How well do services for young people with long term conditions deliver features proposed to improve transition?

PubMed

Colver, A; Pearse, R; Watson, R M; Fay, M; Rapley, T; Mann, K D; Le Couteur, A; Parr, J R; McConachie, H

2018-05-08

For young people with long-term conditions, transition from child to adult-oriented health services is a critical period which, if not managed well, may lead to poor outcomes. There are features of transition services which guidance and research suggest improve outcomes. We studied nine such features, calling them 'proposed beneficial features': age-banded clinic; meet adult team before transfer; promotion of health self-efficacy; written transition plan; appropriate parent involvement; key worker; coordinated team; holistic life-skills training; transition manager for clinical team. We aimed to describe the extent to which service providers offer these nine features, and to compare this with young people's reported experience of them. A longitudinal, mixed methods study followed 374 young people as their care moved from child to adult health services. Participants had type 1 diabetes, cerebral palsy or autism spectrum disorder with additional mental health difficulties. Data are reported from the first two visits, one year apart. Three hundred four (81.3%) of the young people took part in the second visit (128 with diabetes, 91 with autism, 85 with cerebral palsy). Overall, the nine proposed beneficial features of transition services were poorly provided. Fewer than half of services stated they provided an age-banded clinic, written transition plan, transition manager for clinical team, a protocol for promotion of health self-efficacy, or holistic life-skills training. To varying degrees, young people reported that they had not experienced the features which services said they provided. For instance, the agreement for written transition plan, holistic life-skills training and key worker, was 30, 43 and 49% respectively. Agreement was better for appropriate parent involvement, age-banded clinic, promotion of health self-efficacy and coordinated team at 77, 77, 80 and 69% respectively. Variation in the meaning of the features as experienced by young people and families was evident from qualitative interviews and observations. UK services provide only some of the nine proposed beneficial features for supporting healthcare transition of young people with long term conditions. Observational studies or trials which examine the influence of features of transition services on outcomes should ensure that the experiences of young people and families are captured, and not rely on service specifications.

The Use of Visual Arts as a Window to Diagnosing Medical Pathologies.

PubMed

Bramstedt, Katrina A

2016-08-01

Observation is a key step preceding diagnosis, prognostication, and treatment. Careful patient observation is a skill that is learned but rarely explicitly taught. Furthermore, proper clinical observation requires more than a glance; it requires attention to detail. In medical school, the art of learning to look can be taught using the medical humanities and especially visual arts such as paintings and film. Research shows that such training improves not only observation skills but also teamwork, listening skills, and reflective and analytical thinking. Overall, the use of visual arts in medical school curricula can build visual literacy: the capacity to identify and analyze facial features, emotions, and general bodily presentations, including contextual features such as clothing, hair, and body art. With the ability to formulate and convey a detailed "picture" of the patient, clinicians can integrate aesthetic and clinical knowledge, helping facilitate the diagnosing of medical pathologies. © 2016 American Medical Association. All Rights Reserved.

Circulating D-dimer level correlates with disease characteristics in hepatoblastoma patients

PubMed Central

Zhang, BinBin; Liu, GongBao; Liu, XiangQi; Zheng, Shan; Dong, Kuiran; Dong, Rui

2017-01-01

Abstract Objectives: Hepatoblastoma (HB) is the most common pediatric liver malignancy, typically affecting children within the first 4 years of life. However, only a few validated blood biomarkers are used in clinical evaluation. The current study explored the clinical application and significance of D-dimer levels in patients with HB. Method: Forty-four patients with HB were included in this retrospective study. D-dimer and plasma fibrinogen levels were examined, and their correlation with other clinical features was analyzed. D-dimer and plasma fibrinogen levels were examined between HB and other benign hepatic tumors. Results: D-dimer levels were significantly associated with high-risk HB features, such as advanced stage and high α-fetoprotein (AFP) levels. Higher D-dimer levels were observed in stage 4 patients compared with stage 1/2/3 patients (P = .028). Higher D-dimer levels were also observed in patients with higher AFP levels before chemotherapy compared with patients with lower AFP levels after chemotherapy (P< 0.001). In addition, higher D-dimer levels were observed in HB compared with other benign hepatic tumors such as hepatic hemangioma and hepatocellular adenoma (P = .012). No significant difference in D-dimer levels was found between sex (P = .503) and age (≥12 vs <12 months, P = .424). There was no significant difference in plasma fibrinogen levels between sex or age and high-risk HB features, such as advanced stage and high AFP levels. Conclusions: Elevated D-dimer levels could be a useful determinant biomarker for high-risk features in patients with HB. This finding also supports the clinical application of D-dimer in HB. PMID:29381980

Atypical depression is more common than melancholic in fibromyalgia: an observational cohort study.

PubMed

Ross, Rebecca L; Jones, Kim D; Ward, Rachel L; Wood, Lisa J; Bennett, Robert M

2010-06-14

It has been postulated that atypical and melancholic depression subtypes exist in depressed fibromyalgia (FM) patients, yet no study has empirically tested this hypothesis. The purpose of this study is to determine whether major depressive disorder (MDD) with atypical features and MDD with melancholic features occurs in a FM sample and to describe their demographic, clinical and diagnostic characteristics. An observational cohort study using a descriptive cross-sectional design recruited a convenience sample of 76 outpatients with FM from an academic rheumatology clinic and a community mental health practice. Diagnoses of FM were confirmed using the 1990 ACR classification guidelines. Diagnoses of MDD and diagnostic subtypes were determined using the DSM-IV-TR criteria. Clinical characteristics were measured using the Fibromyalgia Impact Questionnaire, Structured Interview Guide for the Hamilton Depression Rating Scale with Atypical Depression Supplement and other standardized instruments. Odds ratios were computed on subtype-specific diagnostic criteria. Correlations assessed associations between subtype diagnoses and diagnostic criteria. Of the 76 subjects with FM, 11.8% (n = 9) were euthymic, 52.6% (n = 40) met diagnostic criteria for MDD with atypical features and 35.6% (n = 27) for MDD with melancholic features. Groups did not differ on demographic characteristics except for gender (p = 0.01). The non-depressed and atypical groups trended toward having a longer duration of FM symptoms (18.05 yrs. +/- 12.83; 20.36 yrs. +/- 15.07) compared to the melancholic group (14.11 yrs. +/- 8.82; p = 0.09). The two depressed groups experienced greater severity on all clinical features compared to the non-depressed group. The atypical group did not differ clinically from the melancholic group except the latter experienced greater depression severity (p = 0.001). The atypical group demonstrated the highest prevalence and correlations with atypical-specific diagnostic criteria: (e.g., weight gain/ increased appetite: OR = 3.5, p = 0.02), as did the melancholic group for melancholic-specific criteria: (e.g., anhedonia: OR = 20, p < 0.001). Depressed fibromyalgia patients commonly experience both atypical and melancholic depressive features; however, in this study, atypical depression was 1.5 times more common than melancholic depression. This finding may have significant research and clinical implications.

An autopsy study of combined pulmonary fibrosis and emphysema: correlations among clinical, radiological, and pathological features

PubMed Central

2014-01-01

Background Clinical evaluation to differentiate the characteristic features of pulmonary fibrosis and emphysema is often difficult in patients with combined pulmonary fibrosis and emphysema (CPFE), but diagnosis of pulmonary fibrosis is important for evaluating treatment options and the risk of acute exacerbation of interstitial pneumonia of such patients. As far as we know, it is the first report describing a correlation among clinical, radiological, and whole-lung pathological features in an autopsy cases of CPFE patients. Methods Experts retrospectively reviewed the clinical charts and examined chest computed tomography (CT) images and pathological findings of an autopsy series of 22 CPFE patients, and compared these with findings from 8 idiopathic pulmonary fibrosis (IPF) patients and 17 emphysema-alone patients. Results All patients had a history of heavy smoking. Forced expiratory volume in 1 s/forced vital capacity (FEV1/FVC%) was significantly lower in the emphysema-alone group than the CPFE and IPF-alone groups. The percent predicted diffusing capacity of the lung for carbon monoxide (DLCO%) was significantly lower in the CPFE group than the IPF- and emphysema-alone groups. Usual interstitial pneumonia (UIP) pattern was observed radiologically in 15 (68.2%) CPFE and 8 (100%) IPF-alone patients and was pathologically observed in all patients from both groups. Pathologically thick-cystic lesions involving one or more acini with dense wall fibrosis and occasional fibroblastic foci surrounded by honeycombing and normal alveoli were confirmed by post-mortem observation as thick-walled cystic lesions (TWCLs). Emphysematous destruction and enlargement of membranous and respiratory bronchioles with fibrosis were observed in the TWCLs. The cystic lesions were always larger than the cysts of honeycombing. The prevalence of both radiological and pathological TWCLs was 72.7% among CPFE patients, but no such lesions were observed in patients with IPF or emphysema alone (p = 0.001). The extent of emphysema in CPFE patients with TWCLs was greater than that in patients without such lesions. Honeycombing with emphysema was also observed in 11 CPFE patients. Conclusions TWCLs were only observed in the CPFE patients. They were classified as lesions with coexistent fibrosing interstitial pneumonia and emphysema, and should be considered an important pathological and radiological feature of CPFE. PMID:24972672

Accreditation of Predoctoral Dental Education: Clinical Outcomes Assessment.

ERIC Educational Resources Information Center

Boyd, Marcia A.; And Others

1991-01-01

The Curriculum Outcomes Review and Evaluation system of outcomes assessment for accreditation of Canadian dental faculties is described. Features include chart reviews; evaluation of diagnosis and treatment planning and case presentation for a student sample; structured clinical observation; presite visit survey; and solicitation of feedback from…

Analysis of underlying causes of inter-expert disagreement in retinopathy of prematurity diagnosis. Application of machine learning principles.

PubMed

Ataer-Cansizoglu, E; Kalpathy-Cramer, J; You, S; Keck, K; Erdogmus, D; Chiang, M F

2015-01-01

Inter-expert variability in image-based clinical diagnosis has been demonstrated in many diseases including retinopathy of prematurity (ROP), which is a disease affecting low birth weight infants and is a major cause of childhood blindness. In order to better understand the underlying causes of variability among experts, we propose a method to quantify the variability of expert decisions and analyze the relationship between expert diagnoses and features computed from the images. Identification of these features is relevant for development of computer-based decision support systems and educational systems in ROP, and these methods may be applicable to other diseases where inter-expert variability is observed. The experiments were carried out on a dataset of 34 retinal images, each with diagnoses provided independently by 22 experts. Analysis was performed using concepts of Mutual Information (MI) and Kernel Density Estimation. A large set of structural features (a total of 66) were extracted from retinal images. Feature selection was utilized to identify the most important features that correlated to actual clinical decisions by the 22 study experts. The best three features for each observer were selected by an exhaustive search on all possible feature subsets and considering joint MI as a relevance criterion. We also compared our results with the results of Cohen's Kappa [36] as an inter-rater reliability measure. The results demonstrate that a group of observers (17 among 22) decide consistently with each other. Mean and second central moment of arteriolar tortuosity is among the reasons of disagreement between this group and the rest of the observers, meaning that the group of experts consider amount of tortuosity as well as the variation of tortuosity in the image. Given a set of image-based features, the proposed analysis method can identify critical image-based features that lead to expert agreement and disagreement in diagnosis of ROP. Although tree-based features and various statistics such as central moment are not popular in the literature, our results suggest that they are important for diagnosis.

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

PubMed

Hamilton, Eline M C; Tekturk, Pinar; Cialdella, Fia; van Rappard, Diane F; Wolf, Nicole I; Yalcinkaya, Cengiz; Çetinçelik, Ümran; Rajaee, Ahmad; Kariminejad, Ariana; Paprocka, Justyna; Yapici, Zuhal; Bošnjak, Vlatka Mejaški; van der Knaap, Marjo S

2018-04-17

To provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) and identify possible differentiating features. We performed an international multi-institutional, cross-sectional observational study of the clinical and MRI characteristics in patients with genetically confirmed MLC. Clinical information was obtained by questionnaires for physicians and retrospective chart review. We included 204 patients with classic MLC, 187 of whom had recessive mutations in MLC1 (MLC1 variant) and 17 in GLIALCAM (MLC2A variant) and 38 patients with remitting MLC caused by dominant GLIALCAM mutations (MLC2B variant). We observed a relatively wide variability in neurologic disability among patients with classic MLC. No clinical differences could be identified between patients with MLC1 and MLC2A. Patients with MLC2B invariably had a milder phenotype with preservation of motor function, while intellectual disability and autism were relatively frequent. Systematic MRI review revealed no MRI features that distinguish between MLC1 and MLC2A. Radiologic improvement was observed in all patients with MLC2B and also in 2 patients with MLC1. In MRIs obtained in the early disease stage, absence of signal abnormalities of the posterior limb of the internal capsule and cerebellar white matter and presence of only rarefied subcortical white matter instead of true subcortical cysts were suggestive of MLC2B. Clinical and MRI features did not distinguish between classic MLC with MLC1 or GLIALCAM mutations. Absence of signal abnormalities of the internal capsule and cerebellar white matter are MRI findings that point to the remitting phenotype. Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Clinical and genetic features of diuretic-associated gout: a case-control study.

PubMed

Mitnala, Sirisha; Phipps-Green, Amanda; Franklin, Christopher; Horne, Anne; Stamp, Lisa K; Merriman, Tony R; Dalbeth, Nicola

2016-07-01

Hyperuricaemia and gout are well-recognized complications of diuretic use. The aim of this study was to examine the clinical and genetic features of diuretic-associated gout. Participants (n = 1365) fulfilling the 1977 ARA gout classification criteria, recruited from primary and secondary care, attended a study visit that included a detailed clinical assessment. Use of diuretic therapy was recorded during the study visit, and was confirmed by electronic dispensing data [n = 426 (31.2%) on diuretics]. Gout-associated single nucleotide polymorphisms were genotyped. Clinical and genetic features of diuretic-associated gout were analysed using a case-control study design (diuretics vs no diuretics). In the diuretic group there were more women, higher rates of comorbid conditions, higher BMI and lower estimated glomerular filtration rate compared with those not taking diuretics. Gout disease duration, frequency of gout flares and presence of tophi were similar in the two groups. Patients on diuretics had higher age of gout presentation and higher recorded serum urate. The ABCG2 rs2231142 risk allele was present less frequently in the diuretic group (36.1%) compared with those not on diuretics (47.6%, P = 1.2 × 10(-4)). The differences in ABCG2 were observed in both men and women with gout. Diuretic-associated gout represents a medically complex condition. Although age of gout onset is later and serum urate concentrations are higher in those on diuretics, other clinical features of gout are similar. The observed differences in the ABCG2 risk allele frequency suggest that some genetic factors play a less dominant role in diuretic-associated gout compared with primary gout. © The Author 2016. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Unusual progression and subsequent improvement in cystic lung disease in a child with radiation-induced lung injury

PubMed Central

Wolf, Michael S.; Chadha, Ashley D.; Carroll, Clinton M.; Borinstein, Scott C.

2014-01-01

Radiation-induced lung disease is a known complication of therapeutic lung irradiation, but the features have not been well described in children. We report the clinical, radiologic and histologic features of interstitial lung disease (ILD) in a 4-year-old child who had previously received lung irradiation as part of successful treatment for metastatic Wilms tumor. Her radiologic abnormalities and clinical symptoms developed in an indolent manner. Clinical improvement gradually occurred with corticosteroid therapy. However, the observed radiologic progression from interstitial and reticulonodular opacities to diffuse cystic lung disease, with subsequent improvement, is striking and has not been previously described in children. PMID:25434733

Measuring how typical and atypical minds read other's intentions. Comment on "Seeing mental states: An experimental strategy for measuring the observability of other minds" by Cristina Becchio et al.

NASA Astrophysics Data System (ADS)

Parma, Valentina; Sartori, Luisa; Castiello, Umberto

2018-03-01

Becchio et al. [1] propose a model to render other's minds observable against the Unobservability Principle. Such model develops over four, distinct steps. First, it provides experimental evidence indicating that mental states (i.e., intentions) can be encoded in behavioral patterns (e.g., movement kinematics). Second, it provides strategies to test the efficiency of the quantification of such intention-related behavioral manifestations (i.e., resolution of the uncertainty between two intentions based on different patterns of accumulation of kinematic parameters). Third, it indicates specific features of the observed behavior that viewers use to detect different intentions (i.e., a series of decision rules based on kinematic features through which intention categorization occurs). Fourth, it proposes a manner to manipulate such specific behavioral features so that an observer can detect different intentions, based on how informative such behavioral features are. We see in this operational/experimental approach a significant contribution to the theoretical debate on the possibility to observe mental states, allowing the direct testing of the unobservability principle and therefore providing falsifiable hypotheses. Besides this already central aspect, we believe this approach holds promise to the elucidation of clinical open questions, such as those posed by autism spectrum disorders (ASD). Indeed, experimentally evaluating the ability to observe and manipulate other's intentions allow us to quantify with high accuracy the deficits in the representation of other people's minds that so chiefly characterize ASD as well as the outcomes of treatment options focusing on this aspect. Here we suggest a few clarifications and extensions of the proposed model which will make it possibly tailored for clinical applications.

Histopathological characterization of corrosion product associated adverse local tissue reaction in hip implants: a study of 285 cases.

PubMed

Ricciardi, Benjamin F; Nocon, Allina A; Jerabek, Seth A; Wilner, Gabrielle; Kaplowitz, Elianna; Goldring, Steven R; Purdue, P Edward; Perino, Giorgio

2016-01-01

Adverse local tissue reaction (ALTR), characterized by a heterogeneous cellular inflammatory infiltrate and the presence of corrosion products in the periprosthetic soft tissues, has been recognized as a mechanism of failure in total hip replacement (THA). Different histological subtypes may have unique needs for longitudinal clinical follow-up and complication rates after revision arthroplasty. The purpose of this study was to describe the histological patterns observed in the periprosthetic tissue of failed THA in three different implant classes due to ALTR and their association with clinical features of implant failure. Consecutive patients presenting with ALTR from three major hip implant classes (N = 285 cases) were identified from our prospective Osteolysis Tissue Database and Repository. Clinical characteristics including age, sex, BMI, length of implantation, and serum metal ion levels were recorded. Retrieved synovial tissue morphology was graded using light microscopy. Clinical characteristics and features of synovial tissue analysis were compared between the three implant classes. Histological patterns of ALTR identified from our observations and the literature were used to classify each case. The association between implant class and histological patterns was compared. Our histological analysis demonstrates that ALTR encompasses three main histological patterns: 1) macrophage predominant, 2) mixed lymphocytic and macrophagic with or without features of associated with hypersensitivity/allergy or response to particle toxicity (eosinophils/mast cells and/or lymphocytic germinal centers), and 3) predominant sarcoid-like granulomas. Implant classification was associated with histological pattern of failure, and the macrophagic predominant pattern was more common in implants with metal-on-metal bearing surfaces (MoM HRA and MoM LHTHA groups). Duration of implantation and composition of periprosthetic cellular infiltrates was significantly different amongst the three implant types examined suggesting that histopathological features of ALTR may explain the variability of clinical implant performance in these cases. ALTR encompasses a diverse range of histological patterns, which are reflective of both the implant configuration independent of manufacturer and clinical features such as duration of implantation. The macrophagic predominant pattern and its mechanism of implant failure represent an important subgroup of ALTR which could become more prominent with increased length of implantation.

Cultivating cohort studies for observational translational research.

PubMed

Ransohoff, David F

2013-04-01

"Discovery" research about molecular markers for diagnosis, prognosis, or prediction of response to therapy has frequently produced results that were not reproducible in subsequent studies. What are the reasons, and can observational cohorts be cultivated to provide strong and reliable answers to those questions? Experimental Selected examples are used to illustrate: (i) what features of research design provide strength and reliability in observational studies about markers of diagnosis, prognosis, and response to therapy? (ii) How can those design features be cultivated in existing observational cohorts, for example, within randomized controlled clinical trial (RCT), other existing observational research studies, or practice settings like health maintenance organization (HMOs)? Examples include a study of RNA expression profiles of tumor tissue to predict prognosis of breast cancer, a study of serum proteomics profiles to diagnose ovarian cancer, and a study of stool-based DNA assays to screen for colon cancer. Strengths and weaknesses of observational study design features are discussed, along with lessons about how features that help assure strength might be "cultivated" in the future. By considering these examples and others, it may be possible to develop a process of "cultivating cohorts" in ongoing RCTs, observational cohort studies, and practice settings like HMOs that have strong features of study design. Such an effort could produce sources of data and specimens to reliably answer questions about the use of molecular markers in diagnosis, prognosis, and response to therapy.

Clinicopathological features of pulmonary cryptococcosis with cryptococcal titan cells: a comparative analysis of 27 cases.

PubMed

Wang, Jing-Mei; Zhou, Qiang; Cai, Hou-Rong; Zhuang, Yi; Zhang, Yi-Fen; Xin, Xiao-Yan; Meng, Fan-Qing; Wang, Ya-Ping

2014-01-01

In addition to the typical size, Cryptococcus neoformans can enlarge its size to form titan cells during infection, and its diameter can reach up to 100 μm. Clinical reports about cryptococcal titan cells are rare. Most studies focus on aspects of animal models of infection with titan cells. Herein, we report the clinical and imaging characteristics and histopathologic features of 3 patients with titan cells and 27 patients with pathogens of typical size, and describe the morphological characteristics of titan cells in details. Histologically, 3 patients with titan cells show necrosis, fibrosis and macrophage accumulation. The titan cells appear in necrotic tissue and between macrophages, and have thick wall with unstained halo around them and diameters range from 20 to 80 μm with characteristic of narrow-necked single budding. There are also organisms with typical size. All 27 patients with normal pathogens show epithelioid granulomatous lesions. There is no significantly difference in clinical and imaging feature between the two groups. Cryptococcus neoformans exhibits a striking morphological change for the formation of titan cells during pulmonary infection, which will result in misdiagnosis and under diagnosis. The histopathological changes may be new manifestation, which need to be further confirmed by the study with animal models of infection and the observation of more clinical cases. Careful observation of the tissue sections is necessary.

Clinicopathological observations in experimental peste des petit ruminants virus and Mannheimia haemolytica A:2 co-infection in goats.

PubMed

Emikpe, B O; Akpavie, S O

2012-12-18

The experiment describes for the first time the clinicopathological features of the co-infection of Peste des petit Ruminants (PPR) virus and Mannheimia haemolytica,in goats. Twenty clinically healthy goats, six months of age were used. 15 goats were infected by intratracheal inoculation of 1ml of pure cultured 106.5 TCID50 PPR virus grown in Baby hamster kidney cell lines, and a week later,1 ml of pure culture (109 CFU) of Mannheimia haemolytica (MH)A2 to study its clinico-pathological features and five goats served as controls. The clinical signs were observed and two goats were euthanized at predetermined intervals for gross examinations, bacteriological, virological and histopathological investigations on tissues collected using standard techniques. The clinical signs were severe and the order of manifestation was anorexia, pyrexia, dyspnea, oculo-nasal discharge, recumbency and death. The lesions observed were severe fibrinous bronchointerstitial pneumonia and pleurisy with thickened alveolar septa, edema and neutrophilic infiltrations of the interstitium with giant cells. There was also marked erosive stomatitis and acute enteritis. The average percentage lung consolidation for the infection was 7.01% and the right lung was more affected (p<0.05) while the overall mortality was 33.3%. MHA:2 and PPR virus were re-isolated from the lungs. The clinicopathological features observed showed that goats were susceptible to co- infection of PPR and Mannheimiosis which was severe and fatal. The data should help veterinarians and other medical experts to recognize cases of bacterial complicated viral infection and be informed of the approach to the treatment of such conditions.

Literary psychiatric observation and diagnosis through the ages: King Lear revisited.

PubMed

Truskinovsky, Alexander M

2002-03-01

Shakespeare's plays, and in particular King Lear, have been a favorite source of clinical observation and diagnosis for psychiatrists for the past two centuries. Most authors agree that the description of Lear's mental symptoms is remarkably consistent and close to life. This article summarizes previous attempts to diagnose the mental illness of King Lear, featuring, among others, such entities as mania, senile dementia, delirium, depression, and brief reactive psychosis, and offers a new diagnosis according to the modern diagnostic criteria, namely, bipolar I disorder, most recent episode manic, severe with psychotic features.

Novel Tool for Complete Digitization of Paper Electrocardiography Data

PubMed Central

Harless, Chris; Shah, Amit J.; Wick, Carson A.; Mcclellan, James H.

2013-01-01

Objective: We present a Matlab-based tool to convert electrocardiography (ECG) information from paper charts into digital ECG signals. The tool can be used for long-term retrospective studies of cardiac patients to study the evolving features with prognostic value. Methods and procedures: To perform the conversion, we: 1) detect the graphical grid on ECG charts using grayscale thresholding; 2) digitize the ECG signal based on its contour using a column-wise pixel scan; and 3) use template-based optical character recognition to extract patient demographic information from the paper ECG in order to interface the data with the patients' medical record. To validate the digitization technique: 1) correlation between the digital signals and signals digitized from paper ECG are performed and 2) clinically significant ECG parameters are measured and compared from both the paper-based ECG signals and the digitized ECG. Results: The validation demonstrates a correlation value of 0.85–0.9 between the digital ECG signal and the signal digitized from the paper ECG. There is a high correlation in the clinical parameters between the ECG information from the paper charts and digitized signal, with intra-observer and inter-observer correlations of 0.8–0.9 \\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{upgreek} \\usepackage{mathrsfs} \\setlength{\\oddsidemargin}{-69pt} \\begin{document} }{}$({\\rm p}<{0.05})$\\end{document}, and kappa statistics ranging from 0.85 (inter-observer) to 1.00 (intra-observer). Conclusion: The important features of the ECG signal, especially the QRST complex and the associated intervals, are preserved by obtaining the contour from the paper ECG. The differences between the measures of clinically important features extracted from the original signal and the reconstructed signal are insignificant, thus highlighting the accuracy of this technique. Clinical impact: Using this type of ECG digitization tool to carry out retrospective studies on large databases, which rely on paper ECG records, studies of emerging ECG features can be performed. In addition, this tool can be used to potentially integrate digitized ECG information with digital ECG analysis programs and with the patient's electronic medical record. PMID:26594601

Magnetic resonance imaging features of complex Chiari malformation variant of Chiari 1 malformation.

PubMed

Moore, Hannah E; Moore, Kevin R

2014-11-01

Complex Chiari malformation is a subgroup of Chiari 1 malformation with distinct imaging features. Children with complex Chiari malformation are reported to have a more severe clinical phenotype and sometimes require more extensive surgical treatment than those with uncomplicated Chiari 1 malformation. We describe reported MR imaging features of complex Chiari malformation and evaluate the utility of craniometric parameters and qualitative anatomical observations for distinguishing complex Chiari malformation from uncomplicated Chiari 1 malformation. We conducted a retrospective search of the institutional imaging database using the keywords "Chiari" and "Chiari 1" to identify children imaged during the 2006-2011 time period. Children with Chiari 2 malformation were excluded after imaging review. We used the first available diagnostic brain or cervical spine MR study for data measurement. Standard measurements and observations were made of obex level (mm), cerebellar tonsillar descent (mm), perpendicular distance to basion-C2 line (pB-C2, mm), craniocervical angle (degrees), clivus length, and presence or absence of syringohydromyelia, basilar invagination and congenital craniovertebral junction osseous anomalies. After imaging review, we accessed the institutional health care clinical database to determine whether each subject clinically met criteria for Chiari 1 malformation or complex Chiari malformation. Obex level and craniocervical angle measurements showed statistically significant differences between the populations with complex Chiari malformation and uncomplicated Chiari 1 malformation. Cerebellar tonsillar descent and perpendicular distance to basion-C2 line measurements trended toward but did not meet statistical significance. Odontoid retroflexion, craniovertebral junction osseous anomalies, and syringohydromyelia were all observed proportionally more often in children with complex Chiari malformation than in those with Chiari 1 malformation. Characteristic imaging features of complex Chiari malformation, especially obex level, permit its distinction from the more common uncomplicated Chiari 1 malformation.

Discrimination between Alzheimer's Disease and Late Onset Bipolar Disorder Using Multivariate Analysis.

PubMed

Besga, Ariadna; Gonzalez, Itxaso; Echeburua, Enrique; Savio, Alexandre; Ayerdi, Borja; Chyzhyk, Darya; Madrigal, Jose L M; Leza, Juan C; Graña, Manuel; Gonzalez-Pinto, Ana Maria

2015-01-01

Late onset bipolar disorder (LOBD) is often difficult to distinguish from degenerative dementias, such as Alzheimer disease (AD), due to comorbidities and common cognitive symptoms. Moreover, LOBD prevalence in the elder population is not negligible and it is increasing. Both pathologies share pathophysiological neuroinflammation features. Improvements in differential diagnosis of LOBD and AD will help to select the best personalized treatment. The aim of this study is to assess the relative significance of clinical observations, neuropsychological tests, and specific blood plasma biomarkers (inflammatory and neurotrophic), separately and combined, in the differential diagnosis of LOBD versus AD. It was carried out evaluating the accuracy achieved by classification-based computer-aided diagnosis (CAD) systems based on these variables. A sample of healthy controls (HC) (n = 26), AD patients (n = 37), and LOBD patients (n = 32) was recruited at the Alava University Hospital. Clinical observations, neuropsychological tests, and plasma biomarkers were measured at recruitment time. We applied multivariate machine learning classification methods to discriminate subjects from HC, AD, and LOBD populations in the study. We analyzed, for each classification contrast, feature sets combining clinical observations, neuropsychological measures, and biological markers, including inflammation biomarkers. Furthermore, we analyzed reduced feature sets containing variables with significative differences determined by a Welch's t-test. Furthermore, a battery of classifier architectures were applied, encompassing linear and non-linear Support Vector Machines (SVM), Random Forests (RF), Classification and regression trees (CART), and their performance was evaluated in a leave-one-out (LOO) cross-validation scheme. Post hoc analysis of Gini index in CART classifiers provided a measure of each variable importance. Welch's t-test found one biomarker (Malondialdehyde) with significative differences (p < 0.001) in LOBD vs. AD contrast. Classification results with the best features are as follows: discrimination of HC vs. AD patients reaches accuracy 97.21% and AUC 98.17%. Discrimination of LOBD vs. AD patients reaches accuracy 90.26% and AUC 89.57%. Discrimination of HC vs LOBD patients achieves accuracy 95.76% and AUC 88.46%. It is feasible to build CAD systems for differential diagnosis of LOBD and AD on the basis of a reduced set of clinical variables. Clinical observations provide the greatest discrimination. Neuropsychological tests are improved by the addition of biomarkers, and both contribute significantly to improve the overall predictive performance.

The clinical and cultural factors in classifying low back pain patients within Greece: a qualitative exploration of Greek health professionals.

PubMed

Billis, Evdokia V; McCarthy, Christopher J; Stathopoulos, Ioannis; Kapreli, Eleni; Pantzou, Paulina; Oldham, Jacqueline A

2007-06-01

Identifying homogenous subgroups of low back pain (LBP) patients is considered a priority in musculoskeletal rehabilitation and is believed to enhance clinical outcomes. In order to achieve this, the specific features of each subgroup need to be identified. The aim of this study was to develop a list of clinical and cultural features that are included in the assessment of LBP patients in Greece, among health professionals. This 'list' will be, utilized in a clinical study for developing LBP subgroups. Three focus groups were conducted, each one comprising health professionals with homogenous characteristics and all coordinated by a single moderator. There were: 11 physiotherapists (PTs) with clinical experience in LBP patients, seven PTs specialized in LBP management, and five doctors with a particular spinal interest. The focus of discussions was to develop a list of clinical and cultural features that were important in the examination of LBP. Content analysis was performed by two researchers. Clinicians and postgraduates developed five categories within the History (Present Symptoms, History of Symptoms, Function, Psychosocial, Medical History) and six categories within the Physical Examination (Observation, Neurological Examination, Active and Passive Movements, Muscle Features and Palpation). The doctors identified four categories in History (Symptomatology, Function, Psychosocial, Medical History) and an additional in Physical Examination (Special Tests). All groups identified three cultural categories; Attitudes of Health Professionals, Patients' Attitudes and Health System influences. An extensive Greek 'list' of clinical and cultural features was developed from the groups' analysis. Although similarities existed in most categories, there were several differences across the three focus groups which will be discussed.

Is Early-onset in Major Depression a Predictor of Specific Clinical Features with More Impaired Social Function?

PubMed Central

Liu, Yan-Hong; Chen, Lin; Su, Yun-Ai; Fang, Yi-Ru; Srisurapanont, Manit; Hong, Jin Pyo; Hatim, Ahmad; Chua, Hong Choon; Bautista, Dianne; Si, Tian-Mei

2015-01-01

Background: Early-onset major depressive disorder (MDD) (EOD) is often particularly malignant due to its special clinical features, accompanying impaired social function, protracted recovery time, and frequent recurrence. This study aimed to observe the effects of age onset on clinical characteristics and social function in MDD patients in Asia. Methods: In total, 547 out-patients aged 18–65 years who were from 13 study sites in five Asian countries were included. These patients had MDD diagnose according to the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition criteria. Clinical features and social function were assessed using Symptom Checklist-90-revised (SCL-90-R) and Sheehan Disability Scale (SDS). Quality of life was assessed by a 36-item Short-form Health Survey (SF-36). Analyses were performed using a continuous or dichotomous (cut-off: 30 years) age-of-onset indicator. Results: Early-onset MDD (EOD, <30 years) was associated with longer illness (P = 0.003), unmarried status (P < 0.001), higher neuroticism (P ≤ 0.002) based on the SCL-90-R, and more limited social function and mental health (P = 0.006, P = 0.007) based on the SF-36 and SDS. The impairment of social function and clinical severity were more prominent at in-patients with younger onset ages. Special clinical features and more impaired social function and quality of life were associated with EOD, as in western studies. Conclusions: EOD often follows higher levels of neuroticism. Age of onset of MDD may be a predictor of clinical features and impaired social function, allowing earlier diagnosis and treatment. PMID:25758278

A multiscale product approach for an automatic classification of voice disorders from endoscopic high-speed videos.

PubMed

Unger, Jakob; Schuster, Maria; Hecker, Dietmar J; Schick, Bernhard; Lohscheller, Joerg

2013-01-01

Direct observation of vocal fold vibration is indispensable for a clinical diagnosis of voice disorders. Among current imaging techniques, high-speed videoendoscopy constitutes a state-of-the-art method capturing several thousand frames per second of the vocal folds during phonation. Recently, a method for extracting descriptive features from phonovibrograms, a two-dimensional image containing the spatio-temporal pattern of vocal fold dynamics, was presented. The derived features are closely related to a clinically established protocol for functional assessment of pathologic voices. The discriminative power of these features for different pathologic findings and configurations has not been assessed yet. In the current study, a collective of 220 subjects is considered for two- and multi-class problems of healthy and pathologic findings. The performance of the proposed feature set is compared to conventional feature reduction routines and was found to clearly outperform these. As such, the proposed procedure shows great potential for diagnostical issues of vocal fold disorders.

Novel Tool for Complete Digitization of Paper Electrocardiography Data.

PubMed

Ravichandran, Lakshminarayan; Harless, Chris; Shah, Amit J; Wick, Carson A; Mcclellan, James H; Tridandapani, Srini

We present a Matlab-based tool to convert electrocardiography (ECG) information from paper charts into digital ECG signals. The tool can be used for long-term retrospective studies of cardiac patients to study the evolving features with prognostic value. To perform the conversion, we: 1) detect the graphical grid on ECG charts using grayscale thresholding; 2) digitize the ECG signal based on its contour using a column-wise pixel scan; and 3) use template-based optical character recognition to extract patient demographic information from the paper ECG in order to interface the data with the patients' medical record. To validate the digitization technique: 1) correlation between the digital signals and signals digitized from paper ECG are performed and 2) clinically significant ECG parameters are measured and compared from both the paper-based ECG signals and the digitized ECG. The validation demonstrates a correlation value of 0.85-0.9 between the digital ECG signal and the signal digitized from the paper ECG. There is a high correlation in the clinical parameters between the ECG information from the paper charts and digitized signal, with intra-observer and inter-observer correlations of 0.8-0.9 (p < 0.05), and kappa statistics ranging from 0.85 (inter-observer) to 1.00 (intra-observer). The important features of the ECG signal, especially the QRST complex and the associated intervals, are preserved by obtaining the contour from the paper ECG. The differences between the measures of clinically important features extracted from the original signal and the reconstructed signal are insignificant, thus highlighting the accuracy of this technique. Using this type of ECG digitization tool to carry out retrospective studies on large databases, which rely on paper ECG records, studies of emerging ECG features can be performed. In addition, this tool can be used to potentially integrate digitized ECG information with digital ECG analysis programs and with the patient's electronic medical record.

Clinical Features, Etiology, and Outcomes of Community-Acquired Pneumonia in Patients With Diabetes Mellitus

PubMed Central

Di Yacovo, Silvana; Garcia-Vidal, Carolina; Viasus, Diego; Adamuz, Jordi; Oriol, Isabel; Gili, Francesca; Vilarrasa, Núria; García-Somoza, M. Dolors; Dorca, Jordi; Carratalà, Jordi

2013-01-01

Abstract We performed an observational analysis of a prospective cohort of immunocompetent hospitalized adults with community-acquired pneumonia (CAP) to determine the epidemiology, clinical features, and outcomes of pneumonia in patients with diabetes mellitus (DM). We also analyzed the risk factors for mortality and the impact of statins and other cardiovascular drugs on outcomes. Of 2407 CAP episodes, 516 (21.4%) occurred in patients with DM; 483 (97%) had type 2 diabetes, 197 (40%) were on insulin treatment, and 119 (23.9%) had end-organ damage related to DM. Patients with DM had different clinical features compared to the other patients. They were less likely to have acute onset, cough, purulent sputum, and pleural chest pain. No differences in etiology were found between study groups. Patients with DM had more inhospital acute metabolic complications, although the case-fatality rate was similar between the groups. Independent risk factors for mortality in patients with DM were advanced age, bacteremia, septic shock, and gram-negative pneumonia. Patients with end-organ damage related to DM had more inhospital cardiac events and a higher early case-fatality rate than did the overall population. The use of statins and other cardiovascular drugs was not associated with better CAP outcomes in patients with DM. In conclusion, CAP in patients with DM presents different clinical features compared to the features of patients without DM. PMID:23263718

Imaging of gout: an overview.

PubMed

Dalbeth, Nicola; Doyle, Anthony J

2012-12-01

The diverse clinical states and sites of pathology in gout provide challenges when considering the features apparent on imaging. Ideally, an imaging modality should capture all aspects of disease including monosodium urate crystal deposition, acute inflammation, tophus, tissue remodelling and complications of disease. The modalities used in gout include conventional radiography, ultrasonography, magnetic resonance imaging, computed tomography and dual-energy computed tomography. This review discusses the role of each of these imaging modalities in gout, focussing on the imaging characteristics, role in gout diagnosis and role for disease monitoring. Ultrasonography and dual-energy computed tomography are particularly promising methods for both non-invasive diagnosis and monitoring of disease. The observation that ultrasonographic appearances of monosodium urate crystal deposition can be observed in patients with hyperuricaemia but no other clinical features of gout raises important questions about disease definitions. Copyright © 2012 Elsevier Ltd. All rights reserved.

A single center analysis of factors influencing study start-up timeline in clinical trials.

PubMed

Krafcik, Brianna M; Doros, Gheorghe; Malikova, Marina A

2017-11-01

Efficient start-up phase in clinical trials is crucial to execution. The goal was to determine factors contributing to delays. The start-up milestones were assessed for 38 studies and analyzed. Total start-up time was shorter for following studies: device trials, no outsourcing, fewer ancillary services used and in interventional versus observational designs. The use of a centralized Institutional Review Board (IRB) versus a local IRB reduced time to approval. Studies that never enrolled took longer on average to finalize their budget/contract, and obtain IRB than ones that did enroll. Different features of clinical trials can affect timeline of start-up process. An understanding of the impact of each feature allows for optimization.

Tuberculous otitis media: clinical aspects of 12 cases.

PubMed

Nishiike, Suetaka; Irifune, Morihiro; Doi, Katsumi; Osaki, Yasuhiro; Kiuchi, Nobuo

2003-11-01

The clinical features of tuberculous otitis media (TOM) have changed. This study was performed to evaluate changing trends in the clinical manifestations of TOM. We reviewed a series of 12 cases of TOM (13 ears) recently treated at Osaka Prefectural Habikino Hospital. The results showed a mean age of 41 years and a male predominance of 1.4 to 1. Central or total perforations of the tympanic membrane were observed in most cases, but none of the patients had multiple perforations. Nine patients (75%) had active pulmonary tuberculosis. Normal lung status or inactive pulmonary tuberculosis was significantly more frequent in the older age group. Diagnosis of primary TOM required more time than that of secondary TOM. Most cases of primary TOM had high infectiousness of the primary lesion. We summarize the clinical features of patients who should be evaluated for TOM.

Information Technology-Based Interventions to Improve Drug-Drug Interaction Outcomes: A Systematic Review on Features and Effects.

PubMed

Nabovati, Ehsan; Vakili-Arki, Hasan; Taherzadeh, Zhila; Saberi, Mohammad Reza; Medlock, Stephanie; Abu-Hanna, Ameen; Eslami, Saeid

2017-01-01

The purpose of this systematic review was to identify features and effects of information technology (IT)-based interventions on outcomes related to drug-drug interactions (DDI outcomes). A literature search was conducted in Medline, EMBASE, and the Cochrane Library for published English-language studies. Studies were included if a main outcome was related to DDIs, the intervention involved an IT-based system, and the study design was experimental or observational with controls. Study characteristics, including features and effects of IT-based interventions, were extracted. Nineteen studies comprising five randomized controlled trials (RCT), five non-randomized controlled trials (NRCT) and nine observational studies with controls (OWC) were included. Sixty-four percent of prescriber-directed interventions, and all non-prescriber interventions, were effective. Each of the following characteristics corresponded to groups of studies of which a majority were effective: automatic provision of recommendations within the providers' workflow, intervention at the time of decision-making, integration into other systems, and requiring the reason for not following the recommendations. Only two studies measured clinical outcomes: an RCT that showed no significant improvement and an OWC that showed improvement, but did not statistically assess the effect. Most studies that measured surrogate outcomes (e.g. potential DDIs) and other outcomes (e.g. adherence to alerts) showed improvements. IT-based interventions improve surrogate clinical outcomes and adherence to DDI alerts. However, there is lack of robust evidence about their effectiveness on clinical outcomes. It is recommended that researchers consider the identified features of effective interventions in the design of interventions and evaluate the effectiveness on DDI outcomes, particularly clinical outcomes.

Detection of 1p36 deletion by clinical exome-first diagnostic approach.

PubMed

Watanabe, Miki; Hayabuchi, Yasunobu; Ono, Akemi; Naruto, Takuya; Horikawa, Hideaki; Kohmoto, Tomohiro; Masuda, Kiyoshi; Nakagawa, Ryuji; Ito, Hiromichi; Kagami, Shoji; Imoto, Issei

2016-01-01

Although chromosome 1p36 deletion syndrome is considered clinically recognizable based on characteristic features, the clinical manifestations of patients during infancy are often not consistent with those observed later in life. We report a 4-month-old girl who showed multiple congenital anomalies and developmental delay, but no clinical signs of syndromic disease caused by a terminal deletion in 1p36.32-p36.33 that was first identified by targeted-exome sequencing for molecular diagnosis.

Detection of 1p36 deletion by clinical exome-first diagnostic approach

PubMed Central

Watanabe, Miki; Hayabuchi, Yasunobu; Ono, Akemi; Naruto, Takuya; Horikawa, Hideaki; Kohmoto, Tomohiro; Masuda, Kiyoshi; Nakagawa, Ryuji; Ito, Hiromichi; Kagami, Shoji; Imoto, Issei

2016-01-01

Although chromosome 1p36 deletion syndrome is considered clinically recognizable based on characteristic features, the clinical manifestations of patients during infancy are often not consistent with those observed later in life. We report a 4-month-old girl who showed multiple congenital anomalies and developmental delay, but no clinical signs of syndromic disease caused by a terminal deletion in 1p36.32-p36.33 that was first identified by targeted-exome sequencing for molecular diagnosis. PMID:28428889

Virtual patients to explore and develop clinical case summary statement skills amongst Japanese resident physicians: a mixed methods study.

PubMed

Heist, Brian S; Kishida, Naoki; Deshpande, Gautam; Hamaguchi, Sugihiro; Kobayashi, Hiroyuki

2016-02-01

In Western clinical training, formulation of a summary statement (SS) is a core exercise for articulation, evaluation, and improvement of clinical reasoning (CR). In Japanese clinical training, structured guidance in developing CR, including opportunity for SS practice, is uncommon, and the present status of case summarization skills is unclear. We used Virtual Patients (VPs) to explore Japanese junior residents' SS styles and the effectiveness of VPs on improving SS quality. All first-year junior resident physicians at 4 residency programs (n = 54) were assigned randomized sequences of 5 VP modules, rolled out at 6 day intervals. During each module, participants free-texted a case summary and then reviewed a model summary. Thematic analysis was used to identify SS styles and each SS was categorized accordingly. Frequency of SS styles, and SS CR quality determined by 1) an internally developed Key Feature rubric and 2) demonstration of semantic qualification, were compared across modules. Four SS styles were identified: numbered features matched to differential diagnoses, differential diagnoses with supportive comments, feature listing, and narrative summarization. From module #1 to #5, significant increases in the narrative summarization SS style (p = 0.016), SS CR quality score (p = 0.021) and percentage of semantically driven SS (p = 0.003) were observed. Our study of Japanese junior residents identified distinct clinical case summary statement styles, and observed adoption of the narrative summarization style and improvement in the CR quality of summary statements during a series of VP cases.

Using automated texture features to determine the probability for masking of a tumor on mammography, but not ultrasound.

PubMed

Häberle, Lothar; Hack, Carolin C; Heusinger, Katharina; Wagner, Florian; Jud, Sebastian M; Uder, Michael; Beckmann, Matthias W; Schulz-Wendtland, Rüdiger; Wittenberg, Thomas; Fasching, Peter A

2017-08-30

Tumors in radiologically dense breast were overlooked on mammograms more often than tumors in low-density breasts. A fast reproducible and automated method of assessing percentage mammographic density (PMD) would be desirable to support decisions whether ultrasonography should be provided for women in addition to mammography in diagnostic mammography units. PMD assessment has still not been included in clinical routine work, as there are issues of interobserver variability and the procedure is quite time consuming. This study investigated whether fully automatically generated texture features of mammograms can replace time-consuming semi-automatic PMD assessment to predict a patient's risk of having an invasive breast tumor that is visible on ultrasound but masked on mammography (mammography failure). This observational study included 1334 women with invasive breast cancer treated at a hospital-based diagnostic mammography unit. Ultrasound was available for the entire cohort as part of routine diagnosis. Computer-based threshold PMD assessments ("observed PMD") were carried out and 363 texture features were obtained from each mammogram. Several variable selection and regression techniques (univariate selection, lasso, boosting, random forest) were applied to predict PMD from the texture features. The predicted PMD values were each used as new predictor for masking in logistic regression models together with clinical predictors. These four logistic regression models with predicted PMD were compared among themselves and with a logistic regression model with observed PMD. The most accurate masking prediction was determined by cross-validation. About 120 of the 363 texture features were selected for predicting PMD. Density predictions with boosting were the best substitute for observed PMD to predict masking. Overall, the corresponding logistic regression model performed better (cross-validated AUC, 0.747) than one without mammographic density (0.734), but less well than the one with the observed PMD (0.753). However, in patients with an assigned mammography failure risk >10%, covering about half of all masked tumors, the boosting-based model performed at least as accurately as the original PMD model. Automatically generated texture features can replace semi-automatically determined PMD in a prediction model for mammography failure, such that more than 50% of masked tumors could be discovered.

The neuropathology observed in wild-type mice inoculated with human poliovirus mirrors human paralytic poliomyelitis.

PubMed

Ford, Dayton J; Ropka, Stacie L; Collins, George H; Jubelt, Burk

2002-09-01

Human paralytic poliomyelitis results from the destruction of spinal cord anterior horn motor neurons by human poliovirus (PV). CNS disease pathology similar to human poliomyelitis has been observed in experimentally infected chimpanzees, monkeys and wild-type mice. In this study we present a detailed examination of the clinical and histopathological features in the wild-type mouse after intracranial (i.c.) and novel intramuscular (i.m.) injection of poliovirus. Either route of poliovirus administration results in a clinical disease characterized predominately by flaccid paralysis. The observed histopathological features are compared with the histopathology reported for human paralytic poliomyelitis, experimentally infected chimpanzees, monkeys and transgenic mice expressing the human poliovirus receptor (hPVR). The observation of flaccid paralysis and anterior horn motor neuron destruction mirrors what is observed in human paralytic poliomyelitis. Our results suggest that the neuropathology observed in the wild-type mouse model is similar to what has been observed in both the human disease and in other experimental animal models, with the possible exception of the transgenic mouse model. The observed neuropathology of the wild-type mouse model more closely reflects what has been observed in human poliomyelitis, as well as in experimentally infected chimpanzees and monkeys, than does the hPVR transgenic mouse model. The previously reported poliovirus-induced white matter demyelinating disease was not observed.

The anatomy of decision support during inpatient care provider order entry (CPOE): Empirical observations from a decade of CPOE experience at Vanderbilt

PubMed Central

Miller, Randolph A.; Waitman, Lemuel R.; Chen, Sutin; Rosenbloom, S. Trent

2006-01-01

The authors describe a pragmatic approach to the introduction of clinical decision support at the point of care, based on a decade of experience in developing and evolving Vanderbilt’s inpatient “WizOrder” care provider order entry (CPOE) system. The inpatient care setting provides a unique opportunity to interject CPOE-based decision support features that restructure clinical workflows, deliver focused relevant educational materials, and influence how care is delivered to patients. From their empirical observations, the authors have developed a generic model for decision support within inpatient CPOE systems. They believe that the model’s utility extends beyond Vanderbilt, because it is based on characteristics of end-user workflows and on decision support considerations that are common to a variety of inpatient settings and CPOE systems. The specific approach to implementing a given clinical decision support feature within a CPOE system should involve evaluation along three axes: what type of intervention to create (for which the authors describe 4 general categories); when to introduce the intervention into the user’s workflow (for which the authors present 7 categories), and how disruptive, during use of the system, the intervention might be to end-users’ workflows (for which the authors describe 6 categories). Framing decision support in this manner may help both developers and clinical end-users plan future alterations to their systems when needs for new decision support features arise. PMID:16290243

[Clinical features and comorbidities of Asperger syndrome in children].

PubMed

Fu, Xiao-Yan; Xie, Xiao-Tian; Mei, Zhu; Cheng, Wen-Hong

2013-09-01

To investigate and summarize the clinical features and comorbidities of Asperger syndrome (AS) in children and to provide a theoretical basis for improving the understanding and diagnosis of AS. Inquiry of medical history, physical examination, behavioral observation, psychiatric examination, questionnaire survey, and the Wechsler Intelligence Scale were used to summarize and analyse the clinical data of 95 children with AS, including chief complaint, symptoms, perinatal and familial conditions, family genetic history, and common comorbidities. AS was more common in male children, with hyperactivity, inattention, and social withdrawal as frequent chief complaints. The main clinical manifestations included poor communication skills (95%), restricted interest (82%), repetitive and stereotyped patterns of behavior (77%), semantic comprehension deficit (74%), and indiscipline (68%). Verbal IQ was higher than performance IQ in most patients. The comorbidities of AS included attention deficit hyperactivity disorder (ADHD) (39%), emotional disorder (18%), and schizophrenia (2%); emotional disorder was more common in patients aged 13-16 years, while ADHD was more common in patients aged 7-16 years. Among these patients, 61% had fathers with introverted personality, 43% had mothers with introverted personality, and 19% had a family history of mental illness. AS has specific clinical manifestations. It is essential to know more about the clinical features and comorbidities of AS, which is helpful for early identification and diagnosis of AS.

Clinico-biochemical correlation to histological findings in alcoholic liver disease: a single centre study from eastern India.

PubMed

Ray, Sayantan; Khanra, Dibbendhu; Sonthalia, Nikhil; Kundu, Supratip; Biswas, Kaushik; Talukdar, Arunansu; Saha, Manjari; Bera, Himel

2014-10-01

Alcoholism is a health problem not only in developed countries but also in developing countries. Cirrhosis due to alcohol is a common cause of death among individuals abusing alcohol. A better knowledge of the spectrum of alcoholic liver diseases, its clinical, biochemical and histopathological features could result in early detection and prevention of alcoholic liver diseases before it's catastrophic and life threatening effects. A total of 200 patients with alcoholic liver diseases were studied with respect to alcohol consumption, clinical features, biochemical and histopathological changes. The clinical features, biochemical parameters, and histopathology of liver including Ishak's modified histological activity index (HAI) were correlated with the amount and duration of alcohol consumed. Majority of the patients were in the age group of 40-49 years and all the cases were males. Majority consumed alcohol of about 75-90 grams per day for a duration of 10-12 years. Anorexia and jaundice were the most common symptom and clinical finding respectively. Hyperbilirubinemia and hypoalbuminemia were the most common abnormalities observed in liver function tests. Advanced HAI stages with features of cirrhosis were most frequent histo-pathological finding noted in this study. Clinico-biochemical profile was significantly correlated with degree of alcohol ingestion as well as with liver histopathology. The wide prevalence of alcoholic liver disease including cirrhosis among Indian males was noted with significantly lower quantity and duration of alcohol ingestion. The severity of liver damage is directly proportional to the quantity and duration of alcohol consumed. Clinical features and biochemical changes may forecast the liver histopathology among the patients of alcoholic liver disease.

Sacrococcygeal teratoma in a female newborn with clinical features of trisomy 13: a case report from Central Africa.

PubMed

Lubala, Toni Kasole; Mukuku, Olivier; Shongo, Mick Pongombo; Mutombo, Augustin Mulangu; Lubala, Nina; Luboya, Oscar Numbi; Lukusa-Tshilobo, Prosper

2015-01-01

The objective of this report is to describe the first patient presenting clinical features of trisomy 13 in association with a sacrococcygeal teratoma. We present the case of a Congolese female infant born with bilateral cleft lip and palate, hypotelorism, microcephaly, and capillary hemangioma on her face. She presented with a large sacrococcygeal mass (15.0 cm ×12.0 cm ×5.0 cm) with a cystic consistency and a positive transillumination. This observation suggests that overexpression of certain genes on chromosome 13 may lead to tumor formation from remnant cells of Hensen's node.

Imaging of autoimmune encephalitis--Relevance for clinical practice and hippocampal function.

PubMed

Heine, J; Prüss, H; Bartsch, T; Ploner, C J; Paul, F; Finke, C

2015-11-19

The field of autoimmune encephalitides associated with antibodies targeting cell-surface antigens is rapidly expanding and new antibodies are discovered frequently. Typical clinical presentations include cognitive deficits, psychiatric symptoms, movement disorders and seizures and the majority of patients respond well to immunotherapy. Pathophysiological mechanisms and clinical features are increasingly recognized and indicate hippocampal dysfunction in most of these syndromes. Here, we review the neuroimaging characteristics of autoimmune encephalitides, including N-methyl-d-aspartate (NMDA) receptor, leucine-rich glioma inactivated 1 (LGI1), contactin-associated protein-like 2 (CASPR2) encephalitis as well as more recently discovered and less frequent forms such as dipeptidyl-peptidase-like protein 6 (DPPX) or glycine receptor encephalitis. We summarize findings of routine magnetic resonance imaging (MRI) investigations as well as (18)F-fluoro-2-deoxy-d-glucose (FDG)-positron emission tomography (PET) and single photon emission tomography (SPECT) imaging and relate these observations to clinical features and disease outcome. We furthermore review results of advanced imaging analyses such as diffusion tensor imaging, volumetric analyses and resting-state functional MRI. Finally, we discuss contributions of these neuroimaging observations to the understanding of the pathophysiology of autoimmune encephalitides. Copyright © 2015 IBRO. Published by Elsevier Ltd. All rights reserved.

Predicting clinical decline in progressive agrammatic aphasia and apraxia of speech.

PubMed

Whitwell, Jennifer L; Weigand, Stephen D; Duffy, Joseph R; Clark, Heather M; Strand, Edythe A; Machulda, Mary M; Spychalla, Anthony J; Senjem, Matthew L; Jack, Clifford R; Josephs, Keith A

2017-11-28

To determine whether baseline clinical and MRI features predict rate of clinical decline in patients with progressive apraxia of speech (AOS). Thirty-four patients with progressive AOS, with AOS either in isolation or in the presence of agrammatic aphasia, were followed up longitudinally for up to 4 visits, with clinical testing and MRI at each visit. Linear mixed-effects regression models including all visits (n = 94) were used to assess baseline clinical and MRI variables that predict rate of worsening of aphasia, motor speech, parkinsonism, and behavior. Clinical predictors included baseline severity and AOS type. MRI predictors included baseline frontal, premotor, motor, and striatal gray matter volumes. More severe parkinsonism at baseline was associated with faster rate of decline in parkinsonism. Patients with predominant sound distortions (AOS type 1) showed faster rates of decline in aphasia and motor speech, while patients with segmented speech (AOS type 2) showed faster rates of decline in parkinsonism. On MRI, we observed trends for fastest rates of decline in aphasia in patients with relatively small left, but preserved right, Broca area and precentral cortex. Bilateral reductions in lateral premotor cortex were associated with faster rates of decline of behavior. No associations were observed between volumes and decline in motor speech or parkinsonism. Rate of decline of each of the 4 clinical features assessed was associated with different baseline clinical and regional MRI predictors. Our findings could help improve prognostic estimates for these patients. © 2017 American Academy of Neurology.

Somatomedin C deficiency in Asian sisters.

PubMed

McGraw, M E; Price, D A; Hill, D J

1986-12-01

Two sisters of Asian origin showed typical clinical and biochemical features of primary somatomedin C (SM-C) deficiency (Laron dwarfism). Abnormalities of SM-C binding proteins were observed, one sister lacking the high molecular weight (150 Kd) protein.

Fatal bilateral dioctophymatosis.

PubMed

Li, Gang; Liu, Caigang; Li, Fang; Zhou, Maoyi; Liu, Xiangyong; Niu, Yuanjie

2010-12-01

Dioctophyma renale is a parasite that frequently occurs in animals but rarely in humans. The present report describes the clinical observations of a D. renale infection in a 51-yr-old woman. Its clinical signs and diagnostic findings were unspecific until giant worms were observed in the urine and histological findings confirmed it was a D. renale infection. She refused treatment and died of bilateral renal function failure. This is the first confirmed report to follow the natural progression of D. renale infection in a human. Here, we discuss a conservative therapeutic approach and features associated with this parasitic infection.

Eosinophilic leukocytoclastic vasculitis - a spectrum ranging from Wells' syndrome to Churg-Strauss syndrome?

PubMed

Ratzinger, Gudrun; Zankl, Julia; Eisendle, Klaus; Zelger, Bernhard

2014-01-01

Wells' syndrome is defined as an inflammatory disorder with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Eosinophilic leukocytoclastic vasculitis shows eosinophilic infiltrates in combination with vasculitic changes. And Churg Strauss Syndrome comprises all three characteristics - eosinophilic infiltrates, vasculitis and flame figures. To determine whether these three diseases are distinct entities or different manifestations of a similar clinicopathologic process. Histopathological samples and clinical courses of 17 patients with eosinophilic infiltrates, flame figures and clinical features of Wells' syndrome were re-evaluated. Histopathologically, we focused on the presence or absence of vasculitic features. Clinically, we included only patients who were diagnosed with Wells' syndrome at least once in the course of their disease. 4 patients were finally diagnosed with Wells' syndrome, 5 with eosinophilic leukocytoclastic vasculitis and 6 with Churg Strauss syndrome. Further, we had one case of an overlap between Wells' syndrome and eosinophilic vasculitis and one case of Wegener granulomatosis. Vasculitic features were found in the samples of all patients. Histologically, we find vasculitic features in typical presentations of Wells' syndrome. Clinically, we find typical features of Wells' syndrome in patients finally diagnosed with eosinophilic leukocytoclastic vasculitis or Churg Strauss syndrome. Furthermore, we have observed and formerly reported 3 patients with progression from Wells' syndrome to Churg Strauss syndrome. Thus, we assume that eosinophilic leukocytoclastic vasculitis might form a bridge between Wells' syndrome and Churg Strauss syndrome.

[Randomized, controlled clinical trials with observational follow-up investigations for evaluating efficacy of antihyperglycaemic treatment. II. Features of and lessons from the follow-up investigations].

PubMed

Jermendy, György

2018-04-01

Although the outcomes of the follow-up investigation period of the randomized clinical studies for evaluating the efficacy of a treatment or an antidiabetic drug may be confounded or potentially biased by several factors, the results are widely accepted by the diabetes community. In line with the theory of metabolic memory or metabolic legacy, early and intensive antihyperglycaemic treatment should be provided for all diabetic patients as this strategy can result in beneficial effects even in the long run. The recent cardiovascular safety trials with new, innovative antidiabetic drugs differ in several aspects from the former efficacy studies. Ten cardiovascular safety trials were completed so far enabling to define their unique and common features. It can be anticipated that the era of randomized, controlled efficacy studies with observational follow-up investigations came to an end in diabetes research. Nowadays, cardiovascular safety trials are in the focus of clinical research in diabetology and results of several ongoing studies are expected with interest in the near future. Orv Hetil. 2018; 159(16): 615-619.

Symmetric corticobasal degeneration (S-CBD).

PubMed

Hassan, Anhar; Whitwell, Jennifer L; Boeve, Bradley F; Jack, Clifford R; Parisi, Joseph E; Dickson, Dennis W; Josephs, Keith A

2010-03-01

Corticobasal degeneration (CBD) is a neurodegenerative disease characterized pathologically by neuronal loss, gliosis and tau deposition in neocortex, basal ganglia and brainstem. Typical clinical presentation is known as corticobasal syndrome (CBS) and involves the core features of progressive asymmetric rigidity and apraxia, accompanied by other signs of cortical and extrapyramidal dysfunction. Asymmetry is also emphasized on neuroimaging. To describe a series of cases of CBD with symmetric clinical features and to compare clinical and imaging features of these symmetric CBD cases (S-CBD) to typical cases of CBS with CBD pathology. All cases of pathologically confirmed CBD from the Mayo Clinic Rochester database were identified. Clinical records were reviewed and quantitative volumetric analysis of symmetric atrophy on head MRI using atlas based parcellation was performed. Subjects were classified as S-CBD if no differences had been observed between right- and left-sided cortical or extrapyramidal signs or symptoms. S-CBD cases were compared to 10 randomly selected typical CBS cases. Five cases (2 female) met criteria for S-CBD. None had limb dystonia, myoclonus, apraxia or alien limb phenomena. S-CBD cases had significantly less asymmetric atrophy when compared with CBS cases (p=0.009); they were also younger at onset (median 61 versus 66 years, p<0.05) and death (67 versus 73 years, p<0.05). Family history was present in 40% of S-CBD cases. CBD can have a symmetric presentation, clinically and radiologically, in which typical features of CBS, such as limb apraxia, myoclonus, dystonia and alien limb phenomenon, may be absent. Copyright (c) 2009 Elsevier Ltd. All rights reserved.

Open-angle glaucoma in the Petit Basset Griffon Vendeen.

PubMed

Bedford, Peter G C

2017-03-01

To report the prevalence and clinical characteristics of an open-angle glaucoma in Petit Basset Griffon Vendeen (PBGV) dogs in the United Kingdom (UK). At breed society clinics extending over a 6-year period, 366 dogs of varying ages and both sexes were clinically examined for signs of glaucoma using slit-lamp biomicroscopy, indirect and direct ophthalmoscopy, tonometry, and gonioscopy. The prevalence of glaucoma was 10.4% (38 dogs). Clinical signs of the disease presented from 3 years of age onwards, the commonest initial feature being the elevation of intraocular pressure (IOP) in 15 dogs (39.4%). In addition to elevated IOP, another 13 dogs (34.2%) presented with other features of glaucoma, some with lens subluxation and globe enlargement and all with possible or known vision defects. In the remaining 10 dogs (26.3%), phacodonesis or lens subluxation was observed before subsequent elevation of IOP. High prevalence and similarity to the primary open-angle glaucoma (POAG) seen in the Beagle and Elkhound breeds indicate that an open-angle glaucoma is present in the PBGV in the UK and that this disease may be genetically determined in this breed. Although increased IOP is the commonest early diagnostic feature, lens instability prior to an increase in IOP may be part of the clinical picture. © 2016 American College of Veterinary Ophthalmologists.

Radiologic and clinical features of idiopathic granulomatous lobular mastitis mimicking advanced breast cancer.

PubMed

Lee, Jei Hee; Oh, Ki Keun; Kim, Eun-kyung; Kwack, Kyu Sung; Jung, Woo Hee; Lee, Han Kyung

2006-02-28

Idiopathic granulomatous lobular mastitis (IGLM), also known as idiopathic granulomatous mastitis, is a rare chronic inflammatory lesion of the breast that can clinically and radiographically mimic breast carcinoma. The aim of this study was to describe the radiological imaging and clinical features of IGLM in order to better differentiate this disorder from breast cancer. We performed a retrospective analysis of the clinical and radiographic features of 11 women with a total of 12 IGLM lesions. The ages of these women ranged between 29 and 42 years, with a mean age of 34.8 years. Ten patients were examined by both mammography and sonography and one by sonography alone. The sites that were the most frequently involved were the peripheral (6/12), diffuse, (3/12), and subareolar (3/12) regions of the breast. The patient mammograms showed irregular ill-defined masses (7/11), diffuse increased densities (3/11), and one oval obscured mass. In addition, patient sonograms showed irregular tubular lesions (7/12) or lobulated masses with minimal parenchymal distortion (2/12), parenchymal distortion without definite mass lesions (2/12), and one oval mass. Subcutaneous fat obliteration (12/12) and skin thickening (11/12) were also observed in these patients. Contrary to previous reports, skin changes and subareolar involvement were not rare occurrences in IGLM. In conclusion, the sonographic features of IGLM show irregular or tubular hypoechoic masses with minimal parenchymal distortion. Both clinical information and the description of radiographic features of IGLM may aid in the differentiation between IGLM and breast cancer, however histological confirmation is still required for the proper diagnosis and treatment of the disorder.

Radiologic and Clinical Features of Idiopathic Granulomatous Lobular Mastitis Mimicking Advanced Breast Cancer

PubMed Central

Lee, Jei Hee; Kim, Eun-kyung; Kwack, Kyu Sung; Jung, Woo Hee; Lee, Han Kyung

2006-01-01

Idiopathic granulomatous lobular mastitis (IGLM), also known as idiopathic granulomatous mastitis, is a rare chronic inflammatory lesion of the breast that can clinically and radiographically mimic breast carcinoma. The aim of this study was to describe the radiological imaging and clinical features of IGLM in order to better differentiate this disorder from breast cancer. We performed a retrospective analysis of the clinical and radiographic features of 11 women with a total of 12 IGLM lesions. The ages of these women ranged between 29 and 42 years, with a mean age of 34.8 years. Ten patients were examined by both mammography and sonography and one by sonography alone. The sites that were the most frequently involved were the peripheral (6/12), diffuse, (3/12), and subareolar (3/12) regions of the breast. The patient mammograms showed irregular ill-defined masses (7/11), diffuse increased densities (3/11), and one oval obscured mass. In addition, patient sonograms showed irregular tubular lesions (7/12) or lobulated masses with minimal parenchymal distortion (2/12), parenchymal distortion without definite mass lesions (2/12), and one oval mass. Subcutaneous fat obliteration (12/12) and skin thickening (11/12) were also observed in these patients. Contrary to previous reports, skin changes and subareolar involvement were not rare occurrences in IGLM. In conclusion, the sonographic features of IGLM show irregular or tubular hypoechoic masses with minimal parenchymal distortion. Both clinical information and the description of radiographic features of IGLM may aid in the differentiation between IGLM and breast cancer, however histological confirmation is still required for the proper diagnosis and treatment of the disorder. PMID:16502488

Clinical Correlations With Lewy Body Pathology in LRRK2-Related Parkinson Disease

PubMed Central

Kalia, Lorraine V.; Lang, Anthony E.; Hazrati, Lili-Naz; Fujioka, Shinsuke; Wszolek, Zbigniew K.; Dickson, Dennis W.; Ross, Owen A.; Van Deerlin, Vivianna M.; Trojanowski, John Q.; Hurtig, Howard I.; Alcalay, Roy N.; Marder, Karen S.; Clark, Lorraine N.; Gaig, Carles; Tolosa, Eduardo; Ruiz-Martínez, Javier; Marti-Masso, Jose F.; Ferrer, Isidre; de Munain, Adolfo López; Goldman, Samuel M.; Schüle, Birgitt; Langston, J. William; Aasly, Jan O.; Giordana, Maria T.; Bonifati, Vincenzo; Puschmann, Andreas; Canesi, Margherita; Pezzoli, Gianni; De Paula, Andre Maues; Hasegawa, Kazuko; Duyckaerts, Charles; Brice, Alexis; Stoessl, A. Jon; Marras, Connie

2015-01-01

IMPORTANCE Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of genetic Parkinson disease (PD) known to date. The clinical features of manifesting LRRK2 mutation carriers are generally indistinguishable from those of patients with sporadic PD. However, some PD cases associated with LRRK2 mutations lack Lewy bodies (LBs), a neuropathological hallmark of PD. We investigated whether the presence or absence of LBs correlates with different clinical features in LRRK2-related PD. OBSERVATIONS We describe genetic, clinical, and neuropathological findings of 37 cases of LRRK2-related PD including 33 published and 4 unpublished cases through October 2013. Among the different mutations, the LRRK2 p.G2019S mutation was most frequently associated with LB pathology. Nonmotor features of cognitive impairment/dementia, anxiety, and orthostatic hypotension were correlated with the presence of LBs. In contrast, a primarily motor phenotype was associated with a lack of LBs. CONCLUSIONS AND RELEVANCE To our knowledge, this is the first report of clinicopathological correlations in a series of LRRK2-related PD cases. Findings from this selected group of patients with PD demonstrated that parkinsonian motor features can occur in the absence of LBs. However, LB pathology in LRRK2-related PD may be a marker for a broader parkinsonian symptom complex including cognitive impairment. PMID:25401511

Somatomedin C deficiency in Asian sisters.

PubMed Central

McGraw, M E; Price, D A; Hill, D J

1986-01-01

Two sisters of Asian origin showed typical clinical and biochemical features of primary somatomedin C (SM-C) deficiency (Laron dwarfism). Abnormalities of SM-C binding proteins were observed, one sister lacking the high molecular weight (150 Kd) protein. Images Figure PMID:2434036

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

PubMed

Nicita, Francesco; Garone, Giacomo; Spalice, Alberto; Savasta, Salvatore; Striano, Pasquale; Pantaleoni, Chiara; Spartà, Maria Valentina; Kluger, Gerhard; Capovilla, Giuseppe; Pruna, Dario; Freri, Elena; D'Arrigo, Stefano; Verrotti, Alberto

2016-01-01

Seizures are rarely reported in Williams-Beuren syndrome (WBS)--a contiguous-gene-deletion disorder caused by a 7q11.23 heterozygous deletion of 1.5-1.8 Mb--and no previous study evaluated electro-clinical features of epilepsy in this syndrome. Furthermore, it has been hypothesized that atypical deletion (e.g., larger than 1.8 Mb) may be responsible for a more pronounced neurological phenotypes, especially including seizures. Our objectives are to describe the electro-clinical features in WBS and to correlate the epileptic phenotype with deletion of the 7q11.23 critical region. We evaluate the electro-clinical features in one case of distal 7q11.23 deletion syndrome and in eight epileptic WBS (eWBS) patients. Additionally, we compare the deletion size-and deleted genes-of four epileptic WBS (eWBS) with that of four non-epileptic WBS (neWBS) patients. Infantile spasms, focal (e.g., motor and dyscognitive with autonomic features) and generalized (e.g., tonic-clonic, tonic, clonic, myoclonic) seizures were encountered. Drug-resistance was observed in one patient. Neuroimaging discovered one case of focal cortical dysplasia, one case of fronto-temporal cortical atrophy and one case of periventricular nodular heterotopia. Comparison of deletion size between eWBS and neWBS patients did not reveal candidate genes potentially underlying epilepsy. This is the largest series describing electro-clinical features of epilepsy in WBS. In WBS, epilepsy should be considered both in case of typical and atypical deletions, which do not involve HIP1, YWHAG or MAGI2. © 2015 Wiley Periodicals, Inc.

Comparison of patellofemoral outcomes after TKA using two prostheses with different patellofemoral design features.

PubMed

Bae, Dae Kyung; Baek, Jong Hun; Yoon, Kyung Tack; Son, Hyuck Sung; Song, Sang Jun

2017-12-01

The purpose of the present study was to compare the clinical and radiographic results after TKA using two prostheses with different sagittal patellofemoral design features, including outcomes related to compatibility of the patellofemoral joint. The clinical and radiographic results of 81 patients (100 knees) who underwent TKA using the specific prosthesis (group A) were compared with those in a control group who underwent TKA using the other prosthesis (group B). The presence of anterior knee joint pain, patellar crepitation, and patellar clunk syndrome was also checked. The function score and maximum flexion angle at the last follow-up were slightly better in group A than those in group B (92.0 ± 2.3 vs. 90.6 ± 4.2) (133.6° ± 8.4° vs. 129.6° ± 11.4°). Anterior knee pain was observed in 6 knees and patellar crepitation in four knees in group A. In group B, these symptoms were observed in 22 knees and 18 knees, respectively. There was no patellar clunk syndrome in either group. The alignment was corrected with satisfactory positioning of components. The patellar height remained unchanged after TKA in the two groups. The differences between preoperative and postoperative patellar tilt angle and patellar translation were small. When comparing the clinical and radiographic results after TKA using two prostheses with different sagittal patellofemoral design features, TKA using the specific prosthesis provided satisfactory results with less clinical symptoms related to the patellofemoral kinematics with TKA using the other prosthesis. III.

Clinicopathological study of 81 cases of localized and systemic scleroderma.

PubMed

Succaria, F; Kurban, M; Kibbi, A-G; Abbas, O

2013-02-01

Scleroderma is a connective tissue disease that includes localized and systemic forms. Our recent encounter with a morphea case exhibiting prominent perineural inflammation microscopically prompted us to assess the features of all patients diagnosed with morphea/scleroderma at our institution. To describe the clinicopathological features of all patients diagnosed with morphea/scleroderma at American University of Beirut Medical Center (AUB-MC) between 1999 and 2010, and compare our findings with those published in the literature. A total of 81 cases (63 women and 18 men) were identified, of which 73 were localized (morphea) and eight were systemic scleroderma. Clinically, plaque type morphea was the most common variant both in adults and children, and seven (9%) cases of morphea were associated with lichen sclerosis et atrophicus (LSA). Histopathologically, perineural inflammation was observed in 49% of cases, and may serve, in addition to other features including lichen sclerosis-like changes (observed in exclusively nine cases of morphea), more diffuse dermal and less subcutaneous sclerosis, and intense inflammation, as clues favouring diagnosis of morphea over systemic sclerosis. The features of morphea/scleroderma patients in this study are generally comparable to those published in the literature, with few differences. Clinically, plaque type morphea was the most common variant both in adults and children and LSA was a frequent association. Histopathologically, perineural inflammation was commonly observed and may serve in addition to lichen sclerosis-like changes and intense inflammation as clues favouring diagnosis of morphea over systemic sclerosis. © 2012 The Authors. Journal of the European Academy of Dermatology and Venereology © 2012 European Academy of Dermatology and Venereology.

Use of continuous electronic fetal monitoring in a preterm fetus: clinical dilemmas and recommendations for practice.

PubMed

Afors, Karolina; Chandraharan, Edwin

2011-01-01

The aim of intrapartum continuous electronic fetal monitoring using a cardiotocograph (CTG) is to identify a fetus exposed to intrapartum hypoxic insults so that timely and appropriate action could be instituted to improve perinatal outcome. Features observed on a CTG trace reflect the functioning of somatic and autonomic nervous systems and the fetal response to hypoxic or mechanical insults during labour. Although, National Guidelines on electronic fetal monitoring exist for term fetuses, there is paucity of recommendations based on scientific evidence for monitoring preterm fetuses during labour. Lack of evidence-based recommendations may pose a clinical dilemma as preterm births account for nearly 8% (1 in 13) live births in England and Wales. 93% of these preterm births occur after 28 weeks, 6% between 22-27 weeks, and 1% before 22 weeks. Physiological control of fetal heart rate and the resultant features observed on the CTG trace differs in the preterm fetus as compared to a fetus at term making interpretation difficult. This review describes the features of normal fetal heart rate patterns at different gestations and the physiological responses of a preterm fetus compared to a fetus at term. We have proposed an algorithm "ACUTE" to aid management.

Features of Brazilian spotted fever in two different endemic areas in Brazil.

PubMed

Angerami, Rodrigo N; Câmara, Milena; Pacola, Márcia R; Rezende, Regina C M; Duarte, Raquel M R; Nascimento, Elvira M M; Colombo, Silvia; Santos, Fabiana C P; Leite, Ruth M; Katz, Gizelda; Silva, Luiz J

2012-12-01

Brazilian spotted fever (BSF) caused by Rickettsia rickettsii is the most important rickettsiosis and the only reportable tick-borne disease in Brazil. In Brazil, the hard tick Amblyomma cajennense is the most important BSF vector; however, in São Paulo State, A. aureolatum was also recognized as a vector species in remaining Atlantic forest areas near the metropolitan area of São Paulo city. We analyzed clinical and epidemiological features of BSF cases from two distinct areas where A. cajennense (Area 1) and A. aureolatum (Area 2) are the incriminated vectors. The clinical features demonstrate the same severity pattern of BSF in both endemic areas. Differences in seasonality, patient characteristics (median age and gender), and epidemiological risk factors (animals host contact and vegetation characteristics) were observed and possibly could be attributed to the characteristics of each vector and their typical biological cycle (hosts and environment). Copyright © 2012 Elsevier GmbH. All rights reserved.

Widespread porokeratotic adnexal ostial nevus: clinical features and proposal of a new name unifying porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus.

PubMed

Goddard, Deborah S; Rogers, Maureen; Frieden, Ilona J; Krol, Alfons L; White, Clifton R; Jayaraman, Anu G; Robinson-Bostom, Leslie; Bruckner, Anna L; Ruben, Beth S

2009-12-01

Porokeratotic eccrine ostial and dermal duct nevus and a similar condition, porokeratotic eccrine and hair follicle nevus, are rare disorders of keratinization with eccrine and hair follicle involvement. We describe the clinical features in 5 patients, all of whom had widespread skin involvement following the lines of Blaschko. Two patients presented with erosions in the newborn period as the initial manifestation of their disease; one had an associated structural anomaly, unilateral breast hypoplasia; and one adult had malignant transformation in the nevus with development of multifocal squamous cell carcinomas. Three patients had histologic involvement of both acrosyringia and acrotrichia. Based on the observation of overlapping histologic features, we propose the name "porokeratotic adnexal ostial nevus" to incorporate the previously described entities porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus.

The Pathology of Reactive Lymphadenopathies: A Discussion of Common Reactive Patterns and Their Malignant Mimics.

PubMed

Slack, Graham W

2016-09-01

-Distinguishing between a reactive and a neoplastic lymphoid proliferation is a clinically significant task frequently performed by the surgical pathologist in routine practice. -To highlight common situations in lymph node pathology where reactive changes and lymphoma may be misdiagnosed. -Data sources are peer-reviewed journal articles, textbooks, and clinical experience. -This review aims to refresh and enhance the surgical pathologist's awareness of the shared and distinguishing features of select reactive and neoplastic lymphoproliferations, which in turn will allow the surgical pathologist to make more accurate diagnoses and avoid the pitfalls of misdiagnosis. This will be done by describing a selection of commonly encountered reactive histologic changes observed in lymph nodes, present the lymphomas with which they share overlapping features, outline the features that distinguish them, and describe an approach to making an accurate diagnosis and avoiding a misdiagnosis in each scenario.

Computational phenotype discovery using unsupervised feature learning over noisy, sparse, and irregular clinical data.

PubMed

Lasko, Thomas A; Denny, Joshua C; Levy, Mia A

2013-01-01

Inferring precise phenotypic patterns from population-scale clinical data is a core computational task in the development of precision, personalized medicine. The traditional approach uses supervised learning, in which an expert designates which patterns to look for (by specifying the learning task and the class labels), and where to look for them (by specifying the input variables). While appropriate for individual tasks, this approach scales poorly and misses the patterns that we don't think to look for. Unsupervised feature learning overcomes these limitations by identifying patterns (or features) that collectively form a compact and expressive representation of the source data, with no need for expert input or labeled examples. Its rising popularity is driven by new deep learning methods, which have produced high-profile successes on difficult standardized problems of object recognition in images. Here we introduce its use for phenotype discovery in clinical data. This use is challenging because the largest source of clinical data - Electronic Medical Records - typically contains noisy, sparse, and irregularly timed observations, rendering them poor substrates for deep learning methods. Our approach couples dirty clinical data to deep learning architecture via longitudinal probability densities inferred using Gaussian process regression. From episodic, longitudinal sequences of serum uric acid measurements in 4368 individuals we produced continuous phenotypic features that suggest multiple population subtypes, and that accurately distinguished (0.97 AUC) the uric-acid signatures of gout vs. acute leukemia despite not being optimized for the task. The unsupervised features were as accurate as gold-standard features engineered by an expert with complete knowledge of the domain, the classification task, and the class labels. Our findings demonstrate the potential for achieving computational phenotype discovery at population scale. We expect such data-driven phenotypes to expose unknown disease variants and subtypes and to provide rich targets for genetic association studies.

Computational Phenotype Discovery Using Unsupervised Feature Learning over Noisy, Sparse, and Irregular Clinical Data

PubMed Central

Lasko, Thomas A.; Denny, Joshua C.; Levy, Mia A.

2013-01-01

Inferring precise phenotypic patterns from population-scale clinical data is a core computational task in the development of precision, personalized medicine. The traditional approach uses supervised learning, in which an expert designates which patterns to look for (by specifying the learning task and the class labels), and where to look for them (by specifying the input variables). While appropriate for individual tasks, this approach scales poorly and misses the patterns that we don’t think to look for. Unsupervised feature learning overcomes these limitations by identifying patterns (or features) that collectively form a compact and expressive representation of the source data, with no need for expert input or labeled examples. Its rising popularity is driven by new deep learning methods, which have produced high-profile successes on difficult standardized problems of object recognition in images. Here we introduce its use for phenotype discovery in clinical data. This use is challenging because the largest source of clinical data – Electronic Medical Records – typically contains noisy, sparse, and irregularly timed observations, rendering them poor substrates for deep learning methods. Our approach couples dirty clinical data to deep learning architecture via longitudinal probability densities inferred using Gaussian process regression. From episodic, longitudinal sequences of serum uric acid measurements in 4368 individuals we produced continuous phenotypic features that suggest multiple population subtypes, and that accurately distinguished (0.97 AUC) the uric-acid signatures of gout vs. acute leukemia despite not being optimized for the task. The unsupervised features were as accurate as gold-standard features engineered by an expert with complete knowledge of the domain, the classification task, and the class labels. Our findings demonstrate the potential for achieving computational phenotype discovery at population scale. We expect such data-driven phenotypes to expose unknown disease variants and subtypes and to provide rich targets for genetic association studies. PMID:23826094

Usability Assessment of Secure Messaging for Clinical Document Sharing between Health Care Providers and Patients.

PubMed

Jahn, Michelle A; Porter, Brian W; Patel, Himalaya; Zillich, Alan J; Simon, Steven R; Russ, Alissa L

2018-04-01

 Web-based patient portals feature secure messaging systems that enable health care providers and patients to communicate information. However, little is known about the usability of these systems for clinical document sharing.  This article evaluates the usability of a secure messaging system for providers and patients in terms of its ability to support sharing of electronic clinical documents.  We conducted usability testing with providers and patients in a human-computer interaction laboratory at a Midwestern U.S. hospital. Providers sent a medication list document to a fictitious patient via secure messaging. Separately, patients retrieved the clinical document from a secure message and returned it to a fictitious provider. We collected use errors, task completion, task time, and satisfaction.  Twenty-nine individuals participated: 19 providers (6 physicians, 6 registered nurses, and 7 pharmacists) and 10 patients. Among providers, 11 (58%) attached and sent the clinical document via secure messaging without requiring assistance, in a median (range) of 4.5 (1.8-12.7) minutes. No patients completed tasks without moderator assistance. Patients accessed the secure messaging system within 3.6 (1.2-15.0) minutes; retrieved the clinical document within 0.8 (0.5-5.7) minutes; and sent the attached clinical document in 6.3 (1.5-18.1) minutes. Although median satisfaction ratings were high, with 5.8 for providers and 6.0 for patients (scale, 0-7), we identified 36 different use errors. Physicians and pharmacists requested additional features to support care coordination via health information technology, while nurses requested features to support efficiency for their tasks.  This study examined the usability of clinical document sharing, a key feature of many secure messaging systems. Our results highlight similarities and differences between provider and patient end-user groups, which can inform secure messaging design to improve learnability and efficiency. The observations suggest recommendations for improving the technical aspects of secure messaging for clinical document sharing. Schattauer GmbH Stuttgart.

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.

PubMed

Earl, Rachel K; Turner, Tychele N; Mefford, Heather C; Hudac, Caitlin M; Gerdts, Jennifer; Eichler, Evan E; Bernier, Raphael A

2017-01-01

DYRK1A is a gene recurrently disrupted in 0.1-0.5% of the ASD population. A growing number of case reports with DYRK1A haploinsufficiency exhibit common phenotypic features including microcephaly, intellectual disability, speech delay, and facial dysmorphisms. Phenotypic information from previously published DYRK1A cases ( n  = 51) and participants in an ongoing study at the University of Washington (UW, n  = 10) were compiled. Frequencies of recurrent phenotypic features in this population were compared to features observed in a large sample with idiopathic ASD from the Simons Simplex Collection ( n  = 1981). UW DYRK1A cases were further characterized quantitatively and compared to a randomly subsampled set of idiopathic ASD cases matched on age and gender ( n  = 10) and to cases with an ASD-associated disruptive mutation to CHD8 ( n  = 12). Contribution of familial genetic background to clinical heterogeneity was assessed by comparing head circumference, IQ, and ASD-related symptoms of UW DYRK1A cases to their unaffected parents. DYRK1A haploinsufficiency results in a common phenotypic profile including intellectual disability, speech and motor difficulties, microcephaly, feeding difficulties, and vision abnormalities. Eighty-nine percent of DYRK1A cases ascertained for ASD presented with a constellation of five or more of these symptoms. When compared quantitatively, DYRK1A cases presented with significantly lower IQ and adaptive functioning compared to idiopathic cases and significantly smaller head size compared to both idiopathic and CHD8 cases. Phenotypic variability in parental head circumference, IQ, and ASD-related symptoms corresponded to observed variability in affected child phenotype. Results confirm a core clinical phenotype for DYRK1A disruptions, with a combination of features that is distinct from idiopathic ASD. Cases with DYRK1A mutations are also distinguishable from disruptive mutations to CHD8 by head size. Measurable, quantitative characterization of DYRK1A haploinsufficiency illuminates clinical variability, which may be, in part, due to familial genetic background.

Ethnic disparity in mortality after diagnosis of colorectal cancer among inner city minority New Yorkers.

