Schwartz-Jampel syndrome (osteochondromuscular dystrophy)]

BACKGROUND. Schwartz-Jampel syndrome is a rare disorder inherited as an autosomal recessive trait and characterized by growth retardation, multiple skeletal abnormalities, myotonia-like muscle disorders and unusual facies. CASE REPORTS. Case n. 1: A boy, aged 3 years 4 months, was admitted for acute respiratory disease. His main abnormalities included rigid facial expression, blepharophimosis, puckered lips, short neck, pectus carinatum, acetabular dysplasia with coxa vara, platyspondyly and marked growth retardation. There was a continuous muscle fiber activity at rest, with abnormal discharges originating in the muscle component of the neuromuscular junction. Blood investigations revealed low values of IgA. The child died at 4 years. Case n. 2: The sister of case n. 1 was examined at 14 months of age. She presented milder facies abnormalities, difficulties of gait because of stiff hips, muscular hypertrophy, coxa vara and growth retardation. X-rays showed skeletal abnormalities and the electromyogram was similar to those of her brother. She had dislocation of her optic lens. CONCLUSION. These 2 sibs have the characteristic manifestations of Schwartz-Jampel syndrome. Parental consanguinity was also present. The IgA deficiency observed in case n. 1 and the lens dislocation in case n. 2 have both been occasionally reported in this syndrome.     

Association of Takayasu arteritis, Crohn disease and pregnancy]

The authors report a case of a pregnant woman with Takayasu's arteritis and Crohn's disease. The course of pregnancy was uneventful. It is suggested that these two inflammatory diseases may be immunologically related. A brief review of the literature confirm that fetal and maternal prognosis are generally excellent.     

Experimental models of hypersensitivity pneumonitis.

Experimental models of hypersensitivity pneumonitis are important tools for the study of the pathogenesis of this disease. In this paper we review the characteristics of the main animal models developed until now. The HP models in rats seem to be particularly appropriate for studying pigeon fancier's disease and the HP induced by chemicals, as well as for studying mediators of acute lesions induced by immunocomplexes. However, the HP models developed in rats are of less value in the evaluation of other aspects of the pathogenesis of this clinical entity in humans. The murine models of HP offer several advantages: the ease and simplicity of intranasal administration, the ability to produce acute and subacute pulmonary lesions similar to those found in humans, the possibility of reproducing lesions similar to those of nonaffected exposed subjects and the possibility of pharmacologically modulating the process. Their disadvantages lie in the different pulmonary lymphocyte response and the difficulty in reproducing a model of chronic fibrosis. The HP models in rabbits are extraordinarily useful for evaluating the immunological mechanisms through which subjects repeatedly exposed to the antigen do not develop clinical manifestations. However, the rabbit has several immunological differences when compared to humans, and the effect of some immunomodulators in this animal is different. The models of HP in guinea-pigs have as advantages the ease in handling the animals, the possibility of pharmacological manipulation, and the ability to induce an acute phase that is very similar to that observed in humans. The drawback, however, is the low lymphocyte response and the striking eosinophilic reaction that contrast with the bronchoalveolar data found in HP in humans. In conclusion, there is no ideal model to reproduce all the findings observed in humans, suggesting that the experimental animal and the method of developing HP should be selected on the basis of concrete research aims.     

Skin injury following contact with a complex amine

Eight patients with skin damage due to contact with an amine are described. The material is used in the potash industry under the commercial name of Armine to prevent bosselation. Although it is considered to be a strong base, no deep burns were encountered. The reaction to this material initially resembled a dermatitis; later the wound developed the typical appearance of a burn. In addition to the common conservative treatment, antihistamine drugs were used. When a true allergic reaction was suspected steroids were added to the regimen.     

Cardiac surgery for patients aged 65 years and older: a long term survival analysis.

Between January 1973 and December 1984, 562 patients aged greater than or equal to 65 had cardiac surgery at Papworth Hospital. Most had mitral or aortic valve replacements (coronary artery bypass grafting was not introduced for this age group at Papworth until 1977). The overall operative mortality, defined as death within thirty days or death before leaving hospital, was 7.3%. There were no early deaths in patients undergoing coronary artery bypass grafting surgery. Questionnaires sent to general practitioners in East Anglia traced 86.0% of the patients who survived to leave hospital. The longer term survival rates for all patients were 88.0%. (95% confidence interval (CI) 85 to 91) at one year and 74.4% (95% CI 69 to 79) at five years. The rates for those patients who survived the initial few months were 96.3% (95% CI 94 to 98) at one year and 81.5% (95% CI 77 to 86) at five years and these rates were no different from those in the general population aged greater than or equal to 65.     

CT of the urinary tract after abdominoperineal resection for rectal carcinoma.

