BONE FRACTURES IN LIVER TRANSPLANT PATIENTS

Atraumatic bone fractures are a frequent complication in orthotopicliver transplantation (OLT). A retrospective study of 91 adultOLT patients was carried out to detect the prevalence of bonefractures, and to isolate predictive factors for their development. After OLT 22 patients (24%) developed 56 atraumatic bone fractures.All fractures occurred within the first 13 months followingOLT. No predictive pre- or post-OLT risk factors for the developmentof bone fractures were identified. KEY WORDS: Bone disease, Osteoporosis, Vertebral fractures, Organ transplantation     

THE EFFECT OF SYSTEMIC LUPUS ERYTHEMATOSUS AND LONG-TERM STEROID THERAPY ON BONE MASS IN PRE-MENOPAUSAL WOMEN

The aim of our study was to assess bone mineral density (BMD)in pre-menopausal women with systemic lupus erythematosus (SLE)and the influence of disease activity and use of corticosteroids.Lumbar and femoral BMD were measured in 43 patients with SLE(28 on regular steroid therapy, 15 with recent onset, non-treated)and compared with 43 healthy women matched for age. In addition,21 SLE patients treated with corticosteroids were followed-upwith a mean of 36.6±12.7 months. BMD was significantlylower in SLE patients with prednisone doses     

Visual problems in people with severe mental handicap

The incidence of visual problems in people with mental handicaps is very high. Nine severely mentally handicapped patients were studied. Several objective and subjective oprometric tests were performed. The results showed the presence of different kinds of visual problems that were compensated for by optical methods. The subjects showed a general change in their behaviour. It is essential to give optometric care to such people.     

Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf-mutism

Summary Keratoderma hereditarium mutilans, or Vohwinkel's syndrome, is a rare cutaneous disorder which is characterized by thickening of the palms, soles and dorsa of the hands and feet, and by ainhum-like constrictions of the fingers. We report a clinically typical case of Vohwinkel's syndrome in a 28-year-old, deaf-mute, woman. The patient presented with keratotic palms and soles which had a 'honeycomb' appearance, starfish-like keratoses on the dorsa of the hands, and pseudoainhum of the digits. Osteoporotic changes were present distal to the constricting bands. Successful treatment with retinoids has been reported recently, and the hyperkeratosis and constricting bands in our patient improved on therapy with etretinate.     

AETIOLOGY AND PRESENTING SYMPTOMS IN MALE OSTEOPOROSIS

In order to analyse the clinical characteristics and the principalcauses of osteoporosis in men, 81 osteoporotic males from anout-patient rheumatology department were studied. Bone massassessment, automated biochemical profile and biochemical markersof bone turnover were performed in all patients, and hormonalmeasurements were taken when a specific aetiology was not readilyapparent. Sixty-three men (78%) had secondary osteoporosis and18 (22%) primary osteoporosis. Secondary causes of osteoporosisincluded hypogonadism (12 patients), corticosteroid therapy(10 patients) and alcoholism (10 patients); the remaining patientshad various causes of osteoporosis. Eighteen patients had primaryosteoporosis, eight of them with associated hypercalciuria.Normocalciuric patients showed lower 25-hydroxyvitamin D and1-25-hydroxyvitamin D levels than the control group, whereashypercalciuric patients had lower parathyroid hormone and renalthreshold for phosphate excretion. In 69 patients (85%), backpain was the chief complaint. Forty-five of these 69 patients(65%) had chronic back pain and 24 (35%) had subacute episodes.Fifty per cent of the patients with chronic back pain had vertebralfractures. Both patients with and without chronic back painwere found to have a similar number of vertebral fractures.In conclusion, male osteoporosis is frequently associated withmajor risk factors. Patients with primary osteoporosis may haveassociated hypercalciuria or decreased vitamin D levels. However,not all the patients for whom back pain was the chief complaintwere found to have vertebral fractures. KEY WORDS: Alcohol, Hypogonadism, Hypercalciuria, Back pain, Idiopathic osteoporosis     

SACRAL STRESS FRACTURE AFTER LIVER TRANSPLANTATION

Sacral insufficiency fractures have been related to osteoporosisand steroid therapy, however only one case has been reportedfollowing liver transplantation. We describe three patientswho developed insufficiency fractures of the sacrum followingliver transplantation, these fractures could be overlooked orconfused with inflammatory processes involving the sacrum. KEY WORDS: Sacrum, Insufficiency fractures, Transplant complications     

Comparison of physical activity and sedentary behaviours between young haemophilia A patients and healthy adolescents

