical workload and musculoskeletal morbidity were weak or non-existent. The associations were weakened by selective movement of people with musculoskeletal disorders from heavy jobs to premature retirement or to lighter jobs. Physical strain and physical load were negatively associated with the incidence of long term musculoskeletal disorders in the female blue collar group.

Bone Diseases↗

Musculoskeletal manifestations in hyperlipidaemia: a controlled study.

Eighty eight patients with hyperlipidaemia (81 white patients from South Africa and seven patients of mixed race from the West Cape area) were studied. Forty eight had adult familial hypercholesterolaemia, 16 had juvenile familial hypercholesterolaemia, and 24 had mixed hyperlipidaemia (increased cholesterol and triglycerides). They were interviewed and examined and their musculoskeletal manifestations compared with 88 controls with normal lipid profiles, and matched for age, sex, and race for each group of patients. The following manifestations were significantly increased in the patients: (a) tendon xanthomas particularly of the tendo Achillis in patients with adult familial hypercholesterolaemia and mixed hyperlipidaemia; (b) tendo Achillis tendinitis in patients with adult familial hypercholesterolaemia and mixed hyperlipidaemia; and (c) oligoarthritis in patients with mixed hyperlipidaemia but not in those with adult familial hypercholesterolaemia. Migratory polyarthritis and transient tendo Achillis pain were rare. Thirty eight per cent of patients with juvenile familial hypercholesterolaemia had musculoskeletal system manifestations none of which was significantly increased compared with controls. There was a significant association between tendon xanthomas and tendo Achillis tendinitis. There was a significant difference in pretreatment cholesterol levels in the patients with adult familial hypercholesterolaemia and musculoskeletal system manifestations compared with those without and in all three groups combined. The study confirms an association between hyperlipidaemia and tendon xanthomas, tendo Achillis tendinitis, and to a lesser extent oligoarthritis but not migratory polyarthritis or transient tendo Achillis pain as reported in other studies. It also shows that musculoskeletal system manifestations antedated the diagnosis of hyperlipidaemia in 24/39 (62%) patients and that the manifestations improved or resolved completely in 19/30 (63%) patients after receiving lipid lowering treatment. It is therefore important to recognise the association between musculoskeletal system manifestations and hyperlipidaemia for diagnostic and therapeutic reasons.

Achilles Tendon↗

[Overuse injury syndromes of the locomotor system].

Related either to athletic activities and recreation or to various professional activities, overuse injuries of the musculoskeletal system are common in the life of modern humans. Various studies indicate that approximately 30% to 50% of all sports injuries are caused by overuse. Therefore, it is not surprising that overuse injuries are frequently discussed. The mode of this discussion is usually limited to the analysis of different individual painful syndromes, specific localization of the painful syndrome in the musculoskeletal system, or the specific tissues affected by overuse injuries (tendinitis, bursitis, stress fractures, etc.). The purpose of this article is to systematically present today's knowledge of overuse injuries which affect the musculoskeletal system as a whole. Regardless of the localisation and the affected tissue, all clinical entities are presented in the same manner: the name and the definition of the syndrome, aetiopathogenesis, clinical picture, diagnostic, non operative, and surgical treatment, and the possibility of prevention. Beside presenting the newest discoveries reported in medical literature, this article also brings a wealth of individual cases and experiences encompassing histopathological examination, x-ray analysis, and the results of both conservative and surgical procedures.

Cumulative Trauma Disorders↗

Applications of musculoskeletal sonography.

To successfully examine the musculoskeletal system sonographically, one must understand the normal musculoskeletal anatomy and function and be aware of the abnormal processes that affect the musculoskeletal structures. The goal of this review article is to provide a systematic approach to sonographic examination of the musculoskeletal system. The general sonographic appearances of normal and abnormal muscles, tendons, ligaments, bursae, and nerves are reviewed. The article then applies this general information to specific clinical applications by reviewing the normal anatomy of and specific pathologic conditions that affect the shoulder, elbow, hand, wrist, hip, knee, ankle, and foot.

Ankle↗

Musculoskeletal manifestations of systemic lupus erythematosus.

The musculoskeletal system is involved in nearly all patients with SLE. Transient arthralgias or arthritis are common and, in some patients, there is a progression to rheumatoid-like nonerosive hand deformities (Jaccoud's syndrome). The major disabling type of joint disease in lupus is articular osteonecrosis, often induced by high-dose corticosteroids. Rare forms of musculoskeletal manifestations of lupus include spontaneous tendon rupture, crystalline arthropathies, subcutaneous calcifications, and inflammatory myopathy.

Arthritis↗

[Comparison of the first medical assessment for rehabilitation benefits and disability pension in Iceland September 1st 1999 to November 30th 2003.].

AIMS: To evaluate the main characteristics which differentiate between those who are considered to benefit from rehabilitation and those for whom disability pension is thought more appropriate. MATERIAL AND METHODS: The study includes all those fulfilling the medical criteria for rehabilitation benefits or full disability pension in their first assessment at the State Social Security Institute of Iceland between September 1st 1999 and November 30th 2003. RESULTS: Rehabilitation benefits were mainly awarded in younger age groups; disability pension in older age groups. Mental and behavioural disorders were the most common medical reasons for granting rehabilitation benefits among both genders, followed by disorders of the musculoskeletal system and connective tissue, malignant neoplasms and injuries. Among females disorders of the musculoskeletal system and connective tissue were the most common medical reason for granting full disability pension, but this group of disorders was a less common reason for rehabilitation benefits. Those who fulfilled the medical criteria for rehabilitation benefits due to disorders of the musculoskeletal system and connective tissue were markedly older than those who fulfilled the medical criteria for rehabilitation benefits due to mental and behavioural disorders. CONCLUSION: In Iceland rehabilitation benefits are most likely to be awarded to relatively young claimants suffering from psychiatric disorders.

English Abstract↗