[Acute bilateral shoulder pain as initial presentation of ochronosis: a case report and literature review]. / Akute Schulterschmerzen beidseits als Anfangssymptom einer Ochronose: Fallbericht und Literaturübersicht.

Ochronosis is a rare genetic metabolic disorder resulting from a constitutional lack of homogentisic acid oxidase and subsequent accumulation of its substrate causing destruction of connective tissues with various systemic abnormalities. Typical musculoskeletal symptoms are arthropathy and low back pain and stiffness. Arthropathy primarily affects knee and hip joints, but shoulders are less frequently involved. We describe a case of ochronosis initially presented as acute bilateral shoulder pain. Review of literature with respect to the etiology, natural course of the disease, differential diagnosis and management was made.

Retrospective study of juvenile spondylarthropathies in Croatia over the last 11 years.

OBJECTIVES: To determine the frequency of juvenile spondylarthropathies (JSpA) among other rheumatic diseases in a pediatric clinic population in an 11-year period in Croatia and to review their clinical, epidemiological, radiographic and laboratory. METHODS: Of the 1264 patients with rheumatic diseases seen at a pediatric rheumatology center, 103 (8.2%) were diagnosed as having JSpA (56 boys, mean age 13.1 years, range 4.4-17.8 years), following the strict criteria of the European Spondylarthropathy Study Group. Medical history, clinical laboratory and imaging data of the 103 patients with JSpA were analyzed. RESULTS: Eighty-two (79.6%) patients had undifferentiated spondylarthropathy, 6 (5.8%) patients had reactive arthritis/Reiter's disease, 6 (5.8%) had arthritis associated with inflammatory bowel disease, 5 (4.9%) had psoriatic arthritis, and only 4 (3.9%) patients had ankylosing spondylitis. The most common symptoms at the disease onset in patients with JSpA were peripheral and axial arthritis, followed by enthesitis. A significant increase in the number of patients with axial arthritis, peripheral arthritis, ocular symptoms and enthesitis was found during mean period of follow-up of 6.45 years. HLA-B27 was present in 78 (75.7%) patients. CONCLUSION: In our hospital population the frequency of JSpA among other rheumatic disease was 8.2%. The disease was equally distributed among male and female patients, with onset around the age of 13 years. Most of the patients were diagnosed with undifferentiated spondylarthropathy.

Patients' understanding of disease status and treatment plan at initial hematopoietic stem cell transplantation consultation.

Patients referred for hematopoietic stem cell transplantation (HSCT) often have knowledge deficits about their disease and overestimate their prognosis making it difficult initially to discuss potentially life-threatening transplant options. To determine patients' understanding of their disease and the adequacy of a 3-h consultation at our center, we developed a survey that measured perceived knowledge deficits of disease, prognosis, and emotional status before and after their initial consultation. Ninety nine consecutive eligible patients completed the survey. Although 76.7% claimed adequate information about their disease pre-HCST visit, 51.5 and 41.4% respectively lacked knowledge about their 1-year prognosis with and without any therapy. After the visit, 66.7% of the patients had obtained enough information to make an informed decision regarding HSCT versus 23.2% pre-visit, and a significant reduction in the need for further information was reported by 53.5% of patients (P<0.001). Patients were not overwhelmed or confused by the visit and there was a small but significant decrease in negative affect. Measures to increase patients understanding of their disease and its prognosis pre-HSCT consultation visit are warranted; however, a 3-h consultation visit provides the majority of patients with sufficient information to make an informed decision about the risk/benefit ratio of HSCT.

Syndrome of short stature, mental deficiency, microcephaly, ectodermal dysplasia, and multiple skeletal anomalies.

We report on two brothers with mental deficiency, short stature of prenatal onset, microcephaly, alopecia/sparse hair, follicular ichthyosis, multiple skeletal anomalies, and recurrent respiratory infections. The younger brother has celiac disease, cryptorchidism, inguinal herniae, and hypohidrosis, while the older brother has hidrotic ectodermal dysplasia, juvenile autoimmune thyroiditis, hypolacrimation, photophobia, and optic atrophy. Striking resemblance exists between our patients and those previously reported by Schinzel ¿1980: Helv Paediatr Acta 35:243-251 and van Gelderen ¿1982: Am J Med Genet 13:383-387. The fact that boys are born to young and healthy nonconsanguineous parents and there are no other affected relatives suggests autosomal or X-linked recessive inheritance or parental germinal mosaicism for a dominant mutation.

Occupational physical demands and hip osteoarthritis.

