Neonatal osteofibrous dysplasia: a case report

We describe a case of neonatal osteofibrous dysplasia that was diagnosed 3 days after birth. Osteofibrous dysplasia is a fibro-osseous lesion rarely seen in long bones. It is also known as congenital osteitis fibrosa or ossifying fibroma of bones. Although it occurs in children under 10 years of age, it is extremely rare in newborn babies. It must be differentiated from adamantinoma due to their radiological appearance, predilection for tibia and fibula, clinical picture, and certain histological similarities.     

Short term cyclosporin A treatment of Beh?et's disease.

Eleven separate three-month courses of cyclosporin A, an oral solution 10 mg/kg/day, were administered to eight patients with Behçet''s disease with sight-threatening posterior uveitis. It was found to be effective in arresting the inflammatory activity in the eye as well as the mucocutaneous lesions of Behçet''s disease. Improvement in visual acuity was observed within one week of starting therapy. Severe exacerbations in the ocular and mucocutaneous lesions occurred on withdrawal of the drug. At this dosage side effects included hirsutism in all women, and a slight rise of serum bilirubins in two patients and of blood urea in one patient. The latter two conditions responded rapidly to dose adjustment.     

Assessment of changes in regional cerebral blood flow in patients with major depression using the 99mTc-HMPAO single photon emission tomography method

Regional cerebral blood flow was investigated in 14 patients with major depression diagnosed according to the DSM-III-R criteria (six patients with single and eight patients with recurrent episodes) and in ten healthy volunteers. The mean ages of the patients and the controls were 33.5 ± 2.7 and 31.6 ± 2.6 years, respectively. The severity of the depression was assessed using the 17-item Hamilton Depression Scale (mean: 23.2 ± 1.5). None of the patients was under medication. After administration of 500 MBq technetium-99m hexamethylpropylene amine oxime, a single photon emission tomography study was performed and then transaxial, sagittal and coronal slices were obtained. For the semiquantitative analysis of the data, the ratios of the mean counts/pixel to the whole slice were calculated for 24 regions on three consecutive transaxial slices in the orbitomeatal plane. Additionally, left/right and frontal/occipital ratios were calculated. Both sides of the temporal region had a significantly decreased cerebral blood flow (CBF) when compared to the controls. The left/right ratio of the prefrontal region was also significantly lower in the patients than in the controls. The Hamilton score had a negative correlation with blood flow in the anterofrontal and left prefrontal regions. According to our results, regional CBF seems to be decreased in the left prefrontal and in both temporal regions in major depression. The severity of depression is correlated with the reduction in CBF in the regions of the anterofrontal and left prefrontal cortex.     

Evaluation of leukocyte arylsulphatase a, serum interleukin-6 and urinary heparan sulphate following tamoxifen therapy in breast cancer.

Leukocyte arylsulphatase A (AS-A) was shown to be significantly high in newly-diagnosed breast cancer patients. Previous reports imply a connection between serum interleukin-6 (IL-6) and breast cancer, possibly through a modulation of enzymes involved in estrogen synthesis. Abnormal distribution of heparan sulphate proteoglycans (HSPGs) in malignant breast epithelial cells suggests that they play a key role in the regulation of cell growth. Estradiol is believed to be effective in modulating glycosaminoglycans (GAGs) and their depolymerizing enzymes. Therefore, in this study, attempts were made to evaluate the activity of leukocyte arylsulphatase A, serum interleukin-6, urinary GAGs and heparan sulphate (HS) in response to tamoxifen (TAM) therapy in mastectomised breast cancer patients. Thirty-four patients (aged 30-82 years) were administered TAM (20 mg twice daily). Blood and urine samples of each patient were collected three times (at the beginning, and in third and sixth month of TAM therapy), and biochemical parameters were measured. There was no difference between baseline leukocyte AS-A activity and that measured after three months. At the end of six months, enzyme activity was significantly higher than the former values (p=0.022), but within the reference intervals reported in the literature. Although this increase might imply a normalization, the duration of TAM therapy is not long enough to make a decision about either regression or aggravation of the disease. TAM did not have any effect on serum IL-6, urinary HS and GAG levels which may be due to insensitivity of these variables to TAM during the short period of therapy. Both urinary GAG and HS levels measured at sixth month exhibited a positive correlation with the baseline level of leukocyte AS-A (p=0.005 and 0.009, respectively), suggesting that positive responses to the drug might be seen in patients with low AS-A activity.     

