Psoriasis or not? Review of 51 clinically confirmed cases reveals an expanded histopathologic spectrum of psoriasis.

PubMed

Chau, Thinh; Parsi, Kory K; Ogawa, Toru; Kiuru, Maija; Konia, Thomas; Li, Chin-Shang; Fung, Maxwell A

2017-12-01

Psoriasis is usually diagnosed clinically, so only non-classic or refractory cases tend to be biopsied. Diagnostic uncertainty persists when dermatopathologists encounter features regarded as non-classic for psoriasis. Define and document classic and non-classic histologic features in skin biopsies from patients with clinically confirmed psoriasis. Minimal clinical diagnostic criteria were informally validated and applied to a consecutive series of biopsies histologically consistent with psoriasis. Clinical confirmation required 2 of the following criteria: (1) classic morphology, (2) classic distribution, (3) nail pitting, and (4) family history, with #1 and/or #2 as 1 criterion in every case RESULTS: Fifty-one biopsies from 46 patients were examined. Classic features of psoriasis included hypogranulosis (96%), club-shaped rete ridges (96%), dermal papilla capillary ectasia (90%), Munro microabscess (78%), suprapapillary plate thinning (63%), spongiform pustules (53%), and regular acanthosis (14%). Non-classic features included irregular acanthosis (84%), junctional vacuolar alteration (76%), spongiosis (76%), dermal neutrophils (69%), necrotic keratinocytes (67%), hypergranulosis (65%), neutrophilic spongiosis (61%), dermal eosinophils (49%), compact orthokeratosis (37%), papillary dermal fibrosis (35%), lichenoid infiltrate (25%), plasma cells (16%), and eosinophilic spongiosis (8%). Psoriasis exhibits a broader histopathologic spectrum. The presence of some non-classic features does not necessarily exclude the possibility of psoriasis. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Experimental Investigation on Minimum Frame Rate Requirements of High-Speed Videoendoscopy for Clinical Voice Assessment

PubMed Central

Deliyski, Dimitar D; Powell, Maria EG; Zacharias, Stephanie RC; Gerlach, Terri Treman; de Alarcon, Alessandro

2015-01-01

This study investigated the impact of high-speed videoendoscopy (HSV) frame rates on the assessment of nine clinically-relevant vocal-fold vibratory features. Fourteen adult patients with voice disorder and 14 adult normal controls were recorded using monochromatic rigid HSV at a rate of 16000 frames per second (fps) and spatial resolution of 639×639 pixels. The 16000-fps data were downsampled to 16 other rate denominations. Using paired comparisons design, nine common clinical vibratory features were visually compared between the downsampled and the original images. Three raters reported the thresholds at which: (1) a detectable difference between the two videos was first noticed, and (2) differences between the two videos would result in a change of clinical rating. Results indicated that glottal edge, mucosal wave magnitude and extent, aperiodicity, contact and loss of contact of the vocal folds were the vibratory features most sensitive to frame rate. Of these vibratory features, the glottal edge was selected for further analysis, due to its higher rating reliability, universal prevalence and consistent definition. Rates of 8000 fps were found to be free from visually-perceivable feature degradation, and for rates of 5333 fps, degradation was minimal. For rates of 4000 fps and higher, clinical assessments of glottal edge were not affected. Rates of 2000 fps changed the clinical ratings in over 16% of the samples, which could lead to inaccurate functional assessment. PMID:28989342

Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.

PubMed

Hoppman-Chaney, N; Wain, K; Seger, P R; Superneau, D W; Hodge, J C

2013-04-01

The 15q13.3 microdeletion syndrome (OMIM #612001) is characterized by a wide range of phenotypic features, including intellectual disability, seizures, autism, and psychiatric conditions. This deletion is inherited in approximately 75% of cases and has been found in mildly affected and normal parents, consistent with variable expressivity and incomplete penetrance. The common deletion is approximately 2 Mb and contains several genes; however, the gene(s) responsible for the resulting clinical features have not been clearly defined. Recently, four probands were reported with small deletions including only the CHRNA7 gene. These patients showed a wide range of phenotypic features similar to those associated with the larger 15q13.3 microdeletion. To further correlate genotype and phenotype, we queried our database of >15,000 patients tested in the Mayo Clinic Cytogenetics Laboratory from 2008 to 2011 and identified 19 individuals (10 probands and 9 family members) with isolated heterozygous CHRNA7 gene deletions. All but two infants displayed multiple features consistent with 15q13.3 microdeletion syndrome. We also identified the first de novo deletion confined to CHRNA7 as well as the second known case with homozygous deletion of CHRNA7 only. These results provide further evidence implicating CHRNA7 as the gene responsible for the clinical findings associated with 15q13.3 microdeletion. © 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd.

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

Variations in the implementation and characteristics of chiropractic services in VA.

PubMed

Lisi, Anthony J; Khorsan, Raheleh; Smith, Monica M; Mittman, Brian S

2014-12-01

In 2004, the US Department of Veterans Affairs expanded its delivery of chiropractic care by establishing onsite chiropractic clinics at select facilities across the country. Systematic information regarding the planning and implementation of these clinics and describing their features and performance is lacking. To document the planning, implementation, key features and performance of VA chiropractic clinics, and to identify variations and their underlying causes and key consequences as well as their implications for policy, practice, and research on the introduction of new clinical services into integrated health care delivery systems. Comparative case study of 7 clinics involving site visit-based and telephone-based interviews with 118 key stakeholders, including VA clinicians, clinical leaders and administrative staff, and selected external stakeholders, as well as reviews of key documents and administrative data on clinic performance and service delivery. Interviews were recorded, transcribed, and analyzed using a mixed inductive (exploratory) and deductive approach. Interview data revealed considerable variations in clinic planning and implementation processes and clinic features, as well as perceptions of clinic performance and quality. Administrative data showed high variation in patterns of clinic patient care volume over time. A facility's initial willingness to establish a chiropractic clinic, along with a higher degree of perceived evidence-based and collegial attributes of the facility chiropractor, emerged as key factors associated with higher and more consistent delivery of chiropractic services and higher perceived quality of those services.

Clinical and electrophysiological features of post-traumatic Guillain-Barré syndrome.

PubMed

Li, Xiaowen; Xiao, Jinting; Ding, Yanan; Xu, Jing; Li, Chuanxia; He, Yating; Zhai, Hui; Xie, Bingdi; Hao, Junwei

2017-07-27

Post-traumatic Guillain-Barré syndrome (GBS) is a rarely described potentially life-threatening cause of weakness. We sought to elucidate the clinical features and electrophysiological patterns of post-traumatic GBS as an aid to diagnosis. We retrospectively studied six patients diagnosed with post-traumatic GBS between 2014 and 2016 at Tianjin Medical University General Hospital, China. Clinical features, serum analysis, lumbar puncture results, electrophysiological examinations, and prognosis were assessed. All six patients had different degrees of muscular atrophy at nadir and in two, respiratory muscles were involved. Five also had damaged cranial nerves and four of these had serum antibodies against gangliosides. The most common electrophysiological findings were relatively normal distal latency, prominent reduction of compound muscle action potential amplitude, and absence of F-waves, which are consistent with an axonal form of GBS. It is often overlooked that GBS can be triggered by non-infectious factors such as trauma and its short-term prognosis is poor. Therefore, it is important to analyze the clinical and electrophysiological features of GBS after trauma. Here we have shown that electrophysiological evaluations are helpful for diagnosing post-traumatic GBS. Early diagnosis may support appropriate treatment to help prevent morbidity and improve prognosis.

SU-F-T-450: The Investigation of Radiotherapy Quality Assurance and Automatic Treatment Planning Based On the Kernel Density Estimation Method

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

Fan, J; Fan, J; Hu, W

Purpose: To develop a fast automatic algorithm based on the two dimensional kernel density estimation (2D KDE) to predict the dose-volume histogram (DVH) which can be employed for the investigation of radiotherapy quality assurance and automatic treatment planning. Methods: We propose a machine learning method that uses previous treatment plans to predict the DVH. The key to the approach is the framing of DVH in a probabilistic setting. The training consists of estimating, from the patients in the training set, the joint probability distribution of the dose and the predictive features. The joint distribution provides an estimation of the conditionalmore » probability of the dose given the values of the predictive features. For the new patient, the prediction consists of estimating the distribution of the predictive features and marginalizing the conditional probability from the training over this. Integrating the resulting probability distribution for the dose yields an estimation of the DVH. The 2D KDE is implemented to predict the joint probability distribution of the training set and the distribution of the predictive features for the new patient. Two variables, including the signed minimal distance from each OAR (organs at risk) voxel to the target boundary and its opening angle with respect to the origin of voxel coordinate, are considered as the predictive features to represent the OAR-target spatial relationship. The feasibility of our method has been demonstrated with the rectum, breast and head-and-neck cancer cases by comparing the predicted DVHs with the planned ones. Results: The consistent result has been found between these two DVHs for each cancer and the average of relative point-wise differences is about 5% within the clinical acceptable extent. Conclusion: According to the result of this study, our method can be used to predict the clinical acceptable DVH and has ability to evaluate the quality and consistency of the treatment planning.« less

Acute scrotum: is scrotal exploration the best management?

PubMed

Soccorso, G; Ninan, G K; Rajimwale, A; Nour, S

2010-09-01

Selective scrotal exploration of only those boys believed to have testicular torsion (TT), relying on history and clinical examination for diagnosis, can result in a missed or delayed diagnosis of TT. To minimise testicular loss we propose early scrotal exploration in all boys with acute scrotum (AS). To validate our approach we investigated the accuracy of clinical diagnoses of all boys with AS admitted to our unit. Clinical features and diagnoses were correlated with operative findings. A retrospective review of the records of all boys (1-16 years of age) presenting with AS between 2003 and 2007 was done. Overall, 138 boys were seen during this period. Three boys were treated conservatively. The 135 boys who underwent scrotal exploration were divided into three groups: Group A (47 boys) with a history and clinical features considered preoperatively to be consistent with torsion of appendix of testis (TAT); Group B (46 boys) whose characteristics were thought to be more consistent with TT; and finally Group C (42 boys) in whom a preoperative definitive diagnosis could not be made. The preoperative clinical features and diagnoses of the 135 boys were correlated with the operative findings. In Group A, exploration confirmed TAT in 37 (78%) boys, but in 7 (15%) boys it revealed TT. In Group B, exploration confirmed torsion in 31 (68%) boys, but 13 (28%) had TAT. In Group C, exploration revealed 39 (93%) cases of TAT and 3 (7%) cases of TT. Surgical exploration in all cases of paediatric AS offers an accurate diagnosis and treatment, thus minimising the risk of testicular loss. © Georg Thieme Verlag KG Stuttgart · New York.

Into the wardrobe of Narnia: beyond HIV infection a world of cardiovascular risk

PubMed Central

Colotto, Marco; Renzi, Alessandra; Durante, Cosimo

2012-01-01

A 38-years-old HIV-hepatitis C virus (HCV) coinfected woman presented to us for dyslipidemia. Clinical, familial and laboratory data were consistent with the diagnosis of familial heterozygous hypercholesterolaemia. History, clinical examination and laboratory findings also supported suspected acromegaly. A pituitary MRI showed a sellar macroadenoma that was removed by transphenoidal surgery without complications. MRI carried out 6 months after surgery showed almost complete removal of the adenoma. This case report describes an uncommon association of diseases, very different for aetiology—genetic for FH, infectious for HIV and HCV, caused by excessive hormone secretion for acromegaly-clinical features and therapy, but all sharing a significant impact on cardiovascular risk as a common feature. PMID:22805737

Into the wardrobe of Narnia: beyond HIV infection a world of cardiovascular risk.

PubMed

Colotto, Marco; Renzi, Alessandra; Durante, Cosimo

2012-07-17

A 38-years-old HIV-hepatitis C virus (HCV) coinfected woman presented to us for dyslipidemia. Clinical, familial and laboratory data were consistent with the diagnosis of familial heterozygous hypercholesterolaemia. History, clinical examination and laboratory findings also supported suspected acromegaly. A pituitary MRI showed a sellar macroadenoma that was removed by transphenoidal surgery without complications. MRI carried out 6 months after surgery showed almost complete removal of the adenoma. This case report describes an uncommon association of diseases, very different for aetiology--genetic for FH, infectious for HIV and HCV, caused by excessive hormone secretion for acromegaly--clinical features and therapy, but all sharing a significant impact on cardiovascular risk as a common feature.

Quantitative imaging biomarkers: a review of statistical methods for technical performance assessment.

PubMed

Raunig, David L; McShane, Lisa M; Pennello, Gene; Gatsonis, Constantine; Carson, Paul L; Voyvodic, James T; Wahl, Richard L; Kurland, Brenda F; Schwarz, Adam J; Gönen, Mithat; Zahlmann, Gudrun; Kondratovich, Marina V; O'Donnell, Kevin; Petrick, Nicholas; Cole, Patricia E; Garra, Brian; Sullivan, Daniel C

2015-02-01

Technological developments and greater rigor in the quantitative measurement of biological features in medical images have given rise to an increased interest in using quantitative imaging biomarkers to measure changes in these features. Critical to the performance of a quantitative imaging biomarker in preclinical or clinical settings are three primary metrology areas of interest: measurement linearity and bias, repeatability, and the ability to consistently reproduce equivalent results when conditions change, as would be expected in any clinical trial. Unfortunately, performance studies to date differ greatly in designs, analysis method, and metrics used to assess a quantitative imaging biomarker for clinical use. It is therefore difficult or not possible to integrate results from different studies or to use reported results to design studies. The Radiological Society of North America and the Quantitative Imaging Biomarker Alliance with technical, radiological, and statistical experts developed a set of technical performance analysis methods, metrics, and study designs that provide terminology, metrics, and methods consistent with widely accepted metrological standards. This document provides a consistent framework for the conduct and evaluation of quantitative imaging biomarker performance studies so that results from multiple studies can be compared, contrasted, or combined. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Oral lymphoepithelial cyst: A clinicopathological study of 26 cases and review of the literature.

PubMed

Sykara, Maria; Ntovas, Panagiotis; Kalogirou, Eleni-Marina; Tosios, Konstantinos I; Sklavounou, Alexandra

2017-08-01

Τo describe the clinicopathological features of 26 oral lymphoepithelial cysts (LECs) and review the literature. Twenty-six cases of oral LECs diagnosed during a 37-year period were retrospectively collected. The patients' gender and age, as well as the main clinical features of the cysts were retrieved from the requisition forms. The main microscopic features were recorded after reevaluation of all cases. Pubmed and Google Scholar electronic databases were searched with the key word "oral LEC". Inclusion criteria were the microscopic confirmation of LEC diagnosis and the report at least two of three main clinical features (gender, age and cyst's location). The 26 oral LECs represented 0.08% of 31,564 biopsies accessioned during the study period. They affected 25 patients, 14 females and 11 males with a mean age of 33.04±9.81 years. They appeared as smooth (92%) nodules, with soft (24%) or firm (76%) consistency and normal (28%), yellow to normal (20%), yellow (32%) or white (20%) hue, in the tongue (69.23%) or the floor of mouth (30.77%). They were covered by parakeratinized squamous (92.31%) or non-keratinized (7.69%) epithelium and contained desquamated epithelial cells, amorphous eosinophilic material and/or inflammatory cells (100%). The lymphoid tissue surrounded the cystic cavity partially (34.62%) or completely (65.38%), often in a follicular pattern with prominent germinal centers (53.85%). Literature review yielded 316 cases of oral LECs derived from 25 case reports, 3 case studies/retrospective studies with detailed information for each case and 7 studies with summarized data. Oral LEC is a pathologic entity with discrete clinical presentation that is, however, commonly misdiagnosed in clinical practice as other, mostly benign, entities. Its pathogenesis remains obscure, as its clinicopathologic features are consistent with both theories suggested up to date. Key words: Oral lymphoepithelial cyst; developmental cyst; non odontogenic cyst; lymphoid tissue; oral tonsil.

Oral lymphoepithelial cyst: A clinicopathological study of 26 cases and review of the literature

PubMed Central

Sykara, Maria; Ntovas, Panagiotis; Tosios, Konstantinos I.; Sklavounou, Alexandra

2017-01-01

Introduction Τo describe the clinicopathological features of 26 oral lymphoepithelial cysts (LECs) and review the literature. Material and Methods Twenty-six cases of oral LECs diagnosed during a 37-year period were retrospectively collected. The patients’ gender and age, as well as the main clinical features of the cysts were retrieved from the requisition forms. The main microscopic features were recorded after reevaluation of all cases. Pubmed and Google Scholar electronic databases were searched with the key word “oral LEC”. Inclusion criteria were the microscopic confirmation of LEC diagnosis and the report at least two of three main clinical features (gender, age and cyst’s location). Results The 26 oral LECs represented 0.08% of 31,564 biopsies accessioned during the study period. They affected 25 patients, 14 females and 11 males with a mean age of 33.04±9.81 years. They appeared as smooth (92%) nodules, with soft (24%) or firm (76%) consistency and normal (28%), yellow to normal (20%), yellow (32%) or white (20%) hue, in the tongue (69.23%) or the floor of mouth (30.77%). They were covered by parakeratinized squamous (92.31%) or non-keratinized (7.69%) epithelium and contained desquamated epithelial cells, amorphous eosinophilic material and/or inflammatory cells (100%). The lymphoid tissue surrounded the cystic cavity partially (34.62%) or completely (65.38%), often in a follicular pattern with prominent germinal centers (53.85%). Literature review yielded 316 cases of oral LECs derived from 25 case reports, 3 case studies/retrospective studies with detailed information for each case and 7 studies with summarized data. Conclusions Oral LEC is a pathologic entity with discrete clinical presentation that is, however, commonly misdiagnosed in clinical practice as other, mostly benign, entities. Its pathogenesis remains obscure, as its clinicopathologic features are consistent with both theories suggested up to date. Key words:Oral lymphoepithelial cyst; developmental cyst; non odontogenic cyst; lymphoid tissue; oral tonsil. PMID:28936296

SU-F-R-46: Predicting Distant Failure in Lung SBRT Using Multi-Objective Radiomics Model

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

Zhou, Z; Folkert, M; Iyengar, P

2016-06-15

Purpose: To predict distant failure in lung stereotactic body radiation therapy (SBRT) in early stage non-small cell lung cancer (NSCLC) by using a new multi-objective radiomics model. Methods: Currently, most available radiomics models use the overall accuracy as the objective function. However, due to data imbalance, a single object may not reflect the performance of a predictive model. Therefore, we developed a multi-objective radiomics model which considers both sensitivity and specificity as the objective functions simultaneously. The new model is used to predict distant failure in lung SBRT using 52 patients treated at our institute. Quantitative imaging features of PETmore » and CT as well as clinical parameters are utilized to build the predictive model. Image features include intensity features (9), textural features (12) and geometric features (8). Clinical parameters for each patient include demographic parameters (4), tumor characteristics (8), treatment faction schemes (4) and pretreatment medicines (6). The modelling procedure consists of two steps: extracting features from segmented tumors in PET and CT; and selecting features and training model parameters based on multi-objective. Support Vector Machine (SVM) is used as the predictive model, while a nondominated sorting-based multi-objective evolutionary computation algorithm II (NSGA-II) is used for solving the multi-objective optimization. Results: The accuracy for PET, clinical, CT, PET+clinical, PET+CT, CT+clinical, PET+CT+clinical are 71.15%, 84.62%, 84.62%, 85.54%, 82.69%, 84.62%, 86.54%, respectively. The sensitivities for the above seven combinations are 41.76%, 58.33%, 50.00%, 50.00%, 41.67%, 41.67%, 58.33%, while the specificities are 80.00%, 92.50%, 90.00%, 97.50%, 92.50%, 97.50%, 97.50%. Conclusion: A new multi-objective radiomics model for predicting distant failure in NSCLC treated with SBRT was developed. The experimental results show that the best performance can be obtained by combining all features.« less

Retrobulbar anaplastic astrocytoma in a dog: clinicopathological and ultrasonographic features.

PubMed

Martín, E; Pérez, J; Mozos, E; López, R; Molleda, J M

2000-08-01

An 11-year-old entire female German shepherd dog was presented with a progressive non-painful exophthalmos of the right eye. Ultrasonographic examination revealed a solid and well-defined orbital mass compressing the globe. Thoracic radiography revealed multiple pulmonary metastases of different sizes. The histopathological and immunohistochemical features of both the retrobulbar tumour and pulmonary metastases were consistent with an anaplastic astrocytoma. This represents an unusual case of an extracranial astrocytoma with multiple pulmonary metastases. The clinical features and the ultrasonographic, histopathological and immunohistochemical findings are described.

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.

Clustering Suicide Attempters: Impulsive-Ambivalent, Well-Planned, or Frequent.

PubMed

Lopez-Castroman, Jorge; Nogue, Erika; Guillaume, Sebastien; Picot, Marie Christine; Courtet, Philippe

2016-06-01

Attempts to predict suicidal behavior within high-risk populations have so far shown insufficient accuracy. Although several psychosocial and clinical features have been consistently associated with suicide attempts, investigations of latent structure in well-characterized populations of suicide attempters are lacking. We analyzed a sample of 1,009 hospitalized suicide attempters that were recruited between 1999 and 2012. Eleven clinically relevant items related to the characteristics of suicidal behavior were submitted to a Hierarchical Ascendant Classification. Phenotypic profiles were compared between the resulting clusters. A decisional tree was constructed to facilitate the differentiation of individuals classified within the first 2 clusters. Most individuals were included in a cluster characterized by less lethal means and planning ("impulse-ambivalent"). A second cluster featured more carefully planned attempts ("well-planned"), more alcohol or drug use before the attempt, and more precautions to avoid interruptions. Finally, a small, third cluster included individuals reporting more attempts ("frequent"), more often serious or violent attempts, and an earlier age at first attempt. Differences across clusters by demographic and clinical characteristics were also found, particularly with the third cluster whose participants had experienced high levels of childhood abuse. Cluster analysis consistently supported 3 distinct clusters of individuals with specific features in their suicidal behaviors and phenotypic profiles that could help clinicians to better focus prevention strategies. © Copyright 2016 Physicians Postgraduate Press, Inc.

Clinical and histopathologic features of dorsally located furunculosis in dogs following water immersion or exposure to grooming products: 22 cases (2005-2013).

PubMed

Cain, Christine L; Mauldin, Elizabeth A

2015-03-01

To describe clinical and histopathologic features of furunculosis in dogs following water immersion or exposure to grooming products. Retrospective case series. 22 dogs with skin lesions consistent with furunculosis and a history of water immersion or grooming prior to onset. Procedures-Information collected from the medical records of affected dogs included signalment, clinical signs, bathing or grooming procedure, diagnostic tests, treatment, and outcome. German Shepherd Dogs (4/22 [18%]) and Labrador Retrievers (4/22 [18%]) were most commonly affected. Skin lesions, particularly hemorrhagic pustules and crusts, were dorsally located in all dogs and occurred a median of 2 days (range, 1 to 7 days) following water immersion or exposure to grooming products. Twenty (91%) dogs were bathed at home or at a commercial grooming facility prior to lesion onset; 1 dog developed skin lesions following hydrotherapy on an underwater treadmill, and 1 dog developed peri-incisional skin lesions after surgery. Lethargy, signs of neck or back pain, and fever were common clinical signs. Pseudomonas aeruginosa was the most common bacterial isolate from dogs with bacteriologic culture performed on skin samples (10/14). The main histologic feature was acute follicular rupture in the superficial dermis with suppurative inflammation and dermal hemorrhage. Systemic antimicrobial treatment, particularly oral administration of fluoroquinolones, resulted in excellent clinical response in 16 of 22 (73%) dogs. Acute-onset furunculosis with characteristic clinical and histopathologic features in dogs following water immersion or exposure to grooming products was described. Knowledge of the historical and clinical features of this syndrome is essential for accurate diagnosis and appropriate treatment of affected dogs.

Fat embolism syndrome: history, definition, epidemiology.

PubMed

Talbot, Max; Schemitsch, Emil H

2006-10-01

The first clinical case of fat embolism was described over 100 years ago and significant progress has been made in the understanding of this condition since then. Gurd's criteria, consisting of major and minor clinical features, is the most commonly used diagnostic tool in the literature. Due to the lack of a gold standard for diagnosis, clinical criteria cannot be validated. It is now recognized that although fat embolization occurs in the majority of patients with long bone fractures, clinical signs and symptoms occur only in 1-10% of patients with fractures.

Multimodal predictor of neurodevelopmental outcome in newborns with hypoxic-ischaemic encephalopathy.

PubMed

Temko, Andriy; Doyle, Orla; Murray, Deirdre; Lightbody, Gordon; Boylan, Geraldine; Marnane, William

2015-08-01

Automated multimodal prediction of outcome in newborns with hypoxic-ischaemic encephalopathy is investigated in this work. Routine clinical measures and 1h EEG and ECG recordings 24h after birth were obtained from 38 newborns with different grades of HIE. Each newborn was reassessed at 24 months to establish their neurodevelopmental outcome. A set of multimodal features is extracted from the clinical, heart rate and EEG measures and is fed into a support vector machine classifier. The performance is reported with the statistically most unbiased leave-one-patient-out performance assessment routine. A subset of informative features, whose rankings are consistent across all patients, is identified. The best performance is obtained using a subset of 9 EEG, 2h and 1 clinical feature, leading to an area under the ROC curve of 87% and accuracy of 84% which compares favourably to the EEG-based clinical outcome prediction, previously reported on the same data. The work presents a promising step towards the use of multimodal data in building an objective decision support tool for clinical prediction of neurodevelopmental outcome in newborns with hypoxic-ischaemic encephalopathy. Copyright © 2015 Elsevier Ltd. All rights reserved.

Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature.

PubMed

Tender, Jennifer A F; Ferreira, Carlos R

2018-04-13

Cerebro-facio-thoracic dysplasia (CFTD) is a rare, autosomal recessive disorder characterized by facial dysmorphism, cognitive impairment and distinct skeletal anomalies and has been linked to the TMCO1 defect syndrome. To describe two siblings with features consistent with CFTD with a novel homozygous p.Arg114* pathogenic variant in the TMCO1 gene. We conducted a literature review and summarized the clinical features and laboratory results of two siblings with a novel pathogenic variant in the TMCO1 gene. Facial recognition analysis was utilized to assess the specificity of facial traits. The novel homozygous p.Arg114* pathogenic variant in the TMCO1 gene is responsible for the clinical features of CFTD in two siblings. Facial recognition analysis allows unambiguous distinction of this syndrome against controls.

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

PubMed

Nesbitt, Victoria; Pitceathly, Robert D S; Turnbull, Doug M; Taylor, Robert W; Sweeney, Mary G; Mudanohwo, Ese E; Rahman, Shamima; Hanna, Michael G; McFarland, Robert

2013-08-01

Population-based studies suggest the m.3243A>G mutation in MTTL1 is the most common disease-causing mtDNA mutation, with a carrier rate of 1 in 400 people. The m.3243A>G mutation is associated with several clinical syndromes including mitochondrial encephalopathy lactic acidosis and stroke-like episodes (MELAS), maternally inherited deafness and diabetes (MIDD) and progressive external ophthalmoplegia (PEO). Many patients affected by this mutation exhibit a clinical phenotype that does not fall within accepted criteria for the currently recognised classical mitochondrial syndromes. We have defined the phenotypic spectrum associated with the m.3243A>G mtDNA mutation in 129 patients, from 83 unrelated families, recruited to the Mitochondrial Disease Patient Cohort Study UK. 10% of patients exhibited a classical MELAS phenotype, 30% had MIDD, 6% MELAS/MIDD, 2% MELAS/chronic PEO (CPEO) and 5% MIDD/CPEO overlap syndromes. 6% had PEO and other features of mitochondrial disease not consistent with another recognised syndrome. Isolated sensorineural hearing loss occurred in 3%. 28% of patients demonstrated a panoply of clinical features, which were not consistent with any of the classical syndromes associated with the m.3243A>G mutation. 9% of individuals harbouring the mutation were clinically asymptomatic. Following this study we propose guidelines for screening and for the management of confirmed cases.

Enchondromatosis with features of dysspondyloenchondromatosis and Maffucci syndrome.

PubMed

Haga, N; Nakamura, K; Taniguchi, K; Nakamura, S

1998-01-01

We report a girl with multiple enchondromatosis, unequal leg length, short stature, congenital scoliosis, lymphangioma, and cutaneous hemangiomata. The skeletal findings were consistent with the clinical and radiological features of dysspondyloenchondromatosis except that short stature was not apparent in the neonatal period. Dysspondyloenchondromatosis is a rare disorder, one of the several types of multiple enchondromatosis with spinal abnormalities. In previous reports of this condition the association of vascular lesions usually found in Maffucci syndrome has not been described.

[A case report of giant cemento-ossifying fibroma].

PubMed

Lu, Run; Liang, Wen-Wu; Yang, Zhan; Liu, Chun-Hai; Zhao, Yue-Tao

2010-12-01

Cemento-ossifying fibroma is a rare benign tumor from periodontium, which usually occurs in mandible body and mandible ramus. It consists of collagen fibrils, fibroblast, and cementoblast. This article reported a case of giant cemento-ossifying fibroma and discussed the clinical features and treatment.

