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At least 145 records · Page 8Linked to original sources
PubMed1996

Iridoschisis: high frequency ultrasound imaging. Evidence for a genetic defect?

AIMS: To elucidate changes in the anatomy of the anterior chamber associated with iridoschisis, a rare form of iris atrophy, and their potential contribution to angle closure glaucoma. METHODS: Both eyes of a 71-year-old woman with bilateral iridoschisis and fibrous dysplasia and her asymptomatic 50-year-old daughter were scanned with a very high frequency (50 MHz) ultrasound system. RESULTS: The symptomatic patient exhibited diffuse changes in the iris stoma with an intact posterior iris pigmented layer in both eyes. These changes were clinically compatible with the lack of iris transillumination defects. Additionally, iris bowing with a resultant narrowing of the angle occurred. The asymptomatic daughter showed discrete, but less severe iris stromal changes. CONCLUSION: This is the first detailed study of high frequency ultrasonic imaging of the iris in iridoschisis. The observed structural changes suggest angle narrowing by forward bowing of the anterior iris stroma may be a mechanism of IOP elevation in this condition. The ultrasonic detection of iris changes in the asymptomatic daughter of the symptomatic patient and the association of iridoschisis with fibrous dysplasia suggest a possible genetic component in the pathogenesis of this condition.

Aged↗
PubMed2000

DNA imaging. Getting a feel for genetic variations.

A team of researchers has come up with a novel atomic imaging microscope that may dramatically speed the task of linking genetic variants to diseases. The microscope is a modification of the popular atomic force microscope (AFM), which uses an ultrasharp tip to map surfaces of everything from computer chips to DNA at the atomic level. By using this molecule-sized tip, the researchers were able get their AFM to march down a strand of DNA and identify uniquely shaped reporter molecules engineered to tag the genetic variations.

DNA↗
PubMed1994

Diagnosis of adult polycystic kidney disease by genetic markers and ultrasonographic imaging in a voluntary family register.

Diagnosis of autosomal dominant adult polycystic kidney disease (APKD) is possible by ultrasonographic scanning (USS) or by using DNA markers linked to the PKD1 locus. Ultrasonography is complicated by the age dependent penetrance of the gene and linkage studies are subject to recombination errors owing to meiotic crossing over and locus heterogeneity. This study draws on data collected from a voluntary family register of APKD over 10 years. Records of 150 families were examined, ultrasound reports were obtained from 242 people at 50% prior risk, and 37 families were typed for DNA markers. The fraction of APKD resulting from loci unlinked to PKD1 (designated PKD2 here) was calculated at 2.94% (upper confidence limit 8.62%). Some subjects who were negative on initial scan later gave a positive scan, but there was no example of a definite gene carrier aged over 30 giving a negative scan. In families large enough for linkage analysis, most people who were at 50% prior risk could be given a final risk below 5% or above 95%, by using combined ultrasound and DNA studies.

Adolescent↗
PubMed2004

Correlation of molecular genetics with molecular and morphological imaging in gliomas with an oligodendroglial component.