Season of birth and fluctuating asymmetry.

Fluctuating asymmetry (FA) refers to random, small deviations from perfect bilateral symmetry in morphological traits. These minor deviations from the ideal phenotype reflect environmental and genetic perturbations experienced during ontogeny. FA has been associated with negative health outcomes and many developmental disorders in humans. The prevalence of developmental disorders and adult health vary according to the month of birth, suggesting that seasonal stressors may leave enduring signs in the adult body, marked by high FA. The current study examined the relationship between FA and birth season. Data were collected for 205 males and females (average age = 20.39 years) on FA of 10 bilateral traits (second, third, fourth, and fifth digit length, palm height, wrist diameter, elbow width, ear height, foot breadth, and ankle circumference). Additional relationships were also investigated among FA, testosterone (T), and birth order. Results indicate that ear FA was lower for fall births compared to winter births in males. In females, palm FA was lower for fall births compared to those of the spring. FA of the digits was positively associated with T in males. Average FA, excluding the digits, decreased as the number of maternal siblings increased for both sexes. T concentrations in males were positively associated with the number of younger brothers. Our results generally confirm previous research on seasonal variation in adult longevity and neurological and psychiatric disorders, suggesting that winter and spring births are at risk for asymmetric developmental trajectory.     

Sequence analysis of rpoB mutations in rifampin-resistant clinical Mycobacterium tuberculosis isolates from Turkey

Drug-resistant tuberculosis is a serious problem throughout the world. Resistance to Rifampicin (RIF) is mainly caused by the mutations in the rpoB gene coding the beta-subunit of RNA polymerase. In this study, we aimed to detect the distribution of rpoB gene mutations in 80 RIF-resistant clinical Mycobacterium tuberculosis (MTB) isolates from Turkey. The rpoB gene was amplified by PCR and mutations leading to RIF resistance were determined by automated sequence analysis. A total of 72 of the 80 isolates (90%) were found to carry mutations in the amplified region, whereas eight isolates (10%) carried no mutations. Overall, 24 different missense mutations affecting 14 codons, and two deletion mutants were identified. Nine new mutations, six in the hot-spot region and three outside this region, were found. The codon numbers of the most frequently encountered mutations were 531 (51.4%), 526 (18.1%), 516 (13.9%), and 513 (12.5%). As a result, 90% of the RIF-resistant MTB isolates from the Turkish patients were found to carry a mutation in the rpoB gene, Ser531Leu being the most frequent one. Although molecular methods identify mutations leading to RIF resistance very quickly, results of the antimycobacterial susceptibility tests must be taken into consideration for the patients carrying no mutations in this region.     

Affective temperaments in clinically-well subjects in Turkey: initial psychometric data on the TEMPS-A

