The natural history of hereditary multiple exostoses

We established a database of hereditary multiple exostoses for the state of Washington, on the basis of a retrospective review of the medical records and a clinical evaluation of family members, to determine the prevalence, clinical range of expression, and rate of malignant degeneration. The database comprised forty-six kindreds with 113 affected members; all kindreds had at least one member living in the state of Washington. The over-all prevalence was at least one in 50,000. Approximately 10 per cent of the subjects had no family history of multiple exostoses. With the use of twenty-three pedigrees that demonstrated an adequate multigenerational history for determination of penetrance of the gene, we identified one unaffected individual among twenty-six obligate heterozygotes, a rate of penetrance of 96 per cent. There was no evidence for a substantial reduction of penetrance in female subjects. The median age at the time of the diagnosis in the 113 affected individuals was three years (range, birth to twelve years). In a cohort of eighty-four subjects for whom we had complete information, the clinical range of expression was wide: thirty-three (39 per cent) had an obvious deformity of the forearm, eight (10 per cent) had an inequality in the lengths of the limbs, seven (8 per cent) had an angular deformity of the knee, and two (2 per cent) had a deformity of the ankle. The average number of operations for the patients for whom the operative history was known was two.(ABSTRACT TRUNCATED AT 250 WORDS)     

Genetic heterogeneity in families with hereditary multiple exostoses

Isozymes from 18 isolates representing seven species of the Fusarium sections Arthrosporiella and Sporotrichiella were compared by isoelectric focusing in polyacrylamide gels. Of the six enzyme systems tested esterase and malate dehydrogenase showed the largest variation. A numerical analysis of the pI values determined for acid phosphatase, esterase, glucose-6-phosphate dehydrogenase, malate dehydrogenase, phosphoglucose isomerase and phosphoglucomutase resulted in a dendrogam demonstrating the taxonomical relationships of the seven species. Fusarium avenaceum and Fusarium pallidoroseum were the two most closely related species. The high degree of isoenzyme dissimilarity among Fusarium chlamydosporum, Fusarium poae, Fusarium tricinctum, the fungi that produce pyriform or citriform microconidia, suggests that they are distinct species and their reduction to a variety level is not reasonable. The taxonomical distinctness of Fusarium camptoceras, a lesser known and rarely occurring fungus was also proven.     

A gene for hereditary multiple exostoses maps to chromosome 19p

Hereditary multiple exostoses (EXT) is an autosomal dominant bony disorder characterized by the formation of cartilage-capped juxta-epiphyseal prominences on the long bones. Recently, a disease gene (EXT 1) has been mapped to chromosome 8q23-q24 by linkage analysis in informative families. Here, we report on the genetic mapping of a second locus (EXT 2) to the short arm of chromosome 19 by linkage to a microsatellite DNA marker at the D19S221 locus, which gives additional support to the view that EXT is a genetically heterogeneous condition.     

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses

In an in-vitro preparation of gastric mucosae of Rana pipiens, the effect of adding melittin to a concentration of 5x10-6 M in the secretory solution on the transepithelial potential difference (PD), resistance (R) and short-circuit current (Isc) was studied. In 20 min, melittin decreased the PD by 9.3 mV and R by 148 ohm cm2. These changes can be explained by a decrease in the resistance, RP, of the paracellular pathway. To determine whether specific-ion pathways were responsible for the decrease in R, the effect of melittin on the partial conductances of Cl-, K+ and Na+ was also studied using the ion substitution method. Melittin decreased the PD response to changes in nutrient Na+, K+ and Cl- and the PD response to changes in secretory Cl-, but did not affect PD responses to changes in secretory Na+ or K+. Therefore, melittin decreased the nutrient membrane partial conductances of Cl-, K+ and Na+ and secretory membrane partial conductance of Cl-, without affecting the secretory partial conductances of Na+ or K+. Initially, melittin increased Isc in regular and Cl--free but not in Na+-free solutions. There was a delayed decrease in Isc. The results indicate that melittin decreases RP, increases the Na+ conductance of the secretory membrane and inhibits, eventually, the Na+/K+-ATPase pump.     

One-bone forearm as a salvage procedure for recalcitrant forearm deformity in hereditary multiple exostoses

Hereditary multiple exostoses commonly affect the forearm and cause significant deformity. The response of this disease to operative intervention is usually gratifying, but in recalcitrant cases salvage procedures may be necessary. We report two patients treated with radial-ulnar fusion, review the technical aspects of the creation of the so-called "one-bone forearm," and discuss the classification and treatment alternatives available to surgeons treating patients with forearm exostoses. Treatment of both forearms resulted in functional, painless extremities at 3- and 14-year follow-up.     