Mosaic variegated aneuploidy associated with a dysmorphic syndrome and mental handicap

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

Mehta, L.; Babu, A.; Willner, J.

1994-09-01

A 41-year-old woman was evaluated for dysmorphic features and mental handicap. Prior karyotyping had revealed 7% mosaicism for trisomy 18 in skin fibroblasts with normal blood chromosomes. Clinical features consisted of short stature, mild mental retardation, sensorineural deafness and the following dysmorphic features: short, broad neck, low posterior hairline, small palpebral fissures with iris coloboma on the right, epicanthic folds, small mouth, high palate and prominent mandible, short metacarpals and digits, particularly the fifth, with bilateral simian creases. Medical problems included non-insulin dependent diabetes mellitus, hypertension, oligomenorrhea and recent onset of diabetic neuropathy and retinal exudates. Head size and brainmore » MRI were within normal limits. Peripheral blood chromosomes revealed: 46,XX (45 cells), 46,XX,t(7;16)(q21;q21) in 1 cell, 45,X (1 cell), 48,XXXX (1 cell), 47,XX,+mar (1 cell), 48,XX,+mar,+mar (1 cell). Skin fibroblasts revealed the following karyotypes: 46,XX (25 cells), 45,X (14 cells), 47,XX,+2 (10 cells) and 47,X,+2,+7 (1 cell). Previously reported cases of mosaic variegated aneuploidy include microcephaly as a prominent feature. Chromosomes involved in the abnormality are variable. Clinical presentations in such patients are not consistent and do not appear to correlate with specific chromosome defects. This patient represents an interesting example of probable mitotic instability disrupting normal developmental processes.« less

Network Analysis of Associations between Serum Interferon Alpha Activity, Autoantibodies, and Clinical Features in Systemic Lupus Erythematosus

PubMed Central

Weckerle, Corinna E.; Franek, Beverly S.; Kelly, Jennifer A.; Kumabe, Marissa; Mikolaitis, Rachel A.; Green, Stephanie L.; Utset, Tammy O.; Jolly, Meenakshi; James, Judith A.; Harley, John B.; Niewold, Timothy B.

2010-01-01

Background Interferon-alpha (IFN-α) is a primary pathogenic factor in systemic lupus erythematosus (SLE), and high IFN-α levels may be associated with particular clinical manifestations. The prevalence of individual clinical and serologic features differs significantly by ancestry. We used multivariate and network analyses to detect associations between clinical and serologic disease manifestations and serum IFN-α activity in a large diverse SLE cohort. Methods 1089 SLE patients were studied (387 African-American, 186 Hispanic-American, and 516 European-American). Presence or absence of ACR clinical criteria for SLE, autoantibodies, and serum IFN-α activity data were analyzed in univariate and multivariate models. Iterative multivariate logistic regression was performed in each background separately to establish the network of associations between variables that were independently significant following Bonferroni correction. Results In all ancestral backgrounds, high IFN-α activity was associated with anti-Ro and anti-dsDNA antibodies (p-values 4.6×10−18 and 2.9 × 10−16 respectively). Younger age, non-European ancestry, and anti-RNP were also independently associated with increased serum IFN-α activity (p≤6.7×10−4). We found 14 unique associations between variables in network analysis, and only 7 of these associations were shared by more than one ancestral background. Associations between clinical criteria were different in different ancestral backgrounds, while autoantibody-IFN-α relationships were similar across backgrounds. IFN-α activity and autoantibodies were not associated with ACR clinical features in multivariate models. Conclusions Serum IFN-α activity was strongly and consistently associated with autoantibodies, and not independently associated with clinical features in SLE. IFN-α may be more relevant to humoral tolerance and initial pathogenesis than later clinical disease manifestations. PMID:21162028

Structures of the recurrence plot of heart rate variability signal as a tool for predicting the onset of paroxysmal atrial fibrillation.

PubMed

Mohebbi, Maryam; Ghassemian, Hassan; Asl, Babak Mohammadzadeh

2011-05-01

This paper aims to propose an effective paroxysmal atrial fibrillation (PAF) predictor which is based on the analysis of the heart rate variability (HRV) signal. Predicting the onset of PAF, based on non-invasive techniques, is clinically important and can be invaluable in order to avoid useless therapeutic interventions and to minimize the risks for the patients. This method consists of four steps: Preprocessing, feature extraction, feature reduction, and classification. In the first step, the QRS complexes are detected from the electrocardiogram (ECG) signal and then the HRV signal is extracted. In the next step, the recurrence plot (RP) of HRV signal is obtained and six features are extracted to characterize the basic patterns of the RP. These features consist of length of longest diagonal segments, average length of the diagonal lines, entropy, trapping time, length of longest vertical line, and recurrence trend. In the third step, these features are reduced to three features by the linear discriminant analysis (LDA) technique. Using LDA not only reduces the number of the input features, but also increases the classification accuracy by selecting the most discriminating features. Finally, a support vector machine-based classifier is used to classify the HRV signals. The performance of the proposed method in prediction of PAF episodes was evaluated using the Atrial Fibrillation Prediction Database which consists of both 30-minutes ECG recordings end just prior to the onset of PAF and segments at least 45 min distant from any PAF events. The obtained sensitivity, specificity, and positive predictivity were 96.55%, 100%, and 100%, respectively.

Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?

PubMed

Toriello, Helga V; Lemire, Edmond G

2002-01-01

We report on a female infant with postaxial polydactyly of the hands, preaxial polydactyly of the right foot, cleft palate, microglossia and tongue hamartomata consistent with an oral-facial-digital syndrome (OFDS). The patient also had optic nerve colobomata, a Dandy-Walker malformation, micrognathia and apneic spells. This combination of clinical features has not been previously reported. This patient either expands the clinical features of one of the existing OFDS or represents a new variant. A review of the literature highlights the difficulties in making a specific diagnosis because of the different classification systems that exist in the literature.

Clinics in diagnostic imaging (179). Severe rhabdomyolysis complicated by myonecrosis.

PubMed

Kok, Shi Xian Shawn; Tan, Tien Jin

2017-08-01

A 32-year-old man presented to the emergency department with severe right lower limb pain and swelling of three days' duration. He had multiple prior admissions for recurrent seizures and suicide attempts. Markedly elevated serum creatine kinase levels and urine myoglobinuria were consistent with a diagnosis of rhabdomyolysis. Initial magnetic resonance imaging of the right lower limb revealed diffuse muscle oedema and features of myositis in the gluteal muscles and the adductor, anterior and posterior compartments of the thigh. Follow-up magnetic resonance imaging performed 11 days later showed interval development of areas of myonecrosis and haemorrhage. The causes, clinical presentation and imaging features of rhabdomyolysis are discussed. Copyright: © Singapore Medical Association.

Pancreatic abnormalities detected by endoscopic ultrasound (EUS) in patients without clinical signs of pancreatic disease: any difference between standard and Rosemont classification scoring?

PubMed

Petrone, Maria Chiara; Terracciano, Fulvia; Perri, Francesco; Carrara, Silvia; Cavestro, Giulia Martina; Mariani, Alberto; Testoni, Pier Alberto; Arcidiacono, Paolo Giorgio

2014-01-01

The prevalence of nine EUS features of chronic pancreatitis (CP) according to the standard Wiersema classification has been investigated in 489 patients undergoing EUS for an indication not related to pancreatico-biliary disease. We showed that 82 subjects (16.8%) had at least one ductular or parenchymal abnormality. Among them, 18 (3.7% of study population) had ≥3 Wiersema criteria suggestive of CP. Recently, a new classification (Rosemont) of EUS findings consistent, suggestive or indeterminate for CP has been proposed. To stratify healthy subjects into different subgroups on the basis of EUS features of CP according to the Wiersema and Rosemont classifications and to evaluate the agreement in the diagnosis of CP with the two scoring systems. Weighted kappa statistics was computed to evaluate the strength of agreement between the two scoring systems. Univariate and multivariate analysis between any EUS abnormality and habits were performed. Eighty-two EUS videos were reviewed. Using the Wiersema classification, 18 subjects showed ≥3 EUS features suggestive of CP. The EUS diagnosis of CP in these 18 subjects was considered as consistent in only one patient, according to Rosemont classification. Weighted Kappa statistics was 0.34 showing that the strength of agreement was 'fair'. Alcohol use and smoking were identified as risk factors for having pancreatic abnormalities on EUS. The prevalence of EUS features consistent or suggestive of CP in healthy subjects according to the Rosemont classification is lower than that assessed by Wiersema criteria. In that regard the Rosemont classification seems to be more accurate in excluding clinically relevant CP. Overall agreement between the two classifications is fair. Copyright © 2014 IAP and EPC. Published by Elsevier B.V. All rights reserved.

Comparison between the clinical and laboratory features of enterovirus and West Nile virus infections.

PubMed

Middleton, Joanna; Lee, Bonita E; Fox, Julie D; Tilley, Peter A G; Robinson, Joan L

2008-07-01

The seasonality and clinical features of enterovirus (EV) infections overlap with those of West Nile virus (WNV). The purpose of this study was to determine the frequency of EV detection in patients being tested for WNV and to look for features that could be used to distinguish between infections with these two viruses. Nucleic acid amplification testing (NAT) for EV was performed on all plasma samples submitted for WNV testing in 2003 and 2004. Demographics, clinical features, and laboratory results for patients with documented EV viremia were compared with those for patients with confirmed WNV infection (as diagnosed by NAT and/or serology). NAT for EV was positive on 50 of 1,784 serum or plasma samples submitted for WNV testing (2.8%). Clinical information was compared for 45 patients with EV viremia and 214 patients with WNV infection. Patients with EV viremia were younger and less likely to have heart disease or a travel history (P<0.05). The EV viremia cases were distributed throughout the whole province while the WNV cases were predominantly in the southern part of the province. Symptoms were remarkably similar, although patients with WNV infection were more likely to have anorexia, dizziness, rash, and cranial nerve palsy (P<0.05). There are no consistent differences in the features of WNV infection and enteroviral viremia so diagnostic tests for both viruses should be performed when WNV is present in local mosquitoes.

First impressions count.

PubMed

Turner, Jonathan W; Moazzez, Rebecca; Banerjee, Avijit

2012-09-01

The art and craft of recording intra-oral anatomy successfully with dental impressions relies on the interaction of three critical factors--the 'golden triangle of impression-taking': an appreciation of the anatomical features to be recorded, the material used to take the impression and the clinical handling/operative technique applied. This paper aims to discuss the three factors and their inter-relationships, detailing clinical tips for successful, reproducible and consistent outcomes. Obtaining accurate dental impressions is the key to success in a wide range of clinical restorative procedures. This paper offers clinical advice to practitioners to plan and then take predictable, good quality impressions for their restorative cases.

Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature

PubMed Central

Tender, Jennifer A.F.; Ferreira, Carlos R.

2018-01-01

BACKGROUND: Cerebro-facio-thoracic dysplasia (CFTD) is a rare, autosomal recessive disorder characterized by facial dysmorphism, cognitive impairment and distinct skeletal anomalies and has been linked to the TMCO1 defect syndrome. OBJECTIVE: To describe two siblings with features consistent with CFTD with a novel homozygous p.Arg114* pathogenic variant in the TMCO1 gene. METHODS: We conducted a literature review and summarized the clinical features and laboratory results of two siblings with a novel pathogenic variant in the TMCO1 gene. Facial recognition analysis was utilized to assess the specificity of facial traits. CONCLUSION: The novel homozygous p.Arg114* pathogenic variant in the TMCO1 gene is responsible for the clinical features of CFTD in two siblings. Facial recognition analysis allows unambiguous distinction of this syndrome against controls. PMID:29682451

Perforating neutrophilic and granulomatous dermatitis of the newborn--a clue to immunodeficiency.

PubMed

Torrelo, Antonio; Vera, Angel; Portugués, Mar; de Prada, Inmaculada; Sanz, Andrés; Colmenero, Isabel; Zulaica, Ander; de Lucas, Raúl; Fraga, Javier; Pedraz, Javier; Fontán, Sindo; Zambrano, Antonio

2007-01-01

We report two newborns with a widespread cutaneous eruption consisting of discrete papules which evolved into vesicles, pustules, crusts, and ulcers. These healed over a 2-week period with scarring. Histopathology showed three main features--histiocytic granulomas, neutrophilic infiltration, and transepidermal elimination of degenerated collagen and debris through hair follicles. Both patients had congenital immunodeficiency. This skin condition of the newborn, with distinct clinical and histopathologic features, is a manifestation of immunodeficiency that has not been previously described.

Ductal paucity and Warkany syndrome in a patient with congenital extrahepatic portocaval shunt

PubMed Central

Sood, Vikrant; Khanna, Rajeev; Alam, Seema; Rawat, Dinesh; Bhatnagar, Shorav; Rastogi, Archana

2014-01-01

An eleven-year-old clinically dysmorphic and developmentally retarded male child presenting with complaints of 5 episodes of recurrent cholestatic jaundice since 3 years of age was evaluated. Imaging revealed features consistent with congenital extrahepatic portocaval shunt (Abernethy type 1b), multiple regenerative liver nodules and intrahepatic biliary radical dilatation. The presence of ductal paucity and trisomy 8 were confirmed on liver biopsy and karyotyping. The explanation for unusual and previously unreported features in the present case has been proposed. PMID:24868329

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.

Giant cell angiofibroma misdiagnosed as a vascular malformation and treated with absolute alcohol for one year: a case report and review of the literature.

PubMed

He, Yue; Zhang, Chenping; Liu, Guanglong; Tian, Zhuowei; Wang, Lizhen; Kalfarentzos, Evagelos

2014-04-24

To present the clinical, imaging, pathological and immunohistochemical features of giant cell angiofibroma (GCA). In this paper we report an atypical case of a GCA extending from the parotid to the parapharyngeal space. The lesion was being treated as a vascular malformation for one year prior to surgical removal. We summarize the clinical manifestations, imaging, pathological and molecular features of this rare disease.After complete surgical removal of the tumor, immunohistochemical analysis revealed strong positivity for the mesenchymal markers vimentin, CD34, CD31 and CD99 in neoplastic cells. Tumor proliferation antigen marker Ki67 was partly positive (<5% of cells). Tumor cells were negative for muscle-specific actin, epithelial membrane antigen, smooth muscle actin, cytokeratin pan, S100, desmin, glial fibrillary acidic protein, myogenin, MyoD1 and F8. The morphological and immunohistochemical profile was consistent with the diagnosis of GCA. GCA is a rare soft tissue tumor that can easily be misdiagnosed in the clinical preoperative setting. In view of the clinical, pathological and molecular features of the tumor, complete surgical removal is the current optimal treatment option, providing accurate diagnosis and low to minimal recurrence rate.

Predicting clinical outcome of neuroblastoma patients using an integrative network-based approach.

PubMed

Tranchevent, Léon-Charles; Nazarov, Petr V; Kaoma, Tony; Schmartz, Georges P; Muller, Arnaud; Kim, Sang-Yoon; Rajapakse, Jagath C; Azuaje, Francisco

2018-06-07

One of the main current challenges in computational biology is to make sense of the huge amounts of multidimensional experimental data that are being produced. For instance, large cohorts of patients are often screened using different high-throughput technologies, effectively producing multiple patient-specific molecular profiles for hundreds or thousands of patients. We propose and implement a network-based method that integrates such patient omics data into Patient Similarity Networks. Topological features derived from these networks were then used to predict relevant clinical features. As part of the 2017 CAMDA challenge, we have successfully applied this strategy to a neuroblastoma dataset, consisting of genomic and transcriptomic data. In particular, we observe that models built on our network-based approach perform at least as well as state of the art models. We furthermore explore the effectiveness of various topological features and observe, for instance, that redundant centrality metrics can be combined to build more powerful models. We demonstrate that the networks inferred from omics data contain clinically relevant information and that patient clinical outcomes can be predicted using only network topological data. This article was reviewed by Yang-Yu Liu, Tomislav Smuc and Isabel Nepomuceno.

Acne severity grading: determining essential clinical components and features using a Delphi consensus.

PubMed

Tan, Jerry; Wolfe, Barat; Weiss, Jonathan; Stein-Gold, Linda; Bikowski, Joseph; Del Rosso, James; Webster, Guy F; Lucky, Anne; Thiboutot, Diane; Wilkin, Jonathan; Leyden, James; Chren, Mary-Margaret

2012-08-01

There are multiple global scales for acne severity grading but no singular standard. Our objective was to determine the essential clinical components (content items) and features (property-related items) for an acne global grading scale for use in research and clinical practice using an iterative method, the Delphi process. Ten acne experts were invited to participate in a Web-based Delphi survey comprising 3 iterative rounds of questions. In round 1, the experts identified the following clinical components (primary acne lesions, number of lesions, extent, regional involvement, secondary lesions, and patient experiences) and features (clinimetric properties, ease of use, categorization of severity based on photographs or text, and acceptance by all stakeholders). In round 2, consensus for inclusion in the scale was established for primary lesions, number, sites, and extent; as well as clinimetric properties and ease of use. In round 3, consensus for inclusion was further established for categorization and acceptance. Patient experiences were excluded and no consensus was achieved for secondary lesions. The Delphi panel consisted solely of the United States (U.S.)-based acne experts. Using an established method for achieving consensus, experts in acne vulgaris concluded that an ideal acne global grading scale would comprise the essential clinical components of primary acne lesions, their quantity, extent, and facial and extrafacial sites of involvement; with features of clinimetric properties, categorization, efficiency, and acceptance. Copyright © 2011 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Randomized clinical trials in implant therapy: relationships among methodological, statistical, clinical, paratextual features and number of citations.

PubMed

Nieri, Michele; Clauser, Carlo; Franceschi, Debora; Pagliaro, Umberto; Saletta, Daniele; Pini-Prato, Giovanpaolo

2007-08-01

The aim of the present study was to investigate the relationships among reported methodological, statistical, clinical and paratextual variables of randomized clinical trials (RCTs) in implant therapy, and their influence on subsequent research. The material consisted of the RCTs in implant therapy published through the end of the year 2000. Methodological, statistical, clinical and paratextual features of the articles were assessed and recorded. The perceived clinical relevance was subjectively evaluated by an experienced clinician on anonymous abstracts. The impact on research was measured by the number of citations found in the Science Citation Index. A new statistical technique (Structural learning of Bayesian Networks) was used to assess the relationships among the considered variables. Descriptive statistics revealed that the reported methodology and statistics of RCTs in implant therapy were defective. Follow-up of the studies was generally short. The perceived clinical relevance appeared to be associated with the objectives of the studies and with the number of published images in the original articles. The impact on research was related to the nationality of the involved institutions and to the number of published images. RCTs in implant therapy (until 2000) show important methodological and statistical flaws and may not be appropriate for guiding clinicians in their practice. The methodological and statistical quality of the studies did not appear to affect their impact on practice and research. Bayesian Networks suggest new and unexpected relationships among the methodological, statistical, clinical and paratextual features of RCTs.

Lesion classification using clinical and visual data fusion by multiple kernel learning

NASA Astrophysics Data System (ADS)

Kisilev, Pavel; Hashoul, Sharbell; Walach, Eugene; Tzadok, Asaf

2014-03-01

To overcome operator dependency and to increase diagnosis accuracy in breast ultrasound (US), a lot of effort has been devoted to developing computer-aided diagnosis (CAD) systems for breast cancer detection and classification. Unfortunately, the efficacy of such CAD systems is limited since they rely on correct automatic lesions detection and localization, and on robustness of features computed based on the detected areas. In this paper we propose a new approach to boost the performance of a Machine Learning based CAD system, by combining visual and clinical data from patient files. We compute a set of visual features from breast ultrasound images, and construct the textual descriptor of patients by extracting relevant keywords from patients' clinical data files. We then use the Multiple Kernel Learning (MKL) framework to train SVM based classifier to discriminate between benign and malignant cases. We investigate different types of data fusion methods, namely, early, late, and intermediate (MKL-based) fusion. Our database consists of 408 patient cases, each containing US images, textual description of complaints and symptoms filled by physicians, and confirmed diagnoses. We show experimentally that the proposed MKL-based approach is superior to other classification methods. Even though the clinical data is very sparse and noisy, its MKL-based fusion with visual features yields significant improvement of the classification accuracy, as compared to the image features only based classifier.

Structures of the Recurrence Plot of Heart Rate Variability Signal as a Tool for Predicting the Onset of Paroxysmal Atrial Fibrillation

PubMed Central

Mohebbi, Maryam; Ghassemian, Hassan; Asl, Babak Mohammadzadeh

2011-01-01

This paper aims to propose an effective paroxysmal atrial fibrillation (PAF) predictor which is based on the analysis of the heart rate variability (HRV) signal. Predicting the onset of PAF, based on non-invasive techniques, is clinically important and can be invaluable in order to avoid useless therapeutic interventions and to minimize the risks for the patients. This method consists of four steps: Preprocessing, feature extraction, feature reduction, and classification. In the first step, the QRS complexes are detected from the electrocardiogram (ECG) signal and then the HRV signal is extracted. In the next step, the recurrence plot (RP) of HRV signal is obtained and six features are extracted to characterize the basic patterns of the RP. These features consist of length of longest diagonal segments, average length of the diagonal lines, entropy, trapping time, length of longest vertical line, and recurrence trend. In the third step, these features are reduced to three features by the linear discriminant analysis (LDA) technique. Using LDA not only reduces the number of the input features, but also increases the classification accuracy by selecting the most discriminating features. Finally, a support vector machine-based classifier is used to classify the HRV signals. The performance of the proposed method in prediction of PAF episodes was evaluated using the Atrial Fibrillation Prediction Database which consists of both 30-minutes ECG recordings end just prior to the onset of PAF and segments at least 45 min distant from any PAF events. The obtained sensitivity, specificity, and positive predictivity were 96.55%, 100%, and 100%, respectively. PMID:22606666

Painful legs and moving toes syndrome: a 76-patient case series.

PubMed

Hassan, Anhar; Mateen, Farrah J; Coon, Elizabeth A; Ahlskog, J Eric

2012-08-01

To better characterize the clinical features, electrophysiologic features, and treatment outcomes of painful legs and moving toes (PLMT) syndrome. Large case series. Neurology outpatient clinic at a tertiary referral center, 1983-2011. All cases of PLMT seen at our institution during an 18-year period were identified using our medical record linkage system. Key demographic, clinical, imaging, and electrophysiologic features of PLMT. Treatment outcomes and long-term follow-up are also reported. Of 76 cases identified (including 50 women [66%]), the mean age at onset was 58 years (range, 24-86 years) and at neurologic evaluation was 63 years (range, 26-88 years). Pure lower limb involvement was most common (69 patients [91%]), and 44 cases (58%) were bilateral. The most frequently diagnosed causes were peripheral neuropathy (21 cases [28%]), previous trauma (8 [11%]), and radiculopathy (7 [9%]); 32 cases (42%) were cryptogenic. Electromyography consistently showed irregular 50-millisecond to 1-second bursts of normal motor unit potential firing at 2 to 200 Hz accompanying the movements. Pain occurred first in nearly all cases and was more distressing to patients than the movements. Both components were difficult to treat, with no consistent benefit from a variety of drugs and therapeutic modalities. The syndrome persisted in most patients (83%) during the mean follow-up of 4.6 years, suggesting low likelihood of spontaneous resolution. Painful legs and moving toes syndrome is a debilitating clinical syndrome, not because of the movements but rather because of the pain, which often is refractory to treatment. Segmental lower limb involvement is most common, and neurophysiologic findings support a pathophysiologic process localizing to a central generator at the spinal cord or brainstem level.

Establishing Chinese medicine characteristic tumor response evaluation system is the key to promote internationalization of Chinese medicine oncology.

PubMed

Li, Jie; Li, Lei; Liu, Rui; Lin, Hong-sheng

2012-10-01

The features and advantages of Chinese medicine (CM) in cancer comprehensive treatment have been in the spotlight of experts both at home and abroad. However, how to evaluate the effect of CM more objectively, scientifically and systematically is still the key problem of clinical trial, and also a limitation to the development and internationalization of CM oncology. The change of tumor response evaluation system in conventional medicine is gradually consistent with the features of CM clinical effect, such as they both focus on a combination of soft endpoints (i.e. quality of life, clinical benefit, etc.) and hard endpoints (i.e. tumor remission rate, time to progress, etc.). Although experts have proposed protocols of CM tumor response evaluation criteria and come to an agreement in general, divergences still exist in the importance, quantification and CM feature of the potential endpoints. Thus, establishing a CM characteristic and wildly accepted tumor response evaluation system is the key to promote internationalization of CM oncology, and also provides a more convenient and scientific platform for CM international cooperation and communication.

A Bayesian framework for early risk prediction in traumatic brain injury

NASA Astrophysics Data System (ADS)

Chaganti, Shikha; Plassard, Andrew J.; Wilson, Laura; Smith, Miya A.; Patel, Mayur B.; Landman, Bennett A.

2016-03-01

Early detection of risk is critical in determining the course of treatment in traumatic brain injury (TBI). Computed tomography (CT) acquired at admission has shown latent prognostic value in prior studies; however, no robust clinical risk predictions have been achieved based on the imaging data in large-scale TBI analysis. The major challenge lies in the lack of consistent and complete medical records for patients, and an inherent bias associated with the limited number of patients samples with high-risk outcomes in available TBI datasets. Herein, we propose a Bayesian framework with mutual information-based forward feature selection to handle this type of data. Using multi-atlas segmentation, 154 image-based features (capturing intensity, volume and texture) were computed over 22 ROIs in 1791 CT scans. These features were combined with 14 clinical parameters and converted into risk likelihood scores using Bayes modeling. We explore the prediction power of the image features versus the clinical measures for various risk outcomes. The imaging data alone were more predictive of outcomes than the clinical data (including Marshall CT classification) for discharge disposition with an area under the curve of 0.81 vs. 0.67, but less predictive than clinical data for discharge Glasgow Coma Scale (GCS) score with an area under the curve of 0.65 vs. 0.85. However, in both cases, combining imaging and clinical data increased the combined area under the curve with 0.86 for discharge disposition and 0.88 for discharge GCS score. In conclusion, CT data have meaningful prognostic value for TBI patients beyond what is captured in clinical measures and the Marshall CT classification.

Poland syndrome with bilateral features: case description with review of the literature.

PubMed

Baban, Anwar; Torre, Michele; Bianca, Sebastiano; Buluggiu, Anna; Rossello, Mario Igor; Calevo, Maria Grazia; Valle, Maura; Ravazzolo, Roberto; Jasonni, Vincenzo; Lerone, Margherita

2009-07-01

Poland syndrome (PS) has been described as unilateral pectoral muscle deficiency variably associated with ipsilateral thoracic and upper limb anomalies. Bilateral hypoplasia/aplasia of the pectoralis muscle and upper limb defects in association with variable thoracic muscles, chest wall deformities and lower limb defects have been infrequently reported in the literature. We report on a 3(1/2)-year-old girl with clinical features consisting in bilateral asymmetric pectoral muscle defects (complete agenesis on the left side and agenesis of the sternocostal head on the right side), nipple hypoplasia, left rib defect, and right hand symbrachydactyly. In this study, we reviewed the bilateral features present in our patient and those described in the literature. Hypotheses explaining bilateral features in PS are reviewed.

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.

Benefits of Teaching Medical Students How to Communicate with Patients Having Serious Illness

PubMed Central

Ellman, Matthew S.; Fortin, Auguste H.

2012-01-01

Innovative approaches are needed to teach medical students effective and compassionate communication with seriously ill patients. We describe two such educational experiences in the Yale Medical School curriculum for third-year medical students: 1) Communicating Difficult News Workshop and 2) Ward-Based End-of-Life Care Assignment. These two programs address educational needs to teach important clinical communication and assessment skills to medical students that previously were not consistently or explicitly addressed in the curriculum. The two learning programs share a number of educational approaches driven by the learning objectives, the students’ development, and clinical realities. Common educational features include: experiential learning, the Biopsychosocial Model, patient-centered communication, integration into clinical clerkships, structured skill-based learning, self-reflection, and self-care. These shared features ― as well as some differences ― are explored in this paper in order to illustrate key issues in designing and implementing medical student education in these areas. PMID:22737055

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.

Clinical significance of owl eye morphologic features by in vivo laser confocal microscopy in patients with cytomegalovirus corneal endotheliitis.