The authors investigated the influence of physical strain at work on radiological signs of hip osteoarthritis. The study included 295 men and 298 women aged over 45 from an urban area who were classified in four groups according to physical demands of their occupation. The evaluation included clinical and radiological signs of hip osteoarthritis. The association between hip osteoarthritis and occupation was analysed using logistic regression. Though not significantly, radiological signs of hip osteoarthritis were common in subjects who worked in a standing position (odds 1.45 for men, 1.50 for women). Clinical signs of osteoarthritis in women were significantly associated with performance in a standing position (odds 3.00), whereas in men the association was more significant for jobs with high physical strain (odds 2.19). There was a sustained trend toward an increase in health risk with years of work in all job categories. Occupation did not appear to influence the development of radiological hiposteoarthritis, but the authors did establish association between clinical signs of hip osteoarthritis and work.

[Trichorhinophalangeal syndrome]. / Triho-rino-falangalni sindrom.

A girl with tricho-rhino-phalangeal syndrome is described. Besides clinical and radiologic symptoms of type I of this syndrome (short stature, pear-shaped nose, prominent and elongated philtrum, small carious teeth, thin and sparse hair, badly shaped laterally protruding ears, deep voice, cone-shaped phalangeal epiphyses as well as shortening of metacarpal and metatarsal bones) the patient exhibits a group of abnormalities characteristic for type II (broad nasal bridge, thicker septum, laterally postured nostrils, heavier eyebrows, mild deafness and epilepsy). The girl also has the symptoms of primary hypothyroidism because of the ectopic thyroid gland, the first recorded instance up to now, so it is probably a coincidence.

[Metabolic bone disease in a female patient with gluten enteropathy]. / Metabolicka bolest kostiju u bolesnice s glutenskom enteropatijom.

A 41-year old female patient with metabolic bone disease is presented. The disease was caused by malabsorption which developed as a result of gluten induced enteropathy. The diagnosis was confirmed by histological finding of the small intestine mucosa and bones. Following gluten-free diet, calcitriol and calcium tablets, the patient started to move independently and the bone mineralisation improved.

[Embolization therapy of a femoral hemangiolipoma with intra-osseous invasion]. / Embolisationstherapie eines Oberschenkelhämangiolipoms mit intraossaler Ausdehnung.

The paper presents the case of a gigantic inoperable hemangiolipoma of the right upper leg with infiltration into femur. Performed embolization therapy resulted in satisfactory subjective and objective improvement.

[Transient osteoporosis of the hip in pregnancy. Successful treatment with calcitonin: a case report]. / Schwangerschaftsassoziierte transiente Osteoporose der Hüfte. Erfolgreiche Behandlung mit Kalzitonin.

Transient osteoporosis of the hip is a rare clinical disorder of unknown etiology, characterized by hip pain and functional disability that resolves spontaneously in 6-24 months. Despite a benign prognosis, the long clinical course causes prolonged disability. We report on a case of transient osteoporosis of the hip during pregnancy that was rapidly resolved with the use of calcitonin. An accurate diagnosis was made 2 months after the onset of symptoms (4 weeks postpartum) based on findings in the form of bone marrow edema of the right hip by magnetic resonance imaging. The patient received calcitonin for 8 weeks and the beneficial effect was observed after 3 weeks of therapy with full resolution of symptoms after 8 weeks of therapy (4 months after onset of symptoms). We suggest that the use of calcitonin may be considered as a therapeutic intervention to shorten the disease duration.

[Purulent osteomyelitis with epidural abcess in an adult over a decade after cervical spine injury]. / Eiternde Osteomyelitis mit Epiduralabszess bei einem Erwachsenen mehr als ein Jahrzehnt nach zervikaler Wirbelsäulenverletzung.

Cervical osteomyelitis and epidural abscess are rare and potentially fatal conditions with severe neurological manifestations. Changes on plain radiography and computed tomography are non-specific, while contrast enhanced magnetic resonance imaging shows high sensitivity and specificity in establishing early diagnosis.

Clinical and radiological features of atlantoaxial joints in rheumatoid arthritis.

