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Biomedical subjects

A Bankier

Publications and source records attributed to A Bankier.

At least 19 recordsLinked to original sources
PubMed2007

[Radiologic diagnosis of lung tuberculosis].

The radiologic knowledge of tuberculosis-associated lung disease is an essential tool in the clinical diagnosis of tuberculosis. Chest radiography is the primary imaging method, but the importance of CT is still increasing, as CT is more sensitive in the detection of cavitation, of hilar and mediastinal lymphadenopathie, of endobronchial spread and of complications in the course of the disease. In addition, CT has been proven as a valuable technique in the assessment of tuberculosis activity, especially in patients where M. tuberculosis has not been detected in the sputum or in patients with multidrug-resistant tuberculosis. Depending on the immune status of the patient, the morphologic spectrum of tuberculosis is quite variable. Early diagnosis of tuberculosis is essential to prevent further spread of the disease.

Adult↗
PubMed2007

[Imaging of emphysema].

Emphysema is defined as a condition of the lung characterized by abnormal, permanent enlargement of airspaces distal to the terminal bronchiole accompanied by destruction of the alveolar walls and without obvious fibrosis. It is a very common disease with high morbidity and mortality. Histopathologically, there are two types of emphysema: panlobular emphysema, typically occurring in alpha1-antitrypsin deficiency, and centrilobular emphysema, which is strongly associated with cigarette smoking. Computed tomography (CT) allows detection of emphysema with higher sensitivity than conventional chest radiography and pulmonary function tests. CT also allows quantification of emphysema and depicts associated changes and complications. The differential diagnosis of emphysema, which is characterized by the absence of clearly definable walls on CT, includes cystic lung disease, bullae, lung laceration, Langerhans cell histiocytosis, and lymphangioleiomyomatosis -which are all characterized by visible walls on CT.

Age Factors↗
PubMed2006

A discrete choice experiment of preferences for genetic counselling among Jewish women seeking cancer genetics services.

To determine which aspects of breast cancer genetic counselling are important to Ashkenazi Jewish women, a discrete choice experiment was conducted. Participants consisted of 339 Australian Ashkenazi Jewish women who provided a blood sample for research used to test for Ashkenazi Jewish ancestral mutations in the genes BRCA1 and BRCA2, and were offered their genetic test result through a cancer genetics service. Main outcome measures were women's preferences for, and trade-offs between, the genetic counselling aspects of providing cancer, gene, and risk information (information); giving advice about cancer surveillance (surveillance); preparing for genetic testing (preparation); and, assistance with decision-making (direction). Respondents most valued information, about twice as much as advice about surveillance, four times as much as preparation for testing, and nine times as much as assistance with decision-making, which was least valued. Women's preferences were consistent with the major goals of genetic counselling, which include providing information and surveillance advice, and avoiding direction by facilitating autonomous decision-making. There were differences between the women in which aspects they most favoured, suggesting that counselling that elicits and responds to clients' preferences is more likely to meet clients' needs.

Adult↗
PubMed2006

Construction and use of facial archetypes in anthropology and syndrome diagnosis.

This paper describes the benefits of moving from recording simple Euclidian distances and angles between landmarks on the face to full three-dimensional visualisation and mapping using modern optical scanning techniques. Pilot experiments are reported on that strive to create facial archetypes which are accurately descriptive of various cohorts of people. Issues considered include variation amongst people of the same sex, age and population-of-origin. The study has discovered that very few people are needed to construct an "average" face, which is measurably indistinguishable from another average constructed using the faces of other people from within the group studied. This discovery has given the researchers confidence in the reliability of the archetypes which they have produced and this is important if such an analytical technique is to find application in discriminating between peoples on a population basis and in syndrome diagnosis.

Adult↗
PubMed2005

The adult phenotype in Costello syndrome.

We report clinical findings in 17 adults with Costello syndrome ranging in age from 16 to 40 years. Two patients in this series have had bladder carcinoma, the only malignancy reported to affect adults with Costello syndrome. Benign tumors included multiple ductal papillomata in two women, and a fourth ventricle mass in one man, thought to be a choroid plexus papilloma. Endocrine problems in this series were osteoporosis, central hypogonadism, and delayed puberty. Other health problems were symptomatic Chiari malformations in three patients. Four patients had adult-onset gastro-esophageal reflux, three of whom had Chiari malformations. Fourteen adults had mild to moderate intellectual disability with three individuals having severe intellectual disability; 15 individuals attained some reading and writing skills and 14 showed ongoing acquisition of new skills into adulthood. On the basis of this data, we recommend that neuro-imaging be considered in adults with Costello syndrome if they develop symptoms suggestive of a Chiari malformation. In the event of pubertal delay, endocrine investigations are indicated and hormone treatment may be required. Bone density assessments should be performed in adults with Costello syndrome, particularly in those with pubertal abnormalities. Screening for microscopic hematuria as a marker for bladder carcinoma may be indicated, although this requires further evaluation.