PubMed

Kobayashi, Akira; Yokogawa, Hideaki; Higashide, Tomomi; Nitta, Koji; Sugiyama, Kazuhisa

2012-03-01

To demonstrate the clinical significance of owl eye morphologic features observed by in vivo laser confocal microscopy in patients with cytomegalovirus (CMV) corneal endotheliitis. Observational case series. participants: Six eyes of 6 patients (6 men; mean age, 73.3 years) with cytomegalovirus corneal endotheliitis diagnosed by clinical manifestations together with polymerase chain reaction from aqueous humor samples. intervention: All patients were examined by slit-lamp biomicroscopy and in vivo laser confocal microscopy. main outcome measures: Clinical manifestations were summarized by reviewing medical records. Selected confocal images of corneal layers were evaluated qualitatively for shape and degree of light reflection of abnormal cells and deposits. All patients had long histories of anterior uveitis with intraocular pressure elevation, corneal edema with keratic precipitates, and decrease of endothelial cell densities. Coin-shaped lesions were observed by slit lamp only in 1 patient at the first visit and in 2 additional patients at subsequent follow-up. In all patients, confocal microscopy demonstrated reduced subepithelial nerves, subepithelial opacity, increased reflectivity of keratocytes, highly reflective dots, and needle-shaped bodies. Owl eye morphologic features were observed consistently in all patients at the initial visit, and highly reflective round bodies were detected in 5 patients; most notably, these confocal features were reversible after resolution of endotheliitis. Owl eye morphologic features and highly reflective round bodies observed by confocal microscopy may be useful as an adjunct for the noninvasive diagnosis of cytomegalovirus corneal endotheliitis. Reversibility of these features after resolution of endotheliitis may be useful for monitoring the therapeutic effects without multiple anterior chamber tap. Copyright © 2012 Elsevier Inc. All rights reserved.

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

Variation in and risk factors for paediatric inpatient all-cause mortality in a low income setting: data from an emerging clinical information network.

PubMed

Gathara, David; Malla, Lucas; Ayieko, Philip; Karuri, Stella; Nyamai, Rachel; Irimu, Grace; van Hensbroek, Michael Boele; Allen, Elizabeth; English, Mike

2017-04-05

Hospital mortality data can inform planning for health interventions and may help optimize resource allocation if they are reliable and appropriately interpreted. However such data are often not available in low income countries including Kenya. Data from the Clinical Information Network covering 12 county hospitals' paediatric admissions aged 2-59 months for the periods September 2013 to March 2015 were used to describe mortality across differing contexts and to explore whether simple clinical characteristics used to classify severity of illness in common treatment guidelines are consistently associated with inpatient mortality. Regression models accounting for hospital identity and malaria prevalence (low or high) were used. Multiple imputation for missing data was based on a missing at random assumption with sensitivity analyses based on pattern mixture missing not at random assumptions. The overall cluster adjusted crude mortality rate across hospitals was 6 · 2% with an almost 5 fold variation across sites (95% CI 4 · 9 to 7 · 8; range 2 · 1% - 11 · 0%). Hospital identity was significantly associated with mortality. Clinical features included in guidelines for common diseases to assess severity of illness were consistently associated with mortality in multivariable analyses (AROC =0 · 86). All-cause mortality is highly variable across hospitals and associated with clinical risk factors identified in disease specific guidelines. A panel of these clinical features may provide a basic common data framework as part of improved health information systems to support evaluations of quality and outcomes of care at scale and inform health system strengthening efforts.

Applying conversation analysis to foster accurate reporting in the diet history interview.

PubMed

Tapsell, L C; Brenninger, V; Barnard, J

2000-07-01

Inaccuracy in reporting dietary intakes is a major problem in managing diet-related disease. There is no single best method of dietary assessment, but the diet history lends itself well to the clinical setting. In many diet histories data are collected orally, so analysis of interviews can provide insights into reporting behaviors. Conversation analysis is a qualitative method that describes the systematic organization of talk between people. Patterns are identified and checked for consistency within and among individual interviews. The aim of this study was to describe consistent ways of reporting diet histories and to identify conversational features of problematic reporting. Diet history interviews from 62 overweight and insulin-resistant adult volunteers (50 women, 12 men) attending an outpatient clinic and 14 healthy volunteers (7 men, 7 women) participating in an energy balance study were audiotaped and transcribed. Conversation analysis identified a remarkably consistent pattern of reporting diet histories and 3 conversational features that indicated problematic reporting: "it depends," denoting variability (least of all at breakfast); "probably," suggesting guesswork (related to portion sizes); and elaborated talk on certain foods, distinguishing sensitive topics (e.g., alcohol, chocolate, butter/margarine, take-out foods) from safe topics. These findings indicate that there are ways in which dietetics practitioners may conduct the diet history interview to foster more accurate reporting.

Cluster analysis of autoantibodies in 852 patients with systemic lupus erythematosus from a single center.

PubMed

Artim-Esen, Bahar; Çene, Erhan; Şahinkaya, Yasemin; Ertan, Semra; Pehlivan, Özlem; Kamali, Sevil; Gül, Ahmet; Öcal, Lale; Aral, Orhan; Inanç, Murat

2014-07-01

Associations between autoantibodies and clinical features have been described in systemic lupus erythematosus (SLE). Herein, we aimed to define autoantibody clusters and their clinical correlations in a large cohort of patients with SLE. We analyzed 852 patients with SLE who attended our clinic. Seven autoantibodies were selected for cluster analysis: anti-DNA, anti-Sm, anti-RNP, anticardiolipin (aCL) immunoglobulin (Ig)G or IgM, lupus anticoagulant (LAC), anti-Ro, and anti-La. Two-step clustering and Kaplan-Meier survival analyses were used. Five clusters were identified. A cluster consisted of patients with only anti-dsDNA antibodies, a cluster of anti-Sm and anti-RNP, a cluster of aCL IgG/M and LAC, and a cluster of anti-Ro and anti-La antibodies. Analysis revealed 1 more cluster that consisted of patients who did not belong to any of the clusters formed by antibodies chosen for cluster analysis. Sm/RNP cluster had significantly higher incidence of pulmonary hypertension and Raynaud phenomenon. DsDNA cluster had the highest incidence of renal involvement. In the aCL/LAC cluster, there were significantly more patients with neuropsychiatric involvement, antiphospholipid syndrome, autoimmune hemolytic anemia, and thrombocytopenia. According to the Systemic Lupus International Collaborating Clinics damage index, the highest frequency of damage was in the aCL/LAC cluster. Comparison of 10 and 20 years survival showed reduced survival in the aCL/LAC cluster. This study supports the existence of autoantibody clusters with distinct clinical features in SLE and shows that forming clinical subsets according to autoantibody clusters may be useful in predicting the outcome of the disease. Autoantibody clusters in SLE may exhibit differences according to the clinical setting or population.

A pediatric intramedullary spinal cord tumor with unusual solid-cystic and papillary features: a case report.

PubMed

Iwasaki, Takeshi; Kato, Masako; Horie, Yasushi; Kato, Shinsuke; Akatsuka, Keiichi; Watanabe, Takashi; Kuwamoto, Satoshi; Murakami, Ichiro; Hayashi, Kazuhiko

2011-12-01

Spinal cord tumors are rare in children. We report a novel case of pediatric intramedullary spinal cord tumor with unusual solid-cystic and papillary features. Clinically, the patient presented at the age of 3 years with motor deficit and urinary incontinence, and MRI demonstrated multilocular cystic lesions in the thoracic spine. Histologically the tumor consisted of solid, sheet-like components and branching papillary structures, and immunohistochemistry demonstrated positive reactivity for epithelial membrane antigen, cytokeratins (7, AE1/3, CAM5.2), E-cadherin and transthyretin, and negativity for GFAP, S-100 protein, synaptophysin and neurofilament. These histological and immunohistochemical findings appeared to be unique, and were not compatible with the features of classical ependymoma or choroid plexus papilloma. The clinical behavior, characterized by relatively rapid tumor regrowth after surgical resection and a relatively high MIB-1 labeling index, suggest that this tumor might have had moderate malignant potential. This pediatric case appears to be particularly informative with regard to the tumor biology or tumorigenesis of intramedullary spinal cord tumor with unusual solid-cystic and papillary features. © 2011 Japanese Society of Neuropathology.

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.

Osteocraniostenosis.

PubMed Central

Verloes, A; Narcy, F; Grattagliano, B; Delezoide, A L; Guibaud, P; Schaaps, J P; Le Merrer, M; Maroteaux, P

1994-01-01

We report a multiple congenital anomalies (MCA) syndrome in three unrelated fetuses consisting of extremely thin, dense, fishbone-like diaphyses, flared metaphyses, mild micromelic dwarfism, brachydactyly, facial dysmorphism, ocular malformations (microphthalmia, aniridia), cloverleaf skull deformity, and splenic hypoplasia. Histopathological investigations showed abnormalities of the metaphyseal cartilage and adjacent diaphyseal ossification, excessive modelling of the metaphyses, and, in one case, dysplasia of the epiphyseal cartilage. We review three previously reported cases. We suggest the name osteocraniostenosis to describe this radiological and clinical disorder, pinpointing its major clinical and radiological features. Images PMID:7837254

Clinical and histologic features of acute-onset erythroderma in dogs with gastrointestinal disease: 18 cases (2005-2015).

PubMed

Cain, Christine L; Bradley, Charles W; Mauldin, Elizabeth A

2017-12-15

OBJECTIVE To describe the clinical and histologic features of acute erythroderma in dogs with gastrointestinal disease. DESIGN Retrospective case series. ANIMALS 18 dogs with erythroderma and gastrointestinal disease. PROCEDURES Medical records and biopsy specimens were reviewed. Information collected from medical records included signalment, clinical signs, physical examination and diagnostic test results, treatment, and outcome. The Naranjo algorithm was used to estimate the probability of an adverse drug reaction for each dog. RESULTS All dogs had an acute onset of erythematous macules or generalized erythroderma. Histologic features of skin biopsy specimens had 3 patterns representing a progressive spectrum of inflammation. Most dogs had vomiting (n = 17) and hematochezia (10). Signs of gastrointestinal disease became evident before, after, or concurrent with the onset of skin lesions in 10, 3, and 5 dogs, respectively. Inflammatory bowel disease, pancreatitis, and adverse food reaction were diagnosed in 5, 3, and 3 dogs, respectively. The cause of the gastrointestinal signs was not identified for 8 dogs. Eight dogs had a Naranjo score consistent with a possible adverse drug reaction. Treatment of skin lesions included drug withdrawal (n = 15), antihistamines (16), and corticosteroids (14). Signs of gastrointestinal disease and skin lesions resolved at a mean of 4.6 days and 20.8 days, respectively, after onset. CONCLUSIONS AND CLINICAL RELEVANCE Results indicated acute erythroderma may be associated with > 1 gastrointestinal disease or an adverse drug reaction in some dogs. Recognition of the clinical and histologic features of this syndrome is essential for accurate diagnosis.

ISSLS PRIZE IN BIOENGINEERING SCIENCE 2017: Automation of reading of radiological features from magnetic resonance images (MRIs) of the lumbar spine without human intervention is comparable with an expert radiologist.

PubMed

Jamaludin, Amir; Lootus, Meelis; Kadir, Timor; Zisserman, Andrew; Urban, Jill; Battié, Michele C; Fairbank, Jeremy; McCall, Iain

2017-05-01

Investigation of the automation of radiological features from magnetic resonance images (MRIs) of the lumbar spine. To automate the process of grading lumbar intervertebral discs and vertebral bodies from MRIs. MR imaging is the most common imaging technique used in investigating low back pain (LBP). Various features of degradation, based on MRIs, are commonly recorded and graded, e.g., Modic change and Pfirrmann grading of intervertebral discs. Consistent scoring and grading is important for developing robust clinical systems and research. Automation facilitates this consistency and reduces the time of radiological analysis considerably and hence the expense. 12,018 intervertebral discs, from 2009 patients, were graded by a radiologist and were then used to train: (1) a system to detect and label vertebrae and discs in a given scan, and (2) a convolutional neural network (CNN) model that predicts several radiological gradings. The performance of the model, in terms of class average accuracy, was compared with the intra-observer class average accuracy of the radiologist. The detection system achieved 95.6% accuracy in terms of disc detection and labeling. The model is able to produce predictions of multiple pathological gradings that consistently matched those of the radiologist. The model identifies 'Evidence Hotspots' that are the voxels that most contribute to the degradation scores. Automation of radiological grading is now on par with human performance. The system can be beneficial in aiding clinical diagnoses in terms of objectivity of gradings and the speed of analysis. It can also draw the attention of a radiologist to regions of degradation. This objectivity and speed is an important stepping stone in the investigation of the relationship between MRIs and clinical diagnoses of back pain in large cohorts. Level 3.

Cause and Effect: Testing a Mechanism and Method for the Cognitive Integration of Basic Science.

PubMed

Kulasegaram, Kulamakan; Manzone, Julian C; Ku, Cheryl; Skye, Aimee; Wadey, Veronica; Woods, Nicole N

2015-11-01

Methods of integrating basic science with clinical knowledge are still debated in medical training. One possibility is increasing the spatial and temporal proximity of clinical content to basic science. An alternative model argues that teaching must purposefully expose relationships between the domains. The authors compared different methods of integrating basic science: causal explanations linking basic science to clinical features, presenting both domains separately but in proximity, and simply presenting clinical features First-year undergraduate health professions students were randomized to four conditions: (1) science-causal explanations (SC), (2) basic science before clinical concepts (BC), (3) clinical concepts before basic science (CB), and (4) clinical features list only (FL). Based on assigned conditions, participants were given explanations for four disorders in neurology or rheumatology followed by a memory quiz and diagnostic test consisting of 12 cases which were repeated after one week. Ninety-four participants completed the study. No difference was found on memory test performance, but on the diagnostic test, a condition by time interaction was found (F[3,88] = 3.05, P < .03, ηp = 0.10). Although all groups had similar immediate performance, the SC group had a minimal decrease in performance on delayed testing; the CB and FL groups had the greatest decreases. These results suggest that creating proximity between basic science and clinical concepts may not guarantee cognitive integration. Although cause-and-effect explanations may not be possible for all domains, making explicit and specific connections between domains will likely facilitate the benefits of integration for learners.

Giant cell angiofibroma misdiagnosed as a vascular malformation and treated with absolute alcohol for one year: a case report and review of the literature

PubMed Central

2014-01-01

Purpose To present the clinical, imaging, pathological and immunohistochemical features of giant cell angiofibroma (GCA). Case presentation In this paper we report an atypical case of a GCA extending from the parotid to the parapharyngeal space. The lesion was being treated as a vascular malformation for one year prior to surgical removal. We summarize the clinical manifestations, imaging, pathological and molecular features of this rare disease. After complete surgical removal of the tumor, immunohistochemical analysis revealed strong positivity for the mesenchymal markers vimentin, CD34, CD31 and CD99 in neoplastic cells. Tumor proliferation antigen marker Ki67 was partly positive (<5% of cells). Tumor cells were negative for muscle-specific actin, epithelial membrane antigen, smooth muscle actin, cytokeratin pan, S100, desmin, glial fibrillary acidic protein, myogenin, MyoD1 and F8. The morphological and immunohistochemical profile was consistent with the diagnosis of GCA. Conclusion GCA is a rare soft tissue tumor that can easily be misdiagnosed in the clinical preoperative setting. In view of the clinical, pathological and molecular features of the tumor, complete surgical removal is the current optimal treatment option, providing accurate diagnosis and low to minimal recurrence rate. PMID:24758544

Oncogenous osteomalacia and myopericytoma of the thoracic spine: a case report.

PubMed

Brunschweiler, Benoit; Guedj, Nathalie; Lenoir, Thibault; Faillot, Thierry; Rillardon, Ludovic; Guigui, Pierre

2009-11-01

A case report. To illustrate a rare case of oncogenous osteomalacia caused by a spinal thoracic myopericytoma. Osteomalacia related to a tumor is well known. The cause of the disorder is usually a highly vascularized, benign tumor of mesenchymal origin. Location of the tumor in the spine is very rare. Removal of the tumor is followed by resolution of osteomalacia. Diagnosis of oseomalacia was established on the presence of cardinal clinical, biologic, and radiologic features of osteomalacia. Localization of the tumor at T5 and T6 levels was obtained by magnetic resonance imaging. Surgical treatment consisted in a circumferential correction-fusion with hemivertebrectomy of T5 and T6 and tumor removal. Tumor removal was rapidly followed by disappearance of the clinical symptoms of osteomalacia, and by correction of hypophosphatemia. At 2-years follow-up, no recurrence of the tumor was detectable on imaging studies-the correction fusion remained stable. Histologically, the tumor was classified as a myopericytoma. There was no relapse of the clinical features of osteomalacia. However, secondary recurrence of the biologic markers due to an incomplete tumor removal was disclosed. Removal of the tumor was followed by healing of the clinical features of osteomalacia, demonstrating the causal connection between the myopericytoma and the osteopathy.

Comorbid Normal Pressure Hydrocephalus with Parkinsonism: A Clinical Challenge and Call for Awareness.

PubMed

Cucca, A; Biagioni, M C; Sharma, K; Golomb, J; Gilbert, R M; Di Rocco, A; Fleisher, J E

2018-01-01

Idiopathic normal pressure hydrocephalus (iNPH) is the most common cause of hydrocephalus in adults. The diagnosis may be challenging, requiring collaborative efforts between different specialists. According to the International Society for Hydrocephalus and Cerebrospinal Fluid Disorders, iNPH should be considered in the differential of any unexplained gait failure with insidious onset. Recognizing iNPH can be even more difficult in the presence of comorbid neurologic disorders. Among these, idiopathic Parkinson's disease (PD) is one of the major neurologic causes of gait dysfunction in the elderly. Both conditions have their peak prevalence between the 6th and the 7th decade. Importantly, postural instability and gait dysfunction are core clinical features in both iNPH and PD. Therefore, diagnosing iNPH where diagnostic criteria of PD have been met represents an additional clinical challenge. Here, we report a patient with parkinsonism initially consistent with PD who subsequently displayed rapidly progressive postural instability and gait dysfunction leading to the diagnosis of concomitant iNPH. In the following sections, we will review the clinical features of iNPH, as well as the overlapping and discriminating features when degenerative parkinsonism is in the differential diagnosis. Understanding and recognizing the potential for concomitant disease are critical when treating both conditions.

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p.

PubMed

Stewart, Heather; Rutherford, Nicola J; Briemberg, Hannah; Krieger, Charles; Cashman, Neil; Fabros, Marife; Baker, Matt; Fok, Alice; DeJesus-Hernandez, Mariely; Eisen, Andrew; Rademakers, Rosa; Mackenzie, Ian R A

2012-03-01

Two studies recently identified a GGGGCC hexanucleotide repeat expansion in a non-coding region of the chromosome 9 open-reading frame 72 gene (C9ORF72) as the cause of chromosome 9p-linked amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). In a cohort of 231 probands with ALS, we identified the C9ORF72 mutation in 17 familial (27.4%) and six sporadic (3.6%) cases. Patients with the mutation presented with typical motor features of ALS, although subjects with the C9ORF72 mutation had more frequent bulbar onset, compared to those without this mutation. Dementia was significantly more common in ALS patients and families with the C9ORF72 mutation and was usually early-onset FTD. There was striking clinical heterogeneity among the members of individual families with the mutation. The associated neuropathology was a combination of ALS with TDP-ir inclusions and FTLD-TDP. In addition to TDP-43-immunoreactive pathology, a consistent and specific feature of cases with the C9ORF72 mutation was the presence of ubiquitin-positive, TDP-43-negative inclusions in a variety of neuroanatomical regions, such as the cerebellar cortex. These findings support the C9ORF72 mutation as an important newly recognized cause of ALS, provide a more detailed characterization of the associated clinical and pathological features and further demonstrate the clinical and molecular overlap between ALS and FTD.

Towards a taxonomy for integrated care: a mixed-methods study

PubMed Central

Valentijn, Pim P.; Boesveld, Inge C.; van der Klauw, Denise M.; Ruwaard, Dirk; Struijs, Jeroen N.; Molema, Johanna J.W.; Bruijnzeels, Marc A.; Vrijhoef, Hubertus JM.

2015-01-01

Introduction Building integrated services in a primary care setting is considered an essential important strategy for establishing a high-quality and affordable health care system. The theoretical foundations of such integrated service models are described by the Rainbow Model of Integrated Care, which distinguishes six integration dimensions (clinical, professional, organisational, system, functional and normative integration). The aim of the present study is to refine the Rainbow Model of Integrated Care by developing a taxonomy that specifies the underlying key features of the six dimensions. Methods First, a literature review was conducted to identify features for achieving integrated service delivery. Second, a thematic analysis method was used to develop a taxonomy of key features organised into the dimensions of the Rainbow Model of Integrated Care. Finally, the appropriateness of the key features was tested in a Delphi study among Dutch experts. Results The taxonomy consists of 59 key features distributed across the six integration dimensions of the Rainbow Model of Integrated Care. Key features associated with the clinical, professional, organisational and normative dimensions were considered appropriate by the experts. Key features linked to the functional and system dimensions were considered less appropriate. Discussion This study contributes to the ongoing debate of defining the concept and typology of integrated care. This taxonomy provides a development agenda for establishing an accepted scientific framework of integrated care from an end-user, professional, managerial and policy perspective. PMID:25759607

Towards a taxonomy for integrated care: a mixed-methods study.

PubMed

Valentijn, Pim P; Boesveld, Inge C; van der Klauw, Denise M; Ruwaard, Dirk; Struijs, Jeroen N; Molema, Johanna J W; Bruijnzeels, Marc A; Vrijhoef, Hubertus Jm

2015-01-01

Building integrated services in a primary care setting is considered an essential important strategy for establishing a high-quality and affordable health care system. The theoretical foundations of such integrated service models are described by the Rainbow Model of Integrated Care, which distinguishes six integration dimensions (clinical, professional, organisational, system, functional and normative integration). The aim of the present study is to refine the Rainbow Model of Integrated Care by developing a taxonomy that specifies the underlying key features of the six dimensions. First, a literature review was conducted to identify features for achieving integrated service delivery. Second, a thematic analysis method was used to develop a taxonomy of key features organised into the dimensions of the Rainbow Model of Integrated Care. Finally, the appropriateness of the key features was tested in a Delphi study among Dutch experts. The taxonomy consists of 59 key features distributed across the six integration dimensions of the Rainbow Model of Integrated Care. Key features associated with the clinical, professional, organisational and normative dimensions were considered appropriate by the experts. Key features linked to the functional and system dimensions were considered less appropriate. This study contributes to the ongoing debate of defining the concept and typology of integrated care. This taxonomy provides a development agenda for establishing an accepted scientific framework of integrated care from an end-user, professional, managerial and policy perspective.

What do consistently high-performing in vitro fertilization programs in the U.S. do?

PubMed

Van Voorhis, Bradley J; Thomas, Mika; Surrey, Eric S; Sparks, Amy

2010-09-01

To identify common clinical and laboratory practices among consistently high-performing IVF programs. Questionnaire study of selected IVF programs. Academic and private practice IVF programs. Ten of 12 programs identified as having consistently high singleton delivery rates per cycle. None. Common clinical practices. Common clinical practices identified among these programs included testing all patients for ovarian reserve, endometrial defects, and hydrosalpinges; use of a mixed LH and FSH stimulation protocol with step-down dosing; and use of ultrasound guidance for ET. Common laboratory practices included selective use of intracytoplasmic sperm injection, group culture of embryos in microdrops, and use of blastocyst ET in selected cases. Common laboratory features included good air quality using filtration and heated stages for oocyte and embryo work. Although a number of factors were identified in this best-practices questionnaire, programs often differed in many aspects of care. However, high-performing programs cited experience of physicians, embryologists, and staff members as well as consistency of approach, attention to detail, and good communication as being vital to excellent outcomes. Copyright (c) 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

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.

Optical ensemble analysis of intraocular lens performance through a simulated clinical trial with ZEMAX.

PubMed

Zhao, Huawei

2009-01-01

A ZEMAX model was constructed to simulate a clinical trial of intraocular lenses (IOLs) based on a clinically oriented Monte Carlo ensemble analysis using postoperative ocular parameters. The purpose of this model is to test the feasibility of streamlining and optimizing both the design process and the clinical testing of IOLs. This optical ensemble analysis (OEA) is also validated. Simulated pseudophakic eyes were generated by using the tolerancing and programming features of ZEMAX optical design software. OEA methodology was verified by demonstrating that the results of clinical performance simulations were consistent with previously published clinical performance data using the same types of IOLs. From these results we conclude that the OEA method can objectively simulate the potential clinical trial performance of IOLs.

Spectrum of high-resolution computed tomography imaging in occupational lung disease

PubMed Central

Satija, Bhawna; Kumar, Sanyal; Ojha, Umesh Chandra; Gothi, Dipti

2013-01-01

Damage to the lungs caused by dusts or fumes or noxious substances inhaled by workers in certain specific occupation is known as occupational lung disease. Recognition of occupational lung disease is especially important not only for the primary worker, but also because of the implications with regard to primary and secondary disease prevention in the exposed co-workers. Although many of the disorders can be detected on chest radiography, high-resolution computed tomography (HRCT) is superior in delineating the lung architecture and depicting pathology. The characteristic radiological features suggest the correct diagnosis in some, whereas a combination of clinical features, occupational history, and radiological findings is essential in establishing the diagnosis in others. In the presence of a history of exposure and consistent clinical features, the diagnosis of even an uncommon occupational lung disease can be suggested by the characteristic described HRCT findings. In this article, we briefly review the HRCT appearance of a wide spectrum of occupational lung diseases. PMID:24604929

Spectrum of high-resolution computed tomography imaging in occupational lung disease.

PubMed

Satija, Bhawna; Kumar, Sanyal; Ojha, Umesh Chandra; Gothi, Dipti

2013-10-01

Damage to the lungs caused by dusts or fumes or noxious substances inhaled by workers in certain specific occupation is known as occupational lung disease. Recognition of occupational lung disease is especially important not only for the primary worker, but also because of the implications with regard to primary and secondary disease prevention in the exposed co-workers. Although many of the disorders can be detected on chest radiography, high-resolution computed tomography (HRCT) is superior in delineating the lung architecture and depicting pathology. The characteristic radiological features suggest the correct diagnosis in some, whereas a combination of clinical features, occupational history, and radiological findings is essential in establishing the diagnosis in others. In the presence of a history of exposure and consistent clinical features, the diagnosis of even an uncommon occupational lung disease can be suggested by the characteristic described HRCT findings. In this article, we briefly review the HRCT appearance of a wide spectrum of occupational lung diseases.

Nursing students' perceptions of learning in practice environments: a review.

PubMed

Henderson, Amanda; Cooke, Marie; Creedy, Debra K; Walker, Rachel

2012-04-01

Effective clinical learning requires integration of nursing students into ward activities, staff engagement to address individual student learning needs, and innovative teaching approaches. Assessing characteristics of practice environments can provide useful insights for development. This study identified predominant features of clinical learning environments from nursing students' perspectives across studies using the same measure in different countries over the last decade. Six studies, from three different countries, using the Clinical Leaning Environment Inventory (CLEI) were reviewed. Studies explored consistent trends about learning environment. Students rated sense of task accomplishment high. Affiliation also rated highly though was influenced by models of care. Feedback measuring whether students' individual needs and views were accommodated consistently rated lower. Across different countries students report similar perceptions about learning environments. Clinical learning environments are most effective in promoting safe practice and are inclusive of student learners, but not readily open to innovation and challenges to routine practices. Crown Copyright © 2011. Published by Elsevier Ltd. All rights reserved.

Joint Feature Extraction and Classifier Design for ECG-Based Biometric Recognition.

PubMed

Gutta, Sandeep; Cheng, Qi

2016-03-01

Traditional biometric recognition systems often utilize physiological traits such as fingerprint, face, iris, etc. Recent years have seen a growing interest in electrocardiogram (ECG)-based biometric recognition techniques, especially in the field of clinical medicine. In existing ECG-based biometric recognition methods, feature extraction and classifier design are usually performed separately. In this paper, a multitask learning approach is proposed, in which feature extraction and classifier design are carried out simultaneously. Weights are assigned to the features within the kernel of each task. We decompose the matrix consisting of all the feature weights into sparse and low-rank components. The sparse component determines the features that are relevant to identify each individual, and the low-rank component determines the common feature subspace that is relevant to identify all the subjects. A fast optimization algorithm is developed, which requires only the first-order information. The performance of the proposed approach is demonstrated through experiments using the MIT-BIH Normal Sinus Rhythm database.

Phenotypical Characteristics of Idiopathic Infantile Nystagmus with and without Mutations in "FRMD7"

ERIC Educational Resources Information Center

Thomas, Shery; Proudlock, Frank A.; Sarvananthan, Nagini; Roberts, Eryl O.; Awan, Musarat; McLean, Rebecca; Surendran, Mylvaganam; Kumar, A. S. Anil; Farooq, Shegufta J.; Degg, Chris; Gale, Richard P.; Reinecke, Robert D.; Woodruff, Geoffrey; Langmann, Andrea; Lindner, Susanne; Jain, Sunila; Tarpey, Patrick; Raymond, F. Lucy; Gottlob, Irene

2008-01-01

Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene "FRMD7" (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye…

CD5-expressing B-cell lymphomas/leukemias: relatively high frequency of CD5+ B-cell lymphomas with an overall poor prognosis in Nagasaki Japan.

