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Biomedical subjects

A Bankier

Publications and source records attributed to A Bankier.

At least 55 records · Page 3Linked to original sources
PubMed1998

The DUTT1 gene, a novel NCAM family member is expressed in developing murine neural tissues and has an unusually broad pattern of expression.

A new member of the NCAM family mapping to 3p12 has been isolated and predicted to be arranged in five immunoglobulin-like domains and three fibronectin-like domains which are particularly homologous to L1. There is a transmembrane domain and a long cytoplasmic region with no detectable homology to other sequences. Although less closely related to DCC, another family member, both share a loop of positively charged amino acids within the first immunoglobulin domain, unique to these two members of this very large gene family. Preliminary studies of expression in mouse embryos support an inferred role in neural development, but the observation of widespread gene expression in adult human tissues indicates that this protein has additional functions to those performed in neural cells.

Amino Acid Sequence↗
PubMed1998

[Spiral CT angiography in diagnosis of acute pulmonary embolism. What factors modify implementation of standard algorithms?].

PURPOSE: Debate about the potential implementation of Spiral-CT in diagnostic algorithms of pulmonary embolism are often focussed on sensitivity and specificity in the context of comparative methodologic studies. We intend to investigate whether additional factors might influence this debate. MATERIALS AND METHODS: On the basis of the current literature and of own experience we study the influence of factors such as availability, acceptance, patient-outcome, and cost effectiveness-studies on the potential implementation of Spiral-CT in diagnostic algorithms of pulmonary embolism. This information is analyzed together with data from comparative methodologic studies. RESULTS: The factors availability, acceptance, patient-outcome, and cost-effectiveness-studies do have substantial influence on the implementation of Spiral-CT in the diagnostic algorithms of pulmonary embolism. Incorporation of these factors into the discussion might lead to more flexible and more patient-oriented algorithms for the diagnosis of pulmonary embolism. CONCLUSION: Availability of equipment, acceptance among clinicians, patient-outcome, and cost-effectiveness evaluations should be implemented into the debate about potential implementation of Spiral-CT in routine diagnostic imaging algorithms of pulmonary embolism.

Acute Disease↗
PubMed1998

[Spiral CT and conventional CT in the preoperative imaging of intraocular metal foreign bodies].

PURPOSE: To compare the effectiveness of spiral CT versus conventional CT in the preoperative assessment of metallic intraocular foreign bodies. METHODS: Eighteen patients with penetrating eye injuries and suspected metallic intraocular foreign bodies were assigned to undergo either spiral CT or conventional CT in the axial plane. The spiral and the conventional CT data were transferred to a workstation, and reconstructions in the coronal and sagittal planes were performed. Additional direct coronal scanning was performed only when necessary for preoperative assessment. The quality of the axial as well as the reconstructed coronal and sagittal images was assessed for each imaging modality. The size of the foreign bodies was measured and compared to the actual diameter. Total examination time and radiation dose delivered to the lens were measured for each imaging modality. RESULTS: All foreign bodies were detected by each scanning modality on the axial and on the reconstructed planes. The quality of the axial images was similar for spiral and conventional CT. The spiral technique provided high-quality reconstructed images which allowed accurate localization of the foreign bodies in all cases. Reconstructions by conventional technique were inadequate for preoperative assessment. The examination time for the total orbital volume was 18 s for spiral CT and 52 s for conventional CT. Radiation dose delivered to the lens was 35 mGy for spiral CT and 56 mGy for conventional CT axial scanning. CONCLUSION: Spiral CT multiplanar imaging offers several significant advantages for the preoperative assessment of metallic intraocular foreign bodies compared to the conventional CT technique in clinical practice, including short examination time, minimized motion artifacts, reduced radiation exposure, and accurate localization.

Adolescent↗
PubMed1998

Pelvis-shoulder dysplasia.

Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis. We present the long-term follow-up of a patient with this condition. This patient has severe pelvic dysplasia but no involvement of the scapulae or clavicles. Despite the severity of the pelvic dysplasia, this man is able to function well. This is the fifth case of pelvis-shoulder dysplasia reported, but the only one documenting follow-up into adulthood.

Acetabulum↗
PubMed1998

Morphologic grading of the emphysematous lung and its relation to improvement after lung volume reduction surgery.