Cervical spinal cord compression in hereditary multiple exostoses. Report of a case and a review of the literature

Spinal cord compression is an extremely serious complication of hereditary multiple exostoses (HME). A case of HME with compression of the cervical spinal cord is reported. Complete recovery following surgery was achieved. A review of the relevant literature revealed 51 previous cases of HME with cord/cauda equina compression. Most patients were under 30 years of age with more men affected than women. The family history was positive in 60%. The cervical and thoracic areas were predominantly affected, with the symptoms usually developing slowly. Recovery following surgery is to be expected in the majority of cases. In patients with HME and suffering from neurological symptoms, the possibility of spinal cord compression should be considered. Prompt diagnosis and surgical excision provide the best prognosis.     

Reliability of CT scan cerebral hemispheric asymmetry measurements across multiple CT scans and variability in CT scanning angulation.

To date every published paper on CT scan hemispheric asymmetries has measured the asymmetries on only one scan per subject. This study examines whether CT scan hemispheric asymmetry measurements made on individual subjects change category (left, equal, or right) over multiple CT scan times. The asymmetries were measured at each of three scan times for each of 29 subjects (N = 87 scans) by two independent raters. Occipital length asymmetry categories and occipital width asymmetry categories were consistent across multiple CT scans. Frontal length asymmetry categories were not consistent across multiple CT scan times. Frontal width asymmetry categories appear to be more consistent than frontal length asymmetries but less consistent than occipital length or occipital width asymmetries across multiple CT scan times. The inter-rater reliability was most highly correlated for occipital length and occipital width. The inter-rater reliability for frontal width and frontal length asymmetries was also highly correlated. though not as highly as the occipital length or occipital width asymmetries. This study also examined whether CT scan hemispheric asymmetries changed in relation to the angle at which the CT scan was performed. The angulation of the CT scan did not appear to affect the consistency of the CT scan hemispheric asymmetry categories. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Intra-thoracic costal sites of osteogenic exostoses in the child

INTRODUCTION: The technologic improvement of surface coils in MRI has allowed better visualization of the skin and thus permitted the clinical use of this technique in dermatology. MRI allows to assess the depth and extent of skin tumors and to detect any malignant transformation. The MR differentiation between benign and malignant skin lesions relies on morphological criteria which however do not have an absolute diagnostic value. We investigated the role of paramagnetic contrast agents in the differentiation between benign and malignant skin lesions. MATERIAL AND METHODS: Forty-one patients, 33 with benign and 8 with malignant skin tumors, were submitted to MRI. All the examinations were performed with a 1.5 T superconductive unit, with a 2.5 cm surface coil. Axial T1- and T2-weighted SE images were acquired with 2 mm slice thickness. Paramagnetic contrast material was administered to all patients. The signal intensity of the skin lesions was calculated before and after paramagnetic contrast agent administration positioning a region of interest. A percentage ratio of contrast enhancement was calculated to quantify contrast agent uptake and the relative values were compared between benign and malignant lesions. A qualitative analysis was also performed rating the contrast enhancement of each lesion as high, intermediate, or absent. RESULTS: The quantitative analysis showed a statistically significant difference (p < .5) between the contrast enhancement values of benign and malignant lesions. In particular, malignancies had values ranging 117.3 (+/- 28.7) to 125 (+/- 32.4), while benign lesions had -20.6 to 99.8 (+/- 21.1). Conversely, no difference in contrast enhancement was found at qualitative analysis. CONCLUSIONS: MRI is a promising tool for characterizing skin tumors. Our preliminary results should be confirmed on larger series of patients with the use of high temporal resolution imaging sequences.     

Growth rate of multiple intracranial hydatid cysts assessed by CT from the time of embolisation

The authors report a case of necrotizing glomerulonephritis, with granular immune deposits, leading to the etiologic diagnosis of splenic non-Hodgkin's Lymphoma (NHL). The serum creatinine, initially markedly elevated, decreased under steroids and chlorambucil. Unfortunately, the patient died from septic complications. The importance of a careful search for a (localized) NHL in case of necrotizing glomerulonephritis with granular immune deposits is emphasized.     