PubMed

Kamihira, S; Hirakata, Y; Atogami, S; Sohda, H; Tsuruda, K; Yamada, Y; Tomonaga, M

1996-06-01

To characterize CD5+ B-cell neoplasms in Japan, where chronic lymphocytic leukemia (CLL) is rare and of different subtypes in comparison with Western countries, we collected 58 cases of CD5+ B-cell lymphomas/leukemias and analyzed their clinicopathologic features. According to the French-American-British (FAB) and standard histologic classification, the cases corresponded to small lymphocytic lymphoma (SLL, group I; n = 22, consisting of CLL, n = 10, CLL/PL, n = 3, and CLLmixed, n = 7); intermediate differentiated lymphoma/mantle cell lymphoma (IDL/MCL, group II, n = 18); and others with CD5-positive lymphomas (group III, n = 18). The CD5+ B-cell lymphomas showed morphologic and prognostic variability among the three groups. The clinical and immunophenotypic features were remarkably consistent in leukemic disease being seen in 73% of all cases, splenomegaly in 63%, and intense CD19, CD20, surface membrane immunogobulin M (SmIgM) or SmIgM and SmIgD, light-chain expression, and no CD10 expression. The median survival time of groups I, II, and III was 7.8, 3.3, and 0.8 years, respectively. These findings suggest that CD5 antigens may serve as valid markers for the prognosis and clinical features of B-cell lymphomas and that CD5+ B-cell lymphomas with an overall poor prognosis occurs at a relatively high frequency in Japan. This also suggests that a combination of immunophenotypic and morphologic features is of value for characterizing CD5+ B-cell neoplasms.

Canine Clitoral Carcinoma: A Clinical, Cytologic, Histopathologic, Immunohistochemical, and Ultrastructural Study.

PubMed

Verin, Ranieri; Cian, Francesco; Stewart, Jennifer; Binanti, Diana; MacNeill, Amy L; Piviani, Martina; Monti, Paola; Baroni, Gianna; Le Calvez, Sophie; Scase, Timothy J; Finotello, Riccardo

2018-01-01

Vaginal and vulvar tumors are uncommon in dogs. Knowledge of canine primary clitoral neoplasia is restricted to a few case reports, and only carcinomas have been reported. Cytologic and histologic features reported in the literature seem to overlap with those of canine apocrine gland anal sac adenocarcinoma (AGASA). Clinical features also recall those of canine AGASA, such as locoregional metastases and hypercalcemia of malignancy (HM). In this study, 6 cases of primary canine clitoral carcinomas (CCCs), with and without HM, were investigated by means of cytology, histopathology, electron microscopy, and immunohistochemistry for neuroendocrine markers including chromogranin A (CGA), synaptophysin (SYN), neuron-specific enolase (NSE), and S-100. In all 6 tumors, cytologic findings were consistent with malignant epithelial neoplasia of apocrine gland origin. The tumors examined were classified into 3 different histological patterns representing different degrees of differentiation: tubular, solid, and rosette type. Both CGA and SYN were mildly expressed in 2 of 6 tumors, while NSE was consistently expressed in all 6 cases. None of the tumors were S-100 positive. Transmission electron microscopy revealed electron-dense cytoplasmic granules compatible with neuroendocrine granules in all 6 cases. CCCs presented clinicopathologic features resembling AGASAs with neuroendocrine characteristics, and 2 of 6 neoplasms were considered as carcinomas with neuroendocrine differentiation and were positive for 3 neuroendocrine markers. CCCs can often present with HM, and long-term outcome is likely poor. Our study concludes that CCC seems to be a rare tumor, but it might be underestimated because of the overlapping features with AGASA. Further studies should aim to define the true incidence of this disease.

Quantitative Stratification of Diffuse Parenchymal Lung Diseases

PubMed Central

Raghunath, Sushravya; Rajagopalan, Srinivasan; Karwoski, Ronald A.; Maldonado, Fabien; Peikert, Tobias; Moua, Teng; Ryu, Jay H.; Bartholmai, Brian J.; Robb, Richard A.

2014-01-01

Diffuse parenchymal lung diseases (DPLDs) are characterized by widespread pathological changes within the pulmonary tissue that impair the elasticity and gas exchange properties of the lungs. Clinical-radiological diagnosis of these diseases remains challenging and their clinical course is characterized by variable disease progression. These challenges have hindered the introduction of robust objective biomarkers for patient-specific prediction based on specific phenotypes in clinical practice for patients with DPLD. Therefore, strategies facilitating individualized clinical management, staging and identification of specific phenotypes linked to clinical disease outcomes or therapeutic responses are urgently needed. A classification schema consistently reflecting the radiological, clinical (lung function and clinical outcomes) and pathological features of a disease represents a critical need in modern pulmonary medicine. Herein, we report a quantitative stratification paradigm to identify subsets of DPLD patients with characteristic radiologic patterns in an unsupervised manner and demonstrate significant correlation of these self-organized disease groups with clinically accepted surrogate endpoints. The proposed consistent and reproducible technique could potentially transform diagnostic staging, clinical management and prognostication of DPLD patients as well as facilitate patient selection for clinical trials beyond the ability of current radiological tools. In addition, the sequential quantitative stratification of the type and extent of parenchymal process may allow standardized and objective monitoring of disease, early assessment of treatment response and mortality prediction for DPLD patients. PMID:24676019

Obstructive Sleep Apnea in Women: Study of Speech and Craniofacial Characteristics

PubMed Central

Tyan, Marina; Fernández Pozo, Rubén; Toledano, Doroteo; Lopez Gonzalo, Eduardo; Alcazar Ramirez, Jose Daniel; Hernandez Gomez, Luis Alfonso

2017-01-01

Background Obstructive sleep apnea (OSA) is a common sleep disorder characterized by frequent cessation of breathing lasting 10 seconds or longer. The diagnosis of OSA is performed through an expensive procedure, which requires an overnight stay at the hospital. This has led to several proposals based on the analysis of patients’ facial images and speech recordings as an attempt to develop simpler and cheaper methods to diagnose OSA. Objective The objective of this study was to analyze possible relationships between OSA and speech and facial features on a female population and whether these possible connections may be affected by the specific clinical characteristics in OSA population and, more specifically, to explore how the connection between OSA and speech and facial features can be affected by gender. Methods All the subjects are Spanish subjects suspected to suffer from OSA and referred to a sleep disorders unit. Voice recordings and photographs were collected in a supervised but not highly controlled way, trying to test a scenario close to a realistic clinical practice scenario where OSA is assessed using an app running on a mobile device. Furthermore, clinical variables such as weight, height, age, and cervical perimeter, which are usually reported as predictors of OSA, were also gathered. Acoustic analysis is centered in sustained vowels. Facial analysis consists of a set of local craniofacial features related to OSA, which were extracted from images after detecting facial landmarks by using the active appearance models. To study the probable OSA connection with speech and craniofacial features, correlations among apnea-hypopnea index (AHI), clinical variables, and acoustic and facial measurements were analyzed. Results The results obtained for female population indicate mainly weak correlations (r values between .20 and .39). Correlations between AHI, clinical variables, and speech features show the prevalence of formant frequencies over bandwidths, with F2/i/ being the most appropriate formant frequency for OSA prediction in women. Results obtained for male population indicate mainly very weak correlations (r values between .01 and .19). In this case, bandwidths prevail over formant frequencies. Correlations between AHI, clinical variables, and craniofacial measurements are very weak. Conclusions In accordance with previous studies, some clinical variables are found to be good predictors of OSA. Besides, strong correlations are found between AHI and some clinical variables with speech and facial features. Regarding speech feature, the results show the prevalence of formant frequency F2/i/ over the rest of features for the female population as OSA predictive feature. Although the correlation reported is weak, this study aims to find some traces that could explain the possible connection between OSA and speech in women. In the case of craniofacial measurements, results evidence that some features that can be used for predicting OSA in male patients are not suitable for testing female population. PMID:29109068

Information Extraction for Clinical Data Mining: A Mammography Case Study

PubMed Central

Nassif, Houssam; Woods, Ryan; Burnside, Elizabeth; Ayvaci, Mehmet; Shavlik, Jude; Page, David

2013-01-01

Breast cancer is the leading cause of cancer mortality in women between the ages of 15 and 54. During mammography screening, radiologists use a strict lexicon (BI-RADS) to describe and report their findings. Mammography records are then stored in a well-defined database format (NMD). Lately, researchers have applied data mining and machine learning techniques to these databases. They successfully built breast cancer classifiers that can help in early detection of malignancy. However, the validity of these models depends on the quality of the underlying databases. Unfortunately, most databases suffer from inconsistencies, missing data, inter-observer variability and inappropriate term usage. In addition, many databases are not compliant with the NMD format and/or solely consist of text reports. BI-RADS feature extraction from free text and consistency checks between recorded predictive variables and text reports are crucial to addressing this problem. We describe a general scheme for concept information retrieval from free text given a lexicon, and present a BI-RADS features extraction algorithm for clinical data mining. It consists of a syntax analyzer, a concept finder and a negation detector. The syntax analyzer preprocesses the input into individual sentences. The concept finder uses a semantic grammar based on the BI-RADS lexicon and the experts’ input. It parses sentences detecting BI-RADS concepts. Once a concept is located, a lexical scanner checks for negation. Our method can handle multiple latent concepts within the text, filtering out ultrasound concepts. On our dataset, our algorithm achieves 97.7% precision, 95.5% recall and an F1-score of 0.97. It outperforms manual feature extraction at the 5% statistical significance level. PMID:23765123

Information Extraction for Clinical Data Mining: A Mammography Case Study.

PubMed

Nassif, Houssam; Woods, Ryan; Burnside, Elizabeth; Ayvaci, Mehmet; Shavlik, Jude; Page, David

2009-01-01

Breast cancer is the leading cause of cancer mortality in women between the ages of 15 and 54. During mammography screening, radiologists use a strict lexicon (BI-RADS) to describe and report their findings. Mammography records are then stored in a well-defined database format (NMD). Lately, researchers have applied data mining and machine learning techniques to these databases. They successfully built breast cancer classifiers that can help in early detection of malignancy. However, the validity of these models depends on the quality of the underlying databases. Unfortunately, most databases suffer from inconsistencies, missing data, inter-observer variability and inappropriate term usage. In addition, many databases are not compliant with the NMD format and/or solely consist of text reports. BI-RADS feature extraction from free text and consistency checks between recorded predictive variables and text reports are crucial to addressing this problem. We describe a general scheme for concept information retrieval from free text given a lexicon, and present a BI-RADS features extraction algorithm for clinical data mining. It consists of a syntax analyzer, a concept finder and a negation detector. The syntax analyzer preprocesses the input into individual sentences. The concept finder uses a semantic grammar based on the BI-RADS lexicon and the experts' input. It parses sentences detecting BI-RADS concepts. Once a concept is located, a lexical scanner checks for negation. Our method can handle multiple latent concepts within the text, filtering out ultrasound concepts. On our dataset, our algorithm achieves 97.7% precision, 95.5% recall and an F 1 -score of 0.97. It outperforms manual feature extraction at the 5% statistical significance level.

Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations

PubMed Central

Gunduz, Mehmet

2016-01-01

Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems. Ophthalmologic examination suggested septooptic dysplasia. Cranial magnetic resonance imaging (MRI) showed nonspecific gliosis at subcortical and periventricular deep white matter. Case II was 2.5-year-old girl referred for investigation of global developmental delay and elevated liver enzymes. Ophthalmologic examination findings were consistent with bilateral nystagmus and retinitis pigmentosa. Cranial MRI was normal. Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients. Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A) mutation in Case II in the PEX1 gene. Clinical findings and developmental prognosis vary in PEX1 gene mutation. Kabuki-like phenotype associated with liver pathology may indicate Zellweger spectrum disorders (ZSD). PMID:27882258

Impairments in the Face-Processing Network in Developmental Prosopagnosia and Semantic Dementia

PubMed Central

Mendez, Mario F.; Ringman, John M.; Shapira, Jill S.

2015-01-01

Background Developmental prosopagnosia (DP) and semantic dementia (SD) may be the two most common neurologic disorders of face processing, but their main clinical and pathophysiologic differences have not been established. To identify those features, we compared patients with DP and SD. Methods Five patients with DP, five with right temporal-predominant SD, and ten normal controls underwent cognitive, visual perceptual, and face-processing tasks. Results Although the patients with SD were more cognitively impaired than those with DP, the two groups did not differ statistically on the visual perceptual tests. On the face-processing tasks, the DP group had difficulty with configural analysis and they reported relying on serial, feature-by-feature analysis or awareness of salient features to recognize faces. By contrast, the SD group had problems with person knowledge and made semantically related errors. The SD group had better face familiarity scores, suggesting a potentially useful clinical test for distinguishing SD from DP. Conclusions These two disorders of face processing represent clinically distinguishable disturbances along a right hemisphere face-processing network: DP, characterized by early configural agnosia for faces, and SD, characterized primarily by a multimodal person knowledge disorder. We discuss these preliminary findings in the context of the current literature on the face-processing network; recent studies suggest an additional right anterior temporal, unimodal face familiarity-memory deficit consistent with an “associative prosopagnosia.” PMID:26705265

A practical salient region feature based 3D multi-modality registration method for medical images

NASA Astrophysics Data System (ADS)

Hahn, Dieter A.; Wolz, Gabriele; Sun, Yiyong; Hornegger, Joachim; Sauer, Frank; Kuwert, Torsten; Xu, Chenyang

2006-03-01

We present a novel representation of 3D salient region features and its integration into a hybrid rigid-body registration framework. We adopt scale, translation and rotation invariance properties of those intrinsic 3D features to estimate a transform between underlying mono- or multi-modal 3D medical images. Our method combines advantageous aspects of both feature- and intensity-based approaches and consists of three steps: an automatic extraction of a set of 3D salient region features on each image, a robust estimation of correspondences and their sub-pixel accurate refinement with outliers elimination. We propose a region-growing based approach for the extraction of 3D salient region features, a solution to the problem of feature clustering and a reduction of the correspondence search space complexity. Results of the developed algorithm are presented for both mono- and multi-modal intra-patient 3D image pairs (CT, PET and SPECT) that have been acquired for change detection, tumor localization, and time based intra-person studies. The accuracy of the method is clinically evaluated by a medical expert with an approach that measures the distance between a set of selected corresponding points consisting of both anatomical and functional structures or lesion sites. This demonstrates the robustness of the proposed method to image overlap, missing information and artefacts. We conclude by discussing potential medical applications and possibilities for integration into a non-rigid registration framework.

Application of Multilabel Learning Using the Relevant Feature for Each Label in Chronic Gastritis Syndrome Diagnosis

PubMed Central

Liu, Guo-Ping; Yan, Jian-Jun; Wang, Yi-Qin; Fu, Jing-Jing; Xu, Zhao-Xia; Guo, Rui; Qian, Peng

2012-01-01

Background. In Traditional Chinese Medicine (TCM), most of the algorithms are used to solve problems of syndrome diagnosis that only focus on one syndrome, that is, single label learning. However, in clinical practice, patients may simultaneously have more than one syndrome, which has its own symptoms (signs). Methods. We employed a multilabel learning using the relevant feature for each label (REAL) algorithm to construct a syndrome diagnostic model for chronic gastritis (CG) in TCM. REAL combines feature selection methods to select the significant symptoms (signs) of CG. The method was tested on 919 patients using the standard scale. Results. The highest prediction accuracy was achieved when 20 features were selected. The features selected with the information gain were more consistent with the TCM theory. The lowest average accuracy was 54% using multi-label neural networks (BP-MLL), whereas the highest was 82% using REAL for constructing the diagnostic model. For coverage, hamming loss, and ranking loss, the values obtained using the REAL algorithm were the lowest at 0.160, 0.142, and 0.177, respectively. Conclusion. REAL extracts the relevant symptoms (signs) for each syndrome and improves its recognition accuracy. Moreover, the studies will provide a reference for constructing syndrome diagnostic models and guide clinical practice. PMID:22719781

Benefits of teaching medical students how to communicate with patients having serious illness: comparison of two approaches to experiential, skill-based, and self-reflective learning.

PubMed

Ellman, Matthew S; Fortin, Auguste H

2012-06-01

Innovative approaches are needed to teach medical students effective and compassionate communication with seriously ill patients. We describe two such educational experiences in the Yale Medical School curriculum for third-year medical students: 1) Communicating Difficult News Workshop and 2) Ward-Based End-of-Life Care Assignment. These two programs address educational needs to teach important clinical communication and assessment skills to medical students that previously were not consistently or explicitly addressed in the curriculum. The two learning programs share a number of educational approaches driven by the learning objectives, the students' development, and clinical realities. Common educational features include: experiential learning, the Biopsychosocial Model, patient-centered communication, integration into clinical clerkships, structured skill-based learning, self-reflection, and self-care. These shared features - as well as some differences - are explored in this paper in order to illustrate key issues in designing and implementing medical student education in these areas.

Stabilizing l1-norm prediction models by supervised feature grouping.

PubMed

Kamkar, Iman; Gupta, Sunil Kumar; Phung, Dinh; Venkatesh, Svetha

2016-02-01

Emerging Electronic Medical Records (EMRs) have reformed the modern healthcare. These records have great potential to be used for building clinical prediction models. However, a problem in using them is their high dimensionality. Since a lot of information may not be relevant for prediction, the underlying complexity of the prediction models may not be high. A popular way to deal with this problem is to employ feature selection. Lasso and l1-norm based feature selection methods have shown promising results. But, in presence of correlated features, these methods select features that change considerably with small changes in data. This prevents clinicians to obtain a stable feature set, which is crucial for clinical decision making. Grouping correlated variables together can improve the stability of feature selection, however, such grouping is usually not known and needs to be estimated for optimal performance. Addressing this problem, we propose a new model that can simultaneously learn the grouping of correlated features and perform stable feature selection. We formulate the model as a constrained optimization problem and provide an efficient solution with guaranteed convergence. Our experiments with both synthetic and real-world datasets show that the proposed model is significantly more stable than Lasso and many existing state-of-the-art shrinkage and classification methods. We further show that in terms of prediction performance, the proposed method consistently outperforms Lasso and other baselines. Our model can be used for selecting stable risk factors for a variety of healthcare problems, so it can assist clinicians toward accurate decision making. Copyright © 2015 Elsevier Inc. All rights reserved.

Gender differences in demographic and clinical features and prescribing patterns of psychotropic medications in patients with major depressive disorder in China.

PubMed

Xiang, Yu-Tao; Wang, Gang; Guo, Tong; Hu, Chen; Ungvari, Gabor S; Kilbourne, Amy M; Lai, Kelly Y C; Wong, Samuel Y S; Si, Tian-Mei; Zheng, Qi-Wen; Chen, Da-Fang; Fang, Yi-Ru; Lu, Zheng; Yang, Hai-Chen; Hu, Jian; Chen, Zhi-Yu; Huang, Yi; Sun, Jing; Wang, Xiao-Ping; Li, Hui-Chun; Zhang, Jin-Bei; Chiu, Helen F K

2013-11-01

Little is known about gender differences associated with major depressive disorder (MDD) in China. This study examined gender differences associated with other demographic and clinical characteristics and psychotropic drug treatment in Chinese patients with MDD. A total of 1178 patients with MDD from 13 psychiatric hospitals or psychiatric units of general hospitals in China nationwide were enrolled. Cross-sectional data including patients' demographic and clinical characteristics and prescriptions of psychotropic medications were recorded using a standardized protocol and data collection procedure. The sample consisted of 793 female and 385 male patients. Univariate analyses revealed that male patients were younger than female patients, had a younger age of onset of depression, had less lifetime depressive episodes and had more bipolar features (i.e. patients who screened positive for hypomanic symptoms on the 32-item Hypomania Checklist, but did not meet the diagnostic criteria for DSM-IV bipolar disorders as measured by the Mini International Neuropsychiatric Interview). Also, men were more likely to be employed than women and less likely to have depressive episodes following stressful life events. In multivariate analyses, being employed, having bipolar features and not having depressive episodes following stressful life events were independently associated with being a male patient with major depressive disorder. There was no difference in use of psychotropic medications by gender. Most gender differences in MDD patients in this study are not consistent with findings of Western studies suggesting that gender differences in MDD may be determined by both biological and sociocultural differences among ethnically different patient populations. Copyright © 2013 Elsevier Inc. All rights reserved.

MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

PubMed

Tonduti, Davide; Vanderver, Adeline; Berardinelli, Angela; Schmidt, Johanna L; Collins, Christin D; Novara, Francesca; Genni, Antonia Di; Mita, Alda; Triulzi, Fabio; Brunstrom-Hernandez, Janice E; Zuffardi, Orsetta; Balottin, Umberto; Orcesi, Simona

2013-06-01

Monocarboxylate transporter 8 (MCT8) deficiency is an X-linked disorder resulting from an impairment of the transcellular transportation of thyroid hormones. Within the central nervous system thyroid hormone transport is normally mediated by MCT8. Patients are described as affected by a static or slowly progressive clinical picture which consists of variable degrees of mental retardation, hypotonia, spasticity, ataxia and involuntary movements, occasionally paroxysmal. The authors describe the clinical and neuroradiological picture of 3 males patients with marked delayed brain myelination and in which the clinical picture was dominated by early onset nonparoxysmal extrapyramidal symptoms. In one subject a novel mutation is described.

Bilateral sudden sensorineural hearing loss as a presenting feature of systemic lupus erythematosus

PubMed Central

Chawki, Sylvain; Aouizerate, Jessie; Trad, Selim; Prinseau, Jacques; Hanslik, Thomas

2016-01-01

Abstract Introduction: Sudden sensorineural hearing loss is an unusual presenting clinical feature of systemic lupus erythematosus. Case report: We report the case of a young woman who was admitted to hospital for sudden sensorineural hearing loss and hemophagocytic syndrome which was attributed to systemic lupus erythematosus on the basis of specific renal involvement, thrombocytopenia, and consistent autoantibodies. Favorable outcome was obtained on high-dose corticosteroids, and the hearing fully recovered. Discussion: Sudden sensorineural hearing loss in systemic lupus erythematosus is seemingly more frequently associated with severe systemic involvement and antiphospholipid antibodies may be present. Although management remains empirical, the high risk of permanent hearing impairment seems to justify emergency treatment with high-dose corticosteroids. When the clinical and laboratory criteria of antiphospholipid syndrome are met, antiplatelets agents or anticoagulation therapy shall be considered. PMID:27603334

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.

Incidence, Clinical Correlates and Treatment Effect of Rage in Anxious Children

PubMed Central

Salloum, Alison; De Nadai, Alessandro S.; McBride, Nicole; Crawford, Erika A.; Lewin, Adam B.; Storch, Eric A.

2015-01-01

Episodic rage represents an important and underappreciated clinical feature in pediatric anxiety. This study examined the incidence and clinical correlates of rage in children with anxiety disorders. Change in rage during treatment for anxiety was also examined. Participants consisted of 107 children diagnosed with an anxiety disorder and their parents. Participants completed structured clinical interviews and questionnaire measures to assess rage, anxiety, functional impairment, family accommodation and caregiver strain, as well as the quality of the child's relationship with family and peers. Rage was a common feature amongst children with anxiety disorders. Rage was associated with a more severe clinical profile, including increased anxiety severity, functional impairment, family accommodation and caregiver strain, as well as poorer relationships with parents, siblings, extended family and peers. Rage was more common in children with separation anxiety, comorbid anxiety, attention deficit/hyperactivity disorder and behavioral disorders, but not depressive symptoms. Rage predicted higher levels of functional impairment, beyond the effect of anxiety severity. Rage severity reduced over treatment in line with changes in anxiety symptoms. Findings suggest that rage is a marker of greater psychopathology in anxious youth. Standard cognitive behavioral treatment for anxiety appears to reduce rage without adjunctive treatment. PMID:26235476

Automated identification of diagnosis and co-morbidity in clinical records.

PubMed

Cano, C; Blanco, A; Peshkin, L

2009-01-01

Automated understanding of clinical records is a challenging task involving various legal and technical difficulties. Clinical free text is inherently redundant, unstructured, and full of acronyms, abbreviations and domain-specific language which make it challenging to mine automatically. There is much effort in the field focused on creating specialized ontology, lexicons and heuristics based on expert knowledge of the domain. However, ad-hoc solutions poorly generalize across diseases or diagnoses. This paper presents a successful approach for a rapid prototyping of a diagnosis classifier based on a popular computational linguistics platform. The corpus consists of several hundred of full length discharge summaries provided by Partners Healthcare. The goal is to identify a diagnosis and assign co-morbidi-ty. Our approach is based on the rapid implementation of a logistic regression classifier using an existing toolkit: LingPipe (http://alias-i.com/lingpipe). We implement and compare three different classifiers. The baseline approach uses character 5-grams as features. The second approach uses a bag-of-words representation enriched with a small additional set of features. The third approach reduces a feature set to the most informative features according to the information content. The proposed systems achieve high performance (average F-micro 0.92) for the task. We discuss the relative merit of the three classifiers. Supplementary material with detailed results is available at: http:// decsai.ugr.es/~ccano/LR/supplementary_ material/ We show that our methodology for rapid prototyping of a domain-unaware system is effective for building an accurate classifier for clinical records.

Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

PubMed

Castori, Marco; Dordoni, Chiara; Morlino, Silvia; Sperduti, Isabella; Ritelli, Marco; Valiante, Michele; Chiarelli, Nicola; Zanca, Arianna; Celletti, Claudia; Venturini, Marina; Camerota, Filippo; Calzavara-Pinton, Piergiacomo; Grammatico, Paola; Colombi, Marina

2015-03-01

Cutaneous manifestations are a diagnostic criterion of Ehlers-Danlos syndrome, hypermobility type (EDS-HT) and joint hypermobility syndrome (JHS). These two conditions, originally considered different disorders, are now accepted as clinically indistinguishable and often segregate as a single-familial trait. EDS-HT and JHS are still exclusion diagnoses not supported by any specific laboratory test. Accuracy of clinical diagnosis is, therefore, crucial for appropriate patients' classification and management, but it is actually hampered by the low consistency of many applied criteria including the cutaneous one. We report on mucocutaneous findings in 277 patients with JHS/EDS-HT with both sexes and various ages. Sixteen objective and five anamnestic items were selected and ascertained in two specialized outpatient clinics. Feature rates were compared by sex and age by a series of statistical tools. Data were also used for a multivariate correspondence analysis with the attempt to identify non-causal associations of features depicting recognizable phenotypic clusters. Our findings identified a few differences between sexes and thus indicated an attenuated sexual dimorphism for mucocutaneous features in JHS/EDS-HT. Ten features showed significantly distinct rates at different ages and this evidence corroborated the concept of an evolving phenotype in JHS/EDS-HT also affecting the skin. Multivariate correspondence analysis identified three relatively discrete phenotypic profiles, which may represent the cutaneous counterparts of the three disease phases previously proposed for JHS/EDS-HT. These findings could be used for revising the cutaneous criterion in a future consensus for the clinical diagnosis of JHS/EDS-HT. © 2015 Wiley Periodicals, Inc.

Cytomorphological Spectrum of Thyroiditis: A Review of 110 Cases

PubMed Central

Nair, Rahul; Gambhir, Anushree; Kaur, Supreet; Pandey, Aditi; Shetty, Abhinav; Naragude, Piyusha

2018-01-01

Introduction Different types of thyroiditis may share some parallel clinical and biochemical features. Timely intervention can significantly reduce morbidity and mortality. Aim Aim of this study is to find the frequency of various thyroiditis, study the cytomorphological features and correlate with clinical findings including radiological findings, thyroid function test, and anti-thyroid peroxidase antibodies (Anti-TPO antibodies). Materials and Methods The study included consecutive 110 cases of thyroiditis. Detailed cytomorphological features were studied and correlated with ultrasonography findings, thyroid function test, anti-thyroid peroxidase antibodies (anti-TPO) and histopathological features where thyroidectomy specimens were received for histopathological examination. Results The majority were Hashimoto's thyroiditis (n = 100) and females (n = 103). Other forms of thyroiditis were Hashimoto's thyroiditis with colloid goiter (n = 5), De Quervain's thyroiditis (n = 3), and one case each of postpartum thyroiditis and Hashimoto's thyroiditis with associated malignancy. The majority of patients were in the age group of 21–40 (n = 70) and the majority (n = 73) had diffuse enlargement of thyroid. The majority of patients were hypothyroid (n = 52). The serum anti-TPO antibodies were elevated in 47 patients out of 71 patients. In the 48 patients who underwent ultrasonography, 38 were diagnosed as having thyroiditis. The most consistent cytomorphological features seen in fine-needle aspiration smears of Hashimoto's thyroiditis were increased background lymphocytes, lymphocytic infiltration of thyroid follicular cell clusters, and Hurthle cells. Conclusion The diagnostic cytological features in Hashimoto's thyroiditis are increased background lymphocytes, lymphocytic infiltration of thyroid follicular cell clusters, and Hurthle cells. FNAC remains the “Gold Standard” for diagnosing Hashimoto's thyroiditis. Clinical history, thyroid function, and biochemical parameters are the key for diagnosis of other forms of thyroiditis. PMID:29686830

Identifying key radiogenomic associations between DCE-MRI and micro-RNA expressions for breast cancer

NASA Astrophysics Data System (ADS)

Samala, Ravi K.; Chan, Heang-Ping; Hadjiiski, Lubomir; Helvie, Mark A.; Kim, Renaid

2017-03-01

Understanding the key radiogenomic associations for breast cancer between DCE-MRI and micro-RNA expressions is the foundation for the discovery of radiomic features as biomarkers for assessing tumor progression and prognosis. We conducted a study to analyze the radiogenomic associations for breast cancer using the TCGA-TCIA data set. The core idea that tumor etiology is a function of the behavior of miRNAs is used to build the regression models. The associations based on regression are analyzed for three study outcomes: diagnosis, prognosis, and treatment. The diagnosis group consists of miRNAs associated with clinicopathologic features of breast cancer and significant aberration of expression in breast cancer patients. The prognosis group consists of miRNAs which are closely associated with tumor suppression and regulation of cell proliferation and differentiation. The treatment group consists of miRNAs that contribute significantly to the regulation of metastasis thereby having the potential to be part of therapeutic mechanisms. As a first step, important miRNA expressions were identified and their ability to classify the clinical phenotypes based on the study outcomes was evaluated using the area under the ROC curve (AUC) as a figure-of-merit. The key mapping between the selected miRNAs and radiomic features were determined using least absolute shrinkage and selection operator (LASSO) regression analysis within a two-loop leave-one-out cross-validation strategy. These key associations indicated a number of radiomic features from DCE-MRI to be potential biomarkers for the three study outcomes.