PURPOSE: Since the recognition that oligodendrogliomas may be chemosensitive, their diagnosis and clinical management has become highly controversial. Histopathology diagnosis remains challenging and new tools such as molecular genetics or molecular imaging require evaluation. EXPERIMENTAL DESIGN: In a single-center, population-based prospective study, allelic imbalance in chromosomes 1p36, 19q13, 17p13, 10p12-15, and 10q22-26 has been investigated in 19 oligodendroglioma WHO grade 2 (OII), 20 oligoastrocytoma WHO grade 2 (OAII), 8 oligodendroglioma WHO grade 3 (OIII), and 12 oligoastrocytoma WHO grade 3 (OAIII), and compared with pretherapy histopathology, computed tomography and/or magnetic resonance (CT and/or MR), [fluorine-18]fluoro-2-deoxyglucose (18F-FDG), and thallium-201 single-photon emission computed tomography (201Tl SPECT). RESULTS: In 50 cases, 18F-FDG uptake correlated with 201Tl uptake; however, 8 cases had increased 201Tl uptake but were hypometabolic for 18F-FDG, and 1 case was hypermetabolic with normal 201Tl uptake. Sixteen cases enhanced on CT/MR but failed to show 201Tl uptake; and 2 low-grade non-enhancing oligodendrogliomas had increased 201Tl uptake. Increased metabolism was more likely in high-grade cases, with 201Tl uptake more strongly correlated with grade than was 18F-FDG uptake. Tumors with 1p/19q loss were more likely to show increased 201Tl uptake and, to a lesser degree, increased 18F-FDG uptake than those without these losses. Elevated metabolism in 28% of low-grade tumors was significantly more common in tumors with 1p/19q loss, and increased uptake of both 18F-FDG and 201Tl in low-grade cases was found only in those with 1p/19q loss. CONCLUSIONS: In this study, dissociation of uptake of contrast agents and radiotracers suggests independent deregulation of the blood-brain barrier breakdown and metabolism during disease progression of oligodendroglial neoplasms, and the association of elevated metabolism with 1p/19q loss, particularly in low-grade tumors, may have implications for clinical management.

Adult↗
PubMed2000

Protocol for a national multi-centre study of magnetic resonance imaging screening in women at genetic risk of breast cancer.

The protocol of the national multicentre study of Magnetic Resonance Imaging (MRI) as a method of screening for breast cancer in women at genetic risk is described. The sensitivity and specificity of contrast-enhanced MRI will be compared with two-view X-ray mammography in a comparative trial. Approximately 500 women below the age of 50 at high genetic risk of breast cancer will be recruited per year for 3 years, with annual MRI and X-ray examination continuing for up to 5 years. A symptomatic cohort will be measured in the initial phase of the study to ensure consistent reporting between centres. The MRI examination will comprise an initial high-sensitivity screening measurement, followed by a high-specificity measurement in equivocal cases. Retrospective analysis will identify the most specific indicators of malignancy. Sensitivity and specificity, together with diagnostic performance, diagnostic impact and therapeutic impact will be assessed with reference to pathology, follow-up and changes in diagnostic certainty and therapeutic decisions. The psychological impact of screening in this high-risk group will be ascertained.

Journal Article↗
PubMed2003

Molecular brain imaging and the neurobiology and genetics of schizophrenia.

It has been hypothesized that schizophrenia is related to dysfunction in temporolimbic-prefrontal neuronal networks, which is acquired early in an individual's development. After puberty, relatively reduced prefrontal control of striatal dopaminergic neurotransmission may lead to unmodulated striatal dopamine (DA) activity, and the positive symptoms of acute psychosis. Brain imaging studies support the notion of prefrontal dysfunction in schizophrenia and correlated upregulation of presynaptic striatal DA activity. Recent molecular brain imaging studies have combined genetic assessments with a multimodal neuroimaging approach to further refine our understanding of the pathophysiologic architecture of the disorder. We review the literature on functional brain imaging in schizophrenia and discuss genotype effects on core psychotic symptoms. A promising research strategy is the identification of genetic and environmental factors that contribute to intermediate phenotypes such as working memory deficits in schizophrenia. Molecular brain imaging can help to unravel the complex interactions between genes and environment and its association with neuronal network dysfunction in schizophrenia.

Animals↗
PubMed2001

Biofantasies: genetics and medicine in the print news media.