Computed tomography (CT) after abdominoperineal (AP) resection for rectal carcinoma is a routine procedure for the detection of recurrent tumor and distal metastases. We reviewed sequential CT scans after AP resection in 52 patients in order to see whether the urinary tract as a neighboring organ is involved in recurrent malignancy. Bladder displacement in itself was not associated with hydronephrosis. Such hydronephrosis developed, however, in 14 patients--13 with a presacral mass, and one with retroperitoneal lymphadenopathy. In 23 of the 52 patients a presacral mass appeared, either fibrosis, infection, or recurrence. Severe hydronephrosis was found only with malignancy. We suggest that marked hydronephrosis associated with a presacral mass after AP resection is an indirect sign of malignancy.     

Radiculopathy following intrathecal baclofen pump implantation]

INTRODUCTION: Intrathecally delivered baclofen has been used as a treatment for severe spasticity since 1984. After a successful intrathecal baclofen trial, a programmable drug delivery system was implanted. Few early complications such as infection or hematoma are observed after this surgery. OBJECTIVE: To describe an unusual and unknown complication of intrathecal baclofen therapy. METHOD: We report 2 cases of complications of intrathecal baclofen therapy, radiculalgy, that appeared early after pump implantation. The clinical symptoms and computed tomography (CT) results are described. RESULTS: The first patient described pain, which evoked left S1 radiculopathic features. The second had left L5 radiculopathic involvement. The mean pain level was estimated on a 10-point visual analog scale as 7.5 (range 4-9). Lumbar CT scan showed a conflict between the symptomatic root and the catheter and eliminated other causes of the symptoms. Treatment with analgesic drugs was successful in 1 patient. The other presented with proximal disconnection of the catheter, which led to surgical replacement of the catheter. The pain disappeared after this surgery. CONCLUSION: Intrathecal baclofen therapy with a subcutaneously implanted progammable pump can be complicated by radiculalgy secondary to a conflict between the catheter and symptomatic root. The diagnosis is made by CT lumbar scan. If medical treatment is not sufficient, surgery could be proposed to replace the catheter.     

Immunoglobulin replacement therapy contribution in agammaglobulinemia: 10 case reports]

Intravenous immunoglobulin (Ig IV) has been used for many years in the treatment of primary antibody deficiencies. We performed a retrospective study of the clinical features and outcome of agammaglobulinemia children who received prolonged Ig IV infusions. PATIENTS AND METHODS: Ten children, 9 male et 1 female, with agammaglobulinemia diagnosis were studied for the clinical manifestations before and during the Ig IV replacement therapy. Serum Ig levels were quantified by nephelometry. Circulating B ant T cells were counted by immunofluorescence labeling by monoclonal antibodies. T-cell functions were assessed by using mitogen and antigen -induced T-cell proliferation assays in vitro. Patients clinical status was evaluated respectively, before initiation and at every moment (when patients had an infection) of the replacement therapy. RESULTS: Ig IV therapy was performed for 866 cumulated months, median 108 months. The median Ig IV doses administered to the 10 patients was 500 mg/kg/month. Residual serum IgG mean level was 3,9 g/L. All patients had 99 bacterial infections/year before Ig IV, mainly respiratory tract infections (48,5%), and 4 patients had bronchiectasis before Ig replacement therapy. The number of infection/year fall to 25 during IgIV replacement, and the infection/patient/year rate decreases significantly. One patient developed an Echovirus 27 meningoencephalitis during this treatment. CONCLUSION: Ig IV therapy with residual IgG mean level of 3,9 g/l reduced significantly the rate of bacterial infections. The use of specific antibiotherapy and respiratory kinesitherapy led to a lower rate of respiratory tract infections, and the stabilisation of the bronchiectasis. However this intravenous replacement therapy does not protect against viral meningoencephalitis.     

Relationship of knee joint proprioception to pain and disability in individuals with knee osteoarthritis.

Proprioception plays an integral role in neuromotor control of the knee joint and deficits in knee joint proprioception are well documented in individuals with knee osteoarthritis (OA). However, the functional relevance of these deficits is not clear. This cross-sectional study evaluated the relationship between knee joint proprioception and pain and disability in a large cohort of individuals with knee OA. Two hundred and twenty participants (145 F, 75 M) with symptomatic knee OA were recruited from the community. Five non-weight bearing active tests with ipsilateral limb matching responses were performed at 20 degrees and 40 degrees flexion to measure knee joint position sense. Pain and disability were assessed by self-reported questionnaires and objective measures of balance and gait. Results showed little association between knee joint position sense variables and measures of pain and disability (r values <0.24, most p>0.05). When comparing participants with the worst and best joint position sense, no significant differences in pain and disability could be found (p>0.05). While our study design does not allow causality to be established, these results suggest that deficits in joint position sense may be due to factors other than pain and that deficits are not large enough to impact upon disability.