The Spectrum of Optic Disc Ischemia in Patients Younger than 50 Years (An Amercian Ophthalmological Society Thesis)

PubMed Central

Arnold, Anthony C.; Costa, Roberta M. S.; Dumitrascu, Oana M.

2013-01-01

Purpose: To identify the spectrum of clinical and fluorescein angiographic features of optic disc ischemia in patients younger than 50 years. Methods: This retrospective comparative case series from a university consultative neuro-ophthalmology practice consisted of two phases. The first compared 108 cases of nonarteritic anterior ischemic optic neuropathy in patients younger than 50 years (NAIONy) to a cohort of 108 cases in patients 50 years or older (NAIONo). Predisposing risk factors, fluorescein angiographic features, and clinical course were compared. In the second phase, 12 cases of diabetic papillopathy under age 50 were assessed by fluorescein angiographic criteria for evidence of optic disc ischemia and compared to patients with NAIONy. Results: NAIONy comprised 108 (12.7%) of 848 NAION cases reviewed. Chronic renal failure with dialysis and migraine were more common in NAIONy. Fellow eye involvement rate was significantly higher for NAIONy patients (46/108, 42.6%) than for NAIONo patients (32/108, 29.6%). Fluorescein angiographic features of ischemia were documented in 44 (81.5%) of 54 eyes studied. In one case, these features were documented in pre-NAION edema. Diabetic papillopathy demonstrated delayed filling consistent with ischemia in 7 of 10 (70.0%), without significant visual field loss. Conclusions: Ischemic optic neuropathy in patients younger than 50 years is not rare. Fellow eye involvement is more frequent in younger patients. Fluorescein angiography confirmation of impaired perfusion in multiple syndromes of optic neuropathy corroborates a spectrum of optic disc ischemia ranging from perfusion delay without visual loss to severely impaired perfusion and visual loss and incorporates optic neuropathies previously considered nonischemic. PMID:24167327

Pastes: what do they contain? How do they work?

PubMed

Juch, R D; Rufli, T; Surber, C

1994-01-01

Pastes are semisolid stiff preparations containing a high proportion of finely powdered material. Powders such as zinc oxide, titanium dioxide, starch, kaolin or talc are incorporated in high concentrations into a preferably lipophilic, greasy vehicle. A clinically distinctive feature which is generally attributed to pastes is the quality to absorb exudates by nature of the powder or other absorptive components. Reviewing the various pharmacopoeias serious doubts arise from the various formulas of pastes and their absorptive features. The zinc oxide pastes of the USP XXII, the DAB 10 and BP 88 (US, German and British pharmacopoeias). are composed of petrolatum, zinc oxide and starch. Petrolatum, a highly lipophilic, water-immiscible vehicle surrounds the powder particles preventing any absorption of water or exudates. The goal of our investigation was to test a simple experimental setting to characterize the clinically important absorptive feature of powders and pastes. The absorptive features of the powders were determined by the method of Enslin. The absorptive features of the paste preparations were calculated from the weight difference between the paste preparation before and after incubation with water using a simple standardized procedure. The absorptive features of titanium dioxide, zinc oxide, kaolin, corn starch and methylcellulose powder in pharmacopoeia quality were determined. Zinc oxide and kaolin powder showed the highest absorption of 1,000 mg water/g powder (100%). The water absorption of corn starch and titanium dioxide was 700 and 450 mg/g powder, respectively. The absorptive features of a series of paste preparations were studied in a simple experimental setting. The data show that two-phase pastes consisting of two immiscible components, one (the dispersed or inner phase; powder) being suspended in the other (the continuous or outer phase; lipophilic vehicle), have no absorptive features. In contrast, three-phase pastes consisting of a hydrophilic two-phase emulsion with high concentrations of incorporated powder (cream pastes) show considerable water uptake. We conclude that the classical two-phase pastes such as the zinc oxide pastes have no absorptive features. On the contrary, these formulations are highly occlusive. Therefore lipophilic pastes are only indicated when protection of intact skin against aggressive body exudates and humidity is required. The hydrophilic three-phase pastes or cream pastes show considerable water uptake and fulfil common expectations of pastes to dry the skin.

Obstructive Sleep Apnea in Women: Study of Speech and Craniofacial Characteristics.

PubMed

Tyan, Marina; Espinoza-Cuadros, Fernando; Fernández Pozo, Rubén; Toledano, Doroteo; Lopez Gonzalo, Eduardo; Alcazar Ramirez, Jose Daniel; Hernandez Gomez, Luis Alfonso

2017-11-06

Obstructive sleep apnea (OSA) is a common sleep disorder characterized by frequent cessation of breathing lasting 10 seconds or longer. The diagnosis of OSA is performed through an expensive procedure, which requires an overnight stay at the hospital. This has led to several proposals based on the analysis of patients' facial images and speech recordings as an attempt to develop simpler and cheaper methods to diagnose OSA. The objective of this study was to analyze possible relationships between OSA and speech and facial features on a female population and whether these possible connections may be affected by the specific clinical characteristics in OSA population and, more specifically, to explore how the connection between OSA and speech and facial features can be affected by gender. All the subjects are Spanish subjects suspected to suffer from OSA and referred to a sleep disorders unit. Voice recordings and photographs were collected in a supervised but not highly controlled way, trying to test a scenario close to a realistic clinical practice scenario where OSA is assessed using an app running on a mobile device. Furthermore, clinical variables such as weight, height, age, and cervical perimeter, which are usually reported as predictors of OSA, were also gathered. Acoustic analysis is centered in sustained vowels. Facial analysis consists of a set of local craniofacial features related to OSA, which were extracted from images after detecting facial landmarks by using the active appearance models. To study the probable OSA connection with speech and craniofacial features, correlations among apnea-hypopnea index (AHI), clinical variables, and acoustic and facial measurements were analyzed. The results obtained for female population indicate mainly weak correlations (r values between .20 and .39). Correlations between AHI, clinical variables, and speech features show the prevalence of formant frequencies over bandwidths, with F2/i/ being the most appropriate formant frequency for OSA prediction in women. Results obtained for male population indicate mainly very weak correlations (r values between .01 and .19). In this case, bandwidths prevail over formant frequencies. Correlations between AHI, clinical variables, and craniofacial measurements are very weak. In accordance with previous studies, some clinical variables are found to be good predictors of OSA. Besides, strong correlations are found between AHI and some clinical variables with speech and facial features. Regarding speech feature, the results show the prevalence of formant frequency F2/i/ over the rest of features for the female population as OSA predictive feature. Although the correlation reported is weak, this study aims to find some traces that could explain the possible connection between OSA and speech in women. In the case of craniofacial measurements, results evidence that some features that can be used for predicting OSA in male patients are not suitable for testing female population. ©Marina Tyan, Fernando Espinoza-Cuadros, Rubén Fernández Pozo, Doroteo Toledano, Eduardo Lopez Gonzalo, Jose Daniel Alcazar Ramirez, Luis Alfonso Hernandez Gomez. Originally published in JMIR Mhealth and Uhealth (http://mhealth.jmir.org), 06.11.2017.

Severity of clinical disease and pathology in ferrets experimentally infected with influenza viruses is influenced by inoculum volume.

PubMed

Moore, Ian N; Lamirande, Elaine W; Paskel, Myeisha; Donahue, Danielle; Kenney, Heather; Qin, Jing; Subbarao, Kanta

2014-12-01

Ferrets are a valuable model for influenza virus pathogenesis, virus transmission, and antiviral therapy studies. However, the contributions of the volume of inoculum administered and the ferret's respiratory tract anatomy to disease outcome have not been explored. We noted variations in clinical disease outcomes and the volume of inoculum administered and investigated these differences by administering two influenza viruses (A/California/07/2009 [H1N1 pandemic] and A/Minnesota/11/2010 [H3N2 variant]) to ferrets intranasally at a dose of 10(6) 50% tissue culture infective doses in a range of inoculum volumes (0.2, 0.5, or 1.0 ml) and followed viral replication, clinical disease, and pathology over 6 days. Clinical illness and respiratory tract pathology were the most severe and most consistent when the viruses were administered in a volume of 1.0 ml. Using a modified micro-computed tomography imaging method and examining gross specimens, we found that the right main-stem bronchus was consistently larger in diameter than the left main-stem bronchus, though the latter was longer and straighter. These anatomic features likely influence the distribution of the inoculum in the lower respiratory tract. A 1.0-ml volume of inoculum is optimal for delivery of virus to the lower respiratory tract of ferrets, particularly when evaluation of clinical disease is desired. Furthermore, we highlight important anatomical features of the ferret lung that influence the kinetics of viral replication, clinical disease severity, and lung pathology. Ferrets are a valuable model for influenza virus pathogenesis, virus transmission, and antiviral therapy studies. Clinical disease in ferrets is an important parameter in evaluating the virulence of novel influenza viruses, and findings are extrapolated to virulence in humans. Therefore, it is highly desirable that the data from different laboratories be accurate and reproducible. We have found that, even when the same virus was administered at similar doses, different investigators reported a range of clinical disease outcomes, from asymptomatic infection to severe weight loss, ocular and nasal discharge, sneezing, and lethargy. We found that a wide range of inoculum volumes was used to experimentally infect ferrets, and we sought to determine whether the variations in disease outcome were the result of the volume of inoculum administered. These data highlight some less explored features of the model, methods of experimental infection, and clinical disease outcomes in a research setting. Copyright © 2014, American Society for Microbiology. All Rights Reserved.

Severity of Clinical Disease and Pathology in Ferrets Experimentally Infected with Influenza Viruses Is Influenced by Inoculum Volume

PubMed Central

Moore, Ian N.; Lamirande, Elaine W.; Paskel, Myeisha; Donahue, Danielle; Qin, Jing

2014-01-01

ABSTRACT Ferrets are a valuable model for influenza virus pathogenesis, virus transmission, and antiviral therapy studies. However, the contributions of the volume of inoculum administered and the ferret's respiratory tract anatomy to disease outcome have not been explored. We noted variations in clinical disease outcomes and the volume of inoculum administered and investigated these differences by administering two influenza viruses (A/California/07/2009 [H1N1 pandemic] and A/Minnesota/11/2010 [H3N2 variant]) to ferrets intranasally at a dose of 106 50% tissue culture infective doses in a range of inoculum volumes (0.2, 0.5, or 1.0 ml) and followed viral replication, clinical disease, and pathology over 6 days. Clinical illness and respiratory tract pathology were the most severe and most consistent when the viruses were administered in a volume of 1.0 ml. Using a modified micro-computed tomography imaging method and examining gross specimens, we found that the right main-stem bronchus was consistently larger in diameter than the left main-stem bronchus, though the latter was longer and straighter. These anatomic features likely influence the distribution of the inoculum in the lower respiratory tract. A 1.0-ml volume of inoculum is optimal for delivery of virus to the lower respiratory tract of ferrets, particularly when evaluation of clinical disease is desired. Furthermore, we highlight important anatomical features of the ferret lung that influence the kinetics of viral replication, clinical disease severity, and lung pathology. IMPORTANCE Ferrets are a valuable model for influenza virus pathogenesis, virus transmission, and antiviral therapy studies. Clinical disease in ferrets is an important parameter in evaluating the virulence of novel influenza viruses, and findings are extrapolated to virulence in humans. Therefore, it is highly desirable that the data from different laboratories be accurate and reproducible. We have found that, even when the same virus was administered at similar doses, different investigators reported a range of clinical disease outcomes, from asymptomatic infection to severe weight loss, ocular and nasal discharge, sneezing, and lethargy. We found that a wide range of inoculum volumes was used to experimentally infect ferrets, and we sought to determine whether the variations in disease outcome were the result of the volume of inoculum administered. These data highlight some less explored features of the model, methods of experimental infection, and clinical disease outcomes in a research setting. PMID:25187553

The blue globular pattern in dermoscopy.

PubMed

Roberti, V; Devirgiliis, V; Curzio, M; Gobbi, S; Coppola, R; Calvieri, S; Panasiti, V

2013-01-01

Seborrheic keratosis (SK) is a frequent benign epithelial skin tumor. Generally its diagnosis is clinical, however SK can sometimes clinically simulate a melanocytic lesion; therefore we need dermoscopy to reach a correct diagnosis. Milia-like cysts and comedo-like openings are the common dermoscopic features of SK, but it is not a rare finding that SK can display one or more dermoscopic patterns suggestive of a melanocytic origin. We describe a case series of SKs with a blue globular pattern simulating a melanocytic lesion. We retrospectively evaluated 224 SKs seen during 2011 at the Dermatoscopy Unit of the Department of Dermatology, University of Rome 'Sapienza'. Five SKs showed a blue globular pattern, without the SK main features generally seen in dermoscopy; globules were multiple, round or oval, well-demarcated, small and medium-sized, blue-colored and equally distributed within the lesion. Histopathologic examination was consistent with acanthotic SK. Identification of the blue globular pattern can be helpful for the dermoscopic diagnosis of SK, especially when its common dermoscopic features are absent. Copyright © 2013 S. Karger AG, Basel.

Essential pitfalls in "essential” tremor

PubMed Central

Espay, AJ; Lang, AE; Erro, R; Merola, A; Fasano, A; Berardelli, A; Bhatia, KP

2016-01-01

While essential tremor has been considered the most common movement disorder, it has largely remained a diagnosis of exclusion: many tremor and non-tremor features must be absent for the clinical diagnosis to stand. The clinical features of “essential tremor” overlap with or may be part of other tremor disorders and, not surprisingly, this prevalent familial disorder has remained without a gene identified, without a consistent natural history, and without an acceptable pathology or pathophysiologic underpinning. The collective evidence suggests that under the rubric of essential tremor there exists multiple unique diseases, some of which represent cerebellar dysfunction, but for which there is no intrinsic “essence” other than a common oscillatory behavior on posture and action. One approach may be to use the term “essential tremor” only as a transitional node in the deep phenotyping of tremor disorders based on historical, phenomenological, and neurophysiological features, to facilitate its etiologic diagnosis or serve for future gene- and biomarker-discovery efforts. This approach deemphasizes essential tremor as a diagnostic entity and facilitates the understanding of the underlying disorders in order to develop biologically tailored diagnostic and therapeutic strategies. PMID:28116753

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.

Birt-Hogg-Dubé syndrome.

PubMed

Godbolt, Amanda M; Robertson, Ivan M; Weedon, David

2003-02-01

We present three members of a Queensland family with clinical and histopathological features consistent with Birt-Hogg-Dubé syndrome. Two of the three family members were able to be screened for associated disorders. The mother of the family was found to have a solitary colonic polyp, a large ovarian cyst and two chorioretinal scars. No associated disorders were found on investigation of one of the two affected sons.

Automated discrimination of dementia spectrum disorders using extreme learning machine and structural T1 MRI features.

PubMed

Jongin Kim; Boreom Lee

2017-07-01

The classification of neuroimaging data for the diagnosis of Alzheimer's Disease (AD) is one of the main research goals of the neuroscience and clinical fields. In this study, we performed extreme learning machine (ELM) classifier to discriminate the AD, mild cognitive impairment (MCI) from normal control (NC). We compared the performance of ELM with that of a linear kernel support vector machine (SVM) for 718 structural MRI images from Alzheimer's Disease Neuroimaging Initiative (ADNI) database. The data consisted of normal control, MCI converter (MCI-C), MCI non-converter (MCI-NC), and AD. We employed SVM-based recursive feature elimination (RFE-SVM) algorithm to find the optimal subset of features. In this study, we found that the RFE-SVM feature selection approach in combination with ELM shows the superior classification accuracy to that of linear kernel SVM for structural T1 MRI data.

Challenges and solutions to pre- and post-randomization subgroup analyses.

PubMed

Desai, Manisha; Pieper, Karen S; Mahaffey, Ken

2014-01-01

Subgroup analyses are commonly performed in the clinical trial setting with the purpose of illustrating that the treatment effect was consistent across different patient characteristics or identifying characteristics that should be targeted for treatment. There are statistical issues involved in performing subgroup analyses, however. These have been given considerable attention in the literature for analyses where subgroups are defined by a pre-randomization feature. Although subgroup analyses are often performed with subgroups defined by a post-randomization feature--including analyses that estimate the treatment effect among compliers--discussion of these analyses has been neglected in the clinical literature. Such analyses pose a high risk of presenting biased descriptions of treatment effects. We summarize the challenges of doing all types of subgroup analyses described in the literature. In particular, we emphasize issues with post-randomization subgroup analyses. Finally, we provide guidelines on how to proceed across the spectrum of subgroup analyses.

Propofol-Related Infusion Syndrome in Critically Ill Pediatric Patients: Coincidence, Association, or Causation?

PubMed Central

Timpe, Erin M.; Eichner, Samantha F.; Phelps, Stephanie J.

2006-01-01

Over the past two decades numerous reports have described the development of a propofol-related infusion syndrome (PRIS) in critically ill adult and pediatric patients who received continuous infusion propofol for anesthesia or sedation. The syndrome is generally characterized by progressive metabolic acidosis, hemodynamic instability and bradyarrhythmias that are refractory to aggressive pharmacological treatments. PRIS may occur with or without the presence of hepatomegaly, rhabdomyolysis or lipemia. To date, the medical literature contains accounts of 20 deaths in critically ill pediatric patients who developed features consistent with PRIS. These reports have generated considerable discussion and debate regarding the relationship, if any, between propofol and a constellation of clinical symptoms and features that have been attributed to its use in critically ill pediatric patients. This paper reviews the literature concerning PRIS, its clinical presentation, proposed mechanisms for the syndrome, and potential management should the syndrome occur. PMID:23118644

Trisomy 4p and deletion 4p- in a family having translocation, t(4p-; 12p+).

PubMed

Mortimer, J G; Chewings, W; Miethke, P; Smith, G F

1978-01-01

Chromosome studies on a newborn infant with the clinical features of 4p-syndrome revealed a 46,XY,4p-karyotype with deletion of bands distal to 4p14. Investigation of the family revealed normal chromosomes in the mother and a balanced translocation rcp(4;12) (p14;p13) in the father, the paternal grandfather and an uncle. A severely retarded and malformed aunt is a partial trismoy for the short arms of chromosome 4, with the unbalanced karyotype 45,XX,12p+. It appears that monosomy of bands 4p15 and 4p16 leads to the full clinical features of 4p-syndrome, while trisomy of this region causes disabilities consistent with the rather more variable 4p trisomy syndrome. From currently reported cases, a summary is presented of the results of pregnancies of both male and female translocation carriers.

A proposed computer diagnostic system for malignant melanoma (CDSMM).

PubMed

Shao, S; Grams, R R

1994-04-01

This paper describes a computer diagnostic system for malignant melanoma. The diagnostic system is a rule base system based on image analyses and works under the PC windows environment. It consists of seven modules: I/O module, Patient/Clinic database, image processing module, classification module, rule base module and system control module. In the system, the image analyses are automatically carried out, and database management is efficient and fast. Both final clinic results and immediate results from various modules such as measured features, feature pictures and history records of the disease lesion can be presented on screen or printed out from each corresponding module or from the I/O module. The system can also work as a doctor's office-based tool to aid dermatologists with details not perceivable by the human eye. Since the system operates on a general purpose PC, it can be made portable if the I/O module is disconnected.

Clinical and ultrasound features in patients with intersection syndrome or de Quervain's disease.

PubMed

Sato, J; Ishii, Y; Noguchi, H

2016-02-01

We investigated the demographic characteristics of patients who were diagnosed with intersection syndrome and also investigated the dominance of the affected hand, duration of symptoms and any precipitating factor for pain of the wrist. These features were compared with patients who had de Quervain's disease. Ultrasonography was used to confirm the clinical diagnosis. Intersection syndrome occurred more frequently in men and in the dominant hand than de Quervain's disease when all the patients were compared and when peripartum women were excluded. It occurred at a younger age than de Quervain's disease only when the comparison excluded peripartum women. Patients with intersection syndrome presented with a much shorter duration of symptoms. These results were consistent with previous reports about occupational factors in intersection syndrome, and might be helpful in the understanding of epidemiological difference between the two conditions. Level 3. © The Author(s) 2015.

Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.

PubMed

Marshall, Christian R; Farrell, Sandra A; Cushing, Donna; Paton, Tara; Stockley, Tracy L; Stavropoulos, Dimitri J; Ray, Peter N; Szego, Michael; Lau, Lynette; Pereira, Sergio L; Cohn, Ronald D; Wintle, Richard F; Abuzenadah, Adel M; Abu-Elmagd, Muhammad; Scherer, Stephen W

2015-01-01

We report a consanguineous couple that has experienced three consecutive pregnancy losses following the foetal ultrasound finding of short limbs. Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mildly dysmorphic features. Karyotype was normal in all three foetuses (46, XX) and comparative genomic hybridization microarray analysis detected no pathogenic copy number variants. Whole-exome sequencing and genome-wide homozygosity mapping revealed a previously reported frameshift mutation in the OBSL1 gene (c.1273insA p.T425nfsX40), consistent with a diagnosis of 3-M Syndrome 2 (OMIM #612921), which had not been anticipated from the clinical findings. Our study provides novel insight into the early clinical manifestations of this form of 3-M syndrome, and demonstrates the utility of whole exome sequencing as a tool for prenatal diagnosis in particular when there is a family history suggestive of a recurrent set of clinical symptoms.

Field study on the epidemiology and pathogenicity of different isolates of bovine Ostertagia spp.

PubMed

Al Saqur, I; Armour, J; Bairden, K; Dunn, A M; Jennings, F W; Murray, M

1982-11-01

The epidemiological features of three different isolates of bovine Ostertagia spp under similar initial levels of larval challenge were compared in the field. Two of the isolates, consisting mainly of Ostertagia ostertagi, and a low proportion of Skrjabinagia lyrata conformed in epidemiological behaviour with those investigated by previous workers, though the worm burdens which established did not give rise to the expected clinical signs. The third isolate behaved in a different way, yielding very high faecal egg counts which were followed by high pasture larval counts, heavy worm burdens and severe clinical disease. This isolate, while consisting mainly of O ostertagi and a few S lyrata, also contained a proportion of O leptospicularis, and it is suggested that this species may influence the dynamics of the host-parasite relationship in bovine ostertagiasis.

Lymphangiomatous Polyp of Tonsil: A Case Report.

PubMed

Sayar, Hamide; Sayar, Çağdaş; Adamhasan, Fulya; Uğuz, Aysun

2016-01-01

Lymphangiomatous polyps of the palatine tonsils are uncommon hamartomatous proliferations that could be clinically misdiagnosed as malignant neoplasms. These polyps consist of dilated lymphatic vessels located inside fibrous and/or adipose tissue. In this paper, a 27-year-old man who presented to the outpatient clinic with a complaint of dysphagia is presented. On physical examination, the patient had a smooth, polypoid mass extending from the posterior section of the right palatine tonsil into the oropharynx. The patient underwent right tonsillectomy. Histopathological examination of the specimen showed typical features of a lymphangiomatous polyp of the tonsil. The case is reported with the accompanying literature to avoid the possibility of misdiagnosing it as a malignant lesion clinically.

Classification of optical coherence tomography images for diagnosing different ocular diseases

NASA Astrophysics Data System (ADS)

Gholami, Peyman; Sheikh Hassani, Mohsen; Kuppuswamy Parthasarathy, Mohana; Zelek, John S.; Lakshminarayanan, Vasudevan

2018-03-01

Optical Coherence tomography (OCT) images provide several indicators, e.g., the shape and the thickness of different retinal layers, which can be used for various clinical and non-clinical purposes. We propose an automated classification method to identify different ocular diseases, based on the local binary pattern features. The database consists of normal and diseased human eye SD-OCT images. We use a multiphase approach for building our classifier, including preprocessing, Meta learning, and active learning. Pre-processing is applied to the data to handle missing features from images and replace them with the mean or median of the corresponding feature. All the features are run through a Correlation-based Feature Subset Selection algorithm to detect the most informative features and omit the less informative ones. A Meta learning approach is applied to the data, in which a SVM and random forest are combined to obtain a more robust classifier. Active learning is also applied to strengthen our classifier around the decision boundary. The primary experimental results indicate that our method is able to differentiate between the normal and non-normal retina with an area under the ROC curve (AUC) of 98.6% and also to diagnose the three common retina-related diseases, i.e., Age-related Macular Degeneration, Diabetic Retinopathy, and Macular Hole, with an AUC of 100%, 95% and 83.8% respectively. These results indicate a better performance of the proposed method compared to most of the previous works in the literature.

AAEM case report #26: seventh cranial neuropathy.

PubMed

Gilchrist, J M

1993-05-01

A 25-year-old man with acute, bilateral facial palsies is presented. He had a lymphocytic meningitis, history of tick bites, and lived in an area endemic for Lyme disease, which was ultimately confirmed by serology. Electrodiagnostic investigation included facial motor nerve study, blink reflex and electromyography of facial muscles, which were indicative of a neurapraxic lesion on the right and an axonopathic lesion on the left. The clinical course was consistent with these findings as the right side fully recovered and the left remained plegic. The clinical features of Lyme associated facial neuritis are reviewed, as is the electrodiagnostic evaluation of facial palsy.

Assessment of Correlation between Sweat Chloride Levels and Clinical Features of Cystic Fibrosis Patients.

PubMed

Raina, Manzoor A; Khan, Mosin S; Malik, Showkat A; Raina, Ab Hameed; Makhdoomi, Mudassir J; Bhat, Javed I; Mudassar, Syed

2016-12-01

Cystic Fibrosis (CF) is an autosomal recessive disorder and the incidence of this disease is undermined in Northern India. The distinguishable salty character of the sweat belonging to individuals suffering from CF makes sweat chloride estimation essential for diagnosis of CF disease. The aim of this prospective study was to elucidate the relationship of sweat chloride levels with clinical features and pattern of CF. A total of 182 patients, with clinical features of CF were included in this study for quantitative measurement of sweat chloride. Sweat stimulation and collection involved pilocarpine iontophoresis based on the Gibson and Cooks methodology. The quantitative estimation of chloride was done by Schales and Schales method with some modifications. Cystic Fibrosis Trans Membrane Conductance Regulator (CFTR) mutation status was recorded in case of patients with borderline sweat chloride levels to correlate the results and for follow-up. Out of 182 patients having clinical features consistent with CF, borderline and elevated sweat chloride levels were present in 9 (5%) and 41 (22.5%) subjects respectively. Elevated sweat chloride levels were significantly associated with wheeze, Failure To Thrive (FTT), history of CF in Siblings, product of Consanguineous Marriage (CM), digital clubbing and steatorrhoea on univariate analysis. On multivariate analysis only wheeze, FTT and steatorrhoea were found to be significantly associated with elevated sweat chloride levels (p<0.05). Among the nine borderline cases six cases were positive for at least two CFTR mutations and rest of the three cases were not having any mutation in CFTR gene. The diagnosis is often delayed and the disease is advanced in most patients at the time of diagnosis. Sweat testing is a gold standard for diagnosis of CF patients as genetic mutation profile being heterozygous and unlikely to become diagnostic test.

Research training in integrative medicine: how can we make teaching and learning in research methods more sustainable and engaging?

PubMed

Witt, Claudia M; Withers, Shelly Rafferty

2013-01-01

The aim of this project was to identify strategies for increasing learner engagement and knowledge retention in clinical research training of complementary and integrative medicine (CIM) practitioners, and to offer a conceptual framework to address clinical research training for CIM practitioners. In a featured large-group discussion (15min presentation and 30min discussion), two questions (strategies that are recommended to overcome these barriers; relevant aspects for a framework for building sustainable knowledge) were put to the audience. The sample consisted of 43 participants at the International Congress of Educators in Complementary and Alternative Medicine, in Washington, DC, in October 2012. The featured discussion was moderated and detailed notes were taken. Notes were synthesized and discussed by both authors until consensus was reached. Based on the results from the featured discussion session and a focused literature search, a framework for building sustainable knowledge and skills in clinical research for CIM practitioners was developed. Participants' responses to the questions of engagement and sustainability included curricular structures, pedagogical strategies for instruction, the use of digital tools to extend the learning experience, the necessity to ground instruction firmly in the medical literature of the field, and the relevance of mentoring. Key considerations for building sustainable knowledge in clinical research for CIM practitioners are as follows: (1) prioritizing clinical research training, (2) issues of curriculum and pedagogy, (3) technology/digital tools, (4) administrative challenges, (5) supporting the formation of communities of practice, and (6) cultural perspectives of CIM practitioners. © 2013 Elsevier Inc. All rights reserved.