PubMed

Kanna, Balavenkatesh; Narang, Tarun K; Atwal, Tegpal; Paul, Doru; Azeez, Sulaiman

2009-12-01

Ethnic disparities in colorectal cancer (CRC) mortality are observed in the United States. The authors studied this among minority New Yorkers with CRC. In a study of CRC patients in a New York City teaching hospital, 5-year data on demographics and clinical features were reviewed. Adjusted cancer-related deaths and early deaths (within 6 months of diagnosis) were compared among African Americans (AAs) and Hispanics. Descriptive analyses, odds ratios (ORs), and 95% confidence intervals (CIs) are reported. A P value of <.05 was considered significant. Among 202 CRC subjects, we noted the following: Hispanics, 148 (73%); AAs, 54 (27%); women, 107 (53%); mean age, 64.5 years; and screening colonoscopy, 44 (22%). CRC was diagnosed by colonoscopy in 157 (78%) and by surgery in 45 (22%) cases. One hundred twenty-two (60%) had stage 0-II CRC, and 69 (34%) had proximal colonic lesions. Fifty-four of 202 patients died during the study period (median, 27 months), of whom 24 (11.9%) were early deaths. Significantly higher odds of death (OR, 3.98; 95% CI, 2.03-7.81), especially early death (OR, 5.94; 95% CI, 2.42-14.6) was observed among AAs. There was no difference in demographic and other clinical features, or treatment between Hispanics and AAs (P = nonsignificant). The first to compare inner city minority subjects with CRC, the authors observed increased odds of death in AAs, despite similar clinical features and living environment. Tumor behavior or host response among AAs could explain this difference. Aggressive therapeutic and early detection strategies need to be tested in a large randomized study setting to substantiate our study findings. (c) 2009 American Cancer Society.

Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype

PubMed Central

Ferkol, Thomas W.; Rosenfeld, Margaret; Lee, Hye-Seung; Dell, Sharon D.; Sagel, Scott D.; Milla, Carlos; Zariwala, Maimoona A.; Pittman, Jessica E.; Shapiro, Adam J.; Carson, Johnny L.; Krischer, Jeffrey P.; Hazucha, Milan J.; Cooper, Matthew L.; Knowles, Michael R.; Leigh, Margaret W.

2015-01-01

Rationale: The relationship between clinical phenotype of childhood primary ciliary dyskinesia (PCD) and ultrastructural defects and genotype is poorly defined. Objectives: To delineate clinical features of childhood PCD and their associations with ultrastructural defects and genotype. Methods: A total of 118 participants younger than 19 years old with PCD were evaluated prospectively at six centers in North America using standardized procedures for diagnostic testing, spirometry, chest computed tomography, respiratory cultures, and clinical phenotyping. Measurements and Main Results: Clinical features included neonatal respiratory distress (82%), chronic cough (99%), and chronic nasal congestion (97%). There were no differences in clinical features or respiratory pathogens in subjects with outer dynein arm (ODA) defects (ODA alone; n = 54) and ODA plus inner dynein arm (IDA) defects (ODA + IDA; n = 18) versus subjects with IDA and central apparatus defects with microtubular disorganization (IDA/CA/MTD; n = 40). Median FEV1 was worse in the IDA/CA/MTD group (72% predicted) versus the combined ODA groups (92% predicted; P = 0.003). Median body mass index was lower in the IDA/CA/MTD group (46th percentile) versus the ODA groups (70th percentile; P = 0.003). For all 118 subjects, median number of lobes with bronchiectasis was three and alveolar consolidation was two. However, the 5- to 11-year-old IDA/CA/MTD group had more lobes of bronchiectasis (median, 5; P = 0.0008) and consolidation (median, 3; P = 0.0001) compared with the ODA groups (median, 3 and 2, respectively). Similar findings were observed when limited to participants with biallelic mutations. Conclusions: Lung disease was heterogeneous across all ultrastructural and genotype groups, but worse in those with IDA/CA/MTD ultrastructural defects, most of whom had biallelic mutations in CCDC39 or CCDC40. PMID:25493340

Dengue fever outbreak: a clinical management experience.

PubMed

Ahmed, Shahid; Ali, Nadir; Ashraf, Shahzad; Ilyas, Mohammad; Tariq, Waheed-Uz-Zaman; Chotani, Rashid A

2008-01-01

To determine the frequency of dengue as a cause of fever and compare the clinical and haematological characteristics of Dengue-probable and Dengue-proven cases. An observational study. The Combined Military Hospital, Malir Cantt., Karachi, from August 2005 to December 2006. All patients with age above 14 years, who were either hospitalized or treated in medical outdoor clinic due to acute febrile illness, were evaluated for clinical features of Dengue Fever (DF), Dengue haemorrhagic fever (DHF) and Dengue Shock Syndrome (DSS). Patients showing typical clinical features and haematological findings suggestive of Dengue fever (As per WHO criteria) were evaluated in detail for comparison of probable and confirmed cases of Dengue fever. All other cases of acute febrile illness, not showing clinical features or haematological abnormalities of Dengue fever, were excluded. The clinical and laboratory features were recorded on SPSS 11.0 programme and graded where required, for descriptive and statistical analysis. Out of 5200 patients with febrile illness, 107(2%) presented with typical features of DF, 40/107(37%) were Dengue-proven while 67/107(63%) were Dengue-probable. Out of Dengue-proven cases, 38 were of DF and 2 were of DHF. Day 1 temperature ranged from 99-1050C (mean 1010C). Chills and rigors were noticed in 86 (80%), myalgia in 67%, headache in 54%, pharyngitis in 35%, rash in 28%, and bleeding manifestations in 2% cases. Hepatomegaly in 1(0.5%), lymphadenopathy in 1(0.5%) and splenomegaly in 12 (11.2%) cases. Leucopoenia (count<4x109 /L) was noted in 73%, platelet count<150 x109 /L in 84% and ALT>40 U/L in 57% cases. Frequency of clinically suspected dengue virus infection was 107 (2%), while confirmed dengue fever cases were 40 (0.8%) out of 5200 fever cases. Fever with chills and rigors, body aches, headache, myalgia, rash, haemorrhagic manifestations, platelet count, total leukocyte count, and ALT, are parameters to screen the cases of suspected dengue virus infection; the diagnosis cannot be confirmed unless supported by molecular studies or dengue specific IgM .

Differences in clinical characteristics and frequency of accompanying migraine features in episodic and chronic cluster headache.

PubMed

Gaul, C; Christmann, N; Schröder, D; Weber, R; Shanib, H; Diener, H C; Holle, D

2012-05-01

Data on clinical differences between episodic (eCH) and chronic cluster headache (cCH) and accompanying migraine features are limited. History and clinical features of 209 consecutive cluster headache patients (144 eCH, 65 cCH; male:female ratio 3.4 : 1) were obtained in a tertiary headache centre by face-to-face interviews. Relationship between occurrence of accompanying symptoms, pain intensity, comorbid migraine, and circannual and circadian rhythmicity was analysed. 99.5% of patients reported a minimum of one ipsilateral cranial autonomic symptom (CAS); 80% showed at least three CAS. A seasonal rhythmicity was observed in both eCH and cCH. A comorbid headache disorder occurred in 25%. No significant difference was detected between patients with comorbid migraine and without regarding occurrence of phonophobia, photophobia or nausea during cluster attacks. Patients with comorbid migraine reported allodynia significantly (p = 0.022) more often during cluster attacks than patients without comorbid migraine. Occurrence of CAS and attack frequency, as well as periodic patterns of attacks, are relatively uniform in eCH and cCH. Multiple CAS are not related to pain intensity. Allodynia during cluster attacks is a frequent symptom. The unexpectedly high rate of accompanying migrainous features during cluster attacks cannot be explained by comorbid migraine.

Dermoscopic findings in Laugier-Hunziker syndrome.

PubMed

Gencoglan, Gulsum; Gerceker-Turk, Bengu; Kilinc-Karaarslan, Isil; Akalin, Taner; Ozdemir, Fezal

2007-05-01

Laugier-Hunziker syndrome (LHS) is a rare, acquired mucocutaneous hyperpigmentation often associated with longitudinal melanonychia. The clinical behavior of mucocutaneous pigmented lesions ranges from benign to highly malignant. Therefore, in most cases, the clinical diagnosis should be confirmed by further diagnostic methods. Dermoscopy is a noninvasive technique that has been used to make more accurate diagnoses of pigmented skin lesions. Nevertheless, to our knowledge, the dermoscopic features of the pigmented lesions in LHS have not been described previously. Herein, we report a case of LHS together with its dermoscopic features. The clinical examination revealed macular hyperpigmentation on the oral and genital mucosa, conjunctiva, and palmoplantar region together with longitudinal melanonychia. Dermoscopic examination of mucosal lesions on the patient's lips and vulva revealed a parallel pattern. Longitudinal homogeneous pigmentation was observed on the toenails. The pigmented macules on the palms and the sole showed a parallel furrow pattern. A skin biopsy sample taken from the labial lesion was compatible with a diagnosis of mucosal melanosis. By means of this case report, the dermoscopic features of the pigmented lesions in LHS are described for the first time, which facilitates diagnosis with a noninvasive technique. Future reports highlighting the dermoscopic features of this syndrome may simplify the diagnosis of LHS, which is thought to be underdiagnosed.

Perceived Pain Extent is Not Associated With Widespread Pressure Pain Sensitivity, Clinical Features, Related Disability, Anxiety, or Depression in Women With Episodic Migraine.

PubMed

Fernández-de-Las-Peñas, Cesar; Falla, Deborah; Palacios-Ceña, María; Fuensalida-Novo, Stella; Arias-Buría, Jose L; Schneebeli, Alessandro; Arend-Nielsen, Lars; Barbero, Marco

2018-03-01

People with migraine present with varying pain extent and an expanded distribution of perceived pain may reflect central sensitization. The relationship between pain extent and clinical features, psychological outcomes, related disability, and pressure pain sensitivity in migraine has been poorly investigated. Our aim was to investigate whether the perceived pain extent, assessed from pain drawings, relates to measures of pressure pain sensitivity, clinical, psychological outcomes, and related disability in women with episodic migraine. A total of 72 women with episodic migraine completed pain drawings, which were subsequently digitized allowing pain extent to be calculated utilising novel software. Pressure pain thresholds were assessed bilaterally over the temporalis muscle (trigeminal area), the cervical spine (extratrigeminal area), and tibialis anterior muscle (distant pain-free area). Clinical features of migraine, migraine-related disability (migraine disability assessment questionnaire [MIDAS]), and anxiety and depression (Hospital Anxiety-Depression Scale [HADS]) were also assessed. Spearman ρ correlation coefficients were computed to reveal correlations between pain extent and the remaining outcomes. No significant associations were observed between pain extent and pressure pain thresholds in trigeminal, extratrigeminal or distant pain-free areas, migraine pain features, or psychological variables including anxiety or depression, and migraine-related disability. Pain extent within the trigeminocervical area was not associated with any of the measured clinical outcomes and not related to the degree of pressure pain sensitization in women with episodic migraine. Further research is needed to determine if the presence of expanded pain areas outside of the trigeminal area can play a relevant role in the sensitization processes in migraine.

Differentiating cognitive impairment due to corticobasal degeneration and Alzheimer disease.

PubMed

Day, Gregory S; Lim, Tae Sung; Hassenstab, Jason; Goate, Alison M; Grant, Elizabeth A; Roe, Catherine M; Cairns, Nigel J; Morris, John C

2017-03-28

To identify clinical features that reliably differentiate individuals with cognitive impairment due to corticobasal degeneration (CBD) and Alzheimer disease (AD). Clinical features were compared between individuals with autopsy-proven CBD (n = 17) and AD (n = 16). All individuals presented with prominent cognitive complaints and were evaluated annually with semistructured interviews, detailed neurologic examinations, and neuropsychological testing. Substantial overlap was observed between individuals with dementia due to CBD and AD concerning presenting complaints, median (range) duration of symptoms before assessment (CBD = 3.0 [0-5.0] years, AD = 2.5 [0-8.0] years; p = 0.96), and median (range) baseline dementia severity (Clinical Dementia Rating Sum of Boxes: CBD = 3.5 [0-12.0], AD = 4.25 [0.5-9.0], p = 0.49). Subsequent emergence of asymmetric motor/sensory signs, hyperreflexia, gait abnormalities, parkinsonism, falls, urinary incontinence, and extraocular movement abnormalities identified individuals with CBD, with ≥3 discriminating features detected in 80% of individuals within 3.1 years (95% confidence interval 2.9-3.3) of the initial assessment. Individuals with CBD exhibited accelerated worsening of illness severity and declines in episodic memory, executive functioning, and letter fluency. Semiquantitative pathologic assessment revealed prominent tau pathology within the frontal and parietal lobes of CBD cases. Comorbid AD neuropathologic change was present in 59% (10 of 17) of CBD cases but did not associate with the clinical phenotype, rate of dementia progression, or dementia duration. CBD may mimic AD dementia early in its disease course. Interval screening for discriminating clinical features may improve antemortem diagnosis in individuals with CBD and prominent cognitive symptoms. © 2017 American Academy of Neurology.

Hyperhidrosis in naïve purpose-bred beagle dogs (Canis familiaris).

PubMed

Carrier, Catherine A; Seeman, Jennifer L; Hoffmann, Guenther

2011-05-01

This case study details the unusual clinical findings in a unique paw-pad disorder that recently emerged among 2 male and 1 female naïve purpose-bred beagle dogs (Canis familiaris) newly received into our facility. During acclimation period physical examinations, the affected dogs demonstrated constantly moist, soft paw pads on all 4 feet. No information was available regarding the epidemiology and pathogenesis of this pad condition in beagle dogs. Here, we report the results of physical examination, clinical chemistry analysis, hematology, histopathology, detailed observations, and novel testing techniques performed during the acclimation period. Histopathology of several sections of affected footpads was compared with that of an age-matched dog with clinically normal paw pads. We describe the morphologic features of a distinctive cutaneous canine footpad condition and discuss the possible differential diagnoses. The histologic and clinical features were most consistent with those of hyperhidrosis; to our knowledge, this report is the first description of hyperhidrosis as a distinct condition in purpose-bred beagle dogs.

Hyperhidrosis in Naïve Purpose-Bred Beagle Dogs (Canis familiaris)

PubMed Central

Carrier, Catherine A; Seeman, Jennifer L; Hoffmann, Guenther

2011-01-01

This case study details the unusual clinical findings in a unique paw-pad disorder that recently emerged among 2 male and 1 female naïve purpose-bred beagle dogs (Canis familiaris) newly received into our facility. During acclimation period physical examinations, the affected dogs demonstrated constantly moist, soft paw pads on all 4 feet. No information was available regarding the epidemiology and pathogenesis of this pad condition in beagle dogs. Here, we report the results of physical examination, clinical chemistry analysis, hematology, histopathology, detailed observations, and novel testing techniques performed during the acclimation period. Histopathology of several sections of affected footpads was compared with that of an age-matched dog with clinically normal paw pads. We describe the morphologic features of a distinctive cutaneous canine footpad condition and discuss the possible differential diagnoses. The histologic and clinical features were most consistent with those of hyperhidrosis; to our knowledge, this report is the first description of hyperhidrosis as a distinct condition in purpose-bred beagle dogs. PMID:21640037

Hand assessment in older adults with musculoskeletal hand problems: a reliability study.

PubMed

Myers, Helen L; Thomas, Elaine; Hay, Elaine M; Dziedzic, Krysia S

2011-01-07

Musculoskeletal hand pain is common in the general population. This study aims to investigate the inter- and intra-observer reliability of two trained observers conducting a simple clinical interview and physical examination for hand problems in older adults. The reliability of applying the American College of Rheumatology (ACR) criteria for hand osteoarthritis to community-dwelling older adults will also be investigated. Fifty-five participants aged 50 years and over with a current self-reported hand problem and registered with one general practice were recruited from a previous health questionnaire study. Participants underwent a standardised, structured clinical interview and physical examination by two independent trained observers and again by one of these observers a month later. Agreement beyond chance was summarised using Kappa statistics and intra-class correlation coefficients. Median values for inter- and intra-observer reliability for clinical interview questions were found to be "substantial" and "moderate" respectively [median agreement beyond chance (Kappa) was 0.75 (range: -0.03, 0.93) for inter-observer ratings and 0.57 (range: -0.02, 1.00) for intra-observer ratings]. Inter- and intra-observer reliability for physical examination items was variable, with good reliability observed for some items, such as grip and pinch strength, and poor reliability observed for others, notably assessment of altered sensation, pain on resisted movement and judgements based on observation and palpation of individual features at single joints, such as bony enlargement, nodes and swelling. Moderate agreement was observed both between and within observers when applying the ACR criteria for hand osteoarthritis. Standardised, structured clinical interview is reliable for taking a history in community-dwelling older adults with self reported hand problems. Agreement between and within observers for physical examination items is variable. Low Kappa values may have resulted, in part, from a low prevalence of clinical signs and symptoms in the study participants. The decision to use clinical interview and hand assessment variables in clinical practice or further research in primary care should include consideration of clinical applicability and training alongside reliability. Further investigation is required to determine the relationship between these clinical questions and assessments and the clinical course of hand pain and hand problems in community-dwelling older adults.

Performance evaluation of automated segmentation software on optical coherence tomography volume data

PubMed Central

Tian, Jing; Varga, Boglarka; Tatrai, Erika; Fanni, Palya; Somfai, Gabor Mark; Smiddy, William E.

2016-01-01

Over the past two decades a significant number of OCT segmentation approaches have been proposed in the literature. Each methodology has been conceived for and/or evaluated using specific datasets that do not reflect the complexities of the majority of widely available retinal features observed in clinical settings. In addition, there does not exist an appropriate OCT dataset with ground truth that reflects the realities of everyday retinal features observed in clinical settings. While the need for unbiased performance evaluation of automated segmentation algorithms is obvious, the validation process of segmentation algorithms have been usually performed by comparing with manual labelings from each study and there has been a lack of common ground truth. Therefore, a performance comparison of different algorithms using the same ground truth has never been performed. This paper reviews research-oriented tools for automated segmentation of the retinal tissue on OCT images. It also evaluates and compares the performance of these software tools with a common ground truth. PMID:27159849

Magnetic resonance imaging features of Great Danes with and without clinical signs of cervical spondylomyelopathy

PubMed Central

Martin-Vaquero, Paula; da Costa, Ronaldo C.

2014-01-01

Objective To characterize and compare the MRI morphological features of the cervical vertebral column of Great Danes with and without clinical signs of cervical spondylomyelopathy (CSM). Design Prospective cohort study. Animals 30 Great Danes (15 clinically normal and 15 CSM-affected). Procedures All dogs underwent MRI of the cervical vertebral column (C2–3 through T1–2). Features evaluated included sites of subarachnoid space compression, spinal cord compression, or both; degree, cause, and direction of compression; MRI signal changes of the spinal cord; articular process (facet) joint characteristics; internal vertebral venous plexus visibility; and presence of extradural synovial cysts as well as presence and degree of intervertebral disk degeneration and foraminal stenosis. Results Clinically normal and CSM-affected dogs had 11 and 61 compressive sites, respectively, detected with MRI. All CSM-affected dogs had ≥ 1 site of spinal cord compression. No signal changes were observed in spinal cords of normal dogs, whereas 14 sites of hyperintensity were found in 9 CSM-affected dogs. Foraminal stenosis was present in 11 clinically normal and all CSM-affected dogs. The number of stenotic foraminal sites was significantly greater in the CSM-affected group, and severe stenosis appeared to be more common in this group than in the clinically normal group. Significant differences were identified between clinically normal and CSM-affected dogs with regard to amount of synovial fluid evident, regularity of articular surfaces, degree of articular process joint proliferation, and internal vertebral venous plexus visibility. Conclusions and Clinical Relevance Abnormalities were detected with MRI in several clinically normal Great Danes. Severe spinal cord compression, number of stenotic foraminal sites, and signal changes within the spinal cord distinguished CSM-affected from clinically normal Great Danes. PMID:25075822

Clinical outcomes research in gynecologic oncology.

PubMed

Melamed, Alexander; Rauh-Hain, J Alejandro; Schorge, John O

2017-09-01

Clinical outcomes research seeks to understand the real-world manifestations of clinical care. In particular, outcomes research seeks to reveal the effects of pharmaceutical, procedural, and structural aspects of healthcare on patient outcomes, including mortality, disease control, toxicity, cost, and quality of life. Although outcomes research can utilize interventional study designs, insightful use of observational data is a defining feature of this field. Many questions in gynecologic oncology are not amenable to investigation in randomized clinical trials due to cost, feasibility, or ethical concerns. When a randomized trial is not practical or has not yet been conducted, well-designed observational studies have the potential to provide the best available evidence about the effects of clinical care. Such studies may use surveys, medical records, disease registries, and a variety of administrative data sources. Even when a randomized trial has been conducted, observational studies can be used to estimate the real-world effect of an intervention, which may differ from the results obtained in the controlled setting of a clinical trial. This article reviews the goals, methodologies, data sources, and limitations of clinical outcomes research, with a focus on gynecologic oncology. Copyright © 2017. Published by Elsevier Inc.

Expanding the clinical and genetic spectra of NKX6-2-related disorder.

PubMed

Baldi, C; Bertoli-Avella, A M; Al-Sannaa, N; Alfadhel, M; Al-Thihli, K; Alameer, S; Elmonairy, A A; Al Shamsi, A M; Abdelrahman, H A; Al-Gazali, L; Shawli, A; Al-Hakami, F; Yavuz, H; Kandaswamy, K K; Rolfs, A; Brandau, O; Bauer, P

2018-05-01

Hypomyelinating leukodystrophies (HLDs) affect the white matter of the central nervous system and manifest as neurological disorders. They are genetically heterogeneous. Very recently, biallelic variants in NKX6-2 have been suggested to cause a novel form of autosomal recessive HLD. Using whole-exome or whole-genome sequencing, we identified the previously reported c.196delC and c.487C>G variants in NKX6-2 in 3 and 2 unrelated index cases, respectively; the novel c.608G>A variant was identified in a sixth patient. All variants were homozygous in affected family members only. Our patients share a primary diagnosis of psychomotor delay, and they show spastic quadriparesis, nystagmus and hypotonia. Seizures and dysmorphic features (observed in 2 families each) represent an addition to the phenotype, while developmental regression (observed in 3 families) appears to be a notable and previously underestimated clinical feature. Our findings extend the clinical and mutational spectra associated with this novel form of HLD. Comparative analysis of our 10 patients and the 15 reported previously did, however, not reveal clear evidence for a genotype-phenotype correlation. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Hypocholesterolemia in Patients with an Amebic Liver Abscess

PubMed Central

Flores, María S.; Obregón-Cárdenas, Adriana; Tamez, Eva; Rodríguez, Elba; Arévalo, Katiushka; Quintero, Isela; Tijerina, Rolando; Bosques, Francisco; Galán, Luis

2014-01-01

Background/Aims Many parasites induce changes in the lipid profiles of the host. Cholesterol increases the virulence of Entamoeba histolytica in animal models and in vitro culture. This study aimed to determine, in patients with an amebic liver abscess, the correlation between cholesterol and other features, such as the size and number of abscesses, standard hematological and serum chemistry profiles, liver tests, and duration of hospital stay. Methods A total of 108 patients with an amebic liver abscess and 140 clinically healthy volunteers were investigated. Cholesterol and triglycerides were measured in the sera. The data from medical observations and laboratory tests were obtained from the clinical records. Results A total of 93% of patients with an amebic liver abscess showed hypocholesterolemia not related to any of the studied parameters. Liver function tests correlated with the size of the abscess. The most severe cases of amebic liver disease or death were found in patients whose cholesterol levels continued to decrease despite receiving antiamebic treatment and hospital care. Conclusions Our results show that the hypocholesterolemia observed in patients with an amebic liver abscess is not related to any of the clinical and laboratory features analyzed. This is the first study relating hypocholesterolemia to severity of hepatic amebiasis. PMID:25071907

Epidemiological and Clinical Features of Severe Fever with Thrombocytopenia Syndrome in Japan, 2013–2014

PubMed Central

Shimada, Tomoe; Matsui, Tamano; Shimojima, Masayuki; Saijo, Masayuki; Oishi, Kazunori

2016-01-01

Although severe fever with thrombocytopenia syndrome (SFTS) was first reported from Japan in 2013, the precise clinical features and the risk factors for SFTS have not been fully investigated in Japan. Ninety-six cases of severe fever with thrombocytopenia syndrome (SFTS) were notified through the national surveillance system between April 2013 and September 2014 in Japan. All cases were from western Japan, and 82 cases (85%) had an onset between April and August. A retrospective observational study of the notified SFTS cases was conducted to identify the clinical features and laboratory findings during the same period. Of 96 notified cases, 49 (51%) were included in this study. Most case-patients were of advanced age (median age 78 years) and were retired or unemployed, or farmers. These case-patients had a history of outdoor activity within 2 weeks before the onset of illness. The median serum C-reactive protein concentration was slightly elevated at admission. Fungal infections such as invasive aspergilosis were found in 10% of these case-patients. Hemophagocytosis was observed in 15 of the 18 case-patients (83%) whose bone marrow samples were available. Fifteen cases were fatal, giving a case-fatality proportion of 31%. The proportion of neurological abnormalities and serum concentrations of lactate dehydrogenase and aspartate aminotransferase were significantly higher in the fatal cases than in the nonfatal cases during hospitalization. Appearance of neurological abnormality may be useful for predicting the prognosis in SFTS patients. PMID:27776187

Epidemiological and Clinical Features of Severe Fever with Thrombocytopenia Syndrome in Japan, 2013-2014.

PubMed

Kato, Hirofumi; Yamagishi, Takuya; Shimada, Tomoe; Matsui, Tamano; Shimojima, Masayuki; Saijo, Masayuki; Oishi, Kazunori

2016-01-01

Although severe fever with thrombocytopenia syndrome (SFTS) was first reported from Japan in 2013, the precise clinical features and the risk factors for SFTS have not been fully investigated in Japan. Ninety-six cases of severe fever with thrombocytopenia syndrome (SFTS) were notified through the national surveillance system between April 2013 and September 2014 in Japan. All cases were from western Japan, and 82 cases (85%) had an onset between April and August. A retrospective observational study of the notified SFTS cases was conducted to identify the clinical features and laboratory findings during the same period. Of 96 notified cases, 49 (51%) were included in this study. Most case-patients were of advanced age (median age 78 years) and were retired or unemployed, or farmers. These case-patients had a history of outdoor activity within 2 weeks before the onset of illness. The median serum C-reactive protein concentration was slightly elevated at admission. Fungal infections such as invasive aspergilosis were found in 10% of these case-patients. Hemophagocytosis was observed in 15 of the 18 case-patients (83%) whose bone marrow samples were available. Fifteen cases were fatal, giving a case-fatality proportion of 31%. The proportion of neurological abnormalities and serum concentrations of lactate dehydrogenase and aspartate aminotransferase were significantly higher in the fatal cases than in the nonfatal cases during hospitalization. Appearance of neurological abnormality may be useful for predicting the prognosis in SFTS patients.

Association of myasthenia gravis and Behçet's disease: A case report.

PubMed

Kisabay, Aysin; Sari, Ummu Serpil; Boyaci, Recep; Batum, Melike; Yilmaz, Hikmet; Selcuki, Deniz

2016-01-01

Myasthenia gravis is a disease of neuromuscular junction due to auto-immune destruction of the acetylcholine receptors. Behçet's disease, on the other hand, is a multisystemic vascular-inflammatory disease. Both conditions are not common in the general population although their association has not been reported in the literature. We wanted to present our patient who developed clinical course of myasthenia gravis following discontinuation of medications due to complications of corticosteroid for Behçet's disease. It was observed that clinical findings of myasthenia gravis recovered following restarting steroid treatment and he did not experience attacks of both conditions. Although Myasthenia gravis and Behçet's disease are distinct entities clinically as well as in terms of pathogenesis, they share common physiopathological features and their treatment is based on their common features. Copyright © 2016 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

Ebola Virus Disease, Democratic Republic of the Congo, 2014.

PubMed

Nanclares, Carolina; Kapetshi, Jimmy; Lionetto, Fanshen; de la Rosa, Olimpia; Tamfun, Jean-Jacques Muyembe; Alia, Miriam; Kobinger, Gary; Bernasconi, Andrea

2016-09-01

During July-November 2014, the Democratic Republic of the Congo underwent its seventh Ebola virus disease (EVD) outbreak. The etiologic agent was Zaire Ebola virus; 66 cases were reported (overall case-fatality rate 74.2%). Through a retrospective observational study of confirmed EVD in 25 patients admitted to either of 2 Ebola treatment centers, we described clinical features and investigated correlates associated with death. Clinical features were mainly generic. At admission, 76% of patients had >1 gastrointestinal symptom and 28% >1 hemorrhagic symptom. The case-fatality rate in this group was 48% and was higher for female patients (67%). Cox regression analysis correlated death with initial low cycle threshold, indicating high viral load. Cycle threshold was a robust predictor of death, as were fever, hiccups, diarrhea, dyspnea, dehydration, disorientation, hematemesis, bloody feces during hospitalization, and anorexia in recent medical history. Differences from other outbreaks could suggest guidance for optimizing clinical management and disease control.

Classifying Clinical Trial Eligibility Criteria to Facilitate Phased Cohort Identification Using Clinical Data Repositories.

PubMed

Wang, Amy Y; Lancaster, William J; Wyatt, Matthew C; Rasmussen, Luke V; Fort, Daniel G; Cimino, James J

2017-01-01

A major challenge in using electronic health record repositories for research is the difficulty matching subject eligibility criteria to query capabilities of the repositories. We propose categories for study criteria corresponding to the effort needed for querying those criteria: "easy" (supporting automated queries), mixed (initial automated querying with manual review), "hard" (fully manual record review), and "impossible" or "point of enrollment" (not typically in health repositories). We obtained a sample of 292 criteria from 20 studies from ClinicalTrials.gov. Six independent reviewers, three each from two academic research institutions, rated criteria according to our four types. We observed high interrater reliability both within and between institutions. The analysis demonstrated typical features of criteria that map with varying levels of difficulty to repositories. We propose using these features to improve enrollment workflow through more standardized study criteria, self-service repository queries, and analyst-mediated retrievals.

Classifying Clinical Trial Eligibility Criteria to Facilitate Phased Cohort Identification Using Clinical Data Repositories

PubMed Central

Wang, Amy Y.; Lancaster, William J.; Wyatt, Matthew C.; Rasmussen, Luke V.; Fort, Daniel G.; Cimino, James J.

2017-01-01

A major challenge in using electronic health record repositories for research is the difficulty matching subject eligibility criteria to query capabilities of the repositories. We propose categories for study criteria corresponding to the effort needed for querying those criteria: “easy” (supporting automated queries), mixed (initial automated querying with manual review), “hard” (fully manual record review), and “impossible” or “point of enrollment” (not typically in health repositories). We obtained a sample of 292 criteria from 20 studies from ClinicalTrials.gov. Six independent reviewers, three each from two academic research institutions, rated criteria according to our four types. We observed high interrater reliability both within and between institutions. The analysis demonstrated typical features of criteria that map with varying levels of difficulty to repositories. We propose using these features to improve enrollment workflow through more standardized study criteria, self-service repository queries, and analyst-mediated retrievals. PMID:29854246

[Clinical observation of teacher tablets in treatment of pharyngitis].

PubMed

Qin, Dong-yun; Wu, Tie

2008-07-01

To evaluate the efficacy of teacher tablets in the treatment of pharyngitis. One hundred and thirty six patients with acute pharyngitis or chronic pharyngitis in attack were randamly divided into two groups: treated group (n=68), the patients were given teacher tablets for 7 days, control group (n=68), the patients were given Qinlian capsule for 7 days. Before and after the experimental medicine-taking test, general condition, clinical symptoms and features of examinations on laryngo-pharynx, throat swab bacterial culture were measured. After 7 day medicine-taking experiment, teacher tablets can improve clinical symptoms (at an efficacy rate of more than 60%) and features (at an efficacy rate of more than 80%) of laryngopharynx, in treated group, the inhibition ratios of alpha streptococcus, neisseria and staphylococcus aureus are more than 50%. There are no significant difference between treated group and control groups in those detected index. Teacher tablets is effective for pharyagitis.

Clinical and radiologic features of unilateral and bilateral schizencephaly in polish pediatric patients.

PubMed

Kopyta, Ilona; Jamroz, Ewa; Kluczewska, Ewa; Sarecka-Hujar, Beata

2014-04-01

Schizencephaly is a rare and severe congenital brain defect. Its etiology is not unequivocal and its clinical course differs with every case. The aim of the study was to analyze correlations between clinical and radiologic features of schizencephaly in Polish patients. The study group consisted of 25 children. Epileptic seizures were observed in 60% of cases and in 32% epilepsy was drug resistant. Generalized hypotonia was found in 24%, spastic diparesis in 48%, and spastic hemiparesis in 28% of cases. Seizures were more frequent in the bilateral than unilateral schizencephaly subgroup (72% vs 29%, P = .045). There was a correlation between the presence of the bilateral type II schizencephaly and the occurrence of seizures (P = .002, r = 0.578). There is a correlation between the type of schizencephaly and the presence of seizures in Polish pediatric patients. In most of the patients, schizencephaly leads to developmental retardation and epileptic seizures.

Neuron-specific enolase levels in drug-naïve young adults with major depressive disorder.

PubMed

Wiener, Carolina David; Molina, Mariane Lopez; Passos, Miguel; Moreira, Fernanda Pedrotti; Bittencourt, Guilherme; de Mattos Souza, Luciano Dias; da Silva, Ricardo Azevedo; Jansen, Karen; Oses, Jean Pierre

2016-05-04

The aim of this study is to assess neuron-specific enolase (NSE) levels and clinical features in subjects with major depressive disorder (MDD). This is a cross-sectional study with drug-naïve young adults with MDD (aged 18-29 years). Serum levels of NSE were assessed using the electrochemiluminescence method. MDD diagnosis, suicidal ideation, and time of disease were assessed using the Structured Clinical Interview for DSM-IV (SCID). The Hamilton Depression Rating Scale (HDRS) and Hamilton Anxiety Rating Scale (HARS) were used to assess depressive and anxiety symptoms. No relationship was observed between NSE levels and severity of depressive and anxiety symptoms, time of disease, and suicidal ideation. These results suggest that NSE serum levels were not associated with clinical features of MDD among drug-naïve young adults. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Subacute Sclerosing Panencephalitis in a Toddler: Changing Epidemiological Trends

PubMed Central

Aulakh, Roosy; Tiwari, Abhimanyu

2013-01-01

Subacute sclerosing panencephalitis (SSPE) is a devastating “slow virus” brain disease resulting from persistent measles virus infection of neurons. The age at presentation is usually 8 to 11 years with onset usually occurring 2–10 years after measles infection. We report a 2-and-half-year-old boy who presented with progressively increasing myoclonic jerks and subtle cognitive decline. He was diagnosed as a case of SSPE based on clinical features, typical electroencephalographic finding, and elevated cerebrospinal fluid/serum measles antibody titers. He had measles 4 months prior to onset of symptoms. This case along with review of recently published reports suggests progressively decreasing latency period between measles infection and onset of symptoms observed in cases with SSPE. Clinical implication would mean investigating for SSPE even in infants or toddlers with compatible clinical features and recent history of measles infection. PMID:24416610

Crossed asymmetry in Russell-Silver syndrome.

PubMed Central

Qazi, Q H; Kassner, E G; Ganapathy, C

1977-01-01

Since the initial report by Silver et al (1953), more than 50 examples of the Russell-Silver syndrome have been reported. Unilateral congenital asymmetry of the extremities has been considered one of the major features of this disorder (Silver, 1964). We recently observed a child with otherwise typical features of the Russell-Silver syndrome who had enlargement of the right hand and of the left lower extremity. We know of no other recorded example of crossed asymmetry in this clinical entity. Images PMID:839508

Association between melanocytic neoplasms and seborrheic keratosis: more than a coincidental collision?

PubMed Central

DeFazio, Jennifer; Zalaudek, Iris; Busam, Klaus J.; Cota, Carlo; Marghoob, Ashfaq

2012-01-01

Clinical observations and an expanding knowledge of cell-to-cell communication have led us to speculate that the finding of a melanocytic nevus in conjunction with a seborrheic keratosis is more than a coincidental collision of two lesions. Here we present five cases demonstrating dermoscopic features of both melanocytic lesions and seborrheic keratoses with corresponding histology. Four cases demonstrate dermoscopic features of a melanocytic nevus and seborrheic keratosis, and the final case a melanoma arising in association with a seborrheic keratosis. PMID:23785597

Are ultrasound features at the first metatarsophalangeal joint associated with clinically-assessed pain and function? A study of people with gout, asymptomatic hyperuricaemia and normouricaemia.

PubMed

Stewart, Sarah; Dalbeth, Nicola; Vandal, Alain C; Allen, Bruce; Miranda, Rhian; Rome, Keith

2017-01-01

The first metatatarsophalangeal joint (1st MTP joint) is a common location for sonographic evidence of urate deposition in people with gout and asymptomatic hyperuricaemia. However, it is unclear whether these are related to clinically-assessed pain and function. This study aimed to determine the association between ultrasound features and clinical characteristics of the 1st MTP joint in people with gout, asymptomatic hyperuricaemia and age- and sex-matched normouricaemic individuals. Twenty-three people with gout, 29 with asymptomatic hyperuricaemia and 34 with normouricaemia participated in a cross-sectional study. No participant had clinical evidence of acute inflammatory arthritis at the time of assessment. Four sonographic features at the 1st MTP joint were analysed: double contour sign, tophus, bone erosion and synovitis. Clinical characteristics included in the analysis were 1st MTP joint pain, overall foot pain and disability, 1st MTP joint temperature, 1st MTP joint range of motion and gait velocity. Statistical analyses adjusted for the diagnostic group of the participant. After accounting for the diagnostic group, double contour sign was associated with higher foot pain and disability scores ( P  < 0.001). Ultrasound tophus was associated with higher foot pain and disability scores ( P  < 0.001), increased temperature ( P  = 0.005), and reduced walking velocity ( P  = 0.001). No associations were observed between ultrasound synovitis or erosion and the clinical characteristics. Ultrasound features of urate crystal deposition, rather than soft tissue inflammation or bone erosion, are associated with clinical measures of foot-related functional impairment and disability even in the absence of clinical evidence of current acute inflammatory arthritis. This association persisted regardless of the diagnosis of the participant as having gout or asymptomatic hyperuricaemia.

Biologic Therapy and Asthma.

PubMed

Viswanathan, Ravi K; Busse, William W

2018-02-01

Although airway inflammation is an intrinsic and key feature of asthma, this response varies in its intensity and translation to clinical characteristics and responsiveness to treatment. The observations that clinical heterogeneity is an important aspect of asthma and a feature that likely dictates and determines responses to treatment in severe asthma, patient responsiveness to medication is incomplete, and risks for exacerbation are increased. The development of biologics, which target selected and specific components of inflammation, has been a promising advance to achieve asthma control in patients with severe disease. This article reviews the current biologics available and under development and how their use has affected asthma and which subpopulations appear to benefit the greatest. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

POLG1-related levodopa-responsive parkinsonism.

PubMed

Miguel, Rita; Gago, Miguel Fernandes; Martins, João; Barros, Pedro; Vale, José; Rosas, Maria José

2014-11-01

Parkinsonian features have been described in patients with POLG1 mutations. Notwithstanding, the clinical expression has been revealed heterogeneous and the response to dopaminergic treatment has been document in few cases. We aim to describe the longitudinal clinical features and the treatment response of three unrelated patients with neurodegenerative parkinsonism, preceded by PEO and SANDO syndromes, who harbor POLG1 mutations, including two novel mutations. It was documented a sustained response to levodopa, at 3 and 8 years of follow-up of parkinsonian syndrome, and reduced striatal dopamine uptake. We review the genotypic and phenotypic spectrum of POLG1-related parkinsonism. Our observations stimulate the debate around the role of mitochondrial DNA defects in the pathogenesis of neurodegenerative parkinsonism. Copyright © 2014 Elsevier B.V. All rights reserved.

Pedunculated and telangiectatic merkel cell carcinoma: an unusual clinical presentation.

PubMed

Errichetti, Enzo; Piccirillo, Angelo; Ricciuti, Federico; Ricciuti, Francesco

2013-05-01

Merkel cell carcinoma (MCC) is an uncommon aggressive neuroendocrine tumor of the skin that classically presents on chronic sun-damaged skin as a skin-colored, red or violaceous, firm and nontender papule or nodule with a smooth and shiny surface. Ulcerations can be observed very seldom and only in very advanced lesions. We present a unique case of a MCC presenting with two unusual clinical features: The Telangiectatic surface and the pedunculated aspect.

Clinical features of ceroid lipofuscinosis in border collie dogs.

PubMed

Studdert, V P; Mitten, R W

1991-04-01

Ceroid lipofuscinosis was diagnosed by histopathological and histochemical findings in 17 related border collie dogs and by clinical signs in 6 of their litter mates. Behavioural changes, first hyperactivity and later aggression, commenced at 16 to 23 (mean 19.5) months of age. Motor abnormalities and blindness were observed at the mean ages of 20.8 and 21.2 months, respectively. All dogs were euthanased 1 to 6 months after the onset of clinical signs, mean age 23.1 months. Pedigree data supported an autosomal recessive mode of inheritance.

Male Inmate Profiles and Their Biological Correlates

PubMed Central

Horn, Mathilde; Potvin, Stephane; Allaire, Jean-François; Côté, Gilles; Gobbi, Gabriella; Benkirane, Karim; Vachon, Jeanne; Dumais, Alexandre

2014-01-01

Objective: Borderline and antisocial personality disorders (PDs) share common clinical features (impulsivity, aggressiveness, substance use disorders [SUDs], and suicidal behaviours) that are greatly overrepresented in prison populations. These disorders have been associated biologically with testosterone and cortisol levels. However, the associations are ambiguous and the subject of controversy, perhaps because these heterogeneous disorders have been addressed as unitary constructs. A consideration of profiles of people, rather than of exclusive diagnoses, might yield clearer relationships. Methods: In our study, multiple correspondence analysis and cluster analysis were employed to identify subgroups among 545 newly convicted inmates. The groups were then compared in terms of clinical features and biological markers, including levels of cortisol, testosterone, estradiol, progesterone, and sulfoconjugated dehydroepiandrosterone (DHEA-S). Results: Four clusters with differing psychiatric, criminal, and biological profiles emerged. Clinically, one group had intermediate scores for each of the tested clinical features. Another group comprised people with little comorbidity. Two others displayed severe impulsivity, PD, and SUD. Biologically, cortisol levels were lowest in the last 2 groups and highest in the group with less comorbidity. In keeping with previous findings reported in the literature, testosterone was higher in a younger population with severe psychiatric symptoms. However, some apparently comparable behavioural outcomes were found to be related to distinct biological profiles. No differences were observed for estradiol, progesterone, or DHEA-S levels. Conclusions: The results not only confirm the importance of biological markers in the study of personality features but also demonstrate the need to consider the role of comorbidities and steroid coregulation. PMID:25161069

Clinical characteristics of patients with chronic obstructive pulmonary disease overlapped with bronchial asthma.

PubMed

Liang, Jing-Bo; Liu, Li-Jin; Fang, Qiu-Hong

2017-05-01

The clinical characteristics of patients with chronic obstructive pulmonary disease overlapped with bronchial asthma (COPD-BA) have not been discussed thoroughly. To reveal the clinical features of patients with COPD-BA, to evaluate the risk factors of COPD-BA, and to provide suggestions for COPD individualized therapy. A retrospective observational study was performed. A total of 182 patients with COPD (90 with COPD-BA and 92 with pure COPD) were recruited in the study. Information on the following items was collected: demographics, clinical manifestations, complications, laboratory findings, other histories, and inpatient treatments during exacerbation. A total of 182 patients were diagnosed with COPD, with 90 (49.45%) being classified as having COPD-BA. Patients with COPD-BA were more likely to be female (P = .004) and experienced more severe respiratory exacerbations (P = .04) despite being younger (P = .008). Those patients at onset of recurrent cough and sputum production were younger (P = .001). Significantly, a positive asthmatic family history (P = .03) was observed. Patients with COPD-BA usually had higher level of total serum IgE (although no differences were observed), had higher positive rates of the serum specific IgE (P = .004), and were more like to have an allergic history (P = .003). Allergic factor was the risk factor of COPD-BA (odds ratio, 4.477). During hospitalization, patients with COPD-BA tended to be treated with systemic corticosteroids (P = .008). Patients with COPD-BA were characterized by persistent airflow limitation with unique clinical features. Allergic factor was associated with the presence of asthmatic characteristics in patients with COPD. When hospitalized for exacerbation, the individualized therapy for COPD-BA might include the use of corticosteroids systemically. Copyright © 2017 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles

PubMed Central

Pretto, Dalyir I.; Mendoza-Morales, Guadalupe; Lo, Joyce; Cao, Ru; Hadd, Andrew; Latham, Gary J.; Durbin-Johnson, Blythe; Hagerman, Randi; Tassone, Flora

2014-01-01

Background Greater than 200 CGG repeats in the 5′UTR of the FMR1 gene leads to epigenetic silencing and lack of the FMR1 protein, causing Fragile X Syndrome. Individuals carriers of a premutation (PM) allele with 55–200 CGG repeats are typically unmethylated and can present with clinical features defined as FMR1 associated conditions. Methods Blood samples from 17 male PM carriers were assessed clinically and molecularly by Southern Blot, Western Blot, PCR and QRT-PCR. Blood and brain tissue from additional 18 PM males were also similarly examined. Continuous outcomes were modeled using linear regression and binary outcomes were modeled using logistic regression. Results Methylated alleles were detected in different fractions of blood cells in all PM cases (n= 17). CGG repeat numbers correlated with percent of methylation and mRNA levels and, especially in the upper PM range, with greater number of clinical involvements. Inter/intra- tissue somatic instability and differences in percent methylation were observed between blood and fibroblasts (n=4) and also observed between blood and different brain regions in three of the 18 premutation cases examined. CGG repeat lengths in lymphocytes remained unchanged over a period of time ranging from 2–6 years, three cases for whom multiple samples were available. Conclusion In addition to CGG size instability, individuals with a PM expanded alleles can exhibit methylation and display more clinical features likely due to RNA toxicity and/or FMR1 silencing. The observed association between CGG repeat length and percent of methylation with the severity of the clinical phenotypes underscores the potential value of methylation in affected PM to further understand penetrance, inform diagnosis and to expand treatment options. PMID:24591415

Clinical Features and Complications of the HLA-B27-associated Acute Anterior Uveitis: A Metanalysis.

PubMed

D'Ambrosio, Enzo Maria; La Cava, Maurizio; Tortorella, Paolo; Gharbiya, Magda; Campanella, Michelangelo; Iannetti, Ludovico

2017-01-01

In this article, we report a literature-based metanalysis we have conducted to outline the clinical features of the HLA-B27 Acute Anterior Uveitis (AAU). The examined material was based on observational studies in which participants were affected by Acute Anterior Uveitis and divided into HLA B27+ and HLA B27-. We performed a search on articles with the words "HLA B27 uveitis" dated before May 2014. Among these, 29 articles were selected for a second review. After a further evaluation, 22 articles were analyzed. The clinical characteristics studied in the metanalysis were: (1) systemic disease; (2) sex distribution; (3) laterality; (4) visual acuity; (5) hypopion; (6) anterior chamber's fibrin; (7) elevated intraocular pressure (IOP) during inflammation; (8) glaucoma; (9) posterior synechiae; (10) cataract; (11) cystoid macular edema; (12) papillitis. We have calculated a relative risk (RR) for each outcome measured. The results obtained remark some of the peculiar features linked to the HLA B27 Acute Anterior Uveitis, such as strong association with ankylosing spondylitis (RR = 6.80) and systemic diseases (RR = 9.9), male prevalence (RR = 1.2), unilateral (RR = 1.1) or alternating bilateral (RR = 2.2) involvement, hypopion (RR = 5.5), fibrinous reaction and even papillitis (R = 7.7). Simultaneous bilateral (RR = 0.3) AAU is more frequent in HLA-B27 negative form. We report higher risk of elevated IOP and glaucoma (RR = 0.6) in B27- Acute Anterior Uveitis. No significant difference between HLA B 27 positive and negative AAU was observed according to final visual acuity and complications such as posterior synechiae, cataract, and maculare edema. We trust that this will inform on the clinical evaluation and therapeutic decision in addressing a still ill-defined ophthalmologic condition.

Scrub typhus: Clinical spectrum and outcome.

PubMed

Venkategowda, Pradeep M; Rao, S Manimala; Mutkule, Dnyaneshwar P; Rao, Mallela V; Taggu, Alai N

2015-04-01

Scrub typhus is one of the differential diagnoses for fever with thrombocytopenia. ARDS associated with Scrub typhus has high morbidity and mortality. To evaluate clinical features, lab values, and outcome in patients with scrub typhus and comparison in patients with or without ARDS. A prospective observational study was conducted on 109 patients with febrile illness and thrombocytopenia during a period of 12 months. All 109 patients were tested with both Immune-chromatography test and Weil felix test. Patients having either Immune-chromatography test/Weil felix test positive have been included and considered as scrub typhus positive whereas negative for both Immune-chromatography and Weil felix test were excluded. Clinical features, lab parameters, and outcome were evaluated in all patients with scrub typhus. Statistical analysis used in this study was T-test. Among 58 patients who were included (After exclusion of 51 patients among total of 109 patients) 34 patients had no ARDS and 24 patients had ARDS. The clinical feature like dyspnoea, cough, low blood pressure (MAP<65 mmHg), IVC collapsibility (by ultrasound) and laboratory parameters like decreased Hemoglobin, Hematocrit, Serum albumin, and increased serum creatinine, serum total bilirubin, SGOT, SGPT, LDH, CPK, and serum lactate were statistically significant (P < 0.0001) in scrub typhus patients group with ARDS. The higher titers of Weil-felix can be correlated with more severe form of disease according to our observation. All 34 Scrub typhus patients without ARDS recovered completely. Among 24 Scrub typhus patients with ARDS, 22 patients recovered, and 2 patients died. Scrub typhus is an important differential diagnosis in a patients having fever with thrombocytopenia. Scrub typhus associated with ARDS has high morbidity and mortality. Early diagnosis and treatment with doxycycline can prevent the occurrence of ARDS.

Evaluation of cystoid change phenotypes in ocular toxoplasmosis using optical coherence tomography.

PubMed

Ouyang, Yanling; Pleyer, Uwe; Shao, Qing; Keane, Pearse A; Stübiger, Nicole; Joussen, Antonia M; Sadda, Srinivas R; Heussen, Florian M

2014-01-01

To present unique cystoid changes occurring in patients with ocular toxoplasmosis observed in spectral domain optical coherence tomography (OCT). Forty-six patients (80 eyes) with a diagnosis of ocular toxoplasmosis, who underwent volume OCT examination between January 2005 and October 2012, were retrospectively collected. Review of clinical examination findings, fundus photographs, fluorescein angiograms (FA) and OCT image sets obtained at initial visits and follow-up. Qualitative and quantitative analyses of cystoid space phenotypes visualized using OCT. Of the 80 eyes included, 17 eyes (15 patients) demonstrated cystoid changes in the macula on OCT. Six eyes (7.5%) had cystoid macular edema (CME), 2 eyes (2.5%) had huge outer retinal cystoid space (HORC), 12 eyes (15%) had cystoid degeneration and additional 3 eyes (3.75%) had outer retinal tubulation due to age related macular degeneration. In one eye with HORC, the lesion was seen in the photoreceptor outer segment, accompanied by photoreceptor elongation and splitting. Three eyes presented with paravascular cystoid degeneration in the inner retina without other macular OCT abnormality. In this study, different phenotypes of cystoid spaces seen in eyes with ocular toxoplasmosis using spectral domain OCT (SD-OCT) were demonstrated. CME presented as an uncommon feature, consistently with previous findings. Identification of rare morphological cystoid features (HORC with/without photoreceptor enlongation or splitting) on clinical examination had provided evidence to previous experimental models, which may also expand the clinical spectrum of the disease. Cystoid degeneration in the inner retina next to the retinal vessels in otherwise "normal" looking macula was observed, which may suggest more often clinical evaluation for those patients. Further studies are needed to verify the relevance of cystoid features seen on SD-OCT in assisting with the diagnosis and management of ocular toxoplasmosis.

Evaluation of Cystoid Change Phenotypes in Ocular Toxoplasmosis Using Optical Coherence Tomography

PubMed Central

Shao, Qing; Keane, Pearse A.; Stübiger, Nicole; Joussen, Antonia M.; Sadda, Srinivas R.; Heussen, Florian M.

2014-01-01

Purpose To present unique cystoid changes occurring in patients with ocular toxoplasmosis observed in spectral domain optical coherence tomography (OCT). Methods Forty-six patients (80 eyes) with a diagnosis of ocular toxoplasmosis, who underwent volume OCT examination between January 2005 and October 2012, were retrospectively collected. Review of clinical examination findings, fundus photographs, fluorescein angiograms (FA) and OCT image sets obtained at initial visits and follow-up. Qualitative and quantitative analyses of cystoid space phenotypes visualized using OCT. Results Of the 80 eyes included, 17 eyes (15 patients) demonstrated cystoid changes in the macula on OCT. Six eyes (7.5%) had cystoid macular edema (CME), 2 eyes (2.5%) had huge outer retinal cystoid space (HORC), 12 eyes (15%) had cystoid degeneration and additional 3 eyes (3.75%) had outer retinal tubulation due to age related macular degeneration. In one eye with HORC, the lesion was seen in the photoreceptor outer segment, accompanied by photoreceptor elongation and splitting. Three eyes presented with paravascular cystoid degeneration in the inner retina without other macular OCT abnormality. Conclusions In this study, different phenotypes of cystoid spaces seen in eyes with ocular toxoplasmosis using spectral domain OCT (SD-OCT) were demonstrated. CME presented as an uncommon feature, consistently with previous findings. Identification of rare morphological cystoid features (HORC with/without photoreceptor enlongation or splitting) on clinical examination had provided evidence to previous experimental models, which may also expand the clinical spectrum of the disease. Cystoid degeneration in the inner retina next to the retinal vessels in otherwise “normal” looking macula was observed, which may suggest more often clinical evaluation for those patients. Further studies are needed to verify the relevance of cystoid features seen on SD-OCT in assisting with the diagnosis and management of ocular toxoplasmosis. PMID:24505261

Clinical and autoantibody profile in systemic sclerosis: baseline characteristics from a West Malaysian cohort.

PubMed

Sujau, Ibrahim; Ng, Chin Teck; Sthaneshwar, Pavai; Sockalingam, Sargunan; Cheah, Tien Eang; Yahya, Fariz; Jasmin, Raja

2015-05-01

To evaluate the clinical and antibody profile of systemic sclerosis (SSc) in a Malaysian cohort. Consecutive patients with SSc in University Malaya Medical Centre from March to November 2012 were included in this study. In addition to clinical characterization, all subjects underwent autoantibody testing using Euroline immunoblot assay. The association between clinical features and autoantibody profile was evaluated. There were 31, predominantly Chinese (45.2%), subjects. Limited cutaneous disease was the most common subtype (71%). Raynaud's phenomenon was the most commonly observed feature (83.9%). Nine (29%) had esophageal dysmotility symptoms and 23 (74.2%), including all patients with diffuse SSc, had symptoms of gastro-esophageal reflux disease (GERD). Restrictive pattern on pulmonary function test and evidence of lung fibrosis were seen in more than 70% of patients. Echocardiographic evidence of pulmonary arterial hypertension was seen in 58.1%. Telangiectasia, calcinosis, digital ulcers, digital pulp loss or pitting were seen more commonly in the diffuse subtype. The two most prevalent autoantibodies were anti-Scl-70 and anti-Ro-52. The presence of anti-Scl-70 was significantly associated with restrictive lung disease (P = 0.05). Anti-Ro-52 was associated with control subjects with other autoimmune diseases (P = 0.043). The presence of anti-PM-Scl-75 was associated with overlap syndrome (P = 0.032). Patients with anticentromere antibodies were more likely to have vasculitic rash (P = 0.012). In Malaysia, SSc most commonly affects the Chinese. Limited cutaneous is more common than diffuse subtype. Features of CREST (calcinosis, Reynaud disease, esophageal dysmotility, sclerodactyly, telangiectasia) are more commonly observed in the diffuse cutaneous subgroup. Anti-Scl-70 and anti-Ro-52 antibodies are promising biomarkers for pulmonary involvement in SSc. © 2014 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

Cutaneous metastasis: clinicopathological study of 72 patients from a tertiary care center in Lebanon.

PubMed

El Khoury, Jinane; Khalifeh, Ibrahim; Kibbi, Abdul-Ghani; Abbas, Ossama

2014-02-01

Cutaneous metastasis is the result of malignant cell spread from primary malignancy to the skin. This is not uncommon, and rates reported in the literature are as high as 10.4%. To the best of our knowledge, there are no studies assessing the epidemiologic, clinical, and histopathological features of cutaneous metastasis in our region. To assess the clinical and histopathological findings of all patients diagnosed with cutaneous metastasis at the American University of Beirut - Medical Center (AUB-MC) and to compare our findings with those published in the literature. Retrospective clinical and histopathologic evaluation of all cases diagnosed as cutaneous metastasis at AUB-MC between 1992 and 2010. A total of 72 patients (50 females and 22 males) were identified. The mean age at diagnosis was 55.2 years. The most common primary cancer was breast cancer in women and laryngeal cancer in men. The most common clinical presentation was a single nodule in 27% of cases followed by multiple nodules in 23%. Cutaneous metastasis lesions were asymptomatic in the majority. The chest was the most commonly affected site. On microscopy, the majority of metastatic cases were adenocarcinomas (74%). This is, to our knowledge, the first study characterizing the epidemiological, clinical, and histopathological features of cutaneous metastasis in the Lebanese population. The clinical and histopathological features observed were in concordance with the published literature, with minor differences. © 2013 The International Society of Dermatology.

Features of ciguatera fish poisoning cases in Hong Kong 2004-2007.

PubMed

Wong, Chun-Kwan; Hung, Patricia; Lee, Kellie L H; Mok, Tina; Chung, Thomas; Kam, Kai-Man

2008-12-01

To review the clinical features and laboratory investigations of ciguatera patients in Hong Kong between 2004 and 2007 in order to show the timely sampling of implicated fish from ciguatera victims and application of validated mouse bioassay for confirming suspected clinical cases of ciguatera. Diagnosis of the ciguatera victims was based on history of coral fish consumption and clinical presentations stated in official guidelines for clinical diagnosis of ciguatera fish poisoning in Hong Kong. Food remnants of coral fish samples were collected swiftly from ciguatera victims between 2004 and 2007 for ciguatoxins (CTXs) analysis. Major clinical symptoms in ciguatera patients included gastrointestinal and neurological effects including limb numbness and diarrhoea, which developed at 0.5 to 15 hours after consumption of fish. In most cases, neurological symptoms were more common than gastrointestinal symptoms. A broad range of attack rate (10%-100%) was observed in each ciguatera outbreak. Validated mouse bioassay on ether extracts of the food remnant samples confirmed that all were CTXs-positive (<0.5 - 4.3 MU/20 mg ether extract) and directly linked to the corresponding ciguatera cases. Consistency between clinical and laboratory analysis for ciguatera poisoning illustrates the application of laboratory mouse bioassay in a timely fashion for confirming ciguatera poisoning cases and implementing effective public health measures. With further improvement in laboratory techniques, features of ciguatera fish poisoning cases can be better defined. Further studies are needed to determine the risk of each class of CTXs (Pacific-, Indian- and Caribbean-CTXs) in Hong Kong.

Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia.

PubMed

Cortés-Vicente, Elena; Turon-Sans, Janina; Gelpi, Ellen; Clarimón, Jordi; Borrego-Écija, Sergi; Dols-Icardo, Oriol; Illán-Gala, Ignacio; Lleó, Alberto; Illa, Isabel; Blesa, Rafael; Al-Chalabi, Ammar; Rojas-García, Ricard

2018-06-08

To determine the motor phenotype and outcome in a clinically ascertained group of patients with motor neuron disease (MND) and frontotemporal dementia (FTD). This is an observational retrospective clinical study of patients fulfilling the clinical criteria for MND-FTD. A contemporary series of patients with amyotrophic lateral sclerosis (ALS) without dementia were included for comparison. Demographic, clinical, genetic, and neuropathological data were collected. A descriptive and comparative data analysis was performed. We identified 22 patients with MND-FTD. Selective distal upper limb muscle weakness and atrophy with non-significant lower limb weakness during follow-up was the most frequent motor pattern, present in 18 patients - in 15 of them associated with severe dysphagia. Aspiration pneumonia was the most common cause of death (12/19; 63%) despite gastrostomy. One-third of the patients did not develop upper motor neuron dysfunction. When compared to classic ALS without dementia (n = 162), these features were significantly different. A neuro-pathological examination was performed on 7 patients, and it confirmed the presence of MND with TDP43 protein aggregates in all patients. The MND-FTD patients frequently displayed a distinctive motor pattern characterized by weakness and atrophy in distal upper limb muscles and dysphagia, with no or little spreading to other regions. These features may help to define specific subgroups of patients, which is important with regard to clinical management, outcome, and research. © 2018 S. Karger AG, Basel.

Association of Systemic Lupus Erythematosus Clinical Features with European Population Genetic Substructure

PubMed Central

Calaza, Manuel; Witte, Torsten; Papasteriades, Chryssa; Marchini, Maurizio; Migliaresi, Sergio; Kovacs, Attila; Ordi-Ros, Josep; Bijl, Marc; Santos, Maria Jose; Ruzickova, Sarka; Pullmann, Rudolf; Carreira, Patricia; Skopouli, Fotini N.; D'Alfonso, Sandra; Sebastiani, Gian Domenico; Suarez, Ana; Blanco, Francisco J.; Gomez-Reino, Juan J.; Gonzalez, Antonio

2011-01-01

Systemic Lupus Erythematosus (SLE) is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population genetic substructure. Data from 1413 patients of European ancestry recruited in nine countries was tested for association with genotypes of top ancestry informative markers. This analysis was done with logistic regression between phenotypes and genotypes or principal components extracted from them. We used a genetic additive model and adjusted for gender and disease duration. Three clinical features showed association with ancestry informative markers: autoantibody production defined as immunologic disorder (P = 6.8×10−4), oral ulcers (P = 6.9×10−4) and photosensitivity (P = 0.002). Immunologic disorder was associated with genotypes more common in Southern European ancestries, whereas the opposite trend was observed for photosensitivity. Oral ulcers were specifically more common in patients of Spanish and Portuguese self-reported ancestry. These results should be taken into account in future research and suggest new hypotheses and possible underlying mechanisms to be investigated. A first hypothesis linking photosensitivity with variation in skin pigmentation is suggested. PMID:22194982

Pathological features of polyneuropathy in three dogs.

PubMed

Tsuboi, Masaya; Uchida, Kazuyuki; Ide, Tetsuya; Ogawa, Mizue; Inagaki, Takehiko; Tamura, Shinji; Saito, Miyoko; Chambers, James K; Nakayama, Hiroyuki

2013-01-01

Canine polyneuropathy is a neurological disorder characterized by a dysfunction of multiple peripheral nerves. The etiology of the disease is diverse; it may occur in cases of infectious, immune-mediated, or hereditary conditions or in association with endocrinopathy, neoplasm, or chemical intoxication. It is often difficult to determine the etiology through clinical symptoms. The aim of this study is to investigate pathological differences among three canine polyneuropathy cases with each presumably having a different etiology. Cases included a 13-month-old female border collie (Dog No.1), a 21-month-old male chihuahua (Dog No.2) and an 11-year-old male beagle (Dog No.3). Clinical examinations revealed hindlimb ataxia and sensory loss in Dog No.1, forelimb paralysis and vertebral pain in Dog No.2, and paddling-gait and hypothyroidism in Dog No.3. Histopathologically, axonal swelling and pale myelin were observed in Dog No.1. Giant axons mimicking giant axonal neuropathy were obvious in Dog No.2. Dog No.3 showed atrophic axons and severe interstitial edema. Distributions of peripheral nerve lesions coincided with respective clinical symptoms. According to their clinical and pathological features, Dogs No.1 and No.2 were suspected of hereditary polyneuropathy, while Dog No.3 seemed to have hypothyroidism-associated polyneuropathy. As each case demonstrated unique pathological features, different pathogeneses of peripheral nerve dysfunction were suggested.

Radiology's Achilles' heel: error and variation in the interpretation of the Röntgen image.

PubMed

Robinson, P J

1997-11-01

The performance of the human eye and brain has failed to keep pace with the enormous technical progress in the first full century of radiology. Errors and variations in interpretation now represent the weakest aspect of clinical imaging. Those interpretations which differ from the consensus view of a panel of "experts" may be regarded as errors; where experts fail to achieve consensus, differing reports are regarded as "observer variation". Errors arise from poor technique, failures of perception, lack of knowledge and misjudgments. Observer variation is substantial and should be taken into account when different diagnostic methods are compared; in many cases the difference between observers outweighs the difference between techniques. Strategies for reducing error include attention to viewing conditions, training of the observers, availability of previous films and relevant clinical data, dual or multiple reporting, standardization of terminology and report format, and assistance from computers. Digital acquisition and display will probably not affect observer variation but the performance of radiologists, as measured by receiver operating characteristic (ROC) analysis, may be improved by computer-directed search for specific image features. Other current developments show that where image features can be comprehensively described, computer analysis can replace the perception function of the observer, whilst the function of interpretation can in some cases be performed better by artificial neural networks. However, computer-assisted diagnosis is still in its infancy and complete replacement of the human observer is as yet a remote possibility.

'Athlete's heart' in prepubertal children.

PubMed

Rowland, T W; Delaney, B C; Siconolfi, S F

1987-05-01

Bradycardia, cardiomegaly, heart murmurs, and ECG changes are typically observed in adult endurance athletes, but frequency of such changes among children involved in sports training is unclear. Pediatricians need to be aware of whether these features of the "athlete's heart" occur in their patients, because such features may mimic those of cardiac disease. Fourteen prepubertal competitive male swimmers were evaluated by physical examination, ECG and echocardiogram, and findings were compared to those of a group of active but nontrained control boys. Lower resting heart rates and echocardiographic manifestations of chronic left ventricular volume overload were observed among the swimmers. These changes were not manifest on physical examination, however, and no significant ECG alterations were identified among the athletes. These findings indicate that, although features of the athlete's heart are present in children involved in endurance training, seldom will these findings simulate heart disease or be apparent on routine clinical examination.

Magnetic resonance imaging features of Great Danes with and without clinical signs of cervical spondylomyelopathy.

PubMed

Martin-Vaquero, Paula; da Costa, Ronaldo C

2014-08-15

To characterize and compare the MRI morphological features of the cervical vertebral column of Great Danes with and without clinical signs of cervical spondylomyelopathy (CSM). Prospective cohort study. 30 Great Danes (15 clinically normal and 15 CSM-affected). All dogs underwent MRI of the cervical vertebral column (C2-3 through T1-2). Features evaluated included sites of subarachnoid space compression, spinal cord compression, or both; degree, cause, and direction of compression; MRI signal changes of the spinal cord; articular process (facet) joint characteristics; internal vertebral venous plexus visibility; and presence of extradural synovial cysts as well as presence and degree of intervertebral disk degeneration and foraminal stenosis. Clinically normal and CSM-affected dogs had 11 and 61 compressive sites, respectively, detected with MRI. All CSM-affected dogs had ≥ 1 site of spinal cord compression. No signal changes were observed in spinal cords of normal dogs, whereas 14 sites of hyperintensity were found in 9 CSM-affected dogs. Foraminal stenosis was present in 11 clinically normal and all CSM-affected dogs. The number of stenotic foraminal sites was significantly greater in the CSM-affected group, and severe stenosis appeared to be more common in this group than in the clinically normal group. Significant differences were identified between clinically normal and CSM-affected dogs with regard to amount of synovial fluid evident, regularity of articular surfaces, degree of articular process joint proliferation, and internal vertebral venous plexus visibility. Abnormalities were detected with MRI in several clinically normal Great Danes. Severe spinal cord compression, number of stenotic foraminal sites, and signal changes within the spinal cord distinguished CSM-affected from clinically normal Great Danes.

High-level intuitive features (HLIFs) for intuitive skin lesion description.

PubMed

Amelard, Robert; Glaister, Jeffrey; Wong, Alexander; Clausi, David A

2015-03-01

A set of high-level intuitive features (HLIFs) is proposed to quantitatively describe melanoma in standard camera images. Melanoma is the deadliest form of skin cancer. With rising incidence rates and subjectivity in current clinical detection methods, there is a need for melanoma decision support systems. Feature extraction is a critical step in melanoma decision support systems. Existing feature sets for analyzing standard camera images are comprised of low-level features, which exist in high-dimensional feature spaces and limit the system's ability to convey intuitive diagnostic rationale. The proposed HLIFs were designed to model the ABCD criteria commonly used by dermatologists such that each HLIF represents a human-observable characteristic. As such, intuitive diagnostic rationale can be conveyed to the user. Experimental results show that concatenating the proposed HLIFs with a full low-level feature set increased classification accuracy, and that HLIFs were able to separate the data better than low-level features with statistical significance. An example of a graphical interface for providing intuitive rationale is given.

The Airway Microbiome in Severe Asthma: Associations with Disease Features and Severity

PubMed Central

Huang, Yvonne J.; Nariya, Snehal; Harris, Jeffrey M.; Lynch, Susan V.; Choy, David F.; Arron, Joseph R.; Boushey, Homer

2015-01-01

Background Asthma is heterogeneous, and airway dysbiosis is associated with clinical features in mild-moderate asthma. Whether similar relationships exist among patients with severe asthma is unknown. Objective To evaluate relationships between the bronchial microbiome and features of severe asthma. Methods Bronchial brushings from 40 participants in the BOBCAT study (Bronchoscopic Exploratory Research Study of Biomarkers in Corticosteroid-refractory Asthma) were evaluated using 16S rRNA-based methods. Relationships to clinical and inflammatory features were analyzed among microbiome-profiled subjects. Secondarily, bacterial compositional profiles were compared between severe asthmatics, and previously studied healthy controls (n=7), and mild-moderate asthma subjects (n=41). Results In severe asthma, bronchial bacterial composition was associated with several disease-related features, including body-mass index (BMI; Bray-Curtis distance PERMANOVA, p < 0.05), changes in Asthma Control Questionnaire (ACQ) scores (p < 0.01), sputum total leukocytes (p = 0.06) and bronchial biopsy eosinophils (per mm2; p = 0.07). Bacterial communities associated with worsening ACQ and sputum total leukocytes (predominantly Proteobacteria) differed markedly from those associated with BMI (Bacteroidetes/Firmicutes). In contrast, improving/stable ACQ and bronchial epithelial gene expression of FKBP5, an indicator of steroid responsiveness, correlated with Actinobacteria. Mostly negative correlations were observed between biopsy eosinophils and Proteobacteria. No taxa were associated with a T-helper type 2-related epithelial gene expression signature, but expression of Th17-related genes was associated with Proteobacteria. Severe asthma subjects, compared to healthy controls or mild-moderate asthmatics, were significantly enriched in Actinobacteria, although the largest differences observed involved a Klebsiella genus member (7.8 fold-increase in severe asthma, padj < 0.001) Conclusions Specific microbiota are associated with and may modulate inflammatory processes in severe asthma and related phenotypes. Airway dysbiosis in severe asthma appears to differ from that observed in milder asthma in the setting of inhaled corticosteroid use. PMID:26220531

Age dependence of clinical and pathological manifestations of autoimmune demyelination. Implications for multiple sclerosis.

PubMed

Smith, M E; Eller, N L; McFarland, H F; Racke, M K; Raine, C S

1999-10-01

A prominent feature of the clinical spectrum of multiple sclerosis (MS) is its high incidence of onset in the third decade of life and the relative rarity of clinical manifestations during childhood and adolescence, features suggestive of age-related restriction of clinical expression. Experimental allergic encephalomyelitis (EAE), a model of central nervous system (CNS) autoimmune demyelination with many similarities to MS, has a uniform rapid onset and a high incidence of clinical and pathological disease in adult (mature) animals. Like MS, EAE is most commonly seen and studied in female adults. In this study, age-related resistance to clinical EAE has been examined with the adoptive transfer model of EAE in SJL mice that received myelin basic protein-sensitized cells from animals 10 days (sucklings) to 12 weeks (young adults) of age. A variable delay before expression of clinical EAE was observed between the different age groups. The preclinical period was longest in the younger (<14 days of age) animals, and shortest in animals 6 to 8 weeks old at time of transfer. Young animals initially resistant to EAE eventually expressed well-developed clinical signs by 6 to 7 weeks of age. This was followed by a remitting, relapsing clinical course. For each age at time of sensitization, increased susceptibility of females compared to males was observed. Examination of the CNS of younger animal groups during the preclinical period showed lesions of acute EAE. Older age groups developed onset of signs coincident with acute CNS lesions. This age-related resistance to clinical EAE in developing mice is reminiscent of an age-related characteristic of MS previously difficult to study in vivo. The associated subclinical CNS pathology and age-related immune functions found in young animals may be relevant to the increasing clinical expression of MS with maturation, and may allow study of factors associated with the known occasional poor correlation of CNS inflammation and demyelination and clinical changes in this disease.

Cluster headache in Greece: an observational clinical and demographic study of 302 patients.

PubMed

Vikelis, Michail; Rapoport, Alan M

2016-12-01

Cluster headache (CH) is considered the most excruciating primary headache syndrome; although much less prevalent than migraine, it is not rare as it affects more than 1/1000 people. While its clinical presentation is considered stereotypic, atypical features are often encountered. Internationally, cluster headache is often misdiagnosed, undertreated and mistreated. We prospectively studied 302 CH patients, all examined by the same headache specialist. The aim of our study was to describe the demographic and clinical characteristics of CH patients in Greece and draw attention to under-management, under-treatment and mis-treatment often encountered in clinical practice; our purpose is to improve recognition and successful treatment of cluster patients by Greek neurologists and other physicians. In the present cohort, clinical characteristics of CH are similar to those described in other populations. Beyond the standard clinical characteristics, features like side shifts (12.6 %), location of maximal pain intensity outside the first trigeminal branch division (10.2 %), lack of autonomic features (7 %), presence of associated features of migraine and aggravation by physical activity (10 %) were encountered. Four out of five patients had consulted a physician prior to diagnosis. The median number of physicians seen prior to diagnosis was 3 and the median time to diagnosis was 5 years, though it improved for patients with recent onset. Chronic cluster headache, side shifts, pain location in the face or the back of the head and aggravation by physical activity were found, among others, to be statistically significantly related to delayed diagnosis or more physicians seen prior to diagnosis. Even properly diagnosed patients were often undertreated or mistreated. Cluster headache, in a large cohort of Greek patients, has the same phenotypic characteristics as described internationally. Uncommon clinical features do exist and physicians should be aware of those, since they may eventuate in diagnostic problems. Most CH patients in Greece remain misdiagnosed or undiagnosed for rather lengthy periods of time, but time to diagnosis has improved recently. Even after diagnosis, treatment received was suboptimal.

[The neuroanatomy of attention deficit hyperactivity disorder: neuropsychological and clinical correlates].

PubMed

Albert, J; Fernandez-Jaen, A; Martin Fernandez-Mayoralas, D; Lopez-Martin, S; Fernandez-Perrone, A L; Calleja-Perez, B; Jimenez-De la Pena, M; Recio-Rodriguez, M

2016-07-16

The development of structural magnetic resonance scanning and new methods of analysis has made it possible to explore, in a hitherto unknown way, the neuroanatomical bases of attention deficit hyperactivity disorder (ADHD). Yet, little is known about the relation between the clinical symptoms and the neuropsychological dysfunctions characterising ADHD and the neuroanatomical alterations that are observed. To explore the relation between neuroanatomy, clinical features and neuropsychology in ADHD. At group level, there are a number of marked differences between the brain of children, adolescents and adults with ADHD and the brain of subjects with a typical development. These differences are observed cross-sectionally and longitudinally in all the measurements, both in the grey matter and in the white matter. Although still scarce, there is an increasing body of evidence showing that these differences are related with the core symptoms of the disorder and with the degree of clinical dysfunction. They also appear to be associated with cognitive functioning (mainly attention and inhibitory control). The relation among the different levels of analysis in the study of ADHD bring research closer to the clinical features and allows a better understanding and management of the disorder. Although progress is undoubtedly being made in this field, there are still many questions that need exploring in greater depth. There is a need for a better understanding of the association between the neuroanatomical measurements and each dimension of the symptoms, and their relationship with other neuropsychological processes that are also involved in the disorder.

The effect of defect cluster size and interpolation on radiographic image quality

NASA Astrophysics Data System (ADS)

Töpfer, Karin; Yip, Kwok L.

2011-03-01

For digital X-ray detectors, the need to control factory yield and cost invariably leads to the presence of some defective pixels. Recently, a standard procedure was developed to identify such pixels for industrial applications. However, no quality standards exist in medical or industrial imaging regarding the maximum allowable number and size of detector defects. While the answer may be application specific, the minimum requirement for any defect specification is that the diagnostic quality of the images be maintained. A more stringent criterion is to keep any changes in the images due to defects below the visual threshold. Two highly sensitive image simulation and evaluation methods were employed to specify the fraction of allowable defects as a function of defect cluster size in general radiography. First, the most critical situation of the defect being located in the center of the disease feature was explored using image simulation tools and a previously verified human observer model, incorporating a channelized Hotelling observer. Detectability index d' was obtained as a function of defect cluster size for three different disease features on clinical lung and extremity backgrounds. Second, four concentrations of defects of four different sizes were added to clinical images with subtle disease features and then interpolated. Twenty observers evaluated the images against the original on a single display using a 2-AFC method, which was highly sensitive to small changes in image detail. Based on a 50% just-noticeable difference, the fraction of allowed defects was specified vs. cluster size.

Use of Continuous Electronic Fetal Monitoring in a Preterm Fetus: Clinical Dilemmas and Recommendations for Practice

PubMed Central

Afors, Karolina; Chandraharan, Edwin

2011-01-01

The aim of intrapartum continuous electronic fetal monitoring using a cardiotocograph (CTG) is to identify a fetus exposed to intrapartum hypoxic insults so that timely and appropriate action could be instituted to improve perinatal outcome. Features observed on a CTG trace reflect the functioning of somatic and autonomic nervous systems and the fetal response to hypoxic or mechanical insults during labour. Although, National Guidelines on electronic fetal monitoring exist for term fetuses, there is paucity of recommendations based on scientific evidence for monitoring preterm fetuses during labour. Lack of evidence-based recommendations may pose a clinical dilemma as preterm births account for nearly 8% (1 in 13) live births in England and Wales. 93% of these preterm births occur after 28 weeks, 6% between 22–27 weeks, and 1% before 22 weeks. Physiological control of fetal heart rate and the resultant features observed on the CTG trace differs in the preterm fetus as compared to a fetus at term making interpretation difficult. This review describes the features of normal fetal heart rate patterns at different gestations and the physiological responses of a preterm fetus compared to a fetus at term. We have proposed an algorithm “ACUTE” to aid management. PMID:21922045

Detection of relationships among multi-modal brain imaging meta-features via information flow.

PubMed

Miller, Robyn L; Vergara, Victor M; Calhoun, Vince D

2018-01-15

Neuroscientists and clinical researchers are awash in data from an ever-growing number of imaging and other bio-behavioral modalities. This flow of brain imaging data, taken under resting and various task conditions, combines with available cognitive measures, behavioral information, genetic data plus other potentially salient biomedical and environmental information to create a rich but diffuse data landscape. The conditions being studied with brain imaging data are often extremely complex and it is common for researchers to employ more than one imaging, behavioral or biological data modality (e.g., genetics) in their investigations. While the field has advanced significantly in its approach to multimodal data, the vast majority of studies still ignore joint information among two or more features or modalities. We propose an intuitive framework based on conditional probabilities for understanding information exchange between features in what we are calling a feature meta-space; that is, a space consisting of many individual featurae spaces. Features can have any dimension and can be drawn from any data source or modality. No a priori assumptions are made about the functional form (e.g., linear, polynomial, exponential) of captured inter-feature relationships. We demonstrate the framework's ability to identify relationships between disparate features of varying dimensionality by applying it to a large multi-site, multi-modal clinical dataset, balance between schizophrenia patients and controls. In our application it exposes both expected (previously observed) relationships, and novel relationships rarely considered investigated by clinical researchers. To the best of our knowledge there is not presently a comparably efficient way to capture relationships of indeterminate functional form between features of arbitrary dimension and type. We are introducing this method as an initial foray into a space that remains relatively underpopulated. The framework we propose is powerful, intuitive and very efficiently provides a high-level overview of a massive data space. In our application it exposes both expected relationships and relationships very rarely considered worth investigating by clinical researchers. Copyright © 2017 Elsevier B.V. All rights reserved.

Predictors of the development of myocarditis or acute renal failure in patients with leptospirosis: An observational study

PubMed Central

2012-01-01

Background Leptospirosis has a varied clinical presentation with complications like myocarditis and acute renal failure. There are many predictors of severity and mortality including clinical and laboratory parameters. Early detection and treatment can reduce complications. Therefore recognizing the early predictors of the complications of leptospirosis is important in patient management. This study was aimed at determining the clinical and laboratory predictors of myocarditis or acute renal failure. Methods This was a prospective descriptive study carried out in the Teaching Hospital, Kandy, from 1st July 2007 to 31st July 2008. Patients with clinical features compatible with leptospirosis case definition were confirmed using the Microscopic Agglutination Test (MAT). Clinical features and laboratory measures done on admission were recorded. Patients were observed for the development of acute renal failure or myocarditis. Chi-square statistics, Fisher's exact test and Mann-Whitney U test were used to compare patients with and without complications. A logistic regression model was used to select final predictor variables. Results Sixty two confirmed leptospirosis patients were included in the study. Seven patients (11.3%) developed acute renal failure and five (8.1%) developed myocarditis while three (4.8%) had both acute renal failure and myocarditis. Conjunctival suffusion - 40 (64.5%), muscle tenderness - 28 (45.1%), oliguria - 20 (32.2%), jaundice - 12 (19.3%), hepatomegaly - 10 (16.1%), arrhythmias (irregular radial pulse) - 8 (12.9%), chest pain - 6 (9.7%), bleeding - 5 (8.1%), and shortness of breath (SOB) 4 (6.4%) were the common clinical features present among the patients. Out of these, only oliguria {odds ratio (OR) = 4.14 and 95% confidence interval (CI) 1.003-17.261}, jaundice (OR = 5.13 and 95% CI 1.149-28.003), and arrhythmias (OR = 5.774 and 95% CI 1.001-34.692), were predictors of myocarditis or acute renal failure and none of the laboratory measures could predict the two complications. Conclusions This study shows that out of clinical and laboratory variables, only oliguria, jaundice and arrhythmia are strong predictors of development of acute renal failure or myocarditis in patients with leptospirosis presented to Teaching Hospital of Kandy, Sri Lanka. PMID:22243770

A reference dataset for deformable image registration spatial accuracy evaluation using the COPDgene study archive

NASA Astrophysics Data System (ADS)

Castillo, Richard; Castillo, Edward; Fuentes, David; Ahmad, Moiz; Wood, Abbie M.; Ludwig, Michelle S.; Guerrero, Thomas

2013-05-01

Landmark point-pairs provide a strategy to assess deformable image registration (DIR) accuracy in terms of the spatial registration of the underlying anatomy depicted in medical images. In this study, we propose to augment a publicly available database (www.dir-lab.com) of medical images with large sets of manually identified anatomic feature pairs between breath-hold computed tomography (BH-CT) images for DIR spatial accuracy evaluation. Ten BH-CT image pairs were randomly selected from the COPDgene study cases. Each patient had received CT imaging of the entire thorax in the supine position at one-fourth dose normal expiration and maximum effort full dose inspiration. Using dedicated in-house software, an imaging expert manually identified large sets of anatomic feature pairs between images. Estimates of inter- and intra-observer spatial variation in feature localization were determined by repeat measurements of multiple observers over subsets of randomly selected features. 7298 anatomic landmark features were manually paired between the 10 sets of images. Quantity of feature pairs per case ranged from 447 to 1172. Average 3D Euclidean landmark displacements varied substantially among cases, ranging from 12.29 (SD: 6.39) to 30.90 (SD: 14.05) mm. Repeat registration of uniformly sampled subsets of 150 landmarks for each case yielded estimates of observer localization error, which ranged in average from 0.58 (SD: 0.87) to 1.06 (SD: 2.38) mm for each case. The additions to the online web database (www.dir-lab.com) described in this work will broaden the applicability of the reference data, providing a freely available common dataset for targeted critical evaluation of DIR spatial accuracy performance in multiple clinical settings. Estimates of observer variance in feature localization suggest consistent spatial accuracy for all observers across both four-dimensional CT and COPDgene patient cohorts.

[Neurotic disorders in members of engine crews].

PubMed

Kazakov, V E

2004-01-01

338 members of engine crews were observed. 159 were found to have neurotic and anxious-phobic reactions before any clinical nosology. It was established that misunderstanding between engine driver and his helpmate, autonomic dysfunction, individual features of character and family conflicts play the main part in the development of neurotic reactions.

Arcobacter Species in Humans1

PubMed Central

Dediste, Anne; Houf, Kurt; Ibekwem, Sandra; Souayah, Hichem; Cadranel, Sammy; Douat, Nicole; Zissis, G.; Butzler, J.-P.; Vandamme, P.

2004-01-01

During an 8-year study period, Arcobacter butzleri was the fourth most common Campylobacter-like organism isolated from 67,599 stool specimens. Our observations suggest that A. butzleri displays microbiologic and clinical features similar to those of Campylobacter jejuni; however, A. butzleri is more frequently associated with a persistent, watery diarrhea. PMID:15504280

Jervell and Lange-Nielsen Syndrome (Long QT Syndrome).

ERIC Educational Resources Information Center

Hulbert, T. P.

1994-01-01

Clinical features, pathogenetic hypotheses, and symptoms of the cardio-auditory or surdo-cardiac disorder first reported by Jervell and Lange-Nielsen are described, and methods of diagnosis and treatment are presented, to alert teachers and other professionals to potentially life-threatening symptoms they may observe when working with deaf and…

Pedunculated and Telangiectatic Merkel Cell Carcinoma: An Unusual Clinical Presentation

PubMed Central

Errichetti, Enzo; Piccirillo, Angelo; Ricciuti, Federico; Ricciuti, Francesco

2013-01-01

Merkel cell carcinoma (MCC) is an uncommon aggressive neuroendocrine tumor of the skin that classically presents on chronic sun-damaged skin as a skin-colored, red or violaceous, firm and nontender papule or nodule with a smooth and shiny surface. Ulcerations can be observed very seldom and only in very advanced lesions. We present a unique case of a MCC presenting with two unusual clinical features: The Telangiectatic surface and the pedunculated aspect. PMID:23723504

Clinical symptoms of psychotic episodes and 25-hydroxy vitamin D serum levels in black first-generation immigrants.