Abnormalities, Multiple↗
PubMed2004

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

This study was undertaken to document the phenotype of Kabuki (Niikawa-Kuroki) syndrome in patients from Australia and New Zealand, with particular emphasis on growth patterns, behavior, and relationship between head circumference and intellectual level. Data on 27 children and adults with Kabuki (Niikawa-Kuroki) syndrome from Australia and New Zealand were collected by questionnaire and clinical assessment. The patients ranged in age from 7 months to 36 years with a mean age of 7 years and 2 months. The mean age at diagnosis was 3(5/6) years, but in most cases, the facial phenotype was evident from infancy. The minimum birth prevalence was calculated at 1 in 86,000. Three of our patients died. Parents reported a behavior phenotype characterized by an excellent long-term memory and avoidance of eye contact. No correlation was found between head circumference and severity of intellectual disability. Eight of 14 patients over the age of 5 years were overweight or obese. Six of these eight patients had failure to thrive in infancy. One patient developed insulin-dependent diabetes mellitus in adolescence. Some individuals with Kabuki (Niikawa-Kuroki) syndrome show a characteristic growth profile with failure to thrive in infancy progressing to obesity or overweight in middle childhood or adolescence. A behavior phenotype was noted which requires further investigation. Head size is not a predictor of degree of intellectual disability.

Abnormalities, Multiple↗
PubMed2003

[Imaging in collagen-vascular diseases with special emphasis on fibrotic lung alterations].

This review presents the wide spectrum of radiological abnormalities seen in patients with collagen-vascular disorders. It provides an overview of both common and uncommon findings observed in this group of diseases. Moreover, diagnostic imaging algorithms used in conjunction with clinical tests are presented. In addition to conventional radiography and computed tomography (CT), these diagnostic algorithms also include more recent radiological modalities, such as thin section CT and multislice CT.

Collagen Diseases↗
PubMed2003

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

The congenital myopathies are a group of disorders characterised by the predominance of specific histological features observed in biopsied muscle. Central core disease and nemaline myopathy are examples of congenital myopathies that have specific histological characteristics but significantly overlapping clinical pictures. Central core disease is an autosomal dominant disorder with variable penetrance which has been linked principally to the gene for the skeletal muscle calcium release channel (RYR1). Two recent reports have identified the 3' transmembrane domain of this gene as a common site for mutations. Two other studies have reported single families that have features of both central core disease and nemaline myopathy (core/rod disease) caused by mutations in RYR1. Screening of the 3' region (exons 93-105) of the RYR1 gene for mutations in 27 apparently unrelated patients with either central core disease or core/rod disease by single strand conformation polymorphism analysis and DNA sequencing identified three described and nine novel mutations in 15 patients.

DNA Mutational Analysis↗
PubMed2003

Evaluation of a Tay-Sachs disease screening program.

Tay-Sachs Disease (TSD) is an autosomal recessive neurodegenerative disorder. TSD is prevalent in the Ashkenazi Jewish population, and carrier screening programs have been implemented worldwide in these communities. A screening program initiated in 1997 involving the Melbourne Jewish community (Australia) incorporated education, counselling and carrier testing of high-school students aged 15 to 18 years. This study aimed to assess the participation rates, level of knowledge obtained and predicted feelings and attitudes of the students involved. Seven hundred and ten students participated, there was a 67% uptake for testing with a carrier rate of 1 in 28 determined. The level of knowledge of the students following education was high and of relative importance in regard to decision making, as were their feelings and attitudes about genetic testing for carrier status. A significant impediment to test uptake was the need for blood sampling, resulting in a recommendation for the introduction of DNA analysis on cheek brush samples. The evaluation of this program has given a wider scope for further development as well as providing valuable information for the implementation of community screening programs.

Adolescent↗
PubMed2003

Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition.

Ohdo syndrome (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. A wide range of dysmorphic features and congenital abnormalities have been described in cases reported as Ohdo and Ohdo-like syndromes. We report a further two cases of Ohdo syndrome, one with mild features and the other more severely affected, illustrating the phenotypic variability of the condition. A review of the literature highlights the severe phenotype associated with distinctive facial features, as seen in Case 2 in this report All cases with the severe phenotype have been sporadic. Subtelomeric FISH studies of all chromosome arms on the two cases showed no abnormality. We propose clinical criteria for the diagnosis of Ohdo syndrome and delineate features of the severe phenotype.

Blepharophimosis↗
PubMed2002

Molecular analysis for genetic counselling in amelogenesis imperfecta.