Hypochondriasis as an early manifestation of dementia with Lewy bodies: an autopsied case report.

PubMed

Fujishiro, Hiroshige; Iritani, Shuji; Sekiguchi, Hirotaka; Habuchi, Chikako; Torii, Youta; Matsunaga, Shinji; Ozaki, Norio; Yoshida, Mari; Fujita, Kiyoshi

2016-03-01

Discrepancies between clinical and pathological diagnoses of dementia with Lewy bodies (DLB) may occur because the full disease progression remains unclear, especially during the early stage. Herein, we report the case of a 78-year-old Japanese man with hypochondriasis who had autopsy-confirmed limbic-type DLB pathology. He exhibited no core clinical features of DLB. We attempted to identify the clinicopathological correlations in the early stages of DLB. At the age of 77, he became hypochondriacal and exhibited progressive cognitive decline after the death of his wife. He was concerned about his poor physical condition, but hospital examinations did not identify any overtly abnormal findings. At 78 years of age, he consulted a neurologist with complaints of facial numbness and irritability. Neurological examination revealed no overt abnormality, and he scored 21 points on the Mini-Mental State Examination. Magnetic resonance imaging of the brain showed mild bilateral ventricular enlargement. The patient was clinically diagnosed as having possible Alzheimer's disease. Approximately 1 month after his consult, he died of acute pneumonia in a psychiatric hospital to which he had been admitted for severe aggressive behaviour. He exhibited no core clinical features pointing towards a clinical diagnosis of DLB. Neuropathological investigation revealed limbic-type Lewy body disease with concurrent minimum Alzheimer-type pathology, which corresponds to high-likelihood DLB pathology based on the Third Consortium DLB pathological criteria. The patient had minimum nigral degeneration, which is consistent with the absence of parkinsonism. This autopsied case suggests that some DLB patients exhibit hypochondriasis in the early stage of the disease, even if they lack the core clinical features of DLB. © 2015 The Authors. Psychogeriatrics © 2015 Japanese Psychogeriatric Society.

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.

PubMed

Coulter, Tanya I; Chandra, Anita; Bacon, Chris M; Babar, Judith; Curtis, James; Screaton, Nick; Goodlad, John R; Farmer, George; Steele, Cathal Laurence; Leahy, Timothy Ronan; Doffinger, Rainer; Baxendale, Helen; Bernatoniene, Jolanta; Edgar, J David M; Longhurst, Hilary J; Ehl, Stephan; Speckmann, Carsten; Grimbacher, Bodo; Sediva, Anna; Milota, Tomas; Faust, Saul N; Williams, Anthony P; Hayman, Grant; Kucuk, Zeynep Yesim; Hague, Rosie; French, Paul; Brooker, Richard; Forsyth, Peter; Herriot, Richard; Cancrini, Caterina; Palma, Paolo; Ariganello, Paola; Conlon, Niall; Feighery, Conleth; Gavin, Patrick J; Jones, Alison; Imai, Kohsuke; Ibrahim, Mohammad A A; Markelj, Gašper; Abinun, Mario; Rieux-Laucat, Frédéric; Latour, Sylvain; Pellier, Isabelle; Fischer, Alain; Touzot, Fabien; Casanova, Jean-Laurent; Durandy, Anne; Burns, Siobhan O; Savic, Sinisa; Kumararatne, D S; Moshous, Despina; Kracker, Sven; Vanhaesebroeck, Bart; Okkenhaug, Klaus; Picard, Capucine; Nejentsev, Sergey; Condliffe, Alison M; Cant, Andrew James

2017-02-01

Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene encoding the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ). We sought to review the clinical, immunologic, histopathologic, and radiologic features of APDS in a large genetically defined international cohort. We applied a clinical questionnaire and performed review of medical notes, radiology, histopathology, and laboratory investigations of 53 patients with APDS. Recurrent sinopulmonary infections (98%) and nonneoplastic lymphoproliferation (75%) were common, often from childhood. Other significant complications included herpesvirus infections (49%), autoinflammatory disease (34%), and lymphoma (13%). Unexpectedly, neurodevelopmental delay occurred in 19% of the cohort, suggesting a role for PI3Kδ in the central nervous system; consistent with this, PI3Kδ is broadly expressed in the developing murine central nervous system. Thoracic imaging revealed high rates of mosaic attenuation (90%) and bronchiectasis (60%). Increased IgM levels (78%), IgG deficiency (43%), and CD4 lymphopenia (84%) were significant immunologic features. No immunologic marker reliably predicted clinical severity, which ranged from asymptomatic to death in early childhood. The majority of patients received immunoglobulin replacement and antibiotic prophylaxis, and 5 patients underwent hematopoietic stem cell transplantation. Five patients died from complications of APDS. APDS is a combined immunodeficiency with multiple clinical manifestations, many with incomplete penetrance and others with variable expressivity. The severity of complications in some patients supports consideration of hematopoietic stem cell transplantation for severe childhood disease. Clinical trials of selective PI3Kδ inhibitors offer new prospects for APDS treatment. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

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.

[How to improve the management of heart failure by the general practitioner?].

PubMed

Vandenbossche, J L

2012-09-01

Current treatment of heart failure remains suboptimally implemented, leading to less favorable outcome. Readmission due to decompensation, remains frequent, in about 20% of patients at one month and 50% at six months. Precipitating factors of deterioration are known, including inappropriate drug interactions, and the early detection can be facilitated by simple clinical features (weight, heart rate, dyspnea) that can be confirmed by biomarkers (BNP, Nt-ProBNP). Medical treatment relies upon the proper use of drugs that have been demonstrated efficacious in the randomized clinical trials, and have been proposed in the international clinical guidelines. The basic principle of their titration consists on a gradual increase of the dosage, up to the target dosages, or maximal clinically tolerated dosages. Particular attention shall be paid to renal function and kaliemia, besides clinical parameters; close monitoring is mandatory along the treatment.

The Importance of Clinical Phenotype in Understanding and Preventing Spontaneous Preterm Birth.

PubMed

Esplin, M Sean

2016-02-01

Spontaneous preterm birth (SPTB) is a well-known cause of maternal and neonatal morbidity. The search for the underlying pathways, documentation of the genetic causes, and identification of markers of spontaneous PTB have been marginally successful due to the fact that it is highly complex, with numerous processes that lead to a final common pathway. There is a great need for a comprehensive, consistent, and uniform classification system, which will be useful in identifying mechanisms, assigning prognosis, aiding in clinical management, and can identify areas of interest for intervention and future study. Effective classification systems must overcome obstacles including the lack of widely accepted definitions and uncertainty about inclusion of classifying features (e.g., presentation at delivery and multiple gestations) and levels of detail of these features. The optimal classification system should be based on the clinical phenotype, including characteristics of the mother, fetus, placenta, and the presentation for delivery. We present a proposed phenotyping system for spontaneous PTB. Future classification systems must establish a universally accepted set of definitions and a standardized clinical workup for all PTBs including the minimum clinical data to be collected and the laboratory and pathologic evaluation that should be completed. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Incidence, clinical correlates and treatment effect of rage in anxious children.

PubMed

Johnco, Carly; Salloum, Alison; De Nadai, Alessandro S; McBride, Nicole; Crawford, Erika A; Lewin, Adam B; Storch, Eric A

2015-09-30

Episodic rage represents an important and underappreciated clinical feature in pediatric anxiety. This study examined the incidence and clinical correlates of rage in children with anxiety disorders. Change in rage during treatment for anxiety was also examined. Participants consisted of 107 children diagnosed with an anxiety disorder and their parents. Participants completed structured clinical interviews and questionnaire measures to assess rage, anxiety, functional impairment, family accommodation and caregiver strain, as well as the quality of the child's relationship with family and peers. Rage was a common feature amongst children with anxiety disorders. Rage was associated with a more severe clinical profile, including increased anxiety severity, functional impairment, family accommodation and caregiver strain, as well as poorer relationships with parents, siblings, extended family and peers. Rage was more common in children with separation anxiety, comorbid anxiety, attention deficit/hyperactivity disorder and behavioral disorders, but not depressive symptoms. Rage predicted higher levels of functional impairment, beyond the effect of anxiety severity. Rage severity reduced over treatment in line with changes in anxiety symptoms. Findings suggest that rage is a marker of greater psychopathology in anxious youth. Standard cognitive behavioral treatment for anxiety appears to reduce rage without adjunctive treatment. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Beyond the tip of the iceberg: Adolescent weight development of women and men with features of binge eating disorder.

PubMed

Mustelin, Linda; Kaprio, Jaakko; Keski-Rahkonen, Anna

2018-06-14

Binge eating disorder (BED) is a clinical eating disorder that is strongly and bidirectionally related to overweight and obesity. Little is known about how subclinical features of BED relate to weight development in adolescence and young adulthood. Women (n = 2825) and men (n = 2423) from the community-based longitudinal FinnTwin16 cohort participated. Seven eating-related cognitions and behaviors similar to the defining features of BED were extracted from the Eating Disorder Inventory-2 and were assessed at a mean age of 24. We used linear mixed models to assess the association of features of BED with BMI trajectories across four waves of data collection (mean ages 16, 17, 18, and 24). The number of features of BED at wave 4 (age 24) was significantly associated with BMI from age 16 years onwards. Those reporting more features of BED had gained more weight throughout adolescence and into their twenties. Features of BED in young adulthood were preceded by steeper BMI trajectories in adolescence. A higher number of features were consistently associated with higher BMI and more weight gain. Copyright © 2018 Elsevier Ltd. 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.

Differentiation of Glioblastoma and Lymphoma Using Feature Extraction and Support Vector Machine.

PubMed

Yang, Zhangjing; Feng, Piaopiao; Wen, Tian; Wan, Minghua; Hong, Xunning

2017-01-01

Differentiation of glioblastoma multiformes (GBMs) and lymphomas using multi-sequence magnetic resonance imaging (MRI) is an important task that is valuable for treatment planning. However, this task is a challenge because GBMs and lymphomas may have a similar appearance in MRI images. This similarity may lead to misclassification and could affect the treatment results. In this paper, we propose a semi-automatic method based on multi-sequence MRI to differentiate these two types of brain tumors. Our method consists of three steps: 1) the key slice is selected from 3D MRIs and region of interests (ROIs) are drawn around the tumor region; 2) different features are extracted based on prior clinical knowledge and validated using a t-test; and 3) features that are helpful for classification are used to build an original feature vector and a support vector machine is applied to perform classification. In total, 58 GBM cases and 37 lymphoma cases are used to validate our method. A leave-one-out crossvalidation strategy is adopted in our experiments. The global accuracy of our method was determined as 96.84%, which indicates that our method is effective for the differentiation of GBM and lymphoma and can be applied in clinical diagnosis. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

PubMed

Imagawa, Eri; Fattal-Valevski, Aviva; Eyal, Ori; Miyatake, Satoko; Saada, Ann; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Miyake, Noriko; Matsumoto, Naomichi

2016-02-01

Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder associated with mitochondrial dysfunction. LS is characterised by elevated lactate and pyruvate and bilateral symmetric hyperintense lesions in the basal ganglia, thalamus, brainstem, cerebral white matter or spinal cord on T2-weighted MRI. LS is a genetically heterogeneous disease, and to date mutations in approximately 40 genes related to mitochondrial function have been linked to the disorder. We investigated a pair of female monozygotic twins diagnosed with LS from consanguineous healthy parents of Indian origin. Their common clinical features included optic atrophy, ophthalmoplegia, spastic paraparesis and mild intellectual disability. High-blood lactate and high-intensity signal in the brainstem on T2-weighted MRI were consistent with a clinical diagnosis of LS. To identify the genetic cause of their condition, we performed whole exome sequencing. We identified a homozygous nonsense mutation in C12orf65 (NM_001143905; c.346delG, p.V116*) in the affected twins. Interestingly, the identical mutation was previously reported in an Indian family with Charcot-Marie Tooth disease type 6, which displayed some overlapping clinical features with the twins. We demonstrate that the identical nonsense mutation in C12orf65 can result in different clinical features, suggesting the involvement of unknown modifiers. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Disaccharidase Deficiencies in Children With Chronic Abdominal Pain.

PubMed

El-Chammas, Khalil; Williams, Sara E; Miranda, Adrian

2017-03-01

Carbohydrate intolerance or malabsorption has been suggested as a cause of chronic abdominal pain (CAP) in a subset of patients. We aimed to evaluate disaccharidase deficiencies in children with functional CAP and to correlate deficiencies with clinical features. Patients presenting to the gastroenterology clinic at Children's Hospital of Wisconsin with abdominal pain prospectively completed a detailed demographic, history, and symptom questionnaire. The CAP cohort included those with at least 1 month of symptoms. Data on disaccharidase activity and histology of endoscopic biopsies were collected retrospectively. Only patients with normal histology were included in the study. The association between groups with low disaccharidases and clinical features was examined. A total of 203 pediatric patients with CAP were included. The mean (SD) age was 11.5 (3.1) years, and 32.5% were male. The percentages of abnormally low disaccharidase levels using the standard laboratory cutoffs were lactase, 37%; sucrase, 21%; glucoamylase, 25%; and palatinase, 8%. Thirty-nine percent of the patients with low lactase also had low sucrase, and 67% of the patients with low sucrase had low lactase. There was no significant difference in the activities of any of the disaccharidases or sucrase/lactase ratio in relation to age. Also, no association was found between stool consistency, stool frequency, or location of pain and low disaccharidase activity. A large proportion of patients with CAP have deficiencies in disaccharidases. Bowel frequency, vomiting, or location of pain was no different between groups, suggesting that these clinical features cannot be used to predict disaccharidase deficiencies.

A three-dimensional comparison of a morphometric and conventional cephalometric midsagittal planes for craniofacial asymmetry.

PubMed

Damstra, Janalt; Fourie, Zacharias; De Wit, Marnix; Ren, Yijin

2012-02-01

Morphometric methods are used in biology to study object symmetry in living organisms and to determine the true plane of symmetry. The aim of this study was to determine if there are clinical differences between three-dimensional (3D) cephalometric midsagittal planes used to describe craniofacial asymmetry and a true symmetry plane derived from a morphometric method based on visible facial features. The sample consisted of 14 dry skulls (9 symmetric and 5 asymmetric) with metallic markers which were imaged with cone-beam computed tomography. An error study and statistical analysis were performed to validate the morphometric method. The morphometric and conventional cephalometric planes were constructed and compared. The 3D cephalometric planes constructed as perpendiculars to the Frankfort horizontal plane resembled the morphometric plane the most in both the symmetric and asymmetric groups with mean differences of less than 1.00 mm for most variables. However, the standard deviations were often large and clinically significant for these variables. There were clinically relevant differences (>1.00 mm) between the different 3D cephalometric midsagittal planes and the true plane of symmetry determined by the visible facial features. The difference between 3D cephalometric midsagittal planes and the true plane of symmetry determined by the visible facial features were clinically relevant. Care has to be taken using cephalometric midsagittal planes for diagnosis and treatment planning of craniofacial asymmetry as they might differ from the true plane of symmetry as determined by morphometrics.

Phenomenology and classification of dystonia: a consensus update

PubMed Central

Albanese, Alberto; Bhatia, Kailash; Bressman, Susan B.; DeLong, Mahlon R.; Fahn, Stanley; Fung, Victor S.C.; Hallett, Mark; Jankovic, Joseph; Jinnah, H.A.; Klein, Christine; Lang, Anthony E.; Mink, Jonathan W.; Teller, Jan K.

2013-01-01

This report describes the consensus outcome of an international panel consisting of investigators with years of experience in this field that reviewed the definition and classification of dystonia. Agreement was obtained based on a consensus development methodology during three in-person meetings and manuscript review by mail. Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. Dystonia is classified along two axes: clinical characteristics, including age at onset, body distribution, temporal pattern and associated features (additional movement disorders or neurological features), and etiology, which includes nervous system pathology and inheritance. The clinical characteristics fall into several specific dystonia syndromes that help to guide diagnosis and treatment. We provide here a new general definition of dystonia and propose a new classification. We encourage clinicians and researchers to use these innovative definition and classification and test them in the clinical setting on a variety of patients with dystonia. PMID:23649720

3D facial expression recognition using maximum relevance minimum redundancy geometrical features

NASA Astrophysics Data System (ADS)

Rabiu, Habibu; Saripan, M. Iqbal; Mashohor, Syamsiah; Marhaban, Mohd Hamiruce

2012-12-01

In recent years, facial expression recognition (FER) has become an attractive research area, which besides the fundamental challenges, it poses, finds application in areas, such as human-computer interaction, clinical psychology, lie detection, pain assessment, and neurology. Generally the approaches to FER consist of three main steps: face detection, feature extraction and expression recognition. The recognition accuracy of FER hinges immensely on the relevance of the selected features in representing the target expressions. In this article, we present a person and gender independent 3D facial expression recognition method, using maximum relevance minimum redundancy geometrical features. The aim is to detect a compact set of features that sufficiently represents the most discriminative features between the target classes. Multi-class one-against-one SVM classifier was employed to recognize the seven facial expressions; neutral, happy, sad, angry, fear, disgust, and surprise. The average recognition accuracy of 92.2% was recorded. Furthermore, inter database homogeneity was investigated between two independent databases the BU-3DFE and UPM-3DFE the results showed a strong homogeneity between the two databases.

Comparison of psychotic bipolar disorder, schizoaffective disorder, and schizophrenia: an international, multisite study.

PubMed

Tondo, L; Vázquez, G H; Baethge, C; Baronessa, C; Bolzani, L; Koukopoulos, A; Mazzarini, L; Murru, A; Pacchiarotti, I; Pinna, M; Salvatore, P; Sani, G; Selle, V; Spalletta, G; Girardi, P; Tohen, M; Vieta, E; Baldessarini, R J

2016-01-01

Nosological distinctions among schizoaffective disorder (SA), bipolar I disorder with psychotic features (BDp), and schizophrenia (SZ) remain unresolved. We compared 2269 subjects with psychotic features in DSM-IV-TR diagnoses (1435 BDp, 463 SZ, 371 SA) from 8 collaborating international sites, by 12 sociodemographic and clinical measures, all between diagnostic pairs. In bivariate comparisons, SA was consistently intermediate between BDp and SZ for 11/12 features (except onset stressors), and SZ vs. BDp differed in all 12 factors. SA differed from both BDp and SZ in 9/12 factors: SA and BDp were similar in education and suicidal ideation or acts; SA and SZ were similar in education, onset stressors, and substance abuse. Meta-analytic comparisons of diagnostic pairs for 10 categorical factors indicated similar differences of SA from both SZ and BDp. Multivariate modeling indicated significantly independent differences between BDp and SZ (8 factors), SA vs. SZ (5), and BDp vs. SA (3). Measurement variance was similar for all diagnoses. SA was consistently intermediate between BDp and SZ. The three diagnostic groups ranked: BDp > SA > SZ related to lesser morbidity or disability. The findings are not consistent with a dyadic Kraepelinian categorization, although the considerable overlap among the three DSM-IV diagnostic groups indicates uncertain boundaries if they represent distinct disorders. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Spinal epidural abscess due to Aspergillus infection of the vertebrae: report of 3 cases.

PubMed

Dubbeld, P; van Oostenbrugge, R J; Twinjstra, A; Schouten, H C

1996-01-01

Aspergillus infection of the vertebral bodies and intervertebral disc spaces with consequent formation of a spinal epidural abscess was diagnosed in 3 patients with acute leukaemia. Medical therapy consisted of high-dose amphotericin-B with good local control of disease in one patient. The second patient underwent surgical drainage. The third patient had stabilisation of the disease. The clinical features, diagnosis and treatment are discussed.

Model-Based Comparison of Deep Brain Stimulation Array Functionality with Varying Number of Radial Electrodes and Machine Learning Feature Sets.

PubMed

Teplitzky, Benjamin A; Zitella, Laura M; Xiao, YiZi; Johnson, Matthew D

2016-01-01

Deep brain stimulation (DBS) leads with radially distributed electrodes have potential to improve clinical outcomes through more selective targeting of pathways and networks within the brain. However, increasing the number of electrodes on clinical DBS leads by replacing conventional cylindrical shell electrodes with radially distributed electrodes raises practical design and stimulation programming challenges. We used computational modeling to investigate: (1) how the number of radial electrodes impact the ability to steer, shift, and sculpt a region of neural activation (RoA), and (2) which RoA features are best used in combination with machine learning classifiers to predict programming settings to target a particular area near the lead. Stimulation configurations were modeled using 27 lead designs with one to nine radially distributed electrodes. The computational modeling framework consisted of a three-dimensional finite element tissue conductance model in combination with a multi-compartment biophysical axon model. For each lead design, two-dimensional threshold-dependent RoAs were calculated from the computational modeling results. The models showed more radial electrodes enabled finer resolution RoA steering; however, stimulation amplitude, and therefore spatial extent of the RoA, was limited by charge injection and charge storage capacity constraints due to the small electrode surface area for leads with more than four radially distributed electrodes. RoA shifting resolution was improved by the addition of radial electrodes when using uniform multi-cathode stimulation, but non-uniform multi-cathode stimulation produced equivalent or better resolution shifting without increasing the number of radial electrodes. Robust machine learning classification of 15 monopolar stimulation configurations was achieved using as few as three geometric features describing a RoA. The results of this study indicate that, for a clinical-scale DBS lead, more than four radial electrodes minimally improved in the ability to steer, shift, and sculpt axonal activation around a DBS lead and a simple feature set consisting of the RoA center of mass and orientation enabled robust machine learning classification. These results provide important design constraints for future development of high-density DBS arrays.

Model-Based Comparison of Deep Brain Stimulation Array Functionality with Varying Number of Radial Electrodes and Machine Learning Feature Sets

PubMed Central

Teplitzky, Benjamin A.; Zitella, Laura M.; Xiao, YiZi; Johnson, Matthew D.

2016-01-01

Deep brain stimulation (DBS) leads with radially distributed electrodes have potential to improve clinical outcomes through more selective targeting of pathways and networks within the brain. However, increasing the number of electrodes on clinical DBS leads by replacing conventional cylindrical shell electrodes with radially distributed electrodes raises practical design and stimulation programming challenges. We used computational modeling to investigate: (1) how the number of radial electrodes impact the ability to steer, shift, and sculpt a region of neural activation (RoA), and (2) which RoA features are best used in combination with machine learning classifiers to predict programming settings to target a particular area near the lead. Stimulation configurations were modeled using 27 lead designs with one to nine radially distributed electrodes. The computational modeling framework consisted of a three-dimensional finite element tissue conductance model in combination with a multi-compartment biophysical axon model. For each lead design, two-dimensional threshold-dependent RoAs were calculated from the computational modeling results. The models showed more radial electrodes enabled finer resolution RoA steering; however, stimulation amplitude, and therefore spatial extent of the RoA, was limited by charge injection and charge storage capacity constraints due to the small electrode surface area for leads with more than four radially distributed electrodes. RoA shifting resolution was improved by the addition of radial electrodes when using uniform multi-cathode stimulation, but non-uniform multi-cathode stimulation produced equivalent or better resolution shifting without increasing the number of radial electrodes. Robust machine learning classification of 15 monopolar stimulation configurations was achieved using as few as three geometric features describing a RoA. The results of this study indicate that, for a clinical-scale DBS lead, more than four radial electrodes minimally improved in the ability to steer, shift, and sculpt axonal activation around a DBS lead and a simple feature set consisting of the RoA center of mass and orientation enabled robust machine learning classification. These results provide important design constraints for future development of high-density DBS arrays. PMID:27375470

Optimization of breast mass classification using sequential forward floating selection (SFFS) and a support vector machine (SVM) model

PubMed Central

Tan, Maxine; Pu, Jiantao; Zheng, Bin

2014-01-01

Purpose: Improving radiologists’ performance in classification between malignant and benign breast lesions is important to increase cancer detection sensitivity and reduce false-positive recalls. For this purpose, developing computer-aided diagnosis (CAD) schemes has been attracting research interest in recent years. In this study, we investigated a new feature selection method for the task of breast mass classification. Methods: We initially computed 181 image features based on mass shape, spiculation, contrast, presence of fat or calcifications, texture, isodensity, and other morphological features. From this large image feature pool, we used a sequential forward floating selection (SFFS)-based feature selection method to select relevant features, and analyzed their performance using a support vector machine (SVM) model trained for the classification task. On a database of 600 benign and 600 malignant mass regions of interest (ROIs), we performed the study using a ten-fold cross-validation method. Feature selection and optimization of the SVM parameters were conducted on the training subsets only. Results: The area under the receiver operating characteristic curve (AUC) = 0.805±0.012 was obtained for the classification task. The results also showed that the most frequently-selected features by the SFFS-based algorithm in 10-fold iterations were those related to mass shape, isodensity and presence of fat, which are consistent with the image features frequently used by radiologists in the clinical environment for mass classification. The study also indicated that accurately computing mass spiculation features from the projection mammograms was difficult, and failed to perform well for the mass classification task due to tissue overlap within the benign mass regions. Conclusions: In conclusion, this comprehensive feature analysis study provided new and valuable information for optimizing computerized mass classification schemes that may have potential to be useful as a “second reader” in future clinical practice. PMID:24664267

Clinical features of progressive vacuolar hepatopathy in Scottish Terriers with and without hepatocellular carcinoma: 114 cases (1980-2013).

PubMed

Cortright, Catherine C; Center, Sharon A; Randolph, John F; McDonough, Sean P; Fecteau, Kellie A; Warner, Karen L; Chiapella, Ann M; Pierce, Rhonda L; Graham, A Heather; Wall, Linda J; Heidgerd, John H; Degen, Melisa A; Lucia, Patricia A; Erb, Hollis N

2014-10-01

To characterize signalment, clinical features, clinicopathologic variables, hepatic ultrasonographic characteristics, endocrinologic profiles, treatment response, and age at death of Scottish Terriers with progressive vacuolar hepatopathy (VH) with or without hepatocellular carcinoma (HCC). Retrospective case series. 114 Scottish Terriers with progressive VH. Electronic databases from 1980 to 2013 were searched for adult (age > 1 year) Scottish Terriers with histopathologic diagnoses of diffuse glycogen-like VH. Available sections of liver specimens were histologically reevaluated to confirm diffuse VH with or without HCC; 8 dogs with HCC only had neoplastic tissue available. Physical examination, clinicopathologic, treatment, and survival data were obtained. 39 of 114 (34%) dogs with VH had HCC detected at surgery or necropsy or by abdominal ultrasonography. Histologic findings indicated that HCC was seemingly preceded by dysplastic hepatocellular foci. No significant differences were found in clinicopathologic variables or age at death between VH-affected dogs with or without HCC. Fifteen of 26 (58%) dogs with high hepatic copper concentrations had histologic features consistent with copper-associated hepatopathy. Although signs consistent with hyperadrenocorticism were observed in 40% (46/114) of dogs, definitive diagnosis was inconsistently confirmed. Assessment of adrenal sex hormone concentrations before and after ACTH administration identified high progesterone and androstenedione concentrations in 88% (22/25) and 80% (20/25) of tested dogs, respectively. Results suggested that VH in Scottish Terriers may be linked to adrenal steroidogenesis and a predisposition to HCC. In dogs with VH, frequent serum biochemical analysis and ultrasonographic surveillance for early tumor detection are recommended.

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.

Cutaneous involvement in multiple myeloma (MM): A case series with clinicopathologic correlation.

PubMed

Malysz, Jozef; Talamo, Giampaolo; Zhu, Junjia; Clarke, Loren E; Bayerl, Michael G; Ali, Liaqat; Helm, Klaus F; Chung, Catherine G

2016-05-01

Disease-specific skin lesions are rare in patients with multiple myeloma (MM). We sought to further characterize the clinical and pathologic features of patients with cutaneous involvement with MM. We identified 13 patients with cutaneous lesions of MM. Cutaneous lesions consisted of pink, red, and violaceous papules, nodules, and/or plaques that varied in size. Histopathology revealed atypical plasma cells with occasional plasmablastic features. MM had aggressive biologic features and was at an advanced stage in the majority of patients. Despite aggressive management, including chemotherapy and stem-cell transplantation, most patients died of progressive disease within a few months after the development of cutaneous lesions. The study group was relatively small. Cutaneous involvement with MM is associated with aggressive biologic behavior and short survival. Copyright © 2015 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

Within- and between-session replicability of cognitive brain processes: An MEG study with an N-back task.