PubMed

Dealberto, M-J

2013-12-01

Dark-skinned immigrants have a higher risk for schizophrenia and other psychoses than other immigrants. The first British studies reported that first-generation immigrants (FGIs) from the Caribbean presented atypical psychoses. This study examines the characteristics of psychotic episodes in black FGIs to Canada. The charts of 18 FGIs from Africa and Haiti, extracted from a series of 20 black patients consecutively admitted to Psychiatry, were retrospectively reviewed regarding clinical features, diagnoses and vitamin D levels. Young FGIs presented acute psychotic episodes with abrupt onset, florid positive symptoms, few negative symptoms and good evolution. The onset was more insidious in older FGIs. Overall, catatonia was very frequent (28%), and mood symptoms still more frequent (44%). No cognitive decline was observed during follow-up. Serum levels of 25-hydroxy vitamin D were in the insufficiency range. Supplementation at 1000 IU/day did not restore normal levels. The clinical features of psychotic episodes in black FGIs are similar to those reported in dark-skinned FGIs to other countries. They are also observed in other immigrants and in non-immigrants. These atypical psychoses are possibly related to a recent vitamin D deficit. This hypothesis should be tested by clinical trials of sufficient vitamin D supplementation. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Subcutaneous interferon β-1a in pediatric patients with multiple sclerosis: Regional differences in clinical features, disease management, and treatment outcomes in an international retrospective study.

PubMed

Krupp, Lauren B; Pohl, Daniela; Ghezzi, Angelo; Boyko, Alexey; Tenembaum, Silvia; Chen, Liang; Aycardi, Ernesto; Banwell, Brenda

2016-04-15

To further understand management of pediatric patients with multiple sclerosis (MS), we examined disease features, clinical practice patterns, and response to treatment in the United States (US) and seven other countries ('rest of World'; ROW). Anonymized data, recorded as part of routine clinical practice, were obtained from medical records (1997-2009) of study participants (who received subcutaneous interferon β-1a before age 18 years) from the US and ROW. Samples were stratified by age (preadolescents [<12 years] and adolescents [12-17 years]). US adolescents had a higher mean body mass index versus ROW adolescents (BMI; 27.2 versus 22.5 kg/m(2)), started disease-modifying therapy (DMT) earlier after the first relapse, were more likely to have received a DMT before initiating subcutaneous interferon β-1a, had a higher relapse rate, and were more likely to switch from subcutaneous interferon β-1a to another DMT before the end of the observation period. This retrospective analysis of a multinational sample of pediatric MS patients who received subcutaneous interferon β-1a found that those from the US had higher BMI, relapsed more frequently, and were managed differently, compared with ROW patients. Future prospective studies are needed to confirm these observations and ascertain their clinical significance. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

Feasibility of feature-based indexing, clustering, and search of clinical trials: A case study of breast cancer trials from ClinicalTrials.gov

PubMed Central

Boland, Mary Regina; Miotto, Riccardo; Gao, Junfeng; Weng, Chunhua

2013-01-01

Summary Background When standard therapies fail, clinical trials provide experimental treatment opportunities for patients with drug-resistant illnesses or terminal diseases. Clinical Trials can also provide free treatment and education for individuals who otherwise may not have access to such care. To find relevant clinical trials, patients often search online; however, they often encounter a significant barrier due to the large number of trials and in-effective indexing methods for reducing the trial search space. Objectives This study explores the feasibility of feature-based indexing, clustering, and search of clinical trials and informs designs to automate these processes. Methods We decomposed 80 randomly selected stage III breast cancer clinical trials into a vector of eligibility features, which were organized into a hierarchy. We clustered trials based on their eligibility feature similarities. In a simulated search process, manually selected features were used to generate specific eligibility questions to filter trials iteratively. Results We extracted 1,437 distinct eligibility features and achieved an inter-rater agreement of 0.73 for feature extraction for 37 frequent features occurring in more than 20 trials. Using all the 1,437 features we stratified the 80 trials into six clusters containing trials recruiting similar patients by patient-characteristic features, five clusters by disease-characteristic features, and two clusters by mixed features. Most of the features were mapped to one or more Unified Medical Language System (UMLS) concepts, demonstrating the utility of named entity recognition prior to mapping with the UMLS for automatic feature extraction. Conclusions It is feasible to develop feature-based indexing and clustering methods for clinical trials to identify trials with similar target populations and to improve trial search efficiency. PMID:23666475

Feasibility of feature-based indexing, clustering, and search of clinical trials. A case study of breast cancer trials from ClinicalTrials.gov.

PubMed

Boland, M R; Miotto, R; Gao, J; Weng, C

2013-01-01

When standard therapies fail, clinical trials provide experimental treatment opportunities for patients with drug-resistant illnesses or terminal diseases. Clinical Trials can also provide free treatment and education for individuals who otherwise may not have access to such care. To find relevant clinical trials, patients often search online; however, they often encounter a significant barrier due to the large number of trials and in-effective indexing methods for reducing the trial search space. This study explores the feasibility of feature-based indexing, clustering, and search of clinical trials and informs designs to automate these processes. We decomposed 80 randomly selected stage III breast cancer clinical trials into a vector of eligibility features, which were organized into a hierarchy. We clustered trials based on their eligibility feature similarities. In a simulated search process, manually selected features were used to generate specific eligibility questions to filter trials iteratively. We extracted 1,437 distinct eligibility features and achieved an inter-rater agreement of 0.73 for feature extraction for 37 frequent features occurring in more than 20 trials. Using all the 1,437 features we stratified the 80 trials into six clusters containing trials recruiting similar patients by patient-characteristic features, five clusters by disease-characteristic features, and two clusters by mixed features. Most of the features were mapped to one or more Unified Medical Language System (UMLS) concepts, demonstrating the utility of named entity recognition prior to mapping with the UMLS for automatic feature extraction. It is feasible to develop feature-based indexing and clustering methods for clinical trials to identify trials with similar target populations and to improve trial search efficiency.

Differentiating cognitive impairment due to corticobasal degeneration and Alzheimer disease

PubMed Central

Day, Gregory S.; Lim, Tae Sung; Hassenstab, Jason; Goate, Alison M.; Grant, Elizabeth A.; Roe, Catherine M.; Cairns, Nigel J.

2017-01-01

Objective: To identify clinical features that reliably differentiate individuals with cognitive impairment due to corticobasal degeneration (CBD) and Alzheimer disease (AD). Methods: Clinical features were compared between individuals with autopsy-proven CBD (n = 17) and AD (n = 16). All individuals presented with prominent cognitive complaints and were evaluated annually with semistructured interviews, detailed neurologic examinations, and neuropsychological testing. Results: Substantial overlap was observed between individuals with dementia due to CBD and AD concerning presenting complaints, median (range) duration of symptoms before assessment (CBD = 3.0 [0–5.0] years, AD = 2.5 [0–8.0] years; p = 0.96), and median (range) baseline dementia severity (Clinical Dementia Rating Sum of Boxes: CBD = 3.5 [0–12.0], AD = 4.25 [0.5–9.0], p = 0.49). Subsequent emergence of asymmetric motor/sensory signs, hyperreflexia, gait abnormalities, parkinsonism, falls, urinary incontinence, and extraocular movement abnormalities identified individuals with CBD, with ≥3 discriminating features detected in 80% of individuals within 3.1 years (95% confidence interval 2.9–3.3) of the initial assessment. Individuals with CBD exhibited accelerated worsening of illness severity and declines in episodic memory, executive functioning, and letter fluency. Semiquantitative pathologic assessment revealed prominent tau pathology within the frontal and parietal lobes of CBD cases. Comorbid AD neuropathologic change was present in 59% (10 of 17) of CBD cases but did not associate with the clinical phenotype, rate of dementia progression, or dementia duration. Conclusions: CBD may mimic AD dementia early in its disease course. Interval screening for discriminating clinical features may improve antemortem diagnosis in individuals with CBD and prominent cognitive symptoms. PMID:28235814

Clinical Features of Tuberculous Versus Crohn's Anal Fistulas, in Korea.

PubMed

Choi, Yong-Sung; Kim, Do-Sun; Lee, Jae-Bum; Kim, Jong-Kyu; Jung, Hyung-Joong; Lee, Seong-Dae; Song, Kee-Ho; Lee, Doo-Han; Kim, Mi-Jung

2015-12-01

In Western countries, tuberculous anal fistula may not be an issue because tuberculosis [TB] is not common, and this is a very rare form of extrapulmonary manifestation of TB. However in TB-endemic countries, careful diagnostic differentiation is required because the clinical features of TB anal fistula and Crohn's disease [CD] anal fistula are similar, with distinguishing features remaining unclear. We aimed to analyse the clinical features of TB versus CD anal fistulas. Among 13872 patients who underwent anal fistula surgery from 2003 to 2014, 87 patients with TB fistulas and 116 patients with CD fistulas were included. Data on the annual incidence of TB and CD, as well as the clinical, pathological, ultrasonographic, colonoscopic and surgical data were analysed. Compared with CD, the TB group was older [median: 37 vs 22 years] and underlying chronic illness was more common [20.3% vs 2.6%]. In the TB group, 46 patients [59.7%] showed active or inactive pulmonary TB, and acid-fast bacilli and caseating granuloma were found in 56.3% and 62.1%, respectively. During colonoscopy, mucosal lesions were observed more frequently in CD [96.9% vs 16.9%]. TB anal fistula is clinically very similar to CD anal fistula. In Korea, the incidence of CD anal fistula has recently increased in prevalence, whereas the prevalence of TB anal fistula is decreasing but is still persistent. We recommend that clinicians should prepare for a possibility of TB as well as CD anal fistula in TB-endemic countries including Korea. Copyright © 2015 European Crohn’s and Colitis Organisation (ECCO). Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.

[The endoscopic and clinical features of Indigo Naturalis-associated ischemic lesions of colonic mucosa].

PubMed

Suo, Bao-jun; Zhou, Li-ya; Ding, Shi-gang; Lü, Yu-min; Gu, Fang; Lin, San-ren; Zheng, Ya-an

2011-08-01

By analysing the clinical features of Indigo Naturalis-associated ischemic lesion of colon mucosa to improve the precautionary and therapeutic level of the disease. Thirteen patients diagnosed as Indigo Naturalis-associated ischemic lesion of colon mucosa in Peking University Third Hospital from 2005 to 2010 were reviewed. The endoscopic and clinical features were analysed. The 13 patients with an average age of (60.6 ± 14.1) years old were prescribed Chinese traditional medicine containing Indigo Naturalis for psoriasis or idiopathic thrombocytopenic purpura (ITP). The ratio of males to females was 1:1.6. The typical manifestations were abdominal pain and bloody stool with watering diarrhea before bloody stool in 61.5% patients. Endoscopic and pathological characteristics were coincident with ischemic lesion and more like a chronic index. Vasodilatic medicine was effective and the average hemostatic time was (1.7 ± 0.8) days. The prognosis was well and no recurrence was found during 3 months follow-up. Patients having psoriasis or ITP treated with Chinese traditional medicine containing Indigo Naturalis have an inclination to colon mucosa lesions, even ischemic lesion. Careful assessment and observation before prescribing are necessary in these patients.

Clinical implications of antimitochondrial antibody seropositivity in autoimmune hepatitis: a multicentre study.

PubMed

Muratori, Paolo; Efe, Cumali; Muratori, Luigi; Ozaslan, Ersan; Schiano, Thomas; Yoshida, Eric M; Heurgué-Berlot, Alexandra; Lalanne, Claudine; Lenzi, Marco; Wahlin, Staffan

2017-07-01

Antimitochondrial antibody (AMA) positivity is the serological marker of primary biliary cholangitis (PBC), but can also be sporadically detected in autoimmune hepatitis (AIH). Little is known about the clinical significance of AMA in AIH. We recruited 47 AMA-positive AIH cases from several centres and compared them with 264 well-characterized Italian AIH patients. Cases with any features of PBC were excluded. In univariate analysis, AMA-positive AIH patients were older (46 vs. 36, P=0.002) and more responsive to immunosuppression (74 vs. 59%, P=0.05), but no differences were observed between the two groups after logistic regression using AMA as a dependent variable. None of the AMA-positive AIH patients showed signs of evolving PBC features after a median follow-up of up 47 months. AMA was detected in combination with all serological AIH markers except antiliver kidney microsome type 1 and antiliver cytosol type 1. AMA was the only marker of autoimmunity in eight cases. We found no differences between AIH with and without AMA. The groups had similar clinical, biochemical and histological features. AMA-positive AIH patients did not evolve towards PBC. In some cases, AMA was the only autoantibody.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ion, A.; Telvi, L.; Galacteros, F.

We describe a pedigree presenting X-linked severe mental retardation associated with multiple congenital abnormalities and 46,XY gonadal dysgenesis, leading in one family member to female gender assignment. Female carriers are unaffected. The dysmorphic features are similar to those described in the {alpha}-thalassemia and mental retardation (ATR-X) syndrome, although there is no clinical evidence of {alpha}-thalassemia in this family. In addition, the family had other clinical features not previously observed in the ATR-X syndrome, including partial optic-nerve atrophy and partial ocular albinism. Mutations in a putative DNA helicase, termed XH2, have been reported to give rise to the ATR-X syndrome. Wemore » screened the YCH2 gene for mutations in affected members of the family and identified a 4-bp deletion at an intron/exon boundary that removes an invariant 3{prime} splice-acceptor site. The mutation cosegregates with the syndrome. The genomic deletion causes missplicing of the pre-mRNA, which results in the loss of 8 bp of coding sequence, thereby generating a frameshift and a downstream premature stop codon. Our finding increases the range of clinical features associated with mutations in the XH2 gene. 17 refs., 4 figs., 2 tabs.« less

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

PubMed

de Vries, Tamar I; Monroe, Glen R; van Belzen, Martine J; van der Lans, Christian A; Savelberg, Sanne Mc; Newman, William G; van Haaften, Gijs; Nievelstein, Rutger A; van Haelst, Mieke M

2016-08-01

Rubinstein-Taybi syndrome (RTS, OMIM 180849) and Filippi syndrome (FLPIS, OMIM 272440) are both rare syndromes, with multiple congenital anomalies and intellectual deficit (MCA/ID). We present a patient with intellectual deficit, short stature, bilateral syndactyly of hands and feet, broad thumbs, ocular abnormalities, and dysmorphic facial features. These clinical features suggest both RTS and FLPIS. Initial DNA analysis of DNA isolated from blood did not identify variants to confirm either of these syndrome diagnoses. Whole-exome sequencing identified a homozygous variant in C9orf173, which was novel at the time of analysis. Further Sanger sequencing analysis of FLPIS cases tested negative for CKAP2L variants did not, however, reveal any further variants. Subsequent analysis using DNA isolated from buccal mucosa revealed a mosaic variant in CREBBP. This report highlights the importance of excluding mosaic variants in patients with a strong but atypical clinical presentation of a MCA/ID syndrome if no disease-causing variants can be detected in DNA isolated from blood samples. As the striking syndactyly observed in the present case is typical for FLPIS, we suggest CREBBP analysis in saliva samples for FLPIS syndrome cases in which no causal CKAP2L variant is detected.

Clinical and subclinical leaks after low colorectal anastomosis: a clinical and radiologic study.

PubMed

Lim, Michael; Akhtar, Saleem; Sasapu, Kishore; Harris, Keith; Burke, Dermot; Sagar, Peter; Finan, Paul

2006-10-01

This study was designed to examine the natural history of subclinical leaks and their effect on bowel function and quality of life and to evaluate water-soluble contrast enema features that predict anastomotic healing after leaks. Consecutive patients who underwent low rectal anastomosis were followed up postoperatively for leaks. All leaks were confirmed radiologically with CT scanning and water-soluble contrast enema imaging. Water-soluble contrast enemas were serially repeated to identify healing. Characteristics on initial water-soluble contrast enema were correlated with observed healing. Postoperatively, patients were required to fill in a quality of life and a bowel function questionnaire. A total of 138 patients underwent low rectal anastomosis procedures with a median follow-up period of 26 (interquartile range, 19-37) months. There were 23 documented leaks of which 13 (9 percent) presented clinically and 10 (8 percent) presented subclinically. Ileostomy closure was possible in 4 of 13 (30 percent) patients with a clinical leak and all 10 (100 percent) patients with a subclinical leak. Median quality of life scores were lower for patients with clinical leaks and no ileostomy closure (P = 0.03). Bowel function for subclinical leak patients and clinical leak patients with ileostomy closure were similarly impaired. The presence of a cavity (P = 0.01) and a stricture (P = 0.01) at the anastomotic site were unfavorable radiologic features associated with nonhealing. Subclinical leaks are more benign in their natural history compared with clinical leaks. Quality of life and bowel function is no better in patients with a subclinical leak compared with patients with a clinical leak who have ileostomy closure. Anastomotic leaks may resolve if favorable radiologic features are present.

The molecular mechanisms on glomangiopericytoma invasion

PubMed Central

2013-01-01

Purpose To observed the imaging and pathological features of the glomangiopericytoma. Experimental design In this paper we report a typical case of glomangiopericytoma arising in the skull base area and summarize the clinical manifestations, imaging and pathological features of such diseases. Results Immunohistochemical staining confirmed the tumor cells were strongly positive to Vim, SMA, MSA and negative to CD31, CD34. Partial cells were positive to FVIII. The imaging can’t confirm the diagnosis but indicate the the tumor has intact envelope.The cells in the tumor envelope is positive to Vim and negative SMA and FVIII. These findings were compatible with glomangiopericytoma and the cells in the tumor envelope is not glomangiopericytoma cells. Conclusion In view of the clinical and pathological features of the glomangiopericytoma, we believe that the surgery is the best treatment so far and the tumor can be resected completely. The above results can be preliminary reason to explain the low recurrence of such diseases. PMID:24074285

Action observation as a tool for neurorehabilitation to moderate motor deficits and aphasia following stroke

PubMed Central

Ertelt, Denis; Binkofski, Ferdinand

2012-01-01

The mirror neuron system consists of a set of brain areas capable of matching action observation with action execution. One core feature of the mirror neuron system is the activation of motor areas by action observation alone. This unique capacity of the mirror neuron system to match action perception and action execution stimulated the idea that mirror neuron system plays a crucial role in the understanding of the content of observed actions and may participate in procedural learning. These features bear a high potential for neurorehabilitation of motor deficits and of aphasia following stroke. Since the first articles exploring this principle were published, a growing number of follow-up studies have been conducted in the last decade. Though, the combination of action observation with practice of the observed actions seems to constitute the most powerful approach. In the present review, we present the existing studies analyzing the effects of this neurorehabilitative approach in clinical settings especially in the rehabilitation of stroke associated motor deficits and give a perspective on the ongoing trials by our research group. The data obtained up to date showed significant positive effect of action observation on recovery of motor functions of the upper limbs even in the chronic state after stroke, indicating that our approach might become a new standardized add-on feature of modern neurorehabilitative treatment schemes. PMID:25624838

Leiomyomatous hamartoma of the incisive papilla.

PubMed

Corrêa, L; Lotufo, M; Martins, M T; Sugaya, N; de Sousa, S C

2001-01-01

A case of unusual hamartoma in a six-year-old otherwise healthy Brazilian girl is reported, with emphasis on histological and immunohistochemical features. A mass observed in the incisive papilla was detected whose appearance was similar to congenital epulis or fibroma. Histological findings showed interlacing fascicles of large spindle cells resembling smooth muscle cells. Immunohistochemical staining for desmin and for smooth-muscle actin was positive. The histological diagnosis was leiomyomatous hamartoma, based on clinical and microscopic observations.

Cataract formation associated with ocular toxocariasis.

PubMed

Ahn, Seong Joon; Woo, Se Joon; Hyon, Joon Young; Park, Kyu Hyung

2013-06-01

To report the clinical features of cataracts in eyes with ocular toxocariasis. Department of Ophthalmology, Seoul National University Bundang Hosptal, Seongnam, South Korea. Retrospective observational case series. The clinical diagnosis of ocular toxocariasis was based on the following characteristic features: retinal granuloma with or without ocular inflammation and positive results in serum antibody enzyme-linked immunosorbent assay. Patients younger than 60 years who presented with a unilateral cataract and were diagnosed with ocular toxocariasis between January 2009 and January 2012 were included. Demographic and ocular examination data for all patients showing atypical cataract features were collected. All cataracts were documented with anterior segment photography. Seven of 83 patients (8.4%) presented with an atypical cataract in the eye with ocular toxocariasis only. The mean patient age was 49.7 years ± 8.3 (SD) (range 38 to 59 years). All patients had small, round, white lens opacities resembling retinal granulomas. The granuloma-like opacities were located primarily in the lens midperiphery and in the subcapsular level. The lens opacity migrated in 1 patient. Ocular toxocariasis can cause a cataract with distinctive clinical features. These cataracts show a granuloma-like opacity primarily in the posterior subcapsular level; the opacity can migrate. No author has a financial or proprietary interest in any material or method mentioned. Copyright © 2013 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

Histological features of localized scleroderma 'en coup de sabre': a study of 16 cases.

PubMed

Taniguchi, T; Asano, Y; Tamaki, Z; Akamata, K; Aozasa, N; Noda, S; Takahashi, T; Ichimura, Y; Toyama, T; Sugita, M; Sumida, H; Kuwano, Y; Miyazaki, M; Yanaba, K; Sato, S

2014-12-01

Early lesions of localized scleroderma are histologically characterized by perivascular lymphocytic infiltrate in the reticular dermis and swollen endothelial cells. However, there have been few information regarding histological features other than these findings in localized scleroderma. Since en coup de sabre (ECDS) is a certain subset of localized scleroderma with a relatively uniform clinical manifestation, we focused on this disease subset and evaluated its histopathological features. A total of 16 patients with ECDS were retrospectively evaluated on the basis of clinical and histological findings. Regardless of clinical manifestations, vacuolar degeneration was found in all of the ECDS patients. Importantly, keratinocyte necroses were restricted to early and active ECDS lesions. In early ECDS patients (disease duration of <3 years), moderate to severe perivascular and/or periappendageal lymphocytic infiltrate and vacuolar changes in follicular epithelium were more prominent, whereas epidermal atrophy was less frequently observed, than in late ECDS patients (disease duration of ≥6 years). Vacuolar degeneration at the dermoepidermal junction is a common histological feature in ECDS and perivascular and/or periappendageal lymphocytic infiltrate and vacuolar degeneration of follicular epithelium are characteristic especially in early ECDS, further supporting a canonical idea that the elimination of mutated epidermal cells by immune surveillance contributes to tissue damage and resultant fibrosis in localized scleroderma. © 2013 European Academy of Dermatology and Venereology.

Electroconvulsive therapy in treatment-resistant schizophrenia: prediction of response and the nature of symptomatic improvement.

PubMed

Chanpattana, Worrawat; Sackeim, Harold A

2010-12-01

The clinical features of patients with schizophrenia who respond to electroconvulsive therapy (ECT) are uncertain. There is a longstanding belief that the duration of illness and/or the presence of affective symptoms associate with good prognosis. There is also little information on the nature of symptomatic improvement with this treatment. We examined the demographic and clinical history features associated with response, the symptom profile predictive of response, and the profile of symptomatic improvement. Using a standardized protocol, 253 patients with treatment-resistant schizophrenia were prospectively treated with a combination of ECT and flupenthixol. Of this group, 138 patients (54.5%) met the response criteria. Independence of sex, longer duration of current episode, and greater severity of baseline negative symptoms were predictive of poorer outcome. Duration of illness had weak relations with outcome only among females. There were marked sex differences in other clinical features and symptoms associated with response. In contrast, no sex differences were observed in the nature of symptomatic improvement. Treatment resulted in marked improvement in specific positive symptoms, with an intermediate effect on affective symptoms and no effect or worsening of specific negative symptoms. The findings challenge recommendations that long duration of illness or absence of affective symptoms portends poor response to ECT in patients with treatment-resistant schizophrenia. Sex may play a critical role in determining the features of the illness that predict outcome.

A scanning acoustic microscope discriminates cancer cells in fluid

NASA Astrophysics Data System (ADS)

Miura, Katsutoshi; Yamamoto, Seiji

2015-10-01

Scanning acoustic microscopy (SAM) discriminates lesions in sections by assessing the speed of sound (SOS) or attenuation of sound (AOS) through tissues within a few minutes without staining; however, its clinical use in cytological diagnosis is unknown. We applied a thin layer preparation method to observe benign and malignant effusions using SAM. Although SAM is inferior in detecting nuclear features than light microscopy, it can differentiate malignant from benign cells using the higher SOS and AOS values and large irregular cell clusters that are typical features of carcinomas. Moreover, each single malignant cell exhibits characteristic cytoplasmic features such as a large size, irregular borders and secretory or cytoskeletal content. By adjusting the observation range, malignant cells are differentiated from benign cells easily using SAM. Subtle changes in the functional and structural heterogeneity of tumour cells were pursuable with a different digital data of SAM. SAM can be a useful tool for screening malignant cells in effusions before light microscopic observation. Higher AOS values in malignant cells compared with those of benign cells support the feasibility of a novel sonodynamic therapy for malignant effusions.

Pediatric Eosinophilic Esophagitis Symptom Scores (PEESS® v2.0) identify histologic and molecular correlates of the key clinical features of disease

PubMed Central

Martin, Lisa J.; Franciosi, James P.; Collins, Margaret H.; Abonia, J. Pablo; Lee, James J.; Hommel, Kevin A.; Varni, James W.; Grotjan, J. Tommie; Eby, Michael; He, Hua; Marsolo, Keith; Putnam, Philip E.; Garza, Jose M.; Kaul, Ajay; Wen, Ting; Rothenberg, Marc E.

2015-01-01

Background The Pediatric Eosinophilic Esophagitis Symptom Score (PEESS® v2.0) measures patient-relevant outcomes. However, whether patient-identified domains (dysphagia, gastrointestinal reflux disease (GERD), nausea/vomiting, and pain) align with clinical symptomology and histopathologic and molecular features of eosinophilic esophagitis (EoE) is unclear. Objective The purpose of this study was to determine if clinical features of EoE, measured through the PEESS® v2.0, associate with histopathologic and molecular features of EoE. This represents a novel approach for analysis of allergic diseases, given the availability of allergic tissue biopsy specimens. Methods We systematically recruited treated and untreated, pediatric patients with EoE (aged 2–18 years) and examined parent proxy–reported symptoms using the PEESS® v2.0. Clinical symptomology was collected by questionnaire. Esophageal biopsy samples were quantified for levels of eosinophils, eosinophil peroxidase (EPX) immunohistochemical staining, and mast cells. Molecular features were assessed by the EoE Diagnostic Panel (94 EoE-related gene transcripts). Associations between domain scores and clinical symptoms and biologic features were analyzed using Wilcoxon Rank Sum and Spearman correlation. Results The PEESS® v2.0 domains correlated to specific parent-reported symptoms: dysphagia (p = 0.0012), GERD (p = 0.0001), and nausea/vomiting (p < 0.0001). Pain correlated with multiple symptoms (p < 0.0005). Dysphagia correlated most strongly with overall histopathology, particularly in the proximal esophagus (p ≤ 0.0049). Markers of esophageal activity (EPX) were significantly associated with dysphagia (strongest r = .37; p = 0.02). Eosinophil levels were more associated with pain (r = 0.27; p=0.06) than for dysphagia (r = 0.24; p = 0.13). The dysphagia domain correlated the most with esophageal gene transcript levels, predominantly with mast cell–specific genes. Conclusion We have 1) established a validated, parent proxy–report measure for pediatric EoE — the PEESS® v2.0; 2) verified that parent-proxy effectively captures symptoms; 3) determined that the dysphagia domain most closely aligns with symptoms and tissue-based molecular biomarkers; 4) established that symptoms correlate EPX staining; and 5) observed association between mast cells and dysphagia. PMID:26051952

Differential clinicopathological features in microsatellite instability-positive colorectal cancers depending on CIMP status.

PubMed

Bae, Jeong Mo; Kim, Mi Jung; Kim, Jung Ho; Koh, Jae Moon; Cho, Nam-Yun; Kim, Tae-You; Kang, Gyeong Hoon

2011-07-01

Microsatellite instability-positive (MSI+) colorectal cancers (CRCs) are divided into CpG island methylator phenotype-positive (CIMP+) and CpG island methylator phenotype-negative (CIMP-) tumors. The repertoire of inactivated genes in CIMP+/MSI+ CRCs overlaps with but is likely to differ from that of CIMP-/MSI+ CRCs. Because epigenotypic differences are likely to be manifested as phenotypic differences, CIMP+/MSI+ CRCs are expected to differ from CIMP-/MSI+ CRCs in some clinicopathological features. This study aimed to characterize both common and different features between the two subtypes. A total of 72 MSI+ CRCs were analyzed for their methylation status in eight CIMP panel markers using MethyLight assay. CIMP+/MSI+ and CIMP-/MSI+ CRCs were compared regarding clinicopathologic features and mutation in KRAS/BRAF. An independent set of MSI+ CRCs (n = 97) was analyzed for their relationship of CIMP+ status with clinical outcome. Eighteen cases (25%) were CIMP+, and this CIMP+ subtype was highly correlated with older age (P < 0.001). Polypoid gross appearance without ulceration was observed only in CIMP-/MSI+ CRCs (18.5%, P = 0.057). CIMP+/MSI+ CRCs were closely associated with poor differentiation, medullary appearance, signet ring cell appearance, and acinar-form appearance, whereas the CIMP-/MSI+ subtype was closely associated with intraglandular eosinophilic mucin and stratified nuclei (all P values <0.05). Patients with CIMP+/MSI+ CRCs showed worse overall survival than patients with CIMP-/MSI+ CRCs. Our results demonstrate heterogeneity in the clinicopathological features of MSI+ CRCs depending on CIMP status. The observation that CIMP+ and CIMP- subtypes showed different clinical behaviors may provide a clue for establishing subtype-specific therapeutic strategies for these two subtypes.

Revisiting the concept of late catatonia.

PubMed

Kocha, Hiroki; Moriguchi, Sho; Mimura, Masaru

2014-10-01

The objective of this paper is to introduce the concept of late catatonia to foreign readers for the first time in English. The original study was conducted about 20 years ago. The subjects were 16 persons who first visited our institutions between 1990 and 1996. They fulfilled the following criteria: 1) late-onset psychosis, with the initial mental changes occurring after 40 years of age; 2) more than one catatonic symptom observed during the clinical course; 3) a total clinical course lasting more than 2 years; and 4) no evidence of apparent organic brain disease. The medical records of individual patients were retrospectively reviewed to summarize the clinical features of this diagnosis. The crucial feature was the evolution or longitudinal change in the clinical picture over time, with the clinical course being divided into five stages: stage I (prodromal depression), stage II (anxiety and agitation), stage III (hallucination and delusion), stage IV (catatonia syndrome), and residual state. As for treatment, the effect of psychotropic agents was very limited. The electroconvulsive treatment was the most effective treatment option. Apart from the current diagnostic dichotomy of schizophrenia and mood disorder, the concept of late catatonia is useful in clinical settings and may provide clinically important knowledge. Copyright © 2014 Elsevier Inc. All rights reserved.

Recognition of Delirium Features in Clinical Practice: Data from the "Delirium Day 2015" National Survey.

PubMed

Mossello, Enrico; Tesi, Francesca; Di Santo, Simona G; Mazzone, Andrea; Torrini, Monica; Cherubini, Antonio; Bo, Mario; Musicco, Massimo; Bianchetti, Angelo; Ferrari, Alberto; Ferrara, Nicola; Trabucchi, Marco; Morandi, Alessandro; Bellelli, Giuseppe

2018-02-01

Delirium is underrecognized in clinical practice. The primary aim of the present multicenter study was to compare the ability of nurses to identify delirium features with a standardized assessment. The secondary aim was to identify predictors of missed or incorrect identifications of delirium by nurses. Point prevalence study in 120 wards across Italy. "Delirium Day 2015." Inpatients aged 65 and older (N = 1,867). Participants and nurses were asked specific questions to investigate their perceptions of the presence of delirium features (acute cognitive change, inattention, cognitive fluctuations, impaired arousal). Delirium was identified according to the results of the Assessment Test for Delirium and Cognitive Impairment (4AT), completed by a physician. Comorbidities including dementia, disability, drug treatments, and delirium motor subtype according to the Delirium Motor Subtype Scale were recorded. Delirium was present in 429 subjects (23%) according to the 4AT. Cognitive fluctuations was the delirium feature that the nurses most often recognized. Nurses' perceptions of acute cognitive change, cognitive fluctuations, or impaired arousal had 84% sensitivity and 81% specificity for delirium. The nonmotor subtype of delirium was less likely to be recognized (80%) than the hyperactive (97%), mixed (92%), and hypoactive (90%) subtypes. Incorrect perception of delirium was more frequent in subjects with dementia (specificity 64%). The delirium feature that nurses were best able to recognize was cognitive fluctuations. The nonmotor subtype was associated with a lower recognition rate. Routine observation and registration of delirium features by nurses in clinical practice might be helpful to increase formal diagnosis of delirium. © 2017, Copyright the Authors Journal compilation © 2017, The American Geriatrics Society.

Supervised learning methods for pathological arterial pulse wave differentiation: A SVM and neural networks approach.

PubMed

Paiva, Joana S; Cardoso, João; Pereira, Tânia

2018-01-01

The main goal of this study was to develop an automatic method based on supervised learning methods, able to distinguish healthy from pathologic arterial pulse wave (APW), and those two from noisy waveforms (non-relevant segments of the signal), from the data acquired during a clinical examination with a novel optical system. The APW dataset analysed was composed by signals acquired in a clinical environment from a total of 213 subjects, including healthy volunteers and non-healthy patients. The signals were parameterised by means of 39pulse features: morphologic, time domain statistics, cross-correlation features, wavelet features. Multiclass Support Vector Machine Recursive Feature Elimination (SVM RFE) method was used to select the most relevant features. A comparative study was performed in order to evaluate the performance of the two classifiers: Support Vector Machine (SVM) and Artificial Neural Network (ANN). SVM achieved a statistically significant better performance for this problem with an average accuracy of 0.9917±0.0024 and a F-Measure of 0.9925±0.0019, in comparison with ANN, which reached the values of 0.9847±0.0032 and 0.9852±0.0031 for Accuracy and F-Measure, respectively. A significant difference was observed between the performances obtained with SVM classifier using a different number of features from the original set available. The comparison between SVM and NN allowed reassert the higher performance of SVM. The results obtained in this study showed the potential of the proposed method to differentiate those three important signal outcomes (healthy, pathologic and noise) and to reduce bias associated with clinical diagnosis of cardiovascular disease using APW. Copyright © 2017 Elsevier B.V. All rights reserved.

NREM Arousal Parasomnias and Their Distinction from Nocturnal Frontal Lobe Epilepsy: A Video EEG Analysis

PubMed Central

Derry, Christopher P.; Harvey, A. Simon; Walker, Matthew C.; Duncan, John S.; Berkovic, Samuel F.

2009-01-01

Study Objectives. To describe the semiological features of NREM arousal parasomnias in detail and identify features that can be used to reliably distinguish parasomnias from nocturnal frontal lobe epilepsy (NFLE). Design. Systematic semiologial evaluation of parasomnias and NFLE seizures recorded on video-EEG monitoring. Patients. 120 events (57 parasomnias, 63 NFLE seizures) from 44 subjects (14 males). Interventions. The presence or absence of 68 elemental clinical features was determined in parasomnias and NFLE seizures. Qualitative analysis of behavior patterns and ictal EEG was undertaken. Statistical analysis was undertaken using established techniques. Results. Elemental clinical features strongly favoring parasomnias included: interactive behavior, failure to wake after event, and indistinct offset (all P < 0.001). Cluster analysis confirmed differences in both the frequency and combination of elemental features in parasomnias and NFLE. A diagnostic decision tree generated from these data correctly classified 94% of events. While sleep stage at onset was discriminatory (82% of seizures occurred during stage 1 or 2 sleep, with 100% of parasomnias occurring from stage 3 or 4 sleep), ictal EEG features were less useful. Video analysis of parasomnias identified three principal behavioral patterns: arousal behavior (92% of events); non-agitated motor behavior (72%); distressed emotional behavior (51%). Conclusions Our results broadly support the concept of confusion arousals, somnambulism and night terrors as prototypical behavior patterns of NREM parasomnias, but as a hierarchical continuum rather than distinct entities. Our observations provide an evidence base to assist in the clinical diagnosis of NREM parasomnias, and their distinction from NFLE seizures, on semiological grounds. Citation: Derry CP; Harvey AS; Walker MC; Duncan JS; Berkovic SF. NREM arousal parasomnias and their distinction from nocturnal frontal lobe epilepsy: a video EEG analysis. SLEEP 2009;32(12):1637-1644. PMID:20041600

Detrended fluctuation analysis for major depressive disorder.

PubMed

Mumtaz, Wajid; Malik, Aamir Saeed; Ali, Syed Saad Azhar; Yasin, Mohd Azhar Mohd; Amin, Hafeezullah

2015-01-01

Clinical utility of Electroencephalography (EEG) based diagnostic studies is less clear for major depressive disorder (MDD). In this paper, a novel machine learning (ML) scheme was presented to discriminate the MDD patients and healthy controls. The proposed method inherently involved feature extraction, selection, classification and validation. The EEG data acquisition involved eyes closed (EC) and eyes open (EO) conditions. At feature extraction stage, the de-trended fluctuation analysis (DFA) was performed, based on the EEG data, to achieve scaling exponents. The DFA was performed to analyzes the presence or absence of long-range temporal correlations (LRTC) in the recorded EEG data. The scaling exponents were used as input features to our proposed system. At feature selection stage, 3 different techniques were used for comparison purposes. Logistic regression (LR) classifier was employed. The method was validated by a 10-fold cross-validation. As results, we have observed that the effect of 3 different reference montages on the computed features. The proposed method employed 3 different types of feature selection techniques for comparison purposes as well. The results show that the DFA analysis performed better in LE data compared with the IR and AR data. In addition, during Wilcoxon ranking, the AR performed better than LE and IR. Based on the results, it was concluded that the DFA provided useful information to discriminate the MDD patients and with further validation can be employed in clinics for diagnosis of MDD.

[Rheumatic features of Grave's disease in children].

PubMed

Chávez-Legaspi, M; Ocampo-Campos, R; García-Velarde, E; Ríos-González, J

1992-01-01

We report three cases from girls with Graves disease who developed serious rheumatic manifestations. One patient had systemic lupus erythematosus with articular, renal, neurological and cardiac afectation with fatal outcome. Other patient presented clinical features of scleroderma with skin thickness, myopathy, arthritis, Raynaud's phenomenon and findings of pulmonary fibrosis. A lupus-like syndrome associated to methimazole therapy (polyarthritis, rash and hemolytic anemia) with positive Cel-LE preparations but negative antinuclear-antibodies was observed in a third patient. A careful history and the recognition of these manifestations will help in the identification of these syndromes.

Uncommon and/or bizarre features of dementia: Part III.

PubMed

Cipriani, Gabriele; Nuti, Angelo; Danti, Sabrina; Picchi, Lucia; Di Fiorino, Mario

2018-06-01

Clinical neurologists have long recognized that dementia can present as atypical or variant syndromes/symptoms. This study aimed at describing uncommon or bizarre symptoms/syndromes observed in patients suffering from dementia. Medline and Google scholar searches were conducted for relevant articles, chapters, and books published before 2018. Search terms used included compulsion, dementia, extracampine hallucination, disordered gambling, humour, and obsession. Publications found through this indexed search were reviewed for further relevant references. The uncommon/bizarre feature of dementia was described as case reports and there were no systematic investigations.

Clinical Features and Extraintestinal Manifestations of Crohn Disease in Children

PubMed Central

Lee, Young Ah; Chun, Peter; Hwang, Eun Ha; Mun, Sang Wook; Lee, Yeoun Joo

2016-01-01

Purpose The aim of this study was to investigate the clinical features and extraintestinal manifestations (EIMs) of Crohn disease (CD) in Korean pediatric patients. Methods The medical records of 73 children diagnosed with CD were retrospectively reviewed. Data regarding baseline demographic and clinical characteristics, including CD phenotype at diagnosis based on the Montreal classification, and clinical features and course of EIMs were investigated. Results Fifty-two (71.2%) of the patients were males. The mean age of the patients was 12.5 years. The mean follow-up period was 3.4 years. The disease location was ileal in 3 (4.1%) of the patients, colonic in 13 (17.8%), ileocolonic in 56 (76.7%). The clinical behavior was inflammatory in 62 (84.9%) of the patients, stricturing in 8 (11.0%), and penetrating in 3 (4.1%). Perianal abscesses or fistulas were found in 37 (50.7%) of the patients. EIMs observed during the study period were anal skin tag in 25 patients (34.2%), hypertransaminasemia in 20 (27.4%), peripheral arthritis in 2 (2.7%), erythema nodosum in 2 (2.7%), vulvitis in 1 (1.4%), uveitis in 1 (1.4%), and pulmonary thromboembolism in 1 (1.4%). Conclusion Perianal diseases and manifestations were present in more than half of Korean pediatric CD patients at diagnosis. Inspection of the anus should be mandatory in Korean children with suspicious CD, as perianal fistulas, abscesses, and anal skin tags may be the first clue to the diagnosis of CD. PMID:28090468

Which ante mortem clinical features predict progressive supranuclear palsy pathology?

PubMed

Respondek, Gesine; Kurz, Carolin; Arzberger, Thomas; Compta, Yaroslau; Englund, Elisabet; Ferguson, Leslie W; Gelpi, Ellen; Giese, Armin; Irwin, David J; Meissner, Wassilios G; Nilsson, Christer; Pantelyat, Alexander; Rajput, Alex; van Swieten, John C; Troakes, Claire; Josephs, Keith A; Lang, Anthony E; Mollenhauer, Brit; Müller, Ulrich; Whitwell, Jennifer L; Antonini, Angelo; Bhatia, Kailash P; Bordelon, Yvette; Corvol, Jean-Christophe; Colosimo, Carlo; Dodel, Richard; Grossman, Murray; Kassubek, Jan; Krismer, Florian; Levin, Johannes; Lorenzl, Stefan; Morris, Huw; Nestor, Peter; Oertel, Wolfgang H; Rabinovici, Gil D; Rowe, James B; van Eimeren, Thilo; Wenning, Gregor K; Boxer, Adam; Golbe, Lawrence I; Litvan, Irene; Stamelou, Maria; Höglinger, Günter U

2017-07-01

Progressive supranuclear palsy (PSP) is a neuropathologically defined disease presenting with a broad spectrum of clinical phenotypes. To identify clinical features and investigations that predict or exclude PSP pathology during life, aiming at an optimization of the clinical diagnostic criteria for PSP. We performed a systematic review of the literature published since 1996 to identify clinical features and investigations that may predict or exclude PSP pathology. We then extracted standardized data from clinical charts of patients with pathologically diagnosed PSP and relevant disease controls and calculated the sensitivity, specificity, and positive predictive value of key clinical features for PSP in this cohort. Of 4166 articles identified by the database inquiry, 269 met predefined standards. The literature review identified clinical features predictive of PSP, including features of the following 4 functional domains: ocular motor dysfunction, postural instability, akinesia, and cognitive dysfunction. No biomarker or genetic feature was found reliably validated to predict definite PSP. High-quality original natural history data were available from 206 patients with pathologically diagnosed PSP and from 231 pathologically diagnosed disease controls (54 corticobasal degeneration, 51 multiple system atrophy with predominant parkinsonism, 53 Parkinson's disease, 73 behavioral variant frontotemporal dementia). We identified clinical features that predicted PSP pathology, including phenotypes other than Richardson's syndrome, with varying sensitivity and specificity. Our results highlight the clinical variability of PSP and the high prevalence of phenotypes other than Richardson's syndrome. The features of variant phenotypes with high specificity and sensitivity should serve to optimize clinical diagnosis of PSP. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

Obsessive-compulsive personality disorder and behavioral disinhibition.

PubMed

Villemarette-Pittman, Nicole R; Stanford, Matthew S; Greve, Kevin W; Houston, Rebecca J; Mathias, Charles W

2004-01-01

Although obsessive-compulsive personality disorder (OCPD) is an Axis II diagnosis that is not commonly associated with behavioral disinhibition, the literature contains reports of occasional explosive aggressive outbursts. Existing explanations of OCPD etiology do not address the coexistence of compulsive and impulsive features witnessed in some subpopulations of patients. In this study, the authors present a compensatory theory of OCPD in an effort to explain clinical observations of an unexpectedly large number of OCPD diagnoses among patients clinic referred and self-referred for aggression problems.

Myoinositol combined with alpha-lipoic acid may improve the clinical and endocrine features of polycystic ovary syndrome through an insulin-independent action.

PubMed

De Cicco, Simona; Immediata, Valentina; Romualdi, Daniela; Policola, Caterina; Tropea, Anna; Di Florio, Christian; Tagliaferri, Valeria; Scarinci, Elisa; Della Casa, Silvia; Lanzone, Antonio; Apa, Rosanna

2017-09-01

The aim of our study was to investigate the effects of a combined treatment with alpha-lipoic acid (ALA) and myoinositol (MYO) on clinical, endocrine and metabolic features of women affected by polycystic ovary syndrome (PCOS). In this pilot cohort study, forty women with PCOS were enrolled and clinical, hormonal and metabolic parameters were evaluated before and after a six-months combined treatment with ALA and MYO daily. Studied patients experienced a significant increase in the number of cycles in six months (p < 0.01). The free androgen index (FAI), the mean androstenedione and DHEAS levels significantly decreased after treatment (p < 0.05). Mean SHBG levels significantly raised (p < 0.01). A significant improvement in mean Ferriman-Gallwey (F-G) score (p < 0.01) and a significant reduction of BMI (p < 0.01) were also observed. A significant reduction of AMH levels, ovarian volume and total antral follicular count were observed in our studied women (p< 0.05). No significant changes occurred in gluco-insulinaemic and lipid parameters after treatment. The combined treatment of ALA and MYO is able to restore the menstrual pattern and to improve the hormonal milieu of PCOS women, even in the absence of apparent changes in insulin metabolism.

Donor cell-derived leukemia after cord blood transplantation and a review of the literature: differences between cord blood and BM as the transplant source.

PubMed

Shiozaki, H; Yoshinaga, K; Kondo, T; Imai, Y; Shiseki, M; Mori, N; Teramura, M; Motoji, T

2014-01-01

Donor cell-derived leukemia (DCL) is a rare complication of SCT. Here, we present a case of DCL following cord blood transplantation (CBT) and review the clinical features of previously reported DCL. To our knowledge, this is the first report comparing clinical characteristics of DCL from the standpoint of the transplant source, with umbilical cord blood and BM. AML and myelodysplastic syndrome (MDS) were recognized more frequently in DCL after CBT, whereas the incidence of AML and ALL was similar after BMT. The median duration between the occurrence of DCL following CBT and BMT was 14.5 and 36 months, respectively. DCL occurred in a significantly shorter period after CBT than after BMT. Abnormal karyotypes involving chromosome 7 were observed in 52.4% of CBT recipients and 17.3% of BMT recipients; this was a statistically significant difference. Particularly, the frequency of monosomy 7 was significantly higher in DCL after CBT than after BMT. The types of abnormal karyotypes in DCL following BMT were similar to those characteristically observed in adult de novo AML and MDS. DCL patients generally have a poor prognosis in both groups. SCT is the best treatment for curing DCL. DCL appears to have different clinical features according to the transplant source.

Primary and secondary patient data in contrast: the use of observational studies like RABBIT.

PubMed

Richter, Adrian; Meißner, Yvette; Strangfeld, Anja; Zink, Angela

2016-01-01

The study of secondary patient data, particularly represented by claims data, has increased in recent years. The strength of this approach involves easy access to data that have been generated for administrative purposes. By contrast, collection of primary data for research is time-consuming and may therefore appear outdated. Both administrative data and data collected prospectively in clinical care can address similar research questions concerning effectiveness and safety of treatments. Therefore, why should we invest the precious time of rheumatologists to generate primary patient data? This article will outline some features of primary patient data collection illustrated by the German biologics register RABBIT (Rheumatoid arthritis: observation of biologic therapy). RABBIT is a long-term observational cohort study that was initiated more than 15 years ago. We will discuss as quality indicators: (i) study design, (ii) type of documentation, standardisation of (iii) clinical and (iv) safety data, (v) monitoring of the longitudinal follow-up, (vi) losses to follow-up as well as (vii) the possibilities to link the data base. The impact of these features on interpretation and validity of results is illustrated using recent publications. We conclude that high quality and completeness of data prospectively-collected offers many advantages over large quantities of non-standardised data collected in an unsupervised manner. We expect the enthusiasm about the use of secondary patient data to decline with more awareness of their methodological limitations while studies with primary patient data like RABBIT will maintain and broaden their impact on daily clinical practice.

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents.

PubMed

Leigh, Margaret W; Ferkol, Thomas W; Davis, Stephanie D; Lee, Hye-Seung; Rosenfeld, Margaret; Dell, Sharon D; Sagel, Scott D; Milla, Carlos; Olivier, Kenneth N; Sullivan, Kelli M; Zariwala, Maimoona A; Pittman, Jessica E; Shapiro, Adam J; Carson, Johnny L; Krischer, Jeffrey; Hazucha, Milan J; Knowles, Michael R

2016-08-01

Primary ciliary dyskinesia (PCD), a genetically heterogeneous, recessive disorder of motile cilia, is associated with distinct clinical features. Diagnostic tests, including ultrastructural analysis of cilia, nasal nitric oxide measurements, and molecular testing for mutations in PCD genes, have inherent limitations. To define a statistically valid combination of systematically defined clinical features that strongly associates with PCD in children and adolescents. Investigators at seven North American sites in the Genetic Disorders of Mucociliary Clearance Consortium prospectively and systematically assessed individuals (aged 0-18 yr) referred due to high suspicion for PCD. The investigators defined specific clinical questions for the clinical report form based on expert opinion. Diagnostic testing was performed using standardized protocols and included nasal nitric oxide measurement, ciliary biopsy for ultrastructural analysis of cilia, and molecular genetic testing for PCD-associated genes. Final diagnoses were assigned as "definite PCD" (hallmark ultrastructural defects and/or two mutations in a PCD-associated gene), "probable/possible PCD" (no ultrastructural defect or genetic diagnosis, but compatible clinical features and nasal nitric oxide level in PCD range), and "other diagnosis or undefined." Criteria were developed to define early childhood clinical features on the basis of responses to multiple specific queries. Each defined feature was tested by logistic regression. Sensitivity and specificity analyses were conducted to define the most robust set of clinical features associated with PCD. From 534 participants 18 years of age and younger, 205 were identified as having "definite PCD" (including 164 with two mutations in a PCD-associated gene), 187 were categorized as "other diagnosis or undefined," and 142 were defined as having "probable/possible PCD." Participants with "definite PCD" were compared with the "other diagnosis or undefined" group. Four criteria-defined clinical features were statistically predictive of PCD: laterality defect; unexplained neonatal respiratory distress; early-onset, year-round nasal congestion; and early-onset, year-round wet cough (adjusted odds ratios of 7.7, 6.6, 3.4, and 3.1, respectively). The sensitivity and specificity based on the number of criteria-defined clinical features were four features, 0.21 and 0.99, respectively; three features, 0.50 and 0.96, respectively; and two features, 0.80 and 0.72, respectively. Systematically defined early clinical features could help identify children, including infants, likely to have PCD. Clinical trial registered with ClinicalTrials.gov (NCT00323167).

[Dipylidium caninum, a rare parasite in man].

PubMed

Brandstetter, W; Auer, H

1994-01-01

Dipylidium caninum, the dog tapeworm, is a common cosmopolitan parasite of dogs and cats. Infestations of man are observed only sporadically. We report the case of a 22 months-old child living in Upper Austria with dipylidiasis. The parasite is briefly outlined with respect to biology, epidemiology, clinical features, diagnosis, therapy and prevention.

Pearls and pitfalls in the horror cinema.

PubMed

Pascuzzi, R M

1998-01-01

Observations on the neurologic signs and symptoms of Count Dracula, Wolfman, and Frankenstein's Monster are presented as viewed by a specialist in neuromuscular disease. Key clinical features of these horror movie figures illustrate a variety of pearls in the diagnosis of a variety of neurologic disorders, including porphyria, lead poisoning, osteosclerotic myeloma, and myasthenia gravis.

Diprosopia/dicephalia in calves in northern Italy: clinical and aetio-pathological features.

PubMed

Biasibetti, E; D'Angelo, A; Bellino, C; Gay, L; Gianella, P; Capucchio, M T

2011-12-01

Cephalic parapagia, a rare congenital anomaly caused by the fusion of two monozygotic embryos, is characterized by a single body and a spectrum of duplication of craniofacial structures. The authors describe the clinical and pathological aspects of the parapagus conjoined twin defect in nine calves referred to the Department of Animal Pathology, Turin, between 1999 and 2009. The majority of the calves (eight cases) presented two snouts that shared three or four eyes (diprosopia); one calf presented two separate skulls fused at the foramen magnum (dicephalia). Bilateral inferior brachygnathia was observed in four calves. Post-mortem examination of the skull revealed complete brain duplication with fusion at the caudal portion of the brainstem in all calves. Histological features of the cerebral hemispheres and brainstem were normal; moderate disorganization of the cerebellar cortex was noted in two cases. Cardiac malformations were observed in three calves. No aetiologic cause was determined. This article underscores the importance of diprosopia in cattle species and suggests the need for more detailed investigations to better understand its pathogenesis. © 2011 Blackwell Verlag GmbH.

Multiscale Analysis of Independent Alzheimer's Cohorts Finds Disruption of Molecular, Genetic, and Clinical Networks by Human Herpesvirus.

PubMed

Readhead, Ben; Haure-Mirande, Jean-Vianney; Funk, Cory C; Richards, Matthew A; Shannon, Paul; Haroutunian, Vahram; Sano, Mary; Liang, Winnie S; Beckmann, Noam D; Price, Nathan D; Reiman, Eric M; Schadt, Eric E; Ehrlich, Michelle E; Gandy, Sam; Dudley, Joel T

2018-06-21

Investigators have long suspected that pathogenic microbes might contribute to the onset and progression of Alzheimer's disease (AD) although definitive evidence has not been presented. Whether such findings represent a causal contribution, or reflect opportunistic passengers of neurodegeneration, is also difficult to resolve. We constructed multiscale networks of the late-onset AD-associated virome, integrating genomic, transcriptomic, proteomic, and histopathological data across four brain regions from human post-mortem tissue. We observed increased human herpesvirus 6A (HHV-6A) and human herpesvirus 7 (HHV-7) from subjects with AD compared with controls. These results were replicated in two additional, independent and geographically dispersed cohorts. We observed regulatory relationships linking viral abundance and modulators of APP metabolism, including induction of APBB2, APPBP2, BIN1, BACE1, CLU, PICALM, and PSEN1 by HHV-6A. This study elucidates networks linking molecular, clinical, and neuropathological features with viral activity and is consistent with viral activity constituting a general feature of AD. Copyright © 2018 Elsevier Inc. All rights reserved.

Morphological evaluation of clefts of the lip, palate, or both in dogs.

PubMed

Peralta, Santiago; Fiani, Nadine; Kan-Rohrer, Kimi H; Verstraete, Frank J M

2017-08-01

OBJECTIVE To systematically characterize the morphology of cleft lip, cleft palate, and cleft lip and palate in dogs. ANIMALS 32 client-owned dogs with clefts of the lip (n = 5), palate (23), or both (4) that had undergone a CT or cone-beam CT scan of the head prior to any surgical procedures involving the oral cavity or face. PROCEDURES Dog signalment and skull type were recorded. The anatomic form of each defect was characterized by use of a widely used human oral-cleft classification system on the basis of CT findings and clinical images. Other defect morphological features, including shape, relative size, facial symmetry, and vomer involvement, were also recorded. RESULTS 9 anatomic forms of cleft were identified. Two anatomic forms were identified in the 23 dogs with cleft palate, in which differences in defect shape and size as well as vomer abnormalities were also evident. Seven anatomic forms were observed in 9 dogs with cleft lip or cleft lip and palate, and most of these dogs had incisive bone abnormalities and facial asymmetry. CONCLUSIONS AND CLINICAL RELEVANCE The morphological features of congenitally acquired cleft lip, cleft palate, and cleft lip and palate were complex and varied among dogs. The features identified here may be useful for surgical planning, developing of clinical coding schemes, or informing genetic, embryological, or clinical research into birth defects in dogs and other species.

Trends in Diagnosis and Clinical Features of Melanoma in situ in U.S. Men and Women: a prospective, observational study

PubMed Central

Wei, Erin X.; Qureshi, Abrar A.; Han, Jiali; Li, Tricia Y.; Cho, Eunyoung; Lin, Jennifer Y.; Li, Wen-Qing

2016-01-01

Background The incidence of melanoma in situ is rising, but little is known about its characteristics. Objective To determine trends in diagnosis and clinical features of melanoma in situ. Methods Incident cases of melanoma were collected prospectively from the Nurses’ Health Study from 1976–2010 and Health Professionals Follow-up Study from 1986–2010. Results MIS incidence increased from 2 to 42 per 100,000-person-year (100KPY) among women, and from 11 to 73 per 100KPY among men, exceeding the rate of increase of invasive melanomas. Melanoma mortality initially increased during the follow-up period then plateaued. Men were more likely than women to develop in situ melanomas on upper half of the body (p<0.001). Invasive melanomas were diagnosed at a younger age than melanoma in situ (p<0.001), and were more likely to be found on the lower extremities than in situ melanomas (p<0.001). Limitations This is a strictly descriptive study without examination into mechanisms. Conclusion We found epidemiologic and clinical differences in in situ and invasive melanomas, which support further examination into the variations in etiologic pathways. The lack of improvement in mortality despite increase in detection of in situ relative to invasive lesions further highlight the need to improve invasive melanoma-specific clinical screening features. PMID:27436155

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.

PubMed

Pereda, Arrate; Garin, Intza; Perez de Nanclares, Guiomar

2018-03-02

Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright's hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable. Indeed, some of them present with a complete phenotype, whereas others show only subtle manifestations. In addition, the features of the AHO phenotype are not specific to it and a similar phenotype is also commonly observed in other syndromes. Brachydactyly type E (BDE) is the most specific and objective feature of the AHO phenotype, and several genes have been associated with syndromic BDE in the past few years. Moreover, these syndromes have a skeletal and endocrinological phenotype that overlaps with AHO/PHP. In light of the above, we have developed an algorithm to aid in genetic testing of patients with clinical features of AHO but with no causative molecular defect at the GNAS locus. Starting with the feature of brachydactyly, this algorithm allows the differential diagnosis to be broadened and, with the addition of other clinical features, can guide genetic testing. We reviewed our series of patients (n = 23) with a clinical diagnosis of AHO and with brachydactyly type E or similar pattern, who were negative for GNAS anomalies, and classify them according to the diagnosis algorithm to finally propose and analyse the most probable gene(s) in each case. A review of the clinical data for our series of patients, and subsequent analysis of the candidate gene(s), allowed detection of the underlying molecular defect in 12 out of 23 patients: five patients harboured a mutation in PRKAR1A, one in PDE4D, four in TRPS1 and two in PTHLH. This study confirmed that the screening of other genes implicated in syndromes with BDE and AHO or a similar phenotype is very helpful for establishing a correct genetic diagnosis for those patients who have been misdiagnosed with "AHO-like phenotype" with an unknown genetic cause, and also for better describing the characteristic and differential features of these less common syndromes.

Automated Detection of Actinic Keratoses in Clinical Photographs

PubMed Central

Hames, Samuel C.; Sinnya, Sudipta; Tan, Jean-Marie; Morze, Conrad; Sahebian, Azadeh; Soyer, H. Peter; Prow, Tarl W.

2015-01-01

Background Clinical diagnosis of actinic keratosis is known to have intra- and inter-observer variability, and there is currently no non-invasive and objective measure to diagnose these lesions. Objective The aim of this pilot study was to determine if automatically detecting and circumscribing actinic keratoses in clinical photographs is feasible. Methods Photographs of the face and dorsal forearms were acquired in 20 volunteers from two groups: the first with at least on actinic keratosis present on the face and each arm, the second with no actinic keratoses. The photographs were automatically analysed using colour space transforms and morphological features to detect erythema. The automated output was compared with a senior consultant dermatologist’s assessment of the photographs, including the intra-observer variability. Performance was assessed by the correlation between total lesions detected by automated method and dermatologist, and whether the individual lesions detected were in the same location as the dermatologist identified lesions. Additionally, the ability to limit false positives was assessed by automatic assessment of the photographs from the no actinic keratosis group in comparison to the high actinic keratosis group. Results The correlation between the automatic and dermatologist counts was 0.62 on the face and 0.51 on the arms, compared to the dermatologist’s intra-observer variation of 0.83 and 0.93 for the same. Sensitivity of automatic detection was 39.5% on the face, 53.1% on the arms. Positive predictive values were 13.9% on the face and 39.8% on the arms. Significantly more lesions (p<0.0001) were detected in the high actinic keratosis group compared to the no actinic keratosis group. Conclusions The proposed method was inferior to assessment by the dermatologist in terms of sensitivity and positive predictive value. However, this pilot study used only a single simple feature and was still able to achieve sensitivity of detection of 53.1% on the arms.This suggests that image analysis is a feasible avenue of investigation for overcoming variability in clinical assessment. Future studies should focus on more sophisticated features to improve sensitivity for actinic keratoses without erythema and limit false positives associated with the anatomical structures on the face. PMID:25615930

Clinical Characteristics, Treatments, and Prognosis of Atopic Eczema in the Elderly.

PubMed

Tanei, Ryoji

2015-05-18

Atopic eczema (AE) in the elderly is gradually increasing and has been added to the classification of AE in recent years. This investigation retrospectively analyzed 60 patients with elderly AE. Among the clinical characteristics, a male predominance, existence of several patterns of onset and clinical course, and associations with immunoglobulin (Ig)E-allergic-status and asthmatic complication were observed. The highest positive-rate and positive-score for serum-specific IgE against Dermatophagoides farinae were 83.8% and 2.65 in patients with IgE-allergic AE, and a lower incidence of lichenified eczema in the elbow and knee folds were observed. In terms of treatments and outcomes, clinical improvement and clinical remission were observed in 80.8% and 36.5% of cases, respectively, using standard treatments and combined therapy with oral corticosteroid in severe cases. As for complications and final prognosis, most elderly AE patients reached the end of life with AE, but patients with IgE-allergic AE showed significantly lower incidences of complications of malignancy and death from malignancy. These results indicate that AE in the elderly represents a new subgroup of AE with specific features.

Clinical Characteristics, Treatments, and Prognosis of Atopic Eczema in the Elderly

PubMed Central

Tanei, Ryoji

2015-01-01

Atopic eczema (AE) in the elderly is gradually increasing and has been added to the classification of AE in recent years. This investigation retrospectively analyzed 60 patients with elderly AE. Among the clinical characteristics, a male predominance, existence of several patterns of onset and clinical course, and associations with immunoglobulin (Ig)E-allergic-status and asthmatic complication were observed. The highest positive-rate and positive-score for serum-specific IgE against Dermatophagoides farinae were 83.8% and 2.65 in patients with IgE-allergic AE, and a lower incidence of lichenified eczema in the elbow and knee folds were observed. In terms of treatments and outcomes, clinical improvement and clinical remission were observed in 80.8% and 36.5% of cases, respectively, using standard treatments and combined therapy with oral corticosteroid in severe cases. As for complications and final prognosis, most elderly AE patients reached the end of life with AE, but patients with IgE-allergic AE showed significantly lower incidences of complications of malignancy and death from malignancy. These results indicate that AE in the elderly represents a new subgroup of AE with specific features. PMID:26239460

Sensorineural Deafness, Distinctive Facial Features and Abnormal Cranial Bones

PubMed Central

Gad, Alona; Laurino, Mercy; Maravilla, Kenneth R.; Matsushita, Mark; Raskind, Wendy H.

2008-01-01

The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. PMID:18553554

HLA-DRB1 alleles in juvenile-onset systemic lupus erythematosus: renal histologic class correlations.

PubMed

Liphaus, B L; Kiss, M H B; Goldberg, A C

2007-04-01

Human leukocyte antigens (HLA) DRB1*03 and DRB1*02 have been associated with systemic lupus erythematosus (SLE) in Caucasians and black populations. It has been observed that certain HLA alleles show stronger associations with SLE autoantibodies and clinical subsets, although they have rarely been associated with lupus renal histologic class. In the present study, HLA-DRB1 allele correlations with clinical features, autoantibodies and renal histologic class were analyzed in a cohort of racially mixed Brazilian patients with juvenile-onset SLE. HLA-DRB1 typing was carried out by polymerase chain reaction amplification with sequence-specific primers using genomic DNA from 55 children and adolescents fulfilling at least four of the American College of Rheumatology criteria for SLE. Significance was determined by the chi-square test applied to 2 x 2 tables. The HLA-DRB1*15 allele was most frequent in patients with renal, musculoskeletal, cutaneous, hematologic, cardiac, and neuropsychiatric involvement, as well as in patients positive for anti-dsDNA, anti-Sm, anti-U1-RNP, and anti-SSA/Ro antibodies, although an association between HLA alleles and SLE clinical features and autoantibodies could not be observed. The HLA-DRB1*17, HLA-DRB1*10, HLA-DRB1*15, and HLA-DRB1*07 alleles were significantly higher in patients with renal histologic class I, class IIA, class IIB, and class V, respectively. The present results suggest that the contribution of HLA- DRB1 alleles to juvenile-onset SLE could not be related to clinical or serological subsets of the disease, but it may be related to renal histologic classes, especially class I, class II A, class II B, and class V. The latter correlations have not been observed in literature.

Anti-MAG antibodies in 202 patients: clinicopathological and therapeutic features.

PubMed

Svahn, Juliette; Petiot, Philippe; Antoine, Jean-Christophe; Vial, Christophe; Delmont, Emilien; Viala, Karine; Steck, Andreas J; Magot, Armelle; Cauquil, Cecile; Zarea, Aline; Echaniz-Laguna, Andoni; Iancu Ferfoglia, Ruxandra; Gueguen, Antoine; Magy, Laurent; Léger, Jean-Marc; Kuntzer, Thierry; Ferraud, Karine; Lacour, Arnaud; Camdessanché, Jean-Philippe

2018-05-01

To assess the clinicopathological and therapeutic features of patients with low (≥1000 to <10 000 Bühlmann Titre Units) (BTU), medium (10 000-70 000) or high (≥70 000) anti-myelin-associated glycoprotein (anti-MAG) antibody titres. We retrospectively and prospectively analysed standardised report forms and medical records of 202 patients from 14 neuromuscular centres. Mean age at onset and mean time between symptom onset to last follow-up were respectively 62.6 years (25-91.4) and 8.4 years (0.3-33.3). Anti-MAG antibody titres at diagnosis were low, medium or high in 11%, 51% and 38% of patients. Patients presented with monoclonal gammopathy of undetermined significance in 68% of cases. About 17% of patients presented with 'atypical' clinical phenotype independently of anti-MAG titres, including acute or chronic sensorimotor polyradiculoneuropathies (12.4%), and asymmetric or multifocal neuropathy (3%). At the most severe disease stage, 22.4% of patients were significantly disabled. Seventy-eight per cent of patients received immunotherapies. Transient clinical worsening was observed in 12% of patients treated with rituximab (11/92). Stabilisation after rituximab treatment during the 7-12-month follow-up period was observed in 29% of patients. Clinical response to rituximab during the 6-month and/or 7-12-month follow-up period was observed in 31.5% of patients and correlated with anti-MAG titre ≥10 000 BTU. Our study highlights the extended clinical spectrum of patients with anti-MAG neuropathy, which appears unrelated to antibody titre. Besides, it may also suggest beneficial use of rituximab in the early phase of anti-MAG neuropathy. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Evaluation of a web based informatics system with data mining tools for predicting outcomes with quantitative imaging features in stroke rehabilitation clinical trials

NASA Astrophysics Data System (ADS)

Wang, Ximing; Kim, Bokkyu; Park, Ji Hoon; Wang, Erik; Forsyth, Sydney; Lim, Cody; Ravi, Ragini; Karibyan, Sarkis; Sanchez, Alexander; Liu, Brent

2017-03-01

Quantitative imaging biomarkers are used widely in clinical trials for tracking and evaluation of medical interventions. Previously, we have presented a web based informatics system utilizing quantitative imaging features for predicting outcomes in stroke rehabilitation clinical trials. The system integrates imaging features extraction tools and a web-based statistical analysis tool. The tools include a generalized linear mixed model(GLMM) that can investigate potential significance and correlation based on features extracted from clinical data and quantitative biomarkers. The imaging features extraction tools allow the user to collect imaging features and the GLMM module allows the user to select clinical data and imaging features such as stroke lesion characteristics from the database as regressors and regressands. This paper discusses the application scenario and evaluation results of the system in a stroke rehabilitation clinical trial. The system was utilized to manage clinical data and extract imaging biomarkers including stroke lesion volume, location and ventricle/brain ratio. The GLMM module was validated and the efficiency of data analysis was also evaluated.

Clinical symptoms predict concurrent social and global functioning in an early psychosis sample.

PubMed

Cacciotti-Saija, Cristina; Langdon, Robyn; Ward, Philip B; Hickie, Ian B; Guastella, Adam J

2018-04-01

Although well established in chronic schizophrenia, the key determinants of functioning remain unknown during the early phase of a psychotic disorder. The aim of this study was to comprehensively examine the social cognitive, basic neurocognitive and clinical predictors of concurrent social functioning and global functioning in an early psychosis sample. This study examined the relationship between social cognition, basic neurocognition and clinical symptoms with concurrent functioning in 51 early psychosis individuals. Assessments included a range of self-report, observational and clinician-rated measures of cognitive, symptom severity and functioning domains. Results revealed a significant association between self-reported social function and lower levels of both social interaction anxiety and negative psychotic symptoms. A significant association was also observed between lower levels of negative psychotic symptoms and observed social functioning. Lastly, results demonstrated a significant association between reduced negative psychotic symptoms and clinician-rated global functioning. Clinical domains such as negative symptoms and social interaction anxiety significantly contribute to an optimal model predicting outcome during the early phase of a psychotic disorder. These clinical features may also provide useful markers of an individual's capacity for social participation. Clinical implications include the need for early targeted intervention to address social anxiety and negative psychotic symptoms to facilitate optimum patient outcome. © 2015 Wiley Publishing Asia Pty Ltd.

Bladder cancer treatment response assessment with radiomic, clinical, and radiologist semantic features

NASA Astrophysics Data System (ADS)

Gordon, Marshall N.; Cha, Kenny H.; Hadjiiski, Lubomir M.; Chan, Heang-Ping; Cohan, Richard H.; Caoili, Elaine M.; Paramagul, Chintana; Alva, Ajjai; Weizer, Alon Z.

2018-02-01

We are developing a decision support system for assisting clinicians in assessment of response to neoadjuvant chemotherapy for bladder cancer. Accurate treatment response assessment is crucial for identifying responders and improving quality of life for non-responders. An objective machine learning decision support system may help reduce variability and inaccuracy in treatment response assessment. We developed a predictive model to assess the likelihood that a patient will respond based on image and clinical features. With IRB approval, we retrospectively collected a data set of pre- and post- treatment CT scans along with clinical information from surgical pathology from 98 patients. A linear discriminant analysis (LDA) classifier was used to predict the likelihood that a patient would respond to treatment based on radiomic features extracted from CT urography (CTU), a radiologist's semantic feature, and a clinical feature extracted from surgical and pathology reports. The classification accuracy was evaluated using the area under the ROC curve (AUC) with a leave-one-case-out cross validation. The classification accuracy was compared for the systems based on radiomic features, clinical feature, and radiologist's semantic feature. For the system based on only radiomic features the AUC was 0.75. With the addition of clinical information from examination under anesthesia (EUA) the AUC was improved to 0.78. Our study demonstrated the potential of designing a decision support system to assist in treatment response assessment. The combination of clinical features, radiologist semantic features and CTU radiomic features improved the performance of the classifier and the accuracy of treatment response assessment.

Prevalence of and markers for the attenuated form of congenital adrenal hyperplasia and hyperprolactinemia masquerading as polycystic ovarian disease.

PubMed

Benjamin, F; Deutsch, S; Saperstein, H; Seltzer, V L

1986-08-01

To determine the prevalence of the attenuated form of congenital adrenal hyperplasia (CAH) and hyperprolactinemia (HPPN) relative to polycystic ovarian disease (PCOD), 100 consecutive women presenting with the classic clinical features of PCOD were evaluated by basal hormonal profiles and subsequent adrenocorticotropic hormone (ACTH) stimulation tests. The study also sought biochemical markers for CAH other than ACTH stimulation. The prevalences were found to be as follows: PCOD, 65%; PCOD with HPPN, 9%; HPPN, 3%, end-organ hypersensitivity (EOH), 4%; homozygotic CAH, 4%; and heterozygotic CAH, 15%. Other than the differential response to ACTH, the only other biochemical markers observed for homozygotic CAH were significantly higher basal levels of testosterone (T) and 17 alpha-hydroxyprogesterone (17-OHP). Luteinizing hormone/follicle-stimulating hormone ratio, androstenedione, and dehydroepiandrosterone sulfate all showed no significant differences between homozygotic CAH, heterozygotic CAH, HPPN, PCOD, and EOH. This study establishes the relative prevalences of the syndromes commonly mimicking PCOD. We also conclude that the observed low incidence of CAH does not justify routine ACTH testing on all patients presenting with features of PCOD--however, our data suggest that patients with basal serum levels of T and 17-OHP greater than 50% above the upper limit of normal should undergo this dynamic test, especially if there are also certain clinical features suggestive of CAH.

Clinicopathological findings of primary esophageal malignant melanoma: report of six cases and review of literature.

PubMed

Zheng, Jinfeng; Mo, Haiying; Ma, Shufang; Wang, Zhenzheng

2014-01-01

We studied images and histopathological features of primary esophageal malignant melanoma to explore the clinical pathological features, diagnosis, differential diagnoses, and treatment. Immunolabelling was conducted on six cases of esophageal malignant melanoma using histological and immunohistochemical techniques. Combined with the related literature, the clinical manifestations, imaging, histopathological and immunohistochemical features, treatment, and prognosis of primary esophageal malignant melanoma were observed and analyzed. The six patients with primary esophageal malignant melanoma were all male with an average age of 63.4 years. Poor food intake was observed in all patients, and the symptoms showed progressive aggravation. Endoscopic feed tube revealed dark brown and black nodular and polypoid lesions, 1/4-1/2 loop cavity. Tumor histopathology revealed the following characteristics: tumor cells arranged in nests, sheets and cords, round or polygonal, abundant and red-stained cytoplasm, melanin granules in the cytoplasm, heterogeneous nucleus sizes, centered or deviated nuclei, clearly identifiable nucleoli, and apparent pathological mitosis. The immune phenotype was as follows: tumor cells had diffuse expression of HMB45, Melan A, and S100. The cells were CK negative, and the Ki67-positive cell number was 40%-45%. Primary esophageal malignant melanoma is rare with high malignancy and poor prognosis. Immunohistochemical staining is helpful for diagnosing this tumor. The differential diagnosis includes low differentiated carcinoma, primitive neuroectodermal tumor, esophageal sarcomatoid carcinoma, esophageal lymphoma, and other tumors.

Tubulointerstitial damage as the major pathological lesion in endemic chronic kidney disease among farmers in North Central Province of Sri Lanka.

PubMed

Nanayakkara, Shanika; Komiya, Toshiyuki; Ratnatunga, Neelakanthi; Senevirathna, S T M L D; Harada, Kouji H; Hitomi, Toshiaki; Gobe, Glenda; Muso, Eri; Abeysekera, Tilak; Koizumi, Akio

2012-05-01

Chronic kidney disease of uncertain etiology (CKDu) in North Central Province of Sri Lanka has become a key public health concern in the agricultural sector due to the dramatic rise in its prevalence and mortality among young farmers. Although cadmium has been suspected as a causative pathogen, there have been controversies. To date, the pathological characteristics of the disease have not been reported. Histopathological observations of 64 renal biopsies obtained at Anuradhapura General Hospital from October 2008 to July 2009 were scored according to Banff 97 Working Classification of Renal Allograft pathology. The correlations between the histological observations and clinical parameters were statistically analyzed. Interstitial fibrosis and tubular atrophy with or without nonspecific interstitial mononuclear cell infiltration was the dominant histopathological observation. Glomerular sclerosis, glomerular collapse, and features of vascular pathology such as fibrous intimal thickening and arteriolar hyalinosis were also common. Although hypertension was identified as one of the common clinical features among the cases, it did not influence the histopathological lesions in all the cases. This study concludes that tubulointerstitial damage is the major pathological lesion in CKDu. Exposure(s) to an environmental pathogen(s) should be systematically investigated to elucidate such tubulointerstitial damage in CKDu.

Clinics in diagnostic imaging (163). Transient lateral patellar dislocation with trochlear dysplasia

PubMed Central

Zhang, Junwei; Lee, Chin Hwee

2015-01-01

A 14-year-old girl presented with left knee pain and swelling after an injury. Magnetic resonance (MR) imaging showed a transient lateral patellar dislocation with patellar osteochondral fracture, medial patellofemoral ligament tear and underlying femoral trochlear dysplasia. Open reduction and internal fixation of the osteochondral fracture, plication of the medial patellar retinaculum and lateral release were performed. As lateral patellar dislocation is often clinically unsuspected, an understanding of its characteristic imaging features is important in making the diagnosis. Knowledge of the various predisposing factors for patellar instability may also influence the choice of surgical management. We also discuss signs of acute injury and chronic instability observed on MR imaging, and the imaging features of anatomical variants that predispose an individual to lateral patellar dislocation. Treatment options and postsurgical imaging appearances are also briefly described. PMID:26512145

Treatment Strategies for Intracranial Mirror Aneurysms.

PubMed

Wang, Wen-Xin; Xue, Zhe; Li, Lin; Wu, Chen; Zhang, Yan-Yang; Lou, Xin; Ma, Lin; Sun, Zheng-Hui

2017-04-01

Intracranial mirror aneurysms are clinically rare and uncommonly reported in the literature. Therefore, the present study evaluated a series of mirror aneurysm cases with respect to the clinical features of the patients and the treatment strategies that were used. This study retrospectively reviewed and systematically analyzed the clinical features, imaging data, treatment methods, and treatment outcomes of 68 cases of mirror aneurysms (a total of 70 pairs) in patients who were admitted to our department between November 2007 and May 2016. The patient population included 24 male and 44 female patients, with a mean age of 52 years. The mirror aneurysms were primarily located in posterior communicating artery and middle cerebral artery and 65 of the aneurysms were large or giant (≧10 mm). Of the 68 patients, 28 were treated by the clipping or embolization of all aneurysms in one stage, 16 were treated in 2 stages, 16 were treated by treating part of the aneurysms, and 8 were observed. The modified Rankin Scale scores of the 60 patients that were treated indicated that 52 had a good recovery (modified Rankin Scale score ≦2; 86.7%), and 1 patient died. Treatment strategies for mirror aneurysms should be determined individually according to the location, size, and morphology of the aneurysm, as well as the clinical manifestations of each patient. Furthermore, the responsible ruptured aneurysm should be given treatment priority, whereas the contralateral unruptured aneurysm should be observed or treated in either 1 or 2 stages. Copyright © 2017 Elsevier Inc. All rights reserved.

Identification of symptom and functional domains that fibromyalgia patients would like to see improved: a cluster analysis.

PubMed

Bennett, Robert M; Russell, Jon; Cappelleri, Joseph C; Bushmakin, Andrew G; Zlateva, Gergana; Sadosky, Alesia

2010-06-28

The purpose of this study was to determine whether some of the clinical features of fibromyalgia (FM) that patients would like to see improved aggregate into definable clusters. Seven hundred and eighty-eight patients with clinically confirmed FM and baseline pain > or =40 mm on a 100 mm visual analogue scale ranked 5 FM clinical features that the subjects would most like to see improved after treatment (one for each priority quintile) from a list of 20 developed during focus groups. For each subject, clinical features were transformed into vectors with rankings assigned values 1-5 (lowest to highest ranking). Logistic analysis was used to create a distance matrix and hierarchical cluster analysis was applied to identify cluster structure. The frequency of cluster selection was determined, and cluster importance was ranked using cluster scores derived from rankings of the clinical features. Multidimensional scaling was used to visualize and conceptualize cluster relationships. Six clinical features clusters were identified and named based on their key characteristics. In order of selection frequency, the clusters were Pain (90%; 4 clinical features), Fatigue (89%; 4 clinical features), Domestic (42%; 4 clinical features), Impairment (29%; 3 functions), Affective (21%; 3 clinical features), and Social (9%; 2 functional). The "Pain Cluster" was ranked of greatest importance by 54% of subjects, followed by Fatigue, which was given the highest ranking by 28% of subjects. Multidimensional scaling mapped these clusters to two dimensions: Status (bounded by Physical and Emotional domains), and Setting (bounded by Individual and Group interactions). Common clinical features of FM could be grouped into 6 clusters (Pain, Fatigue, Domestic, Impairment, Affective, and Social) based on patient perception of relevance to treatment. Furthermore, these 6 clusters could be charted in the 2 dimensions of Status and Setting, thus providing a unique perspective for interpretation of FM symptomatology.

Preprocessing Structured Clinical Data for Predictive Modeling and Decision Support

PubMed Central

Oliveira, Mónica Duarte; Janela, Filipe; Martins, Henrique M. G.

2016-01-01

Summary Background EHR systems have high potential to improve healthcare delivery and management. Although structured EHR data generates information in machine-readable formats, their use for decision support still poses technical challenges for researchers due to the need to preprocess and convert data into a matrix format. During our research, we observed that clinical informatics literature does not provide guidance for researchers on how to build this matrix while avoiding potential pitfalls. Objectives This article aims to provide researchers a roadmap of the main technical challenges of preprocessing structured EHR data and possible strategies to overcome them. Methods Along standard data processing stages – extracting database entries, defining features, processing data, assessing feature values and integrating data elements, within an EDPAI framework –, we identified the main challenges faced by researchers and reflect on how to address those challenges based on lessons learned from our research experience and on best practices from related literature. We highlight the main potential sources of error, present strategies to approach those challenges and discuss implications of these strategies. Results Following the EDPAI framework, researchers face five key challenges: (1) gathering and integrating data, (2) identifying and handling different feature types, (3) combining features to handle redundancy and granularity, (4) addressing data missingness, and (5) handling multiple feature values. Strategies to address these challenges include: cross-checking identifiers for robust data retrieval and integration; applying clinical knowledge in identifying feature types, in addressing redundancy and granularity, and in accommodating multiple feature values; and investigating missing patterns adequately. Conclusions This article contributes to literature by providing a roadmap to inform structured EHR data preprocessing. It may advise researchers on potential pitfalls and implications of methodological decisions in handling structured data, so as to avoid biases and help realize the benefits of the secondary use of EHR data. PMID:27924347

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

PubMed Central

Ferkol, Thomas W.; Davis, Stephanie D.; Lee, Hye-Seung; Rosenfeld, Margaret; Dell, Sharon D.; Sagel, Scott D.; Milla, Carlos; Olivier, Kenneth N.; Sullivan, Kelli M.; Zariwala, Maimoona A.; Pittman, Jessica E.; Shapiro, Adam J.; Carson, Johnny L.; Krischer, Jeffrey; Hazucha, Milan J.

2016-01-01

Rationale: Primary ciliary dyskinesia (PCD), a genetically heterogeneous, recessive disorder of motile cilia, is associated with distinct clinical features. Diagnostic tests, including ultrastructural analysis of cilia, nasal nitric oxide measurements, and molecular testing for mutations in PCD genes, have inherent limitations. Objectives: To define a statistically valid combination of systematically defined clinical features that strongly associates with PCD in children and adolescents. Methods: Investigators at seven North American sites in the Genetic Disorders of Mucociliary Clearance Consortium prospectively and systematically assessed individuals (aged 0–18 yr) referred due to high suspicion for PCD. The investigators defined specific clinical questions for the clinical report form based on expert opinion. Diagnostic testing was performed using standardized protocols and included nasal nitric oxide measurement, ciliary biopsy for ultrastructural analysis of cilia, and molecular genetic testing for PCD-associated genes. Final diagnoses were assigned as “definite PCD” (hallmark ultrastructural defects and/or two mutations in a PCD-associated gene), “probable/possible PCD” (no ultrastructural defect or genetic diagnosis, but compatible clinical features and nasal nitric oxide level in PCD range), and “other diagnosis or undefined.” Criteria were developed to define early childhood clinical features on the basis of responses to multiple specific queries. Each defined feature was tested by logistic regression. Sensitivity and specificity analyses were conducted to define the most robust set of clinical features associated with PCD. Measurements and Main Results: From 534 participants 18 years of age and younger, 205 were identified as having “definite PCD” (including 164 with two mutations in a PCD-associated gene), 187 were categorized as “other diagnosis or undefined,” and 142 were defined as having “probable/possible PCD.” Participants with “definite PCD” were compared with the “other diagnosis or undefined” group. Four criteria-defined clinical features were statistically predictive of PCD: laterality defect; unexplained neonatal respiratory distress; early-onset, year-round nasal congestion; and early-onset, year-round wet cough (adjusted odds ratios of 7.7, 6.6, 3.4, and 3.1, respectively). The sensitivity and specificity based on the number of criteria-defined clinical features were four features, 0.21 and 0.99, respectively; three features, 0.50 and 0.96, respectively; and two features, 0.80 and 0.72, respectively. Conclusions: Systematically defined early clinical features could help identify children, including infants, likely to have PCD. Clinical trial registered with ClinicalTrials.gov (NCT00323167). PMID:27070726

Prevalence and clinical features of hypoadrenocorticism in Great Pyrenees dogs in a referred population: 11 cases

PubMed Central

Decôme, Magali; Blais, Marie-Claude

2017-01-01

Naturally occurring hypoadrenocorticism (Addison’s disease) is uncommon, with an estimated prevalence in the canine population between 0.06% and 0.28%. This retrospective study evaluated the prevalence and clinical features of hypoadrenocorticism in Great Pyrenees (GP) dogs presented to the Centre Hospitalier Universitaire Vétérinaire of the University of Montreal between March 2005 and October 2014. During this period, 100 dogs were diagnosed with hypoadrenocorticism, representing 0.38% [95% confidence interval (CI): 0.26% to 0.5%] of the canine population studied. The highest prevalence was observed in GP (9.73%, 95% CI: 9.12% to 10.35%, P < 0.0001), followed by West Highland white terriers (4.66%, 95% CI: 4.24% to 5.09%, P < 0.0001), Great Danes (1.87%, 95% CI: 1.6% to 2.14%, P < 0.0001), standard poodles (1.76%, 95% CI: 1.5% to 2.02%, P = 0.0001), Saint Bernards (1.72%, 95% CI: 1.47% to 1.98%, P = 0.018), and Jack Russell terriers (1.48%, 95% CI: 1.24% to 1.72%, P = 0.003). Although most clinical features were nonspecific, Great Pyrenees dogs were more frequently presented with anemia, azotemia, and eosinophilia, or with hypotension and cachexia compared with dogs of other breeds. PMID:28966360

Personality in Parkinson's disease: Clinical, behavioural and cognitive correlates.

PubMed

Santangelo, Gabriella; Piscopo, Fausta; Barone, Paolo; Vitale, Carmine

2017-03-15

Affective disorders and personality changes have long been considered pre-motor aspects of Parkinson's disease (PD). Many authors have used the term "premorbid personality" to define distinctive features of PD patients' personality characterized by reduced exploration of new environmental stimuli or potential reward sources ("novelty seeking") and avoidance behaviour ("harm avoidance") present before motor features. The functional correlates underlying the personality changes described in PD, implicate dysfunction of meso-cortico-limbic and striatal circuits. As disease progresses, the imbalance of neurotransmitter systems secondary to degenerative processes, along with dopamine replacement therapy, can produce a reversal of behaviours and an increase in reward seeking, laying the foundations for the emergence of the impulse control disorders. Personality disorders can be interpreted, therefore, as the result of individual susceptibility arising from intrinsic degenerative processes and individual personality features, in combination with extrinsic factors such as lifestyle, PD motor dysfunction and drug treatment. For a better understanding of personality disorders observed in PD and their relationship with the prodromal stage of the disease, prospective clinical studies are needed that correlate different personality profiles with other disease progression markers. Here, we review previous studies investigating the clinical, cognitive and behavioural correlates of personality traits in PD patients. Copyright © 2017 Elsevier B.V. All rights reserved.