BACKGROUND: The morphologic criteria for lung volume reduction surgery, such as severity and heterogeneity of disease, differ widely between patients, and this makes any comparison of functional results between centers difficult. Here we present a morphologic scoring system and describe its possible relation to functional results after lung volume reduction operations. METHODS: Between September 1994 and December 1996, 47 consecutive patients underwent bilateral lung volume reduction operations. The morphology of emphysema was quantified with standard chest roentgenograms and computed tomographic imaging, which were used to define the following four variables: degree of hyperinflation (grade 0 to 4), degree of impairment in diaphragmatic mechanics, degree of heterogeneity (grade 0 to 4), and severity of parenchymal destruction (range, 0 to 48). RESULTS: All four variables showed good reproducibility. Degree of heterogeneity had a significant influence on functional improvement in terms of forced expiratory volume in 1 second (p = 0.0413, r2 = 0.11). Severity of parenchymal destruction was significantly associated with 30-day mortality: patients who died after operation (n = 4) had a severity of parenchymal destruction of 28.4 +/- 2.1 compared with 21.3 +/- 1.0 for those who survived (n = 43) (p = 0.003). CONCLUSIONS: This morphologic scoring system is easy to use, is reproducible, and allows quantification of the morphology of emphysema, thereby allowing definition of different patient subgroups. Such an exact morphologic quantification may help in the comparison of functional results between centers. Furthermore, the risk factors for certain morphologic subgroups, such as patients with a homogeneous distribution pattern, may be clarified in the future.

Adult↗
PubMed1998

Venous contrast fluid level in computed tomography.

OBJECTIVE: To evaluate the clinical significance of a venous contrast fluid level during computed tomography (CT). METHODS: An incidentally found contrast fluid level in the left internal jugular vein during CT in an otherwise healthy patient was the reason for investigation of this phenomenon. We collected data over a 4-year period at our institution and reviewed the case notes of seven patients exhibiting this CT finding. We also performed conventional radiography, CT, venography and colour-coded Doppler sonography to rule out an underlying pathology in those patients. Additional in-vitro CT studies were performed to define conditions of flow leading to a contrast fluid level. Flow dynamics in the internal jugular veins were studied in vivo by using colour-coded Doppler sonography in 20 normal volunteers. RESULTS: In addition to our first patient, we found seven patients with a venous contrast fluid level among a total of 58400 contrast-enhanced CT examinations performed in our institutions. The investigations were performed on various CT-units, with different scan protocols, injection rate, dose and manufacturer of non-ionic contrast agent. The contrast fluid level was encountered unilaterally in the left internal jugular vein in seven patients and in the inferior vena cava in one patient. All patients were free of symptoms and the outcome of all other examinations was unremarkable. In-vitro and in-vivo studies showed that pure contrast agent entering a vessel (in case of the internal jugular vein due to physiological flow and/or stasis) can produce a contrast fluid level. CONCLUSION: The occurrence of a venous contrast fluid level during contrast enhanced CT is an incidental finding of no pathological significance and need not initiate costly further examinations.

Adult↗
PubMed1998

Multiplanar imaging in the preoperative assessment of metallic intraocular foreign bodies. Helical computed tomography versus conventional computed tomography.

OBJECTIVE: This study aimed to compare the effectiveness of helical computed tomography (CT) versus conventional CT in the preoperative assessment of metallic intraocular foreign bodies on axial, coronal, and multiplanar reconstruction images in clinical routine. DESIGN: Prospective comparative trial, alternate assignment of consecutive patients. PARTICIPANTS: Eighteen patients with penetrating eye injuries and suspected metallic intraocular foreign bodies were studied. INTERVENTION: Alternate patients were assigned to undergo either helical CT or conventional CT in the axial plane. Both the helical and the conventional data were transferred to a workstation, and reconstructions in the coronal and sagittal planes were performed. Additional direct coronal scanning was performed only when necessary for preoperative assessment. MAIN OUTCOME MEASURES: The quality of the directly obtained axial and coronal, as well as the reconstructed coronal and sagittal images, was assessed for each, imaging method based on the ability to detect and accurately localize foreign bodies. The size of the foreign bodies was measured and compared to the actual diameter. Total examination time and radiation dose delivered to the lens were measured for each imaging method. RESULTS: All foreign bodies were detected by each scanning method on the axial, the coronal, and on the reconstructed planes. The quality of the axial images was similar for helical and conventional CT. The helical technique provided high-quality reconstructed images comparable in quality to the directly obtained coronal planes in conventional CT. Reconstructions by conventional technique were not useful for preoperative assessment. The examination time for the total orbital volume was 18 seconds for helical CT examinations and 52 seconds for conventional CT examinations. Radiation dose delivered to the lens for the complete examination was 35 mGy for helical CT axial scanning, 56 mGy for conventional CT axial scanning, and 63 mGy for conventional CT coronal scanning. CONCLUSIONS: Helical CT multiplanar imaging offers several significant advantages for the preoperative assessment of metallic intraocular foreign bodies compared to the conventional CT technique in clinical practice, including short examination time, reduced motion artifacts, reduced radiation exposure, and the ability to obtain diagnostically useful coronal and sagittal reconstruction images without the need for additional scanning.