PubMed

Ahonen, L; Huotilainen, M; Brattico, E

2016-05-01

In the vast majority of electrophysiological studies on cognition, participants are only measured once during a single experimental session. The dearth of studies on test-retest reliability in magnetoencephalography (MEG) within and across experimental sessions is a preventing factor for longitudinal designs, imaging genetics studies, and clinical applications. From the recorded signals, it is not straightforward to draw robust and steady indices of brain activity that could directly be used in exploring behavioral effects or genetic associations. To study the variations in markers associated with cognitive functions, we extracted three event-related field (ERF) features from time-locked global field power (GFP) epochs using MEG while participants were performing a numerical N-back task in four consecutive measurements conducted during two different days separated by two weeks. We demonstrate that the latency of the M170, a neural correlate associated with cognitive functions such as working memory, was a stable parameter and did not show significant variations over time. In addition, the M170 peak amplitude and the mean amplitude of late positive component (LPP) also expressed moderate-to-strong reliability across multiple measures over time over many sensor spaces and between participants. The M170 amplitude varied more significantly between the measurements in some conditions but showed consistency over the participants over time. In addition we demonstrated significant correlation with the M170 and LPP parameters and cognitive load. The results are in line with the literature showing less within-subject fluctuation for the latency parameters and more consistency in between-subject comparisons for amplitude based features. The within-subject consistency was apparent also with longer delays between the measurements. We suggest that with a few limitations the ERF features show sufficient reliability and stability for longitudinal research designs and clinical applications for cognitive functions in single as well as cross-subject designs. Copyright © 2016 Elsevier Inc. All rights reserved.

Deep 3D Convolutional Encoder Networks With Shortcuts for Multiscale Feature Integration Applied to Multiple Sclerosis Lesion Segmentation.

PubMed

Brosch, Tom; Tang, Lisa Y W; Youngjin Yoo; Li, David K B; Traboulsee, Anthony; Tam, Roger

2016-05-01

We propose a novel segmentation approach based on deep 3D convolutional encoder networks with shortcut connections and apply it to the segmentation of multiple sclerosis (MS) lesions in magnetic resonance images. Our model is a neural network that consists of two interconnected pathways, a convolutional pathway, which learns increasingly more abstract and higher-level image features, and a deconvolutional pathway, which predicts the final segmentation at the voxel level. The joint training of the feature extraction and prediction pathways allows for the automatic learning of features at different scales that are optimized for accuracy for any given combination of image types and segmentation task. In addition, shortcut connections between the two pathways allow high- and low-level features to be integrated, which enables the segmentation of lesions across a wide range of sizes. We have evaluated our method on two publicly available data sets (MICCAI 2008 and ISBI 2015 challenges) with the results showing that our method performs comparably to the top-ranked state-of-the-art methods, even when only relatively small data sets are available for training. In addition, we have compared our method with five freely available and widely used MS lesion segmentation methods (EMS, LST-LPA, LST-LGA, Lesion-TOADS, and SLS) on a large data set from an MS clinical trial. The results show that our method consistently outperforms these other methods across a wide range of lesion sizes.

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.

Infective endocarditis in drug addicts: role of HIV infection and the diagnostic accuracy of Duke criteria.

PubMed

Cecchi, Enrico; Imazio, Massimo; Tidu, Massimo; Forno, Davide; De Rosa, Francesco Giuseppe; Dal Conte, Ivano; Preziosi, Costantina; Lipani, Filippo; Trinchero, Rita

2007-03-01

Intravenous drug users (IVDUs) are at increased risk of infective endocarditis. Moreover, HIV infection is common in IVDUs, with a reported prevalence of 40-90%. The clinical features of IVDUs with infective endocarditis and HIV infection may be peculiar. Few data have been reported on the diagnostic accuracy of Duke criteria in IVDUs with or without HIV infection, and a comparison of these two populations is lacking. The present study aimed to compare prospectively the clinical features of patients with infective endocarditis with or without HIV infection and to evaluate the diagnostic accuracy of Duke criteria in these patients. The study population consisted of 201 consecutive adult IVDUs with a suspected infective endocarditis (102 patients with HIV infection and 99 patients without HIV infection). Infective endocarditis was the final diagnosis in 40 of 102 patients (38.2%) with HIV infection and in 55 of 99 HIV-negative patients (55.6%). Despite similar baseline features, longer vegetations were recorded in infective endocarditis without HIV infection (23.7 +/- 7.1 mm versus 13.6 +/- 6.8 mm; P = 0.001). Patients with infective endocarditis and HIV infection had a higher total mortality at 2 months (respectively 12.5% versus 1.8%; P = 0.09); almost all the deaths were recorded in patients with AIDS or a CD4 cell count below 200 per microl, and no deaths were recorded in patients with HIV infection and a CD4 cell count > 500 per microl. Despite no identical clinical features, Duke criteria had a similar sensitivity, specificity and diagnostic accuracy in IVDUs with and without HIV infection.

Association Between Patient- Centered Medical Home Features and Satisfaction With Family Medicine Residency Training in the US.

PubMed

Carney, Patricia A; Waller, Elaine; Dexter, Eve; Marino, Miguel; Rosener, Stephanie E; Green, Larry A; Jones, Geoffrey; M Keister, J Drew; Dostal, Julie A; Jones, Samuel M; Eiff, M Patrice

2016-11-01

Primary care residencies are undergoing dramatic changes because of changing health care systems and evolving demands for updated training models. We examined the relationships between residents' exposures to patient-centered medical home (PCMH) features in their assigned continuity clinics and their satisfaction with training. Longitudinal surveys were collected annually from residents evaluating satisfaction with training using a 5-point Likert-type scale (1=very unsatisfied to 5=very satisfied) from 2007 through 2011, and the presence or absence of PCMH features were collected from 24 continuity clinics during the same time period. Odds ratios on residents' overall satisfaction were compared according to whether they had no exposure to PCMH features, some exposure (1-2 years), or full exposure (all 3 or more years). Fourteen programs and 690 unique residents provided data to this study. Resident satisfaction with training was highest with full exposure for integrated case management compared to no exposure, which occurred in 2010 (OR=2.85, 95% CI=1.40, 5.80). Resident satisfaction was consistently statistically lower with any or full exposure (versus none) to expanded clinic hours in 2007 and 2009 (eg, OR for some exposure in 2009 was 0.31 95% CI=0.19, 0.51, and OR for full exposure 0.28 95% CI=0.16, 0.49). Resident satisfaction for many electronic health record (EHR)-based features tended to be significantly lower with any exposure (some or full) versus no exposure over the study period. For example, the odds ratio for resident satisfaction was significantly lower with any exposure to electronic health records in continuity practice in 2008, 2009, and 2010 (OR for some exposure in 2008 was 0.36; 95% CI=0.19, 0.70, with comparable results in 2009, 2010). Resident satisfaction with training was inconsistently correlated with exposure to features of PCMH. No correlation between PCMH exposure and resident satisfaction was sustained over time.

Transvaginal ultrasound appearances of the ovary in normal women and hirsute women with oligomenorrhoea.

PubMed

Fox, R

1999-02-01

The transvaginal ultrasound appearances of the ovary were determined in women with clinical and endocrine features of polycystic ovarian disease (PCOD) and apparently normal women. At scan the number of small follicles were counted and ovarian volume was calculated. The maximum width of the ovarian cortex was also measured. Blood was sent for measurement of LH, FSH and testosterone. The women with oligomenorrhoea were scanned at random and the normal women were seen within the first 5 days of the start of menstruation. There were significant differences between median values for the 2 groups in terms of number of small follicles, ovarian volume and stromal width; the ovaries of the hirsute women had more follicles, were of larger volume, and had greater stromal width. The 2 ranges for number of follicles did overlap, however. Four hirsute oligomenorrhoeic women had a normal number of follicles; all 4 had the several clinical and endocrine features indicative of PCOD. These data suggest that the classical ultrasound features of PCOD are not consistently present and that the absence of increased follicularity at scan should not necessarily deter clinicians from making the functional diagnosis of PCOD.

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.

Inhaled Nitric Oxide in Acute Lung Disease.

DTIC Science & Technology

1995-01-01

play a pivotal and central cellular, NO. combines with the heme molecules role in many of the clinical manifestations of ARDS, it present in...blood flow to trate anion (NO3), and b) reaction with 02 to form poorly ventilated lung segments and further compro- nitrite anion (NO2) (23, 24). It...is the most consistent feature of creases in methemoglobin levels (Table 1). Plasma NO- therapy. Theoretically, inhaled NO. vasodilates nitrite levels

Psoriasiform keratosis - case report.

PubMed

Pires, Carla Andréa Avelar; Sousa, Brena Andrade de; Nascimento, Carla do Socorro Silva do; Moutinho, Ana Thais Machado; Miranda, Mario Fernando Ribeiro de; Carneiro, Francisca Regina Oliveira

2014-01-01

Psoriasiform Keratosis is a rare clinic entity. The etiopathogenesis remains unknown and the disease is characterized by a solitary, scaly or keratotic papule, or plaque mainly located on the extremities. Histopathological features closely resemble those of psoriasis. We report the case of a 70-year-old woman presenting a solitary and asymptomatic keratotic plaque, located on the back of the left leg, unresponsive to topical corticosteroids. We performed an excisional biopsy and histopathology was consistent with psoriasiform keratosis.

Equine recurrent uveitis: new methods of management.

PubMed

Gilger, Brian C; Michau, Tammy Miller

2004-08-01

Equine recurrent uveitis (ERU) is one of the most common causes of blindness in horses. Until recently, treatment of this condition consisted only of symptomatic therapy, typically with steroidal and nonsteroidal medications. A better understanding of the disease process(es) has permitted new medical and surgical therapies that have recently been described. This article highlights clinical features of ERU, the causes of ERU, and new management and treatment options for horses with ERU.

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.

Normalization of relative and incomplete temporal expressions in clinical narratives.

PubMed

Sun, Weiyi; Rumshisky, Anna; Uzuner, Ozlem

2015-09-01

To improve the normalization of relative and incomplete temporal expressions (RI-TIMEXes) in clinical narratives. We analyzed the RI-TIMEXes in temporally annotated corpora and propose two hypotheses regarding the normalization of RI-TIMEXes in the clinical narrative domain: the anchor point hypothesis and the anchor relation hypothesis. We annotated the RI-TIMEXes in three corpora to study the characteristics of RI-TMEXes in different domains. This informed the design of our RI-TIMEX normalization system for the clinical domain, which consists of an anchor point classifier, an anchor relation classifier, and a rule-based RI-TIMEX text span parser. We experimented with different feature sets and performed an error analysis for each system component. The annotation confirmed the hypotheses that we can simplify the RI-TIMEXes normalization task using two multi-label classifiers. Our system achieves anchor point classification, anchor relation classification, and rule-based parsing accuracy of 74.68%, 87.71%, and 57.2% (82.09% under relaxed matching criteria), respectively, on the held-out test set of the 2012 i2b2 temporal relation challenge. Experiments with feature sets reveal some interesting findings, such as: the verbal tense feature does not inform the anchor relation classification in clinical narratives as much as the tokens near the RI-TIMEX. Error analysis showed that underrepresented anchor point and anchor relation classes are difficult to detect. We formulate the RI-TIMEX normalization problem as a pair of multi-label classification problems. Considering only RI-TIMEX extraction and normalization, the system achieves statistically significant improvement over the RI-TIMEX results of the best systems in the 2012 i2b2 challenge. © The Author 2015. Published by Oxford University Press on behalf of the American Medical Informatics Association. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Traumatic asphyxia.

PubMed

Montes-Tapia, Fernando; Barreto-Arroyo, Itzel; Cura-Esquivel, Idalia; Rodríguez-Taméz, Antonio; de la O-Cavazos, Manuel

2014-02-01

Traumatic asphyxia is a rare condition in children that usually occurs after severe compression to the chest or abdomen. We report 3 cases in patients 18, 20, and 36 months of age who presented signs and symptoms of traumatic asphyxia after car accidents. Two clinical features were consistent in all 3 patients: multiple petechiae on the face and bulbar conjunctival hemorrhage; 2 patients had facial cyanosis, and 1 had facial edema.In children, the number of clinical manifestations that should be evident to diagnose traumatic asphyxia has not been ascertained. However, in any history of trauma with compression of the chest or abdomen and signs of increased intravenous craniocervical pressure, traumatic asphyxia should be suspected.

Magnetic resonance imaging of injuries to the ankle joint: can it predict clinical outcome?

PubMed

Zanetti, M; De Simoni, C; Wetz, H H; Zollinger, H; Hodler, J

1997-02-01

To predict clinical outcome after ankle sprains on the basis of magnetic resonance (MR) findings. Twenty-nine consecutive patients (mean age 32.9 years, range 13-60 years) were examined clinically and with MR imaging both after trauma and following standardized conservative therapy. Various MR abnormalities were related to a clinical outcome score. There was a tendency for a better clinical outcome in partial, rather than complete, tears of the anterior talofibular ligament and when there was no fluid within the peroneal tendon sheath at the initial MR examination (P = 0.092 for either abnormality). A number of other MR features did not significantly influence clinical outcome, including the presence of a calcaneofibular ligament lesion and a bone bruise of the talar dome. Clinical outcome after ankle sprain cannot consistently be predicted by MR imaging, although MR imaging may be more accurate when the anterior talofibular ligament is only partially torn and there are no signs of injury to the peroneal tendon sheath.

Periosteal ganglia: CT and MR imaging features.

PubMed

Abdelwahab, I F; Kenan, S; Hermann, G; Klein, M J; Lewis, M M

1993-07-01

The imaging features of four cases of periosteal ganglia were studied. Three lesions were located over the proximal shaft of the tibia, in proximity to the pes anserinus. The fourth lesion involved the distal shaft of the ulna. Three lesions had different degrees of external cortical erosion, scalloping, and thick spicules of periosteal bone on plain radiographs. The bone adjacent to the fourth lesion was not involved. Computed tomography (CT) showed these lesions to be sharply defined soft-tissue masses abutting the periosteum. All of the lesions had the same attenuation as fluid. Magnetic resonance (MR) imaging revealed the ganglia to be sharply defined masses that were isointense compared with neighboring muscles on T1-weighted images. There was markedly increased signal intensity compared with that of fat on T2-weighted images. The signal intensity on both types of images was homogeneous. The MR imaging features were consistent with the fluid nature of the lesions. Under the appropriate clinical circumstances, the MR imaging and CT features of periosteal ganglia are diagnostic.

[Recurrent urinary tract infection due to enterovesical fistula secondary to colon diverticular disease: a case report].

PubMed

Cavalcanti, Natália Silva; da Silva, Lorena Luryann Cartaxo; da Silva, Leonardo Sales; da Fonseca, Luiz Antonio Cavalcante; Alexandre, Cristianne da Silva

2013-01-01

Enterovesical fistula are pathological connections between the bladder and pelvic intestinal segments. It consists of a rare complication of neoplastic and inflammatory pelvic disorders, in addition to iatrogenic or traumatic injuries, and correlates with both high morbidity and mortality indexes. Male patient, 61 years old, admitted at the hospital clinics featuring abdominal pain and distension, vomiting and fecal retention. Patient's pathological precedents include high blood pressure, diabetes mellitus, vesical dysfunction and recurrent urinary tract infection on the past three years. Magnetic resonance imaging of abdomen and pelvis revealed enterovesical fistula in association with colon diverticular disease of the sigmoid. Management of choice consisted of partial colectomy with bowel lowering and partial cystectomy with surgical double-J stent insertion. Although consisting of a gastrointestinal primary affection, patients with enterovesical fistula usually search for medical help charging urinary tract features. In this particular case, our patient was admitted with gastrointestinal symptoms, reasoned by diagnostic delay, as the patient had already attended at multiple centers with urinary symptoms. Despite being an unusual affection, recurrent urinary tract infection associated with colon diverticular disease must always be considered at differential diagnosis of recurrent urinary tract infection as it concurs with high morbidity and mortality.

Pituitary xanthogranulomas: clinical features, radiological appearances and post-operative outcomes.

PubMed

Ved, R; Logier, N; Leach, P; Davies, J S; Hayhurst, C

2018-06-01

Xanthogranulomas are inflammatory masses most commonly found at peripheral sites such as the skin. Sellar and parasellar xanthogranulomas are rare and present a diagnostic challenge as they are difficult to differentiate from other sellar lesions such as craniopharyngiomas and Rathke's cleft cysts pre-operatively. Their radiological imaging features are yet to be clearly defined, and clinical outcomes after surgery are also uncertain. This study reviews clinical presentation, radiological appearances, and clinical outcomes in a cohort of patients with pituitary xanthogranulomas. A prospectively maintained pituitary surgery database was screened for histologically confirmed pituitary xanthogranulomas between May 2011-December 2016. Retrospective case note assessments were then performed by three independent reviewers. Patient demographics, clinical presentations, imaging, and clinical outcomes were analysed. During the study period 295 endoscopic endonasal pituitary surgeries were performed. Six patients had confirmed pituitary xanthogranulomas (2%). Patients most commonly presented with visual field deficits and/or endocrine dysfunction. Common imaging features included: a cystic consistency, hyperintensity on T1-weighted MR images, and contrast enhancement either peripherally (n = 3) or homogenously (n = 3). The most common pre-operative endocrine deficits were hyperprolactinaemia and hypoadrenalism (at least one of which was identified in 4/6 patients; 66%). Thirty-three percent (2/6) of patients presented with diabetes insipidus. The most common post-operative endocrinological deficits were adrenocortical dysfunction (66%) and gonadotropin deficiency (66%). Visual assessments normalised in all six patients post-operatively. Gross total resection was achieved in all patients, and at median follow up of 33.5 months there were no cases of tumour recurrence. The prevalence of pituitary xanthogranulomas in our series is higher than that suggested in the literature. Surgery restored normal vision to all cases, however four patients (67%) required long-term hormonal replacement post-operatively. Imaging features such peripheral rim enhancement, a suprasellar tumour epicentre, and the absence of both calcification or cavernous sinus invasion were identified as potential indicators that together should alert clinicians to the possibility of pituitary xanthogranuloma when assessing patients with cystic sellar and parasellar tumours.

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation.

PubMed

Kiely, Aoife P; Ling, Helen; Asi, Yasmine T; Kara, Eleanna; Proukakis, Christos; Schapira, Anthony H; Morris, Huw R; Roberts, Helen C; Lubbe, Steven; Limousin, Patricia; Lewis, Patrick A; Lees, Andrew J; Quinn, Niall; Hardy, John; Love, Seth; Revesz, Tamas; Houlden, Henry; Holton, Janice L

2015-08-27

We and others have described the neurodegenerative disorder caused by G51D SNCA mutation which shares characteristics of Parkinson's disease (PD) and multiple system atrophy (MSA). The objective of this investigation was to extend the description of the clinical and neuropathological hallmarks of G51D mutant SNCA-associated disease by the study of two additional cases from a further G51D SNCA kindred and to compare the features of this group with a SNCA duplication case and a H50Q SNCA mutation case. All three G51D patients were clinically characterised by parkinsonism, dementia, visual hallucinations, autonomic dysfunction and pyramidal signs with variable age at disease onset and levodopa response. The H50Q SNCA mutation case had a clinical picture that mimicked late-onset idiopathic PD with a good and sustained levodopa response. The SNCA duplication case presented with a clinical phenotype of frontotemporal dementia with marked behavioural changes, pyramidal signs, postural hypotension and transiently levodopa responsive parkinsonism. Detailed post-mortem neuropathological analysis was performed in all cases. All three G51D cases had abundant α-synuclein pathology with characteristics of both PD and MSA. These included widespread cortical and subcortical neuronal α-synuclein inclusions together with small numbers of inclusions resembling glial cytoplasmic inclusions (GCIs) in oligodendrocytes. In contrast the H50Q and SNCA duplication cases, had α-synuclein pathology resembling idiopathic PD without GCIs. Phosphorylated α-synuclein was present in all inclusions types in G51D cases but was more restricted in SNCA duplication and H50Q mutation. Inclusions were also immunoreactive for the 5G4 antibody indicating their highly aggregated and likely fibrillar state. Our characterisation of the clinical and neuropathological features of the present small series of G51D SNCA mutation cases should aid the recognition of this clinico-pathological entity. The neuropathological features of these cases consistently share characteristics of PD and MSA and are distinct from PD patients carrying the H50Q or SNCA duplication.

Orofacial clinical features in Arnold Chiari type I malformation: A case series.

PubMed

de Arruda, José-Alcides; Figueiredo, Eugênia; Monteiro, João-Luiz; Barbosa, Livia-Mirelle; Rodrigues, Cleomar; Vasconcelos, Belmiro

2018-04-01

Arnold Chiari malformation (ACM) is characterized by an anatomical defect at the base of the skull where the cerebellum and the spinal cord herniate through the foramen magnum into the cervical spinal canal. Among the subtypes of the condition, ACM type I (ACM-I) is particularly outstanding because of the severity of symptoms. This study aimed to analyze the orofacial clinical manifestations of patients with ACM-I, and discuss their demographic distribution and clinical features in light of the literature. A case series with patients with ACM-I treated between 2012 and 2015 was described. The sample consisted of patients who were referred by the Department of Neurosurgery to the Oral and Maxillofacial Surgery Service of Hospital da Restauração in Brazil for the assessment of facial symptomatology. A questionnaire was applied to evaluate the presence of painful orofacial findings. Data are reported using descriptive statistical methods. Mean patient age was 39.3 years and the sample consisted mostly of male patients. A high prevalence of headache (50%) and pain in the neck (66.7%) and masticatory muscles (50%) was found. Only one patient reported difficulty in performing mandibular movements and two reported jaw clicking sounds. Mean mouth opening was 40.83 mm. ACM-I patients may exhibit orofacial symptoms which may mimic temporomandibular joint disorders. This study brings interesting information that could help clinicians and oral and maxillofacial surgeons to understand this uncommon condition and also help with the diagnosis of patients with similar physical characteristics by referring them to a neurosurgeon. Key words: Arnold-Chiari malformation, facial pain, diagnosis, orofacial.

Family accommodation of anxiety symptoms in youth undergoing intensive multimodal treatment for anxiety disorders and obsessive-compulsive disorder: Nature, clinical correlates, and treatment response.

PubMed

La Buissonnière-Ariza, Valérie; Schneider, Sophie C; Højgaard, Davíð; Kay, Brian C; Riemann, Bradley C; Eken, Stephanie C; Lake, Peter; Nadeau, Joshua M; Storch, Eric A

2018-01-01

Family accommodation is associated with a range of clinical features including symptom severity, functional impairment, and treatment response. However, most previous studies in children and adolescents investigated family accommodation in samples of youth with obsessive-compulsive disorder (OCD) or anxiety disorders receiving non-intensive outpatient services. In this study, we aimed to investigate family accommodation of anxiety symptoms in a sample of youth with clinical anxiety levels undergoing an intensive multimodal intervention for anxiety disorders or OCD. We first assessed the internal consistency of the Family Accommodation Scale - Anxiety (FASA). We next examined family accommodation presentation and correlates. The FASA showed high internal consistency for all subscales and total score, and good item and subscale correlations with the total score. All parents reported at least mild accommodation, and the mean levels of family accommodation were particularly high. Child age, anxiety severity, and comorbid depressive symptoms predicted baseline accommodation. However, the association between anxiety severity and family accommodation no longer remained significant after adding the other factors to the model. In addition, family accommodation partially mediated the relationship between anxiety severity and functional impairment. Finally, post-treatment changes in family accommodation predicted changes in symptom severity and functional impairment. These findings suggest the FASA is an appropriate tool to assess family accommodation in intensive treatment samples. Further, they underline the importance of addressing family accommodation in this population given the particularly high levels of accommodating behaviors and the evidence for adverse outcomes associated with this feature. Copyright © 2017 Elsevier Inc. All rights reserved.

Patient-specific CFD models for intraventricular flow analysis from 3D ultrasound imaging: Comparison of three clinical cases.

PubMed

Bavo, A M; Pouch, A M; Degroote, J; Vierendeels, J; Gorman, J H; Gorman, R C; Segers, P

2017-01-04

As the intracardiac flow field is affected by changes in shape and motility of the heart, intraventricular flow features can provide diagnostic indications. Ventricular flow patterns differ depending on the cardiac condition and the exploration of different clinical cases can provide insights into how flow fields alter in different pathologies. In this study, we applied a patient-specific computational fluid dynamics model of the left ventricle and mitral valve, with prescribed moving boundaries based on transesophageal ultrasound images for three cardiac pathologies, to verify the abnormal flow patterns in impaired hearts. One case (P1) had normal ejection fraction but low stroke volume and cardiac output, P2 showed low stroke volume and reduced ejection fraction, P3 had a dilated ventricle and reduced ejection fraction. The shape of the ventricle and mitral valve, together with the pathology influence the flow field in the left ventricle, leading to distinct flow features. Of particular interest is the pattern of the vortex formation and evolution, influenced by the valvular orifice and the ventricular shape. The base-to-apex pressure difference of maximum 2mmHg is consistent with reported data. We used a CFD model with prescribed boundary motion to describe the intraventricular flow field in three patients with impaired diastolic function. The calculated intraventricular flow dynamics are consistent with the diagnostic patient records and highlight the differences between the different cases. The integration of clinical images and computational techniques, therefore, allows for a deeper investigation intraventricular hemodynamics in patho-physiology. Copyright © 2016 Elsevier Ltd. All rights reserved.

Gambling disorder in financial markets: Clinical and treatment-related features

PubMed Central

Shin, Young-Chul; Choi, Sam-Wook; Ha, Juwon; Choi, Jung-Seok; Kim, Dai-Jin

2015-01-01

Background and Aims To date, few studies have examined the clinical manifestation of disordered gamblers in financial markets. This study examined the differences in the clinical and treatment-related features of gambling disorder between financial markets and horse races. Methods Subjects who met the DSM-IV criteria for pathological gambling (PG) and who sought treatment were assessed by retrospective chart review. One hundred forty-four subjects were included in this sample, which consisted of the following groups: financial markets (n = 45; 28.6%) and horse races (n = 99; 71.4%). Results Multiple similar manifestations were found between the groups, including severity of PG, age of PG onset, amounts of gambling debts, drinking days per week, depressive mood, duration of seeking treatment after the onset of PG, and treatment follow-up duration. However, disordered gamblers who invested in the financial market were significantly more likely to be educated (p = 0.003), live with their spouses (p = 0.007), have full-time jobs (p = 0.006), and they were more likely to participate in the first type of gambling than the horse races group (p<0.001). Furthermore, the financial markets group received the anti-craving medication less often than the horse races group (p = 0.04). Discussion and Conclusions: These findings suggest that disordered gamblers in financial markets show different socio-demographic, clinical and treatment-related features compared with the horse race gamblers, despite a similar severity of gambling disorder. Understanding these differential manifestations may provide insight into prevention and treatment development for specific types of gambling. PMID:26690619

Gambling disorder in financial markets: Clinical and treatment-related features.

PubMed

Shin, Young-Chul; Choi, Sam-Wook; Ha, Juwon; Choi, Jung-Seok; Kim, Dai-Jin

2015-12-01

To date, few studies have examined the clinical manifestation of disordered gamblers in financial markets. This study examined the differences in the clinical and treatment-related features of gambling disorder between financial markets and horse races. Subjects who met the DSM-IV criteria for pathological gambling (PG) and who sought treatment were assessed by retrospective chart review. One hundred forty-four subjects were included in this sample, which consisted of the following groups: financial markets (n = 45; 28.6%) and horse races (n = 99; 71.4%). Multiple similar manifestations were found between the groups, including severity of PG, age of PG onset, amounts of gambling debts, drinking days per week, depressive mood, duration of seeking treatment after the onset of PG, and treatment follow-up duration. However, disordered gamblers who invested in the financial market were significantly more likely to be educated (p = 0.003), live with their spouses (p = 0.007), have full-time jobs (p = 0.006), and they were more likely to participate in the first type of gambling than the horse races group (p<0.001). Furthermore, the financial markets group received the anti-craving medication less often than the horse races group (p = 0.04). These findings suggest that disordered gamblers in financial markets show different socio-demographic, clinical and treatment-related features compared with the horse race gamblers, despite a similar severity of gambling disorder. Understanding these differential manifestations may provide insight into prevention and treatment development for specific types of gambling.

Pulmonary fibrosis secondary to siderosis causing symptomatic respiratory disease: a case report.

PubMed

McCormick, Liam M; Goddard, Martin; Mahadeva, Ravi

2008-08-05

Pulmonary siderosis secondary to the inhalation of iron compounds is a rare condition which, despite striking radiological and histopathological features, has not traditionally been associated with symptoms or functional impairment. Although not the first of its kind, we present an unusual case of pulmonary siderosis with symptomatic respiratory disease, most likely secondary to associated fibrosis. A 66-year-old Caucasian man was referred to the outpatient clinic with a 2-year history of exertional breathlessness. He had worked as an engineer for 20 years where he did a significant amount of welding but always wore a face shield. Clinical, radiological and histological features were consistent with a diagnosis of pulmonary siderosis, with associated fibrosis, most likely related to his occupational welding history. Our report illustrates that symptomatic respiratory disease due to mild peribronchiolar fibrosis can occur with pulmonary siderosis despite wearing a mask. Furthermore, it reinforces the need for all clinicians to compile a detailed occupational history in individuals presenting with breathlessness.

