Detection of undiagnosed coeliac disease with atypical features using antireticulin and antigliadin antibodies

Eighteen patients with a variety of non-gastrointestinal symptoms were incidentally found to have circulating antireticulin antibody and on subsequent testing were also positive for antigliadin antibody. They prospectively underwent jejunal biopsy to determine whether or not they had coeliac disease. Their age range was 21-79 years (mean 42 years). Enteropathy was present in 13 (72 per cent) and was always associated with circulating IgA antigliadin antibody. Enteropathy was not present in the five cases who had only IgG antibody. Clinical improvement occurred in eight of 11 patients who complied with a gluten-free diet and was paralleled by an improvement in the mucosal histology in seven of eight who were re-biopsied. The most remarkable cases were two patients who presented with severe debility and no apparent haematological or biochemical abnormalities, and who subsequently made a dramatic recovery on a gluten-free diet. It is concluded that antireticulin antibody detected by routine autoantibody screening and confirmed to have IgA antigliadin antibody specificity is a useful indicator of an otherwise undiagnosed enteropathy. This serves to emphasize that the condition can sometimes be associated with atypical features and significant morbidity.

On the Qualitative Comparison of Decisions Having Positive and Negative Features

Making a decision is often a matter of listing and comparing positive and negative arguments. In such cases, the evaluation scale for decisions should be considered bipolar, that is, negative and positive values should be explicitly distinguished. That is what is done, for example, in Cumulative Prospect Theory. However, contrary to the latter framework that presupposes genuine numerical assessments, human agents often decide on the basis of an ordinal ranking of the pros and the cons, and by focusing on the most salient arguments. In other terms, the decision process is qualitative as well as bipolar. In this article, based on a bipolar extension of possibility theory, we define and axiomatically characterize several decision rules tailored for the joint handling of positive and negative arguments in an ordinal setting. The simplest rules can be viewed as extensions of the maximin and maximax criteria to the bipolar case, and consequently suffer from poor decisive power. More decisive rules that refine the former are also proposed. These refinements agree both with principles of efficiency and with the spirit of order-of-magnitude reasoning, that prevails in qualitative decision theory. The most refined decision rule uses leximin rankings of the pros and the cons, and the ideas of counting arguments of equal strength and cancelling pros by cons. It is shown to come down to a special case of Cumulative Prospect Theory, and to subsume the “Take the Best” heuristic studied by cognitive psychologists.

Clinico-epidemiological features of infections caused by CTX-M type extended spectrum beta lactamase-producing Escherichia coli in hospitalised patients

A review of medical records of 45 of 53 hospitalised patients with positive cultures for CTX-M type ESBL-producing Escherichia coli between 01 January and 31 May 2004 was conducted. The mean age of the population studied was 73.1 (+/-14.6) years and the majority (55.6%) had been under the care of the internal medicine or elderly care service. In the majority (77.8%) of instances the isolate was attributed to a clinical infection rather than colonisation and the commonest clinical specimen to yield the organism was urine, which was positive in 57.8% of patients. Acquisition of the organism was categorised as nosocomial in 68.9% of patients; in this subgroup, the median duration of inpatient stay prior to recovery of the organism was 24 (range 3-240) days. Haemodialysis-dependence was the most common of the comorbidities evaluated. The mean number of antibiotics prescribed per patient in the 30 days prior to first isolation of the organism was 1.7 (range 0-4). Furthermore, the mean number of antibiotic-days exposure per patient during this period was 13.9 (range 0-48). The most frequently received class of antibiotic was beta-lactam/beta-lactamase inhibitor combinations. Of 35 infections, 26 (74.2%) were successfully treated. Overall 12 patients with infection died (34.3%); attributable mortality was presumed in seven (20%).

Gender Classification via Lips: Static and Dynamic Features

Automatic gender classification has many security and commercial applications. Various modalities have been investigated for gender classification with face-based classification being the most popular. In some real-world scenarios the face may be partially occluded. In these circumstances a classification based on individual parts of the face known as local features must be adopted. We investigate gender classification using lip movements. We show for the first time that important gender specific information can be obtained from the way in which a person moves their lips during speech. Furthermore our study indicates that the lip dynamics during speech provide greater gender discriminative information than simply lip appearance. We also show that the lip dynamics and appearance contain complementary gender information such that a model which captures both traits gives the highest overall classification result. We use Discrete Cosine Transform based features and Gaussian Mixture Modelling to model lip appearance and dynamics and employ the XM2VTS database for our experiments. Our experiments show that a model which captures lip dynamics along with appearance can improve gender classification rates by between 16-21% compared to models of only lip appearance.