Adolescent↗
PubMed1998

The 4q-syndrome: delineation of the minimal critical region to within band 4q31.

A consistent phenotype has been associated with deletion of the distal long arm of chromosome 4. An invariant requirement for the phenotype in cases described so far has been the deletion of material from within band 4q31 but few other cases have been described that further aid the delineation of the minimum critical region sufficient for the expression of the phenotype. We report a child with a small interstitial deletion within band 4q31 who exhibits most of the features of the established 4q-phenotype.

Abnormalities, Multiple↗
PubMed1998

[Treatment of arterial aneurysms of the pelvic leg vessels using dacron covered nitinol stents].

PURPOSE: To evaluate the success rates of the implantation of stent grafts in the treatment of peripheral aneurysms. MATERIALS AND METHODS: In 13 patients with 15 aneurysms at the common iliac artery (n = 6), external iliac artery (n = 1), hypogastric artery (n = 2), femoral artery (n = 2) or popliteal artery (n = 4), implantation of dacron-covered nitinol stents was performed. The patients were followed up for three to 20 months (mean, 8.8 months) with intravenous digital subtraction angiography, CT or colour-coded Doppler sonography. RESULTS: In all cases, the aneurysm was successfully occluded after stent implantation. In one case with a popliteal aneurysm, kinking of the vessel caused thrombosis of the stent. The stent was successfully reopened. The aneurysm however, had to be surgically treated 9 months later. The primary and secondary patency rates at 6 months were 93% and 100%, respectively. CONCLUSION: The method described might be an alternative therapy to surgery. There are some limitations in respect of treatment of popliteal aneurysms.

Adult↗
PubMed1998

Lipomatous myelomeningocele, athyrotic hypothyroidism, and sensorineural deafness: a new form of syndromal deafness?

This case report describes a 4 year old boy with the unique triad of lipomatous myelomeningocele, congenital hypothyroidism secondary to thyroid agenesis, and sensorineural deafness. While associations between deafness and abnormal thyroid function and deafness and sacral lipoma have previously been described, the constellation of findings in this patient has not been reported.

Abnormalities, Multiple↗
PubMed1998

Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.

Campomelic dysplasia (CD) is a rare skeletal malformation syndrome caused by mutations in the SRY related gene SOX9, mapped to 17q24.3-q25.1. A small proportion of cases are associated with structural rearrangements involving 17q and it has been proposed that this subgroup have a milder phenotype and better prognosis compared to those with mutations in the SOX9 gene. We report a severely affected infant with the acampomelic form of campomelic dysplasia, who died at 11 days and was found to have a de novo reciprocal translocation, 46,XX,t(5;17)(q15;q25.1). This is the second reported case of severe campomelic dysplasia associated with a structural rearrangement involving 17q and suggests that this subgroup of patients may not significantly differ from those without chromosomal rearrangements with regards to phenotype or prognosis.

Chromosomes, Human, Pair 17↗
PubMed1998

Medical complications of achondroplasia: a multicentre patient review.

Achondroplasia is the most prevalent chondrodysplasia and numerous authors have documented the varied social and medical complications that may compromise a full and productive life. Complications include cervicomedullary compression, spinal stenosis, restrictive and obstructive lung disease, otitis media, and tibial bowing, among others. These known complications have led to recommendations for the anticipatory management of such patients. There are relatively few data on the actual rates and timing of these problems. This paper reports data on the rates and age of occurrence of several of these complications based on a review of recorded chart information of 193 patients ascertained from several well established genetic centres with a known interest in the chondrodysplasias. The length of follow up varied and the rates of occurrence at specific age intervals were used to estimate the cumulative percentage affected for each complication. The report includes information on otitis media, ventilation tubes, hearing loss, tonsillectomy, speech problems, tibial bowing and osteotomy, ventricular shunting, apnoea, cervicomedullary decompression, and neurological signs attributable to spinal stenosis.

Achondroplasia↗
PubMed1998

[Diagnostic reliability of 0.2 Tesla dedicated MRI low-field strength equipment in traumatology].