BACKGROUND: This is a first attempt to evaluate the reliability and factor structure replicability of the Temperament Evaluation of Memphis, Pisa, Paris and San Diego Autoquestionnaire (TEMPS-A) in its Turkish Version. The questionnaire is a self-report 110-item measure that postulates five affective temperaments-the depressive, cyclothymic, irritable, hyperthymic, and anxious-which embody both strengths and liabilities along affective lines. METHODS: The questionnaire was administered to 658 clinically-well subjects in a Turkish university circle. We undertook item analysis and test-retest reliability. We then examined internal consistency through factor analysis with PCA rotation. RESULTS: We found good to excellent test-retest reliability (0.73-0.91), and internal consistency (0.77-0.85). We deleted 10 items with factor loading <0.20 for their own subscales, resulting in a questionnaire with 99 items. Despite considerable overlap between depressive and cognitive anxiety traits, a distinct "nervous"-anxious factor emerged as well, and the hypothesized (original English) 5-factor structure of the TEMPS-A was supported. Cut-offs for each temperament were based on z-scores higher than +2S.D. Dominant irritable (3.7%), nervous-anxious (3.7%) and depressive (3.1%) temperaments were the most common in this population, whereas dominant cyclothymic (1.7%) and hyperthymic (1.2%) temperaments were relatively uncommon. These temperaments tended to lose their intensity with age. As expected, women scored significantly higher on the nervous-anxious, and men on the hyperthymic temperaments. LIMITATIONS: The sample was composed of younger subjects with higher education than the general population of Turkey. Although the distribution of the scores for each of the temperaments deviated somewhat from normal curves, for heuristic reasons we did attempt to provide prevalence rates based on z-scores. CONCLUSION: In this preliminary version of the TEMPS-A, we have retained 100 (of the original 110) traits loading >0.20. Some deleted items referred to sleep, others appeared socially desirability traits in the Turkish culture endorsed by many subjects. Nonetheless, item analyses within each factor revealed traits indicative of personal assets (specific to each temperament) along with those which might represent vulnerability to affective illness. This is in line with the hypothesized original theoretical framework of the senior authors. Even in this "first pass," in its Turkish version the TEMPS-A is a reliable and valid instrument. Further refinement of the instrument will require the study of a nationally representative sample in Turkey.     

The role of cartilage canals in endochondral and perichondral bone formation: are there similarities between these two processes?

We investigated the development of cartilage canals to clarify their function in the process of bone formation. Cartilage canals are tubes containing vessels that are found in the hyaline cartilage prior to the formation of a secondary ossification centre (SOC). Their exact role is still controversial and it is unclear whether they contribute to endochondral bone formation when an SOC appears. We examined the cartilage canals of the chicken femur in different developmental stages (E20, D2, 5, 7, 8, 10 and 13). To obtain a detailed picture of the cellular and molecular events within and around the canals the femur was investigated by means of three-dimensional reconstruction, light microscopy, electron microscopy, histochemistry and immunohistochemistry [vascular endothelial growth factor (VEGF), type I and II collagen]. An SOC was visible for the first time on the last embryonic day (E20). Cartilage canals were an extension of the vascularized perichondrium and its mesenchymal stem cell layers into the hyaline cartilage. The canals formed a complex network within the epiphysis and some of them penetrated into the SOC were they ended blind. The growth of the canals into the SOC was promoted by VEGF. As the development progressed the SOC increased in size and adjacent canals were incorporated into it. The canals contained chondroclasts, which opened the lacunae of hypertrophic chondrocytes, and this was followed by invasion of mesenchymal cells into the empty lacunae and formation of an osteoid layer. In older stages this layer mineralized and increased in thickness by addition of further cells. Outside the SOC cartilage canals are surrounded by osteoid, which is formed by the process of perichondral bone formation. We conclude that cartilage canals contribute to both perichondral and endochondral bone formation and that osteoblasts have the same origin in both processes.     

Long-term use and tolerability of cyclooxygenase-2 inhibitors in patients with analgesic intolerance.

BACKGROUND: Cyclooxygenase-2 (COX-2) inhibitors are reported to be well tolerated in patients with analgesic intolerance (AI). However, limited data are available about the long-term tolerability of these drugs. OBJECTIVE: To determine the long-term tolerability of COX-2 inhibitors in patients with Al. METHODS: Patients with AI who previously underwent single-masked, placebo-controlled oral provocation tests and were found to tolerate nimesulide, meloxicam, rofecoxib, or celecoxib were interviewed regarding the long-term use and tolerability of these drugs. RESULTS: Of 87 patients, 61 (70%) had used the recommended COX-2 inhibitor(s). Of the 61 users, 54 (89%) tolerated the drug(s) well and 7 (11%) reported adverse events. Three patients reporting adverse events were rechallenged with the responsible COX-2 inhibitor, and their results were found to be negative. CONCLUSIONS: Long-term use of COX-2 inhibitors was tolerated well by most patients with AI, and placebo-controlled oral provocation tests, as a single test, seemed to predict tolerability. Furthermore, self-reported positive reactions in the long-term should also be confirmed with rechallenge tests for definite diagnosis.