Pneumococcal pneumonia: clinical features, diagnosis and management in HIV-infected and HIV noninfected patients.

PubMed

Madeddu, Giordano; Fois, Alessandro Giuseppe; Pirina, Pietro; Mura, Maria Stella

2009-05-01

In this review, we focus on the clinical features, diagnosis and management of pneumococcal pneumonia in HIV-infected and noninfected patients, with particular attention to the most recent advances in this area. Classical clinical features are found in young adults, whereas atypical forms occur in immunocompromised patients including HIV-infected individuals. Bacteremic pneumococcal pneumonia is more frequently observed in HIV-infected and also in low-risk patients, according to the Pneumonia Severity Index (PSI). Pneumococcal pneumonia diagnostic process includes physical examination, radiologic findings and microbiologic diagnosis. However, etiologic diagnosis using traditional culture methods is difficult to obtain. In this setting, urinary antigen test, which recognizes Streptococcus pneumoniae cell wall C-polysaccharide, increases the probability of etiologic diagnosis. A correct management approach is crucial in reducing pneumococcal pneumonia mortality. The use of the PSI helps clinicians in deciding between inpatient and outpatient management in immunocompetent individuals, according to Infectious Diseases Society of America (IDSA)-American Thoracic Society (ATS) guidelines. Recent findings support PSI utility also in HIV-infected patients. Recently, efficacy of pneumococcal vaccine in reducing pneumococcal disease incidence has been evidenced in both HIV-infected and noninfected individuals. Rapid diagnosis and correct management together with implementation of preventive measures are crucial in order to reduce pneumococcal pneumonia related incidence and mortality in HIV-infected and noninfected patients.

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes

PubMed Central

de Vries, Tamar I; R Monroe, Glen; van Belzen, Martine J; van der Lans, Christian A; Savelberg, Sanne MC; Newman, William G; van Haaften, Gijs; Nievelstein, Rutger A; van Haelst, Mieke M

2016-01-01

Rubinstein–Taybi syndrome (RTS, OMIM 180849) and Filippi syndrome (FLPIS, OMIM 272440) are both rare syndromes, with multiple congenital anomalies and intellectual deficit (MCA/ID). We present a patient with intellectual deficit, short stature, bilateral syndactyly of hands and feet, broad thumbs, ocular abnormalities, and dysmorphic facial features. These clinical features suggest both RTS and FLPIS. Initial DNA analysis of DNA isolated from blood did not identify variants to confirm either of these syndrome diagnoses. Whole-exome sequencing identified a homozygous variant in C9orf173, which was novel at the time of analysis. Further Sanger sequencing analysis of FLPIS cases tested negative for CKAP2L variants did not, however, reveal any further variants. Subsequent analysis using DNA isolated from buccal mucosa revealed a mosaic variant in CREBBP. This report highlights the importance of excluding mosaic variants in patients with a strong but atypical clinical presentation of a MCA/ID syndrome if no disease-causing variants can be detected in DNA isolated from blood samples. As the striking syndactyly observed in the present case is typical for FLPIS, we suggest CREBBP analysis in saliva samples for FLPIS syndrome cases in which no causal CKAP2L variant is detected. PMID:26956253

Clinical forensic aspects of self-inflicted neck injuries.

PubMed

Govi, Annamaria; Fersini, Federica; Etzold, Saskia; Tsokos, Michael

2018-06-01

The distinction between self-inflicted injuries and other types of injuries is crucial in forensic medicine, and relevant features of wounds should be identified by pathologists, even when they are observed at atypical sites. Herein we report two cases of self-inflicted injuries of the neck involving two young women who had reported being attacked by men.

Towards noncontact skin melanoma selection by multispectral imaging analysis.

PubMed

Kuzmina, Ilona; Diebele, Ilze; Jakovels, Dainis; Spigulis, Janis; Valeine, Lauma; Kapostinsh, Janis; Berzina, Anna

2011-06-01

A clinical trial comprising 334 pigmented and vascular lesions has been performed in three Riga clinics by means of multispectral imaging analysis. The imaging system Nuance 2.4 (CRi) and self-developed software for mapping of the main skin chromophores were used. Specific features were observed and analyzed for malignant skin melanomas: notably higher absorbance (especially as the difference of optical density relative to the healthy skin), uneven chromophore distribution over the lesion area, and the possibility to select the "melanoma areas" in the correlation graphs of chromophores. The obtained results indicate clinical potential of this technology for noncontact selection of melanoma from other pigmented and vascular skin lesions.

Lesion with morphologic feature of organizing pneumonia (OP) in CT-guided lung biopsy samples for diagnosis of bronchiolitis obliterans organizing pneumonia (BOOP): a retrospective study of 134 cases in a single center.

PubMed

Miao, Liyun; Wang, Yongsheng; Li, Yan; Ding, Jingjing; Chen, Lulu; Dai, Jinghong; Cai, Hourong; Xiao, Yonglong; Cao, Min; Huang, Mei; Qiu, Yuying; Meng, Fanqing; Fan, Xiangshan; Zhang, Deping; Song, Yong

2014-09-01

Small biopsy samples are generally considered inconclusive for bronchiolitis obliterans organizing pneumonia (BOOP) diagnosis despite their potential to reveal organizing pneumonia (OP) pathologically, necessitating risky invasive tissue biopsy during surgery for reliable confirmation. OP by CT-guided lung biopsy was to evaluate the role in the diagnosis of BOOP. A retrospective review of 134 cases with the OP feature in the CT-guided lung biopsy samples between 2004 and 2011 at a single center was conducted. Diagnostic accuracy of OP by CT-guided lung biopsy and clinical-radiographic data alone were compared. After exclusion of 11 cases due to pathology with others besides OP and 15 cases for loss to follow-up, 108 were included. Of these, 95 cases and 13 cases were classified as BOOP and non-BOOP group, respectively. Among BOOP group, only 30 were initially diagnosed as BOOP according to the typical clinical and radiographic features. The other 65 cases with atypical features were diagnosed as BOOP mainly based on OP by CT-guided lung biopsy. Among non-BOOP group, one was misdiagnosed as BOOP, and others were not BOOP according to clinical and radiographic findings. Thus, OP by CT-guided lung biopsy produced a diagnostic accuracy of 87.96% (95/108), much higher than 31.25% (30/96) observed using clinical and radiographic data alone. Combined, these techniques produced diagnostic accuracy of 98.96% (95/96). OP by CT-guided lung biopsy can be effectively used as the pathological evidence for BOOP diagnosis and reducing unnecessary surgery.

Lesion with morphologic feature of organizing pneumonia (OP) in CT-guided lung biopsy samples for diagnosis of bronchiolitis obliterans organizing pneumonia (BOOP): a retrospective study of 134 cases in a single center

PubMed Central

Wang, Yongsheng; Li, Yan; Ding, Jingjing; Chen, Lulu; Dai, Jinghong; Cai, Hourong; Xiao, Yonglong; Cao, Min; Huang, Mei; Qiu, Yuying; Meng, Fanqing; Fan, Xiangshan; Zhang, Deping

2014-01-01

Background Small biopsy samples are generally considered inconclusive for bronchiolitis obliterans organizing pneumonia (BOOP) diagnosis despite their potential to reveal organizing pneumonia (OP) pathologically, necessitating risky invasive tissue biopsy during surgery for reliable confirmation. Objective OP by CT-guided lung biopsy was to evaluate the role in the diagnosis of BOOP. Methods A retrospective review of 134 cases with the OP feature in the CT-guided lung biopsy samples between 2004 and 2011 at a single center was conducted. Diagnostic accuracy of OP by CT-guided lung biopsy and clinical-radiographic data alone were compared. Results After exclusion of 11 cases due to pathology with others besides OP and 15 cases for loss to follow-up, 108 were included. Of these, 95 cases and 13 cases were classified as BOOP and non-BOOP group, respectively. Among BOOP group, only 30 were initially diagnosed as BOOP according to the typical clinical and radiographic features. The other 65 cases with atypical features were diagnosed as BOOP mainly based on OP by CT-guided lung biopsy. Among non-BOOP group, one was misdiagnosed as BOOP, and others were not BOOP according to clinical and radiographic findings. Thus, OP by CT-guided lung biopsy produced a diagnostic accuracy of 87.96% (95/108), much higher than 31.25% (30/96) observed using clinical and radiographic data alone. Combined, these techniques produced diagnostic accuracy of 98.96% (95/96). Conclusions OP by CT-guided lung biopsy can be effectively used as the pathological evidence for BOOP diagnosis and reducing unnecessary surgery. PMID:25276367

Heart Failure Due to Age-Related Cardiac Amyloid Disease Associated With Wild-Type Transthyretin: A Prospective, Observational Cohort Study

PubMed Central

Connors, Lawreen H.; Sam, Flora; Skinner, Martha; Salinaro, Francesco; Sun, Fangui; Ruberg, Frederick L.; Berk, John L.; Seldin, David C.

2015-01-01

Background Heart failure due to wild-type transthyretin amyloidosis (ATTRwt) is an under-appreciated cause of morbidity and mortality in the aging population. The aims of this study were to examine features of disease and characterize outcomes in a large ATTRwt cohort. Methods and Results Over 20 years, 121 patients with ATTRwt were enrolled in a prospective observational study. Median age at enrollment was 75.6 years (range, 62.6–87.8); 97% of patients were Caucasian. The median survival, measured from biopsy diagnosis, was 46.69 months (95% CI, 41.95–56.77); 78% of deaths were due to cardiac causes. By Kaplan-Meier analysis, 5-year survival was 35.7% (95% CI, 25–46). Impaired functional capacity (mean VO2 max of 13.5 mL/kg/min) and atrial fibrillation (67%) were common clinical features. Multivariate predictors of reduced survival were elevated serum brain natriuretic peptide (BNP, 482 ± 337 pg/mL) and uric acid (8.2 ± 2.6 mg/dL), decreased left ventricular ejection fraction (LVEF, 50% median ranging 10-70%), and increased relative wall thickness (RWT, 0.75 ± 0.19). Conclusions In this series of patients with biopsy-proven ATTRwt amyloidosis, poor functional capacity and atrial arrhythmias were common clinical features. Elevated BNP and uric acid, decreased LVEF, and increased RWT were associated with limited survival of only 35.7% at 5 years for the group as a whole. These data establish the natural history of ATTRwt, provide statistical basis for the design of future interventional clinical trials, and highlight the need for more sensitive diagnostic tests and disease-specific treatments for this disease. PMID:26660282

Familiality and clinical outcomes of sleep disturbances in major depressive and bipolar disorders.

PubMed

Lai, Yin-Chieh; Huang, Ming-Chyi; Chen, Hsi-Chung; Lu, Ming-Kun; Chiu, Yi-Hang; Shen, Winston W; Lu, Ru-Band; Kuo, Po-Hsiu

2014-01-01

Sleep disturbances are frequently observed in major depressive (MDD) and bipolar disorder (BD). This study reported sleep profiles of patients and their relatives versus controls, and examined the familiality of sleep features in mood disorder families. We also evaluated the influences of sleep disturbance on patients' quality of life (QOL), functional impairment, and suicidality. We recruited 363 BD and 157 MDD patients, 521 first-degree relatives, and 235 healthy controls, which completed a diagnostic interview, Pittsburgh Sleep Quality Index (PSQI), and QOL questionnaire. The magnitude of heritability of sleep features was calculated and familiality was evaluated by mixed regression models and intraclass correlation coefficient (ICC). The associations between sleep problems and clinical outcomes were examined using multiple regression models. More than three-quarters of mildly-ill patients were classified as "poor sleepers". MDD patients had significantly worse sleep quality as compared to BD patients. Moderate but significant familial aggregation was observed in subjective sleep quality, sleep latency, disturbance, daytime dysfunction, and global score (ICC=0.10-0.21, P<.05). Significant heritability was found in sleep quality (0.45, P<.001) and sleep disturbance (0.23, P<.001). Patients with good sleep quality had better QOL and less functional impairment (P<.05) than poor sleepers. Poor sleep quality and nightmares further increased the risk for suicidal ideation (ORadj=2.8) and suicide attempts (ORadj=1.9-2.8). Subjectively measured sleep features demonstrated significant familiality. Poor sleep quality further impaired patients' daily function and QOL, in addition to increasing the risk of suicidality, and thus requires special attention in related clinical settings. Copyright © 2013 Elsevier Inc. All rights reserved.

Quantitative description of solid breast nodules by ultrasound imaging

NASA Astrophysics Data System (ADS)

Sehgal, Chandra M.; Kangas, Sarah A.; Cary, Ted W.; Weinstein, Susan P.; Schultz, Susan M.; Arger, Peter H.; Conant, Emily F.

2004-04-01

Various features based on qualitative description of shape, contour, margin and echogenicity of solid breast nodules are used clinically to classify them as benign or malignant. However, there continues to be considerable overlap in the sonographic findings for the two types of lesions. This is related to the lack of precise definition of the various features as well as to the lack of agreement among observers, among other factors. The goal of this investigation is to define clinical features quantitatively and evaluate if they differ significantly in malignant and benign cases. Features based on margin sharpness and continuity, shadowing, and attenuation were defined and calculated from the images. These features were tested on digital phantoms. Following the evaluation, the features were measured on 116 breast sonograms of 58 biopsy-proven masses. Biopsy had been recommended for all of these breast lesions based on physical exams and conventional diagnostic imaging of ultrasound and/or mammography. Of the 58 masses, 20 were identified as malignant and 38 as benign histologically. Margin sharpness, margin echogenicity, and angular margin variation were significantly different for the two groups (p<0.03, two-tailed student t-test). Shadowing and attenuation of ultrasound did not show significant difference. The results of this preliminary study show that quantitative margin characteristics measured for the malignant and benign masses from the ultrasound images are different and could potentially be useful in identifying a subgroup of solid breast nodules that have low risk of being malignant.

The airway microbiome in patients with severe asthma: Associations with disease features and severity.

PubMed

Huang, Yvonne J; Nariya, Snehal; Harris, Jeffrey M; Lynch, Susan V; Choy, David F; Arron, Joseph R; Boushey, Homer

2015-10-01

Asthma is heterogeneous, and airway dysbiosis is associated with clinical features in patients with mild-to-moderate asthma. Whether similar relationships exist among patients with severe asthma is unknown. We sought to evaluate relationships between the bronchial microbiome and features of severe asthma. Bronchial brushings from 40 participants in the Bronchoscopic Exploratory Research Study of Biomarkers in Corticosteroid-refractory Asthma (BOBCAT) study were evaluated by using 16S ribosomal RNA-based methods. Relationships to clinical and inflammatory features were analyzed among microbiome-profiled subjects. Secondarily, bacterial compositional profiles were compared between patients with severe asthma and previously studied healthy control subjects (n = 7) and patients with mild-to-moderate asthma (n = 41). In patients with severe asthma, bronchial bacterial composition was associated with several disease-related features, including body mass index (P < .05, Bray-Curtis distance-based permutational multivariate analysis of variance; PERMANOVA), changes in Asthma Control Questionnaire (ACQ) scores (P < .01), sputum total leukocyte values (P = .06), and bronchial biopsy eosinophil values (per square millimeter, P = .07). Bacterial communities associated with worsening ACQ scores and sputum total leukocyte values (predominantly Proteobacteria) differed markedly from those associated with body mass index (Bacteroidetes/Firmicutes). In contrast, improving/stable ACQ scores and bronchial epithelial gene expression of FK506 binding protein (FKBP5), an indicator of steroid responsiveness, correlated with Actinobacteria. Mostly negative correlations were observed between biopsy eosinophil values and Proteobacteria. No taxa were associated with a TH2-related epithelial gene expression signature, but expression of TH17-related genes was associated with Proteobacteria. Patients with severe asthma compared with healthy control subjects or patients with mild-to-moderate asthma were significantly enriched in Actinobacteria, although the largest differences observed involved a Klebsiella genus member (7.8-fold increase in patients with severe asthma, adjusted P < .001). Specific microbiota are associated with and may modulate inflammatory processes in patients with severe asthma and related phenotypes. Airway dysbiosis in patients with severe asthma appears to differ from that observed in those with milder asthma in the setting of inhaled corticosteroid use. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

Clinical features and outcome of typhoid fever and invasive non-typhoidal salmonellosis in a tertiary hospital in Belgium: analysis and review of the literature.

PubMed

Yombi, J C; Martins, L; Vandercam, B; Rodriguez-Villalobos, H; Robert, A

2015-08-01

Typhoid fever (TF) occurs rarely in industrialized countries because of advances in health care and improvement of drinking water. Conversely, non-typhoid salmonellosis (NTS) remains widespread, because of food contamination or asymptomatic carriage. Non-typhoid salmonellosis can be severe when becoming invasive non-typhoid salmonellosis (iNTS). Although established prognostic indicators of the two pathologies are different, direct comparisons between iNTS and TF in the literature remain scarce. The purpose of this study was to analyse and compare demographic, clinical features and outcome of hospitalized patients with TF and iNTS. Demographic, clinical features and outcome were retrospectively analysed in a series of patients hospitalized between 2007 and 2012. A total of 33 patients were enrolled, including 13 with established TF and 20 with iNTS. No differences between TF and iNTS patients were observed in incidence of fever, abdominal cramps, diarrhoea, headache, nausea and vomiting and duration of antibiotic therapy (≤ 7 days in both groups). Although the clinical outcome of TF patients was identical to that of iNTS patients, including incidence of complications, length of hospitalization and mortality (1/13 (7.7%) vs 2/20 (10%), P = 0.43), comorbidities were less frequent in the TF group than in the iNTS group (2/13 vs 15/20, P = 0.003). The clinical profile and outcome of TF patients are similar to those with iNTS. Although comorbidities are more often associated with iNTS, the results of our study suggest that clinical management of these two diseases should remain similar.

STUMP un"stumped": anti-tumor response to anaplastic lymphoma kinase (ALK) inhibitor based targeted therapy in uterine inflammatory myofibroblastic tumor with myxoid features harboring DCTN1-ALK fusion.

PubMed

Subbiah, Vivek; McMahon, Caitlin; Patel, Shreyaskumar; Zinner, Ralph; Silva, Elvio G; Elvin, Julia A; Subbiah, Ishwaria M; Ohaji, Chimela; Ganeshan, Dhakshina Moorthy; Anand, Deepa; Levenback, Charles F; Berry, Jenny; Brennan, Tim; Chmielecki, Juliann; Chalmers, Zachary R; Mayfield, John; Miller, Vincent A; Stephens, Philip J; Ross, Jeffrey S; Ali, Siraj M

2015-06-11

Recurrent, metastatic mesenchymal myxoid tumors of the gynecologic tract present a management challenge as there is minimal evidence to guide systemic therapy. Such tumors also present a diagnostic dilemma, as myxoid features are observed in leiomyosarcomas, inflammatory myofibroblastic tumors (IMT), and mesenchymal myxoid tumors. Comprehensive genomic profiling was performed in the course of clinical care on a case of a recurrent, metastatic myxoid uterine malignancy (initially diagnosed as smooth muscle tumor of uncertain malignant potential (STUMP)), to guide identify targeted therapeutic options. To our knowledge, this case represents the first report of clinical response to targeted therapy in a tumor harboring a DCTN1-ALK fusion protein. Hybridization capture of 315 cancer-related genes plus introns from 28 genes often rearranged or altered in cancer was applied to >50 ng of DNA extracted from this sample and sequenced to high, uniform coverage. Therapy was given in the context of a phase I clinical trial ClinicalTrials.gov Identifier: ( NCT01548144 ). Immunostains showed diffuse positivity for ALK1 expression and comprehensive genomic profiling identified an in frame DCTN1-ALK gene fusion. The diagnosis of STUMP was revised to that of an IMT with myxoid features. The patient was enrolled in a clinical trial and treated with an anaplastic lymphoma kinase (ALK) inhibitor (crizotinib/Xalkori®) and a multikinase VEGF inhibitor (pazopanib/Votrient®). The patient experienced an ongoing partial response (6+ months) by response evaluation criteria in solid tumors (RECIST) 1.1 criteria. For myxoid tumors of the gynecologic tract, comprehensive genomic profiling can identify clinical relevant genomic alterations that both direct treatment targeted therapy and help discriminate between similar diagnostic entities.

Examining the effect of self-explanation on cognitive integration of basic and clinical sciences in novices.

PubMed

Lisk, Kristina; Agur, Anne M R; Woods, Nicole N

2017-12-01

Several studies have shown that cognitive integration of basic and clinical sciences supports diagnostic reasoning in novices; however, there has been limited exploration of the ways in which educators can translate this model of mental activity into sound instructional strategies. The use of self-explanation during learning has the potential to promote and support the development of integrated knowledge by encouraging novices to elaborate on the causal relationship between clinical features and basic science mechanisms. To explore the effect of this strategy, we compared diagnostic efficacy of teaching students (n = 71) the clinical features of four musculoskeletal pathologies using either (1) integrated causal basic science descriptions (BaSci group); (2) integrated causal basic science descriptions combined with self-explanation prompts (SE group); (3) basic science mechanisms segregated from the clinical features (SG group). All participants completed a diagnostic accuracy test immediately after learning and 1-week later. The results showed that the BaSci group performed significantly better compared to the SE (p = 0.019) and SG groups (p = 0.004); however, no difference was observed between the SE and SG groups (p = 0.91). We hypothesize that the structure of the self-explanation task may not have supported the development of a holistic conceptual understanding of each disease. These findings suggest that integration strategies need to be carefully structured and applied in ways that support the holistic story created by integrated basic science instruction in order to foster conceptual coherence and to capitalize on the benefits of cognition integration.

Clinical features of human metapneumovirus genotypes in children with acute lower respiratory tract infection in Changsha, China.

PubMed

Zeng, Sai-Zhen; Xiao, Ni-Guang; Zhong, Li-Li; Yu, Tian; Zhang, Bing; Duan, Zhao-Jun

2015-11-01

To explore the epidemiological and clinical features of different human metapneumovirus (hMPV) genotypes in hospitalized children. Reverse transcription polymerase chain reaction (RT-PCR) or PCR was employed to screen for both hMPV and other common respiratory viruses in 2613 nasopharyngeal aspirate specimens collected from children with lower respiratory tract infections from September 2007 to February 2011 (a period of 3.5 years). The demographics and clinical presentations of patients infected with different genotypes of hMPV were compared. A total of 135 samples were positive for hMPV (positive detection rate: 5.2%). Co-infection with other viruses was observed in 45.9% (62/135) of cases, and human bocavirus was the most common additional respiratory virus. The most common symptoms included cough, fever, and wheezing. The M gene was sequenced for 135 isolates; of these, genotype A was identified in 72.6% (98/135) of patients, and genotype B was identified in 27.4% (37/135) of patients. The predominant genotype of hMPV changed over the 3.5-year study period from genotype A2b to A2b or B1 and then to predominantly B1. Most of clinical features were similar between patients infected with different hMPV genotypes. These results suggested that hMPV is an important viral pathogen in pediatric patients with acute lower respiratory tract infection in Changsha. The hMPV subtypes A2b and B1 were found to co-circulate. The different hMPV genotypes exhibit similar clinical characteristics. © 2015 Wiley Periodicals, Inc.

Fat embolism syndrome in long bone trauma following vehicular accidents: Experience from a tertiary care hospital in north India.

PubMed

Koul, Parvaiz A; Ahmad, Feroze; Gurcoo, Showkat A; Khan, Umar H; Naqash, Imtiyaz A; Sidiq, Suhail; Jan, Rafi Ahmad; Koul, Ajaz N; Ashraf, Mohammad; Bhat, Mubasher Ahmad

2013-04-01

Fat embolism syndrome (FES) is a clinical problem arising mainly due to fractures particularly of long bones and pelvis. Not much literature is available about FES from the Indian subcontinent. Thirty-five patients referred/admitted prospectively over a 3-year period for suspected FES to a north Indian tertiary care center and satisfying the clinical criteria proposed by Gurd and Wilson, and Schonfeld were included in the study. Clinical features, risk factors, complications, response to treatment and any sequelae were recorded. The patients (all male) presented with acute onset breathlessness, 36-120 hours following major bone trauma due to vehicular accidents. Associated features included features of cerebral dysfunction (n = 24, 69%), petechial rash (14%), tachycardia (94%) and fever (46%). Hypoxemia was demonstrable in 80% cases, thrombocytopenia in 91%, anemia in 94% and hypoalbuminemia in 59%. Bilateral alveolar infiltrates were seen on chest radiography in 28 patients and there was evidence of bilateral ground glass appearance in 5 patients on CT. Eleven patients required ventilatory assistance whereas others were treated with supportive management. Three patients expired due to associated sepsis and respiratory failure, whereas others recovered with a mean hospital stay of 9 days. No long term sequelae were observed. FES remains a clinical challenge and is a diagnosis of exclusion based only on clinical grounds because of the absence of any specific laboratory test. A high index of suspicion is required for diagnosis and initiating supportive management in patients with traumatic fractures, especially in those having undergone an invasive orthopedic procedure.

Fat embolism syndrome in long bone trauma following vehicular accidents: Experience from a tertiary care hospital in north India

PubMed Central

Koul, Parvaiz A.; Ahmad, Feroze; Gurcoo, Showkat A.; Khan, Umar H.; Naqash, Imtiyaz A.; Sidiq, Suhail; Jan, Rafi Ahmad; Koul, Ajaz N.; Ashraf, Mohammad; Bhat, Mubasher Ahmad

2013-01-01

Background: Fat embolism syndrome (FES) is a clinical problem arising mainly due to fractures particularly of long bones and pelvis. Not much literature is available about FES from the Indian subcontinent. Materials and Methods: Thirty-five patients referred/admitted prospectively over a 3-year period for suspected FES to a north Indian tertiary care center and satisfying the clinical criteria proposed by Gurd and Wilson, and Schonfeld were included in the study. Clinical features, risk factors, complications, response to treatment and any sequelae were recorded. Results: The patients (all male) presented with acute onset breathlessness, 36-120 hours following major bone trauma due to vehicular accidents. Associated features included features of cerebral dysfunction (n = 24, 69%), petechial rash (14%), tachycardia (94%) and fever (46%). Hypoxemia was demonstrable in 80% cases, thrombocytopenia in 91%, anemia in 94% and hypoalbuminemia in 59%. Bilateral alveolar infiltrates were seen on chest radiography in 28 patients and there was evidence of bilateral ground glass appearance in 5 patients on CT. Eleven patients required ventilatory assistance whereas others were treated with supportive management. Three patients expired due to associated sepsis and respiratory failure, whereas others recovered with a mean hospital stay of 9 days. No long term sequelae were observed. Conclusion: FES remains a clinical challenge and is a diagnosis of exclusion based only on clinical grounds because of the absence of any specific laboratory test. A high index of suspicion is required for diagnosis and initiating supportive management in patients with traumatic fractures, especially in those having undergone an invasive orthopedic procedure. PMID:23741088

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

PubMed Central

Vanderver, Adeline; van Spaendonk, Rosalina M.L.; Schiffmann, Raphael; Brais, Bernard; Bugiani, Marianna; Sistermans, Erik; Catsman-Berrevoets, Coriene; Kros, Johan M.; Pinto, Pedro Soares; Pohl, Daniela; Tirupathi, Sandya; Strømme, Petter; de Grauw, Ton; Fribourg, Sébastien; Demos, Michelle; Pizzino, Amy; Naidu, Sakkubai; Guerrero, Kether; van der Knaap, Marjo S.; Bernard, Geneviève

2014-01-01

Objective: To study the clinical and radiologic spectrum and genotype–phenotype correlation of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) leukodystrophy caused by mutations in POLR3A or POLR3B. Methods: We performed a multinational cross-sectional observational study of the clinical, radiologic, and molecular characteristics of 105 mutation-proven cases. Results: The majority of patients presented before 6 years with gross motor delay or regression. Ten percent had an onset beyond 10 years. The disease course was milder in patients with POLR3B than in patients with POLR3A mutations. Other than the typical neurologic, dental, and endocrine features, myopia was seen in almost all and short stature in 50%. Dental and hormonal findings were not invariably present. Mutations in POLR3A and POLR3B were distributed throughout the genes. Except for French Canadian patients, patients from European backgrounds were more likely to have POLR3B mutations than other populations. Most patients carried the common c.1568T>A POLR3B mutation on one allele, homozygosity for which causes a mild phenotype. Systematic MRI review revealed that the combination of hypomyelination with relative T2 hypointensity of the ventrolateral thalamus, optic radiation, globus pallidus, and dentate nucleus, cerebellar atrophy, and thinning of the corpus callosum suggests the diagnosis. Conclusions: 4H is a well-recognizable clinical entity if all features are present. Mutations in POLR3A are associated with a more severe clinical course. MRI characteristics are helpful in addressing the diagnosis, especially if patients lack the cardinal non-neurologic features. PMID:25339210

A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis.

PubMed

Ekbote, Alka V; Danda, Debashish; Kumar, Sathish; Danda, Sumita; Madhuri, Vrisha; Gibikote, Sridhar

2013-06-01

Progressive-psuedorheumatoid-arthropathy of childhood (PPAC) is an autosomal recessive single gene skeletal dysplasia involving joints. The gene attributed to its cause is WNT1-inducible-signaling pathway protein3 (WISP3). To study the clinical and radiographic presentation of PPAC in Indian patients and to compare with described features of PPAC and Juvenile Idiopathic Arthritis (JIA) from published literature. All cases (n = 14) of PPAC seen in the Rheumatology and Clinical Genetics outpatient clinic between 2008 and 2011 with classical, clinical, and radiological features were studied. The demographic and clinical data were obtained from medical records of the outpatient visits. Slight female preponderance (57%) and history of consanguinity in parents (43%) was observed in this group. The median age at onset was 4.5 years (range from birth to 9 years of age). Early presentation below the age of 3 years was seen in 3/14 patients (21%) in this group. The growth of all the patients fell below the 3rd percentile for the age. Historically, hip joint involvement was the most common presenting feature; however, elbow, wrist, knees, feet, spine, shoulder joints and small joints, namely proximal interphalangeal (PIP), distal interphalangeal (DIP), metacarpophalangeal (MCP), metatarsophalangeal joints (MTP), and interphalangeal joints (IP) of the feet, were also involved, either clinically or radiologically in varying proportions. Platyspondyly was noted in all. Molecular analysis of the WISP3 gene identified mutations in all the 5 individuals in whom it was done. This descriptive case series of PPAC from India reports distinctly differentiating clinical, radiological, and molecular markers in contrast with classically described features of JIA, its mimic. Early presentation (age of onset below 3 years) with involvement of interphalangeal joints seen in three patients (21%) was a unique finding, with missense WISP3 gene mutations in all of them. Timely diagnosis of this entity can spare the patient from unnecessary investigations and toxic medications. Copyright © 2013 Elsevier Inc. All rights reserved.

Neuroimaging features in subacute encephalopathy with seizures in alcoholics (SESA syndrome)

PubMed Central

Drake-Pérez, Marta; de Lucas, Enrique Marco; Lyo, John; Fernández-Torre, José L.

2017-01-01

Purpose To describe the neuroimaging findings in subacute encephalopathy with seizures in alcoholics (SESA syndrome). Methods We reviewed all cases reported previously, as well as 4 patients diagnosed in our center. We included a total of 8 patients. All subjects had clinical and EEG findings compatible with SESA syndrome and at least one MRI study that did not show other underlying condition that could be responsible for the clinical presentation. Results Initial MRI studies revealed the following features: cortical-subcortical areas of increased T2/FLAIR signal and restricted diffusion (6 patients), hyperperfusion (3 patients), atrophy (5 patients), chronic microvascular ischemic changes (4 patients). Follow-up MRI was performed in half of the patients, all showing a resolution of the hyperintense lesions, but developing focal atrophic changes in 75%. Conclusions SESA syndrome should be included among the alcohol-related encephalopathies. Its radiological features include transient cortical-subcortical T2-hyperintense areas with restricted diffusion (overlapping the typical findings in status epilepticus) observed in a patient with atrophy and chronic multifocal vascular lesions. PMID:27391464

Extracranial metastasizing solitary fibrous tumors (SFT) of meninges: histopathological features of a case with long-term follow-up.

PubMed

Gessi, Marco; Gielen, Gerrit H; Roeder-Geyer, Eva-Dorette; Sommer, Clemens; Vieth, Michael; Braun, Veit; Kuchelmeister, Klaus; Pietsch, Torsten

2013-02-01

Extrapleural solitary fibrous tumors are uncommon mesenchymal neoplasms frequently observed in middle-aged adults and are classified, according to the WHO classification of soft tissue tumors, as part of the hemangiopericytoma tumor group. However, these two entities remain separated in the WHO classification of tumors of the central nervous system. In fact, meningeal solitary fibrous tumors are believed to be benign lesion and only in a minority of cases local relapses have been described, although detailed survival clinical studies on solitary fibrous tumors of meninges are rare. In contrast to hemangiopericytoma, which frequently shows distant extracranial metastases, such an event is exceptional in patients with meningeal solitary fibrous tumors and has been clinically reported in a handful of cases only and their histopathological features have not been investigated in detail. In this report, we describe the detailed clinico-pathological features of a meningeal solitary fibrous tumor presenting during a 17-year follow-up period, multiple intra-, extracranial relapses and lung metastases. © 2012 Japanese Society of Neuropathology.

Catatonia in Psychotic Patients: Clinical Features and Treatment Response

PubMed Central

England, Mary L.; Öngür, Dost; Konopaske, Glenn T.; Karmacharya, Rakesh

2012-01-01

We report clinical features and treatment response in 25 patients with catatonia admitted to an inpatient psychiatric unit specializing in psychotic disorders. ECT, benzodiazepines, and clozapine had beneficial effects on catatonic features, while typical antipsychotics resulted in clinical worsening. PMID:21677256

Predicting couple therapy outcomes based on speech acoustic features

PubMed Central

Nasir, Md; Baucom, Brian Robert; Narayanan, Shrikanth

2017-01-01

Automated assessment and prediction of marital outcome in couples therapy is a challenging task but promises to be a potentially useful tool for clinical psychologists. Computational approaches for inferring therapy outcomes using observable behavioral information obtained from conversations between spouses offer objective means for understanding relationship dynamics. In this work, we explore whether the acoustics of the spoken interactions of clinically distressed spouses provide information towards assessment of therapy outcomes. The therapy outcome prediction task in this work includes detecting whether there was a relationship improvement or not (posed as a binary classification) as well as discerning varying levels of improvement or decline in the relationship status (posed as a multiclass recognition task). We use each interlocutor’s acoustic speech signal characteristics such as vocal intonation and intensity, both independently and in relation to one another, as cues for predicting the therapy outcome. We also compare prediction performance with one obtained via standardized behavioral codes characterizing the relationship dynamics provided by human experts as features for automated classification. Our experiments, using data from a longitudinal clinical study of couples in distressed relations, showed that predictions of relationship outcomes obtained directly from vocal acoustics are comparable or superior to those obtained using human-rated behavioral codes as prediction features. In addition, combining direct signal-derived features with manually coded behavioral features improved the prediction performance in most cases, indicating the complementarity of relevant information captured by humans and machine algorithms. Additionally, considering the vocal properties of the interlocutors in relation to one another, rather than in isolation, showed to be important for improving the automatic prediction. This finding supports the notion that behavioral outcome, like many other behavioral aspects, is closely related to the dynamics and mutual influence of the interlocutors during their interaction and their resulting behavioral patterns. PMID:28934302

Radiomics analysis of DWI data to identify the rectal cancer patients qualified for local excision after neoadjuvant chemoradiotherapy

NASA Astrophysics Data System (ADS)

Tang, Zhenchao; Liu, Zhenyu; Zhang, Xiaoyan; Shi, Yanjie; Wang, Shou; Fang, Mengjie; Sun, Yingshi; Dong, Enqing; Tian, Jie

2018-02-01

The Locally advanced rectal cancer (LARC) patients were routinely treated with neoadjuvant chemoradiotherapy (CRT) firstly and received total excision afterwards. While, the LARC patients might relieve to T1N0M0/T0N0M0 stage after the CRT, which would enable the patients be qualified for local excision. However, accurate pathological TNM stage could only be obtained by the pathological examination after surgery. We aimed to conduct a Radiomics analysis of Diffusion weighted Imaging (DWI) data to identify the patients in T1N0M0/T0N0M0 stages before surgery, in hope of providing clinical surgery decision support. 223 routinely treated LARC patients in Beijing Cancer Hospital were enrolled in current study. DWI data and clinical characteristics were collected after CRT. According to the pathological TNM stage, the patients of T1N0M0 and T0N0M0 stages were labelled as 1 and the other patients were labelled as 0. The first 123 patients in chronological order were used as training set, and the rest patients as validation set. 563 image features extracted from the DWI data and clinical characteristics were used as features. Two-sample T test was conducted to pre-select the top 50% discriminating features. Least absolute shrinkage and selection operator (Lasso)-Logistic regression model was conducted to further select features and construct the classification model. Based on the 14 selected image features, the area under the Receiver Operating Characteristic (ROC) curve (AUC) of 0.8781, classification Accuracy (ACC) of 0.8432 were achieved in the training set. In the validation set, AUC of 0.8707, ACC (ACC) of 0.84 were observed.

Simulation of realistic retinoscopic measurement

NASA Astrophysics Data System (ADS)

Tan, Bo; Chen, Ying-Ling; Baker, K.; Lewis, J. W.; Swartz, T.; Jiang, Y.; Wang, M.

2007-03-01

Realistic simulation of ophthalmic measurements on normal and diseased eyes is presented. We use clinical data of ametropic and keratoconus patients to construct anatomically accurate three-dimensional eye models and simulate the measurement of a streak retinoscope with all the optical elements. The results show the clinical observations including the anomalous motion in high myopia and the scissors reflex in keratoconus. The demonstrated technique can be applied to other ophthalmic instruments and to other and more extensively abnormal eye conditions. It provides promising features for medical training and for evaluating and developing ocular instruments.

Morphological and immunohistochemical features of Cryptosporidium andersoni in cattle.

PubMed

Masuno, K; Yanai, T; Hirata, A; Yonemaru, K; Sakai, H; Satoh, M; Masegi, T; Nakai, Y

2006-03-01

Light and electron microscopic features and immunohistochemical features of Cryptosporidium andersoni (C. andersoni) and host reaction in the mucosa were studied. Although the affected cattle demonstrated no apparent clinical signs, a severe infection of C. andersoni was observed in the abomasum. C. andersoni were round in shape, measured 6-8 microm in size and were mainly observed to be freely located in the gastric pits, being attached in occasional cases to the surface of the abomasum epithelium. Frequent inflammatory cells had infiltrated the lamina propria of the affected mucosa, and frequent mitotic figures were observed in epithelial cells at the dilated isthmus. To access the cell kinetics, the number of epithelial cells infected with C. andersoni were counted and compared with noninfected cattle. The number of gastric pit cells in infected cattle was significantly higher than that in the controls. The number of proliferative cells determined by the Ki-67 antigen in C. andersoni infected cattle was also significantly higher than that in the controls. Transmission electron microscopy and scanning electron microscopy revealed that the morphology of the C. andersoni organism was common to those of other Cryptosporidium spp. Immunohistochemically, several commercial antibodies against Cryptosporidium spp. showed positive reactions at the wall of these oocysts or parasitophorous vacuoles. This report is possibly the first to discuss the prominent hyperplasia of the abomasum mucosa, as well as morphologic features of C. andersoni in cattle.

Detection of EML4-ALK fusion gene and features associated with EGFR mutations in Chinese patients with non-small-cell lung cancer.

PubMed

Wen, Miaomiao; Wang, Xuejiao; Sun, Ying; Xia, Jinghua; Fan, Liangbo; Xing, Hao; Zhang, Zhipei; Li, Xiaofei

2016-01-01

Echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) and epidermal growth factor receptor (EGFR) define specific molecular subsets of lung cancer with distinct clinical features. We aimed at revealing the clinical features of EML4-ALK fusion gene and EGFR mutation in non-small-cell lung cancer (NSCLC). We enrolled 694 Chinese patients with NSCLC for analysis. EML4-ALK fusion gene was analyzed by real-time polymerase chain reaction, and EGFR mutations were analyzed by amplified refractory mutation system. Among the 694 patients, 60 (8.65%) patients had EML4-ALK fusions. In continuity correction χ (2) test analysis, EML4-ALK fusion gene was correlated with sex, age, smoking status, and histology, but no significant association was observed between EML4-ALK fusion gene and clinical stage. A total of 147 (21.18%) patients had EGFR mutations. In concordance with previous reports, EGFR mutation was correlated with age, smoking status, histology, and clinical stage, whereas patient age was not significantly associated with EGFR mutation. Meanwhile, to our surprise, six (0.86%) patients had coexisting EML4-ALK fusions and EGFR mutations. EML4-ALK fusion gene defines a new molecular subset in patients with NSCLC. Six patients who harbored both EML4-ALK fusion genes and EGFR mutations were identified in our study. The EGFR mutations and the EML4-ALK fusion genes are coexistent.

Optic neuritis with positive HLA-B27: Characteristic phenotype in the Chinese population.

PubMed

Zhao, Shuo; Zhou, Huanfen; Peng, Xudong; Zhu, Jian; Wang, Wei; Kang, Hao; Chen, Tingjun; Xu, Quangang; Wei, Shihui

2016-03-15

This study retrospectively reviewed the clinical features of optic neuritis (ON) with positive HLA-B27. Clinical data were reviewed for HLA-B27-positive ON in the Chinese People's Liberation Army General Hospital from January 2009 through June 2015. The prevalence of HLA-B27 and spondyloarthropathies was analyzed. Clinical features of HLA-B27-positive ON based on serum aquaporin 4-antibody (AQP4-Ab) were compared. A total of 22 ON patients (14 female/8 male, 38 involved eyes) with positive HLA-B27 were collected from 410 ON patients. Recurrent episodes were observed in 14/22 patients, and seven patients presented as bilateral simultaneous ON. A total of 68.4% (22/38) of involved eyes exhibited severe visual impairment (<0.1) at onset. A total of 8/22 patients were seropositive for AQP4-Ab, and clinical features did not differ based on AQP4-Ab status. Bilateral sacroiliitis was revealed in over 50% (7/13) of patients screened using pelvic computed tomography. Three patients were diagnosed with ankylosing spondylitis (AS), and one patient experienced co-occurrence of active AS and bilateral ON. HLA-B27-positive ON may presented recurrent episodes and severe visual impairment at onset. The co-occurrence of ON and AS, and the frequent presence of bilateral sacroiliitis may indicate an underlying alternation of autoimmune background in this condition. Copyright © 2016 Elsevier B.V. All rights reserved.

Detection of EML4-ALK fusion gene and features associated with EGFR mutations in Chinese patients with non-small-cell lung cancer

PubMed Central

Wen, Miaomiao; Wang, Xuejiao; Sun, Ying; Xia, Jinghua; Fan, Liangbo; Xing, Hao; Zhang, Zhipei; Li, Xiaofei

2016-01-01

Purpose Echinoderm microtubule-associated protein-like 4–anaplastic lymphoma kinase (EML4-ALK) and epidermal growth factor receptor (EGFR) define specific molecular subsets of lung cancer with distinct clinical features. We aimed at revealing the clinical features of EML4-ALK fusion gene and EGFR mutation in non-small-cell lung cancer (NSCLC). Methods We enrolled 694 Chinese patients with NSCLC for analysis. EML4-ALK fusion gene was analyzed by real-time polymerase chain reaction, and EGFR mutations were analyzed by amplified refractory mutation system. Results Among the 694 patients, 60 (8.65%) patients had EML4-ALK fusions. In continuity correction χ2 test analysis, EML4-ALK fusion gene was correlated with sex, age, smoking status, and histology, but no significant association was observed between EML4-ALK fusion gene and clinical stage. A total of 147 (21.18%) patients had EGFR mutations. In concordance with previous reports, EGFR mutation was correlated with age, smoking status, histology, and clinical stage, whereas patient age was not significantly associated with EGFR mutation. Meanwhile, to our surprise, six (0.86%) patients had coexisting EML4-ALK fusions and EGFR mutations. Conclusion EML4-ALK fusion gene defines a new molecular subset in patients with NSCLC. Six patients who harbored both EML4-ALK fusion genes and EGFR mutations were identified in our study. The EGFR mutations and the EML4-ALK fusion genes are coexistent. PMID:27103824

Clinical and Imaging Findings in Childhood Posterior Reversible Encephalopathy Syndrome

PubMed Central

GUNGOR, Serdal; KILIC, Betul; TABEL, Yilmaz; SELIMOGLU, Ayse; OZGEN, Unsal; YILMAZ, Sezai

2018-01-01

Objective Posterior reversible encephalopathy syndrome (PRES) is characterized by typical radiologic findings in the posterior regions of the cerebral hemispheres and cerebellum. The symptoms include headache, nausea, vomiting, visual disturbances, focal neurologic deficits, and seizures. The aim of this study is to evaluate the clinical and radiological features of PRES in children and to emphasize the recognition of atypical features. Materials & Methods We retrospectively examined 23 children with PRES from Mar 2010-Apr 2015 in Inonu University Turgut Ozal Medical Center in Turkey. We compared the clinical features and cranial MRI findings between underlying diseases of PRES. Results The most common precipitating factors were hypertension (78.2%) and medications, namely immunosuppressive and antineoplastic agents (60.8%). Manifestations included mental changes (100%), seizures (95.6%), headache (60.8%), and visual disturbances (21.7%) of mean 3.6 (range 1-10) days' duration. Cranial magnetic resonance imaging (MRI) showed bilateral occipital lesions in all patients, associated in 82.6% with less typical distribution of lesions in frontal, temporal or parietal lobes, cerebellum, corpus callosum, basal ganglia, thalamus, and brain stem. Frontal involvement was predominant, observed in 56.5% of patients. Clinical recovery was followed by radiologic resolution in all patients. Conclusion PRES is often unsuspected by the clinician, thus radiologists may be the first to suggest this diagnosis on an MRI obtained for seizures or encephalopathy. Atypical MRI finding is seen quite often. Rapid diagnosis and treatment are required to avoid a devastating outcome. PMID:29379559

Both serum and tissue Galectin-1 levels are associated with adverse clinical features in neuroblastoma.

PubMed

Chen, Kai; Cai, Yuanxia; Zhang, Min; Wu, Zhixiang; Wu, Yeming

2018-05-24

Neuroblastoma is one of the most common pediatric solid tumors. Although the 5-year overall survival rate has increased over the past few decades, high-risk patients still have a poor prognosis due to a lack of biomonitoring therapy. This study was performed to investigate the role of Galectin-1 in neuroblastoma biomonitoring therapy. A tissue microarray containing 37 neuroblastoma tissue samples was used to evaluate the correlation between Galectin-1 expression and clinical features. Blood samples were examined to better understand whether serum Galectin-1 (sGalectin-1) could be used for biomonitoring therapy. Kaplan-Meier analysis and ROC analysis was conducted to distinguish the outcome associated with high or low expression of Galectin-1 in patients with neuroblastoma. Increased Galectin-1 expression was found in neuroblastoma and it was further demonstrated that elevated tissue Galectin-1 expression was related to INSS stage, histology, bone marrow metastasis, and poor survival. sGalectin-1 levels were higher in newly diagnosed patients with neuroblastoma than healthy subjects. Patients with elevated sGalectin-1 through treatment cycles correlated with the poor chemo-responses and tended to have worse outcomes, such as metastasis or stable tumor size, whereas gradually decreasing sGalectin-1 levels correlated with no observed progression in clinical symptoms. Tissue and serum Galectin-1 levels were associated with adverse clinical features in patients with neuroblastoma, and sGalectin-1 could be a potential biomarker for monitoring therapy. © 2018 Wiley Periodicals, Inc.

False positive or negative results of shear-wave elastography in differentiating benign from malignant breast masses: analysis of clinical and ultrasonographic characteristics.

PubMed

Kim, Mi Young; Choi, Nami; Yang, Jung-Hyun; Yoo, Young Bum; Park, Kyoung Sik

2015-10-01

Shear-wave elastography (SWE) has the potential to improve diagnostic performance of conventional ultrasound (US) in differentiating benign from malignant breast masses. To investigate false positive or negative results of SWE in differentiating benign from malignant breast masses and to analyze clinical and imaging characteristics of the masses with false SWE findings. From May to October 2013, 166 breast lesions of 164 consecutive women (mean age, 45.3 ± 10.1 years) who had been scheduled for biopsy were included. Conventional US and SWE were performed in all women before biopsy. Clinical, ultrasonographic morphologic features and SWE parameters (pattern classification and standard deviation [SD]) were recorded and compared with the histopathology results. Patient and lesion factors in the "true" and "false" groups were compared. Of the 166 masses, 118 (71.1%) were benign and 48 (28.9%) were malignant. False SWE features were more frequently observed in benign masses. False positive rates of benign masses and false negative rates of malignancy were 53% and 8.2%, respectively, using SWE pattern analysis and were 22.4% and 10.3%, respectively, using SD values. A lesion boundary of the masses on US (P = 0.039) and younger patient age (P = 0.047) were significantly associated with false SWE findings. These clinical and ultrasonographic features need to be carefully evaluated in performance and interpretation of SWE examinations. © The Foundation Acta Radiologica 2014.

Natural history, risk factors and clinical features of primary hypogonadism in ageing men: Longitudinal Data from the European Male Ageing Study.

PubMed

Ahern, Tomás; Swiecicka, Agnieszka; Eendebak, Robert J A H; Carter, Emma L; Finn, Joseph D; Pye, Stephen R; O'Neill, Terence W; Antonio, Leen; Keevil, Brian; Bartfai, György; Casanueva, Felipe F; Forti, Gianni; Giwercman, Aleksander; Han, Thang S; Kula, Krzysztof; Lean, Michael E J; Pendleton, Neil; Punab, Margus; Rastrelli, Giulia; Rutter, Martin K; Vanderschueren, Dirk; Huhtaniemi, Ilpo T; Wu, Frederick C W

2016-12-01

In ageing men, the incidence and clinical significance of testosterone (T) decline accompanied by elevated luteinizing hormone (LH) are unclear. We describe the natural history, risk factors and clinical features associated with the development of biochemical primary hypogonadism (PHG, T < 10·5 nmol/l and LH>9·4U/l) in ageing men. A prospective observational cohort survey of 3,369 community-dwelling men aged 40-79 years, followed up for 4·3 years. Men were classified as incident (i) PHG (eugonadal [EUG, T ≥ 10·5 nmol/l] at baseline, PHG at follow-up), persistent (p) PHG (PHG at baseline and follow-up), pEUG (EUG at baseline and follow-up) and reversed (r) PHG (PHG at baseline, EUG at follow-up). Predictors and changes in clinical features associated with the development of PHG were analysed by regression models. Of 1,991 men comprising the analytical sample, 97·5% had pEUG, 1·1% iPHG, 1·1% pPHG and 0·3% rPHG. The incidence of PHG was 0·2%/year. Higher age (>70 years) [OR 12·48 (1·27-122·13), P = 0·030] and chronic illnesses [OR 4·24 (1·08-16·56); P = 0·038] predicted iPHG. Upon transition from EUG to PHG, erectile function, physical vigour and haemoglobin worsened significantly. Men with pPHG had decreased morning erections, sexual thoughts and haemoglobin with increased insulin resistance. Primary testicular failure in men is uncommon and predicted by old age and chronic illness. Some clinical features attributable to androgen deficiency, but not others, accompanied the T decline in men who developed biochemical PHG. Whether androgen replacement can improve sexual and/or physical function in elderly men with PHG merits further study. © 2016 John Wiley & Sons Ltd.

Physical exercise antagonizes clinical and anatomical features characterizing Lieber-DeCarli diet-induced obesity and related metabolic disorders.

PubMed

Gonçalves, Inês O; Passos, Emanuel; Rocha-Rodrigues, Sílvia; Torrella, Joan R; Rizo, David; Santos-Alves, Estela; Portincasa, Piero; Martins, Maria J; Ascensão, António; Magalhães, José

2015-04-01

Lieber-DeCarli diet has been used to induce obesity and non-alcoholic steatohepatitis (NASH). As scarce anatomical and clinical-related information on this diet model exists and being exercise an advised strategy to counteract metabolic diseases, we aimed to analyze the preventive (voluntary physical activity - VPA) and therapeutic (endurance training - ET) effect of exercise on clinical/anatomical features of rats fed with Lieber-DeCarli diet. In the beginning of the protocol, Sprague-Dawley rats were divided into standard-diet sedentary (SS, n = 20), standard-diet VPA (SVPA, n = 10), high-fat diet sedentary (HS, n = 20) and high-fat diet VPA (HVPA, n = 10) groups. After 9-weeks, half (n = 10) of SS and HS groups were engaged in an ET program (8 wks/5 d/wk/60 min/day). At this time, a blood sample was collected for biochemical analysis. At the end of protocol (17-weeks) anatomic measures were assessed. Heart, liver, femur and visceral fat were weighted and blood was collected again. Liver section was used for histopathological examination. At 17-weeks, high-fat diet increased visceral adiposity (HS vs. SS), which was counteracted by both exercises. However, ET was the only intervention able to diminished obesity-related measures and the histological features of NASH. Moreover, blood analysis at 9 weeks showed that high-fat diet increased ALT, AST, cholesterol and HDL while VLDL and TG levels were decreased (HS vs. SS). Notably, although these parameters were counteracted after 9-weeks of VPA, they were transitory and not observed after 17-weeks. ET used as a therapeutic tool mitigated the clinical/anatomical-related features induced by Liber-DeCarli diet, thus possibly contributing to control obesity and metabolic disorders. Copyright © 2014 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

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Physician leadership development at Cleveland Clinic: a brief review.

PubMed

Christensen, Terri; Stoller, James K

2016-06-01

We aim to describe the rationale for and spectrum of leadership development programs, highlighting experience at a large healthcare institution (Cleveland Clinic, Cleveland, Ohio, USA). Developing leaders is a universal priority to sustain organizational success. In health care, significant challenges of ensuring quality and access and making care affordable are widely shared internationally and demand effective physician leadership. Yet, leadership competencies differ from clinical and scientific competencies and features of selecting and training physicians-who have been called "heroic lone healers" -often conspire against physicians being effective leaders or followers. Thus, developing leadership competencies in physicians is critical.Leadership development programs have been signature features of successful organizations and various Australian organizations offer such training (e.g. The Australian Leadership Foundation and the University of South Australia), but relatively few health care organizations have adopted the practice of offering such training, both in Australia and elsewhere. As a United States example of one such integrated program, the Cleveland Clinic, a large, closed-staff physician-led group practice in Cleveland, Ohio has offered physician leadership training for over 15 years. This paper describes the rationale, structure, and some of the observed impacts associated with this program. © The Royal Australian and New Zealand College of Psychiatrists 2016.

[Demographic and clinical features of patients with rheumatoid arthritis in Piauí, Brazil--evaluation of 98 patients].

PubMed

Almeida, Maria do Socorro Teixeira Moreira; Almeida, João Vicente Moreira; Bertolo, Manoel Barros

2014-01-01

Brazilian epidemiological studies on rheumatoid arthritis are scarce, mainly in the northeast; thus many data currently available originate from the international literature. To describe demographic, clinical and serological characteristics of patients with rheumatoid arthritis (RA) followed-up by the same physician, in state of Piauí, Brazil. Data were collected between August 2010 and March 2013, in three health services of Piauí that provided health care in Rheumatology: a university-affiliated hospital, a public outpatient clinic and a private clinic. The numbers represent mean ± SD or percentage: 47.5±11.03 years-old non-Caucasian woman, non-smoker (59.2%), low educational level, mean disease duration of 7.7 years ± 7.6, and major extra-articular manifestations were rheumatoid nodules (19.4%) and sicca syndrome (46.9%). Features of rheumatoid arthritis obtained in this study are similar to those found in some national and international studies, but we observed higher female preponderance and illiteracy rate, in addition to a moderately severe erosive disease on average, with frequent sicca and other extra-articular manifestations. Copyright © 2014 Elsevier Editora Ltda. All rights reserved.

A Complex Multiherbal Regimen Based on Ayurveda Medicine for the Management of Hepatic Cirrhosis Complicated by Ascites: Nonrandomized, Uncontrolled, Single Group, Open-Label Observational Clinical Study.

PubMed

Patel, Manish V; Patel, Kalapi B; Gupta, Shivenarain; Michalsen, Andreas; Stapelfeldt, Elmar; Kessler, Christian S

2015-01-01

Hepatic cirrhosis is one of the leading causes of death worldwide, especially if complicated by ascites. This chronic condition can be related to the classical disease entity jalodara in Traditional Indian Medicine (Ayurveda). The present paper aims to evaluate the general potential of Ayurvedic therapy for overall clinical outcomes in hepatic cirrhosis complicated by ascites (HCcA). In form of a nonrandomized, uncontrolled, single group, open-label observational clinical study, 56 patients fulfilling standardized diagnostic criteria for HCcA were observed during their treatment at the P. D. Patel Ayurveda Hospital, Nadiad, India. Based on Ayurvedic tradition, a standardized treatment protocol was developed and implemented, consisting of oral administration of single and compound herbal preparations combined with purificatory measures as well as dietary and lifestyle regimens. The outcomes were assessed by measuring liver functions through specific clinical features and laboratory parameters and by evaluating the Child-Pugh prognostic grade score. After 6 weeks of treatment and a follow-up period of 18 weeks, the outcomes showed statistically significant and clinically relevant improvements. Further larger and randomized trials on effectiveness, safety, and quality of the Ayurvedic approach in the treatment of HCcA are warranted to support these preliminary findings.

Pediatric Chiari malformation type I: long-term outcomes following small-bone-window posterior fossa decompression with autologous-fascia duraplasty

PubMed Central

Liu, Hai; Yang, Chenlong; Yang, Jun; Xu, Yulun

2017-01-01

Chiari malformation type I (CM-I) is a common hindbrain disorder that is associated with deformity and elongation of the cerebellar tonsils. Although CM-I occurs in both pediatric and adult patients, its prevalence, clinical features and management in the pediatric population are not well defined. The current study evaluated a consecutive case series of 92 children (38 females and 54 males) who were diagnosed with congenital CM-I. All patients underwent small-bone-window posterior fossa decompression with autologous-fascia duraplasty. Clinical and radiological features were analyzed and long-term follow-up data were recorded. Risk factors associated with clinical outcomes were investigated using comprehensive statistical methods. Out of the 92 children, 11 (12.0%) were asymptomatic. Associated ventricular dilation was observed in 24 children (26.1%) and concomitant syringomyelia was observed in 72 children (78.3%). A total of 44 children (47.8%) showed scoliosis on plain films. Follow-up data (mean duration, 88.6 months) were available for all patients. Syringomyelia was absent or markedly reduced in 56 patients (77.8%). Symptoms were alleviated in 66 patients, remained unchanged in 12 patients and progressed in 3 patients. Statistical analysis indicated that the cerebellar tonsillar descent (CTD) grade, basilar invagination and platybasia influenced the clinical outcome (P<0.05). In conclusion, early recognition and surgical treatment of CM-I in pediatric patients can lead to good outcomes. The current results suggested that small-bone-window posterior fossa decompression with autologous-fascia duraplasty was an effective safe treatment option with a low complication rate. High CTD grade, basilar invagination and platybasia were indicated to be predictors of poor clinical prognosis. PMID:29285106

Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis.

PubMed

Worobec, A S; Semere, T; Nagata, H; Metcalfe, D D

1998-11-15

The Asp816Val mutation in the catalytic domain of the c-kit receptor has been identified in patients with systemic mastocytosis. To determine whether this mutation is associated with identifiable clinical patterns of disease and prognosis, a total of 65 patients with mastocytosis were screened for the presence of the Asp816Val mutation in peripheral blood mononuclear cells (PBMCs). By analysis of HinfI digestion products, the authors found that the overall prevalence of this mutation in the current patient series was 25%. The presence of the Asp816Val mutation in PBMCs was observed in 15 adults (of 16 Asp816Val mutation positive patients) and 1 infant, but not in any children with mastocytosis. Patients whose PBMCs were positive for this mutation (category II and a subset of category Ib mastocytosis patients) manifested a more severe disease pattern, with clinical features ranging in severity from early to advanced myelodysplastic or myeloproliferative syndromes. These patients more commonly had osteosclerotic bone involvement (a clinical feature primarily observed in mastocytosis patients with an associated hematologic disorder) as well as immunoglobulin dysregulation and peripheral blood abnormalities. Furthermore, pedigree analysis of three families provided evidence that the mutation was somatic. Twenty-five percent of all patients with mastocytosis had the Asp816Val mutation in PBMCs; 56% of these patients had evidence of a myelodysplastic or myeloproliferative syndrome, and 44% had been clinically placed in the indolent mastocytosis category, suggesting that the current classification scheme used to assign prognosis may be inadequate. Therefore, determination of the presence or absence of this mutation in PBMCs of mastocytosis patients offers a useful adjunct in determining the extent of workup and assigning prognosis in this complex and heterogeneous disease.

Classification of Movement of People with Parkinsons Disease Using Wearable Inertial Movement Units and Machine Learning.

PubMed

Ireland, David; Wang, Ziwei; Lamont, Robyn; Liddle, Jacki

2016-01-01

In this work, inertial movement units were placed on people with Parkinsons disease (PwPD) who subsequently performed a standard test of walking endurance (six-minute walk test - 6MWT). Five devices were placed on each the limbs and small of the back. These devices captured the acceleration and rotational motion while the person walked as far as they can in six minutes. The wearable devices can objectively indicate the pattern and rhythmicity of limb and body movements. It is possible that this data, when subject to machine learning could provide additional objective measures that may support clinical observations related to the quality of movement. The aim of this work is two fold. First, to identify the most useful features of the captured signals; second, to identify the accuracy of using these features to predict the severity of PD as measured by standard clinical assessment.

Primary sternum diffuse large B-cell lymphoma: A case report and review of the literature

PubMed Central

TONG, MENG-YING; ZHANG, XIAN; YU, ZHE; SUN, XIU-HUA; LI, SHUANG; ZHANG, YANG

2015-01-01

Primary bone lymphoma (PBL) is a rare disease, accounting for >1% of all cases of malignant lymphoma. Diffuse large B-cell lymphoma (DLBCL) is the most common histological type of PBL. The present study reported the case of a 68-year-old male with primary bone DLBCL, originally occurred in the sternum, which is a rare form of presentation. Computed tomography (CT), magnetic resonance imaging and bone emission CT were performed, followed by immunohistochemical analysis of a biopsy specimen, and the results were used to establish the diagnosis. At the time of diagnosis, no osseous involvement was observed. The clinical, radiological and histological features of PBL can mimic other medical conditions, thereby making the diagnosis difficult, and frequently leading to delays in treatment. The present study investigated the clinical features, management and prognosis of PBL, and reviewed previous relevant cases. PMID:26137117

Psychological Features and Their Relationship to Movement-Based Subgroups in People Living With Low Back Pain.

PubMed

Karayannis, Nicholas V; Jull, Gwendolen A; Nicholas, Michael K; Hodges, Paul W

2018-01-01

To determine the distribution of higher psychological risk features within movement-based subgroups for people with low back pain (LBP). Cross-sectional observational study. Participants were recruited from physiotherapy clinics and community advertisements. Measures were collected at a university outpatient-based physiotherapy clinic. People (N=102) seeking treatment for LBP. Participants were subgrouped according to 3 classification schemes: Mechanical Diagnosis and Treatment (MDT), Treatment-Based Classification (TBC), and O'Sullivan Classification (OSC). Questionnaires were used to categorize low-, medium-, and high-risk features based on depression, anxiety, and stress (Depression, Anxiety, and Stress Scale-21 Items); fear avoidance (Fear-Avoidance Beliefs Questionnaire); catastrophizing and coping (Pain-Related Self-Symptoms Scale); and self-efficacy (Pain Self-Efficacy Questionnaire). Psychological risk profiles were compared between movement-based subgroups within each scheme. Scores across all questionnaires revealed that most patients had low psychological risk profiles, but there were instances of higher (range, 1%-25%) risk profiles within questionnaire components. The small proportion of individuals with higher psychological risk scores were distributed between subgroups across TBC, MDT, and OSC schemes. Movement-based subgrouping alone cannot inform on individuals with higher psychological risk features. Copyright © 2017 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

Masturbation in infancy and early childhood presenting as a movement disorder: 12 cases and a review of the literature.

PubMed

Yang, Michele L; Fullwood, Erika; Goldstein, Joshua; Mink, Jonathan W

2005-12-01

Infantile masturbation (gratification behavior) is not commonly identified as a cause of recurrent paroxysmal movements. Extensive and fruitless investigations may be pursued before establishing this diagnosis. Sparse literature is available regarding masturbatory behavior as a whole, but literature available as case reports describes common features. The purpose of this case series is to describe consistent features in young children with posturing accompanying masturbation. Twelve patients presenting to a pediatric movement disorders clinic with a suspected movement disorder were determined to have postures and movements associated with masturbation. We reviewed the clinical history, examination, and home videotapes of these patients. Our patients had several features in common: (1) onset after the age of 3 months and before 3 years; (2) stereotyped episodes of variable duration; (3) vocalizations with quiet grunting; (4) facial flushing with diaphoresis; (5) pressure on the perineum with characteristic posturing of the lower extremities; (6) no alteration of consciousness; (7) cessation with distraction; (8) normal examination; and (9) normal laboratory studies. The identification of these common features by primary care providers should assist in making this diagnosis and eliminate the need for extensive, unnecessary testing. Direct observation of the events is crucial, and the video camera is a useful tool that may help in the identification of masturbatory behavior.

Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?

PubMed

Gad, Alona; Laurino, Mercy; Maravilla, Kenneth R; Matsushita, Mark; Raskind, Wendy H

2008-07-15

The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair, and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. 2008 Wiley-Liss, Inc.

Angioarchitectural features of brain arteriovenous malformations associated with seizures: a single center retrospective series.

PubMed

Sturiale, C L; Rigante, L; Puca, A; Di Lella, G; Albanese, A; Marchese, E; Di Rocco, C; Maira, G; Colicchio, G

2013-05-01

Epileptic seizures account for 24-40% of all clinical onsets in patients with brain arteriovenous malformations (AVMs). We retrospectively reviewed the angioarchitectural features of AVMs associated with seizures in 168 patients admitted to our Department from 1997 to 2012. Patients were dichotomized according to demographic characteristics, type of treatment, bleeding occurrence, and morphological and topographic features. Clinical status at admission and discharge was also recorded. The association of each one of these variables with seizures occurrence was statistically tested. Continuous variables and outcome were compared with Student's t-test, whereas categorical ones were compared using Fisher's exact test. The independent contribution of some seizures predictors was assessed with a logistic regression model. Associations were considered significant for P < 0.05. About 29% patients showed seizures and 47% bleeding. No significant difference in age and sex was observed between patients with and without seizures. AVMs > 4 cm (P = 0.001) and those fed by dilated arterial feeders (P = 0.02) were associated with increased risk of seizures. A higher risk of seizures occurrence was also observed in cortical AVMs compared with deeper ones (75.5% vs. 55.4%; P = 0.01), and in AVMs fed by middle and posterior cerebral arteries branches compared with the other vessels (81.6% vs. 45.3%; P < 0.001 and 48.9% vs. 23.5%; P = 0.002, respectively). No lobar predisposition was observed. A nidus > 4 cm also appeared as an independent risk factor of seizures occurrence (OR 2.82; 95% CI, 1.26-6.31; P = 0.009) at logistic regression analysis. AVM morphology, especially nidus dimension, appeared to more significantly influence seizures occurrence than their topography. © 2013 The Author(s) European Journal of Neurology © 2013 EFNS.

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

PubMed

Saitsu, Hirotomo; Tohyama, Jun; Walsh, Tom; Kato, Mitsuhiro; Kobayashi, Yu; Lee, Ming; Tsurusaki, Yoshinori; Miyake, Noriko; Goto, Yu-Ichi; Nishino, Ichizo; Ohtake, Akira; King, Mary-Claire; Matsumoto, Naomichi

2014-10-01

Recently, de novo mutations in TBL1XR1 were found in two patients with autism spectrum disorders. Here, we report on a Japanese girl presenting with West syndrome, Rett syndrome-like and autistic features. Her initial development was normal until she developed a series of spasms at 5 months of age. Electroencephalogram at 7 months showed a pattern of hypsarrhythmia, which led to a diagnosis of West syndrome. Stereotypic hand movements appeared at 8 months of age, and autistic features such as deficits in communication, hyperactivity and excitability were observed later, at 4 years and 9 months. Whole exome sequencing of the patient and her parents revealed a de novo TBL1XR1 mutation [c.209 G>A (p.Gly70Asp)] occurring at an evolutionarily conserved amino acid in an F-box-like domain. Our report expands the clinical spectrum of TBL1XR1 mutations to West syndrome with Rett-like features, together with autistic features.

TU-CD-BRB-01: Normal Lung CT Texture Features Improve Predictive Models for Radiation Pneumonitis

DOE Office of Scientific and Technical Information (OSTI.GOV)

Krafft, S; The University of Texas Graduate School of Biomedical Sciences, Houston, TX; Briere, T

2015-06-15

Purpose: Existing normal tissue complication probability (NTCP) models for radiation pneumonitis (RP) traditionally rely on dosimetric and clinical data but are limited in terms of performance and generalizability. Extraction of pre-treatment image features provides a potential new category of data that can improve NTCP models for RP. We consider quantitative measures of total lung CT intensity and texture in a framework for prediction of RP. Methods: Available clinical and dosimetric data was collected for 198 NSCLC patients treated with definitive radiotherapy. Intensity- and texture-based image features were extracted from the T50 phase of the 4D-CT acquired for treatment planning. Amore » total of 3888 features (15 clinical, 175 dosimetric, and 3698 image features) were gathered and considered candidate predictors for modeling of RP grade≥3. A baseline logistic regression model with mean lung dose (MLD) was first considered. Additionally, a least absolute shrinkage and selection operator (LASSO) logistic regression was applied to the set of clinical and dosimetric features, and subsequently to the full set of clinical, dosimetric, and image features. Model performance was assessed by comparing area under the curve (AUC). Results: A simple logistic fit of MLD was an inadequate model of the data (AUC∼0.5). Including clinical and dosimetric parameters within the framework of the LASSO resulted in improved performance (AUC=0.648). Analysis of the full cohort of clinical, dosimetric, and image features provided further and significant improvement in model performance (AUC=0.727). Conclusions: To achieve significant gains in predictive modeling of RP, new categories of data should be considered in addition to clinical and dosimetric features. We have successfully incorporated CT image features into a framework for modeling RP and have demonstrated improved predictive performance. Validation and further investigation of CT image features in the context of RP NTCP modeling is warranted. This work was supported by the Rosalie B. Hite Fellowship in Cancer research awarded to SPK.« less

Pathological characterisation of male breast cancer: Results of the EORTC 10085/TBCRC/BIG/NABCG International Male Breast Cancer Program.

PubMed

Vermeulen, Marijn A; Slaets, Leen; Cardoso, Fatima; Giordano, Sharon H; Tryfonidis, Konstantinos; van Diest, Paul J; Dijkstra, Nizet H; Schröder, Carolien P; van Asperen, Christi J; Linderholm, Barbro; Benstead, Kim; Foekens, Renee; Martens, John W M; Bartlett, John M S; van Deurzen, Carolien H M

2017-09-01

Several prognostic histological features have been established in female breast cancer (BC), but it is unknown whether these can be extrapolated to male BC patients. The aim of this study was to evaluate the prognostic value of several histological features in a large series of male BC. Central pathology review was performed for 1483 male BCs collected through part 1 of the European Organisation for Research and Treatment of Cancer (EORTC) International Male BC Program. Pathology review included histological subtype, grade, mitotic activity index (MAI), presence of a fibrotic focus and density of tumour-infiltrating lymphocytes (TILs). These features were correlated with clinical outcome. The relationship between these features and surrogate molecular subtypes using immunohistochemistry was also assessed. Median follow-up for overall survival (OS) was 7.1 years. Overall histological grade was not significantly associated with OS (p = 0.129). MAI, the presence of a fibrotic focus and a low TIL density however were correlated with unfavourable OS (p = 0.023, p = 0.004 and p = 0.011, respectively). BC subtype correlated with TIL density (p = 0.015), as we observed a higher density for human epidermal growth factor receptor type 2 (HER2) positive BC compared to luminal HER2-negative subtype. No association was observed between subtype and fibrotic focus. Histologic grade was not significantly correlated with clinical outcome in this series, unlike what is seen in female patients. These results contribute to our understanding of male BC and indicate the importance of further research on the optimisation of risk stratification and treatment decisions for male BC patients. Copyright © 2017 Elsevier Ltd. All rights reserved.

Mitochondrial DNA replication, nucleoside reverse-transcriptase inhibitors, and AIDS cardiomyopathy.

PubMed

Lewis, William

2003-01-01

Nucleoside reverse-transcriptase inhibitors (NRTIs) in combination with other antiretrovirals (HAART) are the cornerstones of current AIDS therapy, but extensive use brought mitochondrial side effects to light. Clinical experience, pharmacological, cell, and molecular biological evidence links altered mitochondrial (mt-) DNA replication to the toxicity of NRTIs in many tissues, and conversely, mtDNA replication defects and mtDNA depletion in target tissues are observed. Organ-specific pathological changes or diverse systemic effects result from and are frequently attributed to HAART in which NRTIs are included. The shared features of mtDNA depletion and energy depletion became key observations and related the clinical and in vivo experimental findings to inhibition of mtDNA replication by NRTI triphosphates in vitro. Subsequent to those findings, other observations suggested that mitochondrial energy deprivation is concomitant with or the result of mitochondrial oxidative stress in AIDS (from HIV, for example) or from NRTI therapy itself. Copyright 2003, Elsevier Science (USA)

Mirror neurons and their clinical relevance.

PubMed

Rizzolatti, Giacomo; Fabbri-Destro, Maddalena; Cattaneo, Luigi

2009-01-01

One of the most exciting events in neurosciences over the past few years has been the discovery of a mechanism that unifies action perception and action execution. The essence of this 'mirror' mechanism is as follows: whenever individuals observe an action being done by someone else, a set of neurons that code for that action is activated in the observers' motor system. Since the observers are aware of the outcome of their motor acts, they also understand what the other individual is doing without the need for intermediate cognitive mediation. In this Review, after discussing the most pertinent data concerning the mirror mechanism, we examine the clinical relevance of this mechanism. We first discuss the relationship between mirror mechanism impairment and some core symptoms of autism. We then outline the theoretical principles of neurorehabilitation strategies based on the mirror mechanism. We conclude by examining the relationship between the mirror mechanism and some features of the environmental dependency syndromes.

Posterior capsular fibrosis in professional baseball pitchers: case series of MR arthrographic findings in six patients with glenohumeral internal rotational deficit.

PubMed

Tehranzadeh, Arash D; Fronek, Jan; Resnick, Donald

2007-01-01

In the high-performance athlete, acquired thickening of the posterior joint capsule is a proposed etiology for glenohumeral internal rotational deficit (GIRD). The purpose of this study was to present our MR arthrographic imaging observations of posterior capsular thickening in professional baseball players who present with reduced throwing velocity related to pain and clinical findings of internal rotational deficit of the glenohumeral joint. Our observations of MR imaging features in patients with clinical and arthroscopic manifestations of GIRD lesions include articular surface partial thickness tears of the supraspinatus and infraspinatus tendons, superoposterior subluxation of the humeral head and SLAP tears of the labrum. Although no empiric standard currently exists for the axial dimension thickness of the shoulder capsule, we have observed a thickened appearance of the posterior band of the inferior glenohumeral ligament in these patients.

[Early diagnosis, variety of outcomes and prognosis of juvenile schizophrenia with over-value disorders of the "metaphysical intoxication" type onset (results of a late follow-up study)].

PubMed

Tsutsul'kovskaia, M Ia; Izvol'skiĭ, S A; Bol'zho, A G; Kopeĭko, G I

1986-01-01

On the basis of follow-up findings about juvenile schizophrenia first expressed in superworship manifestations according to the type of metaphysical intoxication (98 observations), the authors established that most frequently these cases were characterized by a torpid course of the disease in the framework of slowly progressing juvenile schizophrenia. There was a high rate of favourable outcomes at the level of "clinical recovery" (in 42.5%). Favourable prognostic signs were as follows: the complete nature of the clinical picture of the syndrome, its similarity to pubertal crisis manifestations, the absence in its structure of other positive disturbances and a number of specific features of the premorbid picture. The authors determined the pattern of correlation between the typological characteristics of the state of juvenile metaphysical intoxication and the outcome of the disease, peculiarities of manifestations of this phenomenon at the initial stage of psychotic forms of juvenile schizophrenia, as well as distinctive features of superworship formations according to the type of juvenile metaphysical intoxication observed in the framework of pubertal decompensation in schizoid psychopathies.

The prognostic value of CT radiomic features for patients with pulmonary adenocarcinoma treated with EGFR tyrosine kinase inhibitors

PubMed Central

Kim, Hyungjin; Park, Sang Joon; Kim, Miso; Kim, Tae Min; Kim, Dong-Wan; Heo, Dae Seog; Goo, Jin Mo

2017-01-01

Purpose To determine if the radiomic features on CT can predict progression-free survival (PFS) in epidermal growth factor receptor (EGFR) mutant adenocarcinoma patients treated with first-line EGFR tyrosine kinase inhibitors (TKIs) and to identify the incremental value of radiomic features over conventional clinical factors in PFS prediction. Methods In this institutional review board–approved retrospective study, pretreatment contrast-enhanced CT and first follow-up CT after initiation of TKIs were analyzed in 48 patients (M:F = 23:25; median age: 61 years). Radiomic features at baseline, at 1st first follow-up, and the percentage change between the two were determined. A Cox regression model was used to predict PFS with nonredundant radiomic features and clinical factors, respectively. The incremental value of radiomic features over the clinical factors in PFS prediction was also assessed by way of a concordance index. Results Roundness (HR: 3.91; 95% CI: 1.72, 8.90; P = 0.001) and grey-level nonuniformity (HR: 3.60; 95% CI: 1.80, 7.18; P<0.001) were independent predictors of PFS. For clinical factors, patient age (HR: 2.11; 95% CI: 1.01, 4.39; P = 0.046), baseline tumor diameter (HR: 1.03; 95% CI: 1.01, 1.05; P = 0.002), and treatment response (HR: 0.46; 95% CI: 0.24, 0.87; P = 0.017) were independent predictors. The addition of radiomic features to clinical factors significantly improved predictive performance (concordance index; combined model = 0.77, clinical-only model = 0.69, P<0.001). Conclusions Radiomic features enable PFS estimation in EGFR mutant adenocarcinoma patients treated with first-line EGFR TKIs. Radiomic features combined with clinical factors provide significant improvement in prognostic performance compared with using only clinical factors. PMID:29099855

[Clinical features of a Chinese pedigree with Waardenburg syndrome type 2].

PubMed

Yang, Shu-zhi; Yuan, Hui-jun; Bai, Lin-na; Cao, Ju-yang; Xu, Ye; Shen, Wei-dong; Ji, Fei; Yang, Wei-yan

2005-10-12

To investigate detailed clinical features of a Chinese pedigree with Waardenburg syndrome type 2. Members of this pedigree were interviewed to identify personal or family medical histories of hearing loss, the use of aminoglycosides, and other clinical abnormalities by filling questionnaire. The audiological and other clinical evaluations of the proband and other members of this family were conducted, including pure-tone audiometry, immittance and auditory brain-stem response and ophthalmological, dermatologic, hair, temporal bone CT examinations. This family is categorized as Waardenburg syndrome type 2 according to its clinical features. It's an autosomal dominant disorder with incomplete penetrance. The clinical features varied greatly among family members and characterized by sensorineural hearing loss, heterochromia irides, freckle on the face and premature gray hair. Hearing loss can be unilateral or bilateral, congenital or late onset in this family. This Chinese family has some unique clinical features comparing with the international diagnostic criteria for Waardenburg syndrome. This study may provide some evidences to amend the diagnostic criteria for Waardenburg syndrome in Chinese population.

NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms.

PubMed

Sobolewska, Bianka; Angermair, Eva; Deuter, Christoph; Doycheva, Deshka; Kuemmerle-Deschner, Jasmin; Zierhut, Manfred

2016-06-01

Cryopyrin-associated periodic syndrome (CAPS) is a group of inherited autoinflammatory disorders caused by mutations in the NLRP3 gene resulting in the overproduction of interleukin 1β. NLRP3 mutations cause a broad clinical phenotype of CAPS. The aims of the study were to evaluate clinical, laboratory, and genetic features of a 5-generation family with CAPS focusing in detail on ocular symptoms. In a retrospective observational cohort study, consecutive family members were screened for the presence of the NLRP3 mutation. Patients underwent standardized clinical, laboratory, and ophthalmological assessments. The genotype-specific risk of ophthalmological findings and other organ symptoms was determined. Twenty-nine patients were clinically affected. The A439V mutation encoded by exon 3 of the NLRP3 gene was found in 15 of 37 family members (41%). The most common clinical features were musculoskeletal symptoms, headaches, and ophthalmological symptoms. The mutation-positive patients were characterized by more frequent skin rashes, ocular symptoms, arthralgia, arthritis, and severe Muckle-Wells syndrome (MWS) Disease Activity Score. Rosacea was diagnosed in 8 patients. The NLRP3 mutation A439V is associated with a heterogeneous clinical spectrum of familial cold autoinflammatory syndrome/MWS-overlap syndrome. Skin rash and eye diseases, such as conjunctivitis and uveitis, were positively correlated with this mutation.

Mortality rate and clinical features of highly pathogenic avian influenza in naturally infected chickens in Bangladesh.

PubMed

Biswas, P K; Christensen, J P; Ahmed, S S U; Barua, H; Das, A; Rahman, M H; Giasuddin, M; Habib, M A; Hannan, A S M A; Debnath, N C

2011-12-01

A retrospective study was performed to assess the mortality rates and clinical signs in commercial and backyard chickens naturally infected with the highly pathogenic avian influenza (HPAI) H5N1 virus in Bangladesh. All of the 33 commercial and 25 backyard farms, recorded during the first wave of HPAI outbreaks (January to November 2007) in Bangladesh, were enrolled in this study. The farm profile data, stock information and major clinical signs recognised by the farmers and/or farm attendants, were collected through a prototype questionnaire. The investigating veterinarians' retrospective appraisals of the clinical signs were recorded by interview. After the clinical onset, the incidence rates of mortality in breeder, commercial broiler, commercial layer and backyard chickens were, respectively: 0.0215, 0.0341, 0.0179 and 0.0703 per chicken-day at risk. The four major clinical signs observed were cyanotic combs and wattles, oedema of the head and face, drowsiness and huddling and ecchymotic discoloration of the leg shanks. The first sign (cyanotic combs and wattles) was equally observed in chickens from commercial and backyard farms (p = 0.44) but the second (oedema of the head and face) was more common in backyard farms (p = 0.03).

Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.

PubMed

Petry, Patrícia; Polli, Janaina B; Mattos, Vinícius F; Rosa, Rosana C M; Zen, Paulo R G; Graziadio, Carla; Paskulin, Giorgio A; Rosa, Rafael F M

2013-06-01

Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The series was composed of patients with diagnosis of PS consecutively evaluated by a Clinical Genetics Service from a reference hospital of southern Brazil, in the period between 1975 and 2012. Statistical analysis was performed using PEPI program (version 4.0), with two-tailed Fisher's exact test for comparison of frequencies (P<0.05). The sample consisted of 30 patients, 60% male, median age at first evaluation of 9 days. Full trisomy of chromosome 13 was the main cytogenetic alteration (73%). The major clinical findings included: cryptorchidism (78%), abnormal auricles (77%), congenital heart defects (76%), polydactyly (63%), microphthalmia (60%) and micrognathia (50%). Four patients (13%) simultaneously had micro/anophthalmia, oral clefts and polydactyly. Some findings were only observed in our sample and included, among others, preauricular tags (10%), duplication of the hallux (3%) and spots following the lines of Blaschko (3%). Mosaicism (20% of cases) had a statistically significant association only with absence of cryptorchidism. The median of survival was 26 days. Patients with and without mosaicism had similar median of survival. Our findings, in agreement with the literature, show that the anomalies in patients with PS can be quite variable, sometimes even atypical. There is no pathognomonic finding, which may make the early identification of these patients challenging. Copyright © 2013 Wiley Periodicals, Inc.

Ischemic stroke lesion segmentation in multi-spectral MR images with support vector machine classifiers

NASA Astrophysics Data System (ADS)

Maier, Oskar; Wilms, Matthias; von der Gablentz, Janina; Krämer, Ulrike; Handels, Heinz

2014-03-01

Automatic segmentation of ischemic stroke lesions in magnetic resonance (MR) images is important in clinical practice and for neuroscientific trials. The key problem is to detect largely inhomogeneous regions of varying sizes, shapes and locations. We present a stroke lesion segmentation method based on local features extracted from multi-spectral MR data that are selected to model a human observer's discrimination criteria. A support vector machine classifier is trained on expert-segmented examples and then used to classify formerly unseen images. Leave-one-out cross validation on eight datasets with lesions of varying appearances is performed, showing our method to compare favourably with other published approaches in terms of accuracy and robustness. Furthermore, we compare a number of feature selectors and closely examine each feature's and MR sequence's contribution.

A Case of Churg-Strauss Syndrome Associated with Antiphospholipid Antibodies

PubMed Central

Ferenczi, Katalin; Chang, Timothy; Camouse, Melissa; Han, Rujing; Stern, Robert; Willis, Joseph; Cooper, Kevin D.; Gilliam, Anita C.

2008-01-01

BACKGROUND Churg-Strauss syndrome (CSS) is a systemic vasculitis affecting small and medium-sized blood vessels, almost invariably affecting the lung and frequently associated with cutaneous involvement. Microvascular vaso-occlusion leading to digital gangrene is not a feature of CSS. OBSERVATIONS We report an unusual case of a patient with Churg Strauss Syndrome with antiphospholipid antibodies who developed severe digital gangrene in addition to cutaneous vasculitis. CONCLUSION The presence of antiphospholipid antibodies is not a feature usually seen in association with Churg-Strauss syndrome. While the full clinical spectrum of Churg Strauss Syndrome is still being defined, identification of additional features associated with this syndrome might help to better understand the pathogenesis of the disease and to have an impact on management and prognosis. PMID:17175066

A model to characterize psychopathological features in adults with Prader-Willi syndrome.

PubMed

Thuilleaux, Denise; Laurier, Virginie; Copet, Pierre; Tricot, Julie; Demeer, Geneviève; Mourre, Fabien; Tauber, Maithé; Jauregi, Joseba

2018-01-01

High prevalence of behavioral and psychiatric disorders in adults with Prader-Willi Syndrome (PWS) has been reported in last few years. However, data are confusing and often contradictory. In this article, we propose a model to achieve a better understanding of the psychopathological features in adults with PWS. The study is based on clinical observations of 150 adult inpatients, males and females. Non-parametric statistics were performed to analyse the association of psychopathological profiles with genotype, gender and age. We propose a model of psychiatric disorders in adults with PWS based on cognitive, emotional and behavioural issues. This model defines four psychopathological profiles: Basic, Impulsive, Compulsive, and Psychotic. The Basic profile is defined by traits and symptoms that are present in varying degrees in all persons with PWS. In our cohort, this Basic profile corresponds to 55% of the patients. The rest show, in addition to these characteristics, salient features of impulsivity (Impulsive profile, 19%), compulsivity (Compulsive profile, 7%), or psychosis (Psychotic profile, 19%). The analysis of factors associated with different profiles reveals an effect of genotype on Basic and Psychotic profiles (Deletion: 70% Basic, 9% Psychotic; Non-deletion: 23% Basic, 43% Psychotic) and a positive correlation between male sex and impulsivity, unmediated by sex hormone treatment. This is a clinical study, based on observation proposing an original model to understand the psychiatric and behavioural disorders in adults with PWS. Further studies are needed in order to test the validity of this model. © 2017 Wiley Periodicals, Inc.