Clinicopathological features of homologous recombination-deficient epithelial ovarian cancers: Sensitivity to PARP inhibitors, platinum, and survival

Up to 50% of epithelial ovarian cancers (EOC) display defects in the homologous recombination (HR) pathway. We sought to determine the ramifications of the homologous recombination-deficient (HRD) status on the clinicopathologic features, chemotherapy response, and survival outcomes of patients with EOCs. HR status was determined in primary cultures from ascitic fluid in 50 chemotherapy-naïve patients by a functional RAD51 immunofluorescence assay and correlated with in vitro sensitivity to the PARP inhibitor (PARPi), rucaparib. All patients went on to receive platinum-based chemotherapy; platinum sensitivity, tumor progression, and overall survival were compared prospectively in HR-competent versus HRD patients. Compared with HR-competent patients, the HRD group was predominantly serous with a higher median CA125 at presentation. HRD was associated with higher ex vivo PARPi sensitivity and clinical platinum sensitivity. Median follow-up duration was 14 months; patients in the HRD group had lower tumor progression rates at 6 months, lower overall/disease-specific death rates at 12 months, and higher median survival. We therefore suggest that HRD as predicted by a functional RAD51 assay correlates with in vitro PARPi sensitivity, clinical platinum sensitivity, and improved survival outcome.

Evidence for relativistic features in the X-ray spectrum of Mrk 335

We present an analysis of hard X-ray features in the spectrum of the bright Sy 1 galaxy Mrk 335 observed by the XMM-Newton satellite. Our analysis confirms the presence of a broad, ionized Fe Ka emission line in the spectrum, first found by Gondoin et al. The broad line can be modelled successfully by relativistic accretion disc reflection models. This interpretation is unusually robust in the case of Mrk 335 because of the lack of any ionized ('warm') absorber and the absence a clear narrow core to the line. Partial covering by neutral gas cannot, however, be ruled out statistically as the origin of the broad residuals. Regardless of the underlying continuum we report, for the first time in this source, the detection of a narrow absorption feature at the rest frame energy of ~5.9 keV. If the feature is identified with a resonance absorption line of iron in a highly ionized medium, the redshift of the line corresponds to an inflow velocity of ~0.11-0.15c. We present a simple model for the inflow, accounting approximately for relativistic and radiation pressure effects, and use Monte Carlo methods to compute synthetic spectra for qualitative comparison with the data. This modelling shows that the absorption feature can plausibly be reproduced by infalling gas providing that the feature is identified with Fe xxvi. We require the inflowing gas to extend over a limited range of radii at a few tens of r to match the observed feature. The mass accretion rate in the flow corresponds to 60 per cent of the Eddington limit, in remarkable agreement with the observed rate. The narrowness of the absorption line tends to argue against a purely gravitational origin for the redshift of the line, but given the current data quality we stress that such an interpretation cannot be ruled out. © 2006 The Authors.

Primary cysts of the iris pigment epithelium. Clinical features and natural course in 234 patients

Objective: To describe the clinical characteristics, natural course, and complications of a large group of patients with primary iris pigment epithelium (IPE) cysts. Design: Observational case series. Participants: Two hundred thirty-four patients with primary IPE cysts participated. Results: Primary IPE cysts were classified as central in 6 patients (3%), midzonal in 50 patients (21%), peripheral in 170 patients (73%), and dislodged in 8 patients (3%). Central (pupillary) IPE cysts were found only in males, peripheral IPE cysts were found most often in females (69%), and no gender predilection was detected for midzonal and dislodged IPE cysts. Central and peripheral IPE cysts occurred in young patients (mean age, 20 and 33 years, respectively), whereas midzonal and dislodged IPE cysts were seen in slightly older patients (mean age, 52 and 45 years, respectively). Central IPE cysts were visible when the pupil was not dilated and appeared most often as a round or collapsed brown lesion arising from the pupillary margin, most commonly superonasally. Midzonal IPE cysts were brown and fusiform, best visualized after pupillary dilation. Peripheral IPE cysts produced a characteristic bulging in the iris stroma near the iris root, but they were directly visible in only 78% of cases. After wide dilation and patient and slit-lamp positioning, they appeared as a round clear lesion behind the iris, most often in the inferotemporal quadrant. Finally, dislodged IPE cysts appeared as a brown oval lesion, free floating in the anterior chamber (12%) or in the vitreous (12%), or fixed in the anterior chamber angle (75%). One hundred twenty-four patients (53%) were followed for a mean of 35 months (range, 3 months-19 years). In these patients, complications associated with IPE cysts included lens subluxation in one case (1%), iritis in one case (1%), focal cataract in two cases (2%), glaucoma in two cases (2%), and corneal touch in five cases (4%). Conclusion: Primary IPE cysts have characteristic clinical features that serve to differentiate them from intraocular malignancies. Most cysts have a benign clinical course, and treatment is rarely necessary.