The contemporary news media is an important site for exploring the diverse and complex cultural images of genetics and its medical possibilities, and of the mechanisms by which these images are (re) produced and sustained. This article investigates how the print news media 'frames' stories on genetics and medicine. It is based on a discourse analysis of articles appearing in three Australian newspapers in the late 1990s. Gene stories were found to be prominent in each of the newspapers, and to emphasise the medical benefits of genetic research. Stories frequently cite and quote scientists, who explain the nature and significance of the research and/or its implications for treatment or prevention. Many stories focus on new genetic discoveries, and portray genetic researchers as involved in a quest to unlock nature's secrets. Stories of hope, and depictions of geneticists as warriors or heroes, appear regularly. The positive vision of genetics is supported by the use of particular metaphors, accompanying illustrative material, 'human interest' stories, and reference to credible sources. There is rarely mention of the influence of non-genetic factors and 'multifactorial' interactions on disorders, or questioning of the goals, direction, methods, or value of genetic research. Scientists made extensive use of the media in their efforts to maintain a positive image of research in the face of public concerns about scientists 'going too far', following the announcement of the cloning of Dolly. Boundaries were drawn between 'therapeutic cloning'--implicitly defined as 'good', useful, and legitimate--and 'reproductive cloning'--seen as 'bad', dangerous, and illegitimate. By framing news stories as they do, the print news media are likely to exert a powerful influence on public responses to health problems. With new genetic technologies becoming more integrated in preventive medicine and public health, it is important to investigate how news stories help shape the agenda for public debate.

Animals↗
PubMed2004

[Currarino syndrome: variability of imaging findings in 22 molecular-genetically identified (HLXB9 mutation) patients from five families].

PURPOSE: The imaging documents, obtained in connection with a primarily molecular genetic study on Currarino syndrome, should be evaluated with special respect to the constancy resp. the variability of findings in patients with proven HLBX9 mutations. METHODS: In five female non-related index patients with clinico-radiologically diagnosed Currarino syndrome and further 53 members of their families, changes of the homeobox gene HLXB9 had been analysed. Variable mutations of this gene were found in a total of 23 individuals including the five index patients. In 22 of them the preexisting radiological documents could be collected as well as further imaging (plain sacrococcygeal radiography and/or lumbosacral MRI at least) initiated. This was followed by a detailed evaluation of pathological findings in the os sacrum/coccyx as well as in the presacral, the intraspinal, the anorectal, and the urogenital region, finally. RESULTS: Imaging investigations revealed concomitant phenotypic abnormalities in all and even nine clinically asymptomatic individuals with proven HLXB9 mutations. A sacrococcygeal defect of varying intensity was depicted in every case. Complete Currarino triad (i. e. sacrococcygeal defect, presacral mass = anterior meningocele and/or tumor, anorectal malformation) was only found in the five index patients and three further relatives. In all other cases, one or more of the following anomalies were detected with variable combination and with decreasing frequency: anterior meningocele (12), presacral tumor (11), tethered cord (10), intraspinal lipoma (8), anorectal stenosis/atresia (8), syringocele (5), rectal fistula (3), urogenital (2). CONCLUSION: Currarino syndrome should be considered as a differential diagnosis in all patients with chronic constipation since early infancy and its imaging index finding, i. e. a sacrococcygeal defect, should be looked for with plain radiography, first. In positive cases or other phenotypic suspicious constellations molecular genetic analysis for HLBX9 mutations should be the next step. If positive again, this should be followed by complete adequate imaging in the patient as well as by plain sacrococcygeal radiography in, at least, symptomatic family members.

Abnormalities, Multiple↗
PubMed2006

[Molecular imaging: future uses in arthritides].

Molecular imaging is an upcoming field in radiology as a result of great advances in imaging technology, genetics, and biochemistry in the recent past. Early-stage imaging of molecular pathological changes in cells opens the gates to new methods in medical treatment of diseases that otherwise would only be detected in advanced stages. Methods of imaging biochemical pathways with molecular agents are currently an issue of intensive research. This article reviews current modalities of molecular imaging in arthritis that should offer future perspective on early disease detection, diagnosis, and monitoring of treatment efficiency and how they can pave the way to optimized therapy.

Arthritis↗
PubMed2001

Novel approaches to imaging brain tumors.