EHR based Genetic Testing Knowledge Base (iGTKB) Development

PubMed Central

2015-01-01

Background The gap between a large growing number of genetic tests and a suboptimal clinical workflow of incorporating these tests into regular clinical practice poses barriers to effective reliance on advanced genetic technologies to improve quality of healthcare. A promising solution to fill this gap is to develop an intelligent genetic test recommendation system that not only can provide a comprehensive view of genetic tests as education resources, but also can recommend the most appropriate genetic tests to patients based on clinical evidence. In this study, we developed an EHR based Genetic Testing Knowledge Base for Individualized Medicine (iGTKB). Methods We extracted genetic testing information and patient medical records from EHR systems at Mayo Clinic. Clinical features have been semi-automatically annotated from the clinical notes by applying a Natural Language Processing (NLP) tool, MedTagger suite. To prioritize clinical features for each genetic test, we compared odds ratio across four population groups. Genetic tests, genetic disorders and clinical features with their odds ratios have been applied to establish iGTKB, which is to be integrated into the Genetic Testing Ontology (GTO). Results Overall, there are five genetic tests operated with sample size greater than 100 in 2013 at Mayo Clinic. A total of 1,450 patients who was tested by one of the five genetic tests have been selected. We assembled 243 clinical features from the Human Phenotype Ontology (HPO) for these five genetic tests. There are 60 clinical features with at least one mention in clinical notes of patients taking the test. Twenty-eight clinical features with high odds ratio (greater than 1) have been selected as dominant features and deposited into iGTKB with their associated information about genetic tests and genetic disorders. Conclusions In this study, we developed an EHR based genetic testing knowledge base, iGTKB. iGTKB will be integrated into the GTO by providing relevant clinical evidence, and ultimately to support development of genetic testing recommendation system, iGenetics. PMID:26606281

EHR based Genetic Testing Knowledge Base (iGTKB) Development.

PubMed

Zhu, Qian; Liu, Hongfang; Chute, Christopher G; Ferber, Matthew

2015-01-01

The gap between a large growing number of genetic tests and a suboptimal clinical workflow of incorporating these tests into regular clinical practice poses barriers to effective reliance on advanced genetic technologies to improve quality of healthcare. A promising solution to fill this gap is to develop an intelligent genetic test recommendation system that not only can provide a comprehensive view of genetic tests as education resources, but also can recommend the most appropriate genetic tests to patients based on clinical evidence. In this study, we developed an EHR based Genetic Testing Knowledge Base for Individualized Medicine (iGTKB). We extracted genetic testing information and patient medical records from EHR systems at Mayo Clinic. Clinical features have been semi-automatically annotated from the clinical notes by applying a Natural Language Processing (NLP) tool, MedTagger suite. To prioritize clinical features for each genetic test, we compared odds ratio across four population groups. Genetic tests, genetic disorders and clinical features with their odds ratios have been applied to establish iGTKB, which is to be integrated into the Genetic Testing Ontology (GTO). Overall, there are five genetic tests operated with sample size greater than 100 in 2013 at Mayo Clinic. A total of 1,450 patients who was tested by one of the five genetic tests have been selected. We assembled 243 clinical features from the Human Phenotype Ontology (HPO) for these five genetic tests. There are 60 clinical features with at least one mention in clinical notes of patients taking the test. Twenty-eight clinical features with high odds ratio (greater than 1) have been selected as dominant features and deposited into iGTKB with their associated information about genetic tests and genetic disorders. In this study, we developed an EHR based genetic testing knowledge base, iGTKB. iGTKB will be integrated into the GTO by providing relevant clinical evidence, and ultimately to support development of genetic testing recommendation system, iGenetics.

Recognition of hypochondriasis in a clinic for sexually transmitted disease.

PubMed Central

Frost, D P

1985-01-01

A descriptive study of 100 consecutive patients referred for psychiatric assessment from a clinic for sexually transmitted disease (STD) is reported. Thirty six patients presented with physical symptoms for which no organic cause could be found. Various physical and psychological features of the overall presentation of this "somatic" group were identified. These are discussed in terms of diagnostic categories, aetiological mechanisms, and theories of illness behaviour. The importance of directly observable aspects of the patients' consultation behaviour is stressed over and above deep psychological constructs. The diagnosis of hypochondriasis is seen as essentially a medical one, which entails the doctor making a set of judgements that require a broad clinical perspective. PMID:3838530

Optic Neuritis: Another Dickensian Diagnosis

PubMed Central

Petzold, Axel

2013-01-01

Abstract The clinical diagnosis and natural history of optic neuritis was established in the late 1880s by the ophthalmologists von Graefe and Nettleship. The earlier, accurate and insightful description of transient, bilateral visual loss of Esther, the main character in the Charles Dickens novel Bleak House (1852--1853), suggests optic neuritis as a Dickensian diagnosis. Remarkably, Dickens’ observations, also preceding the earliest clinical description of multiple sclerosis by Charcot in 1868, described many clinical features such as a prodromal phase; a nadir; gradual recovery over weeks; glare disability; reduced contrast sensitivity; possibly Uhthoff’s phenomenon; and visual fading. All this with an accuracy that, to quote Russell Brain, “would credit a trained physician.” PMID:28167994

Partial epilepsy and 47,XXX karyotype: report of four cases.

PubMed

Roubertie, Agathe; Humbertclaude, Véronique; Leydet, Julie; Lefort, Geneviève; Echenne, Bernard

2006-07-01

Epilepsy is a common finding in chromosomal imbalances, but only a few chromosome abnormalities have a characteristic electro-clinical pattern. Trisomy X is one of the most common sex chromosome abnormalities in females, and is associated with considerable phenotypic variability. This report describes four 47,XXX females with mental deficiency and epilepsy. Although a specific electro-clinical pattern could not be defined, the epileptic phenotypes of these patients share many features; we suggest that the association 47,XXX/epilepsy/mental retardation may not be coincidental. This report also enlarges the clinical spectrum of the 47,XXX phenotype. Moreover, these observations highlight the critical role of chromosome X in epilepsy and mental retardation.

One year in review 2016: Behçet's syndrome.

PubMed

Hatemi, Gulen; Seyahi, Emire; Fresko, Izzet; Talarico, Rosaria; Hamuryudan, Vedat

2016-01-01

Several articles highlighting the epidemiology, pathogenesis, clinical features, treatment modalities and disease assessment of Behçet's syndrome (BS) have been published during the last year. Clinical and radiological features of lower extremity deep vein thrombosis due to BS can be quite different than those found in thrombosis due to other causes; additionally, frequency of post-thrombotic syndrome is significantly increased in BS. Some clinical and colonoscopic features are useful in differentiating BS from Crohn's disease. Barkhof criteria may be helpful in differentiating neurologic involvement due to BS from multiple sclerosis. Anatomical localization of papulopustular lesions but not histology has been found to be helpful in differentiating papulopustular lesions of BS from those found in acne vulgaris. Several studies looked at the ovarian reserve with contradicting results. A population-based cohort study found higher risk of hematological malignancies only among female BS patients living in Taiwan. The role of genetic factors and environment is discussed and both autoimmune and autoinflammatory features are underlined in the pathogenesis of BS. New data on the epistatic interactions between ERAP and HLA B51 is available and information on the microbiome have started to appear. New uncontrolled data suggest beneficial effects of anti-TNFs for refractory extra-ocular complications of BS such as pulmonary artery, gastrointestinal and central nervous system involvement. Uncontrolled studies suggest promising results with interleukin-1 inhibition but gevokizumab, a humanised anti IL-1β antibody, failed to meet the primary endpoint of time to first ocular exacerbation in a phase III trial. The debate on anticoagulation continues with new observational data.

The Relative Importance of Family History, Gender, Mode of Onset, and Age at Onsetin Predicting Clinical Features of First-Episode Psychotic Disorders.

PubMed

Compton, Michael T; Berez, Chantal; Walker, Elaine F

Family history of psychosis, gender, mode of onset, and age at onset are considered prognostic factors important to clinicians evaluating first-episode psychosis; yet, clinicians have little guidance as to how these four factors differentially predict early-course substance abuse, symptomatology, and functioning. We conducted a "head-to-head comparison" of these four factors regarding their associations with key clinical features at initial hospitalization. We also assessed potential interactions between gender and family history with regard to age at onset of psychosis and symptom severity. Consecutively admitted first-episode patients (n=334) were evaluated in two studies that rigorously assessed a number of early-course variables. Associations among variables of interest were examined using Pearson correlations, χ 2 tests, Student's t-tests, and 2×2 factorial analyses of variance. Substance (nicotine, alcohol, and cannabis) abuse and positive symptom severity were predicted only by male gender. Negative symptom severity and global functioning impairments were predicted by earlier age at onset of psychosis. General psychopathology symptom severity was predicted by both mode of onset and age at onset. Interaction effects were not observed with regard to gender and family history in predicting age at onset or symptom severity. The four prognostic features have differential associations with substance abuse, domains of symptom severity, and global functioning. Gender and age at onset of psychosis appear to be more predictive of clinical features at the time of initial evaluation (and thus presumably longer term outcomes) than the presence of a family history of psychosis and a more gradual mode of onset.

Endomyocardial fibrosis in Sudan: clinical and echocardiographic features

PubMed Central

Khalil, Siddiq Ibrahim; Khalil, Suha; El Tigani, Salma; Saad, Hanan A

2017-01-01

Summary Objective: Endomyocardial fibrosis (EMF) is a rare disease and is often an underdiagnosed and forgotten cardiomyopathy. The objective of this study was to document the current frequency of EMF in Sudan by defining and selecting cases from patients attending the echocardiography laboratory. Additionally we aimed to create an EMF registry for Sudan. Methods: The study started in January 2007 and is on-going. All the patients attending our echocardiography clinics in four different hospitals in Khartoum, Sudan, were included. Transthoracic echocardiography was used as the main diagnostic and selection tool. The diagnosis of EMF was based on predefined criteria and definitions, and was further supported by additional clinical, ECG, laboratory and chest X-ray findings. Results: Out of 4 332 cases studied, 23 (0.5%) were found to have features of EMF. Females constituted 52% and the age range was 24 to 67 years. All patients presented with dyspnoea grades III–IV. Advanced heart failure with gross fluid overload was seen in 54% of cases and ascites was seen in 30%. EMF was biventricular in 53%, left ventricular in 29% and right ventricular in 18% of cases. Apical and ventricular wall fibrosis was found in all cases, followed by atrial enlargement, atrioventricular valve incompetence, ventricular cavity obliteration, restrictive flow pattern and pericardial effusion. Additional echocardiographic features are defined and discussed. Conclusion: Although a rare disease, cases of EMF can be identified in Sudan if a high index of suspicion is observed. New echocardiographic features of ventricular wall layering, endocardial fibrous shelf and endomyocardiopericarial fibrosis were identified and are discussed. PMID:28906536

Haemochromatosis: unexplained metacarpophalangeal or ankle arthropathy should prompt diagnostic tests: findings from two UK observational cohort studies.

PubMed

Richardson, A; Prideaux, A; Kiely, P

2017-01-01

To examine demographic and clinical features leading to the diagnosis of hereditary haemochromatosis and assess factors that might enhance earlier diagnosis, with particular attention to arthritic symptoms. Diagnostic features were captured directly from patients with haemochromatosis attending a specialist rheumatology clinic (group 1) and from analysis of a specifically designed questionnaire circulated to members of the UK Haemochromatosis Society (group 2). In groups 1 (n = 62) and 2 (n = 470), respectively, the diagnosis of haemochromatosis was made at a mean age of 52.8 and 56.4 years with 77% and 76% reporting joint symptoms with a mean duration of 8.3 and 8.1 years. The first joints to be affected in group 1 were the metacarpophalangeal (MCP; 38.5%) and ankle (29.5%) followed by the knee, hip, and proximal interphalangeal (PIP) joints. At the time of clinical assessment or questionnaire completion, the most prevalent regions with arthropathy in group 1 were PIP (64.5%), knee (64%), ankle (61%), and MCP (60%) and in group 2 the most prevalent joint regions self-reported were the first carpometacarpal (CMC; 59%), wrist (52%), PIP (47%), MCP (46%), knee (42%), and ankle (35%). Data from both cohorts confirm the high prevalence of joint symptoms in haemochromatosis predating the diagnosis by many years. Discriminatory features of the arthropathy include the involvement of MCP joints and ankles at a relatively young age in the absence of trauma, all of which are unusual features of primary osteoarthritis (OA). The finding of this presentation should prompt diagnostic tests for haemochromatosis.

Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium.

PubMed

Bonkovsky, Herbert L; Maddukuri, Vinaya C; Yazici, Cemal; Anderson, Karl E; Bissell, D Montgomery; Bloomer, Joseph R; Phillips, John D; Naik, Hetanshi; Peter, Inga; Baillargeon, Gwen; Bossi, Krista; Gandolfo, Laura; Light, Carrie; Bishop, David; Desnick, Robert J

2014-12-01

Recent descriptions of the clinical and laboratory features of subjects with acute porphyrias in the US are lacking. Our aim was to describe clinical, biochemical, and genetic features of 108 subjects. Between September 2010 and December 2012, 108 subjects with acute porphyrias (90 acute intermittent porphyrias, 9 hereditary coproporphyrias, 9 variegate porphyrias) were enrolled into an observational study. Genetic testing was performed at a central genetic testing laboratory and clinical information entered into a central database. Selected features were compared with data for adults in the US. Most subjects (88/108, 81%) were female, with self-reported onset of symptoms in the second through fourth decades of life. The most common symptom was abdominal pain. Appendectomies and cholecystectomies were common before a diagnosis of porphyria. The diagnosis was delayed by a mean of 15 years. Anxiety and depression were common, and 18% complained of chronic symptoms, especially neuropathic and other pains. The incidences of systemic arterial hypertension, chronic kidney disease, seizure disorders, and psychiatric conditions were markedly increased. Mutations of the known causative genes were found in 102/105 of those tested, with novel mutations being found in 37, including in 7/8 subjects with hereditary coproporphyria. Therapy with intravenous hematin was the most effective therapy both for treatment of acute attacks and for prevention of recurrent attacks. Acute porphyrias often remain undiagnosed for more than a decade after first symptoms develop. Intravenous hematin is the treatment of choice, both for treatment of acute attacks and for prevention of recurrent attacks. Copyright © 2014 Elsevier Inc. All rights reserved.

Changes in enterovirus serotype constituent ratios altered the clinical features of infected children in Guangdong Province, China, from 2010 to 2013.

PubMed

Zhou, Hong-Tao; Guo, Yong-Hui; Chen, Man-Jun; Pan, Yu-Xian; Xue, Lin; Wang, Bin; Tao, Shao-Hua; Yu, Nan

2016-08-09

Enterovirus (EV)-related hand, foot, and mouth disease/herpangina (HFMD/HA) has been prevalent in Guangdong Province, China, since 2010. Clinical data for EV-related HFMD/HA inpatients admitted to the Department of Paediatrics of Zhujiang Hospital from 2010 to 2013 were retrospectively reviewed. The corresponding EV serotypes were also determined by reverse transcription-polymerase chain reaction or BLAST analysis of the sequenced partial lengths of the viral protein1/5'-untranslated region. A total of 867 eligible inpatients admitted during 2010-2013 were included in the study. Of these, the serotype of the responsible EV was successfully identified in 824 cases. The incidence of enterovirus 71 (EV71) infection amongst pediatric HFMD/HA inpatients decreased dramatically from 55.5 % in 2010 to 8.1 % in 2013, with a similar decrease recorded for coxsackievirus A16 (CVA16). However, the incidence of non-EV71/CVA16 infection increased from 30.0 % in 2010 to 83.8 % in 2013. We noted that the types of infection caused by different EV serotypes varied: EV71 was responsible for 100 % of the paralysis cases (26/26), 84.6 % of the deaths (11/13), and 84.1 % of cases with severe central nervous system involvement (SCNSI) (74/88); echovirus contributed to 16.4 % of the deaths (2/13) and 4.4 % of the SCNSI cases; and coxsackievirus accounted for only 2.2 % of the SCNSI cases (2/90). The clinical features of HFMD/HA cases varied greatly during the time period examined, with drastic changes in the hospitalization rates (45.1, 63.7, 36.4, and 19.1 % for 2010, 2011, 2012, and 21013, respectively), mortality rates (2.3, 0.9, 2.5, and 0.0 %, respectively), paralysis (5.1, 1.2, 5.4, and 0.0 %, respectively), SCNSI (16.8, 7.1, 12.7, and 2.2 %, respectively), and acute respiratory infection (21.1, 22.0, 45.9, and 59.0 %, respectively). The incidences of infection caused by different EV serotypes, along with the clinical features of HFMD/HA cases, changed drastically in Guangdong Province, China, from 2010 to 2013, with the biggest changes observed in 2013. The changed constituent ratios of the different EV serotypes might therefore be responsible for the differences in the observed clinical features of HFMD/HA during this period.

Observational Research Opportunities and Limitations

PubMed Central

Boyko, Edward J.

2013-01-01

Medical research continues to progress in its ability to identify treatments and characteristics associated with benefits and adverse outcomes. The principle engine for the evaluation of treatment efficacy is the randomized controlled trial (RCT). Due to the cost and other considerations, RCTs cannot address all clinically important decisions. Observational research often is used to address issues not addressed or not addressable by RCTs. This article provides an overview of the benefits and limitations of observational research to serve as a guide to the interpretation of this category of research designs in diabetes investigations. The potential for bias is higher in observational research but there are design and analysis features that can address these concerns although not completely eliminate them. Pharmacoepidemiologic research may provide important information regarding relative safety and effectiveness of diabetes pharmaceuticals. Such research must effectively address the important issue of confounding by indication in order to produce clinically meaningful results. Other methods such as instrumental variable analysis are being employed to enable stronger causal inference but these methods also require fulfillment of several key assumptions that may or may not be realistic. Nearly all clinical decisions involve probabilistic reasoning and confronting uncertainly, so a realistic goal for observational research may not be the high standard set by RCTs but instead the level of certainty needed to influence a diagnostic or treatment decision. PMID:24055326

Observational research--opportunities and limitations.

PubMed

Boyko, Edward J

2013-01-01

Medical research continues to progress in its ability to identify treatments and characteristics associated with benefits and adverse outcomes. The principal engine for the evaluation of treatment efficacy is the randomized controlled trial (RCT). Due to the cost and other considerations, RCTs cannot address all clinically important decisions. Observational research often is used to address issues not addressed or not addressable by RCTs. This article provides an overview of the benefits and limitations of observational research to serve as a guide to the interpretation of this category of research designs in diabetes investigations. The potential for bias is higher in observational research but there are design and analysis features that can address these concerns although not completely eliminate them. Pharmacoepidemiologic research may provide important information regarding relative safety and effectiveness of diabetes pharmaceuticals. Such research must effectively address the important issue of confounding by indication in order to produce clinically meaningful results. Other methods such as instrumental variable analysis are being employed to enable stronger causal inference but these methods also require fulfillment of several key assumptions that may or may not be realistic. Nearly all clinical decisions involve probabilistic reasoning and confronting uncertainly, so a realistic goal for observational research may not be the high standard set by RCTs but instead the level of certainty needed to influence a diagnostic or treatment decision. © 2013.

Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.

PubMed

Rossi, Mari; El-Khechen, Dima; Black, Mary Helen; Farwell Hagman, Kelly D; Tang, Sha; Powis, Zöe

2017-05-01

Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date. We performed diagnostic exome sequencing in a cohort of 163 individuals with autism spectrum disorder (66.3%) or autistic features (33.7%). The diagnostic yield observed in patients in our cohort was 25.8% (42 of 163) for positive or likely positive findings in characterized disease genes, while a candidate genetic etiology was reported for an additional 3.3% (4 of 120) of patients. Among the positive findings in the patients with autism spectrum disorder or autistic features, 61.9% were the result of de novo mutations. Patients presenting with psychiatric conditions or ataxia or paraplegia in addition to autism spectrum disorder or autistic features were significantly more likely to receive positive results compared with patients without these clinical features (95.6% vs 27.1%, P < 0.0001; 83.3% vs 21.2%, P < 0.0001, respectively). The majority of the positive findings were in recently identified autism spectrum disorder genes, supporting the importance of diagnostic exome sequencing for patients with autism spectrum disorder or autistic features as the causative genes might evade traditional sequential or panel testing. These results suggest that diagnostic exome sequencing would be an efficient primary diagnostic method for patients with autism spectrum disorders or autistic features. Moreover, our data may aid clinicians to better determine which subset of patients with autism spectrum disorder with additional clinical features would benefit the most from diagnostic exome sequencing. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

A phantom design for assessment of detectability in PET imaging

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wollenweber, Scott D., E-mail: scott.wollenweber@g

2016-09-15

Purpose: The primary clinical role of positron emission tomography (PET) imaging is the detection of anomalous regions of {sup 18}F-FDG uptake, which are often indicative of malignant lesions. The goal of this work was to create a task-configurable fillable phantom for realistic measurements of detectability in PET imaging. Design goals included simplicity, adjustable feature size, realistic size and contrast levels, and inclusion of a lumpy (i.e., heterogeneous) background. Methods: The detection targets were hollow 3D-printed dodecahedral nylon features. The exostructure sphere-like features created voids in a background of small, solid non-porous plastic (acrylic) spheres inside a fillable tank. The featuresmore » filled at full concentration while the background concentration was reduced due to filling only between the solid spheres. Results: Multiple iterations of feature size and phantom construction were used to determine a configuration at the limit of detectability for a PET/CT system. A full-scale design used a 20 cm uniform cylinder (head-size) filled with a fixed pattern of features at a contrast of approximately 3:1. Known signal-present and signal-absent PET sub-images were extracted from multiple scans of the same phantom and with detectability in a challenging (i.e., useful) range. These images enabled calculation and comparison of the quantitative observer detectability metrics between scanner designs and image reconstruction methods. The phantom design has several advantages including filling simplicity, wall-less contrast features, the control of the detectability range via feature size, and a clinically realistic lumpy background. Conclusions: This phantom provides a practical method for testing and comparison of lesion detectability as a function of imaging system, acquisition parameters, and image reconstruction methods and parameters.« less

A Clinical Data Warehouse Based on OMOP and i2b2 for Austrian Health Claims Data.

PubMed

Rinner, Christoph; Gezgin, Deniz; Wendl, Christopher; Gall, Walter

2018-01-01

To develop simulation models for healthcare related questions clinical data can be reused. Develop a clinical data warehouse to harmonize different data sources in a standardized manner and get a reproducible interface for clinical data reuse. The Kimball life cycle for the development of data warehouse was used. The development is split into the technical, the data and the business intelligence pathway. Sample data was persisted in the Observational Medical Outcomes Partnership (OMOP) Common Data Model (CDM). The i2b2 clinical data warehouse tools were used to query the OMOP CDM by applying the new i2b2 multi-fact table feature. A clinical data warehouse was set up and sample data, data dimensions and ontologies for Austrian health claims data were created. The ability of the standardized data access layer to create and apply simulation models will be evaluated next.

Clinical features and course of ocular toxocariasis in adults.

PubMed

Ahn, Seong Joon; Woo, Se Joon; Jin, Yan; Chang, Yoon-Seok; Kim, Tae Wan; Ahn, Jeeyun; Heo, Jang Won; Yu, Hyeong Gon; Chung, Hum; Park, Kyu Hyung; Hong, Sung Tae

2014-06-01

To investigate the clinical features, clinical course of granuloma, serologic findings, treatment outcome, and probable infection sources in adult patients with ocular toxocariasis (OT). In this retrospective cohort study, we examined 101 adult patients diagnosed clinically and serologically with OT. Serial fundus photographs and spectral domain optical coherence tomography images of all the patients were reviewed. A clinic-based case-control study on pet ownership, occupation, and raw meat ingestion history was performed to investigate the possible infection sources. Among the patients diagnosed clinically and serologically with OT, 69.6% showed elevated immunoglobulin E (IgE) levels. Granuloma in OT involved all retinal layers and several vitreoretinal comorbidities were noted depending on the location of granuloma: posterior pole granuloma was associated with epiretinal membrane and retinal nerve fiber layer defects, whereas peripheral granuloma was associated with vitreous opacity. Intraocular migration of granuloma was observed in 15 of 93 patients (16.1%). Treatment with albendazole (400 mg twice a day for 2 weeks) and corticosteroids (oral prednisolone; 0.5-1 mg/kg/day) resulted in comparable outcomes to patients on corticosteroid monotherapy; however, the 6-month recurrence rate in patients treated with combined therapy (17.4%) was significantly lower than that in patients treated with corticosteroid monotherapy (54.5%, P=0.045). Ingestion of raw cow liver (80.8%) or meat (71.2%) was significantly more common in OT patients than healthy controls. Our study discusses the diagnosis, treatment, and prevention strategies for OT. Evaluation of total IgE, in addition to anti-toxocara antibody, can assist in the serologic diagnosis of OT. Combined albendazole and corticosteroid therapy may reduce intraocular inflammation and recurrence. Migrating feature of granuloma is clinically important and may further suggest the diagnosis of OT. Clinicians need to carefully examine comorbid conditions for OT. OT may be associated with ingestion of uncooked meat, especially raw cow liver, in adult patients.

Clinical Features and Course of Ocular Toxocariasis in Adults

PubMed Central

Ahn, Seong Joon; Woo, Se Joon; Jin, Yan; Chang, Yoon-Seok; Kim, Tae Wan; Ahn, Jeeyun; Heo, Jang Won; Yu, Hyeong Gon; Chung, Hum; Park, Kyu Hyung; Hong, Sung Tae

2014-01-01

Purpose To investigate the clinical features, clinical course of granuloma, serologic findings, treatment outcome, and probable infection sources in adult patients with ocular toxocariasis (OT). Methods In this retrospective cohort study, we examined 101 adult patients diagnosed clinically and serologically with OT. Serial fundus photographs and spectral domain optical coherence tomography images of all the patients were reviewed. A clinic-based case-control study on pet ownership, occupation, and raw meat ingestion history was performed to investigate the possible infection sources. Results Among the patients diagnosed clinically and serologically with OT, 69.6% showed elevated immunoglobulin E (IgE) levels. Granuloma in OT involved all retinal layers and several vitreoretinal comorbidities were noted depending on the location of granuloma: posterior pole granuloma was associated with epiretinal membrane and retinal nerve fiber layer defects, whereas peripheral granuloma was associated with vitreous opacity. Intraocular migration of granuloma was observed in 15 of 93 patients (16.1%). Treatment with albendazole (400 mg twice a day for 2 weeks) and corticosteroids (oral prednisolone; 0.5–1 mg/kg/day) resulted in comparable outcomes to patients on corticosteroid monotherapy; however, the 6-month recurrence rate in patients treated with combined therapy (17.4%) was significantly lower than that in patients treated with corticosteroid monotherapy (54.5%, P = 0.045). Ingestion of raw cow liver (80.8%) or meat (71.2%) was significantly more common in OT patients than healthy controls. Conclusions Our study discusses the diagnosis, treatment, and prevention strategies for OT. Evaluation of total IgE, in addition to anti-toxocara antibody, can assist in the serologic diagnosis of OT. Combined albendazole and corticosteroid therapy may reduce intraocular inflammation and recurrence. Migrating feature of granuloma is clinically important and may further suggest the diagnosis of OT. Clinicians need to carefully examine comorbid conditions for OT. OT may be associated with ingestion of uncooked meat, especially raw cow liver, in adult patients. PMID:24922534

Light-induced autofluorescence and diffuse reflectance spectroscopy in clinical diagnosis of skin cancer

NASA Astrophysics Data System (ADS)

Borisova, E.; Pavlova, E.; Kundurjiev, T.; Troyanova, P.; Genova, Ts.; Avramov, L.

2014-05-01

We investigated more than 500 clinical cases to receive the spectral properties of basal cell (136 patients) and squamous cell carcinoma (28), malignant melanoma (41) and different cutaneous dysplastic and benign cutaneous lesions. Excitation at 365, 385 and 405 nm using LEDs sources is applied to obtain autofluorescence spectra, and broad-band illumination in the region of 400-900 nm is used to detect diffuse reflectance spectra of all pathologies investigated. USB4000 microspectrometer (Ocean Optics Inc, USA) is applied as a detector and fiber-optic probe is used for delivery of the light. In the case of in vivo tumor measurements spectral shape and intensity changes are observed that are specific for a given type of lesion. Autofluorescence origins of the signals coming from skin tissues are mainly due to proteins, such as collagen, elastin, keratin, their cross-links, co-enzimes - NADH and flavins and endogenous porphyrins. Spectral features significant into diffuse spectroscopy diagnosis are related to the effects of re-absorption of hemoglobin and its forms, as well as melanin and its concentration in different pathologies. We developed significant database and revealed specific features for a large class of cutaneous neoplasia, using about 30 different spectral peculiarities to differentiate cutaneous tumors. Sensitivity and specificity obtained exceed 90%, which make optical biopsy very useful tool for clinical practice. These results are obtained in the frames of clinical investigations for development of significant "spectral features" database for the most common cutaneous malignant, dysplastic and benign lesions. In the forthcoming plans, our group tries to optimize the existing experimental system for optical biopsy of skin, and to introduce it and the diagnostic algorithms developed into clinical practice, based on the high diagnostic accuracy achieved.

Lyme disease: a rigorous review of diagnostic criteria and treatment.

PubMed

Borchers, Andrea T; Keen, Carl L; Huntley, Arthur C; Gershwin, M Eric

2015-02-01

Lyme disease was originally identified in Lyme, Connecticut, based upon an unusual cluster of what appeared to be patients with juvenile rheumatoid arthritis. It was subsequently identified as a new clinical entity originally called Lyme arthritis based on the observation that arthritis was a major clinical feature. However, Lyme arthritis is now called Lyme disease based upon the understanding that the clinical features include not only arthritis, but also potential cardiac, dermatologic and neurologic findings. Lyme disease typically begins with an erythematous rash called erythema migrans (EM). Approximately 4-8% of patients develop cardiac, 11% develop neurologic and 45-60% of patients manifest arthritis. The disease is transmitted following exposure to a tick bite containing a spirochete in a genetically susceptible host. There is considerable data on spirochetes, including Borrelia burgdorferi (Bb), the original bacteria identified in this disease. Lyme disease, if an organism had not been identified, would be considered as a classic autoimmune disease and indeed the effector mechanisms are similar to many human diseases manifest as loss of tolerance. The clinical diagnosis is highly likely based upon appropriate serology and clinical manifestations. However, the serologic features are often misinterpreted and may have false positives if confirmatory laboratory testing is not performed. Antibiotics are routinely and typically used to treat patients with Lyme disease, but there is no evidence that prolonged or recurrent treatment with antibiotics change the natural history of Lyme disease. Although there are animal models of Lyme disease, there is no system that faithfully recapitulates the human disease. Further research on the effector mechanisms that lead to pathology in some individuals should be further explored to develop more specific therapy. Copyright © 2014 Elsevier Ltd. All rights reserved.

[Pulmonary reaction after furazidin (Furagin). Case report].

PubMed

Zielonka, T M; Demkow, U; Kuś, J

1997-05-01

For the first time in Poland we present the case of pulmonary reaction to furazidin which is by chemical structure closely related to nitrofurantoin. 63 years old woman presented generalized symptoms of acute hypersensitivity reaction induced by furazidin as well as features of chronic pulmonary fibrosis. After few months of treatment with this drug patients complained of weight loss, dyspnea on effort, non-productive cough, chills and fever. Radiological and functional evaluation of respiratory system confirmed features of lung fibrosis. Drug provocation test was positive. In vitro furazidin in low concentrations stimulated proliferation of patient's lymphocytes. After cessation of treatment we have observed rapid improvement of clinical, radiological, biochemical and functional parameters.

Physician acceptance of the IRIS user interface during a clinical trial at the Ottawa Civic Hospital

NASA Astrophysics Data System (ADS)

Coristine, Marjorie; Beeton, Carolyn; Tombaugh, Jo W.; Ahuja, J.; Belanger, Garry; Dillon, Richard F.; Currie, Shawn; Hind, E.

1990-07-01

During a clinical trial, emergency physicians and radiologists at the Ottawa Civic Hospital used IRIS (Integrated Radiological Information System) to process patients' x-rays, requisitions, and reports, and to have consultations, for 319 active cases. This paper discusses IRIS user interface issues raised during the clinical trial. The IRIS workstation consists of three major system components: 1) an image screen for viewing and enhancing images; 2) a control screen for presenting patient information, selecting images, and executing commands; and 3) a hands-free telephone for reporting activities and consultations. The control screen and hands-free telephone user interface allow physicians to navigate through patient files, select images and access reports, enter new reports, and perform remote consultations. Physicians were observed using the system during the trial and responded to questions about the user interface on an extensive debriefing interview after the trial. Overall, radiologists and emergency physicians were satisfied with IRIS control screen functionality and user interface. In a number of areas radiologists and emergency physicians differed in their user interface needs. Some features were found to be acceptable to one group of physicians but required modification to meet the needs of the other physician group. The data from the interviews, along with the comments from radiologists and emergency physicians provided important information for the revision of some features, and for the evolution of new features.

Classification of clinically useful sentences in clinical evidence resources.

PubMed

Morid, Mohammad Amin; Fiszman, Marcelo; Raja, Kalpana; Jonnalagadda, Siddhartha R; Del Fiol, Guilherme

2016-04-01

Most patient care questions raised by clinicians can be answered by online clinical knowledge resources. However, important barriers still challenge the use of these resources at the point of care. To design and assess a method for extracting clinically useful sentences from synthesized online clinical resources that represent the most clinically useful information for directly answering clinicians' information needs. We developed a Kernel-based Bayesian Network classification model based on different domain-specific feature types extracted from sentences in a gold standard composed of 18 UpToDate documents. These features included UMLS concepts and their semantic groups, semantic predications extracted by SemRep, patient population identified by a pattern-based natural language processing (NLP) algorithm, and cue words extracted by a feature selection technique. Algorithm performance was measured in terms of precision, recall, and F-measure. The feature-rich approach yielded an F-measure of 74% versus 37% for a feature co-occurrence method (p<0.001). Excluding predication, population, semantic concept or text-based features reduced the F-measure to 62%, 66%, 58% and 69% respectively (p<0.01). The classifier applied to Medline sentences reached an F-measure of 73%, which is equivalent to the performance of the classifier on UpToDate sentences (p=0.62). The feature-rich approach significantly outperformed general baseline methods. This approach significantly outperformed classifiers based on a single type of feature. Different types of semantic features provided a unique contribution to overall classification performance. The classifier's model and features used for UpToDate generalized well to Medline abstracts. Copyright © 2016 Elsevier Inc. All rights reserved.

Using GIS for spatial analysis of rectal lesions in the human body.

PubMed

Garb, Jane L; Ganai, Sabha; Skinner, Ric; Boyd, Christopher S; Wait, Richard B

2007-03-15

Geographic Information Systems (GIS) have been used in a wide variety of applications to integrate data and explore the spatial relationship of geographic features. Traditionally this has referred to features on the surface of the earth. However, it is possible to apply GIS in medicine, at the scale of the human body, to visualize and analyze anatomic and clinical features. In the present study we used GIS to examine the findings of transanal endoscopic microsurgery (TEM), a minimally-invasive procedure to locate and remove both benign and cancerous lesions of the rectum. Our purpose was to determine whether anatomic features of the human rectum and clinical findings at the time of surgery could be rendered in a GIS and spatially analyzed for their relationship to clinical outcomes. Maps of rectal topology were developed in two and three dimensions. These maps highlight anatomic features of the rectum and the location of lesions found on TEM. Spatial analysis demonstrated a significant relationship between anatomic location of the lesion and procedural failure. This study demonstrates the feasibility of rendering anatomical locations and clinical events in a GIS and its value in clinical research. This allows the visualization and spatial analysis of clinical and pathologic features, increasing our awareness of the relationship between anatomic features and clinical outcomes as well as enhancing our understanding and management of this disease process.

Using GIS for spatial analysis of rectal lesions in the human body

PubMed Central

Garb, Jane L; Ganai, Sabha; Skinner, Ric; Boyd, Christopher S; Wait, Richard B

2007-01-01

Background Geographic Information Systems (GIS) have been used in a wide variety of applications to integrate data and explore the spatial relationship of geographic features. Traditionally this has referred to features on the surface of the earth. However, it is possible to apply GIS in medicine, at the scale of the human body, to visualize and analyze anatomic and clinical features. In the present study we used GIS to examine the findings of transanal endoscopic microsurgery (TEM), a minimally-invasive procedure to locate and remove both benign and cancerous lesions of the rectum. Our purpose was to determine whether anatomic features of the human rectum and clinical findings at the time of surgery could be rendered in a GIS and spatially analyzed for their relationship to clinical outcomes. Results Maps of rectal topology were developed in two and three dimensions. These maps highlight anatomic features of the rectum and the location of lesions found on TEM. Spatial analysis demonstrated a significant relationship between anatomic location of the lesion and procedural failure. Conclusion This study demonstrates the feasibility of rendering anatomical locations and clinical events in a GIS and its value in clinical research. This allows the visualization and spatial analysis of clinical and pathologic features, increasing our awareness of the relationship between anatomic features and clinical outcomes as well as enhancing our understanding and management of this disease process. PMID:17362510

Partial dependence of breast tumor malignancy on ultrasound image features derived from boosted trees

NASA Astrophysics Data System (ADS)

Yang, Wei; Zhang, Su; Li, Wenying; Chen, Yaqing; Lu, Hongtao; Chen, Wufan; Chen, Yazhu

2010-04-01

Various computerized features extracted from breast ultrasound images are useful in assessing the malignancy of breast tumors. However, the underlying relationship between the computerized features and tumor malignancy may not be linear in nature. We use the decision tree ensemble trained by the cost-sensitive boosting algorithm to approximate the target function for malignancy assessment and to reflect this relationship qualitatively. Partial dependence plots are employed to explore and visualize the effect of features on the output of the decision tree ensemble. In the experiments, 31 image features are extracted to quantify the sonographic characteristics of breast tumors. Patient age is used as an external feature because of its high clinical importance. The area under the receiver-operating characteristic curve of the tree ensembles can reach 0.95 with sensitivity of 0.95 (61/64) at the associated specificity 0.74 (77/104). The partial dependence plots of the four most important features are demonstrated to show the influence of the features on malignancy, and they are in accord with the empirical observations. The results can provide visual and qualitative references on the computerized image features for physicians, and can be useful for enhancing the interpretability of computer-aided diagnosis systems for breast ultrasound.

Neuropathies in the setting of Neurofibromatosis tumor syndromes: Complexities and opportunities.

PubMed

Schulz, Alexander; Grafe, Peter; Hagel, Christian; Bäumer, Philipp; Morrison, Helen; Mautner, Victor-Felix; Farschtschi, Said

2018-01-01

The term 'Neurofibromatosis' (NF) comprises a group of rare diseases with related clinical presentations but distinct genetic conditions. All currently known types - NF1, NF2 and Schwannomatosis - predispose afflicted individuals to the development of glial cell-derived (gliogenic) tumors. Furthermore, the occurrence of neuropathic symptoms, which add to the overall neurologic disability of patients, has been described in all disease entities. We show that neuropathic symptoms are a common and clinically important, yet infrequently studied feature in the NF spectrum. However, the clinical relevance and respective underlying pathogenesis, varies greatly among the different NF types. In this review, we summarize and interpret the latest basic research findings, as well as clinical observations, in respect of Neurofibromatosis-associated neuropathies. Copyright © 2017 Elsevier Inc. All rights reserved.

Run-Reversal Equilibrium for Clinical Trial Randomization

PubMed Central

Grant, William C.

2015-01-01

In this paper, we describe a new restricted randomization method called run-reversal equilibrium (RRE), which is a Nash equilibrium of a game where (1) the clinical trial statistician chooses a sequence of medical treatments, and (2) clinical investigators make treatment predictions. RRE randomization counteracts how each investigator could observe treatment histories in order to forecast upcoming treatments. Computation of a run-reversal equilibrium reflects how the treatment history at a particular site is imperfectly correlated with the treatment imbalance for the overall trial. An attractive feature of RRE randomization is that treatment imbalance follows a random walk at each site, while treatment balance is tightly constrained and regularly restored for the overall trial. Less predictable and therefore more scientifically valid experiments can be facilitated by run-reversal equilibrium for multi-site clinical trials. PMID:26079608

Tyrosine kinase gene rearrangements in epithelial malignancies

PubMed Central

Shaw, Alice T.; Hsu, Peggy P.; Awad, Mark M.; Engelman, Jeffrey A.

2014-01-01

Chromosomal rearrangements that lead to oncogenic kinase activation are observed in many epithelial cancers. These cancers express activated fusion kinases that drive the initiation and progression of malignancy, and often have a considerable response to small-molecule kinase inhibitors, which validates these fusion kinases as ‘druggable’ targets. In this Review, we examine the aetiologic, pathogenic and clinical features that are associated with cancers harbouring oncogenic fusion kinases, including anaplastic lymphoma kinase (ALK), ROS1 and RET. We discuss the clinical outcomes with targeted therapies and explore strategies to discover additional kinases that are activated by chromosomal rearrangements in solid tumours. PMID:24132104

[Prader-Willi syndrome].

PubMed

Beccaria, L; Bosio, L; Benzi, F; Bregani, P; Achutegui, I; Chiumello, G; Livieri, C; Trifirò, G; de Toni, T; Iughetti, L; Ragusa, L; Salvatoni, A; Tonini, G; Corrias, A; Crinò, A

1999-01-01

Prader-Willi syndrome (PWS) is the most frequent cause of secondary obesity, characterized by neonatal hypotonia, dysmorphic facies, acromicria, hypogonadism, stunted growth, obesity, behavioural disturbances and cognitive impairment. Clinical diagnosis is confirmed by alteration of imprinted genes on the proximal long arm of chromosome 15 (15q11-13) for deletion, translocation, uniparental disomy for maternal chromosome 15 or imprinting center defect. Methylation test is the most reliable test for diagnosis. This issue explains diagnostic tests, clinical, metabolic, endocrinological features, and the most frequent complications observed in this syndrome. Precocious diagnosis and multidisciplinary approach allow in these patients to prevent the severe obesity and linked complications.

Clinical Features of Newly Diagnosed Cytomegalovirus Retinitis in Northern Thailand

PubMed Central

Ausayakhun, Somsanguan; Keenan, Jeremy D; Ausayakhun, Sakarin; Jirawison, Choeng; Khouri, Claire M; Skalet, Alison H; Heiden, David; Holland, Gary N; Margolis, Todd P

2011-01-01

Purpose To characterize the clinical manifestations of cytomegalovirus (CMV) retinitis in northern Thailand. Design Prospective, observational cross-sectional study. Methods We recorded characteristics of 52 consecutive patients newly diagnosed with CMV retinitis at a tertiary university-based medical center in northern Thailand. Indirect ophthalmoscopy by experienced ophthalmologists was supplemented with fundus photography to determine the proportion of eyes with various clinical features of CMV retinitis. Results Of the 52 patients with CMV retinitis, 55.8% were female. All were HIV-positive. The vast majority (90.4%) had started antiretroviral therapy. CMV retinitis was bilateral in 46.2% of patients. Bilateral visual acuity worse than 20/60 was observed in 23.1% of patients. Of 76 eyes with CMV retinitis, 61.8% had zone I disease and 21.6% had lesions involving the fovea. Lesions larger than 25% of the retinal area were observed in 57.5% of affected eyes. CMV retinitis lesions commonly had marked or severe border opacity (47.4% of eyes). Vitreous haze was often present (46.1% of eyes). Visual impairment was more common in eyes with larger retinitis lesions. Retinitis lesion size, used as a proxy for duration of disease, was associated with fulminant appearance (OR 1.24 [1.01 – 1.51]), and marked or severe border opacity (OR 1.36 [1.11 – 1.67]). Based on lesion size, retinitis preceded antiretroviral treatment in each patient. Conclusions Patients presenting to a tertiary medical center in northern Thailand have advanced CMV retinitis, possibly due to delayed diagnosis. Earlier screening and treatment of CMV retinitis may limit progression of disease and prevent visual impairment in this population. PMID:22265148

A one-year prospective study of refractory status epilepticus in Modena, Italy.

PubMed

Giovannini, Giada; Monti, Giulia; Polisi, Michela M; Mirandola, Laura; Marudi, Andrea; Pinelli, Giovanni; Valzania, Franco; Girardis, Massimo; Nichelli, Paolo F; Meletti, Stefano

2015-08-01

Refractory status epilepticus (RSE) is a particular critical condition characterized by seizures that continue despite the use of first- and second-line therapies and by high mortality. To date, only one prospective study investigated clinical features and prognostic factors in RSE. In this study, we performed a one-year prospective survey to identify clinical features, outcomes, and variables associated with the development of RSE in the adolescent and adult population of Modena, northern Italy. We observed 83 episodes of SE in 83 patients. In 31% of the cases, third-line therapy (anesthetic drug) was needed. Among this group, 14% resolved and were classified as RSE, while, in 17%, seizures recurred at withdrawal of anesthetics and were classified as super-RSE. The development of RSE/super-RSE was associated with a stuporous/comatose state at presentation and with the absence of a previous history of epilepsy. Refractory status epilepticus/super-refractory status epilepticus showed a worse outcome compared with responsive SE: 54% versus 21% for 30-day mortality; 19% versus 56% for a return to baseline condition. This prospective study confirms stupor/coma at onset as a relevant clinical factor associated with SE refractoriness. We observed a rate of RSE comparable with previous reports, with high mortality and morbidity. Mortality in the observed RSE was higher than in previous studies; this result is probably related to the low rate of a previous epilepsy history in our population that reflects a high incidence of acute symptomatic etiologies, especially the inclusion of patients with postanoxic SE who have a bad prognosis per se. This article is part of a Special Issue entitled "Status Epilepticus". Copyright © 2015 Elsevier Inc. All rights reserved.

Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.

PubMed

Fanous, Ayman H; Zhou, Baiyu; Aggen, Steven H; Bergen, Sarah E; Amdur, Richard L; Duan, Jubao; Sanders, Alan R; Shi, Jianxin; Mowry, Bryan J; Olincy, Ann; Amin, Farooq; Cloninger, C Robert; Silverman, Jeremy M; Buccola, Nancy G; Byerley, William F; Black, Donald W; Freedman, Robert; Dudbridge, Frank; Holmans, Peter A; Ripke, Stephan; Gejman, Pablo V; Kendler, Kenneth S; Levinson, Douglas F

2012-12-01

Multiple sources of evidence suggest that genetic factors influence variation in clinical features of schizophrenia. The authors present the first genome-wide association study (GWAS) of dimensional symptom scores among individuals with schizophrenia. Based on the Lifetime Dimensions of Psychosis Scale ratings of 2,454 case subjects of European ancestry from the Molecular Genetics of Schizophrenia (MGS) sample, three symptom factors (positive, negative/disorganized, and mood) were identified with exploratory factor analysis. Quantitative scores for each factor from a confirmatory factor analysis were analyzed for association with 696,491 single-nucleotide polymorphisms (SNPs) using linear regression, with correction for age, sex, clinical site, and ancestry. Polygenic score analysis was carried out to determine whether case and comparison subjects in 16 Psychiatric GWAS Consortium (PGC) schizophrenia samples (excluding MGS samples) differed in scores computed by weighting their genotypes by MGS association test results for each symptom factor. No genome-wide significant associations were observed between SNPs and factor scores. Most of the SNPs producing the strongest evidence for association were in or near genes involved in neurodevelopment, neuroprotection, or neurotransmission, including genes playing a role in Mendelian CNS diseases, but no statistically significant effect was observed for any defined gene pathway. Finally, polygenic scores based on MGS GWAS results for the negative/disorganized factor were significantly different between case and comparison subjects in the PGC data set; for MGS subjects, negative/disorganized factor scores were correlated with polygenic scores generated using case-control GWAS results from the other PGC samples. The polygenic signal that has been observed in cross-sample analyses of schizophrenia GWAS data sets could be in part related to genetic effects on negative and disorganized symptoms (i.e., core features of chronic schizophrenia).

Visual Aggregate Analysis of Eligibility Features of Clinical Trials

PubMed Central

He, Zhe; Carini, Simona; Sim, Ida; Weng, Chunhua

2015-01-01

Objective To develop a method for profiling the collective populations targeted for recruitment by multiple clinical studies addressing the same medical condition using one eligibility feature each time. Methods Using a previously published database COMPACT as the backend, we designed a scalable method for visual aggregate analysis of clinical trial eligibility features. This method consists of four modules for eligibility feature frequency analysis, query builder, distribution analysis, and visualization, respectively. This method is capable of analyzing (1) frequently used qualitative and quantitative features for recruiting subjects for a selected medical condition, (2) distribution of study enrollment on consecutive value points or value intervals of each quantitative feature, and (3) distribution of studies on the boundary values, permissible value ranges, and value range widths of each feature. All analysis results were visualized using Google Charts API. Five recruited potential users assessed the usefulness of this method for identifying common patterns in any selected eligibility feature for clinical trial participant selection. Results We implemented this method as a Web-based analytical system called VITTA (Visual Analysis Tool of Clinical Study Target Populations). We illustrated the functionality of VITTA using two sample queries involving quantitative features BMI and HbA1c for conditions “hypertension” and “Type 2 diabetes”, respectively. The recruited potential users rated the user-perceived usefulness of VITTA with an average score of 86.4/100. Conclusions We contributed a novel aggregate analysis method to enable the interrogation of common patterns in quantitative eligibility criteria and the collective target populations of multiple related clinical studies. A larger-scale study is warranted to formally assess the usefulness of VITTA among clinical investigators and sponsors in various therapeutic areas. PMID:25615940

Visual aggregate analysis of eligibility features of clinical trials.

PubMed

He, Zhe; Carini, Simona; Sim, Ida; Weng, Chunhua

2015-04-01

To develop a method for profiling the collective populations targeted for recruitment by multiple clinical studies addressing the same medical condition using one eligibility feature each time. Using a previously published database COMPACT as the backend, we designed a scalable method for visual aggregate analysis of clinical trial eligibility features. This method consists of four modules for eligibility feature frequency analysis, query builder, distribution analysis, and visualization, respectively. This method is capable of analyzing (1) frequently used qualitative and quantitative features for recruiting subjects for a selected medical condition, (2) distribution of study enrollment on consecutive value points or value intervals of each quantitative feature, and (3) distribution of studies on the boundary values, permissible value ranges, and value range widths of each feature. All analysis results were visualized using Google Charts API. Five recruited potential users assessed the usefulness of this method for identifying common patterns in any selected eligibility feature for clinical trial participant selection. We implemented this method as a Web-based analytical system called VITTA (Visual Analysis Tool of Clinical Study Target Populations). We illustrated the functionality of VITTA using two sample queries involving quantitative features BMI and HbA1c for conditions "hypertension" and "Type 2 diabetes", respectively. The recruited potential users rated the user-perceived usefulness of VITTA with an average score of 86.4/100. We contributed a novel aggregate analysis method to enable the interrogation of common patterns in quantitative eligibility criteria and the collective target populations of multiple related clinical studies. A larger-scale study is warranted to formally assess the usefulness of VITTA among clinical investigators and sponsors in various therapeutic areas. Copyright © 2015 Elsevier Inc. All rights reserved.

Testicular feminization in the Finnish racoon dog (Nyctereutes procyonoides).

PubMed

Smith, A; Nes, N; Berg, K A; Valtonen, M; Mäkinen, A; Lukola, A

1983-12-01

The clinical features of testicular feminization in the racoon dog (Nyctereutes procyonoides) are reported. The condition is characterized by a normal male karyotype, but a mixed phenotype consisting of vulva, enlarged clitoris and scrotal testes. Partial spermatogenesis with a relative arrest at the first meiotic division was observed. The likely underlying genetic defect and mode of inheritance are discussed, together with implications for breeding programmes.

Simpson-Golabi-Behmel syndrome types I and II.

PubMed

Tenorio, Jair; Arias, Pedro; Martínez-Glez, Víctor; Santos, Fernando; García-Miñaur, Sixto; Nevado, Julián; Lapunzina, Pablo

2014-09-20

Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. Abnormalities of the skeletal system, heart, central nervous system, kidney, and gastrointestinal tract may also be observed. Intellectual disability, early motor milestones and speech delay are sometimes present; however, there are a considerable number of individuals with normal intelligence.

Evaluation of facial expression in acute pain in cats.

PubMed

Holden, E; Calvo, G; Collins, M; Bell, A; Reid, J; Scott, E M; Nolan, A M

2014-12-01

To describe the development of a facial expression tool differentiating pain-free cats from those in acute pain. Observers shown facial images from painful and pain-free cats were asked to identify if they were in pain or not. From facial images, anatomical landmarks were identified and distances between these were mapped. Selected distances underwent statistical analysis to identify features discriminating pain-free and painful cats. Additionally, thumbnail photographs were reviewed by two experts to identify discriminating facial features between the groups. Observers (n = 68) had difficulty in identifying pain-free from painful cats, with only 13% of observers being able to discriminate more than 80% of painful cats. Analysis of 78 facial landmarks and 80 distances identified six significant factors differentiating pain-free and painful faces including ear position and areas around the mouth/muzzle. Standardised mouth and ear distances when combined showed excellent discrimination properties, correctly differentiating pain-free and painful cats in 98% of cases. Expert review supported these findings and a cartoon-type picture scale was developed from thumbnail images. Initial investigation into facial features of painful and pain-free cats suggests potentially good discrimination properties of facial images. Further testing is required for development of a clinical tool. © 2014 British Small Animal Veterinary Association.

Hepatic Histological Findings in Suspected Drug-Induced Liver Injury: Systematic Evaluation and Clinical Associations

PubMed Central

Kleiner, David E; Chalasani, Naga P; Lee, William M; Fontana, Robert J; Bonkovsky, Herbert L; Watkins, Paul B; Hayashi, Paul H; Davern, Timothy J; Navarro, Victor; Reddy, Rajender; Talwalkar, Jayant A; Stolz, Andrew; Gu, Jiezhun; Barnhart, Huiman; Hoofnagle, Jay H

2014-01-01

Drug-induced liver injury (DILI) is considered to be a diagnosis of exclusion. Liver biopsy may contribute to diagnostic accuracy, but the histological features of DILI and their relationship to biochemical parameters and outcomes are not well defined. We have classified the pathological pattern of liver injury and systematically evaluated histological changes in liver biopsies obtained from 249 patients with suspected DILI enrolled in the prospective, observational study conducted by the Drug Induced Liver Injury Network. Histological features were analyzed for their frequency within different clinical phenotypes of liver injury and to identify associations between clinical and laboratory findings and histological features. The most common histological patterns were acute (21%) and chronic hepatitis (14%), acute (9%) and chronic cholestasis (10%), and cholestatic hepatitis (29%). Liver histology from 128 patients presenting with hepatocellular injury had more severe inflammation, necrosis, and apoptosis and more frequently demonstrated lobular disarray, rosette formation, and hemorrhage than those with cholestasis. Conversely, histology of the 73 patients with cholestatic injury more often demonstrated bile plugs and duct paucity. Severe or fatal hepatic injury in 46 patients was associated with higher degrees of necrosis, fibrosis stage, microvesicular steatosis, and ductular reaction among other findings, whereas eosinophils and granulomas were found more often in those with milder injury. Conclusion: We describe an approach for evaluating liver histology in DILI and demonstrate numerous associations between pathological findings and clinical presentations that may serve as a foundation for future studies correlating DILI pathology with its causality and outcome. (Hepatology 2014;59:661–670) PMID:24037963

Empirical Support for DSM-IV Schizoaffective Disorder: Clinical and Cognitive Validators from a Large Patient Sample

PubMed Central

DeRosse, Pamela; Burdick, Katherine E.; Lencz, Todd; Siris, Samuel G.; Malhotra, Anil K.

2013-01-01

Objective The diagnosis of schizoaffective disorder has long maintained an uncertain status in psychiatric nosology. Studies comparing clinical and biological features of patients with schizoaffective disorder to patients with related disorders [e.g., schizophrenia and bipolar disorder] can provide an evidence base for judging the validity of the diagnostic category. However, because most prior studies of schizoaffective disorder have only evaluated differences between groups at a static timepoint, it is unclear how these disorders may be related when the entire illness course is taken into consideration. Methods We ascertained a large cohort [N = 993] of psychiatric patients with a range of psychotic diagnoses including schizophrenia with no history of major affective episodes [SZ−; N = 371], schizophrenia with a superimposed mood syndrome [SZ+; N = 224], schizoaffective disorder [SAD; N = 129] and bipolar I disorder with psychotic features [BPD+; N = 269]. Using cross-sectional data we designed key clinical and neurocognitive dependent measures that allowed us to test longitudinal hypotheses about the differences between these diagnostic entities. Results Large differences between diagnostic groups on several demographic and clinical variables were observed. Most notably, groups differed on a putative measure of cognitive decline. Specifically, the SAD group demonstrated significantly greater post-onset cognitive decline compared to the BP+ group, with the SZ− and SZ+ group both exhibiting levels of decline intermediate to BPD+ and SAD. Conclusions These results suggest that schizoaffective disorder may possess distinct features. Contrary to earlier formulations, schizoaffective disorder may be a more severe form of illness. PMID:23737946

Empirical support for DSM-IV schizoaffective disorder: clinical and cognitive validators from a large patient sample.

PubMed

DeRosse, Pamela; Burdick, Katherine E; Lencz, Todd; Siris, Samuel G; Malhotra, Anil K

2013-01-01

The diagnosis of schizoaffective disorder has long maintained an uncertain status in psychiatric nosology. Studies comparing clinical and biological features of patients with schizoaffective disorder to patients with related disorders [e.g., schizophrenia and bipolar disorder] can provide an evidence base for judging the validity of the diagnostic category. However, because most prior studies of schizoaffective disorder have only evaluated differences between groups at a static timepoint, it is unclear how these disorders may be related when the entire illness course is taken into consideration. We ascertained a large cohort [N = 993] of psychiatric patients with a range of psychotic diagnoses including schizophrenia with no history of major affective episodes [SZ-; N = 371], schizophrenia with a superimposed mood syndrome [SZ+; N = 224], schizoaffective disorder [SAD; N = 129] and bipolar I disorder with psychotic features [BPD+; N = 269]. Using cross-sectional data we designed key clinical and neurocognitive dependent measures that allowed us to test longitudinal hypotheses about the differences between these diagnostic entities. Large differences between diagnostic groups on several demographic and clinical variables were observed. Most notably, groups differed on a putative measure of cognitive decline. Specifically, the SAD group demonstrated significantly greater post-onset cognitive decline compared to the BP+ group, with the SZ- and SZ+ group both exhibiting levels of decline intermediate to BPD+ and SAD. These results suggest that schizoaffective disorder may possess distinct features. Contrary to earlier formulations, schizoaffective disorder may be a more severe form of illness.

Prevalence and Correlates of Rest Tremor in Essential Tremor: Cross-Sectional Survey of 831 Patients Across Four Distinct Cohorts

PubMed Central

Louis, Elan D.; Hernandez, Nora; Michalec, Monika

2015-01-01

Background Essential tremor (ET) is among the most commonly encountered neurological disorders. Its hallmark feature is kinetic tremor. However, other tremors may also occur in ET patients, creating considerable diagnostic confusion among treating physicians. Hence, characterizing the prevalence and clinical accompaniments of these other tremors is of value. Surprisingly, there are few data on the prevalence of rest tremor in ET patients, and even fewer data on the clinical correlates of such tremor. Methods 831 patients in four distinct settings (population, genetics study, study of environmental epidemiology, brain bank) underwent a detailed videotaped neurological examination that was reviewed by a senior movement disorders neurologist. Rest tremor was evaluated in several positions (seated, standing, lying down). Results The prevalence of rest tremor while seated or standing was lowest in the population-based setting (1.9%), highest in the brain bank study (46.4%), and intermediate in the remaining two settings (9.6% and 14.7%, respectively). Rest tremor was restricted to the arms and was not observed in the legs. Rest tremor was associated with older age, longer disease duration (in some studies), greater tremor severity and, to some extent, the presence of cranial tremors. Conclusions Rest tremor can be a common clinical feature of ET. Its prevalence is highly dependent on the setting in which patients are evaluated, ranging from as low as 1% to nearly 50%. Rest tremor seems to emerge as a clinical feature with advancing disease. The anatomical substrates for this type of tremor remain unknown at present. PMID:25786561

Mitochondrial pyruvate carrier function is negatively linked to Warburg phenotype in vitro and malignant features in esophageal squamous cell carcinomas

PubMed Central

Li, Yaqing; Li, Xiaoran; Kan, Quancheng; Zhang, Mingzhi; Li, Xiaoli; Xu, Ruiping; Wang, Junsheng; Yu, Dandan; Goscinski, Mariusz Adam; Wen, Jian-Guo; Nesland, Jahn M.; Suo, Zhenhe

2017-01-01

Aerobic glycolysis is one of the emerging hallmarks of cancer cells. In this study, we investigated the relationship between blocking mitochondrial pyruvate carrier (MPC) with MPC blocker UK5099 and the metabolic alteration as well as aggressive features of esophageal squamous carcinoma. It was found that blocking pyruvate transportation into mitochondria attenuated mitochondrial oxidative phosphorylation (OXPHOS) and triggered aerobic glycolysis, a feature of Warburg effect. In addition, the HIF-1α expression and ROS production were also activated upon UK5099 application. It was further revealed that the UK5099-treated cells became significantly more resistant to chemotherapy and radiotherapy, and the UK5099-treated tumor cells also exhibited stronger invasive capacity compared to the parental cells. In contrast to esophageal squamous epithelium cells, decreased MPC protein expression was observed in a series of 157 human squamous cell carcinomas, and low/negative MPC1 expression predicted an unfavorable clinical outcome. All these results together revealed the potential connection of altered MPC expression/activity with the Warburg metabolic reprogramming and tumor aggressiveness in cell lines and clinical samples. Collectively, our findings highlighted a therapeutic strategy targeting Warburg reprogramming of human esophageal squamous cell carcinomas. PMID:27911865

Failure analysis of ceramic clinical cases using qualitative fractography.

PubMed

Scherrer, Susanne S; Quinn, Janet B; Quinn, George D; Kelly, J Robert

2006-01-01

To educate dental academic staff and clinicians on the application of descriptive (qualitative) fractography for analyses of clinical and laboratory failures of brittle materials such as glass and ceramic. The fracture surface topography of failed glass, glass fiber-reinforced composite, and ceramic restorations (Procera, Cerestore, In-Ceram, porcelain-fused-to-metal) was examined utilizing a scanning electron microscope. Replicas and original failed parts were scrutinized for classic fractographic features such as hackle, wake hackle, twist hackle, arrest lines, and mirrors. Failed surfaces of the veneering porcelain of ceramic and porcelain-fused-to-metal crowns exhibited hackle, wake hackle, twist hackle, arrest lines, and compression curl, which were produced by the interaction of the advancing crack with the microstructure of the material. Fracture surfaces of glass and glass fiber-reinforced composite showed additional features, such as velocity hackle and mirrors. The observed features were good indicators of the local direction of crack propagation and were used to trace the crack back to an initial starting area (the origin). Examples of failure analysis in this study are intended to guide the researcher in using qualitative (descriptive) fractography as a tool for understanding the failure process in brittle restorative materials and also for assessing possible design inadequacies.

Early-Onset Psychoses: Comparison of Clinical Features and Adult Outcome in 3 Diagnostic Groups

ERIC Educational Resources Information Center

Ledda, Maria Giuseppina; Fratta, Anna Lisa; Pintor, Manuela; Zuddas, Alessandro; Cianchetti, Carlo

2009-01-01

A comparison of clinical features and adult outcome in adolescents with three types of psychotic disorders: schizophrenic (SPh), schizoaffective (SA) and bipolar with psychotic features (BPP). Subjects (n = 41) were finally diagnosed (DSM-IV criteria) with SPh (n = 17), SA (n = 11) or BPP (n = 13). Clinical evaluation took place at onset and at a…

Clinicopathologic analysis of 21 cases of nevus sebaceus: a retrospective study.

PubMed

Simi, C M; Rajalakshmi, T; Correa, Marjorie

2008-01-01

Nevus sebaceus (NS), otherwise designated as 'organoid nevus', involves proliferative changes of the sebaceous glands, sweat glands, and the hair follicles. It displays a range of appearances, depending on the lesion's age. To study the histopathological features of NS and correlate these with clinical findings. All skin biopsy specimens over a 12-year period from 1995 to 2007 which had a diagnosis of NS were included. Clinical data with follow-up notes and histopathology were reviewed. Half of the cases had a verrucous clinical appearance, while the rest presented as papules, plaques, or patches. All the cases showed immature hair follicles, and 24% of cases showed immature sebaceous glands. Normal terminal hair follicles were characteristically absent in the lesion. Nineteen percent of the cases showed dilated apocrine glands, and 14% showed hyperplasia of eccrine glands. Epidermal changes in the form of acanthosis, papillomatosis, and hyperkeratosis were seen in 86% of cases. Dilated keratin-filled infundibula were observed in 24% of cases. One case was associated with a squamous cell carcinoma. Nevus sebaceus is a cutaneous hamartoma, consisting of various elements indigenous to the organ. Normal terminal hair follicles are characteristically absent in the lesion although the same may be seen in rest of the epidermis, a feature of diagnostic importance, not usually highlighted in literature. The divergent differentiation observed in NS is consistent with the common embryologic origin of the folliculosebaceous-apocrine unit and should not mislead the pathologist.

Malaria in paradise: characterization of imported cases in Gran Canaria Island (1993-2006).

PubMed

Espinosa-Vega, Elizabeth; Martín-Sánchez, Antonio Manuel; Elcuaz-Romano, Rosa; Hernández-Febles, Melisa; Molina-Cabrillana, Jesús; Pérez-Arellano, Jose Luis

2011-01-01

Spain obtained the official certificate of malaria eradication in 1964. However, imported malaria cases have been increasing during the last few decades in this country. This study aims to describe the clinical and epidemiological features of patients diagnosed with malaria on Gran Canaria Island. A retrospective study was conducted based on case review of all patients diagnosed with malaria microbiologically confirmed from 1993 to 2006, at the three referral teaching hospitals on Gran Canaria Island. One hundred eighty-four episodes in 181 patients were diagnosed, 170 of them were analyzed. Most of them (82%) were travelers. Nearly 15% (14.7%) declared having had some chemoprophylaxis, but only half of them completed the treatment. Twenty cases (10.9%) were diagnosed who had just arrived as immigrants, mainly children. Malaria was acquired in Africa by 94.7% of the cases and Plasmodium falciparum was responsible for the majority of the cases (84.1%). Clinical and epidemiological differences were observed among different groups of patients formed by their origin and travel purposes. At least one indicator of severe malaria was established in 22.9% of the cases. However, global mortality was 3.8%. Malaria in Gran Canaria Island is imported from endemic areas, mainly from African countries, observed mostly among young adult males, but clinical and epidemiological features may change among different groups of patients. The number of immigrants diagnosed with malaria is increasing in this area nowadays. © 2011 International Society of Travel Medicine.

Disease features in horses with induced equine monocytic ehrlichiosis (Potomac horse fever).

PubMed

Dutta, S K; Penney, B E; Myrup, A C; Robl, M G; Rice, R M

1988-10-01

Fifty-five horses were inoculated IV and/or SC with materials containing Ehrlichia risticii, ie, infected whole blood, buffy coat cells, or cell culture, to study clinical and hematologic features of equine monocytic ehrlichiosis (Potomac horse fever). Major clinical and hematologic features of induced E risticii infection were biphasic increase in rectal temperature with peak increases of 38.9 C and 39.3 C on postinoculation days (PID) 5 and 12, respectively; depression; anorexia; decreased WBC count (maximal decrease of 47% on PID 12); and diarrhea from PID 14 to PID 18. Increased WBC count was an inconsistent feature, with a maximal increase of 51.5% on PID 20. During times of decreased and increased WBC counts, lymphocyte/neutrophil ratios remained fairly constant. However, not all horses had all clinical and hematologic features, and these features were present in different degrees among horses. Increased rectal temperature, depression, anorexia, and decreased WBC count were more consistent features, whereas diarrhea developed in 73% of the horses. Of 55 horses, 39 (71%) had all clinical and hematologic features of the disease (classic disease), whereas 16 (29%) horses did not have greater than or equal to 1 of these features (nonclassic disease). The E risticii titer in the blood (ehrlichemia) was maximum during the peak increase in rectal temperature. In 55 horses, mortality was 9%. Significant differences (P greater than 0.5) in clinical and hematologic features were not detected between horses that survived and those that died of E risticii infection.

Clinical patterns of cutaneous nontuberculous mycobacterial infections.

PubMed

Bartralot, R; García-Patos, V; Sitjas, D; Rodríguez-Cano, L; Mollet, J; Martín-Casabona, N; Coll, P; Castells, A; Pujol, R M

2005-04-01

Cutaneous nontuberculous mycobacterial infections result from external inoculation, spread of a deeper infection, or haematogenous spread of a disseminated infection. There are two species-specific infections (fish-tank or swimming-pool granuloma, due to Mycobacterium marinum, and Buruli ulcer, caused by M. ulcerans). Most infections, however, produce a nonspecific clinical picture. To define clinical patterns of cutaneous disease in nontuberculous mycobacterial infections. Fifty-one patients with cutaneous nontuberculous mycobacterial infections were reviewed. Clinical and histopathological features of normal hosts and immunosuppressed patients were compared. Two subgroups of immunosuppressed patients were distinguished: patients with cutaneous infection and patients with a disseminated infection and cutaneous involvement. In immunosuppressed patients the number of lesions was significantly higher. Abscesses and ulceration were also more frequently observed. Different species were found in normal hosts and immunosuppressed patients. Several clinical patterns of cutaneous infection were defined: lymphocutaneous or sporotrichoid lesions; nonlymphocutaneous lesions at the site of trauma; folliculitis and furunculosis involving the lower extremities; disseminated lesions on the extremities in immunosuppressed patients. Two patterns were observed in patients with a disseminated infection: localized cutaneous lesions and disseminated cutaneous and mucosal lesions. Cutaneous manifestations of nontuberculous mycobacterial infections may be classified according to criteria such as cutaneous lesions and immune status.

Bone imaging of the heel in Reiter's syndrome. [/sup 99m/Tc-pyrophosphate

DOE Office of Scientific and Technical Information (OSTI.GOV)

Khalkhali, I.; Stadalnik, R.C.; Wiesner, K.B.

1979-01-01

Classic Reiter's syndrome, which affects young adult males, is characterized by arthritis, conjunctivitis, and nongonococcal urethritis. Other features of probably equal significance include circinate balanitis, shallow ulcerations of the buccal mucosa, and a dermatitis. Reiter's arthritis is usually asymmetrical and tends to involve lower extremity joints. Talalgia, or heel pain, is an often underrated characteristic feature of the arthritis. With an incidence of 50% talalgia can be localized to either the posterior aspect of the heel or to the plantar surface of the heel. Radiographic alterations in these regions are common in patients with recurrent or chronic disease, but aremore » infrequent or minimal in patients with acute Reiter's syndrome. Recent observation of a young male with Reiter's syndrome suggests that bone imaging may help substantiate this clinical feature before radiography reveals calcaneal spurs.« less

Expression profiling of cutaneous squamous cell carcinoma with perineural invasion implicates the p53 pathway in the process.

PubMed

Warren, Timothy A; Broit, Natasa; Simmons, Jacinta L; Pierce, Carly J; Chawla, Sharad; Lambie, Duncan L J; Quagliotto, Gary; Brown, Ian S; Parsons, Peter G; Panizza, Benedict J; Boyle, Glen M

2016-09-26

Squamous cell carcinoma (SCC) is the second most common cancer worldwide and accounts for approximately 30% of all keratinocyte cancers. The vast majority of cutaneous SCCs of the head and neck (cSCCHN) are readily curable with surgery and/or radiotherapy unless high-risk features are present. Perineural invasion (PNI) is recognized as one of these high-risk features. The molecular changes during clinical PNI in cSCCHN have not been previously investigated. In this study, we assessed the global gene expression differences between cSCCHN with or without incidental or clinical PNI. The results of the analysis showed signatures of gene expression representative of activation of p53 in tumors with PNI compared to tumors without, amongst other alterations. Immunohistochemical staining of p53 showed cSCCHN with clinical PNI to be more likely to exhibit a diffuse over-expression pattern, with no tumors showing normal p53 staining. DNA sequencing of cSCCHN samples with clinical PNI showed no difference in mutation number or position with samples without PNI, however a significant difference was observed in regulators of p53 degradation, stability and activity. Our results therefore suggest that cSCCHN with clinical PNI may be more likely to contain alterations in the p53 pathway, compared to cSCCHN without PNI.

Ebola outbreak in Conakry, Guinea: epidemiological, clinical, and outcome features.

PubMed

Barry, M; Traoré, F A; Sako, F B; Kpamy, D O; Bah, E I; Poncin, M; Keita, S; Cisse, M; Touré, A

2014-12-01

The authors studied the epidemiological, clinical, and outcome features of the Ebola virus disease in patients hospitalized at the Ebola treatment center (ETC) in Conakry to identify clinical factors associated with death. A prospective study was conducted from March 25 to August 20, 2014. The diagnosis of Ebola virus infection was made on real-time PCR. Ninety patients, with a positive test result, were hospitalized. Their mean age was 34.12±14.29 years and 63% were male patients. Most worked in the informal sector (38%) and in the medical and paramedical staff (physicians 12%, nurses 6%, and laboratory technicians 1%). Most patients lived in the Conakry suburbs (74%) and in Boffa (11%). The main clinical signs were physical asthenia (80%) and fever (72%). Hemorrhagic signs were observed in 26% of patients. The comparison of clinical manifestations showed that hiccups (P=0.04), respiratory distress (P=0.04), and hemorrhagic symptoms (P=0.01) were more frequent among patients who died. Malaria (72%) and diabetes (2%) were the most frequent co-morbidities. The crude case fatality rate was 44% [95% confidence interval (33-54%)]. The average hospital stay was 7.96±5.81 days. The first Ebola outbreak in Conakry was characterized by the young age of patients, discrete hemorrhagic signs related to lethality. Its control relies on a strict use of preventive measures. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

[Hepatic alterations in patients with dengue].

PubMed

Larreal, Yraima; Valero, Nereida; Estévez, Jesús; Reyes, Ivette; Maldonado, Mery; Espina, Luz Marina; Arias, Julia; Meleán, Eddy; Añez, German; Atencio, Ricardo

2005-06-01

Clinical features of Dengue are very variable due to multiple alterations induced by the virus in the organism. Increased levels of transaminases similar to those produced by the Hepatitis virus have been reported in patients with Dengue from hiperendemic zones in Asia. The objectives of this study were to determine alterations in the liver tests in patients with Dengue and to relate them to the disease, clinically and serologically. Clinical history, hemathological tests serum transaminases (ALT y AST) and bilirubin assays were performed in 62 patients with clinical and serological diagnosis of Dengue. According to clinical features 38.7% of the patients with classical (CD) and hemorrhagic (DHF) forms of Dengue reffered abdominal pain and 2 patients with DHF had ictericia and hepatomegaly. Laboratory test findings showed leucopenia in 72.5% in both forms of Dengue and of patients with DHF severe thrombocytopenia (< 50.000 platelets x mm3), long PT and PPT in 70.9%, 23.0% and 42.3%, respectively. Transaminase values five fold higher than the normal values (p < 0.005) were observed in 36.8% and 74.4% of patients with CD and DHF respectively; AST was predominant in both groups. Our results suggest liver damage during the course of Dengue. A differential diagnosis has to be done between the hepatic involvement of Dengue cases and others viral diseases with hepatic disfunctions.

Characterization of Change and Significance for Clinical Findings in Radiology Reports Through Natural Language Processing.

PubMed

Hassanpour, Saeed; Bay, Graham; Langlotz, Curtis P

2017-06-01

We built a natural language processing (NLP) method to automatically extract clinical findings in radiology reports and characterize their level of change and significance according to a radiology-specific information model. We utilized a combination of machine learning and rule-based approaches for this purpose. Our method is unique in capturing different features and levels of abstractions at surface, entity, and discourse levels in text analysis. This combination has enabled us to recognize the underlying semantics of radiology report narratives for this task. We evaluated our method on radiology reports from four major healthcare organizations. Our evaluation showed the efficacy of our method in highlighting important changes (accuracy 99.2%, precision 96.3%, recall 93.5%, and F1 score 94.7%) and identifying significant observations (accuracy 75.8%, precision 75.2%, recall 75.7%, and F1 score 75.3%) to characterize radiology reports. This method can help clinicians quickly understand the key observations in radiology reports and facilitate clinical decision support, review prioritization, and disease surveillance.

Targeting Deacetylases to Improve Outcomes after Allogeneic Bone Marrow Transplantation

PubMed Central

Reddy, Pavan

2013-01-01

Graft-versus-host disease (GVHD) is the major complication of allogeneic bone marrow transplantation (BMT). GVHD is a complex immunologically mediated biological process. Recent data have shown that histone deacetylase inhibitors (HDACis) have potent anti-inflammatory effects. We have been studying the role of acetylation through inhibition of histone deacetylases (HDACs) in modulating immunity, specifically, GVHD. HDAC inhibition regulates GVHD, at least in part, through suppression of the function of host antigen presenting cells such as dendritic cells (DCs). HDACis reduce DC responses by enhancing the expression of indoleamine 2,3 dioxygenase (IDO) in a STAT-3–dependent manner. They also alter the function of other immune cells such as T regulatory cells and NK cells, which also play important roles in the biology of GVHD. Based on these observations, a clinical trial has been launched to evaluate its impact on clinical GVHD. The clinical features, biology of GVHD, the experimental studies with HDACis, and preliminary observations from humans are discussed. PMID:23874019

Diagnostic criteria for chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS).

PubMed

Tobin, W Oliver; Guo, Yong; Krecke, Karl N; Parisi, Joseph E; Lucchinetti, Claudia F; Pittock, Sean J; Mandrekar, Jay; Dubey, Divyanshu; Debruyne, Jan; Keegan, B Mark

2017-09-01

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a central nervous system inflammatory syndrome predominantly affecting the brainstem, cerebellum, and spinal cord. Following its initial description, the salient features of CLIPPERS have been confirmed and expanded upon, but the lack of formalized diagnostic criteria has led to reports of patients with dissimilar features purported to have CLIPPERS. We evaluated clinical, radiological and pathological features of patients referred for suspected CLIPPERS and propose diagnostic criteria to discriminate CLIPPERS from non-CLIPPERS aetiologies. Thirty-five patients were evaluated for suspected CLIPPERS. Clinical and neuroimaging data were reviewed by three neurologists to confirm CLIPPERS by consensus agreement. Neuroimaging and neuropathology were reviewed by experienced neuroradiologists and neuropathologists, respectively, both of whom were blinded to the clinical data. CLIPPERS was diagnosed in 23 patients (18 male and five female) and 12 patients had a non-CLIPPERS diagnosis. CLIPPERS patients' median age of onset was 58 years (interquartile range, 24-72) and were followed a median of 44 months (interquartile range 38-63). Non-CLIPPERS patients' median age of onset was 52 years (interquartile range, 39-59) and were followed a median of 27 months (interquartile range, 14-47). Clinical symptoms of gait ataxia, diplopia, cognitive impairment, and facial paraesthesia did not discriminate CLIPPERS from non-CLIPPERS. Marked clinical and radiological corticosteroid responsiveness was observed in CLIPPERS (23/23), and clinical worsening occurred in all 12 CLIPPERS cases when corticosteroids were discontinued. Corticosteroid responsiveness was common but not universal in non-CLIPPERS [clinical improvement (8/12); radiological improvement (2/12); clinical worsening on discontinuation (3/8)]. CLIPPERS patients had brainstem predominant perivascular gadolinium enhancing lesions on magnetic resonance imaging that were discriminated from non-CLIPPERS by: homogenous gadolinium enhancing nodules <3 mm in diameter without ring-enhancement or mass effect, and homogenous T2 signal abnormality not significantly exceeding the T1 enhancement. Brain neuropathology on 14 CLIPPERS cases demonstrated marked CD3-positive T-lymphocyte, mild B-lymphocyte and moderate macrophage infiltrates, with perivascular predominance as well as diffuse parenchymal infiltration (14/14), present in meninges, white and grey matter, associated with variable tissue destruction, astrogliosis and secondary myelin loss. Clinical, radiological and pathological feature define CLIPPERS syndrome and are differentiated from non-CLIPPERS aetiologies by neuroradiological and neuropathological findings. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Sonographic features of thyroid nodules that may help distinguish clinically atypical subacute thyroiditis from thyroid malignancy.

PubMed

Pan, Fu-shun; Wang, Wei; Wang, Yan; Xu, Ming; Liang, Jin-yu; Zheng, Yan-ling; Xie, Xiao-yan; Li, Xiao-xi

2015-04-01

The purpose of this study was to evaluate sonographic features for distinguishing clinically atypical subacute thyroiditis from malignant thyroid nodules. A total of 165 hypoechoic thyroid nodules without calcification in 135 patients with histologic diagnosis were included in this study. These nodules were classified into 2 groups: a thyroiditis group (55 nodules in 36 patients) and a malignancy group (110 nodules in 99 patients). The sonographic features of the groups were retrospectively reviewed. No significant differences were detected for the variables of marked echogenicity, a taller-than-wide shape, and mixed vascularity. However, a poorly defined margin was detected more frequently in the thyroiditis group than the malignancy group (P < .05); it yielded a high capability for differential diagnosis of atypical subacute thyroiditis, with sensitivity and specificity of 87.3% and 80.9%, respectively. Centripetal reduction echogenicity was observed exclusively in the thyroiditis group, with high specificity (100%) but low sensitivity (21.8%) for atypical subacute thyroiditis diagnosis. All of the thyroiditis nodules with a positive color signal showed noninternal vascularity (negative predictive value, 100%). There is a considerable overlap between the sonographic features of atypical subacute thyroiditis and thyroid malignancy. However, the margin, echogenicity, and vascularity type are helpful indicators for differential diagnosis of atypical subacute thyroiditis. © 2015 by the American Institute of Ultrasound in Medicine.

Computer-aided bone age assessment for ethnically diverse older children using integrated fuzzy logic system

NASA Astrophysics Data System (ADS)

Ma, Kevin; Moin, Paymann; Zhang, Aifeng; Liu, Brent

2010-03-01

Bone Age Assessment (BAA) of children is a clinical procedure frequently performed in pediatric radiology to evaluate the stage of skeletal maturation based on the left hand x-ray radiograph. The current BAA standard in the US is using the Greulich & Pyle (G&P) Hand Atlas, which was developed fifty years ago and was only based on Caucasian population from the Midwest US. To bring the BAA procedure up-to-date with today's population, a Digital Hand Atlas (DHA) consisting of 1400 hand images of normal children of different ethnicities, age, and gender. Based on the DHA and to solve inter- and intra-observer reading discrepancies, an automatic computer-aided bone age assessment system has been developed and tested in clinical environments. The algorithm utilizes features extracted from three regions of interests: phalanges, carpal, and radius. The features are aggregated into a fuzzy logic system, which outputs the calculated bone age. The previous BAA system only uses features from phalanges and carpal, thus BAA result for children over age of 15 is less accurate. In this project, the new radius features are incorporated into the overall BAA system. The bone age results, calculated from the new fuzzy logic system, are compared against radiologists' readings based on G&P atlas, and exhibits an improvement in reading accuracy for older children.

HIV-associated salivary gland disease--clinical or imaging diagnosis?

PubMed

da Silva Rath, Inês Beatriz; Beltrame, Ana Paula C A; Carvalho, Aroldo P; Schaeffer, Marcela B; Almeida, Izabel C S

2015-07-01

This work aimed at studying the salivary gland disease (SGD) as it relates to associated factors, such as persistent generalised lymphadenopathy (PGL), lymphocytic interstitial pneumonia (LIP), clinical and immunological features of AIDS, and salivary flow rate and pH, as well as at exploring the relationship between the clinical diagnosis and the imaging diagnosis by ultrasound (US) examination of the parotid glands. Information regarding the observation of parotid gland enlargement, PGL, LIP, and clinical and immunological features of AIDS was gathered from medical records, and a saliva sample for unstimulated salivary flow rate and pH measurement was collected from 142 children aged 3 through 10 years treated at the Department of Infectious Diseases of Joana de Gusmão Children's Hospital, Florianópolis, SC, Brazil. High-resolution ultrasonography was performed in 58 children. Pearson's chi-square test and t-test were used to evaluate the association between the variables. A significant association was found between SGD and LIP. Ultrasound revealed a 50% higher incidence of SGD that was not reported in the patients' records. US examination proved to be essential for the correct diagnosis and monitoring of the progression of HIV/SGD. © 2014 BSPD, IAPD and John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Stereotaxical Infusion of Rotenone: A Reliable Rodent Model for Parkinson's Disease

PubMed Central

Xiong, Nian; Huang, Jinsha; Zhang, Zhentao; Zhang, Zhaowen; Xiong, Jing; Liu, Xingyuan; Jia, Min; Wang, Fang; Chen, Chunnuan; Cao, Xuebing; Liang, Zhihou; Sun, Shenggang; Lin, Zhicheng; Wang, Tao

2009-01-01

A clinically-related animal model of Parkinson's disease (PD) may enable the elucidation of the etiology of the disease and assist the development of medications. However, none of the current neurotoxin-based models recapitulates the main clinical features of the disease or the pathological hallmarks, such as dopamine (DA) neuron specificity of degeneration and Lewy body formation, which limits the use of these models in PD research. To overcome these limitations, we developed a rat model by stereotaxically (ST) infusing small doses of the mitochondrial complex-I inhibitor, rotenone, into two brain sites: the right ventral tegmental area and the substantia nigra. Four weeks after ST rotenone administration, tyrosine hydroxylase (TH) immunoreactivity in the infusion side decreased by 43.7%, in contrast to a 75.8% decrease observed in rats treated systemically with rotenone (SYS). The rotenone infusion also reduced the DA content, the glutathione and superoxide dismutase activities, and induced alpha-synuclein expression, when compared to the contralateral side. This ST model displays neither peripheral toxicity or mortality and has a high success rate. This rotenone-based ST model thus recapitulates the slow and specific loss of DA neurons and better mimics the clinical features of idiopathic PD, representing a reliable and more clinically-related model for PD research. PMID:19924288

Clinical and Drug Resistance Characteristics of New Pediatric Tuberculosis Cases in Northern China.

PubMed

Wang, Ting; Dong, Fang; Li, Qin-Jing; Yin, Qing-Qin; Song, Wen-Qi; Mokrousov, Igor; Jiao, Wei-Wei; Shen, A-Dong

2018-05-09

The aim of this study was to evaluate the clinical features and characteristics of drug resistance in newly diagnosed pediatric tuberculosis (TB) patients in northern China. Mycobacterium tuberculosis isolates were collected from September 2010 to October 2016 at the Beijing Children's Hospital. Patients were divided into two groups (resistant to at least one drug and pan-susceptible) according to drug susceptibility testing (DST) results. A total of 132 new cases, mainly from northern China (87.9%), were included in the study. The median age was 1.9 years (1 month-15 years). Resistance to at least one drug was detected in Mycobacterium tuberculosis isolates from 33 (25%) cases. Eight cases of multidrug-resistant TB (MDR-TB) (6.1%) were detected. The two groups did not differ in clinical presentations (disease site, fever >2 weeks, and cough >2 weeks) or in chest imaging (lesion location, lymphadenitis [mediastinal], and pleural effusion). The rate of Mycobacterium tuberculosis drug resistance in new pediatric TB cases was as high as in the new adult patients surveyed in the national drug resistance survey conducted in 2007. No significant difference was observed in clinical features between patients infected with drug-resistant and drug-susceptible strains. Routine DST is important for prescribing effective antituberculosis treatment regimens.