Summary. In recent studies, adolescent haemophilia A patients and healthy adolescents have been encouraged to participate in physical activity (PA) based on its many established health benefits. However, none of the studies to date has used objective measures of PA and sedentary behaviour. The aims of the current study included: (i) to determine the amount and intensity of habitual PA among haemophilia A and healthy adolescents, and in haemophilia A patients with and without bleeding episodes in the previous year, and (ii) to identify the type and determine the time spent in sedentary activities in which both groups participate to obtain a broadened view of their daily activities. A total of 41 adolescent haemophiliacs and 25 healthy adolescents, between the ages of 8 and 18 years, participated in this cross‐sectional study. A triaxial accelerometer was used to measure PA and the Adolescent Sedentary Activity Questionnaire to assess sedentary behaviours among members of both groups. Adolescent haemophilia A patients showed a higher daily mean time engaged in light, moderate and moderate‐to‐vigorous PAs relative to their healthy counterparts (P < 0.001). Patients who had experienced bleeding episodes during the previous year also spent more time participating in vigorous PAs than healthy adolescents (P = 0.002). With regard to sedentary behaviours, healthy adolescents spent more time listening to music than haemophilia A adolescents (P = 0.003), whereas haemophilia A adolescents spent more time watching TV (P < 0.001) and playing videogames (P = 0.003) than healthy counterparts. Findings suggest that increased participation in moderate intensity PAs and reduced sedentary behaviours should be recommended among adolescents with haemophilia A.     

PSEUDODIPHALLIA

Ten years ago, a 17-year-old high school student noticed a small growth in the prepuce near the free edge; this elevation (Fig. 1) began to grow progressively until it was 0.5 cm long and 0.3 cm wide (Fig. 2). The base of this tumor was not pediculated, it was lighter in color than the skin around it, and its consistency was half soft.
The upper part of the tumor was covered completely by the skin of the penis. The patient stated that he had never felt pain and that the tumor had not changed in size. He felt a slight sensation of tension in this area only when he had not urinated for many hours and his bladder was full. He also had this sensation in the normal penis.
A careful examination showed that the testes, scrotum, and penis were normal, without hypospadias. On rectal examination, the prostate and seminal vesical were found to be normal. Neither the anus nor the rectum showed any change.
Secretory urographic studies showed two normal kidneys that were somewhat descended and rotated. Neither the lumbosacral region of the spinal column nor the pubis was abnormal. The diphallus was extirpated while the patient was under local anesthesia, and we noticed that there was no connection between the tumor (diphallus) and the normal urethra.
Histologic Examination : The surgical extirpation was divided into several 5-mm portions. On macroscopic examination, it had a cystic appearance, with creamy contents.
The first portions revealed the presence of a pavement and horny (keratinous) epithelium (Fig 3), with a dilated duct beneath It; this duct was covered by transitional mucus, similar to that covering the normal urethra (Fig. 4).
In the last pieces cut, at low and high magnifications, a urethral cavity was seen that was covered by a pavement epithelium; under this epithelium, numerous groups of erectile fibers were found (Fig. 5).     

High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation

BÉCANE, H.–M., et al. : High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation. We studied 54 living relatives from a large French kindred, among which 17 members presented with a cardiomyopathy transmitted on an autosomal dominant mode. Five of these individuals had clinical manifestations of muscle disease phenotypically consistent with Emery-Dreifuss muscular dystrophy. Genetic analysis of this kindred had demonstrated a nonsense mutation in the LMNA gene located on chromosome 1q11–q23. This gene encodes lamins A and C, proteins of the nuclear lamina located on the inner face of the nuclear envelope. We retrospectively determined the cause of death of 15 deceased family members, 8 of whom had died suddenly, 2 as a first and single manifestation of the disease. The six other cases had histories of arrhythmias and left ventricular dysfunction before dying suddenly, and three of them died despite the prior implantation of a permanent pacemaker. The mean age of onset of cardiac symptoms among affected living family members was 33 years (range 15–47 years), and the first symptoms were due to marked atrioventricular conduction defects or sinus dysfunction, requiring the implantation of permanent pacemakers in seven cases. Myocardial dysfunction accompanied by ventricular arrhythmias developed rapidly in the course of the disease and resulted in severe dilated cardiomyopathy requiring cardiac transplantation in three cases. In conclusion, in patients presenting a life-threatening familial or sporadic cardiac restricted phenotype similar to that described here, mutations in the lamins A and C gene should be looked for. In the genotypically affected individuals, cardiological and electrophysiological follow-up should be performed to prevent sudden death that could occur rapidly in the evolution of such disease.