OBJECTIVE: To use molecular genetics to establish the mode of inheritance in a family with amelogenesis imperfecta. MATERIALS AND METHODS: The polymerase chain reaction was used to amplify exons of the amelogenin gene on the short arm of the X chromosome. RESULTS: A single base deletion mutation in exon 6 of the amelogenin gene was identified. This mutation was a single base deletion of a cytosine residue - 431delC - in codon 96 of exon 6, introducing a stop codon 30 codons downstream of the mutation in codon 126 of the exon. CONCLUSION: The firm establishment of an X-linked mode of inheritance affects the genetic counselling for this family.

Amelogenesis Imperfecta↗
PubMed2002

[From morphology to function: progress in integrated lung imaging using computerized tomography and magnetic resonance tomography].

During the last two decades diagnostic imaging of the pulmonary system has been improved dramatically with computed tomography (CT). Especially with high-resolution computed tomography techniques it has become possible to document the various forms of interstitial lung disease in detail. Magnetic resonance imaging (MRI) has been accepted for investigating abnormalities of the Mediastinum and of the chest wall. Magnetic resonance imaging of the lung parenchyma, however, is performed in experimental settings and is not yet used routinely in clinical practice.

Humans↗
PubMed2001

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.

Solitary median maxillary central incisor (SMMCI) or single central incisor is a rare dental anomaly. It has been reported in holoprosencephaly (HPE) cases with severe facial anomalies or as a microform in autosomal dominant HPE (ADHPE). In our review of the literature, we note that SMMCI may also occur as an isolated finding or in association with other systemic abnormalities. These anomalies include short stature, pituitary insufficiency, microcephaly, choanal atresia, midnasal stenosis, and congenital nasal pyriform aperture stenosis. SMMCI can also be a feature of recognized syndromes or associations or a finding in patients with specific chromosomal abnormalities. We performed a molecular study on a cohort of 13 SMMCI patients who did not have HPE. We studied two genes, Sonic Hedgehog (SHH) and SIX3, in which mutations have been reported in patients showing SMMCI as part of the HPE spectrum. A new missense mutation in SHH (I111F), segregating in one SMMCI family, was identified. Our results suggest that this mutation may be specific for the SMMCI phenotype since it has not been found in the HPE population or in normal controls. Published 2001 Wiley-Liss, Inc.

Abnormalities, Multiple↗
PubMed2001

Determination of regional pulmonary parenchymal strain during normal respiration using spin inversion tagged magnetization MRI.

In clinical practice, the assessment of lung mechanics is limited to a global physiological evaluation, which measures, in the aggregate, the contributions of the pulmonary parenchyma, pleura, and chest wall. In this study, we used an MR imaging methodology which applies two-dimensional bands of inverted magnetization directly onto the pulmonary parenchyma, thus allowing for the quantification of local pulmonary tissue deformation, or strain, throughout inhalation. Our results showed that the magnitude of strain was maximal at the base and apex of the lung, but was curtailed at the hilum, the anatomical site of the poorly mobile bronchial and vascular insertions. In-plane shear strain mapping showed mostly positive shear strain, predominant at the apex throughout inhalation, and increasing with expanding lung volume. Anisotropy mapping showed that superior-inferior axial strain was greater than medial-lateral axial strain at the apex and base, while the opposite was true for the middle lung field. This study demonstrates that localized pulmonary deformation can be measured in vivo with tagging MRI, and quantified by applying finite strain definitions from continuum mechanics.

Adult↗
PubMed2001

Parental mosaicism of JAG1 mutations in families with Alagille syndrome.

The Alagille syndrome (AGS), a congenital disorder affecting liver, heart, skeleton and eye in association with a typical face, is an autosomal dominant disease with nearly complete penetrance and variable expression. AGS is caused by mutations in the developmentally important JAG1 gene. In our mutation screening, where 61 mutations in JAG1 were detected, we identified five cases where mosaicism is present. Our results point to a significant frequency of mosaicism for JAG1 mutations in AGS of more than 8.2%. Because mosaicism may be associated with a very mild phenotype, the appropriate diagnosis of AGS and consequently the determination of the recurrence risk can be complicated.

Alagille Syndrome↗
PubMed2001

Chromosomal abnormalities in idiopathic congenital bilateral vocal cord paralysis.

Idiopathic congenital bilateral vocal cord paralysis (BVCP) can occur as an isolated abnormality or as part of a multisystem disorder. The chromosomal abnormalities found in 4 children who presented with idiopathic congenital BVCP in association with other congenital abnormalities between January 1991 and April 1999 are described. Three children had abductor paralysis, and tracheostomy was required in 1. The fourth child had adductor paralysis and required a feeding gastrostomy for management of aspiration. There was no clinically significant improvement in vocal cord function observed in any child. Idiopathic congenital BVCP, when associated with other congenital disorders, may occur as a consequence of an underlying chromosomal abnormality, and chromosome studies should be performed in this group of children. Similarly, the possibility of vocal cord dysfunction should be considered in children who are found to have chromosomal abnormalities. A chromosomal abnormality appears to preclude the possibility of early spontaneous improvement in vocal cord function.

Abnormalities, Multiple↗