Whole body spiral CT in primary diagnosis of patients with multiple trauma in emergency situations

PURPOSE: The aim of this study was to evaluate the role of a fast whole body helical CT scanner for primary diagnosis in trauma patients. METHODS: 27 severely injured patients (9 women, 18 men; mean age 43 years) were first examined with a helical CT scanner allowing for digital radiograms up to a length of 1024 mm and continuous helical scans of up to 70 seconds (slice thickness 3 to 10 mm, pitch factor up to 2). The primary CT diagnosis was verified either by x-ray after the CT examination or during the subsequent days, by abdominal ultrasound, by additional CT scans in the following days, and by clinical follow-up. RESULTS: CT showed all clinically relevant injuries of the head, spine, chest, abdomen and pelvis. The diagnosis and classification of vertebral fractures was performed immediately. 4% of the fractures of the extremities and the ribs were not seen primarily. 6% of the injuries were outside the CT scan field. CONCLUSION: Helical CT is a reliable and fast method to obtain vital information and to improve management planning in severely injured patients. It reduces the number of conventional x-ray examinations. In certain cases, additional x-rays of extremity fractures may be required.     

Optimal CT scanning plan for long-bone 3-D reconstruction

OBJECTIVES: This study examined whether pregnancy intention was associated with cigarette smoking, alcohol drinking, use of vitamins, and consumption of caffeinated drinks prior to pregnancy and in early pregnancy. METHODS: Data from a telephone survey of 7174 pregnant women were analyzed. RESULTS: In comparison with women whose pregnancies were intended, women with unintended pregnancies were more likely to report cigarette smoking and less likely to report daily vitamin use. Women with unintended pregnancies were also less likely to decrease consumption of caffeinated beverages or increase daily vitamin use. CONCLUSIONS: Pregnancy intention was associated with health behaviors, prior to pregnancy and in early pregnancy, that may influence pregnancy course and birth outcomes.     

Clinical usefulness of 3-D CT endoscopic imaging of cerebral aneurysms

Chronic granulomatous disease (CGD) of childhood is a rare inherited disease in which phagocytic cells fail to produce the normal respiratory burst in response to infectious stimuli, leaving the patient particularly susceptible to infections with bacteria and fungi that produce catalase. Between 1988 and 1993 at the NIH, 58 pulmonary cytology specimens were obtained on 24 CGD patients. The number of specimens per patient ranged from one to 13 with an average 2.4. The 58 specimens included: 33 bronchoalveolar lavages; one bronchial brushing; 20 lung or pleural mass fine-needle aspirates; three pleural fluids, and one sputum. Two lung aspirates with insufficient material, five bronchoalveolar lavages performed post-treatment to confirm clinical resolution of disease, and two bronchoalveolar lavages not submitted for culture were excluded from further analysis. Of the 49 remaining specimens obtained from patients clinically suspected of having a pulmonary infection, cytology demonstrated a pathogenic organism in nine (18%). Microbiologic cultures were positive in 19/49 (39%). Cytology identified fungus in 8/13 (62%) of documented fungal infections, including four cases where microbiology was negative. Bacterial and mixed bacterial/fungal infections were usually not detected by cytology even with appropriate strains. No organisms were identified by cytology in the four cases of nocardia or the three cases of pseudomonas infection. The combination of cytology and microbiology provided the greatest diagnostic sensitivity, yielding a diagnosis in 22/49 cases (45%). Of the 27 cases with negative cytology and microbiology, an infectious agent was identified in eight upon submission of additional material: three cytology specimens and five tissue specimens. In the remaining 19 cases, no organisms were identified, however, the patients were treated presumptively. Characteristic pathologic features of granulomatous inflammation, necrosis, and giant cells were present in fine-needle aspirates, often when on organisms could be identified, but were not seen in other types of respiratory specimens.     

The role of 3D CT in the treatment of maxillofacial malformations

The computed tomographic studies obtained routinely in the examination of patients with congenital defects of facial bones can be utilized as a substrate to provide an accurate three-dimensional representation of osseous abnormalities. It is a useful tool for the maxillo-facial surgeon in clinical application, in diagnosis, accurate measurements, preoperative planning and post-operative follow-up. The experience of the Division of Maxillo-Facial Surgery of Bellaria Hospital and of the Radiological Department of Instituto Rizzoli at Bologna is presented.     

Automated 3-D registration of MR and CT images of the head

This paper discusses the application of voxel similarity measures in the automated registration of clinically acquired MR and CT data of the head. We describe a novel single-start multi-resolution approach to the optimization of these measures, and the issues involved in applying this to data having a range of different fields of view and sampling resolution. We compare four proposed measures of voxel similarity using the same optimization scheme when presented with 10 pairs of images with a range of initial misregistrations. The registration estimates are compared with those provided by manual point-based registration and evaluated by visual inspection to give an assessment of the robustness and accuracy of the different measures. One full-volume CT image set is used to investigate the performance of each measure when used to align truncated images from different regions in the head. The soft tissue correlation and mutual information measures were found to provide the most robust measures of misregistration, providing results comparable to or better than those from manual point-based registration for all but the most truncated image volumes.     