An Investigation Into Features For Multi-View Lipreading

For the first time in this paper we present results showing the effect of speaker head pose angle on automatic lip-reading performance over a wide range of closely spaced angles. We analyse the effect head pose has upon the features themselves and show that by selecting coefficients with minimum variance w.r.t. pose angle, recognition performance can be improved when train-test pose angles differ. Experiments are conducted using the initial phase of a unique multi view Audio-Visual database designed specifically for research and development of pose-invariant lip-reading systems. We firstly show that it is the higher order horizontal spatial frequency components that become most detrimental as the pose deviates. Secondly we assess the performance of different feature selection masks across a range of pose angles including a new mask based on Minimum Cross-Pose Variance coefficients. We report a relative improvement of 50% in Word Error Rate when using our selection mask over a common energy based selection during profile view lip-reading.

Electron microscopic features of experimental choroidal neovascularization

We produced choroidal neovascularization in the rhesus monkey by diminishing the blood supply to the inner retina and producing defects in Bruch's membrane by photocoagulation. The neovascular fronds which developed either infiltrated the subretinal space or proliferated through necrotic and gliotic retina into the vitreous cavity. Sequential electron microscopic sections of neovascular fronds in the subretinal space demonstrated that the advancing capillary sprouts were composed of primitive endothelial tubes surrounded by pericytes and enmeshed in a loose basement-membrane-like substance. More mature capillaris and displayed endothelial fenestrations and endothelial-pericyte membranous contacts. Large neovascular fronds developed major feeding vessels that closely resembled normal small choroidal arteries and veins. Retinal pigment epithelial cells in various guises were in constant association with proliferating neovascular networks.

Morphologic fluorescein angiographic, and light microscopic features of experimental choroidal neovascularization

We induced choroidal neovascularization in the rhesus monkey by impoverishing the blood supply to the inner retina and producing defects in Bruch's membrane by photocoagulation. Fourteen of 46 eyes undergoing photocoagulation developed neovascular fronds which were identified and categorized by histopathologic examination and fluorescein angiography. All new vessels gained access to the retina through defects in Bruch's membrane at the site of photocoagulation marks. In eight eyes the new vessels remained localized to the immediate vicinity of photocoagulation marks. In four eyes neovascular fronds infiltrated the subretinal space for distances up to 6 disk diameters from the point of entry into the retina. In the two eyes choroidovitreal neovascular complexes developed but rapidly regressed shortly after gaining the vitreous cavity. Fluorescein angiography demonstrated that all neovascular fronds were grossly incompetent to dye but that formed feeding channels had some degree of integrity. Light microscopic studies showed the proliferating networks to be composed of capillaries with well-formed basement membranes and more mature vessels with the basic structure of choroidal arteries and veins.

Clinical features of schizophrenia and linkage to chromosomes 5q, 6p, 8p, and 10p in the Irish Study of High-Density Schizophrenia Families

Schizophrenia is clinically heterogeneous. Recent linkage studies suggest that multiple genes are important in the etiology of schizophrenia. The authors examined the hypothesis of whether the clinical variability in schizophrenia is due to genetic heterogeneity.

Clinical features of psychotic disorders and polymorphisms in HT2A, DRD2, DRD4, SLC6A3 (DAT1), and BDNF:a family based association study

Schizophrenia is clinically heterogeneous and multidimensional, but it is not known whether this is due to etiological heterogeneity. Previous studies have not consistently reported association between any specific polymorphisms and clinical features of schizophrenia, and have primarily used case-control designs. We tested for the presence of association between clinical features and polymorphisms in the genes for the serotonin 2A receptor (HT2A), dopamine receptor types 2 and 4, dopamine transporter (SLC6A3), and brain-derived neurotrophic factor (BDNF). Two hundred seventy pedigrees were ascertained on the basis of having two or more members with schizophrenia or poor outcome schizoaffective disorder. Diagnoses were made using a structured interview based on the SCID. All patients were rated on the major symptoms of schizophrenia scale (MSSS), integrating clinical and course features throughout the course of illness. Factor analysis revealed positive, negative, and affective symptom factors. The program QTDT was used to implement a family-based test of association for quantitative traits, controlling for age and sex. We found suggestive evidence of association between the His452Tyr polymorphism in HT2A and affective symptoms (P = 0.02), the 172-bp allele of BDNF and negative symptoms (P = 0.04), and the 480-bp allele in SLC6A3 (= DAT1) and negative symptoms (P = 0.04). As total of 19 alleles were tested, we cannot rule out false positives. However, given prior evidence of involvement of the proteins encoded by these genes in psychopathology, our results suggest that more attention should be focused on the impact of these alleles on clinical features of schizophrenia.

Relationship between a high-risk haplotype in the DTNBP1 (dysbindin) gene and clinical features of schizophrenia

The purpose of this study was to determine whether a haplotype in the dystrobrevin binding protein 1 (DTNBP1) gene previously associated with schizophrenia not only increases the susceptibility to psychotic illness but also to a more or less clinically specific form of psychotic illness.