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.

PubMed

Guegan, K; Stals, K; Day, M; Turnpenny, P; Ellard, S

2012-07-01

Alagille syndrome is a multisystem disorder characterized by highly variable expressivity, most frequently caused by heterozygous JAG1 gene mutations. Classic diagnostic criteria combine the presence of bile duct paucity on liver biopsy with three of five systems affected; liver, heart, skeleton, eye and dysmorphic facies. The aim of this study was to determine the prevalence and distribution of JAG1 mutations in patients referred for routine clinical diagnostic testing. Clinical data were available for 241 patients from 135 families. The index cases were grouped according to the number of systems affected (heart, liver, skeletal, eye and facies) and the mutation frequency calculated for each group. JAG1 mutations were identified in 59/135 (44%) probands. The highest mutation detection rates were observed in patients with the most frequent presenting features of Alagille syndrome; ranging from 20% (one system) to 86% (five systems). The overall mutation pick-up rate in a clinical diagnostic setting was lower than in previous research studies. Identification of a JAG1 gene mutation is particularly useful for those patients with atypical or mild Alagille syndrome who do not meet classic diagnostic criteria as it provides a definite molecular diagnosis and allows accurate genetic counselling for the family. © 2011 John Wiley & Sons A/S.

Subgraph augmented non-negative tensor factorization (SANTF) for modeling clinical narrative text

PubMed Central

Xin, Yu; Hochberg, Ephraim; Joshi, Rohit; Uzuner, Ozlem; Szolovits, Peter

2015-01-01

Objective Extracting medical knowledge from electronic medical records requires automated approaches to combat scalability limitations and selection biases. However, existing machine learning approaches are often regarded by clinicians as black boxes. Moreover, training data for these automated approaches at often sparsely annotated at best. The authors target unsupervised learning for modeling clinical narrative text, aiming at improving both accuracy and interpretability. Methods The authors introduce a novel framework named subgraph augmented non-negative tensor factorization (SANTF). In addition to relying on atomic features (e.g., words in clinical narrative text), SANTF automatically mines higher-order features (e.g., relations of lymphoid cells expressing antigens) from clinical narrative text by converting sentences into a graph representation and identifying important subgraphs. The authors compose a tensor using patients, higher-order features, and atomic features as its respective modes. We then apply non-negative tensor factorization to cluster patients, and simultaneously identify latent groups of higher-order features that link to patient clusters, as in clinical guidelines where a panel of immunophenotypic features and laboratory results are used to specify diagnostic criteria. Results and Conclusion SANTF demonstrated over 10% improvement in averaged F-measure on patient clustering compared to widely used non-negative matrix factorization (NMF) and k-means clustering methods. Multiple baselines were established by modeling patient data using patient-by-features matrices with different feature configurations and then performing NMF or k-means to cluster patients. Feature analysis identified latent groups of higher-order features that lead to medical insights. We also found that the latent groups of atomic features help to better correlate the latent groups of higher-order features. PMID:25862765

Problem solving for depressed suicide attempters and depressed individuals without suicide attempt.

PubMed

Roskar, Saska; Zorko, Maja; Bucik, Valentin; Marusic, Andrej

2007-12-01

Next to feelings of hopelessness, certain cognitive features such as problem solving deficiency, attentional bias and reduced future positive thinking are involved in the development and maintenance of suicidal behavior. The aim of this study was to examine feelings of hopelessness and problem solving ability in depressed suicide attempters and depressed individuals without a suicide attempt and to see whether these features change over time. Three groups of participants, depressed suicide attempters (N=23), psychiatric control group (N=27) and healthy volunteers (N=27) completed measures of hopelessness and executive planning and problem solving abilities. The two clinical groups completed all measures shortly after admission and then again 7 weeks later whereas the non-clinical control group completed measures at baseline only. Both clinical groups displayed a higher level of hopelessness and poorer problem solving ability when compared to non-clinical volunteers. However, no differences were found between the two clinical groups. In neither of the clinical groups was improvement in problem solving ability between baseline and retesting observed despite the lowering of feelings of hopelessness. The diagnoses in the psychiatric controls group were only obtained by the psychiatrist and not checked by further documentation or questionnaires. Furthermore we did not control for personality traits which might influence cognitive functioning. Since feelings of hopelessness decreased over time and problem solving ability nevertheless remained stable it is important that treatment not only focuses on mood improvement of depressed suicidal and depressed non-suicidal individuals but also on teaching problem solving techniques.

Association of Discoid Lupus with Clinical Manifestations and Damage Accrual in PROFILE: A Multiethnic Lupus Cohort

PubMed Central

Santiago-Casas, Yesenia; Vilá, Luis M.; McGwin, Gerald; Cantor, Ryan S.; Petri, Michelle; Ramsey-Goldman, Rosalind; Reveille, John D.; Kimberly, Robert P.; Alarcón, Graciela S.; Brown, Elizabeth E.

2013-01-01

Objective To determine the clinical manifestations and disease damage associated with discoid rash in a large multiethnic systemic lupus erythematosus (SLE) cohort. Methods SLE patients (per ACR criteria), age ≥ 16 years, disease duration ≤ 10 years at enrollment, and defined ethnicity (African American, Hispanic or Caucasian), from a longitudinal cohort were studied. Socioeconomic-demographic features, clinical manifestations and disease damage [as per the Systemic Lupus International Collaborating Clinics Damage Index (SDI)] were determined. The association of DLE with clinical manifestations and disease damage was examined using multivariable logistic regression. Results A total of 2,228 SLE patients were studied. The mean (standard deviation, SD) age at diagnosis was 34.3 (12.8) years and the mean (SD) disease duration was 7.9 (6.0) years; 91.8% were women. Discoid lupus was observed in 393 (17.6%) of patients with SLE. In the multivariable analysis, patients with discoid lupus were more likely to be smokers and of African-American ethnicity, and to have malar rash, photosensitivity, oral ulcers, leukopenia and vasculitis. DLE patients were less likely to be of Hispanic (from Texas) ethnicity, and to have arthritis, end-stage renal disease (ESRD), and antinuclear, anti-dsDNA and anti-phospholipid antibodies. Patients with DLE had more damage accrual, particularly chronic seizures, scarring alopecia, scarring of the skin, and skin ulcers. Conclusion In this cohort of SLE patients, discoid lupus was associated with several clinical features including serious manifestations such as vasculitis and chronic seizures. PMID:22190480

Current situation of asthma-COPD overlap syndrome (ACOS) in Chinese patients older than 40 years with airflow limitation: rationale and design for a multicenter, cross-sectional trial (study protocol).

PubMed

Kang, Jian; Yao, Wanzhen; Cai, Baiqiang; Chen, Ping; Ling, Xia; Shang, Hongyan

2016-12-01

Asthma and chronic obstructive pulmonary disease (COPD) are the frequently occurring chronic airway diseases, and the overlapping syndrome observed in the majority of patients has been recently defined as asthma-COPD overlap syndrome (ACOS) by the Global Initiative for Chronic Obstructive Lung (GOLD, 2014) and Global initiative for Asthma (GINA, 2015). The proportion, features, and clinical practice of ACOS still remain elusive in China. We are conducting this multicenter, cross-sectional, observational study (NCT02600221) to investigate the distributions of chronic obstructive diseases in patients >40 years of age with chronic airflow limitation in China along with determination of the main clinical practice and features of these diseases. The study will also explore the factors that may influence the exacerbations and severity of ACOS in Chinese patients (>40 years of age). A total of 2,000 patients (age, ≥40 years; either sex) who are clinically diagnosed as having asthma, COPD/chronic bronchitis/emphysema, or ACOS for at least 12 months with airflow limitation [post-bronchodilator forced expiratory volume in 1 second/forced vital capacity (FEV 1 /FVC): <0.7] will be enrolled from approximately 20 sites in China between December 2015 and December 2016. The proportion of ACOS among patients older than 40 years based on GINA 2015 and GOLD 2014 definitions is the primary variable. Following were the secondary variables: the proportions of COPD and asthma among the patients, distributions of the severity of airflow limitation, distribution of groups according to GOLD 2011 group definition (A, B, C, D), and the distribution of medication by drug class in patients with ACOS, asthma, and COPD. Acute exacerbation history, hospitalization, and severity of ACOS as evaluated using COPD Assessment Test, Asthma Control Questionnaire-5, and Modified British Medical Research Council in patients with ACOS were also assessed. This will be the first study to disseminate scientific knowledge on the current situation, main clinical practice, and features of ACOS, asthma, and COPD conditions in Chinese patients. The insights will be helpful in designing optimal management strategies for ACOS and redefining the healthcare development programs.

Epidemiology and clinical features of patients with visceral leishmaniasis treated by an MSF clinic in Bakool region, Somalia, 2004-2006.

PubMed

Raguenaud, Marie-Eve; Jansson, Anna; Vanlerberghe, Veerle; Van der Auwera, Geert; Deborggraeve, Stijn; Dujardin, Jean-Claude; Orfanos, Giannos; Reid, Tony; Boelaert, Marleen

2007-10-31

There are few reports describing the epidemiology of visceral leishmaniasis (VL) in Somalia. Over the years 2002 to 2005, a yearly average of 140 patients were reported from the Huddur centre in Bakool region, whereas in 2006, this number rose to 1002 patients. Given the limited amount of information on VL and the opportunity to compare features with the studies done in 2000 in this part of Somalia, we describe the epidemiologic and clinical features of patients who presented to the Huddur treatment centre of Bakool region, Somalia, using data routinely collected over a five-year observation period (2002-2006). Methods used included the analysis of routine data on VL cases treated in the Huddur treatment centre, a retrospective study of records of patients admitted between 2004 and 2006, community leaders interviews, and analysis of blood specimens taken for parasite species identification in Antwerp Institute of Tropical Medicine. A total of 1671 VL patients were admitted to the Huddur centre from January 2002 until December 2006. Nearly all patients presented spontaneously to the health centre. Since 2002, the average patient load was stable, with an average of 140 admissions per year. By the end of 2005, the number of admissions dramatically increased to reach a 7-fold increase in 2006. The genotype of L. donovani identified in 2006 was similar to the one reported in 2002. 82% of total patients treated for VL originated from two districts of Bakool region, Huddur and Tijelow districts. Clinical recovery rate was 93.2% and case fatality rate 3.9%. After four years of low but constant VL case findings, a major increase in VL was observed over a 16-month period in the Huddur VL centre. The profile of the patients was pediatric and mortality relatively low. Decentralized treatment centers, targeted active screening, and community sensitization will help decrease morbidity and mortality from VL in this endemic area. The true magnitude of VL in Somalia remains unknown. Further documentation to better understand transmission dynamics and thus define appropriate control measures will depend on the stability of the context and safe access to the Somali population.

[Clinical and pathologic observation of uveal metastatic carcinoma].

PubMed

Cong, C X; Lin, J Y; Wang, L H

2016-10-11

Objective: To observe the clinical and pathological features of uveal metastatic carcinoma. Methods: It was a retrospective case series study. The clinical manifestation, growth pattern, tumor types and relative pathological features of 13 patients visiting from January 1980 to December 2014 with uveal metastatic carcinoma in Tianjin Eye Hospital were analyzed retrospectively. Results: There were 13 cases, 6 cases of male and 7 of female. Age was from 37.0 to 66.0 years old. The mean age was 52.1 years old. all cases were monocular. There were 5 cases with right eye and 8 cases with left eye. Among 13 cases, 10 tumors were in posterior choroid, one tumor was in anterior choroid and ciliary body, 2 tumors were in the iris. There were 5 patients with lung cancer, 4 patients with breast cancer, 1 patient with prostate cancer, 1 patient with thyroid cancer and 1 patient with esophageal cancer. The primary tumor wasn't found in 1 patient. The rapid decrease of visual acuity showed in 10 patients with posterior choroidal metastatic carcinoma, 8 of them accompanied with extensive retinal detachment and 6 of them had secondary glaucoma. The multiple gray-white nodule or pink cauliflower mass on the papillary margin of iris were showed respectively in 2 patients with iris metastatic carcinoma. The pathological examination found that posterior choroidal metastatic carcinoma mainly located in temporal or nasal side choroids in 10 cases, among them, local or diffuse flat choroidal masses showed in 6cases, extensive mass involving choroid and ciliary body showed in 1 case, large nodular or globular choroidal mass showed in 2 cases, choroidal mass surrounded the optic disc in 1 case, optic nerve invasion showed in 3 cases and extraocular or orbital invasion showed in 3 cases. The scleral and subconjunctival invasion showed in 1 case of anterior choroid and ciliary body metastatic carcinoma. Conclusions: Uveal metastatic carcinoma manifested various growth pattern, the rapid decrease of visual acuity, flat or nodular choroidal solid mass, secondary retinal detachment and glaucoma were common clinical features. Some cases might invade extraocular or orbital tissue. (Chin J Ophthalmol, 2016, 52: 769-774) .

Burning mouth syndrome: an enigmatic disorder.

PubMed

Javali, M A

2013-01-01

Burning mouth syndrome (BMS) is a chronic oral pain or burning sensation affecting the oral mucosa, often unaccompanied by mucosal lesions or other evident clinical signs. It is observed principally in middle-aged patients and postmenopausal women and may be accompanied by xerostomia and altered taste. Burning mouth syndrome is characterized by an intense burning or stinging sensation, preferably on the tongue or in other areas of mouth. This disorder is one of the most common, encountered in the clinical practice. This condition is probably of multifactorial origin; however the exact underlying etiology remains uncertain. This article discusses several aspects of BMS, updates current knowledge about the etiopathogenesis and describes the clinical features as well as the diagnosis and management of BMS patients.

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.

PubMed

Semplicini, Claudio; Vissing, John; Dahlqvist, Julia R; Stojkovic, Tanya; Bello, Luca; Witting, Nanna; Duno, Morten; Leturcq, France; Bertolin, Cinzia; D'Ambrosio, Paola; Eymard, Bruno; Angelini, Corrado; Politano, Luisa; Laforêt, Pascal; Pegoraro, Elena

2015-04-28

To determine the clinical spectrum of limb-girdle muscular dystrophy 2E (LGMD2E) and to investigate whether genetic or biochemical features can predict the phenotype of the disease. All LGMD2E patients followed in participating centers were included. A specific clinical protocol was created, including quantitative evaluation of motor, respiratory, and cardiac function. Phenotype was defined as severe or mild if the age at loss of ambulation occurred before or after 18 years. Molecular analysis of SGCB gene and biochemical features of muscle biopsies were reviewed. Thirty-two patients were included (16 male, 16 female; age 7-67 years; 15 severe, 12 mild, and 5 unknown). Neurologic examination showed proximal muscle weakness in all patients, but distal involvement was also observed in patients with severe disease early in the disease course. Cardiac involvement was observed in 20 patients (63%) even before overt muscle involvement. Six patients had restrictive respiratory insufficiency requiring assisted ventilation (19%). Seventeen different mutations were identified, and 3 were recurrent. The c.377_384dup (13 alleles) was associated with the severe form, the c.-22_10dup (10) with the milder form, and the c.341C>T (9) with both. The entire sarcoglycan complex was undetectable by muscle immunohistochemistry or Western blot in 9/10 severe cases and reduced in 7/7 mild cases. The residual amount of sarcoglycan in muscle resulted a predictor of age at loss of ambulation. This study expands the spectrum of phenotype in β-sarcoglycanopathy and provides strong evidence that severity of clinical involvement may be predicted by SGCB gene mutation and sarcoglycan protein expression. © 2015 American Academy of Neurology.

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

PubMed Central

Semplicini, Claudio; Vissing, John; Dahlqvist, Julia R.; Stojkovic, Tanya; Bello, Luca; Witting, Nanna; Duno, Morten; Leturcq, France; Bertolin, Cinzia; D'Ambrosio, Paola; Eymard, Bruno; Angelini, Corrado; Politano, Luisa

2015-01-01

Objective: To determine the clinical spectrum of limb-girdle muscular dystrophy 2E (LGMD2E) and to investigate whether genetic or biochemical features can predict the phenotype of the disease. Methods: All LGMD2E patients followed in participating centers were included. A specific clinical protocol was created, including quantitative evaluation of motor, respiratory, and cardiac function. Phenotype was defined as severe or mild if the age at loss of ambulation occurred before or after 18 years. Molecular analysis of SGCB gene and biochemical features of muscle biopsies were reviewed. Results: Thirty-two patients were included (16 male, 16 female; age 7–67 years; 15 severe, 12 mild, and 5 unknown). Neurologic examination showed proximal muscle weakness in all patients, but distal involvement was also observed in patients with severe disease early in the disease course. Cardiac involvement was observed in 20 patients (63%) even before overt muscle involvement. Six patients had restrictive respiratory insufficiency requiring assisted ventilation (19%). Seventeen different mutations were identified, and 3 were recurrent. The c.377_384dup (13 alleles) was associated with the severe form, the c.-22_10dup (10) with the milder form, and the c.341C>T (9) with both. The entire sarcoglycan complex was undetectable by muscle immunohistochemistry or Western blot in 9/10 severe cases and reduced in 7/7 mild cases. The residual amount of sarcoglycan in muscle resulted a predictor of age at loss of ambulation. Conclusions: This study expands the spectrum of phenotype in β-sarcoglycanopathy and provides strong evidence that severity of clinical involvement may be predicted by SGCB gene mutation and sarcoglycan protein expression. PMID:25862795

Endosonographic and manometric evaluation of internal anal sphincter in patients with chronic anal fissure and its correlation with clinical outcome after topical glyceryl trinitrate therapy.

PubMed

Pascual, Marta; Pera, Miguel; Courtier, Ricard; Gil, Mariá José; Parés, David; Puig, Sonia; Andreu, Montserrat; Grande, Luis

2007-08-01

Anorectal pressure studies have demonstrated internal anal sphincter (IAS) hypertonia in patients with chronic anal fissure. It is unknown however, if these changes in IAS function are associated with any abnormality in sphincter morphology. The first aim was to investigate the clinical characteristics and the manometric and endosonographic findings of the IAS in a cohort of patients with chronic anal fissure. The second aim was to investigate the association between these findings and the outcome with topical Glyceryl trinitrate (GTN) therapy. All patients who presented with chronic anal fissure from November 1999 to May 2004 were included after failure of conservative therapy. Anorectal manometry and anal endosonography were performed before treatment with 0.2% GTN ointment twice daily was initiated. Patients were evaluated after 8 weeks. One hundred and twenty-four patients (66 women, mean age, 45.2 +/- 14.8 years) were included. Hypertonia of the IAS was found in 84 (68%) patients. The mean maximum IAS thickness was 3.6 +/- 0.76 mm (1.6-5.5). An abnormally thick IAS, adjusted by age, was observed in 113 (91.1%) patients. We found no correlation between resting pressure and IAS thickness (r = 0.074; p = 0.41). At 8 weeks, 52 patients (42%) had healed with complete symptoms resolution. No statistically significant differences were observed when clinical features and manometric and endosonographic findings were compared between healing and no-healing fissures. The majority of patients with chronic anal fissure present an abnormally thick IAS. Clinical, manometric and endosonographic features had no association with outcome after GTN treatment.

Indocyanine Green Fluorescence for Free-Flap Perfusion Imaging Revisited: Advanced Decision Making by Virtual Perfusion Reality in Visionsense Fusion Imaging Angiography.

PubMed

Bigdeli, Amir Khosrow; Gazyakan, Emre; Schmidt, Volker Juergen; Hernekamp, Frederick Jochen; Harhaus, Leila; Henzler, Thomas; Kremer, Thomas; Kneser, Ulrich; Hirche, Christoph

2016-06-01

Near-infrared indocyanine green video angiography (ICG-NIR-VA) has been introduced for free-flap surgery and may provide intraoperative flap designing as well as postoperative monitoring. Nevertheless, the technique has not been established in clinical routine because of controversy over benefits. Improved technical features of the novel Visionsense ICG-NIR-VA surgery system are promising to revisit the field of application. It features a unique real-time fusion image of simultaneous NIR and white light visualization, with highlighted perfusion, including a color-coded perfusion flow scale for optimized anatomical understanding. In a feasibility study, the Visionsense ICG-NIR-VA system was applied during 10 free-flap surgeries in 8 patients at our center. Indications included anterior lateral thigh (ALT) flap (n = 4), latissimus dorsi muscle flap (n = 1), tensor fascia latae flap (n = 1), and two bilateral deep inferior epigastric artery perforator flaps (n = 4). The system was used intraoperatively and postoperatively to investigate its impact on surgical decision making and to observe perfusion patterns correlated to clinical monitoring. Visionsense ICG-NIR-VA aided assessing free-flap design and perfusion patterns in all cases and correlated with clinical observations. Additional interventions were performed in 2 cases (22%). One venous anastomosis was revised, and 1 flap was redesigned. Indicated by ICG-NIR-VA, 1 ALT flap developed partial flap necrosis (11%). The Visionsense ICG-NIR-VA system allowed a virtual view of flap perfusion anatomy by fusion imaging in real-time. The system improved decision making for flap design and surgical decisions. Clinical and ICG-NIR-VA parameters correlated. Its future implementation may aid in improving outcomes for free-flap surgery, but additional experience is needed to define its final role. © The Author(s) 2015.

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.

PubMed

Striano, Pasquale; Coppola, Antonietta; Paravidino, Roberta; Malacarne, Michela; Gimelli, Stefania; Robbiano, Angela; Traverso, Monica; Pezzella, Marianna; Belcastro, Vincenzo; Bianchi, Amedeo; Elia, Maurizio; Falace, Antonio; Gazzerro, Elisabetta; Ferlazzo, Edoardo; Freri, Elena; Galasso, Roberta; Gobbi, Giuseppe; Molinatto, Cristina; Cavani, Simona; Zuffardi, Orsetta; Striano, Salvatore; Ferrero, Giovanni Battista; Silengo, Margherita; Cavaliere, Maria Luigia; Benelli, Matteo; Magi, Alberto; Piccione, Maria; Dagna Bricarelli, Franca; Coviello, Domenico A; Fichera, Marco; Minetti, Carlo; Zara, Federico

2012-03-01

To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy. Prospective cohort study. Epilepsy centers in Italy. Two hundred seventy-nine patients with unexplained epilepsy, 265 individuals with nonsyndromic mental retardation but no epilepsy, and 246 healthy control subjects were screened by microarray-based comparative genomic hybridization. Identification of copy number variations (CNVs) and gene enrichment. Rare CNVs occurred in 26 patients (9.3%) and 16 healthy control subjects (6.5%) (P = .26). The CNVs identified in patients were larger (P = .03) and showed higher gene content (P = .02) than those in control subjects. The CNVs larger than 1 megabase (P = .002) and including more than 10 genes (P = .005) occurred more frequently in patients than in control subjects. Nine patients (34.6%) among those harboring rare CNVs showed rearrangements associated with emerging microdeletion or microduplication syndromes. Mental retardation and neuropsychiatric features were associated with rare CNVs (P = .004), whereas epilepsy type was not. The CNV rate in patients with epilepsy and mental retardation or neuropsychiatric features is not different from that observed in patients with mental retardation only. Moreover, significant enrichment of genes involved in ion transport was observed within CNVs identified in patients with epilepsy. Patients with epilepsy show a significantly increased burden of large, rare, gene-rich CNVs, particularly when associated with mental retardation and neuropsychiatric features. The limited overlap between CNVs observed in the epilepsy group and those observed in the group with mental retardation only as well as the involvement of specific (ion channel) genes indicate a specific association between the identified CNVs and epilepsy. Screening for CNVs should be performed for diagnostic purposes preferentially in patients with epilepsy and mental retardation or neuropsychiatric features.

SU-F-R-53: CT-Based Radiomics Analysis of Non-Small Cell Lung Cancer Patients Treated with Stereotactic Body Radiation Therapy

DOE Office of Scientific and Technical Information (OSTI.GOV)

Huynh, E; Coroller, T; Narayan, V

Purpose: Stereotactic body radiation therapy (SBRT) is the standard of care for medically inoperable non-small cell lung cancer (NSCLC) patients and has demonstrated excellent local control and survival. However, some patients still develop distant metastases and local recurrence, and therefore, there is a clinical need to identify patients at high-risk of disease recurrence. The aim of the current study is to use a radiomics approach to identify imaging biomarkers, based on tumor phenotype, for clinical outcomes in SBRT patients. Methods: Radiomic features were extracted from free breathing computed tomography (CT) images of 113 Stage I-II NSCLC patients treated with SBRT.more » Their association to and prognostic performance for distant metastasis (DM), locoregional recurrence (LRR) and survival was assessed and compared with conventional features (tumor volume and diameter) and clinical parameters (e.g. performance status, overall stage). The prognostic performance was evaluated using the concordance index (CI). Multivariate model performance was evaluated using cross validation. All p-values were corrected for multiple testing using the false discovery rate. Results: Radiomic features were associated with DM (one feature), LRR (one feature) and survival (four features). Conventional features were only associated with survival and one clinical parameter was associated with LRR and survival. One radiomic feature was significantly prognostic for DM (CI=0.670, p<0.1 from random), while none of the conventional and clinical parameters were significant for DM. The multivariate radiomic model had a higher median CI (0.671) for DM than the conventional (0.618) and clinical models (0.617). Conclusion: Radiomic features have potential to be imaging biomarkers for clinical outcomes that conventional imaging metrics and clinical parameters cannot predict in SBRT patients, such as distant metastasis. Development of a radiomics biomarker that can identify patients at high-risk of recurrence could facilitate personalization of their treatment regimen for an optimized clinical outcome. R.M. had consulting interest with Amgen (ended in 2015).« less

Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome.

PubMed

Urosevic, Jelena; Sauzeau, Vincent; Soto-Montenegro, María L; Reig, Santiago; Desco, Manuel; Wright, Emma M Burkitt; Cañamero, Marta; Mulero, Francisca; Ortega, Sagrario; Bustelo, Xosé R; Barbacid, Mariano

2011-03-22

RASopathies are a class of developmental syndromes that result from congenital mutations in key elements of the RAS/RAF/MEK signaling pathway. A well-recognized RASopathy is the cardio-facio-cutaneous (CFC) syndrome characterized by a distinctive facial appearance, heart defects, and mental retardation. Clinically diagnosed CFC patients carry germ-line mutations in four different genes, B-RAF, MEK1, MEK2, and K-RAS. B-RAF is by far the most commonly mutated locus, displaying mutations that most often result in constitutive activation of the B-RAF kinase. Here, we describe a mouse model for CFC generated by germ-line expression of a B-RafLSLV600E allele. This targeted allele allows low levels of expression of B-RafV600E, a constitutively active B-Raf kinase first identified in human melanoma. B-Raf+/LSLV600E mice are viable and display several of the characteristic features observed in CFC patients, including reduced life span, small size, facial dysmorphism, cardiomegaly, and epileptic seizures. These mice also show up-regulation of specific catecholamines and cataracts, two features detected in a low percentage of CFC patients. In addition, B-Raf+/LSLV600E mice develop neuroendocrine tumors, a pathology not observed in CFC patients. These mice may provide a means of better understanding the pathophysiology of at least some of the clinical features present in CFC patients. Moreover, they may serve as a tool to evaluate the potential therapeutic efficacy of B-RAF inhibitors and establish the precise window at which they could be effective against this congenital syndrome.

Skin depigmentation associated with toceranib phosphate in a dog.

PubMed

Cavalcanti, Jacqueline V J; Hasbach, Andrea; Barnes, Katie; Dange, Rahul B; Patterson, Jon; Saavedra, Paulo Vilar

2017-08-01

Drug-induced depigmentation is frequently observed in humans undergoing tyrosine kinase inhibitor therapy, whereas it is not reported in dogs. The skin depigmentation can occur after the first week of treatment and it is reversible within a few weeks after drug discontinuation. To report the clinical and histopathological features of an episode of cutaneous adverse drug reaction associated with short term administration of toceranib phosphate. An 11-year-old intact male Bernese mountain dog was presented for investigation of a subcutaneous mast cell tumour (MCT) including treatment options. The major abnormality on physical examination was a 7.5 × 10 cm subcutaneous mass located cranial to the left shoulder joint consistent with a MCT. Toceranib phosphate therapy was initiated. Fourteen days after initiating treatment, the dog presented with skin erosions near the lateral canthus of the left eye. Three weeks later there were multiple skin lesions characterized by alopecia and depigmentation involving left and right eyelids; leukotrichia of the periorbital areas and depigmentation of the nasal planum and all paw pads. Histopathological findings were nonspecific; they were supportive of vitiligo. Resolution of skin lesions was observed after stopping the toceranib phosphate therapy. Based on the gross lesions, histopathological features before and after tyrosine kinase inhibitor therapy, and Naranjo score, this case was considered to be consistent with cutaneous adverse drug effects. To the best of the authors' knowledge, this is the first report describing the clinical and histopathological features of presumed drug-induced skin depigmentation in a dog receiving toceranib phosphate. © 2017 ESVD and ACVD.

Oral lichenoid lesions: distinguishing the benign from the deadly.

PubMed

Müller, Susan

2017-01-01

Oral lichen planus is a chronic inflammatory disease of unknown etiology or pathogenesis with varied disease severity that waxes and wanes over a long period of time. Although a common oral mucosal disease, accurate diagnosis is often challenging due to the overlapping clinical and histopathological features of oral lichen planus and other mucosal diseases. Other immune-mediated mucocutaneous diseases can exhibit lichenoid features including mucous membrane pemphigoid, chronic graft-versus-host disease, and discoid lupus erythematosus. Reactive changes to dental materials or to systemic medications can mimic oral lichen planus both clinically and histologically. In these situations the clinical presentation can be useful, as oral lichen planus presents as a multifocal process and is usually symmetrical and bilateral. Dysplasia of the oral cavity can exhibit a lichenoid histology, which may mask the potentially premalignant features. Proliferative verrucous leukoplakia, an unusual clinical disease, can often mimic oral lichen planus clinically, requiring careful correlation of the clinical and pathologic features.

Cardiovascular Disease and 10-Year Mortality in Postmenopausal Women with Clinical Features of Polycystic Ovary Syndrome.

PubMed

Merz, C Noel Bairey; Shaw, Leslee J; Azziz, Ricardo; Stanczyk, Frank Z; Sopko, George; Braunstein, Glenn D; Kelsey, Sheryl F; Kip, Kevin E; Cooper-DeHoff, Rhonda M; Johnson, B Delia; Vaccarino, Viola; Reis, Steven E; Bittner, Vera; Hodgson, T Keta; Rogers, William; Pepine, Carl J

2016-09-01

Women with polycystic ovary syndrome (PCOS) have greater cardiac risk factor clustering but the link with mortality is incompletely described. To evaluate outcomes in 295 postmenopausal women enrolled in the National Institutes of Health-National Heart, Lung, and Blood Institute (NIH-NHLBI) sponsored Women's Ischemia Syndrome Evaluation (WISE) study according to clinical features of PCOS. A total of 25/295 (8%) women had clinical features of PCOS defined by a premenopausal history of irregular menses and current biochemical evidence of hyperandrogenemia, defined as the top quartile of androstenedione (≥701 pg/mL), testosterone (≥30.9 ng/dL), or free testosterone (≥4.5 pg/mL). Cox proportional hazard model estimated death (n = 80). Women with clinical features of PCOS had an earlier menopause (p = 0.01), were more often smokers (p < 0.04), and trended toward more angiographic coronary artery disease (CAD) (p = 0.07) than women without these features. Cumulative 10-year mortality was 28% for women with (n = 25) versus 27% without clinical features of PCOS (n = 270) (p = 0.85). PCOS was not a significant predictor (p = NS) in prognostic models including diabetes, waist circumference, hypertension, and angiographic CAD. From this longer-term follow up of a relatively small cohort of postmenopausal women with suspected ischemia, the prevalence of PCOS is similar to the general population, and clinical features of PCOS are not associated with CAD or mortality. These findings question whether identification of clinical features of PCOS in postmenopausal women who already have known cardiovascular disease provides any additional opportunity for risk factor intervention.

Cardiovascular Disease and 10-Year Mortality in Postmenopausal Women with Clinical Features of Polycystic Ovary Syndrome

PubMed Central

Shaw, Leslee J.; Azziz, Ricardo; Stanczyk, Frank Z.; Sopko, George; Braunstein, Glenn D.; Kelsey, Sheryl F.; Kip, Kevin E.; Cooper-DeHoff, Rhonda M.; Johnson, B. Delia; Vaccarino, Viola; Reis, Steven E.; Bittner, Vera; Hodgson, T. Keta; Rogers, William; Pepine, Carl J.

2016-01-01

Abstract Background: Women with polycystic ovary syndrome (PCOS) have greater cardiac risk factor clustering but the link with mortality is incompletely described. Objective: To evaluate outcomes in 295 postmenopausal women enrolled in the National Institutes of Health–National Heart, Lung, and Blood Institute (NIH-NHLBI) sponsored Women's Ischemia Syndrome Evaluation (WISE) study according to clinical features of PCOS. Materials and Methods: A total of 25/295 (8%) women had clinical features of PCOS defined by a premenopausal history of irregular menses and current biochemical evidence of hyperandrogenemia, defined as the top quartile of androstenedione (≥701 pg/mL), testosterone (≥30.9 ng/dL), or free testosterone (≥4.5 pg/mL). Cox proportional hazard model estimated death (n = 80). Results: Women with clinical features of PCOS had an earlier menopause (p = 0.01), were more often smokers (p < 0.04), and trended toward more angiographic coronary artery disease (CAD) (p = 0.07) than women without these features. Cumulative 10-year mortality was 28% for women with (n = 25) versus 27% without clinical features of PCOS (n = 270) (p = 0.85). PCOS was not a significant predictor (p = NS) in prognostic models including diabetes, waist circumference, hypertension, and angiographic CAD. Conclusion: From this longer-term follow up of a relatively small cohort of postmenopausal women with suspected ischemia, the prevalence of PCOS is similar to the general population, and clinical features of PCOS are not associated with CAD or mortality. These findings question whether identification of clinical features of PCOS in postmenopausal women who already have known cardiovascular disease provides any additional opportunity for risk factor intervention. PMID:27267867

Benign Occipital Epilepsies of Childhood: Clinical Features and Genetics

ERIC Educational Resources Information Center

Taylor, Isabella; Berkovic, Samuel F.; Kivity, Sara; Scheffer, Ingrid E.

2008-01-01

The early and late benign occipital epilepsies of childhood (BOEC) are described as two discrete electro-clinical syndromes, eponymously known as Panayiotopoulos and Gastaut syndromes. Our aim was to explore the clinical features, classification and clinical genetics of these syndromes using twin and multiplex family studies to determine whether…

[Clinical and histopathological features of myositis associated with anti-mitochondrial antibodies].

PubMed

Shimizu, Jun

2013-01-01

Anti-mitochondrial antibodies (AMA) are known to be characteristic markers of primary biliary cirrhosis (PBC). The association of PBC with myositis has been reported mainly as case reports, and comprehensive studies of the clinical and histopathological features of patients with myositis and AMAs or PBC have not been conducted thus far. We retrospectively reviewed 212 patients with inflammatory myopathies in our laboratory and found 24 patients with AMA-positive myositis (11%) (seven patients with PBC and 17 patients without PBC). The analysis of clinical and histopathological features revealed that myositis associated with AMAs frequently include patients with a clinically chronic disease course, muscle atrophy, cardiopulmonary involvement and granulomatous inflammation, regardless of the presence or absence of PBC. We also reviewed and analyzed the clinical features of previously reported patients. The analysis of 75 patients, which have been described in previous case reports including the ones of meeting abstracts, also showed the similar results about clinical features of myositis associated with AMAs and supported our findings. Our study suggests that myositis associated with AMAs form a characteristic subgroup.

Periocular hemangiomas: what every physician should know.

PubMed

Ceisler, Emily J; Santos, Laura; Blei, Francine

2004-01-01

Hemangiomas are the most common benign tumor of infancy. Most hemangiomas remain asymptomatic and can be managed by close observation; however, immediate treatment is indicated for hemangiomas that may cause significant complications. Periocular hemangiomas warrant close evaluation and early, active treatment of those with the potential to threaten or permanently compromise vision. Herein we review the clinical features of periocular hemangiomas, differential diagnosis, possible ophthalmologic complications and sequelae, and therapeutic modalities.

Transesophageal echocardiography in cryptogenic stroke and patent foramen ovale: analysis of putative high-risk features from the risk of paradoxical embolism database.

PubMed

Wessler, Benjamin S; Thaler, David E; Ruthazer, Robin; Weimar, Christian; Di Tullio, Marco R; Elkind, Mitchell S V; Homma, Shunichi; Lutz, Jennifer S; Mas, Jean-Louis; Mattle, Heinrich P; Meier, Bernhard; Nedeltchev, Krassen; Papetti, Federica; Di Angelantonio, Emanuele; Reisman, Mark; Serena, Joaquín; Kent, David M

2014-01-01

Patent foramen ovale (PFO) is associated with cryptogenic stroke (CS), although the pathogenicity of a discovered PFO in the setting of CS is typically unclear. Transesophageal echocardiography features such as PFO size, associated hypermobile septum, and presence of a right-to-left shunt at rest have all been proposed as markers of risk. The association of these transesophageal echocardiography features with other markers of pathogenicity has not been examined. We used a recently derived score based on clinical and neuroimaging features to stratify patients with PFO and CS by the probability that their stroke is PFO-attributable. We examined whether high-risk transesophageal echocardiography features are seen more frequently in patients more likely to have had a PFO-attributable stroke (n=637) compared with those less likely to have a PFO-attributable stroke (n=657). Large physiologic shunt size was not more frequently seen among those with probable PFO-attributable strokes (odds ratio [OR], 0.92; P=0.53). The presence of neither a hypermobile septum nor a right-to-left shunt at rest was detected more often in those with a probable PFO-attributable stroke (OR, 0.80; P=0.45; OR, 1.15; P=0.11, respectively). We found no evidence that the proposed transesophageal echocardiography risk markers of large PFO size, hypermobile septum, and presence of right-to-left shunt at rest are associated with clinical features suggesting that a CS is PFO-attributable. Additional tools to describe PFOs may be useful in helping to determine whether an observed PFO is incidental or pathogenically related to CS.

Clinical profile, predisposing factors, and associated co-morbidities of children with cerebral palsy in South India

PubMed Central

Gowda, Vykuntaraju K.; Kumar, Anil; Shivappa, Sanjay K.; Srikanteswara, Praveen Kumar; Shivananda; Mahadeviah, M. S.; Govindraj, M.; Ramaswamy, Premalatha

2015-01-01

Introduction: Cerebral palsy (CP) is the most common physical disorder of children. Causes like jaundice and birth injury though are decreasing; complications resulting from the survival of low birth weight babies are replacing some of the older etiologies. Hence, this study was planned. Objectives: The objective was to study the clinical patterns, predisposing factors, and co-morbidities in children with CP. Materials and Methods: The present study is a hospital based prospective study conducted from January 2012 to January 2013 in children presenting to neurodevelopmental clinic at a tertiary care teaching hospital in India. Hundred cases with clinical features suggestive of CP were included in the study. Cases were evaluated by history, clinical examination, and necessary investigations. Results: Results of the study showed 81% of spastic, 12% of hypotonic, 5% of dystonic, and 2% of mixed CP cases. The mean age of presentation was 2 year, 2 month, and male to female ratio of 1:2. Pregnancy-induced hypertension (PIH) was the most common antenatal complication observed in 6%. Four percent had neonatal sepsis and 19% were born premature. Associated co-morbidities were mental retardation (55%), seizure disorder (46%), visual problems (26%), hearing problems (19%), and failure to thrive (47%). Discussion: Sex distribution observed in our study was male to female ratio of 1.2, which was comparable with a multicenter study in Europe. PIH was observed in 6% of cases, which was comparable with prior studies. Birth asphyxia was observed in 43% of cases. Eighty-one percent of the cases constituted a spastic variety of CP which was comparable to other studies. Conclusion: Perinatal asphyxia was the important etiological factor. We found preventable intranatal causes (60%) and antenatal causes (20%) forming a significant proportion. Co-morbidities were significantly observed in our study. PMID:26167210

Sex-Specific Patterns of Aberrant Brain Function in First-Episode Treatment-Naive Patients with Schizophrenia.

PubMed

Lei, Wei; Li, Mingli; Deng, Wei; Zhou, Yi; Ma, Xiaohong; Wang, Qiang; Guo, Wanjun; Li, Yinfei; Jiang, Lijun; Han, Yuanyuan; Huang, Chaohua; Hu, Xun; Li, Tao

2015-07-16

Male and female patients with schizophrenia show significant differences in a number of important clinical features, yet the neural substrates of these differences are still poorly understood. Here we explored the sex differences in the brain functional aberrations in 124 treatment-naïve patients with first-episode schizophrenia (61 males), compared with 102 age-matched healthy controls (50 males). Maps of degree centrality (DC) and amplitude of low-frequency fluctuations (ALFF) were constructed using resting-state functional magnetic resonance imaging data and compared between groups. We found that: (1) Selective DC reduction was observed in the right putamen (Put_R) in male patients and the left middle frontal gyrus (MFG) in female patients; (2) Functional connectivity analysis (using Put_R and MFG as seeds) found that male and female patients have disturbed functional integration in two separate networks, i.e., the sensorimotor network and the default mode network; (3) Significant ALFF alterations were also observed in these two networks in both genders; (4) Sex specific brain functional alterations were associated with various symptoms in patients. These results suggested that sex-specific patterns of functional aberration existed in schizophrenia, and these patterns were associated with the clinical features both in male and female patients.

Clinical features of schizophrenia in a woman with hyperandrogenism.

PubMed Central

Kopala, L C; Lewine, R; Good, K P; Fluker, M; Martzke, J S; Lapointe, J S; Honer, W G

1997-01-01

Ample evidence supports sex differences in the clinical features of schizophrenia. In this regard, estrogen may contribute to later onset and less severe course of illness in women. Direct investigation of hormonal status in schizophrenia is extremely difficult. The present report documents the clinical features of schizophrenia in a young woman with long-standing hyperandrogenism related to polycystic ovarian disease. We postulate that hyperandrogenism contributed to a relatively early onset, olfactory dysfunction, and other clinical features of schizophrenia more commonly associated with men. Additionally, acute estrogen depletion following cessation of oral contraceptives may have precipitated psychosis, while recommencement of oral contraceptives could have contributed to subsequent improvement in symptoms. PMID:9002393

Cerebral gray matter volume in patients with chronic migraine: correlations with clinical features.

PubMed

Coppola, Gianluca; Petolicchio, Barbara; Di Renzo, Antonio; Tinelli, Emanuele; Di Lorenzo, Cherubino; Parisi, Vincenzo; Serrao, Mariano; Calistri, Valentina; Tardioli, Stefano; Cartocci, Gaia; Ambrosini, Anna; Caramia, Francesca; Di Piero, Vittorio; Pierelli, Francesco

2017-12-08

To date, few MRI studies have been performed in patients affected by chronic migraine (CM), especially in those without medication overuse. Here, we performed magnetic resonance imaging (MRI) voxel-based morphometry (VBM) analyses to investigate the gray matter (GM) volume of the whole brain in patients affected by CM. Our aim was to investigate whether fluctuations in the GM volumes were related to the clinical features of CM. Twenty untreated patients with CM without a past medical history of medication overuse underwent 3-Tesla MRI scans and were compared to a group of 20 healthy controls (HCs). We used SPM12 and the CAT12 toolbox to process the MRI data and to perform VBM analyses of the structural T1-weighted MRI scans. The GM volume of patients was compared to that of HCs with various corrected and uncorrected thresholds. To check for possible correlations, patients' clinical features and GM maps were regressed. Initially, we did not find significant differences in the GM volume between patients with CM and HCs (p < 0.05 corrected for multiple comparisons). However, using more-liberal uncorrected statistical thresholds, we noted that compared to HCs, patients with CM exhibited clusters of regions with lower GM volumes including the cerebellum, left middle temporal gyrus, left temporal pole/amygdala/hippocampus/pallidum/orbitofrontal cortex, and left occipital areas (Brodmann areas 17/18). The GM volume of the cerebellar hemispheres was negatively correlated with the disease duration and positively correlated with the number of tablets taken per month. No gross morphometric changes were observed in patients with CM when compared with HCs. However, using more-liberal uncorrected statistical thresholds, we observed that CM is associated with subtle GM volume changes in several brain areas known to be involved in nociception/antinociception, multisensory integration, and analgesic dependence. We speculate that these slight morphometric impairments could lead, at least in a subgroup of patients, to the development and continuation of maladaptive acute medication usage.

A practical guide to assessing clinical decision-making skills using the key features approach.

PubMed

Farmer, Elizabeth A; Page, Gordon

2005-12-01

This paper in the series on professional assessment provides a practical guide to writing key features problems (KFPs). Key features problems test clinical decision-making skills in written or computer-based formats. They are based on the concept of critical steps or 'key features' in decision making and represent an advance on the older, less reliable patient management problem (PMP) formats. The practical steps in writing these problems are discussed and illustrated by examples. Steps include assembling problem-writing groups, selecting a suitable clinical scenario or problem and defining its key features, writing the questions, selecting question response formats, preparing scoring keys, reviewing item quality and item banking. The KFP format provides educators with a flexible approach to testing clinical decision-making skills with demonstrated validity and reliability when constructed according to the guidelines provided.

Malaria investigation and treatment of children admitted to county hospitals in western Kenya.

PubMed

Amboko, Beatrice I; Ayieko, Philip; Ogero, Morris; Julius, Thomas; Irimu, Grace; English, Mike

2016-10-18

Up to 90 % of the global burden of malaria morbidity and mortality occurs in sub-Saharan Africa and children under-five bear a disproportionately high malaria burden. Effective inpatient case management can reduce severe malaria mortality and morbidity, but there are few reports of how successfully international and national recommendations are adopted in management of inpatient childhood malaria. A descriptive cross-sectional study of inpatient malaria case management practices was conducted using data collected over 24 months in five hospitals from high malaria risk areas participating in the Clinical Information Network (CIN) in Kenya. This study describes documented clinical features, laboratory investigations and treatment of malaria in children (2-59 months) and adherence to national guidelines. A total of 13,014 children had a malaria diagnosis on admission to the five hospitals between March, 2014 and February, 2016. Their median age was 24 months (IQR 12-36 months). The proportion with a diagnostic test for malaria requested was 11,981 (92.1 %). Of 10,388 patients with malaria test results documented, 8050 (77.5 %) were positive and anti-malarials were prescribed in 6745 (83.8 %). Malaria treatment was prescribed in 1613/2338 (69.0 %) children with a negative malaria result out of which only 52 (3.2 %) had a repeat malaria test done as recommended in national guidelines. Documentation of clinical features was good across all hospitals, but quinine remained the most prescribed malaria drug (47.2 % of positive cases) although a transition to artesunate (46.1 %) was observed. Although documented clinical features suggested approximately half of positive malaria patients were not severe cases artemether-lumefantrine was prescribed on admission in only 3.7 % cases. Despite improvements in inpatient malaria care, high rates of presumptive treatment for test negative children and likely over-use of injectable anti-malarial drugs were observed. Three years after national policy change, there is a gradual transition to artesunate. Continued efforts to support improved routine inpatient malaria care through dissemination and implementation of guidelines, and access to recommended drugs are needed together with improved capacity of hospitals to investigate other causes of severe illness in children. Efforts to improve clinical information could help track progress.

[Prostate histopathology of NIH category IV prostatitis detected by sextant prostate needle biopsy from the patients with high prostatic specific antigen].

PubMed

Shimomura, Tatsuya; Kiyota, Hiroshi; Takahashi, Hiroyuki; Madarame, Jun; Kimura, Takahiro; Onodera, Shouichi

2003-08-01

Asymptomatic prostatitis is classified as category IV in NIH classification of prostatitis syndrome (1999). No report concerning this category has been present. We investigated this category histopathologically and clinically, in order to clarify the histopathological distribution and its correlation to the clinical features, in this study. Among 785 patients who were suspected prostate cancer because of their high prostatic specific antigen (PSA) values and to have a sextant prostate needle biopsy was performed between January, 1996 and December, 2000, 88 patients (11.2%) were diagnosed as NIH category IV prostatitis (asymptomatic prostatitis). We observed all pathological specimens stained with Hematoxylin-Eosine, and classified them into subtypes according to the classification criteria for prostatitis defined by True et al. (1999). We also investigated the relationship between histopathological distribution and clinical features such as PSA values, PSA density, the incidence of pyuria or bacteriuria. In the histopathological study, grade distributions were 12.5% (11/88) in mild, 71.6% (63/88) in moderate, and 15.9% (14/88) in severe. Location distributions were 2.3% (2/88) in glandular, 68.2% (60/88) in periglandular, and 29.5% (26/88) in stromal. No relationship between these subtypes and clinical features was recognized statistically. However, 7 patients (7.95%) were diagnosed as prostate cancers, later. Pyuria was found in 29.1% (23/79). Bacteriuria was present in 14.3% (11/77). Isolated bacteria were 4 strains of Enterococcus faccalis, 2 strains of each of Pseudomonas aeruginosa and Staphylococcus aureus, and one strain of each of Escherichia coli, Klebsiella oxytoca, Enterobacter cloacae, Enterobacter aerogenes, Staphylococcus haemolyticus, and Staphylococcus epidermidis. Gram positive rod, and Candida sp. No relationship between these subtypes and bacterial species was recognized. These results indicated that the incidence of NIII category IV prostatits was not low without correlation to any clinical features. However, we should pay attention to the presence of prostate cancer, because a small number of the patients were diagnosed as prostate cancer, later.

Evaluation of Imaging Methods in Tick-Borne Encephalitis.

PubMed

Zawadzki, Radosław; Garkowski, Adam; Kubas, Bożena; Zajkowska, Joanna; Hładuński, Marcin; Jurgilewicz, Dorota; Łebkowska, Urszula

2017-01-01

Tick-borne encephalitis (TBE) is caused by a virus that belongs to the Flaviviridae family and is transmitted by tick bites. The disease has a biphasic course. Diagnosis is based on laboratory examinations because of non-specific clinical features, which usually entails the detection of specific IgM antibodies in either blood or cerebrospinal fluid that appear in the second phase of the disease. Neurological symptoms, time course of the disease, and imaging findings are multifaceted. During the second phase of the disease, after the onset of neurological symptoms, magnetic resonance imaging (MRI) abnormalities are observed in a limited number of cases. However, imaging features may aid in predicting the prognosis of the disease.

Sinonasal organised haematoma: clinical features and successful application of modified transnasal endoscopic medial maxillectomy.

PubMed

Suzuki, M; Nakamura, Y; Ozaki, S; Yokota, M; Murakami, S

2017-08-01

Although organised haematoma often induces bone thinning and destruction similar to malignant diseases, the aetiology of organised haematoma and the optimal treatment remain unclear. This paper presents the clinical features of individuals with organised haematoma, and describes cases in which a novel modified approach was successfully applied for resection of organised haematoma in the maxillary sinus. Pre-operative examination data were evaluated retrospectively. Modified transnasal endoscopic medial maxillectomy was employed. Fourteen patients with organised haematoma were treated. Contrast-enhanced computed tomography showed heterogeneous enhancement in all patients. Eight patients underwent modified transnasal endoscopic medial maxillectomy, without complications such as facial numbness, tooth numbness, facial tingling, lacrimation and eye discharge. Dissection of the apertura piriformis and anterior maxillary wall was not necessary for any of these eight patients. No recurrence was observed. Pre-operative examinations can be helpful in determining the likelihood of organised haematoma. Modified transnasal endoscopic medial maxillectomy appears to be a safe and effective method for organised haematoma resection.

Early onset intellectual disability in chromosome 22q11.2 deletion syndrome.

PubMed

Cascella, Marco; Muzio, Maria Rosaria

2015-01-01

Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven the greatest amount of attention are behavioral and developmental features, because individuals with 22q11.2 deletion syndrome have a 30-fold risk of developing schizophrenia. There are differing opinions about the cognitive development, and commonly a cognitive decline rather than an early onset intellectual disability has been observed. We report a case of 22q11.2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

High altitude pulmonary edema-clinical features, pathophysiology, prevention and treatment

PubMed Central

Paralikar, Swapnil J.

2012-01-01

High altitude pulmonary edema (HAPE) is a noncardiogenic pulmonary edema which typically occurs in lowlanders who ascend rapidly to altitudes greater than 2500-3000 m. Early symptoms of HAPE include a nonproductive cough, dyspnoea on exertion and reduced exercise performance. Later, dyspnoea occurs at rest. Clinical features are cyanosis, tachycardia, tachypnoea and elevated body temperature generally not exceeding 38.5°C. Rales are discrete initially and located over the middle lung fields. HAPE mainly occurs due to exaggerated hypoxic pulmonary vasoconstriction and elevated pulmonary artery pressure. It has been observed that HAPE is a high permeability type of edema occurring also due to leaks in the capillary wall (‘stress failure’). Slow descent is the most effective method for prevention; in addition, graded ascent and time for acclimatization, low sleeping altitudes, avoidance of alcohol and sleeping pills, and avoidance of exercise are the key to preventing HAPE. Treatment of HAPE consists of immediate improvement of oxygenation either by supplemental oxygen, hyperbaric treatment, or by rapid descent. PMID:23580834

Haemophilus influenzae pneumonia in human immunodeficiency virus-infected patients. The Grupo Andaluz para el Estudio de las Enfermedades Infecciosas.

PubMed

Cordero, E; Pachón, J; Rivero, A; Girón, J A; Gómez-Mateos, J; Merino, M D; Torres-Tortosa, M; González-Serrano, M; Aliaga, L; Collado, A; Hernández-Quero, J; Barrera, A; Nuño, E

2000-03-01

Although Haemophilus influenzae is a common etiologic agent of pneumonia in patients infected with human immunodeficiency virus (HIV), the characteristics of this pneumonia have not been adequately assessed. We have prospectively studied features of H. influenzae pneumonia in 26 consecutive HIV-infected inpatients. Most of these patients were severely immunosuppressed; 73.1% had a CD4+ cell count <100/microL. A subacute clinical presentation was observed in 27% of the patients and was associated with a higher degree of immunosuppression (P=.04). Bilateral lung infiltrates were noted radiographically in 57.7% of the cases. The mortality attributable to H. influenzae pneumonia was 11.5%. Thus, pneumonia caused by H. influenzae affects mainly patients with advanced HIV disease, and since its clinical and radiological features may be diverse, this etiology should be considered when pneumonia occurs in patients with advanced HIV infection. The mortality rate associated with H. influenzae pneumonia is not higher than that occurring in the general population.

Clinical, morphologic, and immunohistochemical features of canine orbital hibernomas.

PubMed

Ravi, M; Schobert, C S; Kiupel, M; Dubielzig, R R

2014-05-01

Hibernomas are uncommon benign tumors of brown fat that occur in humans and various animal species. They have not been observed in the orbit of dogs, humans, or other animals. Here we report clinical, light and electron microscopic, and immunohistochemical features of a series of 7 hibernomas arising in the orbital region of dogs. These neoplasms occurred in adult dogs with no breed predilection. The mean age of the affected dogs was 10.4 years (range, 8-13 years). All neoplasms presented as soft lobular masses composed of predominantly round or polygonal neoplastic cells with granular eosinophilic and vacuolated cytoplasm resembling adipocytes. The cytoplasm contained large numbers of pleomorphic mitochondria with dense matrices and indistinct cristae. Immunohistochemical evaluation confirmed positive labeling of neoplastic cells from all cases with uncoupling protein 1 (UCP-1) consistent with brown fat differentiation. Interestingly, rare neoplastic cells also expressed myogenin and myoD, possibly suggesting a common progenitor cell for neoplastic brown adipose and skeletal muscle cells.

Asthma-like Features and Clinical Course of Chronic Obstructive Pulmonary Disease. An Analysis from the Hokkaido COPD Cohort Study.

PubMed

Suzuki, Masaru; Makita, Hironi; Konno, Satoshi; Shimizu, Kaoruko; Kimura, Hiroki; Kimura, Hirokazu; Nishimura, Masaharu

2016-12-01

Some patients with chronic obstructive pulmonary disease (COPD) have asthma-like features, such as significant bronchodilator reversibility, blood eosinophilia, and/or atopy, even if they are not clinically diagnosed as having asthma. However, the clinical significance of asthma-like features overlapping with COPD remains unclear. The aim of this study was to assess the effect of asthma-like features on the clinical course of patients with COPD who were adequately treated and followed-up over 10 years. A total of 268 patients with COPD who had been clinically considered as not having asthma by respiratory specialists were included in this study. The asthma-like features included in this study were bronchodilator reversibility (ΔFEV 1 , ≥12% and ≥200 ml), blood eosinophilia (≥300 cells/μl), and atopy (positive specific IgE for any inhaled antigen). The annual changes in post-bronchodilator FEV 1 and COPD exacerbations were monitored during the first 5 years, and mortality was followed during the entire 10 years of the study. Fifty-seven subjects (21%) had bronchodilator reversibility, 52 (19%) had blood eosinophilia, and 67 (25%) had atopy. Subjects with blood eosinophilia had significantly slower annual post-bronchodilator FEV 1 decline; bronchodilator reversibility and atopy did not affect the annual post-bronchodilator FEV 1 decline, and none of the asthma-like features was associated with development of COPD exacerbation. Even if subjects had two or more asthma-like features, they displayed annual post-bronchodilator FEV 1 declines and exacerbation rates similar to those of subjects with one or zero asthma-like features, as well as a lower 10-year mortality rate (P = 0.02). The presence of asthma-like features was associated with better clinical course in patients with COPD receiving appropriate treatment.

Transparent Reporting of Data Quality in Distributed Data Networks

PubMed Central

Kahn, Michael G.; Brown, Jeffrey S.; Chun, Alein T.; Davidson, Bruce N.; Meeker, Daniella; Ryan, Patrick B.; Schilling, Lisa M.; Weiskopf, Nicole G.; Williams, Andrew E.; Zozus, Meredith Nahm

2015-01-01

Introduction: Poor data quality can be a serious threat to the validity and generalizability of clinical research findings. The growing availability of electronic administrative and clinical data is accompanied by a growing concern about the quality of these data for observational research and other analytic purposes. Currently, there are no widely accepted guidelines for reporting quality results that would enable investigators and consumers to independently determine if a data source is fit for use to support analytic inferences and reliable evidence generation. Model and Methods: We developed a conceptual model that captures the flow of data from data originator across successive data stewards and finally to the data consumer. This “data lifecycle” model illustrates how data quality issues can result in data being returned back to previous data custodians. We highlight the potential risks of poor data quality on clinical practice and research results. Because of the need to ensure transparent reporting of a data quality issues, we created a unifying data-quality reporting framework and a complementary set of 20 data-quality reporting recommendations for studies that use observational clinical and administrative data for secondary data analysis. We obtained stakeholder input on the perceived value of each recommendation by soliciting public comments via two face-to-face meetings of informatics and comparative-effectiveness investigators, through multiple public webinars targeted to the health services research community, and with an open access online wiki. Recommendations: Our recommendations propose reporting on both general and analysis-specific data quality features. The goals of these recommendations are to improve the reporting of data quality measures for studies that use observational clinical and administrative data, to ensure transparency and consistency in computing data quality measures, and to facilitate best practices and trust in the new clinical discoveries based on secondary use of observational data. PMID:25992385

Features Associated with Successful Recruitment of Diverse Patients onto Cancer Clinical Trials: Report from the American College of Surgeons Oncology Group

PubMed Central

Diehl, Kathleen M.; Green, Erin M.; Weinberg, Armin; Frederick, Wayne A.; Holmes, Dennis R.; Green, Bettye; Morris, Arden; Kuerer, Henry M.; Beltran, Robert A.; Mendez, Jane; Gines, Venus; Ota, David M.; Nelson, Heidi; Newman, Lisa A.

2018-01-01

Background The clinical trials mechanism of standardized treatment and follow-up for cancer patients with similar stages and patterns of disease is the most powerful approach available for evaluating the efficacy of novel therapies, and clinical trial participation should protect against delivery of care variations associated with racial/ethnic identity and/or socioeconomic status. Unfortunately, disparities in clinical trial accrual persist, with African Americans (AA) and Hispanic/Latino Americans (HA) underrepresented in most studies. Study Design We evaluated the accrual patterns for ten clinical trials conducted by the American College of Surgeons Oncology Group (ACOSOG) 1999–2009, and analyzed results by race/ethnicity as well as study design. Results Eight of ten protocols were successful in recruiting AA and/or HA participants; three of four randomized trials were successful. Features that were present among all of the successfully-recruiting protocols were: (i) studies designed to recruit patients with regional or advanced-stage disease (2/2 protocols); and (ii) studies that involved some investigational systemic therapy (3/3 protocols). Discussion AA and HA cancer patients can be successfully accrued onto randomized clinical trials, but study design affects recruitment patterns. Increased socioeconomic disadvantages observed within minority-ethnicity communities results in barriers to screening and more advanced cancer stage distribution. Improving cancer early detection is critical in the effort to eliminate outcome disparities but existing differences in disease burden results in diminished eligibility for early-stage cancer clinical trials among minority-ethnicity patients. PMID:21681382

Transient hyperthyroidism of hyperemesis gravidarum.

PubMed

Tan, Jackie Y L; Loh, Keh Chuan; Yeo, George S H; Chee, Yam Cheng

2002-06-01

To characterise the clinical, biochemical and thyroid antibody profile in women with transient hyperthyroidism of hyperemesis gravidarum. Prospective observational study. Hospital inpatient gynaecological ward. Women admitted with hyperemesis gravidarum and found to have hyperthyroidism. Fifty-three women were admitted with hyperemesis gravidarum and were found to have hyperthyroidism. Each woman was examined for clinical signs of thyroid disease and underwent investigations including urea, creatinine, electrolytes, liver function test, thyroid antibody profile and serial thyroid function test until normalisation. Gestation at which thyroid function normalised, clinical and thyroid antibody profile and pregnancy outcome (birthweight, gestation at delivery and Apgar score at 5 minutes). Full data were available for 44 women. Free T4 levels normalised by 15 weeks of gestation in the 39 women with transient hyperthyroidism while TSH remained suppressed until 19 weeks of gestation. None of these women were clinically hyperthyroid. Thyroid antibodies were not found in most of them. Median birthweight in the infants of mothers who experienced weight loss of > 5% of their pre-pregnancy weight was lower compared with those of women who did not (P = 0.093). Five women were diagnosed with Graves' disease based on clinical features and thyroid antibody profile. In transient hyperthyroidism of hyperemesis gravidarum, thyroid function normalises by the middle of the second trimester without anti-thyroid treatment. Clinically overt hyperthyroidism and thyroid antibodies are usually absent. Apart from a non-significant trend towards lower birthweights in the infants of mothers who experienced significant weight loss, pregnancy outcome was generally good. Routine assessment of thyroid function is unnecessary for women with hyperemesis gravidarum in the absence of any clinical features of hyperthyroidism.

A deep learning model observer for use in alterative forced choice virtual clinical trials

NASA Astrophysics Data System (ADS)

Alnowami, M.; Mills, G.; Awis, M.; Elangovanr, P.; Patel, M.; Halling-Brown, M.; Young, K. C.; Dance, D. R.; Wells, K.

2018-03-01

Virtual clinical trials (VCTs) represent an alternative assessment paradigm that overcomes issues of dose, high cost and delay encountered in conventional clinical trials for breast cancer screening. However, to fully utilize the potential benefits of VCTs requires a machine-based observer that can rapidly and realistically process large numbers of experimental conditions. To address this, a Deep Learning Model Observer (DLMO) was developed and trained to identify lesion targets from normal tissue in small (200 x 200 pixel) image segments, as used in Alternative Forced Choice (AFC) studies. The proposed network consists of 5 convolutional layers with 2x2 kernels and ReLU (Rectified Linear Unit) activations, followed by max pooling with size equal to the size of the final feature maps and three dense layers. The class outputs weights from the final fully connected dense layer are used to consider sets of n images in an n-AFC paradigm to determine the image most likely to contain a target. To examine the DLMO performance on clinical data, a training set of 2814 normal and 2814 biopsy-confirmed malignant mass targets were used. This produced a sensitivity of 0.90 and a specificity of 0.92 when presented with a test data set of 800 previously unseen clinical images. To examine the DLMOs minimum detectable contrast, a second dataset of 630 simulated backgrounds and 630 images with simulated lesion and spherical targets (4mm and 6mm diameter), produced contrast thresholds equivalent to/better than human observer performance for spherical targets, and comparable (12 % difference) for lesion targets.

Positive state observer for the automatic control of the depth of anesthesia-Clinical results.

PubMed

Nogueira, Filipa N; Mendonça, T; Rocha, P

2016-09-13

The depth of anesthesia (DoA) is a crucial feature in general anesthesia. Nowadays the DoA is usually evaluated by the bispectral index (BIS). According to the surgical procedure, different reference levels for the BIS may be clinically required. This can be achieved by the simultaneous administration of an analgesic (e.g. remifentanil) and an hypnotic (eg propofol). As a contribution to the effort of automating the processes of drug delivery in general anesthesia, in this paper, a positive state observer is designed for the implementation of a control scheme proposed for the automatic administration of propofol and of remifentanil, in order to track a desired level for the BIS. It is proved and illustrated by simulations that the controller-observer scheme has a very good performance. This scheme was implemented, tested and evaluated both by means of simulations and for a set of patients during surgical procedures. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Complex posttraumatic stress disorder: The need to consolidate a distinct clinical syndrome or to reevaluate features of psychiatric disorders following interpersonal trauma?

PubMed

Giourou, Evangelia; Skokou, Maria; Andrew, Stuart P; Alexopoulou, Konstantina; Gourzis, Philippos; Jelastopulu, Eleni

2018-03-22

Complex posttraumatic stress disorder (Complex PTSD) has been recently proposed as a distinct clinical entity in the WHO International Classification of Diseases, 11 th version, due to be published, two decades after its first initiation. It is described as an enhanced version of the current definition of PTSD, with clinical features of PTSD plus three additional clusters of symptoms namely emotional dysregulation, negative self-cognitions and interpersonal hardship, thus resembling the clinical features commonly encountered in borderline personality disorder (BPD). Complex PTSD is related to complex trauma which is defined by its threatening and entrapping context, generally interpersonal in nature. In this manuscript, we review the current findings related to traumatic events predisposing the above-mentioned disorders as well as the biological correlates surrounding them, along with their clinical features. Furthermore, we suggest that besides the present distinct clinical diagnoses (PTSD; Complex PTSD; BPD), there is a cluster of these comorbid disorders, that follow a continuum of trauma and biological severity on a spectrum of common or similar clinical features and should be treated as such. More studies are needed to confirm or reject this hypothesis, particularly in clinical terms and how they correlate to clinical entities' biological background, endorsing a shift from the phenomenologically only classification of psychiatric disorders towards a more biologically validated classification.

Evaluation of features to support safety and quality in general practice clinical software

PubMed Central

2011-01-01

Background Electronic prescribing is now the norm in many countries. We wished to find out if clinical software systems used by general practitioners in Australia include features (functional capabilities and other characteristics) that facilitate improved patient safety and care, with a focus on quality use of medicines. Methods Seven clinical software systems used in general practice were evaluated. Fifty software features that were previously rated as likely to have a high impact on safety and/or quality of care in general practice were tested and are reported here. Results The range of results for the implementation of 50 features across the 7 clinical software systems was as follows: 17-31 features (34-62%) were fully implemented, 9-13 (18-26%) partially implemented, and 9-20 (18-40%) not implemented. Key findings included: Access to evidence based drug and therapeutic information was limited. Decision support for prescribing was available but varied markedly between systems. During prescribing there was potential for medicine mis-selection in some systems, and linking a medicine with its indication was optional. The definition of 'current medicines' versus 'past medicines' was not always clear. There were limited resources for patients, and some medicines lists for patients were suboptimal. Results were provided to the software vendors, who were keen to improve their systems. Conclusions The clinical systems tested lack some of the features expected to support patient safety and quality of care. Standards and certification for clinical software would ensure that safety features are present and that there is a minimum level of clinical functionality that clinicians could expect to find in any system.

Permanent alopecia in patients with breast cancer after taxane chemotherapy and adjuvant hormonal therapy: Clinicopathologic findings in a cohort of 10 patients.

PubMed

Fonia, Athina; Cota, Carlo; Setterfield, Jane F; Goldberg, Lynne J; Fenton, David A; Stefanato, Catherine M

2017-05-01

Anagen effluvium with reversible scalp alopecia is a known side effect of chemotherapy. However, there are an increasing number of reports in the literature documenting permanent alopecia in patients treated with taxanes. We sought to describe the clinicopathologic features in breast cancer patients who underwent treatment with taxanes and adjuvant hormonal chemotherapy. We reviewed the clinical and histopathologic information of a cohort of 10 patients treated with taxanes and adjuvant hormonal chemotherapy. We have observed 3 types of clinical patterns of alopecia (types A, B, and C), and have validated the histopathologic features showing alopecia areata-like and female pattern hair loss. The study was based on a small sample size and retrospective retrieval of clinical information and histopathologic review of posttreatment slides. We hypothesize a clinicopathologic model of hair follicle cycle disruption in response to the chemoinflammatory and hormonal insults to the hair follicles resulting in permanent alopecia. Clinicopathologic correlation is paramount to the understanding of the morphobiologic pathways in chemotherapy-induced alopecia caused by taxanes and adjuvant hormonal treatment. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

Clinical features and treatment outcomes of vancomycin-intermediate Staphylococcus aureus (VISA) and heteroresistant vancomycin-intermediate Staphylococcus aureus (hVISA) in a tertiary care institution in Singapore.

PubMed

Fong, R K C; Low, J; Koh, T H; Kurup, A

2009-08-01

This retrospective case-control study was undertaken to review the clinical features associated with heteroresistant vancomycin-intermediate Staphylococcus aureus (hVISA) and vancomycin-intermediate S. aureus (VISA) infections and the local impact they have on clinical outcome. Compared with vancomycin-susceptible S. aureus (n = 30), hVISA and VISA infections (n = 10) are found to be associated with a longer period of prior glycopeptide use (P = 0.01), bone/joint (P < 0.01) and prosthetic infections (P = 0.04), as well as treatment failure, as evidenced by longer bacteremic (P < 0.01) and culture positivity (P < 0.01) periods. This was observed to have resulted in longer hospital length of stay (P < 0.01) and total antibiotic therapy duration (P = 0.01). There was, however, no significant difference in the overall patient mortality or the hospitalization cost (P = 0.12) in both groups. Clinicians should be cognizant of the association between hVISA/VISA with high bacterial load deep-seated infections. We recommend targeted and even universal screening for hVISA/VISA in methicillin-resistant S. aureus (MRSA) infections.

Understanding COPD-overlap syndromes.

PubMed

Poh, Tuang Yeow; Mac Aogáin, Micheál; Chan, Adrian Kwok Wai; Yii, Anthony Chau Ang; Yong, Valerie Fei Lee; Tiew, Pei Yee; Koh, Mariko Siyue; Chotirmall, Sanjay Haresh

2017-04-01

Chronic obstructive pulmonary disease accounts for a large burden of lung disease. It can 'overlap' with other respiratory diseases including bronchiectasis, fibrosis and obstructive sleep apnea (OSA). While COPD alone confers morbidity and mortality, common features with contrasting clinical outcomes can occur in COPD 'overlap syndromes'. Areas covered: Given the large degree of heterogeneity in COPD, individual variation to treatment is adopted based on its observed phenotype, which in turn overlaps with features of other respiratory disease states such as asthma. This is coined asthma-COPD overlap syndrome ('ACOS'). Other examples of such overlapping clinical states include bronchiectasis-COPD ('BCOS'), fibrosis-COPD ('FCOS') and OSA-COPD ('OCOS'). The objective of this review is to highlight similarities and differences between the COPD-overlap syndromes in terms of risk factors, pathophysiology, diagnosis and potential treatment differences. Expert commentary: As a consequence of COPD overlap syndromes, a transition from the traditional 'one size fits all' treatment approach is necessary. Greater treatment stratification according to clinical phenotype using a precision medicine approach is now required. In this light, it is important to recognize and differentiate COPD overlap syndromes as distinct disease states compared to individual diseases such as asthma, COPD, fibrosis or bronchiectasis.

Identification of Chinese medicine syndromes in persistent insomnia associated with major depressive disorder: a latent tree analysis.

PubMed

Yeung, Wing-Fai; Chung, Ka-Fai; Zhang, Nevin Lian-Wen; Zhang, Shi Ping; Yung, Kam-Ping; Chen, Pei-Xian; Ho, Yan-Yee

2016-01-01

Chinese medicine (CM) syndrome (zheng) differentiation is based on the co-occurrence of CM manifestation profiles, such as signs and symptoms, and pulse and tongue features. Insomnia is a symptom that frequently occurs in major depressive disorder despite adequate antidepressant treatment. This study aims to identify co-occurrence patterns in participants with persistent insomnia and major depressive disorder from clinical feature data using latent tree analysis, and to compare the latent variables with relevant CM syndromes. One hundred and forty-two participants with persistent insomnia and a history of major depressive disorder completed a standardized checklist (the Chinese Medicine Insomnia Symptom Checklist) specially developed for CM syndrome classification of insomnia. The checklist covers symptoms and signs, including tongue and pulse features. The clinical features assessed by the checklist were analyzed using Lantern software. CM practitioners with relevant experience compared the clinical feature variables under each latent variable with reference to relevant CM syndromes, based on a previous review of CM syndromes. The symptom data were analyzed to build the latent tree model and the model with the highest Bayes information criterion score was regarded as the best model. This model contained 18 latent variables, each of which divided participants into two clusters. Six clusters represented more than 50 % of the sample. The clinical feature co-occurrence patterns of these six clusters were interpreted as the CM syndromes Liver qi stagnation transforming into fire, Liver fire flaming upward, Stomach disharmony, Hyperactivity of fire due to yin deficiency, Heart-kidney noninteraction, and Qi deficiency of the heart and gallbladder. The clinical feature variables that contributed significant cumulative information coverage (at least 95 %) were identified. Latent tree model analysis on a sample of depressed participants with insomnia revealed 13 clinical feature co-occurrence patterns, four mutual-exclusion patterns, and one pattern with a single clinical feature variable.

Lupus erythematosus tumidus: a clinical and histological study of 25 cases.

PubMed

Rodriguez-Caruncho, C; Bielsa, I; Fernández-Figueras, M T; Roca, J; Carrascosa, J M; Ferrándiz, C

2015-06-01

Lupus erythematosus tumidus (LET) is a subtype of cutaneous lupus erythematosus (CLE) that has been well characterized in recent years. However, some controversy still remains concerning the histological features of epidermal involvement. The objective of this report is to describe the clinical and microscopic features of LET in patients diagnosed at Hospital Universitari Germans Trias i Pujol, Spain. We conducted a retrospective study of 25 patients with a diagnosis of LET. All patients presented with typical LET lesions (smooth, erythematous plaques without macroscopic epidermal changes, such as follicular plugs or scale, that resolved without residual scarring or hypopigmentation). None of the patients fulfilled the criteria for systemic lupus erythematosus during follow-up. Test results for antinuclear antibodies were positive in five patients (20%), with titres below one of 320 in all cases. Twenty-two patients (88%) required antimalarial therapy; response was good in 70% and moderate response in 30%. Minor epidermal alterations were observed in 52% of biopsy specimens, with focal basal vacuolization being the most frequent. LET is a variant of CLE that has distinctive clinical, histologic and prognostic features. Unlike the patients in the case series previously described in the literature, most of our patients required treatment with antimalarials. Histology revealed mild epidermal alterations in a significant percentage of patients. Thus, in our opinion, the absence of microscopic epidermal alterations is not constant in LET. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Differential diagnosis of nonepileptic twilight state with convulsive manifestations after febrile seizures.

PubMed

Miyahara, Hiroyuki; Akiyama, Tomoyuki; Waki, Kenji; Arakaki, Yoshio

2018-06-01

Nonepileptic twilight state with convulsive manifestations (NETC) is a nonepileptic state following a febrile seizure (FS), which may be misdiagnosed as a prolonged seizure and result in overtreatment. We aimed to describe clinical manifestations of NETC and to determine characteristics that are helpful to distinguish NETC from other pathological conditions. We conducted a retrospective chart review from January 2010 to December 2016 and selected the patients who presented with symptoms resembling status epilepticus with fever and a confirmed diagnosis using an electroencephalogram (EEG). We compared the NETC clinical features and venous blood gas analysis results with those of other conditions that mimic NETC. We also compared the characteristics of NETC with past reports. Our NETC patients presented with short durations of the preceding generalized convulsions followed by tonic posturing, closed eyes, no cyanosis, responsiveness to painful stimulation, and no accumulation of CO 2 in the venous blood gas. Most of these characteristics were consistent with past reports. Prolonged FS or acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) showed several of these features, but all the characteristics were not consistent with our study. Prolonged FS and AESD need to be differentiated from NETC, and close clinical observation makes it possible to partially distinguish NETC from the other conditions. EEG is recommended for patients with symptoms that are inconsistent with these features. Copyright © 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.

PubMed

Jia, Bei; Huang, Liping; Chen, Yaoyu; Liu, Siping; Chen, Cuihua; Xiong, Ke; Song, Lanlin; Zhou, Yulai; Yang, Xinping; Zhong, Mei

2017-12-01

Contiguous microdeletions of the Norrie disease pseudoglioma (NDP) region on chromosome Xp11.3 have been widely confirmed as contributing to the typical clinical features of Norrie disease (ND). However, the precise relation between genotype and phenotype could vary. The contiguous deletion of NDP and its neighbouring genes, MAOA/B and EFHC2, reportedly leads to syndromic clinical features such as microcephaly, intellectual disability, and epilepsy. Herewe report a novel contiguous microdeletion of the NDP region containing the MAOB and EFHC2 genes,which causes eye defects but no cognitive disability.We detected a deletion of 494.6 kb atXp11.3 in both the proband and carrier mother. This deletionwas then used as the molecular marker in prenatal diagnosis for two subsequent pregnancies. The deletion was absent in one of the foetuses, who remain without any abnormalities at 2 years of age. The proband shows the typical ocular clinical features of ND including bilateral retinal detachment, microphthalmia, atrophic irides, corneal opacification, and cataracts, but no symptoms of microcephaly, intellectual disability, and epilepsy. This familial study demonstrates that a deficiency in one of two MAO genes may not lead to psychomotor delay, and deletion of EFHC2 may not cause epilepsy. Our observations provide new information on the genotype-phenotype relations of MAOA/B and EFHC2 genes involved in the contiguous deletions of ND.

Clinical features and treatment outcome of non-small cell lung cancer (NSCLC) patients with uncommon or complex epidermal growth factor receptor (EGFR) mutations

PubMed Central

Fassan, Matteo; Indraccolo, Stefano; Calabrese, Fiorella; Favaretto, Adolfo; Bonanno, Laura; Polo, Valentina; Zago, Giulia; Lunardi, Francesca; Attili, Ilaria; Pavan, Alberto; Rugge, Massimo; Guarneri, Valentina; Conte, PierFranco; Pasello, Giulia

2017-01-01

Introduction Tyrosine-kinase inhibitors (TKIs) represent the best treatment for advanced non-small cell lung cancer (NSCLC) with common exon 19 deletion or exon 21 epidermal growth factor receptor mutation (EGFRm). This is an observational study investigating epidemiology, clinical features and treatment outcome of NSCLC cases harbouring rare/complex EGFRm. Results Among 764 non-squamous NSCLC cases with known EGFRm status, 26(3.4%) harboured rare/complex EGFRm. Patients receiving first-line TKIs (N = 17) achieved median Progression Free Survival (PFS) and Overall Survival (OS) of 53 (IC 95%, 2–105) and 84 (CI 95%, 27–141) weeks respectively, without significant covariate impact. Response Rate and Disease Control Rate (DCR) were 47% and 65%, respectively. Uncommon exon 19 mutations achieved longer OS and PFS and higher DCR compared with exon 18 and 20 mutations. No additional gene mutation was discovered by MassARRAY analysis. TKIs were globally well tolerated. Materials and methods A retrospective review of advanced non-squamous NSCLC harbouring rare/complex EGFRm referred to our Center between 2010 and 2015 was performed. Additional molecular pathways disregulation was explored in selected cases, through MassARRAY analysis. Conclusions Peculiar clinical features and lower TKIs sensitivity of uncommon/complex compared with common EGFRm were shown. Exon 19 EGFRm achieved the best TKIs treatment outcome, while the optimal treatment of exon 18 and 20 mutations should be further clarified. PMID:28427238

Incidence, epidemiology and clinical features of Kawasaki disease in Catalonia, Spain.

PubMed

Sánchez-Manubens, Judith; Antón, Jordi; Bou, Rosa; Iglesias, Estíbaliz; Calzada-Hernandez, Joan

2016-01-01

To assess the incidence, epidemiology and clinical features of Kawasaki disease (KD) in Catalonia (northeast region of Spain). This was an observational population-based study including all Paediatric Units in Catalonia, under both public and private management. Retrospective data retrieval was performed for 10 years (2004-2013). A 12-month (March 2013 to March 2014) prospective collection of new cases of KD was carried out to determine the incidence of KD. Data from 399 patients over the 10-year study period was analysed, revealing that 233 (58.4%) had complete KD, 159 (39.8) incomplete KD and 7 (1.7%) were considered atypical KD. Mean annual incidence was 3.5/105 children <14 years old (yo) and 8/105 children <5 yo (mean age 37±33 months, range 1.3-191.3). KD was more frequent in boys (59.6%, p<0.001) and in rural areas (p<0.001). Patients with IVIG non-responsiveness, need of a 2(nd) IVIG dose, delay of treatment >10(th) day of illness, ages <1 yo and >8 yo and the presence of sterile piuria, aseptic meningitis, abdominal pain and uveitis at diagnosis were found to have higher risk of coronary aneurisms (CAA) (p<0.05). This is the first population-based study on the epidemiology of KD in the western Mediterranean area. Incidence, clinical features and treatment plans in our cohort are similar to those described in other European studies.

Postmenopausal Women with a History of Irregular Menses and Elevated Androgen Measurements at High Risk for Worsening Cardiovascular Event-Free Survival: Results from the National Institutes of Health—National Heart, Lung, and Blood Institute Sponsored Women’s Ischemia Syndrome Evaluation

PubMed Central

Shaw, Leslee J.; Bairey Merz, C. Noel; Azziz, Ricardo; Stanczyk, Frank Z.; Sopko, George; Braunstein, Glenn D.; Kelsey, Sheryl F.; Kip, Kevin E.; Cooper-DeHoff, Rhonda M.; Johnson, B. Delia; Vaccarino, Viola; Reis, Steven E.; Bittner, Vera; Hodgson, T. Keta; Rogers, William; Pepine, Carl J.

2008-01-01

Background: Women with polycystic ovary syndrome (PCOS) have a greater clustering of cardiac risk factors. However, the link between PCOS and cardiovascular (CV) disease is incompletely described. Objective: The aim of this analysis was to evaluate the risk of CV events in 390 postmenopausal women enrolled in the National Institutes of Health–National Heart, Lung, and Blood Institute (NIH-NHLBI) sponsored Women’s Ischemia Syndrome Evaluation (WISE) study according to clinical features of PCOS. Methods: A total of 104 women had clinical features of PCOS defined by a premenopausal history of irregular menses and current biochemical evidence of hyperandrogenemia. Hyperandrogenemia was defined as the top quartile of androstenedione (≥701 pg/ml), testosterone (≥30.9 ng/dl), or free testosterone (≥4.5 pg/ml). Cox proportional hazard model was fit to estimate CV death or myocardial infarction (n = 55). Results: Women with clinical features of PCOS were more often diabetic (P < 0.0001), obese (P = 0.005), had the metabolic syndrome (P < 0.0001), and had more angiographic coronary artery disease (CAD) (P = 0.04) compared to women without clinical features of PCOS. Cumulative 5-yr CV event-free survival was 78.9% for women with clinical features of PCOS (n = 104) vs. 88.7% for women without clinical features of PCOS (n = 286) (P = 0.006). PCOS remained a significant predictor (P < 0.01) in prognostic models including diabetes, waist circumference, hypertension, and angiographic CAD as covariates. Conclusion: Among postmenopausal women evaluated for suspected ischemia, clinical features of PCOS are associated with more angiographic CAD and worsening CV event-free survival. Identification of postmenopausal women with clinical features of PCOS may provide an opportunity for risk factor intervention for the prevention of CAD and CV events. PMID:18182456

Postmenopausal women with a history of irregular menses and elevated androgen measurements at high risk for worsening cardiovascular event-free survival: results from the National Institutes of Health--National Heart, Lung, and Blood Institute sponsored Women's Ischemia Syndrome Evaluation.

PubMed

Shaw, Leslee J; Bairey Merz, C Noel; Azziz, Ricardo; Stanczyk, Frank Z; Sopko, George; Braunstein, Glenn D; Kelsey, Sheryl F; Kip, Kevin E; Cooper-Dehoff, Rhonda M; Johnson, B Delia; Vaccarino, Viola; Reis, Steven E; Bittner, Vera; Hodgson, T Keta; Rogers, William; Pepine, Carl J

2008-04-01

Women with polycystic ovary syndrome (PCOS) have a greater clustering of cardiac risk factors. However, the link between PCOS and cardiovascular (CV) disease is incompletely described. The aim of this analysis was to evaluate the risk of CV events in 390 postmenopausal women enrolled in the National Institutes of Health-National Heart, Lung, and Blood Institute (NIH-NHLBI) sponsored Women's Ischemia Syndrome Evaluation (WISE) study according to clinical features of PCOS. A total of 104 women had clinical features of PCOS defined by a premenopausal history of irregular menses and current biochemical evidence of hyperandrogenemia. Hyperandrogenemia was defined as the top quartile of androstenedione (> or = 701 pg/ml), testosterone (> or = 30.9 ng/dl), or free testosterone (> or = 4.5 pg/ml). Cox proportional hazard model was fit to estimate CV death or myocardial infarction (n = 55). Women with clinical features of PCOS were more often diabetic (P < 0.0001), obese (P = 0.005), had the metabolic syndrome (P < 0.0001), and had more angiographic coronary artery disease (CAD) (P = 0.04) compared to women without clinical features of PCOS. Cumulative 5-yr CV event-free survival was 78.9% for women with clinical features of PCOS (n = 104) vs. 88.7% for women without clinical features of PCOS (n = 286) (P = 0.006). PCOS remained a significant predictor (P < 0.01) in prognostic models including diabetes, waist circumference, hypertension, and angiographic CAD as covariates. Among postmenopausal women evaluated for suspected ischemia, clinical features of PCOS are associated with more angiographic CAD and worsening CV event-free survival. Identification of postmenopausal women with clinical features of PCOS may provide an opportunity for risk factor intervention for the prevention of CAD and CV events.

Electronic health record analysis via deep poisson factor models

DOE Office of Scientific and Technical Information (OSTI.GOV)

Henao, Ricardo; Lu, James T.; Lucas, Joseph E.

