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.     

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.     

Diffuse optical tomography with a priori anatomical information

Diffuse optical tomography (DOT) poses a typical ill-posed inverse problem with a limited number of measurements and inherently low spatial resolution. In this paper, we propose a hierarchical Bayesian approach to improve spatial resolution and quantitative accuracy by using a priori information provided by a secondary high resolution anatomical imaging modality, such as magnetic resonance (MR) or x-ray. In such a dual imaging approach, while the correlation between optical and anatomical images may be high, it is not perfect. For example, a tumour may be present in the optical image, but may not be discernable in the anatomical image. The proposed hierarchical Bayesian approach allows incorporation of partial a priori knowledge about the noise and unknown optical image models, thereby capturing the function-anatomy correlation effectively. We present a computationally efficient iterative algorithm to simultaneously estimate the optical image and the unknown a priori model parameters. Extensive numerical simulations demonstrate that the proposed method avoids undesirable bias towards anatomical prior information and leads to significantly improved spatial resolution and quantitative accuracy.     

Calciphylaxis: A condition mimicking necrotizing vasculitis

Summary A patient with end stage renal disease developed ischaemic skin necrosis and digital gangrene. He had diffuse arterial calcification associated with hyperparathyroidism secondary to renal failure. The patient received inappropriate cyclophosphamide therapy as he had been misdiagnosed as having an inflammatory vasculitis. This clinical picture, previously named calciphylaxis should come into the differential diagnosis of systemic vasculitis in a uraemic patient with hyperparathyroidism.     

Germline mutations of the p53 gene in children with malignant solid tumors

Although somatic mutations of p53 are the most common genetic changes observed to date, the frequency of germline p53 mutations is found to be very low in sporadic malignant tumors. It has been postulated that de novo germline p53 mutations may occur in a substantial population of patients in pediatric age group, who die of their disease and do not propagate the mutation. To determine the frequency and type of p53 germline mutations in pediatric patients, we screened 65 children who were consecutively admitted with primary malignant solid tumors.     

The safety and efficacy of Isola-Galveston instrumentation and arthrodesis in the treatment of neuromuscular spinal deformities

BACKGROUND: Implant systems that realign and stabilize a deformed spine continue to evolve. The purpose of the study of this case series was to determine the safety and effectiveness of a system designed to integrate hook, wire, screw, and post anchors for the treatment of a wide spectrum of neuromuscular disorders associated with pelvic deformity or the potential for deformity. METHODS: Forty-seven consecutive patients who had a spinal deformity that was due to cerebral palsy or an upper motor-neuron cerebral palsy-like disease (thirty-one patients), myelomeningocele (nine), Duchenne muscular dystrophy (four), or other disorders (three) were managed with Isola-Galveston instrumentation and arthrodesis. The average age at the time of the operation was fourteen years and three months (range, five years and four months to twenty-three years and nine months). Eight patients (17 percent) had an additional anterior discectomy and arthrodesis without instrumentation, and three (6 percent) had an additional decancellation egg-shell osteotomy. The forty-seven patients were followed for an average of forty-seven months (range, twenty-four to 100 months). The complications were tabulated to assess the safety of the procedure, and the correction of each deformity was calculated to determine the efficacy. RESULTS: There were no deaths, acute wound infections, or serious neurological problems. Reoperation was necessary in five patients (11 percent). One reoperation was performed because of a delayed deep wound infection; one, because of delayed sterile drainage; and one, for a pseudarthrosis repair. The remaining two reoperations were done for removal of an implant because the cephalad portion had become prominent. In addition to the pseudarthrosis that required a reoperation, there were three possible pseudarthroses that did not require a reoperation (overall prevalence of pseudarthrosis, 9 percent). Postoperative bracing was used for eleven patients (23 percent); it did not influence the rate of pseudarthrosis or possible pseudarthrosis. The average preoperative scoliosis of 70 degrees was corrected to 24 degrees (a 66 percent correction) at the time of the latest follow-up, and the average preoperative pelvic obliquity of 27 degrees was corrected to 5 degrees (an 81 percent correction). A survey of the patients, parents, and caregivers indicated that 96 percent of them were satisfied or very satisfied with the result of the operation. CONCLUSIONS: Isola-Galveston instrumentation seems as safe and effective as other types of instrumentation that have been studied in comparable series in the literature. Isola-Galveston instrumentation is probably more effective for the correction of pelvic obliquity and the maintenance of correction. Only a posterior procedure is used, and the instrumentation appears to decrease the need for an additional anterior approach. Spinal hook, wire, screw, and post anchors have been successfully integrated into one posterior spinal implant system.