Brain imaging techniques are assuming a greater range of roles in neuro-oncology. New techniques promise earlier recognition of the spread of tumors to the brain, which is useful in staging of disseminated disease, as well as better definition of small lesions associated with presentations of epilepsy. There is the promise that entirely noninvasive, specific diagnosis of brain tumors may become possible. Imaging methods are being used increasingly to direct and monitor therapy. Preoperative and intraoperative imaging are being used for guiding tumor surgery. An exciting potential goal for greater use of imaging is in the individualization of medical therapies either by analysis of in vitro responses or by visualization of drug responses on the tumor in situ. An important focus for technical development is in the robust integration of complementary information to allow optimization of the sensitivity and specificity of multimodal examinations.

Antineoplastic Agents↗
PubMed2000

Automatic prostate boundary recognition in sonographic images using feature model and genetic algorithm.

This paper describes the development of a model-based boundary recognition system for transrectal prostate ultrasonographic images. It consists of two techniques: boundary modeling and boundary searching with model constraints. To achieve higher specificity of the model, a method called feature modeling is derived from the existing point distribution modeling method. To improve the robustness of the searching technique, the genetic algorithm is used. Incremental genetic algorithm with crowding replacement and binary string chromosome type was found experimentally to give good search results. It was shown that the system could recognize the boundary with considerable accuracy and consistency within a few minutes in transrectal ultrasonographic images taken from approximate middle position of the prostate.

Algorithms↗
PubMed2004

Genetically encoded optical probes for imaging cellular signaling pathways.

The intracellular signaling can be monitored in vivo in living cells by genetically encoded intracellular fluorescent and bioluminescent probes or indicators, which include second messengers, protein phosphorylation, protein conformational changes, protein-protein interactions, and protein localizations. These probes are of general use not only for fundamental biological studies, but also for assay and screening of possible pharmaceutical or toxic chemicals that inhibit or facilitate cellular signaling pathways. In this review, two examples of such indicators were briefly introduced. First, a genetically encoded fluorescent indicator was described for the detection and characterization of estrogen agonists and antagonists. The indicator was named SCCoR (single cell-coactivator recruitment). The high sensitivity of the present indicator made it possible to distinguish between estrogen strong and weak agonists in a dose-dependent fashion, immediately after adding a ligand to live cells. Discrimination of agonists from antagonists was efficiently achieved using the indicator. The approach described here can be applied to develop biosensors for other hormone receptors as well. Another example herein is a genetically encoded bioluminescent indicator for monitoring the nuclear trafficking of target proteins in vitro and in vivo. We demonstrated quantitative cell-based in vitro sensing of ligand-induced translocation of androgen receptor, which allowed high-throughput screening of exo- and endogenous agonists and antagonists. Furthermore, the indicator enabled noninvasive in vivo imaging of the androgen receptor translocation in the brains of living mice with a charge-coupled device imaging system. These rapid and quantitative analyses in vitro and in vivo provide a wide variety of applications for screening pharmacological or toxicological compounds and testing them in living animals.

Biosensing Techniques↗
PubMed1998

Directions of aetiologic research on attention deficit hyperactivity disorder.

OBJECTIVE: The aim of this paper is to review and integrate recent literature on aetiological factors that have been postulated for attention deficit hyperactivity disorder (ADHD). METHOD: Recent studies relating to perinatal brain damage, intra-uterine toxic effects, neurochemical, brain imaging and genetic studies are reviewed, and those considered most significant are discussed. Where possible, recent findings are integrated and directions of future research are suggested. Clinical implications are briefly discussed. RESULTS: Perinatal studies indicate that children with a birth weight under 750 g may be disadvantaged for attentional skills. Magnetic resonance imaging (MRI) and steady state visually evoked potential studies show differences in prefrontal, caudate and parietal areas in ADHD children, suggesting right hemispheric dysfunction. Functional MRI studies hold promise in further elucidating attentional systems in the central nervous system that are involved in ADHD. Genetic studies suggest genes related to dopaminergic systems may be important. CONCLUSIONS: Recent research on ADHD has made considerable advances, particularly in the areas of brain imaging and genetic studies. Genetic studies should provide further aetiological understandings of ADHD, leading to more targeted treatments.

Attention Deficit Disorder with Hyperactivity↗