Electronic Health Record (EHR) phenotyping utilizes patient data captured through normal medical practice, to identify features that may represent computational medical phenotypes. These features may be used to identify at-risk patients and improve prediction of patient morbidity and mortality. We present a novel deep multi-modality architecture for EHR analysis (applicable to joint analysis of multiple forms of EHR data), based on Poisson Factor Analysis (PFA) modules. Each modality, composed of observed counts, is represented as a Poisson distribution, parameterized in terms of hidden binary units. In-formation from different modalities is shared via a deep hierarchy of common hidden units. Activationmore » of these binary units occurs with probability characterized as Bernoulli-Poisson link functions, instead of more traditional logistic link functions. In addition, we demon-strate that PFA modules can be adapted to discriminative modalities. To compute model parameters, we derive efficient Markov Chain Monte Carlo (MCMC) inference that scales efficiently, with significant computational gains when compared to related models based on logistic link functions. To explore the utility of these models, we apply them to a subset of patients from the Duke-Durham patient cohort. We identified a cohort of over 12,000 patients with Type 2 Diabetes Mellitus (T2DM) based on diagnosis codes and laboratory tests out of our patient population of over 240,000. Examining the common hidden units uniting the PFA modules, we identify patient features that represent medical concepts. Experiments indicate that our learned features are better able to predict mortality and morbidity than clinical features identified previously in a large-scale clinical trial.« less

Electronic health record analysis via deep poisson factor models

DOE PAGES

Henao, Ricardo; Lu, James T.; Lucas, Joseph E.; ...

2016-01-01

Electronic Health Record (EHR) phenotyping utilizes patient data captured through normal medical practice, to identify features that may represent computational medical phenotypes. These features may be used to identify at-risk patients and improve prediction of patient morbidity and mortality. We present a novel deep multi-modality architecture for EHR analysis (applicable to joint analysis of multiple forms of EHR data), based on Poisson Factor Analysis (PFA) modules. Each modality, composed of observed counts, is represented as a Poisson distribution, parameterized in terms of hidden binary units. In-formation from different modalities is shared via a deep hierarchy of common hidden units. Activationmore » of these binary units occurs with probability characterized as Bernoulli-Poisson link functions, instead of more traditional logistic link functions. In addition, we demon-strate that PFA modules can be adapted to discriminative modalities. To compute model parameters, we derive efficient Markov Chain Monte Carlo (MCMC) inference that scales efficiently, with significant computational gains when compared to related models based on logistic link functions. To explore the utility of these models, we apply them to a subset of patients from the Duke-Durham patient cohort. We identified a cohort of over 12,000 patients with Type 2 Diabetes Mellitus (T2DM) based on diagnosis codes and laboratory tests out of our patient population of over 240,000. Examining the common hidden units uniting the PFA modules, we identify patient features that represent medical concepts. Experiments indicate that our learned features are better able to predict mortality and morbidity than clinical features identified previously in a large-scale clinical trial.« less

Palliative care team visits. Qualitative study through participant observation.

PubMed

Alfaya Góngora, Maria Del Mar; Bueno Pernias, Maria José; Hueso Montoro, César; Guardia Mancilla, Plácido; Montoya Juárez, Rafael; García Caro, Maria Paz

2016-03-30

To describe the clinical encounters that occur when a palliative care team provides patient care and the features that influence these encounters and indicate whether they are favorable or unfavorable depending on the expectations and feelings of the various participants. A qualitative case study conducted via participant observation. A total of 12 observations of the meetings of palliative care teams with patients and families in different settings (home, hospital and consultation room) were performed. The visits were follow-up or first visits, either scheduled or on demand. Content analysis of the observation was performed. The analysis showed the normal follow-up activity of the palliative care unit that was focused on controlling symptoms, sharing information and providing advice on therapeutic regimens and care. The environment appeared to condition the patients' expressions and the type of patient relationship. Favorable clinical encounter conditions included kindness and gratitude. Unfavorable conditions were deterioration caused by approaching death, unrealistic family objectives and limited resources. Home visits from basic palliative care teams play an important role in patient and family well-being. The visits seem to focus on controlling symptoms and are conditioned by available resources.

Extensive Focal Epithelial Hyperplasia: A Case Report.

PubMed

Mansouri, Zahra; Bakhtiari, Sedigheh; Noormohamadi, Robab

2015-01-01

Focal epithelial hyperplasia (FEH) or Heck's disease is a rare viral infection of the oral mucosa caused by human papilloma virus especially subtypes 13 or 32. The frequency of this disease varies widely from one geographic region and ethnic groups to another. This paper reports an Iranian case of extensive focal epithelial hyperplasia. A 35-year-old man with FEH is described, in whom the lesions had persisted for more than 25 years. The lesion was diagnosed according to both clinical and histopathological features. Dental practitioner should be aware of these types of lesions and histopathological examination together and a careful clinical observation should be carried out for a definitive diagnosis.

Bordetella pertussis in children hospitalized with a respiratory infection: clinical characteristics and pathogen detection in household contacts.

PubMed

Del Valle-Mendoza, Juana; Silva-Caso, Wilmer; Aguilar-Luis, Miguel Angel; Del Valle-Vargas, Cristina; Cieza-Mora, Erico; Martins-Luna, Johanna; Aquino-Ortega, Ronald; Silva-Vásquez, Andrea; Bazán-Mayra, Jorge; Weilg, Pablo

2018-05-18

Describe the prevalence of Bordetella pertussis via PCR in children under 5 years old hospitalized as probable cases of pertussis and report the most common clinical features among them. A positive PCR result for B. pertussis was observed in 20.5% of our samples (18/88), one-third of them were from infants between 2 and 3 months old. The most common symptoms were paroxysms of coughing (88.9%), difficulty breathing (72.2%), cyanosis (77.8%) and fever (50%). The mother was the most common symptomatic carrier (27.8%), followed by uncles/aunts (22.2%) among children with pertussis.

The association of pituitary tumors and headache.

PubMed

Levy, Miles J

2011-04-01

Pituitary tumors may give rise to headache via numerous mechanisms. The traditional explanation for headache is dural stretch and cavernous sinus invasion, although this is not borne out by clinical studies. Certain functional pituitary tumors are associated with headache, notably growth hormone and prolactin-secreting tumors. The observation that somatostatin analogues can have a dramatic analgesic effect in acromegaly suggests that biochemical properties of the tumor may be important. The genetic predisposition of the patient to primary headache also determines whether headache occurs with pituitary tumors. This article attempts to outline the clinical features, management strategies, and key academic questions regarding the subject of pituitary tumors and headache.

Two cases of traumatic head injury mimicking acute encephalopathy with biphasic seizures and late reduced diffusion.

PubMed

Nishiyama, Masahiro; Fujita, Kyoko; Maruyama, Azusa; Nagase, Hiroaki

2014-11-01

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) presents a distinct clinical course of biphasic seizures and impaired consciousness. These symptoms are followed by reduced diffusion in the subcortical white matter on magnetic resonance imaging that is typically observed between 3 and 9 days after illness onset. Here, we report two cases of traumatic head injury with clinical and radiological features similar to those for AESD. The similarities between our cases and AESD may be useful in understanding the pathogenesis of AESD. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Dermoscopic Clues for Diagnosing Melanomas That Resemble Seborrheic Keratosis

PubMed Central

Segura, Sonia; Aguilera, Paula; Scalvenzi, Massimiliano; Longo, Caterina; Barreiro, Alicia; Broganelli, Paolo; Cavicchini, Stefano; Llambrich, Alex; Zaballos, Pedro; Thomas, Luc; Malvehy, Josep; Puig, Susana; Zalaudek, Iris

2017-01-01

Importance Melanomas that clinically mimic seborrheic keratosis (SK) can delay diagnosis and adequate treatment. However, little is known about the value of dermoscopy in recognizing these difficult-to-diagnose melanomas. Objective To describe the dermoscopic features of SK-like melanomas to understand their clinical morphology. Design, Setting, and Participants This observational retrospective study used 134 clinical and dermoscopic images of histopathologically proven melanomas in 134 patients treated in 9 skin cancer centers in Spain, France, Italy, and Austria. Without knowledge that the definite diagnosis for all the lesions was melanoma, 2 dermoscopy-trained observers evaluated the clinical descriptions and 48 dermoscopic features (including all melanocytic and nonmelanocytic criteria) of all 134 images and classified each dermoscopically as SK or not SK. The total dermoscopy score and the 7-point checklist score were assessed. Images of the lesions and patient data were collected from July 15, 2013, through July 31, 2014. Main Outcomes and Measures Frequencies of specific morphologic patterns of (clinically and dermoscopically) SK-like melanomas, patient demographics, and interobserver agreement of criteria were evaluated. Results Of the 134 cases collected from 72 men and 61 women, all of whom were white and who had a mean (SD) age of 55.6 (17.5) years, 110 (82.1%) revealed dermoscopic features suggestive of melanoma, including pigment network (74 [55.2%]), blue-white veil (72 [53.7%]), globules and dots (68 [50.7%]), pseudopods or streaks (47 [35.1%]), and blue-black sign (43 [32.3%]). The remaining 24 cases (17.9%) were considered likely SKs, even by dermoscopy. Overall, lesions showed a scaly and hyperkeratotic surface (45 [33.6%]), yellowish keratin (42 [31.3%]), comedo-like openings (41 [30.5%]), and milia-like cysts (30 [22.4%]). The entire sample achieved a mean (SD) total dermoscopy score of 4.7 (1.6) and a 7-point checklist score of 4.4 (2.3), while dermoscopically SK-like melanomas achieved a total dermoscopy score of only 4.2 (1.3) and a 7-point checklist score of 2.0 (1.9), both in the range of benignity. The most helpful criteria in correctly diagnosing SK-like melanomas were the presence of blue-white veil, pseudopods or streaks, and pigment network. Multivariate analysis found only the blue-black sign to be significantly associated with a correct diagnosis, while hyperkeratosis and fissures and ridges were independent risk markers of dermoscopically SK-like melanomas. Conclusions and Relevance Seborrheic keratosis–like melanomas can be dermoscopically challenging, but the presence of the blue-black sign, pigment network, pseudopods or streaks, and/or blue-white veil, despite the presence of other SK features, allows the correct diagnosis of most of the difficult melanoma cases. PMID:28355453

Cognitive and noncognitive neurological features of young-onset dementia.

PubMed

Kelley, Brendan J; Boeve, Bradley F; Josephs, Keith A

2009-01-01

The rarity of young-onset dementia (YOD), the broad differential diagnosis and unusual clinical presentations present unique challenges to correctly recognize the condition and establish an accurate diagnosis. Limited data exist regarding clinical features associated with dementia prior to the age of 45. We retrospectively assessed cognitive and noncognitive neurological characteristics of 235 patients who presented for evaluation of YOD to investigate the clinical characteristics of YOD compared to later-onset dementias and to identify clinical features associated with specific etiologies that may aid in the evaluation of YOD. Multiple cognitive domains were affected in most patients, and no significant differences in affected domains existed between groups. Early psychiatric and behavioral features occurred at very high frequencies. Nearly 80% of this YOD cohort had additional noncognitive symptoms or signs as a feature of their disease. Chorea was strongly associated with Huntington disease. Parkinsonism was not seen in patients having an autoimmune/inflammatory etiology. The rarity of YOD and the high frequency of early psychiatric features led to frequent misdiagnosis early in the clinical course. The high frequency of noncognitive symptoms and signs may aid clinicians in distinguishing patients requiring a more extensive evaluation for YOD.

The presence, predictive utility, and clinical significance of body dysmorphic symptoms in women with eating disorders

PubMed Central

2013-01-01

Background Both eating disorders (EDs) and body dysmorphic disorder (BDD) are disorders of body image. This study aimed to assess the presence, predictive utility, and impact of clinical features commonly associated with BDD in women with EDs. Methods Participants recruited from two non-clinical cohorts of women, symptomatic and asymptomatic of EDs, completed a survey on ED (EDE-Q) and BDD (BDDE-SR) psychopathology, psychological distress (K-10), and quality of life (SF-12). Results A strong correlation was observed between the total BDDE-SR and the global EDE-Q scores (r = 0.79, p < 0.001). Multivariate analyses demonstrated that participants with probable EDs (n = 61) and BDD (n = 23) scored higher on 28 of the 30 BDDE-SR items compared to healthy controls (n = 173; all p < 0.05), indicating greater severity of BDD symptoms. BDD participants also scored higher than ED participants on 15 of the 30 BDDE-SR items (all p < 0.05). The remaining 15 items that ED and BDD participants scored similarly on (all p > 0.05) measured appearance checking, reassurance-seeking, camouflaging, comparison-making, and social avoidance. In addition to these behaviors, inspection of sensitivity (Se) and specificity (Sp) revealed that BDDE-SR items measuring preoccupation and dissatisfaction with appearance were most predictive of ED cases (Se and Sp > 0.60). Higher total BDDE-SR scores were associated with greater distress on the K-10 and poorer quality of life on the SF-12 (all p < 0.01). Conclusions Clinical features central to the model of BDD are common in, predictive of, and associated with impairment in women with EDs. Practice implications are that these features be included in the assessment and treatment of EDs. PMID:24999401

Hymenoptera venom allergy in outdoor workers: Occupational exposure, clinical features and effects of allergen immunotherapy.

PubMed

Toletone, Alessandra; Voltolini, Susanna; Passalacqua, Giovanni; Dini, Guglielmo; Bignardi, Donatella; Minale, Paola; Massa, Emanuela; Signori, Alessio; Troise, Costantino; Durando, Paolo

2017-02-01

To describe (i) the clinical characteristics of workers, exposed to hymenoptera stings, with an ascertained diagnosis of Hymenoptera Venom Allergy (HVA), (ii) the specific role of occupational exposure, (iii) the effect of Venom Immunotherapy (VIT) in reducing the severity of allergic episodes in workers exposed to repeated stings of hymenoptera, and (iv) the management of the occupational consequences caused by allergic reactions due to hymenoptera stings. Between 2000 and 2013 an observational study, including patients referred to the regional reference hospital of Liguria, Italy, with an ascertained diagnosis of HVA and treated with VIT, was performed. A structured questionnaire was administered to all patients to investigate the occupational features of allergic reactions. These were graded according to standard systems in patients at the first episode, and after re-stings, during VIT. One-hundred and 8four out of the 202 patients referred had a complete data set. In 32 (17.4%) patients, the allergic reaction occurred during work activities performed outdoor. Of these, 31.2% previously stung by hymenoptera at work, and receiving VIT, were re-stung during occupational activity. The grades of reaction developed under VIT treatment resulted clinically less severe than of those occurred at the first sting (p-value = 0.031). Our findings confirmed the clinical relevance of HVA, and described its occupational features in outdoor workers with sensitization, stressing the importance of an early identification and proper management of the professional categories recognized at high risk of hymenoptera stings. The Occupational Physician should be supported by other specialists to recommend appropriate diagnostic procedures and the prescription of VIT, which resulted an effective treatment for the prevention of episodes of severe reactions in workers with a proven HVA.

FFDM image quality assessment using computerized image texture analysis

NASA Astrophysics Data System (ADS)

Berger, Rachelle; Carton, Ann-Katherine; Maidment, Andrew D. A.; Kontos, Despina

2010-04-01

Quantitative measures of image quality (IQ) are routinely obtained during the evaluation of imaging systems. These measures, however, do not necessarily correlate with the IQ of the actual clinical images, which can also be affected by factors such as patient positioning. No quantitative method currently exists to evaluate clinical IQ. Therefore, we investigated the potential of using computerized image texture analysis to quantitatively assess IQ. Our hypothesis is that image texture features can be used to assess IQ as a measure of the image signal-to-noise ratio (SNR). To test feasibility, the "Rachel" anthropomorphic breast phantom (Model 169, Gammex RMI) was imaged with a Senographe 2000D FFDM system (GE Healthcare) using 220 unique exposure settings (target/filter, kVs, and mAs combinations). The mAs were varied from 10%-300% of that required for an average glandular dose (AGD) of 1.8 mGy. A 2.5cm2 retroareolar region of interest (ROI) was segmented from each image. The SNR was computed from the ROIs segmented from images linear with dose (i.e., raw images) after flat-field and off-set correction. Image texture features of skewness, coarseness, contrast, energy, homogeneity, and fractal dimension were computed from the Premium ViewTM postprocessed image ROIs. Multiple linear regression demonstrated a strong association between the computed image texture features and SNR (R2=0.92, p<=0.001). When including kV, target and filter as additional predictor variables, a stronger association with SNR was observed (R2=0.95, p<=0.001). The strong associations indicate that computerized image texture analysis can be used to measure image SNR and potentially aid in automating IQ assessment as a component of the clinical workflow. Further work is underway to validate our findings in larger clinical datasets.

No significant difference between chiari malformation type 1.5 and type I.

PubMed

Liu, Wei; Wu, Hongxing; Aikebaier, Yalikun; Wulabieke, Maoliti; Paerhati, Rexiti; Yang, Xiaopeng

2017-06-01

Chiari malformation Type 1.5 (CM 1.5) was defined as the association of Chiari malformation Type I (CM I) and brainstem herniation. The objective was to demonstrate the difference of clinical features and surgical outcomes between CM 1.5 and CM I. All CM 1.5 and CM I adult patients who underwent posterior fossa decompression with duraplasty at our institution between 2006 and 2010 were retrospectively reviewed. Clinical characteristics, imaging features, and long-term outcomes were compared between CM 1.5 and CM I patients. A total of 142 adult patients were enrolled, including 27 CM 1.5 and 115 CM I patients. The average follow-up period was 102 months. Age at diagnosis was significantly younger in CM 1.5 group than CM I group (p=0.039). And the degree of tonsillar herniation was significantly more severe in CM 1.5 group than CM I group (p<0.001). There was no significant difference in other clinical and imaging characteristics. Moreover, improvement of symptoms was observed in 21 CM 1.5 patients (77.8%) and 94 CM I patients (81.7%), and no significant difference was detected (p=0.637). There was no significant difference in the resolution of syringomyelia between CM 1.5 (72.7%) and CM I (76.5%) patients, either (p=0. 710). Although CM 1.5 patients presented with brainstem herniation and more severe tonsillar herniation, other clinical and imaging features and surgical outcomes were similar with CM I patients. We think CM 1.5 is just a subtype of CM I, rather than a unique type of Chiari malformations. Copyright © 2017 Elsevier B.V. All rights reserved.

Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome).

PubMed

Roubertie, A; Semprino, M; Chaze, A M; Rivier, F; Humbertclaude, V; Cheminal, R; Lefort, G; Echenne, B

2001-12-01

Chromosome 22q11 deletion (CATCH 22 syndrome or velocardiofacial syndrome) is one of the most frequent chromosomal syndromes. Neurological features other than cognitive disorders are probably the least-described part of the expanding phenotype of the 22q11 deletion. We report the neurological features of three unrelated children with a de novo deletion: one patient with an autistic disorder, a second patient with hypocalcaemic neonatal seizures and unusual persistent epileptic focus at electroencephalographic follow-up, and a third patient with atypical absence epilepsy. These observations enlarge the clinical and neurological spectrum of the 22q11 deletion. Awareness of such cases is necessary, and a diagnosis of the 22q11 deletion should be suspected in children with common neurological features associated with severe or mild dysmorphism. Diagnosis of the 22q11 deletion should be confirmed by fluorescence in situ hybridization analysis associated with standard chromosomal analysis.

Inverted follicular keratosis: dermoscopic and reflectance confocal microscopic features.

PubMed

Armengot-Carbo, M; Abrego, A; Gonzalez, T; Alarcon, I; Alos, L; Carrera, C; Malvehy, J; Puig, S

2013-01-01

Inverted follicular keratosis (IFK) is a rare benign tumor which usually appears as a firm papule on the face. The diagnosis is generally made by histopathology because the clinical appearance is difficult to differentiate from other lesions. Dermoscopic features of IFK have not been established to date. Herein we describe the dermoscopic findings of 4 cases of IFK. Radial peripheral hairpin vessels surrounded by a whitish halo arranged around a central white-yellowish amorphous area were observed in 3 cases, and glomerular vessels were present in the central area of one of them. The fourth case also presented a central white amorphous area but showed arborizing vessels. Reflectance confocal microscopy (available in 1 case) revealed a broadened honeycomb pattern, epidermal projections and hairpin and glomerular vessels. To our knowledge this is the first case series describing the dermoscopic features of inverted follicular keratosis and the first confocal microscopy description of this entity.

[Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case].

PubMed

Mora-Bautista, Víctor M; Mendoza-Rojas, Víctor; Contreras-García, Gustavo A

2017-06-01

Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel. Central hypothyroidism, growth hormone deficiency and low luteinizing hormone-follicle-stimulating hormone levels were observed and multiple pituitary hormone deficiencies diagnosis was made. Basal cortisol, adrenocorticotropic hormone and prolactin levels were normal. He received thyroid hormonal substitution. Multiple pituitary hormone deficiencies are an unusual feature of De Lange syndrome. We suggest evaluating all different endocrine axes in these patients. Sociedad Argentina de Pediatría.

Analysis of causality from observational studies and its application in clinical research in Intensive Care Medicine.

PubMed

Coscia Requena, C; Muriel, A; Peñuelas, O

2018-02-28

Random allocation of treatment or intervention is the key feature of clinical trials and divides patients into treatment groups that are approximately balanced for baseline, and therefore comparable covariates except for the variable treatment of the study. However, in observational studies, where treatment allocation is not random, patients in the treatment and control groups often differ in covariates that are related to intervention variables. These imbalances in covariates can lead to biased estimates of the treatment effect. However, randomized clinical trials are sometimes not feasible for ethical, logistical, economic or other reasons. To resolve these situations, interest in the field of clinical research has grown in designing studies that are most similar to randomized experiments using observational (i.e. non-random) data. Observational studies using propensity score analysis methods have been increasing in the scientific papers of Intensive Care. Propensity score analyses attempt to control for confounding in non-experimental studies by adjusting for the likelihood that a given patient is exposed. However, studies with propensity indexes may be confusing, and intensivists are not familiar with this methodology and may not fully understand the importance of this technique. The objectives of this review are: to describe the fundamentals of propensity index methods; to present the techniques to adequately evaluate propensity index models; to discuss the advantages and disadvantages of these techniques. Copyright © 2018 Elsevier España, S.L.U. y SEMICYUC. All rights reserved.

Interobserver Agreement on Endoscopic Classification of Oesophageal Varices in Children.

PubMed

D'Antiga, Lorenzo; Betalli, Pietro; De Angelis, Paola; Davenport, Mark; Di Giorgio, Angelo; McKiernan, Patrick J; McLin, Valerie; Ravelli, Paolo; Durmaz, Ozlem; Talbotec, Cecile; Sturm, Ekkehard; Woynarowski, Marek; Burroughs, Andrew K

2015-08-01

Data regarding agreement on endoscopic features of oesophageal varices in children with portal hypertension (PH) are scant. The aim of this study was to evaluate endoscopic visualisation and classification of oesophageal varices in children by several European clinicians, to build a rational basis for future multicentre trials. Endoscopic pictures of the distal oesophagus of 100 children with a clinical diagnosis of PH were distributed to 10 endoscopists. Observers were requested to classify variceal size according to a 3-degree scale (small, medium, and large, class A), a 2-degree scale (small and large, class B), and to recognise red wales (presence or absence, class Red). Overall agreement was considered fair if Fleiss and Cohen κ test was ≥0.30, good if ≥0.40, excellent if ≥0.60, and perfect if ≥0.80. Agreement between observers was fair with class A (κ = 0.34) and class B (κ = 0.38), and good with class Red (κ = 0.49). The agreement was good on presence versus absence of varices (class A = 0.53, class B = 0.48). The agreement among the observers was good in class A when endoscopic features of severe PH (medium and large sizes, red marks) were grouped and compared with mild features (absent and small varices) (κ = 0.58). Experts working in different centres show a fairly good agreement on endoscopic features of PH in children, although a better training of paediatric endoscopists may improve the agreement in grading severity of varices in this setting.

Understanding egorrhea from cultural-clinical psychology

PubMed Central

Sasaki, Jun; Wada, Kaori; Tanno, Yoshihiko

2013-01-01

Based on his observations in Japanese clinical settings, Fujinawa (1972) conceptualized egorrhea syndrome, which includes symptoms such as erythrophobia, fear of eye-to-eye confrontation, olfactory reference syndrome, delusions of soliloquy, delusions of sleep talking, and thought broadcasting. The key feature of this syndrome is self-leakage, a perceived sense that one's personal internal information, such as feelings and thoughts, are leaking out. To reach a more comprehensive understanding of egorrhea, this paper aims to present general overview and reconsider the phenomenon of self-leakage using cultural-clinical psychology as a framework. First, the symptoms of egorrhea are reviewed in relation to other related psychopathologies such as social anxiety disorder (SAD) and taijin kyofusho (TKS), as well as schizophrenia. Second, a series of empirical studies conducted using Japanese non-clinical samples are summarized. The results of these studies form the basis for subsequent discussions, which incorporates the cultural-clinical psychology perspective proposed by Ryder et al. (2011). This paper ends with a general discussion regarding implications for research and clinical practice. PMID:24348445

27 The DiPEP (Diagnosis of PE in Pregnancy) study: can clinical assessment, d-dimer or chest x-ray be used to select pregnant or postpartum women with suspected PE for diagnostic imaging?

PubMed

Goodacre, Steve; Horspool, Kimberley; Nelson-Piercy, Catherine; Knight, Marian; Shephard, Neil; Lecky, Fiona; Thomas, Steven; Hunt, Beverley; Fuller, Gordon

2017-12-01

To determine whether clinical features (in the form of a clinical decision rule) or d-dimer can be used to select pregnant or postpartum women with suspected PE for diagnostic imaging. Observational cohort study augmented with additional cases. Consultant-led maternity units participating in the UK Obstetric Surveillance System (UKOSS) and emergency departments and maternity units at eleven prospectively recruiting sites. 198 pregnant or postpartum women with diagnosed PE identified through UKOSS and 324 pregnant or postpartum women with suspected PE from prospectively recruiting sites. Data were collected relating to clinical features, elements of clinical decision rules, d-dimer measurements, diagnostic imaging, treatment for PE and adverse outcomes. Women were classified as having or not having PE on the basis of diagnostic imaging, treatment and subsequent adverse outcomes. Primary analysis was limited to women with conclusive diagnostic imaging. Secondary analyses included women with clinically diagnosed or ruled out PE. The primary analysis included 181 women with PE and 259 without. Most clinical features showed no association with PE. The only exceptions were number of previous pregnancies over 24 weeks (p=0.017), no varicose veins (p=0.045), no recent long haul travel (p=0.006), recent surgery including caesarean section (p=0.001), increased temperature (p=0.003), low oxygen saturation (p<0.001), PE-related chest x-ray abnormality (p=0.01) and other chest x-ray abnormality (p=0.001).Clinical decision rules had areas under the receiver-operator characteristic curve ranging from 0.577 to 0.732. No clinically useful threshold for decision-making was identified for any rule. The sensitivities and specificities of d-dimer were 88.4% and 8.8% using the standard laboratory threshold and 69.8% and 32.8% using a pregnancy-specific threshold. Clinical decision rules, d-dimer and chest x-ray should not be used to select pregnant or postpartum women with suspected PE for diagnostic imaging. © 2017, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Clinical features of autoimmune hepatitis with acute presentation: a Japanese nationwide survey.

PubMed

Joshita, Satoru; Yoshizawa, Kaname; Umemura, Takeji; Ohira, Hiromasa; Takahashi, Atsushi; Harada, Kenichi; Hiep, Nguyen Canh; Tsuneyama, Koichi; Kage, Masayoshi; Nakano, Masayuki; Kang, Jong-Hon; Koike, Kazuhiko; Zeniya, Mikio; Yasunaka, Tetsuya; Takaki, Akinobu; Torimura, Takuji; Abe, Masanori; Yokosuka, Osamu; Tanaka, Atsushi; Takikawa, Hajime

2018-02-23

Autoimmune hepatitis (AIH) is characterized by progressive inflammation and necrosis of hepatocytes and eventually leads to a variety of phenotypes, including acute liver dysfunction, chronic progressive liver disease, and fulminant hepatic failure. Although the precise mechanisms of AIH are unknown, environmental factors may trigger disease onset in genetically predisposed individuals. Patients with the recently established entity of AIH with acute presentation often display atypical clinical features that mimic those of acute hepatitis forms even though AIH is categorized as a chronic liver disease. The aim of this study was to identify the precise clinical features of AIH with acute presentation. Eighty-six AIH patients with acute presentation were retrospectively enrolled from facilities across Japan and analyzed for clinical features, histopathological findings, and disease outcomes. Seventy-five patients were female and 11 were male. Patient age ranged from adolescent to over 80 years old, with a median age of 55 years. Median alanine transaminase (ALT) was 776 U/L and median immunoglobulin G (IgG) was 1671 mg/dL. There were no significant differences between genders in terms of ALT (P = 0.27) or IgG (P = 0.51). The number of patients without and with histopathological fibrosis was 29 and 57, respectively. The patients with fibrosis were significantly older than those without (P = 0.015), but no other differences in clinical or histopathological findings were observed. Moreover, antinuclear antibody (ANA)-positive (defined as × 40, N = 63) and -negative (N = 23) patients showed no significant differences in clinical or histopathological findings or disease outcomes. Twenty-five patients experienced disease relapse and two patients died during the study period. ALP ≥ 500 U/L [odds ratio (OR) 3.20; 95% confidence interval (CI) 1.12-9.10; P < 0.030] and GGT ≥ 200 U/L (OR 2.98; 95% CI 1.01-8.77; P = 0.047) were identified as independent risk factors of disease relapse. AIH with acute presentation is a newly recognized disease entity for which diagnostic hallmarks, such as ALT, fibrosis, and ANA, are needed. Further investigation is also required on the mechanisms of this disorder. Clinicians should be mindful of disease relapse during patient care.

[Psychopathology and clinical features of oneiroid-catatonic conditions during endogenous diseases].

PubMed

Alekseeva, A G

2011-01-01

Psychopathology and clinical features of oneiroid-catatonic conditions during endogenous diseases remain a topical problem in modem psychiatry. The author describes psychopathologcal features of oneiroid depending on the form of the affect and presents new data on its relation to peculiarities of the development of attacks.

Sarcoidosis diagnostic score (SDS): a systematic evaluation to enhance the diagnosis of sarcoidosis.

PubMed

Bickett, Alexandra N; Lower, Elyse E; Baughman, Robert P

2018-05-17

The diagnosis of sarcoidosis is made by the combination of clinical features and biopsy results. The clinical features of sarcoidosis can be quite variable. We developed a Sarcoidosis Diagnostic Score (SDS) to summarize the clinical features of possible sarcoidosis patients. Biopsy confirmed sarcoidosis patients seen during a seven-month time period at the University of Cincinnati Sarcoidosis clinic were prospectively identified. Non-sarcoidosis patients seen at the same clinic were used as controls. Using a modified WASOG organ assessment instrument, we scored all patients for presence of biopsy, one or more highly probable symptom, and one or more at least probable symptom for each area. Two sarcoidosis scores were generated: SDS biopsy (with biopsy) and SDS clinical (without biopsy). The 980 evaluable patients were divided into two cohorts: an initial 600 patients (450 biopsy confirmed sarcoidosis, 150 controls) to establish cut-off values for SDS biopsy and SDS clinical and a validation cohort of 380 patients (103 biopsy confirmed sarcoidosis patients and 277 controls). The best cutoff value for SDS biopsy was > 6 (sensitivity =99.3%; specificity=100%). For the total the 980 patients, an SDS clinical > 3 had a sensitivity of 94.2%, specificity of 88.8%, and a likelihood ratio of 7.9. An SDS clinical score > 4 had a lower sensitivity of (76.9%) but higher specificity (98.6%). For sarcoidosis, the presence of specific clinical features, especially multi-organ involvement, can enhance the diagnostic certainty. The SDS scoring system quantitated the clinical features consistent with sarcoidosis. Copyright © 2018. Published by Elsevier Inc.

Dermatoscopic features of cutaneous non-facial non-acral lentiginous growth pattern melanomas

PubMed Central

Keir, Jeff

2014-01-01

Background: The dermatoscopic features of facial lentigo maligna (LM), facial lentigo maligna melanoma (LMM) and acral lentiginous melanoma (ALM) have been well described. This is the first description of the dermatoscopic appearance of a clinical series of cutaneous non-facial non-acral lentiginous growth pattern melanomas. Objective: To describe the dermatoscopic features of a series of cutaneous non-facial non-acral lentiginous growth pattern melanomas in an Australian skin cancer practice. Method: Single observer retrospective analysis of dermatoscopic images of a one-year series of cutaneous non-facial, non-acral melanomas reported as having a lentiginous growth pattern detected in an open access primary care skin cancer clinic in Australia. Lesions were scored for presence of classical criteria for facial LM; modified pattern analysis (“Chaos and Clues”) criteria; and the presence of two novel criteria: a lentigo-like pigment pattern lacking a lentigo-like border, and large polygons. Results: 20 melanomas occurring in 14 female and 6 male patients were included. Average patient age was 64 years (range: 44–83). Lesion distribution was: trunk 35%; upper limb 40%; and lower limb 25%. The incidences of criteria identified were: asymmetry of color or pattern (100%); lentigo-like pigment pattern lacking a lentigo-like border (90%); asymmetrically pigmented follicular openings (APFO’s) (70%); grey blue structures (70%); large polygons (45%); eccentric structureless area (15%); bright white lines (5%). 20% of the lesions had only the novel criteria and/or APFO’s. Limitations: Single observer, single center retrospective study. Conclusions: Cutaneous non-facial non-acral melanomas with a lentiginous growth pattern may have none or very few traditional criteria for the diagnosis of melanoma. Criteria that are logically expected in lesions with a lentiginous growth pattern (lentigo-like pigment pattern lacking a lentigo-like border, APFO’s) and the novel criterion of large polygons may be useful in increasing sensitivity and specificity of diagnosis of these lesions. Further study is required to establish the significance of these observations. PMID:24520520

Dermatoscopic features of cutaneous non-facial non-acral lentiginous growth pattern melanomas.

PubMed

Keir, Jeff

2014-01-01

The dermatoscopic features of facial lentigo maligna (LM), facial lentigo maligna melanoma (LMM) and acral lentiginous melanoma (ALM) have been well described. This is the first description of the dermatoscopic appearance of a clinical series of cutaneous non-facial non-acral lentiginous growth pattern melanomas. To describe the dermatoscopic features of a series of cutaneous non-facial non-acral lentiginous growth pattern melanomas in an Australian skin cancer practice. Single observer retrospective analysis of dermatoscopic images of a one-year series of cutaneous non-facial, non-acral melanomas reported as having a lentiginous growth pattern detected in an open access primary care skin cancer clinic in Australia. Lesions were scored for presence of classical criteria for facial LM; modified pattern analysis ("Chaos and Clues") criteria; and the presence of two novel criteria: a lentigo-like pigment pattern lacking a lentigo-like border, and large polygons. 20 melanomas occurring in 14 female and 6 male patients were included. Average patient age was 64 years (range: 44-83). Lesion distribution was: trunk 35%; upper limb 40%; and lower limb 25%. The incidences of criteria identified were: asymmetry of color or pattern (100%); lentigo-like pigment pattern lacking a lentigo-like border (90%); asymmetrically pigmented follicular openings (APFO's) (70%); grey blue structures (70%); large polygons (45%); eccentric structureless area (15%); bright white lines (5%). 20% of the lesions had only the novel criteria and/or APFO's. Single observer, single center retrospective study. Cutaneous non-facial non-acral melanomas with a lentiginous growth pattern may have none or very few traditional criteria for the diagnosis of melanoma. Criteria that are logically expected in lesions with a lentiginous growth pattern (lentigo-like pigment pattern lacking a lentigo-like border, APFO's) and the novel criterion of large polygons may be useful in increasing sensitivity and specificity of diagnosis of these lesions. Further study is required to establish the significance of these observations.

Ultra-Widefield Steering-Based SD-OCT Imaging of the Retinal Periphery

PubMed Central

Choudhry, Netan; Golding, John; Manry, Matthew W.; Rao, Rajesh C.

2016-01-01

Objective To describe the spectral-domain optical coherence tomography (SD-OCT) features of peripheral retinal findings using an ultra-widefield (UWF) steering technique to image the retinal periphery. Design Observational study. Participants 68 patients (68 eyes) with 19 peripheral retinal features. Main Outcome Measures SD-OCT-based structural features. Methods Nineteen peripheral retinal features including: vortex vein, congenital hypertrophy of the retinal pigment epithelium (CHRPE), pars plana, ora serrata pearl, typical cystoid degeneration (TCD), cystic retinal tuft, meridional fold, lattice and cobblestone degeneration, retinal hole, retinal tear, rhegmatogenous retinal detachment (RRD), typical degenerative senile retinoschisis, peripheral laser coagulation scars, ora tooth, cryopexy scars (retinal tear and treated retinoblastoma scar), bone spicules, white without pressure, and peripheral drusen were identified by peripheral clinical examination. Near infrared (NIR) scanning laser ophthalmoscopy (SLO) images and SD-OCT of these entities were registered to UWF color photographs. Results SD-OCT resolved structural features of all peripheral findings. Dilated hyporeflective tubular structures within the choroid were observed in the vortex vein. Loss of retinal lamination, neural retinal attenuation, RPE loss or hypertrophy were seen in several entities including CHRPE, ora serrata pearl, TCD, cystic retinal tuft, meridional fold, lattice and cobblestone degenerations. Hyporeflective intraretinal spaces, indicating cystoid or schitic fluid, were seen in ora serrata pearl, ora tooth, TCD, cystic retinal tuft, meridional fold, retinal hole, and typical degenerative senile retinoschisis. The vitreoretinal interface, which often consisted of lamellae-like structures of the condensed cortical vitreous near or adherent to the neural retina, appeared clearly in most peripheral findings, confirming its association with many low-risk and vision-threatening pathologies such as lattice degeneration, meridional folds, retinal breaks, and RRDs. Conclusions UWF steering technique-based SD-OCT imaging of the retinal periphery is feasible with current commercially available devices, and provides detailed anatomical information of the peripheral retina, including benign and pathological entities, not previously imaged. This imaging technique may deepen our structural understanding of these entities, their potentially associated macular and systemic pathologies, and may influence decision-making in clinical practice, particularly in areas with teleretinal capabilities but poor access to retinal specialists. PMID:26992837

Does the choice of display system influence perception and visibility of clinically relevant features in digital pathology images?

NASA Astrophysics Data System (ADS)

Kimpe, Tom; Rostang, Johan; Avanaki, Ali; Espig, Kathryn; Xthona, Albert; Cocuranu, Ioan; Parwani, Anil V.; Pantanowitz, Liron

2014-03-01

Digital pathology systems typically consist of a slide scanner, processing software, visualization software, and finally a workstation with display for visualization of the digital slide images. This paper studies whether digital pathology images can look different when presenting them on different display systems, and whether these visual differences can result in different perceived contrast of clinically relevant features. By analyzing a set of four digital pathology images of different subspecialties on three different display systems, it was concluded that pathology images look different when visualized on different display systems. The importance of these visual differences is elucidated when they are located in areas of the digital slide that contain clinically relevant features. Based on a calculation of dE2000 differences between background and clinically relevant features, it was clear that perceived contrast of clinically relevant features is influenced by the choice of display system. Furthermore, it seems that the specific calibration target chosen for the display system has an important effect on the perceived contrast of clinically relevant features. Preliminary results suggest that calibrating to DICOM GSDF calibration performed slightly worse than sRGB, while a new experimental calibration target CSDF performed better than both DICOM GSDF and sRGB. This result is promising as it suggests that further research work could lead to better definition of an optimized calibration target for digital pathology images resulting in a positive effect on clinical performance.

Combining semiquantitative measures of fibrosis and qualitative features of parenchymal remodelling to identify fibrosis regression in hepatitis C: a multiple biopsy study.

PubMed

Pattullo, Venessa; Thein, Hla-Hla; Heathcote, Elizabeth Jenny; Guindi, Maha

2012-09-01

A fall in hepatic fibrosis stage may be observed in patients with chronic hepatitis C (CHC); however, parenchymal architectural changes may also signify hepatic remodelling associated with fibrosis regression. The aim of this study was to utilize semiquantitative and qualitative methods to report the prevalence and factors associated with fibrosis regression in CHC. Paired liver biopsies were scored for fibrosis (Ishak), and for the presence of eight qualitative features of parenchymal remodelling, to derive a qualitative regression score (QR score). Combined fibrosis regression was defined as ≥2-stage fall in Ishak stage (Reg-I) or <2-stage fall in Ishak stage with a rise in QR score (Reg-Qual). Among 159 patients (biopsy interval 5.4 ± 3.1 years), Reg-I was observed in 12 (7.5%) and Reg-Qual in 26 (16.4%) patients. The combined diagnostic criteria increased the diagnosis rate for fibrosis regression (38 patients, 23.9%) compared with use of Reg-I alone (P < 0.001). Combined fibrosis regression was observed in nine patients (50%) who achieved sustained virological response (SVR), and in 29 of 141 (21%) patients despite persistent viraemia. SVR was the only clinical factor associated independently with combined fibrosis regression (odds ratio 3.05). The combination of semiquantitative measures and qualitative features aids the identification of fibrosis regression in CHC. © 2012 Blackwell Publishing Ltd.

Multi-disciplinary team meetings in stroke rehabilitation: an observation study and conceptual framework.

PubMed

Tyson, S F; Burton, L; McGovern, A

2014-12-01

To explore how multi-disciplinary team meetings operate in stroke rehabilitation. Non-participant observation of multi-disciplinary team meetings and semi-structured interviews with attending staff. Twelve meetings were observed (at least one at each site) and 18 staff (one psychologist, one social worker; four nurses; four physiotherapists four occupational therapists, two speech and language therapists, one stroke co-ordinator and one stroke ward manager) were interviewed in eight in-patient stroke rehabilitation units. Multi-disciplinary team meetings in stroke rehabilitation were complex, demanding and highly varied. A model emerged which identified the main inputs to influence conduct of the meetings were personal contributions of the members and structure and format of the meetings. These were mediated by the team climate and leadership skills of the chair. The desired outputs; clinical decisions and the attributes of apparently effective meetings were identified by the staff. A notable difference between the meetings that staff considered effective and those that were not, was their structure and format. Successful meetings tended to feature a set agenda, structured documentation; formal use of measurement tools; pre-meeting preparation and skilled chairing. These features were often absent in meetings perceived to be ineffective. The main features of operation of multi-disciplinary team meetings have been identified which will enable assessment tools and interventions to improve effectiveness to be developed. © The Author(s) 2014.

Clinical mastitis in ewes; bacteriology, epidemiology and clinical features.

PubMed

Mørk, Tormod; Waage, Steinar; Tollersrud, Tore; Kvitle, Bjørg; Sviland, Ståle

2007-09-24

Clinical mastitis is an important disease in sheep. The objective of this work was to identify causal bacteria and study certain epidemiological and clinical features of clinical mastitis in ewes kept for meat and wool production. The study included 509 ewes with clinical mastitis from 353 flocks located in 14 of the 19 counties in Norway. Clinical examination and collection of udder secretions were carried out by veterinarians. Pulsed-field gel electrophoresis (PFGE) was performed on 92 Staphylococcus aureus isolates from 64 ewes. S. aureus was recovered from 65.3% of 547 clinically affected mammary glands, coagulase-negative staphylococci from 2.9%, enterobacteria, mainly Escherichia coli, from 7.3%, Streptococcus spp. from 4.6%, Mannheimia haemolytica from 1.8% and various other bacteria from 4.9%, while no bacteria were cultured from 13.2% of the samples. Forty percent of the ewes with unilateral clinical S. aureus mastitis also had a subclinical S. aureus infection in the other mammary gland. Twenty-four of 28 (86%) pairs of S. aureus isolates obtained from clinically and subclinically affected mammary glands of the same ewe were indistinguishable by PFGE. The number of identical pairs was significantly greater than expected, based on the distribution of different S. aureus types within the flocks. One-third of the cases occurred during the first week after lambing, while a second peak was observed in the third week of lactation. Gangrene was present in 8.8% of the clinically affected glands; S. aureus was recovered from 72.9%, Clostridium perfringens from 6.3% and E. coli from 6.3% of the secretions from such glands. This study shows that S. aureus predominates as a cause of clinical ovine mastitis in Norway, also in very severe cases. Results also indicate that S. aureus is frequently spread between udder halves of infected ewes.

Role of Altered mGluR Activity in Cognitive Impairments in TSC: Implications for a Novel Method of Treatment

DTIC Science & Technology

2013-04-01

epilepsy, autism , anxiety and mood disorders. Fragile X syndrome (FXS), another form of inherited mental retardation and autism , shares many of the...therapeutic intervention for several of the deficits observed in TSC. 15. SUBJECT TERMS autism , Tuberous Sclerosis Complex, Fragile X Syndrome...clinical features being mental retardation, epilepsy, autism , anxiety and mood disorders (Prather & de Vries, 2004). Fragile X syndrome (FXS

Granulomatous lobular mastitis.

PubMed

Zhou, Fei; Yu, Li-Xiang; Ma, Zhong-Bing; Yu, Zhi-Gang

2016-03-01

Granulomatous lobular mastitis is an unusual breast benign inflammatory disorder with unknown aetiology. It is generally emerged with the clinical symptoms of breast mass, abscess, inflammation and mammary duct fistula. The diagnosis is made by histopathology with a chronic non-necrotizing granulomatous inflammation in lobules of the breast tissue as the microscopic feature. Therapy of granulomatous lobular mastitis consists of surgical, medication treatment or combination of both, but now researches suggest that observational management is an acceptable treatment.

North vs south differences in acute peptic ulcer hemorrhage in Croatia: hospitalization incidence trends, clinical features, and 30-day case fatality

PubMed Central

Ljubičić, Neven; Pavić, Tajana; Budimir, Ivan; Puljiz, Željko; Bišćanin, Alen; Bratanić, Andre; Nikolić, Marko; Hrabar, Davor; Troskot, Branko

2014-01-01

Aim To assess the seven-year trends of hospitalization incidence due to acute peptic ulcer hemorrhage (APUH) and associated risk factors, and examine the differences in these trends between two regions in Croatia. Methods The study collected sociodemographic, clinical, and endoscopic data on 2204 patients with endoscopically confirmed APUH who were admitted to the Clinical Hospital Center “Sestre Milosrdnice,” Zagreb and Clinical Hospital Center Split between January 1, 2005 and December 31, 2011. We determined hospitalization incidence rates, 30-day case fatality rate, clinical outcomes, and incidence-associated factors. Results No differences were observed in APUH hospitalization incidence rates between the regions. Age-standardized one-year cumulative APUH hospitalization incidence rate calculated using the European Standard Population was significantly higher in Zagreb than in Split region (43.2/100 000 vs 29.2/100,000). A significantly higher APUH hospitalization incidence rates were observed in the above 65 years age group. Overall 30-day case fatality rate was 4.9%. Conclusion The hospitalization incidence of APUH in two populations did not change over the observational period and it was significantly higher in the Zagreb region. The incidence of acute duodenal ulcer hemorrhage also remained unchanged, whereas the incidence of acute gastric ulcer hemorrhage increased. The results of this study allow us to monitor epidemiological indicators of APUH and compare data with other countries. PMID:25559836

[FEATURES OF CLINICAL COURSE OF INFECTIOUS MONONUCLEOSIS IN CHILDREN DEPENDENT ON ETIOLOGY].

PubMed

Kharchenko, Iu P; Zarets'ka, A V; Slobodnichenko, L M; Iurchenko, I V

2015-01-01

The article highlights the clinical features of infectious mononucleosis in children (based on the analysis of the data for children of different ages treated in Odessa clinical hospital of infectious diseases in connection with infectious mononucleosis) based on etiological factors.

Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics.

PubMed

Zuradelli, Monica; Peissel, Bernard; Manoukian, Siranoush; Zaffaroni, Daniela; Barile, Monica; Pensotti, Valeria; Cavallari, Ugo; Masci, Giovanna; Mariette, Frederique; Benski, Anne Caroline; Santoro, Armando; Radice, Paolo

2010-11-01

Double heterozygosity (DH) for BRCA1 and BRCA2 mutations is a very rare finding, particularly in non-Ashkenazi individuals, and only a few cases have been reported to date. In addition, little is known on the pathological features of the tumors that occur in DH cases and on their family history of cancer. Four carriers of pathogenic mutations in both BRCA1 and BRCA2 were identified among women who underwent genetic counseling for hereditary susceptibility to breast and ovarian carcinoma at three different Italian institutions. Clinical, pathological, and family history data were collected from medical records and during genetic counseling sessions. All identified DH cases developed breast carcinoma and three of them were also diagnosed with ovarian carcinoma. Mean ages of breast and ovarian cancer diagnosis were 42.7 and 48.6 years, respectively. The majority of breast cancers showed a BRCA1-related phenotype, being negative for hormone receptors and HER2. Two cases reported different gastrointestinal tumors among relatives. Although the individuals described in this study show more severe clinical features in comparison to previously reported BRCA1 and BRCA2 DH cases, our observations support the hypothesis of a non specific phenotype of DH cases in terms of age of disease onset. In addition, our observations indicate that in DH patients breast carcinogenesis appears to be driven mainly by the mutations in BRCA1. The possible association of DH for BRCA gene mutations with gastrointestinal tumors is in keeping with previous reports, but needs to be confirmed by further analyses.

Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency.

PubMed

Durel, Cécile-Audrey; Aouba, Achille; Bienvenu, Boris; Deshayes, Samuel; Coppéré, Brigitte; Gombert, Bruno; Acquaviva-Bourdain, Cécile; Hachulla, Eric; Lecomte, Frédéric; Touitou, Isabelle; Ninet, Jacques; Philit, Jean-Baptiste; Messer, Laurent; Brouillard, Marc; Girard-Madoux, Marie-Hélène; Moutschen, Michel; Raison-Peyron, Nadia; Hutin, Pascal; Duffau, Pierre; Trolliet, Pierre; Hatron, Pierre-Yves; Heudier, Philippe; Cevallos, Ramiro; Lequerré, Thierry; Brousse, Valentine; Lesire, Vincent; Audia, Sylvain; Maucort-Boulch, Delphine; Cuisset, Laurence; Hot, Arnaud

2016-03-01

The aim of this study was to describe the clinical and biological features of Mevalonate kinase deficiency (MKD) in patients diagnosed in adulthood. This is a French and Belgian observational retrospective study from 2000 to 2014. To constitute the cohort, we cross-check the genetic and biochemical databases. The clinical, enzymatic, and genetic data were gathered from medical records. Twenty-three patients were analyzed. The mean age at diagnosis was 40 years, with a mean age at onset of symptoms of 3 years. All symptomatic patients had fever. Febrile attacks were mostly associated with arthralgia (90.9%); lymphadenopathy, abdominal pain, and skin lesions (86.4%); pharyngitis (63.6%); cough (59.1%); diarrhea, and hepatosplenomegaly (50.0%). Seven patients had psychiatric symptoms (31.8%). One patient developed recurrent seizures. Three patients experienced renal involvement (13.6%). Two patients had angiomyolipoma (9.1%). All but one tested patients had elevated serum immunoglobulin (Ig) D level. Twenty-one patients had genetic diagnosis; most of them were compound heterozygote (76.2%). p.Val377Ile was the most prevalent mutation. Structural articular damages and systemic AA amyloidosis were the 2 most serious complications. More than 65% of patients displayed decrease in severity and frequency of attacks with increasing age, but only 35% achieved remission. MKD diagnosed in adulthood shared clinical and genetic features with classical pediatric disease. An elevated IgD concentration is a good marker for MKD in adults. Despite a decrease of severity and frequency of attacks with age, only one-third of patients achieved spontaneous remission.

User acceptance of observation and response charts with a track and trigger system: a multisite staff survey.

PubMed

Elliott, Doug; Allen, Emily; McKinley, Sharon; Perry, Lin; Duffield, Christine; Fry, Margaret; Gallagher, Robyn; Iedema, Rick; Roche, Michael

2016-08-01

To examine user acceptance with a new format of charts for recording observations and as a prompt for responding to episodes of clinical deterioration in adult medical-surgical patients. Improving recognition and response to clinical deterioration remains a challenge for acute healthcare institutions globally. Five chart templates were developed in Australia, combining human factors design principles with a track and trigger system for escalation of care. Two chart templates were previously tested in simulations, but none had been evaluated in clinical practice. Prospective multisite survey of user acceptance of the charts in practice. New observation and response charts were trialled in parallel with existing charts for 24 hours across 36 adult acute medical-surgical wards, covering 108 shifts, in five Australian states. Surveys were completed by 477 staff respondents, with open-ended comments and narrative from short informal feedback groups providing elaboration and context of user experiences. Respondents were broadly supportive of the chart format and content for monitoring patients, and as a prompt for escalating care. Some concerns were noted for chart size and style, use of ranges to graph vital signs and with specific human factors design features. Information and training issues were identified to improve usability and adherence to chart guidelines and to support improved detection and response for patients with clinical deterioration. This initial evaluation demonstrated that the charts were perceived as appropriate for documenting observations and as a prompt to detect clinical deterioration. Further evaluation after some minor modifications to the chart is recommended. Explicit training on the principles and rationale of human factors chart design, use of embedded change management strategies and addressing practical issues will improve authentic engagement, staff acceptance and adoption by all clinical users when implementing a similar observation and response chart into practice. © 2016 John Wiley & Sons Ltd.

When fear of cancer recurrence becomes a clinical issue: a qualitative analysis of features associated with clinical fear of cancer recurrence.

PubMed

Mutsaers, Brittany; Jones, Georden; Rutkowski, Nicole; Tomei, Christina; Séguin Leclair, Caroline; Petricone-Westwood, Danielle; Simard, Sébastien; Lebel, Sophie

2016-10-01

Fear of cancer recurrence (FCR) is a common experience for cancer survivors. However, it remains unclear what characteristics differentiate non-clinical from clinical levels of FCR. The goal of this study was to investigate the potential hallmarks of clinical FCR. A convenience sample of 40 participants (n = 19 female) was drawn from another study (Lebel et al. in Qual Life Res 25:311-321. doi: 10.1007/s11136-015-1088-2 , 2016). The semi-structured interview for fear of cancer recurrence (Simard and Savard in J Cancer Surviv 9:481-491. doi: 10.1007/s11764-015-0424-4 , 2015) was used to identify participants with non-clinical and clinical FCR and qualitative analysis of these interviews was performed. Individuals with clinical FCR reported the following features: death-related thoughts, feeling alone, belief that the cancer would return, experiencing intolerance of uncertainty, having cancer-related thoughts and imagery that were difficult to control, daily and recurrent, lasted 30 minutes or more, increased over time, caused distress and impacted their daily life. Triggers of FCR and coping strategies did not appear to be features of clinical FCR as they were reported by participants with a range of FCR scores. While features of clinical FCR found in this analysis such as intrusive thoughts, distress and impact on functioning confirmed previous FCR research, other features spontaneously emerged from the interviews including "death-related thoughts," "feeling alone," and "belief that the cancer will return." The participants' descriptions of cancer-specific fear and worry suggest that FCR is a distinct phenomenon related to cancer survivorship, despite similarities with psychological disorders (e.g., Anxiety Disorders). Future research investigating the construct of FCR, and the distinguishing features of clinical FCR across a range of cancer types and gender is required.

[Evolution of nodular scleritis with ultrasound biomicroscopy: case report].

PubMed

Martinez, Andrea Alejandra Gonzalez; Matos, Kimble Teixeira Fonseca; Trevisani, Virgínia; Hirai, Alcides; Allemann, Norma

2013-01-01

To establish evolutionary pattern of a case of nodular scleritis with high frequency ultrasound during treatment. Twenty-seven year old female, initial manifestation of intermediate uveitis, bilateral macular edema after clinical treatment with topical and oral steroids. After four months, we observed the formation of a scleral nodule in the right eye when patient underwent high frequency ultrasound (Paradigm, 50 MHz transducer, immersion technique). The lesion in right eye was characterized at high frequency ultrasound as a nodular lesion located at the anterior inferior temporal wall associated with localized reduction of scleral thickness. After intravitreal injection of triamcinolone for treatment of macular edema, clinical regression of the scleral nodule was observed in right eye, maintaining reduced scleral thickness. High frequency ultrasound assisted in the diagnosis of nodular scleritis during the phases of treatment and in the identify its characteristic sequel feature, the scleral thinning.

Hand stereotypies distinguish Rett syndrome from autism disorder.

PubMed

Goldman, Sylvie; Temudo, Teresa

2012-07-01

Rett syndrome (RTT) and autism disorder (AD) are 2 neurodevelopmental disorders of early life that share phenotypic features, one being hand stereotypies. Distinguishing RTT from AD often represents a challenge, and given their distinct long-term prognoses, this issue may have far-reaching implications. With the advances in genetic testing, the contribution of clinical manifestations in distinguishing RTT from AD has been overlooked. A comparison of hand stereotypies in 20 children with RTT and 20 with AD was performed using detailed analyses of videotaped standardized observations. Striking differences are observed between RTT and AD children. In RTT, hand stereotypies are predominantly complex, continuous, localized to the body midline, and involving mouthing. Conversely, in AD children, hand stereotypies are simple, bilateral, intermittent, and often involving objects. These results provide important clinical signs useful to the differential diagnosis of RTT versus AD, especially when genetic testing for RTT is not an option. Copyright © 2012 Movement Disorder Society.

Medical table: A major tool for antimicrobial stewardship policy.

PubMed

Roger, P-M; Demonchy, E; Risso, K; Courjon, J; Leroux, S; Leroux, E; Cua, É

2017-09-01

Infectious diseases are unpredictable, with heterogeneous clinical presentations, diverse pathogens, and various susceptibility rates to anti-infective agents. These features lead to a wide variety of clinical practices, which in turn strongly limits their evaluation. We have been using a medical table since 2005 to monitor the medical activity in our department. The observation of heterogeneous therapeutic practices led to drafting up our own antibiotic guidelines and to implementing a continuous evaluation of their observance and impact on morbidity and mortality associated with infectious diseases, including adverse effects of antibiotics, duration of hospital stay, use of intensive care, and deaths. The 10-year analysis of medical practices using the medical table is based on more than 10,000 hospitalizations. It shows simplified antibiotic therapies and a reduction in infection-related morbidity and mortality. The medical table is a major tool for antimicrobial stewardship, leading to constant benefits for patients. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Catatonia in Resource Limited Settings: A Case Series and Treatment Protocol

PubMed Central

Smith, Stephanie L.; Grelotti, David J.; Fils-Aime, Reginald; Uwimana, Eugenie; Ndikubwimana, Jean-Sauveur; Therosme, Tatiana; Severe, Jennifer; Dushimiyimana, Dominique; Uwamariya, Clemence; Bienvenu, Robert; Alcindor, Yoldie; Eustache, Eddy; Raviola, Giuseppe J.; Fricchione, Gregory L.

2014-01-01

Objective The Catatonic Syndrome (“catatonia”) is characterized by motor and motivation dysregulation and is associated with a number of neuropsychiatric and medical disorders. It is recognizable in a variety of clinical settings. We present observations from the treatment of four individuals with catatonia in Haiti and Rwanda, and introduce a treatment protocol for use in resource limited settings Methods Four patients from rural Haiti and Rwanda with clinical signs of catatonia and a positive screen using the Bush-Francis-Catatonia Rating Scale were treated collaboratively by general physicians and mental health clinicians with either lorazepam or diazepam. Success in treatment was clinically assessed by complete remittance of catatonia symptoms. Results The four patients in this report exhibited a range of characteristic and recognizable signs of catatonia, including immobility/stupor, stereotypic movements, echophenomena, posturing, odd mannerisms, mutism, and refusal to eat or drink. All four cases presented initially to rural outpatient general health services in low resource settings. In some cases, diagnostic uncertainty initially led to treatment with typical antipsychotics. In each case, proper identification and treatment of catatonia with benzodiazepines led to significant clinical improvement. Conclusion Catatonia can be effectively and inexpensively treated in resource limited settings. Identification and management of catatonia is critical for the health and safety of patients with this syndrome. Familiarity with the clinical features of catatonia is essential for health professionals working in low resource settings. To facilitate early recognition of this treatable disorder, catatonia should feature more prominently in global mental health discourse. PMID:25467078

Occurrence, clinical features and outcome of canine pancreatitis (80 cases).

PubMed

Pápa, Kinga; Máthé, Akos; Abonyi-Tóth, Zsolt; Sterczer, Agnes; Psáder, Roland; Hetyey, Csaba; Vajdovich, Péter; Vörös, Károly

2011-03-01

Medical records of 80 dogs diagnosed with acute pancreatitis during a 4-year period were evaluated regarding history, breed predilection, clinical signs and additional examination findings. Cases were selected if compatible clinical symptoms, increased serum activity of amylase or lipase and morphologic evidence of pancreatitis by ultrasonography, laparotomy or necropsy were all present. Like in other studies, neutered dogs had an increased risk of developing acute pancreatitis. Although breed predilection was consistent with earlier reports, some notable differences were also observed. Apart from Dachshunds, Poodles, Cocker Spaniels and Fox Terriers, the sled dogs (Laikas, Alaskan Malamutes) also demonstrated a higher risk for pancreatitis according to our results. Concurrent diseases occurred in 56 dogs (70%), diabetes mellitus (n = 29, 36%) being the most common. Clinical signs of acute pancreatitis were similar to those observed in other studies. The study group represented a dog population with severe acute pancreatitis, having a relatively high mortality rate (40%) compared to data of the literature. Breed, age, gender, neutering and body condition had no significant association with the outcome. Hypothermia (p = 0.0413) and metabolic acidosis (p = 0.0063) correlated significantly with poor prognosis and may serve as valuable markers for severity assessment in canine acute pancreatitis.

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

PubMed Central

Weemaes, Corry MR; van Tol, Maarten JD; Wang, Jun; van Ostaijen-ten Dam, Monique M; van Eggermond, Marja CJA; Thijssen, Peter E; Aytekin, Caner; Brunetti-Pierri, Nicola; van der Burg, Mirjam; Graham Davies, E; Ferster, Alina; Furthner, Dieter; Gimelli, Giorgio; Gennery, Andy; Kloeckener-Gruissem, Barbara; Meyn, Stephan; Powell, Cynthia; Reisli, Ismail; Schuetz, Catharina; Schulz, Ansgar; Shugar, Andrea; van den Elsen, Peter J; van der Maarel, Silvère M

2013-01-01

Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a primary immunodeficiency, predominantly characterized by agammaglobulinemia or hypoimmunoglobulinemia, centromere instability and facial anomalies. Mutations in two genes have been discovered to cause ICF syndrome: DNMT3B and ZBTB24. To characterize the clinical features of this syndrome, as well as genotype–phenotype correlations, we compared clinical and genetic data of 44 ICF patients. Of them, 23 had mutations in DNMT3B (ICF1), 13 patients had mutations in ZBTB24 (ICF2), whereas for 8 patients, the gene defect has not yet been identified (ICFX). While at first sight these patients share the same immunological, morphological and epigenetic hallmarks of the disease, systematic evaluation of all reported informative cases shows that: (1) the humoral immunodeficiency is generally more pronounced in ICF1 patients, (2) B- and T-cell compartments are both involved in ICF1 and ICF2, (3) ICF2 patients have a significantly higher incidence of intellectual disability and (4) congenital malformations can be observed in some ICF1 and ICF2 cases. It is expected that these observations on prevalence and clinical presentation will facilitate mutation-screening strategies and help in diagnostic counseling. PMID:23486536

Whipple's disease. Report of five cases with different clinical features.

PubMed

Ferrari, M de L; Vilela, E G; Faria, L C; Couto, C A; Salgado, C J; Leite, V R; Brasileiro Filho, G; Bambirra, E A; Mendes, C M; Carvalho, S de C; de Oliveira, C A; da Cunha, A S

2001-01-01

Whipple's disease (WD) is a rare systemic disease of infectious etiology which involves the small intestine but can virtually affect any organ. We present here five cases (four males and one female) ranging in age from 20 to 59 years. All patients had intestinal involvement associated or not with clinical manifestations linked to this organ. Vegetation in the tricuspid valve was observed in one patient, suggesting endocarditis caused by Tropheryma whippelii, with disappearance of the echocardiographic alterations after treatment. In one of the male patients the initial clinical manifestation was serologically negative spondylitis, with no diarrhea occurring at any time during follow-up. Ocular involvement associated with intestinal malabsorption and significant weight loss were observed in one case. In the other two cases, diarrhea was the major clinical manifestation. All patients were diagnosed by histological examination of the jejunal mucosa and, when indicated, of extraintestinal tissues by light and electron microscopy. After antibiotic treatment, full remission of symptoms occurred in all cases. A control examination of the intestinal mucosa performed after twelve months of treatment with sulfamethoxazole-trimethoprim revealed the disappearance of T. whippelii in four patients. The remaining patient was lost to follow-up.

Intracranial EEG fluctuates over months after implanting electrodes in human brain

NASA Astrophysics Data System (ADS)

Ung, Hoameng; Baldassano, Steven N.; Bink, Hank; Krieger, Abba M.; Williams, Shawniqua; Vitale, Flavia; Wu, Chengyuan; Freestone, Dean; Nurse, Ewan; Leyde, Kent; Davis, Kathryn A.; Cook, Mark; Litt, Brian

2017-10-01

Objective. Implanting subdural and penetrating electrodes in the brain causes acute trauma and inflammation that affect intracranial electroencephalographic (iEEG) recordings. This behavior and its potential impact on clinical decision-making and algorithms for implanted devices have not been assessed in detail. In this study we aim to characterize the temporal and spatial variability of continuous, prolonged human iEEG recordings. Approach. Intracranial electroencephalography from 15 patients with drug-refractory epilepsy, each implanted with 16 subdural electrodes and continuously monitored for an average of 18 months, was included in this study. Time and spectral domain features were computed each day for each channel for the duration of each patient’s recording. Metrics to capture post-implantation feature changes and inflexion points were computed on group and individual levels. A linear mixed model was used to characterize transient group-level changes in feature values post-implantation and independent linear models were used to describe individual variability. Main results. A significant decline in features important to seizure detection and prediction algorithms (mean line length, energy, and half-wave), as well as mean power in the Berger and high gamma bands, was observed in many patients over 100 d following implantation. In addition, spatial variability across electrodes declines post-implantation following a similar timeframe. All selected features decreased by 14-50% in the initial 75 d of recording on the group level, and at least one feature demonstrated this pattern in 13 of the 15 patients. Our findings indicate that iEEG signal features demonstrate increased variability following implantation, most notably in the weeks immediately post-implant. Significance. These findings suggest that conclusions drawn from iEEG, both clinically and for research, should account for spatiotemporal signal variability and that properly assessing the iEEG in patients, depending upon the application, may require extended monitoring.

New technologies, human-microbe interactions, and the search for previously unrecognized pathogens.

PubMed

Relman, David A

2002-12-01

Evidence suggests that a significant number of clinically important microbial pathogens remain unrecognized. Observations from the natural world, from patterns of disease in human populations, from the bedside, and from the clinical laboratory all contribute to this body of evidence. A variety of acute and chronic neurologic syndromes illustrate this point; despite features of infection, most cases of aseptic meningitis, encephalitis, and cerebral vasculitis cannot be assigned a microbiologic diagnosis. The development and clinical application of molecular methods have led to the discovery of novel members of the endogenous normal flora as well as putative disease agents. Current challenges include the establishment of criteria for disease causation and further characterization of the human microbiome during states of health. These challenges and the goal of understanding microbial contributions to inflammatory disease may be addressed effectively through the thoughtful integration of modern technologies and clinical insight.

Characterization of clinical and immunological features in patients coinfected with dengue virus and HIV.

PubMed

Torrentes-Carvalho, Amanda; Hottz, Eugênio Damaceno; Marinho, Cintia Ferreira; da Silva, Jéssica Badolato-Corrêa; Pinto, Luzia Maria de Oliveira; Fialho, Luciana Gomes; Bozza, Fernando Augusto; Cunha, Rivaldo Venâncio; Damasco, Paulo Vieira; Kubelka, Claire Fernandes; de Azeredo, Elzinandes Leal

2016-03-01

The pathogenesis of dengue in subjects coinfected with HIV remains largely unknown. We investigate clinical and immunological parameters in coinfected DENV/HIV patients. According to the new dengue classification, most coinfected DENV/HIV patients presented mild clinical manifestations of dengue infection. Herein, we show that DENV/HIV coinfected patients had higher CD8 T cells percentages reflected as a lower CD4/CD8 ratio. Furthermore, CCR5 expression on CD4 T cells and CD107a expression on both T subsets were significantly higher in coinfected patients when compared with monoinfected DENV and HIV individuals respectively. Increased inflammatory response was observed in treated HAART coinfected patients despite undetectable HIV load. These data indicate that DENV infection may influence the clinical profile and immune response in individuals concomitantly infected with HIV. Copyright © 2016 Elsevier Inc. All rights reserved.

Clinical Relationship between Cholestatic Disease and Pituitary-Dependent Hyperadrenocorticism in Dogs: A Retrospective Case Series.

PubMed

Kim, K-H; Han, S-M; Jeon, K-O; Kim, H-T; Li, Q; Ryu, M-O; Song, W-J; Park, S-C; Youn, H-Y

2017-03-01

A high prevalence of cholestatic disease, including gallbladder mucocele (GBM), has been reported in dogs with naturally occurring pituitary-dependent hyperadrenocorticism (PDH). Differences exist in the clinical features of dogs with PDH and concurrent cholestatic disease, and also is the management of these dogs with trilostane. Sixty-five client-owned dogs with naturally occurring PDH. This was a retrospective, observational case series. Each dog was treated with trilostane for at least 3 months before the study, and had a good clinical response, as determined by owners. Statistical comparisons of clinical signs, results of routine blood tests, basal and post-ACTH cortisol concentration, and optimal trilostane dosage were made after dogs were separated into the following 3 groups by ultrasonographic imaging: normal on ultrasound (NOU) group, cholestasis group, and GBM group. The GBM group had more severe clinical signs and significantly different total serum cholesterol concentration and post-ACTH stimulation cortisol concentration at the time of diagnosis. Dogs that weighed <6 kg had a significantly higher prevalence of cholestatic disease than did the other dogs (P = .003). The optimal trilostane dosages for the GBM and cholestasis groups were 2.5 and 1.5 times the dosage of the NOU group, respectively (P < .001). Gallbladder disease associated with cholestatic disease is correlated with PDH in dogs, in both its clinical features and drug management. These findings may be associated with hypercholesterolemia, unidentified genetic factors, and the hydrophobic nature of trilostane. Copyright © 2017 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.

PubMed

Fernández-Rebollo, Eduardo; Lecumberri, Beatriz; Gaztambide, Sonia; Martinez-Indart, Lorea; Perez de Nanclares, Guiomar; Castaño, Luis

2013-05-01

Recent advances in genetics and epigenetics have revealed an overlap between molecular and clinical features of pseudohypoparathyroidism (PHP) subtypes, broadening the previous spectrum of PHP genotype-phenotype correlations and indicating limitations of the current classification of the disease. The aim of the study was to screen patients with clinical diagnoses of PHP type I or pseudo-PHP for underlying molecular defects and explore possible correlations between molecular findings and clinical features. We investigated the GNAS locus at the molecular level in 72 affected patients (46 women and 26 men) from 56 nonrelated families. Clinical data were obtained for 63 of these patients (38 women and 25 men). The molecular analysis showed that 35 patients carried structural mutations, 32 had loss of methylation, and 2 had a 2q37 deletion but did not reveal any (epi)mutation for 3 patients. Comparing these results and the clinical data, we observed that a younger age at diagnosis was associated with structural defects at the GNAS gene and epigenetic defects with a diagnosis later in life (9.19 ± 1.64 vs 24.57 ± 2.28 years, P < .0001). This first global review of PHP in Spain highlights the importance of a detailed clinical and genetic study of each patient and the integrated analysis of the findings from the two approaches. It may also help geneticists and clinicians to raise the suspicion of PHP earlier, reach more accurate diagnoses, and provide patients with PHP and their families with useful genetic information and counseling, thereby improving outcomes and quality of life.

Clinical photographic observation of plantar corns and callus associated with a nominal scale classification and inter- observer reliability study in a student population.

PubMed

Tollafield, David R

2017-01-01

The management of plantar corns and callus has a low cost-benefit with reduced prioritisation in healthcare. The distinction between types of keratin lesions that forms corns and callus has attracted limited interest. Observation is imperative to improving diagnostic predictions and a number of studies point to some confusion as to how best to achieve this. The use of photographic observation has been proposed to improve our understanding of intractable keratin lesions. Students from a podiatry school reviewed photographs where plantar keratin lesions were divided into four nominal groups; light callus (Grade 1), heavy defined callus (Grade 2), concentric keratin plugs (Grade 3) and callus with deeper density changes under the forefoot (Grade 4). A group of 'experts' assigned from qualified podiatrists validated the observer rated responses by the students. Cohen's weighted statistic (k) was used to measure inter-observer reliability. First year students (unskilled) performed less well when viewing photographs ( k  = 0.33) compared to third year students (semi-skilled, k  = 0.62). The experts performed better than students ( k  = 0.88) providing consistency with wound care models in other studies. Improved clinical annotation of clinical features, supported by classification of keratin- based lesions, combined with patient outcome tools, could improve the scientific rationale to prioritise patient care. Problems associated with photographic assessment involves trying to differentiate similar lesions without the benefit of direct palpation. Direct observation of callus with and without debridement requires further investigation alongside the model proposed in this paper.

Machine Learning Approach for Classifying Multiple Sclerosis Courses by Combining Clinical Data with Lesion Loads and Magnetic Resonance Metabolic Features.

PubMed

Ion-Mărgineanu, Adrian; Kocevar, Gabriel; Stamile, Claudio; Sima, Diana M; Durand-Dubief, Françoise; Van Huffel, Sabine; Sappey-Marinier, Dominique

2017-01-01

Purpose: The purpose of this study is classifying multiple sclerosis (MS) patients in the four clinical forms as defined by the McDonald criteria using machine learning algorithms trained on clinical data combined with lesion loads and magnetic resonance metabolic features. Materials and Methods: Eighty-seven MS patients [12 Clinically Isolated Syndrome (CIS), 30 Relapse Remitting (RR), 17 Primary Progressive (PP), and 28 Secondary Progressive (SP)] and 18 healthy controls were included in this study. Longitudinal data available for each MS patient included clinical (e.g., age, disease duration, Expanded Disability Status Scale), conventional magnetic resonance imaging and spectroscopic imaging. We extract N -acetyl-aspartate (NAA), Choline (Cho), and Creatine (Cre) concentrations, and we compute three features for each spectroscopic grid by averaging metabolite ratios (NAA/Cho, NAA/Cre, Cho/Cre) over good quality voxels. We built linear mixed-effects models to test for statistically significant differences between MS forms. We test nine binary classification tasks on clinical data, lesion loads, and metabolic features, using a leave-one-patient-out cross-validation method based on 100 random patient-based bootstrap selections. We compute F1-scores and BAR values after tuning Linear Discriminant Analysis (LDA), Support Vector Machines with gaussian kernel (SVM-rbf), and Random Forests. Results: Statistically significant differences were found between the disease starting points of each MS form using four different response variables: Lesion Load, NAA/Cre, NAA/Cho, and Cho/Cre ratios. Training SVM-rbf on clinical and lesion loads yields F1-scores of 71-72% for CIS vs. RR and CIS vs. RR+SP, respectively. For RR vs. PP we obtained good classification results (maximum F1-score of 85%) after training LDA on clinical and metabolic features, while for RR vs. SP we obtained slightly higher classification results (maximum F1-score of 87%) after training LDA and SVM-rbf on clinical, lesion loads and metabolic features. Conclusions: Our results suggest that metabolic features are better at differentiating between relapsing-remitting and primary progressive forms, while lesion loads are better at differentiating between relapsing-remitting and secondary progressive forms. Therefore, combining clinical data with magnetic resonance lesion loads and metabolic features can improve the discrimination between relapsing-remitting and progressive forms.

Clinical and diagnostic features of delayed hypoxic leukoencephalopathy.

PubMed

Shprecher, David R; Flanigan, Kevin M; Smith, A Gordon; Smith, Shawn M; Schenkenberg, Thomas; Steffens, John

2008-01-01

Delayed hypoxic leukoencephalopathy is an underrecognized syndrome of delayed demyelination, which is important to consider when delayed onset of neuropsychiatric symptoms follows a hypoxic event. The authors describe clinical and diagnostic features of three such cases, review the pathophysiology of delayed hypoxic leukoencephalopathy, and discuss features which may help distinguish it from toxic leukoencephalopathy.

Possible modification of Alzheimer's disease by statins in midlife: interactions with genetic and non-genetic risk factors.

PubMed

Shinohara, Mitsuru; Sato, Naoyuki; Shimamura, Munehisa; Kurinami, Hitomi; Hamasaki, Toshimitsu; Chatterjee, Amarnath; Rakugi, Hiromi; Morishita, Ryuichi

2014-01-01

The benefits of statins, commonly prescribed for hypercholesterolemia, in treating Alzheimer's disease (AD) have not yet been fully established. A recent randomized clinical trial did not show any therapeutic effects of two statins on cognitive function in AD. Interestingly, however, the results of the Rotterdam study, one of the largest prospective cohort studies, showed reduced risk of AD in statin users. Based on the current understanding of statin actions and AD pathogenesis, it is still worth exploring whether statins can prevent AD when administered decades before the onset of AD or from midlife. This review discusses the possible beneficial effects of statins, drawn from previous clinical observations, pathogenic mechanisms, which include β-amyloid (Aβ) and tau metabolism, genetic and non-genetic risk factors (apolipoprotein E, cholesterol, sex, hypertension, and diabetes), and other clinical features (vascular dysfunction and oxidative and inflammatory stress) of AD. These findings suggest that administration of statins in midlife might prevent AD in late life by modifying genetic and non-genetic risk factors for AD. It should be clarified whether statins inhibit Aβ accumulation, tau pathological features, and brain atrophy in humans. To answer this question, a randomized controlled study using amyloid positron emission tomography (PET), tau-PET, and magnetic resonance imaging would be useful. This clinical evaluation could help us to overcome this devastating disease.

Clinical and laboratory features of systemic sclerosis complicated with localized scleroderma.

PubMed

Toki, Sayaka; Motegi, Sei-ichiro; Yamada, Kazuya; Uchiyama, Akihiko; Kanai, Sahori; Yamanaka, Masayoshi; Ishikawa, Osamu

2015-03-01

Localized scleroderma (LSc) primarily affects skin, whereas systemic sclerosis (SSc) affects skin and various internal organs. LSc and SSc are considered to be basically different diseases, and there is no transition between them. However, LSc and SSc have several common characteristics, including endothelial cell dysfunction, immune activation, and excess fibrosis of the skin, and there exist several SSc cases complicated with LSc during the course of SSc. Clinical and laboratory characteristics of SSc patients with LSc remain unclear. We investigated the clinical and laboratory features of 8 SSc patients with LSc among 220 SSc patients (3.6%). The types of LSc included plaque (5/8), guttate (2/8), and linear type (1/8). All cases were diagnosed as having SSc within 5 years before or after the appearance of LSc. In three cases of SSc with LSc (37.5%), LSc skin lesions preceded clinical symptoms of SSc. Young age, negative antinuclear antibody, and positive anti-RNA polymerase III antibody were significantly prevalent in SSc patients with LSc. The positivity of anticentromere antibody tended to be prevalent in SSc patients without LSc. No significant difference in the frequency of complications, such as interstitial lung disease, reflux esophagitis, and pulmonary artery hypertension, was observed. The awareness of these characteristic of SSc with LSc are essential to establish an early diagnosis and treatment. © 2015 Japanese Dermatological Association.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Fried, D; Meier, J; Mawlawi, O

Purpose: Use a NEMA-IEC PET phantom to assess the robustness of FDG-PET-based radiomics features to changes in reconstruction parameters across different scanners. Methods: We scanned a NEMA-IEC PET phantom on 3 different scanners (GE Discovery VCT, GE Discovery 710, and Siemens mCT) using a FDG source-to-background ratio of 10:1. Images were retrospectively reconstructed using different iterations (2–3), subsets (21–24), Gaussian filter widths (2, 4, 6mm), and matrix sizes (128,192,256). The 710 and mCT used time-of-flight and point-spread-functions in reconstruction. The axial-image through the center of the 6 active spheres was used for analysis. A region-of-interest containing all spheres was ablemore » to simulate a heterogeneous lesion due to partial volume effects. Maximum voxel deviations from all retrospectively reconstructed images (18 per scanner) was compared to our standard clinical protocol. PET Images from 195 non-small cell lung cancer patients were used to compare feature variation. The ratio of a feature’s standard deviation from the patient cohort versus the phantom images was calculated to assess for feature robustness. Results: Across all images, the percentage of voxels differing by <1SUV and <2SUV ranged from 61–92% and 88–99%, respectively. Voxel-voxel similarity decreased when using higher resolution image matrices (192/256 versus 128) and was comparable across scanners. Taking the ratio of patient and phantom feature standard deviation was able to identify features that were not robust to changes in reconstruction parameters (e.g. co-occurrence correlation). Metrics found to be reasonably robust (standard deviation ratios > 3) were observed for routinely used SUV metrics (e.g. SUVmean and SUVmax) as well as some radiomics features (e.g. co-occurrence contrast, co-occurrence energy, standard deviation, and uniformity). Similar standard deviation ratios were observed across scanners. Conclusions: Our method enabled a comparison of feature variability across scanners and was able to identify features that were not robust to changes in reconstruction parameters.« less

Do Orthopaedic Oncologists Agree on the Diagnosis and Treatment of Cartilage Tumors of the Appendicular Skeleton?

PubMed

Zamora, Tomas; Urrutia, Julio; Schweitzer, Daniel; Amenabar, Pedro Pablo; Botello, Eduardo

2017-09-01

Distinguishing a benign enchondroma from a low-grade chondrosarcoma is a common diagnostic challenge for orthopaedic oncologists. Low interrater agreement has been observed for the diagnosis of cartilaginous neoplasms among radiologists and pathologists, but, to our knowledge, no study has evaluated inter- and intraobserver agreement among orthopaedic oncologists grading these lesions using initial clinical and imaging information. Determining such agreement is important since it reflects the certainty in the diagnosis by orthopaedic oncologists. Agreement also is important as it will guide future treatment and prognosis, considering that there is no gold standard for diagnosis of these lesions. (1) to determine inter- and intraobserver agreement among a multinational panel of expert orthopaedic oncologists in diagnosing cartilaginous neoplasms based on their assessment of clinical symptoms and imaging at diagnosis. (2) To describe the most important clinical and imaging features that experts use during the initial diagnostic process. (3) To determine interobserver agreement for proposed initial treatment strategies for cartilaginous neoplasms by this panel of evaluators. Thirty-nine patients with intramedullary cartilaginous neoplasms of the appendicular skeleton of various histopathologic grades were selected and classified as having benign, low-grade malignant, or intermediate- or high-grade malignant neoplasms by 10 experienced orthopaedic oncologists based on clinical and imaging information. Additionally, they chose the three most important clinical or imaging features for the diagnosis of these neoplasms, and they proposed a treatment strategy for each patient. The Kappa coefficient (κ) was used to determine inter- and intraobserver agreement. Inter- and intraobserver agreements were only fair to good, κ = 0.44(95% CI, 0.41-0.48) and κ = 0.62 (95% CI, 0.52-0.72), respectively. The three factors most frequently identified as helpful in making the diagnosis by our panel were cortical involvement in 65% of evaluations (253/390), neoplasm size in 51% (198/390), and pain in 50% (194/390). The interobserver agreement for the proposed initial treatment strategy after diagnosis was poor (κ = 0.21; 95% CI, 0.18-0.24). This study showed barely fair interobserver and fair to good intraobserver agreement for grading of intramedullary cartilaginous neoplasms by orthopaedic oncologists using initial clinical and imaging findings. These results reflect the insufficient guidance interpreting clinical and imaging features, and the limitations of the systems we use today when making these diagnoses. In the same way, they generate concern for the implications that this may have on different treatment strategies and the future prognosis of our patients. Future studies should build on these observations and focus on clarifying our criteria of diagnosis so that treatment recommendations are standardized regardless of the treating institution or oncologist. Level III, diagnostic study.

Multi-modal classification of neurodegenerative disease by progressive graph-based transductive learning

PubMed Central

Wang, Zhengxia; Zhu, Xiaofeng; Adeli, Ehsan; Zhu, Yingying; Nie, Feiping; Munsell, Brent

2018-01-01

Graph-based transductive learning (GTL) is a powerful machine learning technique that is used when sufficient training data is not available. In particular, conventional GTL approaches first construct a fixed inter-subject relation graph that is based on similarities in voxel intensity values in the feature domain, which can then be used to propagate the known phenotype data (i.e., clinical scores and labels) from the training data to the testing data in the label domain. However, this type of graph is exclusively learned in the feature domain, and primarily due to outliers in the observed features, may not be optimal for label propagation in the label domain. To address this limitation, a progressive GTL (pGTL) method is proposed that gradually finds an intrinsic data representation that more accurately aligns imaging features with the phenotype data. In general, optimal feature-to-phenotype alignment is achieved using an iterative approach that: (1) refines inter-subject relationships observed in the feature domain by using the learned intrinsic data representation in the label domain, (2) updates the intrinsic data representation from the refined inter-subject relationships, and (3) verifies the intrinsic data representation on the training data to guarantee an optimal classification when applied to testing data. Additionally, the iterative approach is extended to multi-modal imaging data to further improve pGTL classification accuracy. Using Alzheimer’s disease and Parkinson’s disease study data, the classification accuracy of the proposed pGTL method is compared to several state-of-the-art classification methods, and the results show pGTL can more accurately identify subjects, even at different progression stages, in these two study data sets. PMID:28551556

Photos of Measles and People with Measles

MedlinePlus

... children. Viewing discretion is advised. Measles Clinical Features Video CDC’s Dr. Raymond Strikas, MD, describes clinical features of measles infection. Video, 3:15 minutes Video transcript [1 page] Measles ...

Factors affecting outcome in children with snake envenomation: a prospective observational study.

PubMed

Sankar, Jhuma; Nabeel, Rehana; Sankar, M Jeeva; Priyambada, Leena; Mahadevan, S

2013-08-01

To evaluate clinical outcome and factors affecting outcome in children with snake envenomation. Prospective observational study. Paediatric intensive care unit of a tertiary care teaching hospital in India. We prospectively enrolled children ≤12 years of age admitted to our hospital with a definitive history of snake bite from August 2007 to June 2010. Demographic characteristics and clinical course of the enrolled children were recorded in a structured proforma and analysed using appropriate statistical methods. Children were treated as per the WHO guidelines (2005) on the management of snake bite in children. Of 110 children studied, 77 (69%) were male. Most (72; 64.2%) had features predominantly of haematotoxic envenomation while 20 (18%) and 18 (16%) children had features of neurotoxic envenomation and local involvement, respectively. 14 children (13%) died and 13 (12%) had major disabilities. On univariable analysis, the following prehospital and admission variables were found to be significantly associated with poor outcome: age, walking for >1 km after the bite, vomiting, haemoglobin ≤10 g/dl at admission and species of snake (cobra). On multivariable analysis, only younger age (adjusted OR 0.85; 95% CI 0.7 to 0.9), walking for >1 km after the bite (adjusted OR 57; 95% CI 4.2 to 782) and haemoglobin ≤10 g/dl at admission (adjusted OR 6; 95% CI 2 to 18.2) remained significant. Younger age at presentation, anaemia (haemoglobin ≤10 g/dl) and distance walked after the bite may be independent predictors of mortality and morbidity in children with snake bite. These features in victims of snake bite warrant early referral to and management in tertiary care centres.