3D CT of fractures: comparison of volume and surface reconstruction

Melatonin is a hormone primarily produced by the pineal gland at night and is suppressed by exposure to light. Experimental studies have indicated that melatonin may protect against cancer development. In the majority of totally blind people, melatonin is never suppressed by light exposure. The aim of this study was to test the hypothesis that blind people have a decreased cancer incidence, and that this effect is more pronounced in the totally blind than in the severely visually impaired. We identified a cohort of 1,567 totally blind and 13,292 severely visually impaired subjects and obtained information about cancer incidence from the Swedish Cancer Registry. We calculated standardized incidence ratios (SIRs) based on the number of person-years and incidence rates specific for national age, sex, and calendar year. Totally blind people had a lower incidence of all cancers combined [SIR = 0.69; 95% confidence interval (CI) = 0.59-0.82]. The risk reduction was observed in both men and women and was equally pronounced in hormone-dependent tumors as in other types of cancer. In the severely visually impaired, SIR was 0.95 (95% CI = 0.91-1.00). The findings support the hypothesis that blind people have a lower cancer incidence, although other explanations than the higher melatonin exposure must also be considered.     

3-D spiral CT in diagnosis of orbital tumors with intracranial involvement

3-D-Spiral-CT was performed in 2 patients with orbita tumors with intracranic portion. 3-D-CT is enable to visualize the bony connections and judgement of bony destruction. Because of methodical parameters 2D-CT must be the basic of clinical diagnostic.     

128层螺旋CT三维重建在外伤骨折成像的临床应用

目的研究128层螺旋CT三维重建在外伤骨折成像中的临床应用.方法对36例外伤患者进行128层螺旋CT扫描及三维重建.结果 128层螺旋CT对各个部位的骨折均能良好显示.结论 128层螺旋CT三维重建不仅精确地显示病变的立体形态,还能详细了解各解削结构的空间关系,是目前诊断外伤骨折的理想方法.     

Skeletal 3-D CT: advantages of volume rendering over surface rendering

By means of an allometric relation between the oxygen consumption rate and the body mass of an animal a metabolic coefficient is derived that can be used as a measure of standard metabolism in different animal species. This coefficient increased in the course of evolution corresponding to the time of appearance of each class of animal. It reached its highest values in Primates and passerine birds. A further increase across an energetic threshold was only possible with human civilization. A similar approach to evolution is performed through an encephalization coefficient showing that in all phases of evolution, species existed with a much larger relative brain volume than the other members of their class. These species might have established a non-human civilization on Earth if evolution would have taken another path. Finally, social activities of insects and the use of external energy sources by animals are discussed to show further implications of this bioenergetic approach to evolution.     

Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas

BACKGROUND: Osteochondroma most frequently arises sporadically and as a solitary lesion, but also may arise as multiple lesions characterizing the autosomal dominant disorder hereditary multiple exostoses (HME) and the contiguous gene syndromes Langer-Giedion and DEFECT-11 syndromes. HME is genetically heterogeneous with association of three loci including 8q24.1 (EXT1), 11p11-12 (EXT2), and 19p (EXT3). Constitutional chromosomal microdeletions of 8q24.1 and 11p11-12 are features of the Langer-Giedion and DEFECT-11 syndromes, respectively. Cytogenetic studies of osteochondroma are rare. METHODS: Cytogenetic analysis was performed on 34 osteochondroma specimens from 22 patients with sporadic lesions and 4 patients with HME utilizing standard methodologies. Fluorescence in situ hybridization with chromosome specific probes was performed on three cases to define structural rearrangements further. RESULTS: Clonal abnormalities were detected in ten cases. Notably, deletion of 11p11-13 was observed in one case (a sporadic tumor) and loss or rearrangement of 8q22-24.1 in eight cases (seven sporadic and one hereditary tumor). CONCLUSIONS: These findings: 1) confirm previous observations of 8q24.1 karyotypic anomalies in sporadic osteochondroma, 2) reveal the presence of somatic chromosomal anomalies in hereditary osteochondromata, 3) suggest that similar to hereditary lesions, sporadic osteochondromas also are genetically heterogeneic (involvement of both 8q24.1 and 11p11-12), and 4) support the hypothesis that loss or mutation of EXT1 and EXT2, two putative tumor suppressor genes, may be important in the pathogenesis of sporadic as well as hereditary osteochondromata.