Anatomical dedicated low-field-strength MR imaging (non-whole-body-systems) has been developed for examinations of the peripheral joints. It has several advantages compared to high-field-strength MR imaging (whole-body-systems). The dimensions are small, the noise is not as bad as in whole body systems and people do not suffer of claustrophobic attacks. However, our results of a prospective blinded study in 56 patients with three different kinds of peripheral joint injuries demonstrated that the 0.2 T dedicated system showed a significant lower rate of diagnostic accuracy compared to middle and high-field-strength MR imaging and scored with obvious lower image quality ratings.

Adolescent↗
PubMed1997

Use of record linkage between a statewide genetics service and a Birth Defects/Congenital Malformations Register to determine use of genetic counselling services.

The Birth Defects/Congenital Malformations Register of the Victorian Department of Human Services contains detailed, confidential information on over 2,000 babies born with a birth defect each year in Victoria, Australia, representing approximately 3% of the annual number of births. For 1991 and 1993, the type of anomaly was categorised as warranting a high, moderate, or low need of referral for genetic counselling, depending on risk of recurrence and possible genetic cause. The Victorian Clinical Genetics Service at the Murdoch Institute, Melbourne, offers free, centralised genetic counselling services for the entire state. A comparison of case records between the two agencies has shown little difference in overall use of genetic counselling between 1991 (17%) and 1993 (16%). Rate of uptake in the "high need" category improved only slightly during that period, from 40% in 1991 to 43% in 1993. Utilization of genetic counselling services did not vary disproportionately with mother's country of birth, but was higher for older mothers. As was expected, rates were highest when a baby was born at the only hospital that provides on-site genetic counselling services. Even where a statewide genetic counselling service is in place, it is disappointing that over half of those judged at high need for genetic counselling are not making use of this service. This study will provide baseline information to which future studies can be compared. Using the same study methodology, it will be possible to examine whether the uptake rate increases in accordance with increased genetic services.

Congenital Abnormalities↗
PubMed1997

The nucleotide sequence of Saccharomyces cerevisiae chromosome IX.

Large-scale systematic sequencing has generally depended on the availability of an ordered library of large-insert bacterial or viral genomic clones for the organism under study. The generation of these large insert libraries, and the location of each clone on a genome map, is a laborious and time-consuming process. In an effort to overcome these problems, several groups have successfully demonstrated the viability of the whole-genome random 'shotgun' method in large-scale sequencing of both viruses and prokaryotes. Here we report the sequence of Saccharomyces cerevisiae chromosome IX, determined in part by a whole-chromosome 'shotgun', and describe the particular difficulties encountered in the random 'shotgun' sequencing of an entire eukaryotic chromosome. Analysis of this sequence shows that chromosome IX contains 221 open reading frames (ORFs), of which approximately 30% have been sequenced previously. This chromosome shows features typical of a small Saccharomyces cerevisiae chromosome.

Base Composition↗
PubMed1997

[MRI diagnosis of lesions of the anterior cruciate ligament--comparison of 1.0 Tesla and 0.2 Tesla. Initial results].

The purpose of our study was to compare the diagnostic performance of a 0.2-T MRI unit and a 1.0-T MRI unit in the evaluation of the anterior cruciate ligament in patients with clinically suspected lesions of this ligament. Twenty four patients with clinically suspected lesions of the anterior cruciate ligament underwent MRI of the knee on both 0.2-T and 1.0-T MRI units. Three independent observers evaluated the examinations for primary and secondary signs of a tear of the anterior cruciate ligament. Frequency of these signs was determined for both modalities, and observer agreement was assessed using the kappa statistic. Sixteen of 24 patients had signs of tears of the anterior cruciate ligament on the 1.0-T unit; the 0.2-T unit detected primary signs in 15/16 (93%) patients and secondary signs in 7/12 (43%) patients. In 8 patients the 1.0 T unit showed neither primary nor secondary signs for tears of the anterior cruciate ligament; in these patients the 0.2-T unit detected primary signs in 1/8 cases (12%), and secondary signs in 3/8 cases (37%). Observer agreement was very good for the 1.0-T unit and fair for the 0.2-T unit. There is no substantial difference between 1.0-T units and 0.2-T MRI units in the visualisation of primary signs of tears of the anterior cruciate ligament. In the visualisation of secondary signs, 1.0-T units are superior to 0.2-T units, and there is a surprisingly high rate of false-positive results with the 0.2-T unit. As to the reproducibility of the results, the 1.0-T unit is far superior to the 0.2-T unit.

Adult↗