Features of intrinsic ganglionated plexi in both atria after extensive pulmonary isolation and their clinical significance after catheter ablation in patients with atrial fibrillation.

PubMed

Kurotobi, Toshiya; Shimada, Yoshihisa; Kino, Naoto; Ito, Kazato; Tonomura, Daisuke; Yano, Kentaro; Tanaka, Chiharu; Yoshida, Masataka; Tsuchida, Takao; Fukumoto, Hitoshi

2015-03-01

The features of intrinsic ganglionated plexi (GP) in both atria after extensive pulmonary vein isolation (PVI) and their clinical implications have not been clarified in patients with atrial fibrillation (AF). The purpose of this study was to assess the features of GP response after extensive PVI and to evaluate the relationship between GP responses and subsequent AF episodes. The study population consisted of 216 consecutive AF patients (104 persistent AF) who underwent an initial ablation. We searched for the GP sites in both atria after an extensive PVI. GP responses were determined in 186 of 216 patients (85.6%). In the left atrium, GP responses were observed around the right inferior GP in 116 of 216 patients (53.7%) and around the left inferior GP in 57 of 216 (26.4%). In the right atrium, GP responses were observed around the posteroseptal area: inside the CS in 64 of 216 patients (29.6%), at the CS ostium in 150 of 216 (69.4%), and in the lower right atrium in 45 of 216 (20.8%). The presence of a positive GP response was an independent risk factor for AF recurrence (hazard ratio 4.04, confidence interval 1.48-11.0) in patients with paroxysmal, but not persistent, AF. The incidence of recurrent atrial tachyarrhythmias in patients with paroxysmal AF with a positive GP response was 51% vs 8% in those without a GP response (P = .002). The presence of GP responses after extensive PVI was significantly associated with increased AF recurrence after ablation in patients with paroxysmal AF. Copyright © 2015 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

Queensland tick typhus: three cases with unusual clinical features.

PubMed

Wilson, P A; Tierney, L; Lai, K; Graves, S

2013-07-01

Queensland tick typhus (QTT), caused by Rickettsia australis, is usually a relatively mild illness but can occasionally be severe. We describe three cases of probable QTT with unusual clinical features, namely splenic infarction, fulminant myopericarditis and severe leukocytoclastic vasculitis. QTT may present with uncommon clinical features in addition to the more common manifestations. A high index of suspicion enables specific antibiotic therapy that may hasten recovery. © 2013 The Authors; Internal Medicine Journal © 2013 Royal Australasian College of Physicians.

Behçet disease in Western Algeria.

PubMed

Ghembaza, M E A; Bouabdallah, N; Lounici, A

2017-02-01

The aim of the current study was to describe the epidemiological and clinical features of Behçet disease in western Algeria. This observational retrospective study examined records for patients with Behçet disease seen in our department from 1990 to 2015. Of the 61 patients included in the study, 80.3% were men, for a sex ratio of 4.08. The mean age at onset was 27.2±7 years, and the mean interval between the onset of symptoms and diagnosis was 4.8±6.3 years. Dermatologic manifestations were the most common finding. Oral ulcers were seen in all patients, genital ulcers in 60%, pseudofolliculitis in 56.4%, and erythema nodosum in 13.5%. A pathergy test was positive in 20% of the patients. The frequencies of the remaining manifestations were as follows: joint involvement 50%, ocular involvement 71.2%, vascular complications 29.6%, neurological involvement 19%, and gastrointestinal complications 7.5%. Besides dermatological manifestations, ocular and vascular complications were the most common features observed in our patients.

Actual vs perceived performance debriefing in surgery: practice far from perfect.

PubMed

Ahmed, Maria; Sevdalis, Nick; Vincent, Charles; Arora, Sonal

2013-04-01

Performance feedback or debriefing in surgery is increasingly recognized as an essential means to optimize learning in the operating room (OR). However, there is a lack of evidence regarding the current practice and barriers to debriefing in the OR. Phase 1 consisted of semistructured interviews with surgical trainers and trainees to identify features of an effective debriefing and perceived barriers to debriefing. Phase 2 consisted of ethnographic observations of surgical cases to identify current practice and observed barriers to debriefing. Surgical trainers and trainees identified key features of effective debriefing with regard to the approach and content; however, these were not commonly identified in practice. Culture was recognized as a significant barrier to debriefing across both phases of the study. There is a disparity between what the surgical community views as effective debriefing and actual debriefing practices in the OR. Improvements to the current debriefing culture and practice within the field of surgery should be considered to facilitate learning from clinical practice. Copyright © 2013. Published by Elsevier Inc.

Hippocampal sclerosis of aging is a key Alzheimer's disease mimic: clinical-pathologic correlations and comparisons with both alzheimer's disease and non-tauopathic frontotemporal lobar degeneration.

PubMed

Brenowitz, Willa D; Monsell, Sarah E; Schmitt, Frederick A; Kukull, Walter A; Nelson, Peter T

2014-01-01

Hippocampal sclerosis of aging (HS-Aging) neuropathology was observed in more than 15% of aged individuals in prior studies. However, much remains unknown about the clinical correlates of HS-Aging pathology or the association(s) between HS-Aging, Alzheimer's disease (AD), and frontotemporal lobar degeneration (FTLD) pathology. Clinical and comorbid pathological features linked to HS-Aging pathology were analyzed using National Alzheimer's Coordinating Center (NACC) data. From autopsy data extending back to 1990 (n = 9,817 participants), the neuropathological diagnoses were evaluated from American AD Centers (ADCs). Among participants who died between 2005-2012 (n = 1,422), additional analyses identified clinical and pathological features associated with HS-Aging pathology. We also compared cognitive testing and longevity outcomes between HS-Aging cases and a subsample with non-tauopathy FTLD (n = 210). Reporting of HS-Aging pathology increased dramatically among ADCs in recent years, to nearly 20% of autopsies in 2012. Participants with relatively "pure" HS-Aging pathology were often diagnosed clinically as having probable (68%) or possible (15%) AD. However, the co-occurrence of HS-Aging pathology and AD neuropathology (AD-NP) did not indicate any pattern of correlation between the two pathologies. Compared with other pathologies, participants with HS-Aging pathology had higher overall cognitive/functional ability (versus AD-NP) and verbal fluency (versus both AD-NP and FTLD) but similar episodic memory impairment at one clinic visit 2-5 years prior to death. Patients with HS-Aging live considerably longer than patients with non-tauopathy FTLD. We conclude that the manifestations of HS-Aging, increasingly recognized in recent years, probably indicate a separate disease process of direct relevance to patient care, dementia research, and clinical trials.

Hippocampal sclerosis of aging is a key Alzheimer's disease mimic: clinical-pathologic correlations and comparisons with both Alzheimer's disease and non-tauopathic frontotemporal lobar degeneration

PubMed Central

Brenowitz, Willa D.; Monsell, Sarah E.; Schmitt, Frederick A.; Kukull, Walter A.; Nelson, Peter T.

2013-01-01

Hippocampal sclerosis of aging (HS-Aging) neuropathology was observed in more than 15% of aged individuals in prior studies. However, much remains unknown about the clinical correlates of HS-Aging pathology or the association(s) between HS-Aging, Alzheimer's disease (AD), and frontotemporal lobar degeneration (FTLD) pathology. Clinical and comorbid pathological features linked to HS-Aging pathology were analyzed using National Alzheimer's Coordinating Center (NACC) data. From autopsy data extending back to 1990 (N=9,817 participants), the neuropathologic diagnoses were evaluated from American AD Centers (ADCs). Among participants who died between 2005-2012 (N=1,422), additional analyses identified clinical and pathological features associated with HS-Aging pathology. We also compared cognitive testing and longevity outcomes between HS-Aging cases and a subsample with non-tauopathy FTLD (N=210). Reporting of HS pathology increased dramatically among ADCs in recent years, to nearly 20% of autopsies in 2012. Participants with relatively “pure” HS-Aging pathology were often diagnosed clinically as having probable (68%) or possible (15%) AD. However, the co-occurrence of HS-Aging pathology and AD neuropathology (AD-NP) did not indicate any pattern of correlation between the two pathologies. Compared other pathologies, participants with HS-Aging pathology had higher overall cognitive/functional ability (versus AD-NP) and verbal fluency (versus both AD-NP and FTLD) but similar episodic memory impairment at one clinic visit 2 -5 years prior to death. Patients with HS-Aging live considerably longer than patients with non-tauopathy FTLD. We conclude that the manifestations of HS-Aging, increasingly recognized in recent years, probably indicate a separate disease process of direct relevance to patient care, dementia research, and clinical trials. PMID:24270205

TU-D-207B-02: Delta-Radiomics: The Prognostic Value of Therapy-Induced Changes in Radiomics Features for Stage III Non-Small Cell Lung Cancer Patients

DOE Office of Scientific and Technical Information (OSTI.GOV)

Fave, X; Court, L; UT Health Science Center, Graduate School of Biomedical Sciences, Houston, TX

Purpose: To determine how radiomics features change during radiation therapy and whether those changes (delta-radiomics features) can improve prognostic models built with clinical factors. Methods: 62 radiomics features, including histogram, co-occurrence, run-length, gray-tone difference, and shape features, were calculated from pretreatment and weekly intra-treatment CTs for 107 stage III NSCLC patients (5–9 images per patient). Image preprocessing for each feature was determined using the set of pretreatment images: bit-depth resample and/or a smoothing filter were tested for their impact on volume-correlation and significance of each feature in univariate cox regression models to maximize their information content. Next, the optimized featuresmore » were calculated from the intratreatment images and tested in linear mixed-effects models to determine which features changed significantly with dose-fraction. The slopes in these significant features were defined as delta-radiomics features. To test their prognostic potential multivariate cox regression models were fitted, first using only clinical features and then clinical+delta-radiomics features for overall-survival, local-recurrence, and distant-metastases. Leave-one-out cross validation was used for model-fitting and patient predictions. Concordance indices(c-index) and p-values for the log-rank test with patients stratified at the median were calculated. Results: Approximately one-half of the 62 optimized features required no preprocessing, one-fourth required smoothing, and one-fourth required smoothing and resampling. From these, 54 changed significantly during treatment. For overall-survival, the c-index improved from 0.52 for clinical factors alone to 0.62 for clinical+delta-radiomics features. For distant-metastases, the c-index improved from 0.53 to 0.58, while for local-recurrence it did not improve. Patient stratification significantly improved (p-value<0.05) for overallsurvival and distant-metastases when delta-radiomics features were included. The delta-radiomics versions of autocorrelation, kurtosis, and compactness were selected most frequently in leave-one-out iterations. Conclusion: Weekly changes in radiomics features can potentially be used to evaluate treatment response and predict patient outcomes. High-risk patients could be recommended for dose escalation or consolidation chemotherapy. This project was funded in part by grants from the National Cancer Institute (NCI) and the Cancer Prevention Research Institute of Texas (CPRIT).« less

Systematic interrogation of diverse Omic data reveals interpretable, robust, and generalizable transcriptomic features of clinically successful therapeutic targets.

PubMed

Rouillard, Andrew D; Hurle, Mark R; Agarwal, Pankaj

2018-05-01

Target selection is the first and pivotal step in drug discovery. An incorrect choice may not manifest itself for many years after hundreds of millions of research dollars have been spent. We collected a set of 332 targets that succeeded or failed in phase III clinical trials, and explored whether Omic features describing the target genes could predict clinical success. We obtained features from the recently published comprehensive resource: Harmonizome. Nineteen features appeared to be significantly correlated with phase III clinical trial outcomes, but only 4 passed validation schemes that used bootstrapping or modified permutation tests to assess feature robustness and generalizability while accounting for target class selection bias. We also used classifiers to perform multivariate feature selection and found that classifiers with a single feature performed as well in cross-validation as classifiers with more features (AUROC = 0.57 and AUPR = 0.81). The two predominantly selected features were mean mRNA expression across tissues and standard deviation of expression across tissues, where successful targets tended to have lower mean expression and higher expression variance than failed targets. This finding supports the conventional wisdom that it is favorable for a target to be present in the tissue(s) affected by a disease and absent from other tissues. Overall, our results suggest that it is feasible to construct a model integrating interpretable target features to inform target selection. We anticipate deeper insights and better models in the future, as researchers can reuse the data we have provided to improve methods for handling sample biases and learn more informative features. Code, documentation, and data for this study have been deposited on GitHub at https://github.com/arouillard/omic-features-successful-targets.

Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis.

PubMed

Teruel, María; Simeon, Carmen P; Broen, Jasper; Vonk, Madelon C; Carreira, Patricia; Camps, Maria Teresa; García-Portales, Rosa; Delgado-Frías, Esmeralda; Gallego, Maria; Espinosa, Gerard; Beretta, Lorenzo; Airó, Paolo; Lunardi, Claudio; Riemekasten, Gabriela; Witte, Torsten; Krieg, Thomas; Kreuter, Alexander; Distler, Jörg H W; Hunzelmann, Nicolas; Koeleman, Bobby P; Voskuyl, Alexandre E; Schuerwegh, Annemie J; González-Gay, Miguel Angel; Radstake, Timothy R D J; Martin, Javier

2012-06-25

The aim of the present study was to investigate the possible role of CD40 and CD40 ligand (CD40LG) genes in the susceptibility and phenotype expression of systemic sclerosis (SSc). In total, 2,670 SSc patients and 3,245 healthy individuals from four European populations (Spain, Germany, The Netherlands, and Italy) were included in the study. Five single-nucleotide polymorphisms (SNPs) of CD40 (rs1883832, rs4810485, rs1535045) and CD40LG (rs3092952, rs3092920) were genotyped by using a predesigned TaqMan allele-discrimination assay technology. Meta-analysis was assessed to determine whether an association exists between the genetic variants and SSc or its main clinical subtypes. No evidence of association between CD40 and CD40LG genes variants and susceptibility to SSc was observed. Similarly, no significant statistical differences were observed when SSc patients were stratified by the clinical subtypes, the serologic features, and pulmonary fibrosis. Our results do not suggest an important role of CD40 and CD40LG gene polymorphisms in the susceptibility to or clinical expression of SSc.

The histological diagnosis of metastases to the breast from extramammary malignancies

PubMed Central

Lee, Andrew H S

2007-01-01

This study aims to review histological and immunohistochemical features that are useful in the diagnosis of metastases to the breast. Histological features were compared between non‐haematological metastases to the breast and 100 consecutive core biopsy specimens of primary invasive carcinomas of the breast. 18 non‐haematological metastases to the breast were diagnosed over a 10‐year period (0.3% of malignant mammary tumours). Elastosis and carcinoma in situ were seen only in primary mammary cancers. Two‐thirds of tumours had features raising the possibility of metastasis, such as clear cell carcinoma suggestive of renal origin and small cell carcinoma suggestive of pulmonary origin. The features observed in haematological metastases are also described. Immunohistochemical panels to distinguish mammary carcinoma (oestrogen receptor, gross cystic fluid protein‐15) from common metastases to the breast, including carcinoma of the lung (thyroid transcription factor‐1), malignant melanoma (S100, HMB45, melan‐A) and ovarian serous papillary carcinoma (Wilms' tumour 1), are discussed. The pathologist has a key role in considering the diagnosis of metastasis to the breast if the histological features are unusual for a primary mammary tumour. The clinical history is vital in some cases. Immunohistochemistry plays a useful supplementary role. PMID:18042689

Radiographic Features of Acute Patellar Tendon Rupture.

PubMed

Fazal, Muhammad Ali; Moonot, Pradeep; Haddad, Fares

2015-11-01

The purpose of our study was to assess soft tissue features of acute patellar tendon rupture on lateral knee radiograph that would facilitate early diagnosis. The participants were divided into two groups of 35 patients each. There were 28 men and seven women with a mean age of 46 years in the control group and 26 men and nine women with a mean age of 47 years in the rupture group. The lateral knee radiograph of each patient was evaluated for Insall-Salvati ratio for patella alta, increased density of the infrapatellar fat pad, appearance of the soft tissue margin of the patellar tendon and bony avulsions. In the rupture group there were three consistent soft tissue radiographic features in addition to patellar alta. These were increased density of infrapatellar fat pad; loss of sharp, well-defined linear margins of the patellar tendon and angulated wavy margin of the patellar tendon while in the control group these features were not observed. The soft tissue radiographic features described in the rupture group are consistent and reliable. When coupled with careful clinical assessment, these will aid in early diagnosis and further imaging will be seldom required. © 2015 Chinese Orthopaedic Association and Wiley Publishing Asia Pty Ltd.

Iris-based medical analysis by geometric deformation features.

PubMed

Ma, Lin; Zhang, D; Li, Naimin; Cai, Yan; Zuo, Wangmeng; Wang, Kuanguan

2013-01-01

Iris analysis studies the relationship between human health and changes in the anatomy of the iris. Apart from the fact that iris recognition focuses on modeling the overall structure of the iris, iris diagnosis emphasizes the detecting and analyzing of local variations in the characteristics of irises. This paper focuses on studying the geometrical structure changes in irises that are caused by gastrointestinal diseases, and on measuring the observable deformations in the geometrical structures of irises that are related to roundness, diameter and other geometric forms of the pupil and the collarette. Pupil and collarette based features are defined and extracted. A series of experiments are implemented on our experimental pathological iris database, including manual clustering of both normal and pathological iris images, manual classification by non-specialists, manual classification by individuals with a medical background, classification ability verification for the proposed features, and disease recognition by applying the proposed features. The results prove the effectiveness and clinical diagnostic significance of the proposed features and a reliable recognition performance for automatic disease diagnosis. Our research results offer a novel systematic perspective for iridology studies and promote the progress of both theoretical and practical work in iris diagnosis.

The histological diagnosis of metastases to the breast from extramammary malignancies.

PubMed

Lee, Andrew H S

2007-12-01

This study aims to review histological and immunohistochemical features that are useful in the diagnosis of metastases to the breast. Histological features were compared between non-haematological metastases to the breast and 100 consecutive core biopsy specimens of primary invasive carcinomas of the breast. 18 non-haematological metastases to the breast were diagnosed over a 10-year period (0.3% of malignant mammary tumours). Elastosis and carcinoma in situ were seen only in primary mammary cancers. Two-thirds of tumours had features raising the possibility of metastasis, such as clear cell carcinoma suggestive of renal origin and small cell carcinoma suggestive of pulmonary origin. The features observed in haematological metastases are also described. Immunohistochemical panels to distinguish mammary carcinoma (oestrogen receptor, gross cystic fluid protein-15) from common metastases to the breast, including carcinoma of the lung (thyroid transcription factor-1), malignant melanoma (S100, HMB45, melan-A) and ovarian serous papillary carcinoma (Wilms' tumour 1), are discussed. The pathologist has a key role in considering the diagnosis of metastasis to the breast if the histological features are unusual for a primary mammary tumour. The clinical history is vital in some cases. Immunohistochemistry plays a useful supplementary role.

Variable uptake feature of focal nodular hyperplasia in Tc-99m phytate hepatic scintigraphy/single-photon emission computed tomography-A parametric analysis.

PubMed

Hsu, Yu-Ling; Chen, Yu-Wen; Lin, Chia-Yang; Lai, Yun-Chang; Chen, Shinn-Cherng; Lin, Zu-Yau

2015-12-01

Tc-99m phytate hepatic scintigraphy remains the standard method for evaluating the functional features of Kupffer cells. In this study, we demonstrate the variable uptake feature of focal nodular hyperplasia (FNH) in Tc-99m phytate scintigraphy. We reviewed all patients who underwent Tc-99m phytate hepatic scintigraphy between 2008 and 2012 in Kaohsiung Medical University Hospital, Kaohsiung, Taiwan. Cases with FNH were diagnosed on the basis of pathology or at least one or more prior imaging with a periodic clinical follow-up. All patients received a standard protocol of dynamic flow study and planar and Tc-99m phytate single-photon emission computed tomography (E. CAM; Siemens). The correlation of variable nodular radioactivity with parameters such as tumor size and localization was analyzed. In total, 15 lesions of 14 patients in the clinic were diagnosed as FNH. The tumor size was approximately 2.9-7.4 cm (mean size 4.6 cm). Four lesions were larger than 5 cm. The major anatomic distribution was in the right hepatic lobe (10 lesions), particularly in the superior segments (7 lesions). Tc-99m phytate single-photon emission computed tomography imaging for determining the functional features of Kupffer cells included cool/cold (8 lesions), isoradioactive/warm (6 lesions), and hot (1 lesion) patterns of uptake. We did not observe any statistically significant correlation between variable nodular radioactivity and tumor size (p=0.68) or localization (p=0.04). Herein, we demonstrate the variable uptake feature of FNH in Tc-99m phytate scintigraphy. In small FNH tumors (< 5 cm), increased or equal uptake still provided specificity for the differential diagnosis of hepatic solid tumors. Copyright © 2015. Published by Elsevier Taiwan.

ChronQC: a quality control monitoring system for clinical next generation sequencing.

PubMed

Tawari, Nilesh R; Seow, Justine Jia Wen; Perumal, Dharuman; Ow, Jack L; Ang, Shimin; Devasia, Arun George; Ng, Pauline C

2018-05-15

ChronQC is a quality control (QC) tracking system for clinical implementation of next-generation sequencing (NGS). ChronQC generates time series plots for various QC metrics to allow comparison of current runs to historical runs. ChronQC has multiple features for tracking QC data including Westgard rules for clinical validity, laboratory-defined thresholds and historical observations within a specified time period. Users can record their notes and corrective actions directly onto the plots for long-term recordkeeping. ChronQC facilitates regular monitoring of clinical NGS to enable adherence to high quality clinical standards. ChronQC is freely available on GitHub (https://github.com/nilesh-tawari/ChronQC), Docker (https://hub.docker.com/r/nileshtawari/chronqc/) and the Python Package Index. ChronQC is implemented in Python and runs on all common operating systems (Windows, Linux and Mac OS X). tawari.nilesh@gmail.com or pauline.c.ng@gmail.com. Supplementary data are available at Bioinformatics online.

Generation of an annotated reference standard for vaccine adverse event reports.

PubMed

Foster, Matthew; Pandey, Abhishek; Kreimeyer, Kory; Botsis, Taxiarchis

2018-07-05

As part of a collaborative project between the US Food and Drug Administration (FDA) and the Centers for Disease Control and Prevention for the development of a web-based natural language processing (NLP) workbench, we created a corpus of 1000 Vaccine Adverse Event Reporting System (VAERS) reports annotated for 36,726 clinical features, 13,365 temporal features, and 22,395 clinical-temporal links. This paper describes the final corpus, as well as the methodology used to create it, so that clinical NLP researchers outside FDA can evaluate the utility of the corpus to aid their own work. The creation of this standard went through four phases: pre-training, pre-production, production-clinical feature annotation, and production-temporal annotation. The pre-production phase used a double annotation followed by adjudication strategy to refine and finalize the annotation model while the production phases followed a single annotation strategy to maximize the number of reports in the corpus. An analysis of 30 reports randomly selected as part of a quality control assessment yielded accuracies of 0.97, 0.96, and 0.83 for clinical features, temporal features, and clinical-temporal associations, respectively and speaks to the quality of the corpus. Copyright © 2018 Elsevier Ltd. All rights reserved.

Severe Craniofacial Involvement due to Amniotic Band Sequence.

PubMed

Becerra-Solano, Luis Eduardo; Castañeda-Cisneros, Gema; Corona-Rivera, Jorge Roman; Díaz-Rodríguez, Manuel; Figuera, Luis Eduardo; López-Muñoz, Eunice; Nastasi-Catanese, José Antonio; Toscano-Flores, José Jesús; Ramírez-Dueñas, María de Lourdes; García-Ortíz, José Elias

2018-02-01

Disruptive amniotic band sequence (DABS) is a sporadic, non-familial disorder with unclear etiology. Diagnosis is based on clinical features because there is currently no reliable laboratory diagnostic tests. We describe six cases of DABS with severe craniofacial deformations, three with and three without classical constrictive limb deformation. The craniofacial deformities were delimited by peripheral sharply demarcated scarring. When a sharply demarcated linear disruptive craniofacial lesion is observed, DABS should be considered despite the absence of constrictive limb scarring.

Terson syndrome and leukemia: a case report

PubMed Central

Lorenzi, Umberto; Buschini, Elisa; Fea, Antonio; Machetta, Federica; Grignolo, Federico Maria

2014-01-01

Background Terson syndrome is defined as intraocular hemorrhage associated with intracranial bleeding. This syndrome can occur in the event of intracranial hemorrhage or elevated intracranial pressure. To our knowledge, it has never been associated with chronic myeloid leukemia. A 45-year-old woman suffering from chronic myeloid leukemia was referred to our clinic with Terson syndrome after intracranial bleeding. We followed this patient for a year, performing visual acuity assessment, fundus examination, color retinography, and A-scan and B-scan ultrasonography. At presentation, her best-corrected visual acuity on the right was 20/63 and on the left was 20/320. In the right eye, retinoscopy showed blurring of the optic margins surrounded by retinal and preretinal hemorrhages, preretinal fibrosis of the optic disc along the vascular arcades, and perivascular retinal infiltrates. In the left eye, the optic disc was surrounded by retinal and preretinal hemorrhages, and massive fibrosis with hard exudates and severe preretinal hemorrhage were observed at the posterior pole. Roth spots and many circular hemorrhages were noted at the periphery of the retina. A-scan and B-scan ultrasonography did not show intraocular leukemic infiltration. The clinical picture remained stable over the following 12 months. In this patient, we observed the ophthalmoscopic features of chronic myeloid leukemia, but also coexistence of features typical of Terson syndrome. To our knowledge, no similar cases have been reported previously. PMID:24729684

CDKL5 alterations lead to early epileptic encephalopathy in both genders.

PubMed

Liang, Jao-Shwann; Shimojima, Keiko; Takayama, Rumiko; Natsume, Jun; Shichiji, Minobu; Hirasawa, Kyoko; Imai, Kaoru; Okanishi, Tohru; Mizuno, Seiji; Okumura, Akihisa; Sugawara, Midori; Ito, Tomoshiro; Ikeda, Hiroko; Takahashi, Yukitoshi; Oguni, Hirokazu; Imai, Katsumi; Osawa, Makiko; Yamamoto, Toshiyuki

2011-10-01

Genetic mutations of the cyclin-dependent kinase-like 5 gene (CDKL5) have been reported in patients with epileptic encephalopathy, which is characterized by intractable seizures and severe-to-profound developmental delay. We investigated the clinical relevance of CDKL5 alterations in both genders. A total of 125 patients with epileptic encephalopathy were examined for genomic copy number aberrations, and 119 patients with no such aberrations were further examined for CDKL5 mutations. Five patients with Rett syndrome, who did not show methyl CpG-binding protein 2 gene (MECP2) mutations, were also examined for CDKL5 mutations. One male and three female patients showed submicroscopic deletions including CDKL5, and two male and six female patients showed CDKL5 nucleotide alterations. Development of early onset seizure was a characteristic clinical feature for the patients with CDKL5 alterations in both genders despite polymorphous seizure types, including myoclonic seizures, tonic seizures, and spasms. Severe developmental delays and mild frontal lobe atrophies revealed by brain magnetic resonance imaging (MRI) were observed in almost all patients, and there was no gender difference in phenotypic features. We observed that 5% of the male patients and 14% of the female patients with epileptic encephalopathy had CDKL5 alterations. These findings indicate that alterations in CDKL5 are associated with early epileptic encephalopathy in both female and male patients. Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.

Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature.

PubMed

Geneviève, D; Le Merrer, M; Feingold, J; Munnich, A; Maroteaux, P; Cormier-Daire, V

2008-04-15

Metatropic dysplasia (MD-OMIM: 156530 and 250600) is a rare chondrodysplasia characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis, first described in 1893. Up until now, 81 other patients have been reported. The phenotypic variability of MD has led to a classification based on radiological anomalies dividing into three different types: a lethal autosomal recessive form, an autosomal recessive non-lethal form and a non-lethal autosomal dominant form with less severe radiographs manifestations and a better clinical outcome. Here, we report on clinical and radiological features of 19 novel MD patients. We describe new radiological features, including precocious calcification of hyoid and cricoid cartilage, irregular and squared-off calcaneal bones and severe hypoplasia of the anterior portion of first cervical vertebrae. In addition, the observation of an overlap between the autosomal recessive non-lethal form and the non-lethal autosomal dominant form, the rarity of sibship recurrences and the observation of vertical transmissions of MD in the literature argue in favor of an autosomal dominant mode of inheritance for all MD types. This hypothesis is reinforced by the use of the statistical single ascertainment method that rejects the hypothesis of an autosomal recessive mode of inheritance responsible for MD. Therefore, we propose that recurrence in sibs is due to gonadal mosaicism. Copyright 2008 Wiley-Liss, Inc.

Vascular tumors of the iris in 45 patients: the 2009 Helen Keller Lecture.

PubMed

Shields, Jerry A; Bianciotto, Carlos; Kligman, Brad E; Shields, Carol L

2010-09-01

To report on a series of vascular tumors of the iris. Noncomparative case series. A retrospective medical record review of all patients with an iris vascular tumor was performed to identify the clinical features and develop a simple classification of these lesions. Included were demographics, clinical features, systemic associations, complications, management, and histopathology. There were 54 eyes in 45 patients with an iris vascular tumor. These were categorized as racemose hemangioma (41 eyes: 29 simple and 12 complex), cavernous hemangioma (3 eyes: 2 localized and 1 systemic), capillary hemangioma (1 eye, localized), varix (3 eyes, localized), and microhemangiomatosis (6 eyes, localized). The hemangiomas occurred in adults at a median age of 55 years, whereas capillary hemangioma occurred in infancy and cavernous hemangioma with systemic involvement occurred in a child. Of the 41 eyes with iris racemose hemangioma, none showed systemic involvement. Of all 54 eyes, transient hyphema was the main complication, found at some point in 30% or more of each affected eye except for iris capillary and racemose hemangioma. Surgical resection was necessary in 1 cavernous hemangioma and 1 varix. The remainder were managed with observation. There are now well-documented examples of iris racemose hemangioma, cavernous hemangioma, capillary hemangioma, varix, and microhemangiomatosis. Transient hyphema is the main complication. Observation is usually advised. Most are solitary lesions confined to the iris and some (cavernous hemangioma and microhemangiomatosis) can have important systemic associations.

Clinical approach to Parkinson's disease: features, diagnosis, and principles of management.

PubMed

Massano, João; Bhatia, Kailash P

2012-06-01

Parkinson's disease (PD) is one of the most common neurodegenerative disorders. The condition causes a heavy burden both on those affected, as well as their families. Accurate diagnosis is critical and remains founded on clinical grounds as no specific diagnostic test is available so far. The clinical picture of PD is typical in many instances; however, features distinguishing it from other disorders should be thoroughly sought. Monogenic forms of PD also have some distinctive characteristics in many cases. This text is a roadmap to accurate diagnosis in PD, as it approaches clinical features, diagnostic methodology, and leading differential diagnoses. Therapeutic issues are also briefly discussed.

[Granulomatous lobular mastitis: a clinicopathologic study of 68 cases].

PubMed

Cheng, Juan; Du, Yu-tang; Ding, Hua-ye

2010-10-01

To study the clinical and pathologic features of granulomatous lobular mastitis (GLM). Sixty-eight cases of GLM were retrieved from the archival file. The clinical data and histologic features were retrospectively reviewed. Sixty-eight patients presented with breast mass. Ulceration in overlying breast skin was seen in 9 cases. Most of the patients had history of breast feeding. None of them had evidence of specific infections involving the breast. The clinical and radiologic features mimicked malignancy. Histologically, GLM was characterized by the presence of non-necrotizing granulomas, usually admixed with neutrophils and associated with benign ductolobular units. The ductolobular architecture was still preserved. The duration of follow up ranged from 6 to 36 months. Four patients suffered from disease recurrence. GLM shows clinical and radiologic features reminiscent of breast cancer. Correct diagnosis requires histologic examination of the biopsy specimens.

Dementia in the movies: the clinical picture.

PubMed

Gerritsen, Debby L; Kuin, Yolande; Nijboer, Jessika

2014-01-01

Visual media influence the general public's perceptions and attitudes regarding people with mental conditions. This qualitative study investigates the depiction accuracy of dementia's clinical features in motion pictures. Using the search terms 'dementia', 'Alzheimer's disease' and 'senility' movies with release dates between January 2000 and March 2012 were sought on the Internet Movie Database. Based on four selection criteria 23 movies were included. Independently, three researchers watched all movies, scored symptoms, capacities, and behaviors. Scores were discussed and refined during consensus meetings, resulting in a taxonomy of clinical features. Various features are found, most often cognitive symptoms. Behavioral features are also shown - retiring behavior more than agitation - and various emotions, but physical symptoms are rarely depicted. Capacities are infrequently presented and are unrealistic in several of the movies. The clinical picture of dementia portrayed in fictional movies is mild and may be misleading.

Radiogenomics analysis identifies correlations of digital mammography with clinical molecular signatures in breast cancer.

PubMed

Tamez-Peña, Jose-Gerardo; Rodriguez-Rojas, Juan-Andrés; Gomez-Rueda, Hugo; Celaya-Padilla, Jose-Maria; Rivera-Prieto, Roxana-Alicia; Palacios-Corona, Rebeca; Garza-Montemayor, Margarita; Cardona-Huerta, Servando; Treviño, Victor

2018-01-01

In breast cancer, well-known gene expression subtypes have been related to a specific clinical outcome. However, their impact on the breast tissue phenotype has been poorly studied. Here, we investigate the association of imaging data of tumors to gene expression signatures from 71 patients with breast cancer that underwent pre-treatment digital mammograms and tumor biopsies. From digital mammograms, a semi-automated radiogenomics analysis generated 1,078 features describing the shape, signal distribution, and texture of tumors along their contralateral image used as control. From tumor biopsy, we estimated the OncotypeDX and PAM50 recurrence scores using gene expression microarrays. Then, we used multivariate analysis under stringent cross-validation to train models predicting recurrence scores. Few univariate features reached Spearman correlation coefficients above 0.4. Nevertheless, multivariate analysis yielded significantly correlated models for both signatures (correlation of OncotypeDX = 0.49 ± 0.07 and PAM50 = 0.32 ± 0.10 in stringent cross-validation and OncotypeDX = 0.83 and PAM50 = 0.78 for a unique model). Equivalent models trained from the unaffected contralateral breast were not correlated suggesting that the image signatures were tumor-specific and that overfitting was not a considerable issue. We also noted that models were improved by combining clinical information (triple negative status and progesterone receptor). The models used mostly wavelets and fractal features suggesting their importance to capture tumor information. Our results suggest that molecular-based recurrence risk and breast cancer subtypes have observable radiographic phenotypes. To our knowledge, this is the first study associating mammographic information to gene expression recurrence signatures.

Healthcare-associated Pneumonia: Clinical Features and Retrospective Analysis Over 10 Years

PubMed Central

Qi, Fei; Zhang, Guo-Xin; She, Dan-Yang; Liang, Zhi-Xin; Wang, Ren-Tao; Yang, Zhen; Chen, Liang-An; Cui, Jun-Chang

2015-01-01

Background: Healthcare-associated pneumonia (HCAP) is associated with drug-resistant pathogens and high mortality, and there is no clear evidence that this is due to inappropriate antibiotic therapy. This study was to elucidate the clinical features, pathogens, therapy, and outcomes of HCAP, and to clarify the risk factors for drug-resistant pathogens and prognosis. Methods: Retrospective observational study among hospitalized patients with HCAP over 10 years. The primary outcome was 30-day all-cause hospital mortality after admission. Demographics (age, gender, clinical features, and comorbidities), dates of admission, discharge and/or death, hospitalization costs, microbiological results, chest imaging studies, and CURB-65 were analyzed. Antibiotics, admission to Intensive Care Unit (ICU), mechanical ventilation, and pneumonia prognosis were recorded. Patients were dichotomized based on CURB-65 (low- vs. high-risk). Results: Among 612 patients (mean age of 70.7 years), 88.4% had at least one comorbidity. Commonly detected pathogens were Acinetobacter baumannii, Pseudomonas aeruginosa, and coagulase-negative staphylococci. Initial monotherapy with β-lactam antibiotics was the most common initial therapy (50%). Mean age, length of stay, hospitalization expenses, ICU admission, mechanical ventilation use, malignancies, and detection rate for P. aeruginosa, and Staphylococcus aureus were higher in the high-risk group compared with the low-risk group. CURB-65 ≥3, malignancies, and mechanical ventilation were associated with an increased mortality. Logistic regression analysis showed that cerebrovascular diseases and being bedridden were independent risk factors for HCAP. Conclusion: Initial treatment of HCAP with broad-spectrum antibiotics could be an appropriate approach. CURB-65 ≥3, malignancies, and mechanical ventilation may result in an increased mortality. PMID:26481734

The performance implications of pharmacy information system at the university teaching hospitals of Shiraz, Iran: Cluster approach

PubMed Central

Bayati, Saeede; Bastani, Peivand; Sagheb, Zahra Mahmoodzade; Jamalabadi, Sara; Samadbeik, Mahnaz

2017-01-01

Pharmacy information system (PIS) is becoming vital in assisting pharmacists to do their responsibilities. The aim of this study was to identify the current PIS implications in teaching hospitals affiliated with Shiraz University of Medical Science. This cross-sectional study was conducted in teaching hospitals affiliated with Shiraz University of Medical Science over the year 2016. Data were collected by observing the PIS as well as interviewing its users based on the researcher-made checklist. The checklist was prepared based on reviewing the Persian and English literature and its content validity was approved by the experts. To determine the reliability of the checklist, inter-rater reliability was used. Data were analyzed using SPSS16, and hospitals were clustered using SK-means method. In this study, the least conformity to the standards was shown in smart clinical features (4.54%), pharmaceutical companies' relationship (32.6%), and optimization of drug therapy (34.6%). In contrast, the highest conformity to the standards was shown in reporting capabilities (77.3%) and entry information and input (70.4%). Medication stock checking and optimization of drug therapy were effective features that have made a distinction between hospitals and lead to 95% variance between clusters. Based on the results, the current PIS design pays less attention to clinical features. Besides, clinical information for pharmacists and outside organization relationship were not provided by the current system. Thus, emphasis should be placed on the implementation of corrective actions to eliminate the current system's deficiencies. PMID:29184843

ALS-Plus Syndrome: Non-Pyramidal Features in a Large ALS Cohort

PubMed Central

McCluskey, Leo; Vandriel, Shannon; Elman, Lauren; Van Deerlin, Vivianna M.; Powers, John; Boller, Ashley; Wood, Elisabeth McCarty; Woo, John; McMillan, Corey T.; Rascovsky, Katya; Grossman, Murray

2014-01-01

Objective Autopsy studies show widespread pathology in amyotrophic lateral sclerosis (ALS), but clinical surveys of multisystem disease in ALS are rare. We investigated ALS-Plus syndrome, an understudied group of patients with clinical features extending beyond pyramidal and neuromuscular systems with or without cognitive/behavioral deficits. Methods In a large, consecutively-ascertained cohort of 550 patients with ALS, we documented atypical clinical manifestations. Genetic screening for C9orf72 hexanucleotide expansions was performed in 343 patients, and SOD1, TARDBP, and VCP were tested in the subgroup of patients with a family history of ALS. Gray matter and white matter imaging was available in a subgroup of 30 patients. Results Seventy-five (13.6%) patients were identified with ALS-Plus syndrome. We found disorders of ocular motility, cerebellar, extrapyramidal and autonomic functioning. Relative to those without ALS-Plus, cognitive impairment (8.0% vs 2.9%, p=0.029), bulbar-onset (49.3% vs 23.2%, p<0.001), and pathogenic mutations (20.0% vs 8.4%, p=0.015) were more than twice as common in ALS-Plus. Survival was significantly shorter in ALS-Plus (29.66 months vs 42.50 months, p=0.02), regardless of bulbar-onset or mutation status. Imaging revealed significantly greater cerebellar and cerebral disease in ALS-Plus compared to those without ALS-Plus. Conclusions ALS-Plus syndrome is not uncommon, and the presence of these atypical features is consistent with neuropathological observations that ALS is a multisystem disorder. ALS-Plus syndrome is associated with increased risk for poor survival and the presence of a pathogenic mutation. PMID:25086858

Diabetes insipidus in pediatric germinomas of the suprasellar region: characteristic features and significance of the pituitary bright spot.

PubMed

Kilday, John-Paul; Laughlin, Suzanne; Urbach, Stacey; Bouffet, Eric; Bartels, Ute

2015-01-01

The pituitary bright spot is acknowledged to indicate functional integrity of the posterior pituitary gland, whilst its absence supports a diagnosis of central diabetes insipidus (DI). This feature was evaluated, together with the incidence and clinical characteristics of DI in children with suprasellar/neurohypophyseal germinomas. We performed a review of all suprasellar (SS) or bifocal (BF) germinoma pediatric patients treated in Toronto since 2000. Demographics, symptomatology, treatment outcome and imaging were evaluated. Nineteen patients fulfilled inclusion criteria (10 SS, 9 BF; median age 12.5 years (6.2-16.8 years)). All remained alive at 6.4 years median follow-up (1.2-13.7 years) after receiving chemotherapy and radiotherapy (13 focal/ventricular, four whole brain, two neuraxis), with only one progression. All had symptoms of DI at presentation with a symptom interval above one year in eight cases (42 %). Desmopressin was commenced and maintained in 16 patients (84 %). The pituitary bright spot was lost in most diagnostic interpretable cases, but was appreciated in three patients (18 %) who had normal serum sodium values compared to 'absent' cases (p = 0.013). For two such cases, spots remained visible until last follow-up (range 0.4-3.3 years), with one still receiving desmopressin. No case of bright spot recovery was observed following therapy. Protracted symptom intervals for germinoma-induced central DI may reflect poor clinical awareness. Explanations for persistence of the pituitary bright spot in symptomatic patients remain elusive. Desmopressin seldom reverses the clinical features of germinoma-induced DI to allow discontinuation, nor does treatment cause bright spot recovery.

Healthcare-associated Pneumonia: Clinical Features and Retrospective Analysis Over 10 Years.

PubMed

Qi, Fei; Zhang, Guo-Xin; She, Dan-Yang; Liang, Zhi-Xin; Wang, Ren-Tao; Yang, Zhen; Chen, Liang-An; Cui, Jun-Chang

2015-10-20

Healthcare-associated pneumonia (HCAP) is associated with drug-resistant pathogens and high mortality, and there is no clear evidence that this is due to inappropriate antibiotic therapy. This study was to elucidate the clinical features, pathogens, therapy, and outcomes of HCAP, and to clarify the risk factors for drug-resistant pathogens and prognosis. Retrospective observational study among hospitalized patients with HCAP over 10 years. The primary outcome was 30-day all-cause hospital mortality after admission. Demographics (age, gender, clinical features, and comorbidities), dates of admission, discharge and/or death, hospitalization costs, microbiological results, chest imaging studies, and CURB-65 were analyzed. Antibiotics, admission to Intensive Care Unit (ICU), mechanical ventilation, and pneumonia prognosis were recorded. Patients were dichotomized based on CURB-65 (low- vs. high-risk). Among 612 patients (mean age of 70.7 years), 88.4% had at least one comorbidity. Commonly detected pathogens were Acinetobacter baumannii, Pseudomonas aeruginosa, and coagulase-negative staphylococci. Initial monotherapy with β-lactam antibiotics was the most common initial therapy (50%). Mean age, length of stay, hospitalization expenses, ICU admission, mechanical ventilation use, malignancies, and detection rate for P. aeruginosa, and Staphylococcus aureus were higher in the high-risk group compared with the low-risk group. CURB-65 ≥3, malignancies, and mechanical ventilation were associated with an increased mortality. Logistic regression analysis showed that cerebrovascular diseases and being bedridden were independent risk factors for HCAP. Initial treatment of HCAP with broad-spectrum antibiotics could be an appropriate approach. CURB-65 ≥3, malignancies, and mechanical ventilation may result in an increased mortality.

Radiogenomics analysis identifies correlations of digital mammography with clinical molecular signatures in breast cancer

PubMed Central

Tamez-Peña, Jose-Gerardo; Rodriguez-Rojas, Juan-Andrés; Gomez-Rueda, Hugo; Celaya-Padilla, Jose-Maria; Rivera-Prieto, Roxana-Alicia; Palacios-Corona, Rebeca; Garza-Montemayor, Margarita; Cardona-Huerta, Servando

2018-01-01

In breast cancer, well-known gene expression subtypes have been related to a specific clinical outcome. However, their impact on the breast tissue phenotype has been poorly studied. Here, we investigate the association of imaging data of tumors to gene expression signatures from 71 patients with breast cancer that underwent pre-treatment digital mammograms and tumor biopsies. From digital mammograms, a semi-automated radiogenomics analysis generated 1,078 features describing the shape, signal distribution, and texture of tumors along their contralateral image used as control. From tumor biopsy, we estimated the OncotypeDX and PAM50 recurrence scores using gene expression microarrays. Then, we used multivariate analysis under stringent cross-validation to train models predicting recurrence scores. Few univariate features reached Spearman correlation coefficients above 0.4. Nevertheless, multivariate analysis yielded significantly correlated models for both signatures (correlation of OncotypeDX = 0.49 ± 0.07 and PAM50 = 0.32 ± 0.10 in stringent cross-validation and OncotypeDX = 0.83 and PAM50 = 0.78 for a unique model). Equivalent models trained from the unaffected contralateral breast were not correlated suggesting that the image signatures were tumor-specific and that overfitting was not a considerable issue. We also noted that models were improved by combining clinical information (triple negative status and progesterone receptor). The models used mostly wavelets and fractal features suggesting their importance to capture tumor information. Our results suggest that molecular-based recurrence risk and breast cancer subtypes have observable radiographic phenotypes. To our knowledge, this is the first study associating mammographic information to gene expression recurrence signatures. PMID:29596496

Clinical characteristics and outcomes of placental site trophoblastic tumor: experience of single institution in Korea.

PubMed

Lee, Hye-Joo; Shin, Wonkyo; Jang, Yun Jeong; Choi, Chel Hun; Lee, Jeong-Won; Bae, Duk-Soo; Kim, Byoung-Gie

2018-05-01

Placental site trophoblastic tumor (PSTT) is the rarest form of gestational trophoblastic disease (GTD) and the optimum management is still controversial. In this study, we analyzed the clinical features, treatment, and outcomes of 6 consecutive patients with PSTT treated in our institution. The electronic medical record database of Samsung Medical Center was screened to identify patients with PSTT from 1994 to 2017. Medical records for the details of each patient's clinical features and treatment were extracted and reviewed. This study was approved Institutional Review Board of our hospital. A total of 418 cases of GTD, 6 (1.4%) patients with PSTT were identified. The median age of the patients was 31 years. The antecedent pregnancy was term in all 5 cases with available antecedent pregnancy information and the median interval from pregnancy to diagnosis of PSTT was 8 months. The median titer of serum beta human chorionic gonadotropin (β-hCG) at diagnosis was 190.9 mIU/mL. Five (83.3%) patients presented with irregular vaginal bleeding and one (16.7%) had amenorrhea. All patients had disease confined to the uterus without metastasis at diagnosis and were successfully treated by hysterectomy alone. All of them were alive without disease during the follow-up period. In this study, we observed low level serum β-hCG titer and irregular vaginal bleeding with varying interval after antecedent term pregnancy were most common presenting features of PSTT. In addition, we demonstrated hysterectomy alone was successful for the treatment of stage I disease of PSTT.

Altered cerebral blood flow velocity features in fibromyalgia patients in resting-state conditions

PubMed Central

Rodríguez, Alejandro; Tembl, José; Mesa-Gresa, Patricia; Muñoz, Miguel Ángel; Montoya, Pedro

2017-01-01

The aim of this study is to characterize in resting-state conditions the cerebral blood flow velocity (CBFV) signals of fibromyalgia patients. The anterior and middle cerebral arteries of both hemispheres from 15 women with fibromyalgia and 15 healthy women were monitored using Transcranial Doppler (TCD) during a 5-minute eyes-closed resting period. Several signal processing methods based on time, information theory, frequency and time-frequency analyses were used in order to extract different features to characterize the CBFV signals in the different vessels. Main results indicated that, in comparison with control subjects, fibromyalgia patients showed a higher complexity of the envelope CBFV and a different distribution of the power spectral density. In addition, it has been observed that complexity and spectral features show correlations with clinical pain parameters and emotional factors. The characterization features were used in a lineal model to discriminate between fibromyalgia patients and healthy controls, providing a high accuracy. These findings indicate that CBFV signals, specifically their complexity and spectral characteristics, contain information that may be relevant for the assessment of fibromyalgia patients in resting-state conditions. PMID:28700720

Altered cerebral blood flow velocity features in fibromyalgia patients in resting-state conditions.

PubMed

Rodríguez, Alejandro; Tembl, José; Mesa-Gresa, Patricia; Muñoz, Miguel Ángel; Montoya, Pedro; Rey, Beatriz

2017-01-01

The aim of this study is to characterize in resting-state conditions the cerebral blood flow velocity (CBFV) signals of fibromyalgia patients. The anterior and middle cerebral arteries of both hemispheres from 15 women with fibromyalgia and 15 healthy women were monitored using Transcranial Doppler (TCD) during a 5-minute eyes-closed resting period. Several signal processing methods based on time, information theory, frequency and time-frequency analyses were used in order to extract different features to characterize the CBFV signals in the different vessels. Main results indicated that, in comparison with control subjects, fibromyalgia patients showed a higher complexity of the envelope CBFV and a different distribution of the power spectral density. In addition, it has been observed that complexity and spectral features show correlations with clinical pain parameters and emotional factors. The characterization features were used in a lineal model to discriminate between fibromyalgia patients and healthy controls, providing a high accuracy. These findings indicate that CBFV signals, specifically their complexity and spectral characteristics, contain information that may be relevant for the assessment of fibromyalgia patients in resting-state conditions.

PERICARDIAL FEATURES OF IN-HOSPITAL RHEUMATOLOGY PATIENTS: AN OBSERVATIONAL STUDY.

PubMed

Bakalli, Aurora; Rexhepi, Mjellma; Rexhepi, Blerta; Koçinaj, Dardan

Rheumatic disorders can be associated with pericarditis, but severe forms of pericarditis are rare. The aim of this observational study was to evaluate pericardial features in patients with different rheumatic diseases. Thirty-five patients hospitalized at the Clinic of Rheumatology, University Clinical Center of Kosovo, from October 1 to October 21, 2014 were included in the study. Demographic data, history, laboratory, ECG, and echocardiography data, with special emphasis on the analysis of the pericardium, were obtained from each patient. Echocardiography was especially focused on the amount of pericardial fluid and pericardial thickness in the posterior wall of the heart. Mean patient age was 51.5 ± 13.8 years. 65.7% of the patients were women. Out of the patients that we analyzed, 88.6% had an inflammatory rheumatologic disease. 11.3% of the patients had mild symptoms, in 68.7% the symptoms were moderate, and in 20% severe. In all patients, pericardial hyperechogenicity was marked, with a mean pericardial thickness of 4.68 ± 1.66 mm. Pericardial effusion in a small amount was present in 57.1% of patients, with a mean pericardial fluid amount of 3.3 ± 1.9 mm. The severity of rheumatic disease had a positive and significant correlation with the presence of pericardial effusion (r= 0.29, p=0.04) and its amount (r= 0.28, p=0.05). The patients had not been aware of the pericardial involvement and did not have any clinical symptoms. In conclusion, in this short-term small observational study pericardial changes were a frequent finding in the rheumatology patients. In general, the pericarditis was subclinical and with small amounts of effusion. The disease activity of rheumatic disorders can be associated with pericarditis. Further studies with larger samples of patients and of longer duration are needed to further explore this issue.

The significance of trilineage myelodysplasia in de novo acute myeloblastic leukemia: clinical and laboratory features.

PubMed

Lima, C S; Vassalo, J; Lorand-Metze, I; Bechelli, A P; Souza, C A

1997-01-01

A prospective study was undertaken to elucidate the clinical and laboratory differences between de novo acute myeloid leukemia (AML) and AML with trilineage myelodysplasia (AML-TMDS). One hundred and seven patients with AML were diagnosed at the University Hospital between January 1987 and July 1992, and were followed until July 1995. TMDS was identified in 17 of them (16%). With regard to age and sex distribution no difference was found between AML patients with and without TMDS (p = 0.43, p = 0.54, respectively). The duration of symptoms at presentation in AML-TMDS was similar to those observed in de novo AML (p = 0.29). Hemoglobin values and platelet counts were similar in both groups of patients (p = 0.45, p = 0.44, respectively). However, peripheral white blood cell and neutrophil counts, as well as blast counts in AML-TMDS patients were lower than those observed in AML without TMDS patients (p < 0.001 for all of them). Bone marrow blast counts in de novo AML were higher than the values observed in AML-TMDS patients (p < 0.001). TMDS occurred predominantly in M2 and M6 FAB types, and was absent in the M3 type. Bone marrow histology showed no particular feature that could be of diagnostic relevance. The remission rates were similar in both groups of patients (p = 0.55). The same was true for the probability of disease-free survival and overall survival during the period of study (p = 0.50, p = 0.33, respectively). These results suggest that: 1) in AML-TMDS patients, leukemia transformation occurs in a more undifferentiated pluripotent stem cell, leading to a dysplastic residual hemopoiesis besides the blast proliferation; 2) the incidence of TMDS in our group of patients did not influence the clinical outcome after treatment of the disease.

Varied Rates of Implementation of Patient-Centered Medical Home Features and Residents' Perceptions of Their Importance Based on Practice Experience.

PubMed

Eiff, M Patrice; Green, Larry A; Jones, Geoff; Devlaeminck, Alex Verdieck; Waller, Elaine; Dexter, Eve; Marino, Miguel; Carney, Patricia A

2017-03-01

Little is known about how the patient-centered medical home (PCMH) is being implemented in residency practices. We describe both the trends in implementation of PCMH features and the influence that working with PCMH features has on resident attitudes toward their importance in 14 family medicine residencies associated with the P4 Project. We assessed 24 residency continuity clinics annually between 2007-2011 on presence or absence of PCMH features. Annual resident surveys (n=690) assessed perceptions of importance of PCMH features using a 4-point scale (not at all important to very important). We used generalized estimating equations logistic regression to assess trends and ordinal-response proportional odds regression models to determine if resident ratings of importance were associated with working with those features during training. Implementation of electronic health record (EHR) features increased significantly from 2007-2011, such as email communication with patients (33% to 67%), preventive services registries (23% to 64%), chronic disease registries (63% to 82%), and population-based quality assurance (46% to 79%). Team-based care was the only process of care feature to change significantly (54% to 93%). Residents with any exposure to EHR-based features had higher odds of rating the features more important compared to those with no exposure. We observed consistently lower odds of the resident rating process of care features as more important with any exposure compared to no exposure. Residencies engaged in educational transformation were more successful in implementing EHR-based PCMH features, and exposure during training appears to positively influence resident ratings of importance, while exposure to process of care features are slower to implement with less influence on importance ratings.

Quality Control Practices for Chemistry and Immunochemistry in a Cohort of 21 Large Academic Medical Centers.

PubMed

Rosenbaum, Matthew W; Flood, James G; Melanson, Stacy E F; Baumann, Nikola A; Marzinke, Mark A; Rai, Alex J; Hayden, Joshua; Wu, Alan H B; Ladror, Megan; Lifshitz, Mark S; Scott, Mitchell G; Peck-Palmer, Octavia M; Bowen, Raffick; Babic, Nikolina; Sobhani, Kimia; Giacherio, Donald; Bocsi, Gregary T; Herman, Daniel S; Wang, Ping; Toffaletti, John; Handel, Elizabeth; Kelly, Kathleen A; Albeiroti, Sami; Wang, Sihe; Zimmer, Melissa; Driver, Brandon; Yi, Xin; Wilburn, Clayton; Lewandrowski, Kent B

2018-05-29

In the United States, minimum standards for quality control (QC) are specified in federal law under the Clinical Laboratory Improvement Amendment and its revisions. Beyond meeting this required standard, laboratories have flexibility to determine their overall QC program. We surveyed chemistry and immunochemistry QC procedures at 21 clinical laboratories within leading academic medical centers to assess if standardized QC practices exist for chemistry and immunochemistry testing. We observed significant variation and unexpected similarities in practice across laboratories, including QC frequency, cutoffs, number of levels analyzed, and other features. This variation in practice indicates an opportunity exists to establish an evidence-based approach to QC that can be generalized across institutions.

Management of Patients With Histologic Transformation.

PubMed

Reddy, Nishitha M

2017-07-01

The incidence of histological transformation is up to 30% over a period of 10 years. This risk persists even beyond the initial decade of diagnosis of an indent lymphoma. In this era of emerging novel therapies, one could hope for an improved survival. There are currently no randomized trials guiding therapy for transformed lymphoma. Treatment recommendations are based on observational studies or non-randomized single arm clinical trials. To that extent, although routinely recommended and performed at transplant centers, voluminous evidence to suggest the timing or type (autologous or allogeneic) of transplant is lacking. In this article, we discuss the clinical features, treatment approach and role of stem cell transplant in transformed lymphoma. Copyright © 2017 Elsevier Inc. All rights reserved.

Kindler syndrome: a study of five Egyptian cases with evaluation of severity.

PubMed

Nofal, Eman; Assaf, Magda; Elmosalamy, Khaled

2008-07-01

Kindler syndrome (KS) is a rare genodermatosis characterized by four major features (acral blisters, photosensitivity, poikiloderma, and cutaneous atrophy) and many associated findings. The diagnosis of KS includes clinical features, ultrastructural findings, and, recently, immunostaining and genetic studies. Varying degrees of severity of the syndrome have been described. Five patients with clinical features consistent with KS were included in this study. All patients were subjected to histopathologic and ultrastructural studies. Cases 1 and 2 presented with severe major features, severe mucosal involvement, and many other associated findings. Case 3 presented with severe major features, but mild and limited mucosal involvement and other associated findings. Cases 4 and 5 showed mild major features and few other findings. Histopathology revealed nonspecific poikiloderma. Marked thickening of the lamina densa and splitting of the lamina lucida were the main ultrastructural findings. KS may be classified into mild, moderate, and severe according to the severity of the major features and mucosal involvement. Because histopathologic and ultrastructural findings are not pathognomonic, clinical features remain the mainstay for the diagnosis of KS, and the need for immunostaining with kindlin antibody and genetic studies may be restricted to early cases with incomplete features.

An Optimal Mean Based Block Robust Feature Extraction Method to Identify Colorectal Cancer Genes with Integrated Data.

PubMed

Liu, Jian; Cheng, Yuhu; Wang, Xuesong; Zhang, Lin; Liu, Hui

2017-08-17

It is urgent to diagnose colorectal cancer in the early stage. Some feature genes which are important to colorectal cancer development have been identified. However, for the early stage of colorectal cancer, less is known about the identity of specific cancer genes that are associated with advanced clinical stage. In this paper, we conducted a feature extraction method named Optimal Mean based Block Robust Feature Extraction method (OMBRFE) to identify feature genes associated with advanced colorectal cancer in clinical stage by using the integrated colorectal cancer data. Firstly, based on the optimal mean and L 2,1 -norm, a novel feature extraction method called Optimal Mean based Robust Feature Extraction method (OMRFE) is proposed to identify feature genes. Then the OMBRFE method which introduces the block ideology into OMRFE method is put forward to process the colorectal cancer integrated data which includes multiple genomic data: copy number alterations, somatic mutations, methylation expression alteration, as well as gene expression changes. Experimental results demonstrate that the OMBRFE is more effective than previous methods in identifying the feature genes. Moreover, genes identified by OMBRFE are verified to be closely associated with advanced colorectal cancer in clinical stage.

Relational Network for Knowledge Discovery through Heterogeneous Biomedical and Clinical Features

PubMed Central

Chen, Huaidong; Chen, Wei; Liu, Chenglin; Zhang, Le; Su, Jing; Zhou, Xiaobo

2016-01-01

Biomedical big data, as a whole, covers numerous features, while each dataset specifically delineates part of them. “Full feature spectrum” knowledge discovery across heterogeneous data sources remains a major challenge. We developed a method called bootstrapping for unified feature association measurement (BUFAM) for pairwise association analysis, and relational dependency network (RDN) modeling for global module detection on features across breast cancer cohorts. Discovered knowledge was cross-validated using data from Wake Forest Baptist Medical Center’s electronic medical records and annotated with BioCarta signaling signatures. The clinical potential of the discovered modules was exhibited by stratifying patients for drug responses. A series of discovered associations provided new insights into breast cancer, such as the effects of patient’s cultural background on preferences for surgical procedure. We also discovered two groups of highly associated features, the HER2 and the ER modules, each of which described how phenotypes were associated with molecular signatures, diagnostic features, and clinical decisions. The discovered “ER module”, which was dominated by cancer immunity, was used as an example for patient stratification and prediction of drug responses to tamoxifen and chemotherapy. BUFAM-derived RDN modeling demonstrated unique ability to discover clinically meaningful and actionable knowledge across highly heterogeneous biomedical big data sets. PMID:27427091

Relational Network for Knowledge Discovery through Heterogeneous Biomedical and Clinical Features

NASA Astrophysics Data System (ADS)

Chen, Huaidong; Chen, Wei; Liu, Chenglin; Zhang, Le; Su, Jing; Zhou, Xiaobo

2016-07-01

Biomedical big data, as a whole, covers numerous features, while each dataset specifically delineates part of them. “Full feature spectrum” knowledge discovery across heterogeneous data sources remains a major challenge. We developed a method called bootstrapping for unified feature association measurement (BUFAM) for pairwise association analysis, and relational dependency network (RDN) modeling for global module detection on features across breast cancer cohorts. Discovered knowledge was cross-validated using data from Wake Forest Baptist Medical Center’s electronic medical records and annotated with BioCarta signaling signatures. The clinical potential of the discovered modules was exhibited by stratifying patients for drug responses. A series of discovered associations provided new insights into breast cancer, such as the effects of patient’s cultural background on preferences for surgical procedure. We also discovered two groups of highly associated features, the HER2 and the ER modules, each of which described how phenotypes were associated with molecular signatures, diagnostic features, and clinical decisions. The discovered “ER module”, which was dominated by cancer immunity, was used as an example for patient stratification and prediction of drug responses to tamoxifen and chemotherapy. BUFAM-derived RDN modeling demonstrated unique ability to discover clinically meaningful and actionable knowledge across highly heterogeneous biomedical big data sets.

Evaluation of image features and classification methods for Barrett's cancer detection using VLE imaging

NASA Astrophysics Data System (ADS)

Klomp, Sander; van der Sommen, Fons; Swager, Anne-Fré; Zinger, Svitlana; Schoon, Erik J.; Curvers, Wouter L.; Bergman, Jacques J.; de With, Peter H. N.

2017-03-01

Volumetric Laser Endomicroscopy (VLE) is a promising technique for the detection of early neoplasia in Barrett's Esophagus (BE). VLE generates hundreds of high resolution, grayscale, cross-sectional images of the esophagus. However, at present, classifying these images is a time consuming and cumbersome effort performed by an expert using a clinical prediction model. This paper explores the feasibility of using computer vision techniques to accurately predict the presence of dysplastic tissue in VLE BE images. Our contribution is threefold. First, a benchmarking is performed for widely applied machine learning techniques and feature extraction methods. Second, three new features based on the clinical detection model are proposed, having superior classification accuracy and speed, compared to earlier work. Third, we evaluate automated parameter tuning by applying simple grid search and feature selection methods. The results are evaluated on a clinically validated dataset of 30 dysplastic and 30 non-dysplastic VLE images. Optimal classification accuracy is obtained by applying a support vector machine and using our modified Haralick features and optimal image cropping, obtaining an area under the receiver operating characteristic of 0.95 compared to the clinical prediction model at 0.81. Optimal execution time is achieved using a proposed mean and median feature, which is extracted at least factor 2.5 faster than alternative features with comparable performance.

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.

PubMed

Zhou, Yaoyao; Zhang, Junfeng

2014-09-20

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Additional features include ichthyosis, central nervous system malformation, platelet anomalies, and severe failure to thrive. Diagnosis of ARC syndrome relies on clinical features, organ biopsy, and mutational analysis. However, no specific treatment currently exists for this syndrome. This is an overview of the latest knowledge regarding the genetic features and clinical manifestations of ARC syndrome. Greater awareness and understanding of this syndrome should allow more timely intervention with potential for improving long-term outcome.

Integration of basic sciences and clinical sciences in oral radiology education for dental students.

PubMed

Baghdady, Mariam T; Carnahan, Heather; Lam, Ernest W N; Woods, Nicole N

2013-06-01

Educational research suggests that cognitive processing in diagnostic radiology requires a solid foundation in the basic sciences and knowledge of the radiological changes associated with disease. Although it is generally assumed that dental students must acquire both sets of knowledge, little is known about the most effective way to teach them. Currently, the basic and clinical sciences are taught separately. This study was conducted to compare the diagnostic accuracy of students when taught basic sciences segregated or integrated with clinical features. Predoctoral dental students (n=51) were taught four confusable intrabony abnormalities using basic science descriptions integrated with the radiographic features or taught segregated from the radiographic features. The students were tested with diagnostic images, and memory tests were performed immediately after learning and one week later. On immediate and delayed testing, participants in the integrated basic science group outperformed those from the segregated group. A main effect of learning condition was found to be significant (p<0.05). The results of this study support the critical role of integrating biomedical knowledge in diagnostic radiology and shows that teaching basic sciences integrated with clinical features produces higher diagnostic accuracy in novices than teaching basic sciences segregated from clinical features.

Adrenal cortical oncocytoma mimicking pheochromocytoma.

PubMed

Kiriakopoulos, Andreas; Papaioannou, Dimitrios; Linos, Dimitrios

2011-01-01

Adrenal tumors present with clinical features and signs unique to their specific hormonal hypersecretion. However, there have been cases in which the clinical expression has been in conflict with the histologic features of the tumor. In this communication we report an unusual clinical presentation of an adrenal cortical tumor with histologic features of an oncocytoma that clinically mimicked a pheochromocytoma. A 49-year old man was referred to our Unit due to type B aortic dissection and a mass of the left adrenal gland. Computed tomography and magnetic resonance imaging confirmed the presence of aortic dissection extending from the left subclavian artery to both iliac arteries and also revealed a 6 cm tumor on the left adrenal gland. Preoperative endocrine evaluation showed a near tenfold increase of urinary vanillylmandelic acid (VMA) and metanephrine values. Transperitoneal laparoscopic adrenalectomy was successfully performed. The adrenal tumor proved to be an adrenal cortical neoplasm with histologic features of oncocytoma. Although the case of an adrenal cortical adenoma clinically mimicking a pheochromocytoma has been described in the literature, to the best of our knowledge, there has been no previous report of an adrenal cortical neoplasm with predominant features of oncocytoma.

Exploratory study of factors associated with adverse clinical features in patients presenting with non-fatal drug overdose/self-poisoning to the ambulance service.

PubMed

Gwini, Stella May; Shaw, Deborah; Iqbal, Mohammad; Spaight, Anne; Siriwardena, Aloysius Niroshan

2011-10-01

To investigate the factors associated with adverse clinical features presented by drug overdose/self-poisoning patients and the treatments provided. Historical patient records collected over 3 months from ambulance crews attending non-fatal overdoses/self-poisoning incidents were reviewed. Logistic regression was used to investigate predictors of adverse clinical features (reduced consciousness, obstructed airway, hypotension or bradycardia, hypoglycaemia) and treatment. Of 22,728 calls attended to over 3 months, 585 (rate 26/1000 calls) were classified as overdose or self-poisoning. In the 585 patients identified, paracetamol-containing drugs were most commonly involved (31.5%). At least one adverse clinical feature occurred in 103 (17.7%) patients, with higher odds in men and opiate overdose or illegal drugs. Older patients and patients with reduced consciousness were more likely to receive oxygen. The latter also had a greater chance of receiving saline. Non-fatal overdose/self-poisoning accounted for 2.6% of patients attended by an ambulance. Gender, illegal drugs or opiates were important predictors of adverse clinical features. The treatments most often provided to patients were oxygen and saline.

Clinical and electrodiagnostic characteristics of nitrous oxide-induced neuropathy in Taiwan.

PubMed

Li, Han-Tao; Chu, Chun-Che; Chang, Kuo-Hsuan; Liao, Ming-Feng; Chang, Hong-Shiu; Kuo, Hung-Chou; Lyu, Rong-Kuo

2016-10-01

Nitrous oxide-induced neuropathy is toxic neuropathy occasionally encountered in Taiwanese neurological clinics. Only several case reports described their electrodiagnostic features. We used a case-control design to investigate the detailed electrodiagnostic characteristics and possible factors relating to severe nerve injury. We retrospectively reviewed 33 patients with nitrous oxide-induced neuropathy over a 10-year period and reported their demographic data, spinal cord MRI, laboratory examinations and nerve conduction studies. 56 healthy controls' nerve conduction studies were collected for comparison analysis. We noted significant motor and sensory amplitudes reduction, conduction velocities slowing, and latencies prolongation in most tested nerves compared to the controls. Similar nerve conduction study characteristics with prominent lower limbs' motor and sensory amplitudes reduction was observed in patient groups with or without abnormal vitamin B12 and/or homocysteine levels. Among those with lower limbs' motor or sensory amplitudes reduction <20% of the lower limit of normal, higher homocysteine levels were detected. Severe impairments of the lower limbs' sensory and motor amplitudes were frequently noted in patients with nitrous oxide exposure. Nitrous oxide exposure itself is an important factor for the development of neuropathy. Our study contributes to the understanding of electrodiagnostic features underlying the nitrous oxide-induced neuropathy. Copyright © 2016 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

An Innovative Approach for The Integration of Proteomics and Metabolomics Data In Severe Septic Shock Patients Stratified for Mortality.

PubMed

Cambiaghi, Alice; Díaz, Ramón; Martinez, Julia Bauzá; Odena, Antonia; Brunelli, Laura; Caironi, Pietro; Masson, Serge; Baselli, Giuseppe; Ristagno, Giuseppe; Gattinoni, Luciano; de Oliveira, Eliandre; Pastorelli, Roberta; Ferrario, Manuela

2018-04-27

In this work, we examined plasma metabolome, proteome and clinical features in patients with severe septic shock enrolled in the multicenter ALBIOS study. The objective was to identify changes in the levels of metabolites involved in septic shock progression and to integrate this information with the variation occurring in proteins and clinical data. Mass spectrometry-based targeted metabolomics and untargeted proteomics allowed us to quantify absolute metabolites concentration and relative proteins abundance. We computed the ratio D7/D1 to take into account their variation from day 1 (D1) to day 7 (D7) after shock diagnosis. Patients were divided into two groups according to 28-day mortality. Three different elastic net logistic regression models were built: one on metabolites only, one on metabolites and proteins and one to integrate metabolomics and proteomics data with clinical parameters. Linear discriminant analysis and Partial least squares Discriminant Analysis were also implemented. All the obtained models correctly classified the observations in the testing set. By looking at the variable importance (VIP) and the selected features, the integration of metabolomics with proteomics data showed the importance of circulating lipids and coagulation cascade in septic shock progression, thus capturing a further layer of biological information complementary to metabolomics information.

[Clinical and radiological characteristics of pulmonary tuberculosis in tobacco smokers].

PubMed

Kombila, U D; Mbaye, F B R; Dia Kane, Y; Ka, W; Toure Badiane, N O

2018-01-27

Tobacco smoke alters lung defense mechanisms against infections and so increases the risk of mycobacterium tuberculosis infection. To determine the particular clinical features of tuberculosis in smokers and identify risk factors. We conducted a prospective, cross-sectional study over a period of nine months in Dakar, Senegal. The Chi-square test and multiple logistic regression were used to identify differences between smokers and non-smokers and to identify factors associated with clinical outcomes. We included 165 patients with active pulmonary tuberculosis (59 smokers versus 106 never-smokers). The average age of smokers was 43.8±12.7 versus 32.1±13.1 years (P<0.0001). Smokers were overwhelmingly male (98.3% versus 1.8%, P<0.0001). The average delay to consultation was longer among smokers (90 days [30-120] versus 60 days [30-90] ; P<0.0001). In multivariate analysis, alcohol abuse, increasing age, male sex, and an unknown retroviral status were independent risk factors for pulmonary tuberculosis. Haemoptysis was observed more frequently in smokers (49.1% versus 31.1%, P=0.017). With regards to chest X-ray features, smokers presented with more advanced, bilateral and cavitating lung lesions. Diagnostic delay and haemoptysis are important characteristics of the pulmonary tuberculosis in tobacco smokers. Copyright © 2017 SPLF. Published by Elsevier Masson SAS. All rights reserved.

Interstitial Features at Chest CT Enhance the Deleterious Effects of Emphysema in the COPDGene Cohort.

PubMed

Ash, Samuel Y; Harmouche, Rola; Ross, James C; Diaz, Alejandro A; Rahaghi, Farbod N; Sanchez-Ferrero, Gonzalo Vegas; Putman, Rachel K; Hunninghake, Gary M; Onieva, Jorge Onieva; Martinez, Fernando J; Choi, Augustine M; Bowler, Russell P; Lynch, David A; Hatabu, Hiroto; Bhatt, Surya P; Dransfield, Mark T; Wells, J Michael; Rosas, Ivan O; San Jose Estepar, Raul; Washko, George R

2018-06-05

Purpose To determine if interstitial features at chest CT enhance the effect of emphysema on clinical disease severity in smokers without clinical pulmonary fibrosis. Materials and Methods In this retrospective cohort study, an objective CT analysis tool was used to measure interstitial features (reticular changes, honeycombing, centrilobular nodules, linear scar, nodular changes, subpleural lines, and ground-glass opacities) and emphysema in 8266 participants in a study of chronic obstructive pulmonary disease (COPD) called COPDGene (recruited between October 2006 and January 2011). Additive differences in patients with emphysema with interstitial features and in those without interstitial features were analyzed by using t tests, multivariable linear regression, and Kaplan-Meier analysis. Multivariable linear and Cox regression were used to determine if interstitial features modified the effect of continuously measured emphysema on clinical measures of disease severity and mortality. Results Compared with individuals with emphysema alone, those with emphysema and interstitial features had a higher percentage predicted forced expiratory volume in 1 second (absolute difference, 6.4%; P < .001), a lower percentage predicted diffusing capacity of lung for carbon monoxide (DLCO) (absolute difference, 7.4%; P = .034), a 0.019 higher right ventricular-to-left ventricular (RVLV) volume ratio (P = .029), a 43.2-m shorter 6-minute walk distance (6MWD) (P < .001), a 5.9-point higher St George's Respiratory Questionnaire (SGRQ) score (P < .001), and 82% higher mortality (P < .001). In addition, interstitial features modified the effect of emphysema on percentage predicted DLCO, RVLV volume ratio, 6WMD, SGRQ score, and mortality (P for interaction < .05 for all). Conclusion In smokers, the combined presence of interstitial features and emphysema was associated with worse clinical disease severity and higher mortality than was emphysema alone. In addition, interstitial features enhanced the deleterious effects of emphysema on clinical disease severity and mortality. © RSNA, 2018 Online supplemental material is available for this article.

Epidemiology and Clinical Features of Patients with Visceral Leishmaniasis Treated by an MSF Clinic in Bakool Region, Somalia, 2004–2006

PubMed Central

Raguenaud, Marie-Eve; Jansson, Anna; Vanlerberghe, Veerle; Van der Auwera, Geert; Deborggraeve, Stijn; Dujardin, Jean-Claude; Orfanos, Giannos; Reid, Tony; Boelaert, Marleen

2007-01-01

Background There are few reports describing the epidemiology of visceral leishmaniasis (VL) in Somalia. Over the years 2002 to 2005, a yearly average of 140 patients were reported from the Huddur centre in Bakool region, whereas in 2006, this number rose to 1002 patients. Given the limited amount of information on VL and the opportunity to compare features with the studies done in 2000 in this part of Somalia, we describe the epidemiologic and clinical features of patients who presented to the Huddur treatment centre of Bakool region, Somalia, using data routinely collected over a five-year observation period (2002–2006). Methodology Methods used included the analysis of routine data on VL cases treated in the Huddur treatment centre, a retrospective study of records of patients admitted between 2004 and 2006, community leaders interviews, and analysis of blood specimens taken for parasite species identification in Antwerp Institute of Tropical Medicine. Principal Findings A total of 1671 VL patients were admitted to the Huddur centre from January 2002 until December 2006. Nearly all patients presented spontaneously to the health centre. Since 2002, the average patient load was stable, with an average of 140 admissions per year. By the end of 2005, the number of admissions dramatically increased to reach a 7-fold increase in 2006. The genotype of L. donovani identified in 2006 was similar to the one reported in 2002. 82% of total patients treated for VL originated from two districts of Bakool region, Huddur and Tijelow districts. Clinical recovery rate was 93.2% and case fatality rate 3.9%. Conclusions After four years of low but constant VL case findings, a major increase in VL was observed over a 16-month period in the Huddur VL centre. The profile of the patients was pediatric and mortality relatively low. Decentralized treatment centers, targeted active screening, and community sensitization will help decrease morbidity and mortality from VL in this endemic area. The true magnitude of VL in Somalia remains unknown. Further documentation to better understand transmission dynamics and thus define appropriate control measures will depend on the stability of the context and safe access to the Somali population. PMID:17989791

Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders.

PubMed

Salinas-Torres, Victor M; Salinas-Torres, Rafael A

2016-06-01

Otofaciocervical syndrome (OFCS) is a rare disorder characterized by facial, ear, branchial, and musculoskeletal anomalies, along with hearing loss and mild intellectual disability. Clinically, its distinction from branchiootorenal syndrome can be difficult. To date, the coexistence of OFCS and metachondromatosis has not been reported. Here, we describe a sporadic patient with both OFCS and metachondromatosis. This novel association prompts us to do some remarks on the clinical variability of branchial-arch disorders; in fact, our observations are consistent with the highly variable expressivity of OFCS and illustrate the need of a more accurate characterization of these branchial-arch disorders. In the meantime, involvement of clavicles, scapulae and shoulders remains a distinctive feature of OFCS. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Application of dermoscopy image analysis technique in diagnosing urethral condylomata acuminata.

PubMed

Zhang, Yunjie; Jiang, Shuang; Lin, Hui; Guo, Xiaojuan; Zou, Xianbiao

2018-01-01

In this study, cases with suspected urethral condylomata acuminata were examined by dermoscopy, in order to explore an effective method for clinical. To study the application of dermoscopy image analysis technique in clinical diagnosis of urethral condylomata acuminata. A total of 220 suspected urethral condylomata acuminata were clinically diagnosed first with the naked eyes, and then by using dermoscopy image analysis technique. Afterwards, a comparative analysis was made for the two diagnostic methods. Among the 220 suspected urethral condylomata acuminata, there was a higher positive rate by dermoscopy examination than visual observation. Dermoscopy examination technique is still restricted by its inapplicability in deep urethral orifice and skin wrinkles, and concordance between different clinicians may also vary. Dermoscopy image analysis technique features a high sensitivity, quick and accurate diagnosis and is non-invasive, and we recommend its use.

A new disease: pregnancy-induced sudden sensorineural hearing loss?

PubMed

Hou, Zhi-Qiang; Wang, Qiu-Ju

2011-07-01

Sudden sensorineural hearing loss (SSNHL) may occur during pregnancy, but its prevalence is very low. It is conjectured that SSNHL is closely related to the changes in the cardiovascular system, hematological system, endocrine system, and/or some other systems due to pregnancy. These changes possibly evoke disorders of cochlear circulation or cochlear fluid homeostasis leading to SSNHL. Two SSNHL cases were observed in our clinic, and their clinical features were analyzed. In one patient the SSNHL was likely to be related to the disturbance of cochlear fluid homestasis and in the other it might be induced by some disorders in cochlear circulation. Based on their distinct clinic profiles, we defined a new disease, called "pregnancy-induced sudden sensorineural hearing loss," similar to the definition of "pregnancy-induced hypertension." This study also deepened our understanding of the etiology of SSNHL.

Corticobasal degeneration.

PubMed

Stover, N P; Watts, R L

2001-01-01

Corticobasal degeneration (CBG) is an increasingly recognized neurodegenerative disease with both motor and cognitive dysfunction. The diagnosis is probably underestimated because of the heterogeneity of clinical features, overlap with symptoms, and pathologic findings of other neurodegenerative diseases. The most characteristic initial motor symptoms are akinesia, rigidity, and apraxia. Dystonia and alien limb phenomena are frequently observed. There is often a parkinsonian picture with failure or lack of efficacy of dopaminergic medical therapy. Cognitive decline, prompting the diagnosis of dementia, may be the most common presentation of CBD that is misdiagnosed. Pathology is characterized by an asymmetric frontoparietal neuronal loss and gliosis with ballooned, achromatic cortical neurons, nigral degeneration, and variable subcortical involvement. Neuroimaging and electrophysiologic studies may help with the diagnosis but are not specific. Treatment is primarily symptomatic and minimally effective, especially after the first several years of symptoms. CBD should be considered in the differential diagnosis of patients with motor and cognitive dysfunction presenting with cortical and subcortical features. Further studies to elucidate molecular abnormalities and biological markers associated with CBD are needed to improve clinical diagnosis and treatment of patients with this disorder.

Headache Following Occipital Brain Lesion: A Case of Migraine Triggered by Occipital Spikes?

PubMed

Vollono, Catello; Mariotti, Paolo; Losurdo, Anna; Giannantoni, Nadia Mariagrazia; Mazzucchi, Edoardo; Valentini, Piero; De Rose, Paola; Della Marca, Giacomo

2015-10-01

This study describes the case of an 8-year-old boy who developed a genuine migraine after the surgical excision, from the right occipital lobe, of brain abscesses due to selective infestation of the cerebrum by Entamoeba histolytica. After the surgical treatment, the boy presented daily headaches with typical migraine features, including right-side parieto-temporal pain, nausea, vomiting, and photophobia. Electroencephalography (EEG) showed epileptiform discharges in the right occipital lobe, although he never presented seizures. Clinical and neurophysiological observations were performed, including video-EEG and polygraphic recordings. EEG showed "interictal" epileptiform discharges in the right occipital lobe. A prolonged video-EEG recording performed before, during, and after an acute attack ruled out ictal or postictal migraine. In this boy, an occipital lesion caused occipital epileptiform EEG discharges without seizures, probably prevented by the treatment. We speculate that occipital spikes, in turn, could have caused a chronic headache with features of migraine without aura. Occipital epileptiform discharges, even in absence of seizures, may trigger a genuine migraine, probably by means of either the trigeminovascular or brainstem system. © EEG and Clinical Neuroscience Society (ECNS) 2014.

Understanding the reliability of diagnostic variables in a Chinese Medicine examination.

PubMed

O'Brien, Kylie A; Abbas, Estelle; Zhang, Jiansheng; Guo, Zhi-Xin; Luo, Ruizhi; Bensoussan, Alan; Komesaroff, Paul A

2009-07-01

The question of the objectivity of the clinical examination has been raised in relation to Western and non-Western medical systems. Western practitioners are often skeptical about Traditional Chinese Medicine (TCM), on the basis that its diagnostic variables and subcategories of disease appear subjective and not repeatable. We conducted a study investigating the reproducibility of individual diagnostic observations within three of the four diagnostic methods used in a TCM examination: inspection, palpation, and auscultation. Three TCM practitioners participated in the study, and examined 45 adults who had mild-to-moderate hypercholesterolemia but were otherwise healthy. Results indicated that while there are certain features of the TCM system that are highly objective and repeatable, such as detection of the presence of shen, character of breath sounds, and pulse speed, there are other features that are subjective and unreliable, such as color under the eyes and tongue body color. This poses a challenge for TCM practitioners to improve their clinical practice and demonstrates to Western medical practitioners that TCM does in part rest on a rigorous and objective empirical basis.

Pathophysiology of Venous Thromboembolism with Respect to the Anatomical Features of the Deep Veins of Lower Limbs: A Review.

PubMed

Ro, Ayako; Kageyama, Norimasa; Mukai, Toshiji

2017-06-25

Here the pathophysiology of venous thromboembolism is reviewed with respect to the anatomical features of the deep veins of lower limbs. A thrombus is less likely to form in the thigh veins compared with that in the calf veins; however, clinical symptoms are more likely to appear in the thigh veins owing to vascular occlusion. When a patient is bedridden, thrombosis is more likely to occur in the intramuscular vein, which mainly depends on muscular pumping and the venous valve, rather than in the three crural branches, which mainly depends on the pulsation of the accompanying artery. Thrombi are prone to be generated in the soleal vein compared with those in the gastrocnemius vein because of the vein and muscle structures. A soleal vein thrombosis grows toward the proximal veins along the drainage veins. To prevent a sudden pulmonary thromboembolism-related death in bedridden patients, preventing soleal vein thrombus formation and observing the thrombus proximal propagation via the drainage veins are clinically important. When deep vein thrombosis occurs, avoiding embolization and sequela caused by the thrombus organization is necessary.

Primary pulmonary adenoid cystic carcinoma: clinicopathological analyses of 12 cases.

PubMed

Qing, Song; Zhou, Keming; Liu, Xia; Li, Xiaohong; Deng, Feiyan; Ma, Yuqing

2015-01-01

Adenoid cystic primary pulmonary carcinomas (adenoid cystic carcinomas or ACCs) are rare tumors, so we described the clinical and pathological features of these tumors and related these findings with diagnosis and prognosis of ACC, comparing our data to the existing literature. Clinical and pathological features of 12 ACC cases were observed and described. Immunohistochemical EnVision staining, fluorescent PCR detection, and FISH were used to characterize tumor samples and the literature was reviewed. Of the 12 ACC cases (7 male; average 53.1 years-of-age; range 33-78 years), the chief presentation symptom was cough, followed by expectoration, gasping, and bloody sputum. Microscopically, histopathology revealed cribriform, tubular, or solid cords. CD117 was overexpressed in glandular epithelia in 9 cases and calcitonin and thyroid transcription factor-1 (TTF-1) were overexpressed in 4 cases. One case was positive for EML4 ALK gene rearrangement. ACC is a low-grade malignant tumor with poor prognosis and high recurrence and metastases. TTF-1 expression indicates a primary tumor and CD117 expression is not significant to prognosis.

Prevalence of spinocerebellar ataxia 36 in a US population.

PubMed

Valera, Juliana M; Diaz, Tatyana; Petty, Lauren E; Quintáns, Beatriz; Yáñez, Zuleima; Boerwinkle, Eric; Muzny, Donna; Akhmedov, Dmitry; Berdeaux, Rebecca; Sobrido, Maria J; Gibbs, Richard; Lupski, James R; Geschwind, Daniel H; Perlman, Susan; Below, Jennifer E; Fogel, Brent L

2017-08-01

To assess the prevalence and clinical features of individuals affected by spinocerebellar ataxia 36 (SCA36) at a large tertiary referral center in the United States. A total of 577 patients with undiagnosed sporadic or familial cerebellar ataxia comprehensively evaluated at a tertiary referral ataxia center were molecularly evaluated for SCA36. Repeat primed PCR and fragment analysis were used to screen for the presence of a repeat expansion in the NOP56 gene. Fragment analysis of triplet repeat primed PCR products identified a GGCCTG hexanucleotide repeat expansion in intron 1 of NOP56 in 4 index cases. These 4 SCA36-positive families comprised 2 distinct ethnic groups: white (European) (2) and Asian (Japanese [1] and Vietnamese [1]). Individuals affected by SCA36 exhibited typical clinical features with gait ataxia and age at onset ranging between 35 and 50 years. Patients also suffered from ataxic or spastic limbs, altered reflexes, abnormal ocular movement, and cognitive impairment. In a US population, SCA36 was observed to be a rare disorder, accounting for 0.7% (4/577 index cases) of disease in a large undiagnosed ataxia cohort.