Atlantoaxial (AA) instability is frequent radiological finding in patients with rheumatoid arthritis (RA). Mostly no serious neurological disorders are expected in such patients. The purpose of the study was to assess the sagittal spinal canal diameter according to Steel's rule of third and its relationship to clinical symptoms. Radiological and clinical evaluation was performed in 65 in-patients with RA. Fifty four patients complained of neck pain, 39 had vertebrobasilar symptoms, and 25 mild neurological disorders. Hyperreflexy tendon responses were registered in 16 patients. Only 1 patient had extensor plantar response. Forward AA dislocation was verified in 28 (43%) cases with a mean value of 8.3mm (4-17 mm). Still free space for spinal cord in spinal canal was obtained in 62 (95%) of patients, which can explain such a low incidence of serious neurological disorders. Our results suggest an association among duration of disease, atlantodental distance, and sagittal spinal canal diameter. We consider that it is important to detect early the most jeopardized patients on the basis of radiological analysis at C1 level according to Steel's rule of third and recognize when rising dbl quote, left (low)safe zone" has exceeded and enters the area of impending spinal cord compression.

Radiographic osteoarthritis in the elderly population of Zagreb: distribution, correlates, and the pattern of joint involvement.

AIM: To determine the prevalence of radiographic osteoarthritis on five joint groups in an urban population sample of 306 women and 304 men over the age of 45 and to assess the influence of some risk factors on osteoarthritis. The validity of concept of generalized osteoarthritis was also examined by analyzing the association of osteoarthritis on different joint sites. METHODS: Radiographs of both hands, both knees, and the right hip were taken. Osteoarthritic changes on distal interphalangeal, proximal interphalangeal, first carpometacarpal joints, knees, and hip were graded according to the Kellgren-Lawrence scale. The association among osteoarthritis on different joint sites was analyzed using logistic regression. Subjects were tested for age, duration of postmenopause, anthropometric measures, blood pressure, and smoking as risk factors for osteoarthritis. RESULTS: Hip was the most frequent site of osteoarthritis in men (27.3%), whereas distal interphalangeal joints predominated in women (43.5%). Polyarticular osteoarthritis (+/-3 joints) was present in 10.8% women and 5.9% men. There was a significant influence of age on single joint osteoarthritis, but not on multiple joint involvement. Obesity was significantly correlated with knee osteoarthritis in women and with osteoarthritis on distal interphalangeal joints in men. CONCLUSIONS. In our population sample, the prevalence of knee osteoarthritis was lower and the prevalence of hip osteoarthritis higher than reported for most of other populations. The tendency towards polyarticular osteoarthritis that is more common than would be expected by age, suggests a subset of generalized osteoarthritis.

A calcium-channel blocker, amlodipine, attenuates insulin antinatriuresis but does not modulate insulin-mediated attenuation of cardiovascular reactivity in healthy man.

BACKGROUND: Insulin exerts an antinatriuretic effect when administered acutely in vivo. Interestingly, insulin fails to reduce sodium excretion in rats receiving verapamil. The present study was undertaken in order to investigate whether the calcium-channel blocker amlodipine attenuates the antinatriuretic effect of insulin in humans. METHODS: Eight healthy lean men (32 +/- 2 years) were investigated on three different occasions; i.e. time-control, insulin infusion alone, and insulin infusion following pretreatment with amlodipine (5 mg x 1 during 10 days). During the experiments renal haemodynamics (insulin and PAH clearances) and segmental tubular sodium handling (sodium and lithium clearances) were investigated. The cardiovascular reactivity was also assessed by a graded noradrenaline infusion at the end of each experiment. RESULTS: Insulin infusion alone was accompanied by a significant 50% reduction in urinary sodium excretion. Following amlodipine pretreatment, euglycaemic insulin infusion was associated with an attenuated antinatriuretic response and the cumulative sodium excretion following 135 min of insulin infusion was significantly higher (24 +/- 4 vs 18 +/- 3 mmol; P < 0.05) as compared to insulin infusion alone. No significant differences in the proximal and distal tubular sodium handling respectively, were seen following CCB pretreatment. The results also show that the doses of noradrenaline required to increase the basal mean arterial blood pressure by 10 mmHg (262 +/- 38 vs 150 +/- 25 ng/kg/min; P < 0.05) and by 20 mmHg (431 +/- 36 vs 250 +/- 38 ng/kg/ min; P < 0.05) respectively, were significantly higher during the insulin infusion than during the time-control experiment. Pretreatment with amlodipine did not further modulate the cardiovascular reactivity. CONCLUSION: Pretreatment with a calcium-channel blocker, amlodipine, attenuates the antinatriuretic effects of insulin leading to a significantly higher cumulative sodium excretion at the end of insulin infusion, which may be of clinical importance. Moreover, insulin attenuates the cardiovascular reactivity to a graded noradrenaline infusion, suggesting that insulin causes vasodilatation in healthy man.

Massive osteolysis in a girl with agenesis of thyroid C cells.

A rare case of massive osteolysis affecting the pelvis of a young girl is presented. The clinical, radiographic, and histopathological features are described in detail. Septicemia complicated the clinical course and the patient eventually died. Histopathological examination of the pelvic lesion revealed massive osteolysis characterized by prominent osteoclastic activity with extensive bone resorption. A thorough post-mortem histological examination of the thyroid gland showed no C cells. This is an interesting observation, since it is known that thyroid C cells are the primary source of calcitonin. Since the main biological effect of calcitonin is to inhibit osteoclastic bone resorption, there is a possibility that massive osteolysis in our case could have been related to the lack of this hormone. There is a clear need for further investigation regarding the role of thyroid C cells and calcitonin in this puzzling disease.

Therapeutic embolization of aneurysmal bone cyst.

Results of therapeutic embolization of aneurysmal bone cysts in five patients are described. Transcatheter arterial embolization was performed with Ivalon and Gelfoam particles and Gianturco coils. The postembolization period was characterized by complete relief of pain and decrease in size of the aneurysmal bone cyst in all patients. In patients whose follow-up was longer than 12 months, sclerosis and recalcification of bone were present. There were no complications.

Early diagnosis of rheumatoid cervical myelopathy.

The purpose of this study was to detect early signs of cervical myelopathy on the basis of clinical finding, radiographs, somatosensory evoked potentials (SSEPs) for n. medianus in 56 patients and transcranial dopler (TCD) for vertebral arteries in 35 patients. Radiological findings, SSEPs, and TCD were registered in neutral and functional scanning positions. Forward AA dislocation was verified in 25 patients with mean value 4.7 mm. The total of 12 (3 in neutral and 9 in functional positions) out of 56 patients had pathological findings of SSEPs for n. medianus. Out of 35 patients 13 (8 in standard imaging position and 5 in rotations) had abnormal values of mean blood flow velocities (MBFV). Movements can provoke neural conduction disturbances through spinal cord and interrupt vertebral arteries blood flow. The early detection of the cervical myelopathy is possible when changing the head position during SSEPs and TCD recordings. On the basis of clinical, x-ray, SSEPs and TCD analyses we suggest that patients with risk of developing myelopathy should be separated.

[Use of pedicled cutaneous groin flaps in distal reconstruction of the upper extremity]. / Zastosowanie uszypulowanego skórno-tluszczowego plata pachwinowego w rekonstrukcjach obwodowej czesci konczyny górnej.

In the years 1981-1997 at the Department of Plastic Surgery Medical Centre for Postsgraduate Education in Warsaw 116 patients were treated surgically using groin flaps and 97 patients using a pedicled cutaneous groin flap. This paper reports the results of the later technique. Reconstructions were performed in 10 female patients aged 18-58 (mean age 37.5 years) and 87 male patients aged 15-67 (mean age 33.8 years). The tissue defects or acquired deformations were caused by: crush injuries (26 cases), scalping injuries (23 cases), rugged injuries (18 cases), avulsion trauma (15 cases), explosion injuries (8 cases) and electric burns (7 cases). Flap size depended upon extent of the tissue defect and the from flaps were 7-26 cm long and 4-12 cm wide. Flap area ranged from 35 to 260 square centimetres. Emergency procedures were performed in 59 patients (61%). Secondary reconstructions were carried out in 38 cases (39%). Operative technique was based on the rules described by McGregor and Jackson. The donor site was sutured primarily tubulizing its basis--as in tube flap. The flap pedicle was cut off during a one stage procedure in 41 patients 21-30 days (mean 23 days) after surgery or during a two-stage procedure in 56 cases. The two-stage procedure consisted of an incision of part of the pedicle after 15-45 days post-op (mean 21 days) followed by a complete dissection after a few days (mean 4 days). In 44 cases the flap required modelling i.e. excision of excessives kin and/or thinning of subcutaneous tissue. The flap healed in 96 patients (99%). Complications at different stages of the treatment were observed in 40 patients (41%). In 3 cases wound ischemia was observed because of too tight suturing. Removal of skin sutures lead to normalization of blood supply. In 7 patients cyanotic skin of the distal part with no significant consequences was observed. In 27 patients (28%) necrosis of the marginal tissues surrounding the operation wound after cutting of the pedicle was noted. Besides supported necrectomy a conservative treatment was also applied by putting dressings soaked with antiseptics and 0.5% neomycine solution on a daily basis. This prolonged treatment by further several weeks. No significant complications were observed at the donor site.