Telangiectatic oncocytoma: a previously undescribed variant of renal oncocytoma.

PubMed

Xiao, Guang-Qian; Ko, Huai-Bin Mabel; Unger, Pamela

2013-07-01

To identify, describe, and investigate the clinical, radiologic, and pathologic features of 8 cases of telangiectatic oncocytoma. Fifty-three consecutive renal oncocytomas were reviewed for the telangiectatic pathologic features that were subsequently correlated with the demographic, clinical, and radiographic findings. Telangiectatic oncocytoma accounted for 15% of the 53 renal oncocytomas collected in the past 7 years in our institution. On radiology, almost all presented as an enhancing mass and were suspicious for or consistent with a renal malignant tumor. Grossly, the tumors ranged from 2.4 to 6.0 cm (mean, 3.5 cm) and macroscopically were hemorrhagic spongy or multicystic masses without a central stellate scar. Microscopically, they were characterized by variably sized blood-distended spaces (<0.1-mm to 2- to 3-mm blood lakes) lined by typical oncocytoma cells and without evidence of degenerative changes. With its unique radiologic and pathologic presentations in comparison with classic renal oncocytoma, it is important to recognize this new variant of renal oncocytoma.

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

Predisposing factors in childhood masturbation in Turkey.

PubMed

Unal, F

2000-05-01

The aim of this prospective, referral-based study was to assess demographical and developmental features associated with childhood masturbation in Turkey. A total of 61 children with childhood masturbation who were referred for the first time to the Department of Child Psychiatry were examined from demographical, psychosocial and medical aspects and compared with two control groups consisting of 61 age and gender matched children who were brought to the paediatric outpatient clinics and 43 children and adolescents who were the biological siblings of the study group. In children with masturbation, sleep difficulties were more frequent (P < 0.001) and breast-feeding was shorter than in controls (P < 0.05). The onset of masturbation was often associated with a genito-urinary disorder or a stressful life event like weaning, the birth of a sibling, or separation from the parents. This is the first controlled study investigating the clinical and the developmental features of childhood masturbation. These findings may help identify children who could be at risk for this condition.

Dental occlusion and temporomandibular disorders.

PubMed

Stone, J Caitlin; Hannah, Andrew; Nagar, Nathan

2017-10-27

Data sourcesMedline, Scopus and Google Scholar.Study selectionTwo reviewers selected studies independently. English language clinical studies assessing the association between temporomandibular disorders (TMD) and features of dental occlusion were considered.Data extraction and synthesisStudy quality was assessed based on the Newcastle-Ottawa Scale (NOS) and a narrative synthesis was presented.ResultsIn all 25 studies (17 case-control, eight comparative) were included. Overall there was a high variability between occlusal features and TMD diagnosis. Findings were consistent with a lack of clinically relevant association between TMD and dental occlusion. Only two studies were associated with TMD in the majority (≥50%) of single variable analyses in patient populations. Only mediotrusive interferences are associated with TMD in the majority of multiple variable analyses.ConclusionsThe findings support the absence of a disease-specific association, there is no ground to hypothesise a major role for dental occlusion in the pathophysiology of TMDs. Dental clinicians are thus encouraged to move forward and abandon the old-fashioned gnathological paradig.

[The place of neuropathy in the early diagnosis of Cockayne syndrome: Report on two siblings].

PubMed

Blin-Rochemaure, N; Allani-Essid, N; Carlier, R; Laugel, V; Quijano-Roy, S

2017-04-01

Two siblings affected with Cockayne syndrome (CS) are described: this diagnosis was suggested by the finding of a demyelinating neuropathy on electromyography in both children and consistent clinical features. CS is a rare genetic disorder with severe prognosis and a highly varied phenotype, making early diagnosis difficult. Taking into account these two cases and the literature, the current diagnosis criteria are insufficiently specific and appear late: the diagnosis may be delayed because multi-organ involvement and sensorial impairment suggests more frequent neurometabolic disorders. Neuroradiologic abnormalities are suggestive but may occur later. The finding of a demyelinating peripheral neuropathy seems to be a more useful marker to suspect this disorder in the presence of other clinical features. Further studies are required to better define the chronology of the symptoms, not only for adequate genetic counseling and eventual prenatal diagnosis, but also to assess the efficacy of future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

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.

Feature study of hysterical blindness EEG based on FastICA with combined-channel information.

PubMed

Qin, Xuying; Wang, Wei; Hu, Lintao; Wang, Xu; Yuan, Xiaojie

2015-01-01

An appropriate feature study of hysteria electroencephalograms (EEG) would provide new insights into neural mechanisms of the disease, and also make improvements in patient diagnosis and management. The objective of this paper is to provide an explanation for what causes a particular visual loss, by associating the features of hysterical blindness EEG with brain function. An idea for the novel feature extraction for hysterical blindness EEG, utilizing combined-channel information, was applied in this paper. After channels had been combined, the sliding-window-FastICA was applied to process the combined normal EEG and hysteria EEG, respectively. Kurtosis features were calculated from the processed signals. As the comparison feature, the power spectral density of normal and hysteria EEG were computed. According to the feature analysis results, a region of brain dysfunction was located at the occipital lobe, O1 and O2. Furthermore, new abnormality was found at the parietal lobe, C3, C4, P3, and P4, that provided us with a new perspective for understanding hysterical blindness. Indicated by the kurtosis results which were consistent with brain function and the clinical diagnosis, our method was found to be a useful tool to capture features in hysterical blindness EEG.

Examination of clinical and cognitive insight in acute schizophrenia patients.

PubMed

Greenberger, Cheryl; Serper, Mark R

2010-07-01

Lack of insight or awareness of illness is a hallmark feature of schizophrenic illness and has become an increasingly important area of investigation. Although clinical insight focuses on awareness of illness factors, the concept of cognitive insight focuses on the cognitive processes involved in correcting erroneous judgments and certainty about mistaken judgments. The present study was aimed at further investigating the clinical utility and the statistical coherence of the Beck Cognitive Insight Scale (BCIS) (Beck et al., 2004) in acute schizoaffective and schizophrenia (SZ) patients. The present study examined the internal consistency of the scale, as well as its discriminative and predictive validity relative to a well-established traditional measure of clinical insight in a sample of 50 DSM-IV diagnosed SZ patients, presenting for acute inpatient treatment. The BCIS was found to be an internally consistent and a coherent measure of cognitive insight. The BCIS was unassociated with clinical insight, indicating the 2 constructs share little empirical overlap. Cognitive insight was found to be inversely associated with patients' severity of autistic preoccupation symptoms such that those individuals with more cognitive insight, exhibited fewer autistic/cognitive symptoms. Patients' clinical insight, however, was found to be inversely associated specifically with patients' severity of depression. Additionally, clinical insight was also found to be more impaired in patients residing in nursing home environments relative to their counterparts living in less restrictive settings when outside the hospital. Results are discussed in terms of the relationship between clinical and cognitive insight constructs to SZ symptom domains.

Prediction of paroxysmal atrial fibrillation using recurrence plot-based features of the RR-interval signal.

PubMed

Mohebbi, Maryam; Ghassemian, Hassan

2011-08-01

Atrial fibrillation (AF) is the most common cardiac arrhythmia and increases the risk of stroke. Predicting the onset of paroxysmal AF (PAF), based on noninvasive techniques, is clinically important and can be invaluable in order to avoid useless therapeutic intervention and to minimize risks for the patients. In this paper, we propose an effective PAF predictor which is based on the analysis of the RR-interval signal. This method consists of three steps: preprocessing, feature extraction and classification. In the first step, the QRS complexes are detected from the electrocardiogram (ECG) signal and then the RR-interval signal is extracted. In the next step, the recurrence plot (RP) of the RR-interval signal is obtained and five statistically significant features are extracted to characterize the basic patterns of the RP. These features consist of the recurrence rate, length of longest diagonal segments (L(max )), average length of the diagonal lines (L(mean)), entropy, and trapping time. Recurrence quantification analysis can reveal subtle aspects of dynamics not easily appreciated by other methods and exhibits characteristic patterns which are caused by the typical dynamical behavior. In the final step, a support vector machine (SVM)-based classifier is used for PAF prediction. The performance of the proposed method in prediction of PAF episodes was evaluated using the Atrial Fibrillation Prediction Database (AFPDB) which consists of both 30 min ECG recordings that end just prior to the onset of PAF and segments at least 45 min distant from any PAF events. The obtained sensitivity, specificity, positive predictivity and negative predictivity were 97%, 100%, 100%, and 96%, respectively. The proposed methodology presents better results than other existing approaches.

Primary progressive aphasia and the evolving neurology of the language network

PubMed Central

Mesulam, M.-Marsel; Rogalski, Emily J.; Wieneke, Christina; Hurley, Robert S.; Geula, Changiz; Bigio, Eileen H.; Thompson, Cynthia K.; Weintraub, Sandra

2014-01-01

Primary progressive aphasia (PPA) is caused by selective neurodegeneration of the language-dominant cerebral hemisphere; a language deficit initially arises as the only consequential impairment and remains predominant throughout most of the course of the disease. Agrammatic, logopenic and semantic subtypes, each reflecting a characteristic pattern of language impairment and corresponding anatomical distribution of cortical atrophy, represent the most frequent presentations of PPA. Such associations between clinical features and the sites of atrophy have provided new insights into the neurology of fluency, grammar, word retrieval, and word comprehension, and have necessitated modification of concepts related to the functions of the anterior temporal lobe and Wernicke’s area. The underlying neuropathology of PPA is, most commonly, frontotemporal lobar degeneration in the agrammatic and semantic forms, and Alzheimer disease (AD) pathology in the logopenic form; the AD pathology often displays atypical and asymmetrical anatomical features consistent with the aphasic phenotype. The PPA syndrome reflects complex interactions between disease-specific neuropathological features and patient-specific vulnerability. A better understanding of these interactions might help us to elucidate the biology of the language network and the principles of selective vulnerability in neurodegenerative diseases. We review these aspects of PPA, focusing on advances in our understanding of the clinical features and neuropathology of PPA and what they have taught us about the neural substrates of the language network. PMID:25179257

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.

Primary progressive aphasia and the evolving neurology of the language network.

PubMed

Mesulam, M-Marsel; Rogalski, Emily J; Wieneke, Christina; Hurley, Robert S; Geula, Changiz; Bigio, Eileen H; Thompson, Cynthia K; Weintraub, Sandra

2014-10-01

Primary progressive aphasia (PPA) is caused by selective neurodegeneration of the language-dominant cerebral hemisphere; a language deficit initially arises as the only consequential impairment and remains predominant throughout most of the course of the disease. Agrammatic, logopenic and semantic subtypes, each reflecting a characteristic pattern of language impairment and corresponding anatomical distribution of cortical atrophy, represent the most frequent presentations of PPA. Such associations between clinical features and the sites of atrophy have provided new insights into the neurology of fluency, grammar, word retrieval, and word comprehension, and have necessitated modification of concepts related to the functions of the anterior temporal lobe and Wernicke's area. The underlying neuropathology of PPA is, most commonly, frontotemporal lobar degeneration in the agrammatic and semantic forms, and Alzheimer disease (AD) pathology in the logopenic form; the AD pathology often displays atypical and asymmetrical anatomical features consistent with the aphasic phenotype. The PPA syndrome reflects complex interactions between disease-specific neuropathological features and patient-specific vulnerability. A better understanding of these interactions might help us to elucidate the biology of the language network and the principles of selective vulnerability in neurodegenerative diseases. We review these aspects of PPA, focusing on advances in our understanding of the clinical features and neuropathology of PPA and what they have taught us about the neural substrates of the language network.

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.

Neonatal Jaundice Detection System.

PubMed

Aydın, Mustafa; Hardalaç, Fırat; Ural, Berkan; Karap, Serhat

2016-07-01

Neonatal jaundice is a common condition that occurs in newborn infants in the first week of life. Today, techniques used for detection are required blood samples and other clinical testing with special equipment. The aim of this study is creating a non-invasive system to control and to detect the jaundice periodically and helping doctors for early diagnosis. In this work, first, a patient group which is consisted from jaundiced babies and a control group which is consisted from healthy babies are prepared, then between 24 and 48 h after birth, 40 jaundiced and 40 healthy newborns are chosen. Second, advanced image processing techniques are used on the images which are taken with a standard smartphone and the color calibration card. Segmentation, pixel similarity and white balancing methods are used as image processing techniques and RGB values and pixels' important information are obtained exactly. Third, during feature extraction stage, with using colormap transformations and feature calculation, comparisons are done in RGB plane between color change values and the 8-color calibration card which is specially designed. Finally, in the bilirubin level estimation stage, kNN and SVR machine learning regressions are used on the dataset which are obtained from feature extraction. At the end of the process, when the control group is based on for comparisons, jaundice is succesfully detected for 40 jaundiced infants and the success rate is 85 %. Obtained bilirubin estimation results are consisted with bilirubin results which are obtained from the standard blood test and the compliance rate is 85 %.

Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

PubMed

Dias, Cristina; Cairns, Robyn; Patel, Millan S

2009-01-01

The spondylo-meta-epiphyseal dysplasias are an expanding group of skeletal dysplasias with specific features differentiating each subtype. We review the precocious carpal mineralization, unique metacarpal shape, triangular distal phalanges and mushroom cloud-shaped proximal phalanges present at an early age in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type (SMED SL-AC) and report two patients with clinical and radiographic features consistent with SMED SL-AC, who died suddenly because of spinal cord compression. The patients presented are female siblings, providing further evidence for autosomal recessive inheritance. Cervical cord compression is found in half of reported patients and is the major cause of mortality. SMED SL-AC should be added to the list of genetic causes of sudden death. Radiological features in the hand may be used in the first few years of life to support an early diagnosis and thus allow for prevention of premature demise.

Initial development of a computer-aided diagnosis tool for solitary pulmonary nodules

NASA Astrophysics Data System (ADS)

Catarious, David M., Jr.; Baydush, Alan H.; Floyd, Carey E., Jr.

2001-07-01

This paper describes the development of a computer-aided diagnosis (CAD) tool for solitary pulmonary nodules. This CAD tool is built upon physically meaningful features that were selected because of their relevance to shape and texture. These features included a modified version of the Hotelling statistic (HS), a channelized HS, three measures of fractal properties, two measures of spicularity, and three manually measured shape features. These features were measured from a difficult database consisting of 237 regions of interest (ROIs) extracted from digitized chest radiographs. The center of each 256x256 pixel ROI contained a suspicious lesion which was sent to follow-up by a radiologist and whose nature was later clinically determined. Linear discriminant analysis (LDA) was used to search the feature space via sequential forward search using percentage correct as the performance metric. An optimized feature subset, selected for the highest accuracy, was then fed into a three layer artificial neural network (ANN). The ANN's performance was assessed by receiver operating characteristic (ROC) analysis. A leave-one-out testing/training methodology was employed for the ROC analysis. The performance of this system is competitive with that of three radiologists on the same database.

Baseline demographics, clinical features, and treatment protocols of 240 patients with optic neuropathy: experiences from a neuro-ophthalmological clinic in the Aegean region of Turkey.

PubMed

Karti, Omer; Karti, Dilek Top; Kilic, İlay Hilal; Gokcay, Figen; Celebisoy, Nese

2017-12-19

To analyze the demographic patterns, clinical characteristics, and treatment protocols of optic neuropathies. The hospital data of patients with optic neuropathy admitted to the Department of Neuro-ophthalmology in a tertiary referral center in Turkey between January 2010 to January 2017 were retrospectively analyzed. Demographic patterns, clinical features, treatment protocols, and the natural disease courses were assessed. The total number of patients with optic neuropathy seen over this period was 240, which consist of 43 with idiopathic optic neuritis (17.9%), 40 with multiple sclerosis-related optic neuritis (16.7%), 12 with chronic relapsing inflammatory optic neuritis (5.0%), 12 with atypical optic neuritis (5.0%), 11 with neuromyelitis optica spectrum disorders-related optic neuritis (4.6%), 90 with non-arteritic ischemic optic neuropathy (37.5%), 4 with arteritic ischemic optic neuropathy (1.7%), 10 with traumatic optic neuropathy (4.1%), 6 with compressive optic neuropathy (2.5%), and 12 with mitochondrial optic neuropathy [9 with toxic optic neuropathy (3.7%) and 3 with Leber's hereditary optic neuropathy (1.2%)]. There were 101 males (42%) and 139 females (58%). The mean age was 43.34 ± 15.86 years. This study reported the demographics, clinical characteristics, and treatment protocols of optic neuropathies in a neuro-ophthalmology specialty clinic at a tertiary referral center in Turkey during the past decade. The data may be useful in assessing the global status of optic neuropathies.

Psoriasiform Keratosis - Case report*

PubMed Central

Pires, Carla Andréa Avelar; de Sousa, Brena Andrade; do Nascimento, Carla do Socorro Silva; Moutinho, Ana Thais Machado; de Miranda, Mario Fernando Ribeiro; Carneiro, Francisca Regina Oliveira

2014-01-01

Psoriasiform Keratosis is a rare clinic entity. The etiopathogenesis remains unknown and the disease is characterized by a solitary, scaly or keratotic papule, or plaque mainly located on the extremities. Histopathological features closely resemble those of psoriasis. We report the case of a 70-year-old woman presenting a solitary and asymptomatic keratotic plaque, located on the back of the left leg, unresponsive to topical corticosteroids. We performed an excisional biopsy and histopathology was consistent with psoriasiform keratosis. PMID:24770510

Inferior Cerebellar Hypoplasia Resembling a Dandy-Walker-Like Malformation in Purebred Eurasier Dogs with Familial Non-Progressive Ataxia: A Retrospective and Prospective Clinical Cohort Study

PubMed Central

Bernardino, Filipa; Rentmeister, Kai; Schmidt, Martin J.; Bruehschwein, Andreas; Matiasek, Kaspar; Matiasek, Lara A.; Lauda, Alexander; Schoon, Heinz A.; Fischer, Andrea

2015-01-01

Cerebellar malformations can be inherited or caused by insults during cerebellar development. To date, only sporadic cases of cerebellar malformations have been reported in dogs, and the genetic background has remained obscure. Therefore, this study`s objective was to describe the clinical characteristics, imaging features and pedigree data of a familial cerebellar hypoplasia in purebred Eurasier dogs. A uniform cerebellar malformation characterized by consistent absence of the caudal portions of the cerebellar vermis and, to a lesser degree, the caudal portions of the cerebellar hemispheres in association with large retrocerebellar fluid accumulations was recognized in 14 closely related Eurasier dogs. Hydrocephalus was an additional feature in some dogs. All dogs displayed non-progressive ataxia, which had already been noted when the dogs were 5 – 6 weeks old. The severity of the ataxia varied between dogs, from mild truncal sway, subtle dysmetric gait, dysequilibrium and pelvic limb ataxia to severe cerebellar ataxia in puppies and episodic falling or rolling. Follow-up examinations in adult dogs showed improvement of the cerebellar ataxia and a still absent menace response. Epileptic seizures occurred in some dogs. The association of partial vermis agenesis with an enlarged fourth ventricle and an enlarged caudal (posterior) fossa resembled a Dandy-Walker-like malformation in some dogs. Pedigree analyses were consistent with autosomal recessive inheritance. PMID:25668516

Keratolysis exfoliativa (dyshidrosis lamellosa sicca): a distinct peeling entity.

PubMed

Chang, Y Y; van der Velden, J; van der Wier, G; Kramer, D; Diercks, G F H; van Geel, M; Coenraads, P J; Zeeuwen, P L J M; Jonkman, M F

2012-11-01

Keratolysis exfoliativa (KE), also known as dyshidrosis lamellosa sicca, is a palmoplantar dermatosis characterized by air-filled blisters and collarette desquamation. It has been regarded as a subtype of dyshidrotic eczema, a fungal infection or a dermatophytid reaction. KE may also resemble acral peeling skin syndrome and localized epidermolysis bullosa simplex. Although KE is a common disorder, it is a rarely reported and is an under-recognized dermatosis. To delineate the characteristic features of KE. We investigated the clinical, immunohistopathological, ultrastructural and molecular features of KE. Patients were included from the clinical records. Additional diagnostic research consisted of mutation analysis of the candidate genes TGM5, KRT5, KRT14, FLG, SPINK6 and SPINK9. A total of 24 patients with KE were identified, six with familial and 18 with sporadic KE. Lesions consisted of air-filled blisters only on palmoplantar skin, followed by collarette and lamellar peeling. Both light microscopy and electron microscopy showed cleavage and partially degraded corneodesmosomes within the stratum corneum, whereas immunofluorescence microscopy showed normal expression of corneodesmosomal components. No mutations were found in TGM5, KRT5/14 and SPINK6/9. There was no clear link with atopy or with FLG mutations. Our study suggests premature corneodesmolysis as the main pathological mechanism of this palmoplantar skin disorder. We conclude that KE appears to be a distinct peeling entity. © 2012 The Authors. BJD © 2012 British Association of Dermatologists.

Heterogeneity in macular corneal dystrophy.

PubMed

Edward, D P; Yue, B Y; Sugar, J; Thonar, E J; SunderRaj, N; Stock, E L; Tso, M O

1988-11-01

Macular corneal dystrophy is an autosomal recessive disorder in which abnormal deposits in the corneal stroma have been identified. We examined the corneal buttons of 12 patients, who had clinical features of macular dystrophy, by histochemical staining, transmission electron microscopy, and immunohistochemical techniques. All corneas exhibited positive staining with Muller Mowry's colloidal iron. Using monoclonal antibodies 1/20/5-D-4, J-10, J-19, and J-36 that recognize specific sites on the sulfated keratan sulfate molecule, we stained corneal sections by an avidin-biotin-peroxidase complex method and identified two groups of macular corneal dystrophy. One group consisting of four corneas reacted positively with all four antibodies, and the other group consisting of eight corneas did not react with any of the antibodies used. These results confirmed those recently presented by Yang et al that there may be subgroups of macular dystrophy that can be identified by immunohistochemical methods. Also, serum levels of sulfated keratan sulfate were determined in seven patients. One patient who displayed a normal level of serum keratan sulfate had positive corneal immunoreactivity. Of the six patients who lacked serum keratan sulfate, four showed negative and two had positive corneal immunostaining, suggesting at least three subgroups in the disease. An attempt was made to correlate the clinical features, histochemical-staining characteristics, and ultrastructural morphology with the immunoreactivity to keratan sulfate antibodies, but no correlations could be made.

Incidence of mitral valve prolapse in one hundred clinically stable newborn baby girls: an echocardiographic study.

PubMed

Chandraratna, P A; Vlahovich, G; Kong, Y; Wilson, D

1979-09-01

Clinical and echocardiographic examinations were performed on 100 clinically stable, newborn baby girls. Mitral valve prolapse was noted on the echocardiograms of seven babies. Three subjects had systolic clicks, two of whom had systolic murmurs following the click. The four other babies who had echocardiographic evidence of mitral valve prolapse had no abnormal auscultatory signs. Of the 93 babies without evidence of mitral prolapse, 91 had normal echocardiograms and auscultatory features; one was noted to have a murmur consistent with a ventricular septal defect, and another had an eccentric aortic valve on the echocardiogram which was suggestive of a bicuspid aortic valve. Serial studies on our group of subjects will yield useful information regarding the natural history of mitral valve prolapse.

Phenomenology and classification of dystonia: a consensus update.

PubMed

Albanese, Alberto; Bhatia, Kailash; Bressman, Susan B; Delong, Mahlon R; Fahn, Stanley; Fung, Victor S C; Hallett, Mark; Jankovic, Joseph; Jinnah, Hyder A; Klein, Christine; Lang, Anthony E; Mink, Jonathan W; Teller, Jan K

2013-06-15

This report describes the consensus outcome of an international panel consisting of investigators with years of experience in this field that reviewed the definition and classification of dystonia. Agreement was obtained based on a consensus development methodology during 3 in-person meetings and manuscript review by mail. Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. Dystonia is classified along 2 axes: clinical characteristics, including age at onset, body distribution, temporal pattern and associated features (additional movement disorders or neurological features); and etiology, which includes nervous system pathology and inheritance. The clinical characteristics fall into several specific dystonia syndromes that help to guide diagnosis and treatment. We provide here a new general definition of dystonia and propose a new classification. We encourage clinicians and researchers to use these innovative definition and classification and test them in the clinical setting on a variety of patients with dystonia. © 2013 Movement Disorder Society. © 2013 Movement Disorder Society.

Design, development, and clinical evaluation of the electronic mobility cane for vision rehabilitation.

PubMed

Bhatlawande, Shripad; Mahadevappa, Manjunatha; Mukherjee, Jayanta; Biswas, Mukul; Das, Debabrata; Gupta, Somedeb

2014-11-01

This paper proposes a new electronic mobility cane (EMC) for providing obstacle detection and way-finding assistance to the visually impaired people. The main feature of this cane is that it constructs the logical map of the surrounding environment to deduce the priority information. It provides a simplified representation of the surrounding environment without causing any information overload. It conveys this priority information to the subject by using intuitive vibration, audio or voice feedback. The other novel features of the EMC are staircase detection and nonformal distance scaling scheme. It also provides information about the floor status. It consists of a low power embedded system with ultrasonic sensors and safety indicators. The EMC was subjected to series of clinical evaluations in order to verify its design and to assess its ability to assist the subjects in their daily-life mobility. Clinical evaluations were performed with 16 totally blind and four low vision subjects. All subjects walked controlled and the real-world test environments with the EMC and the traditional white cane. The evaluation results and significant scores of subjective measurements have shown the usefulness of the EMC in vision rehabilitation services.

Sarcoma of the thyroid region mimicking Riedel's thyroiditis

PubMed Central

Torres-Montaner, A; Beltran, M; d Romero; Oliva, H

2001-01-01

Because sarcomas of the anterior lower neck region occur so infrequently, they are not usually considered in the differential diagnosis of Riedel's thyroiditis. Riedel's thyroiditis itself may be confused on clinical grounds alone with malignant neoplasms because of its invasive features. Sarcomatoid carcinoma is the main entity to be discarded in this regard. This is accomplished through histological examination by the finding of carcinomatous areas and/or reactivity with epithelial markers. These features also set apart sarcomatoid carcinoma from true sarcomas. This report concerns a patient with a sarcoma of the anterior lower neck region which was initially suspected to be Riedel's thyroiditis or sarcomatoid carcinoma on clinical and radiological grounds. A peroperative biopsy was interpreted by two independent pathologists as consistent with Riedel's thyroiditis. The subsequent clinical course and postmortem examination demonstrated a high grade sarcoma with metastasis to both lungs and the pleura, and invasion of adjacent neck structures. Nevertheless, some areas of the postmortem material showed a microscopic pattern similar to mediastinal fibrosis, raising the possibility of the malignant transformation of a fibrosclerotic lesion. Key Words: Riedel's thyroiditis • sarcomatoid carcinoma • fibrous histiocytoma • differential diagnosis PMID:11429435

Diagnosis of apical hypertrophic cardiomyopathy: T-wave inversion and relative but not absolute apical left ventricular hypertrophy☆

PubMed Central

Flett, Andrew S.; Maestrini, Viviana; Milliken, Don; Fontana, Mariana; Treibel, Thomas A.; Harb, Rami; Sado, Daniel M.; Quarta, Giovanni; Herrey, Anna; Sneddon, James; Elliott, Perry; McKenna, William; Moon, James C.

2015-01-01

Background Diagnosis of apical HCM utilizes conventional wall thickness criteria. The normal left ventricular wall thins towards the apex such that normal values are lower in the apical versus the basal segments. The impact of this on the diagnosis of apical hypertrophic cardiomyopathy has not been evaluated. Methods We performed a retrospective review of 2662 consecutive CMR referrals, of which 75 patients were identified in whom there was abnormal T-wave inversion on ECG and a clinical suspicion of hypertrophic cardiomyopathy. These were retrospectively analyzed for imaging features consistent with cardiomyopathy, specifically: relative apical hypertrophy, left atrial dilatation, scar, apical cavity obliteration or apical aneurysm. For comparison, the same evaluation was performed in 60 healthy volunteers and 50 hypertensive patients. Results Of the 75 patients, 48 met conventional HCM diagnostic criteria and went on to act as another comparator group. Twenty-seven did not meet criteria for HCM and of these 5 had no relative apical hypertrophy and were not analyzed further. The remaining 22 patients had relative apical thickening with an apical:basal wall thickness ratio > 1 and a higher prevalence of features consistent with a cardiomyopathy than in the control groups with 54% having 2 or more of the 4 features. No individual in the healthy volunteer group had more than one feature and no hypertension patient had more than 2. Conclusion A cohort of individuals exist with T wave inversion, relative apical hypertrophy and additional imaging features of HCM suggesting an apical HCM phenotype not captured by existing diagnostic criteria. PMID:25666123

Mixed cortical adenoma and composite pheochromocytoma-ganglioneuroma: an unusual corticomedullary tumor of the adrenal gland.

PubMed

Lau, Sean K; Chu, Peiguo G; Weiss, Lawrence M

2011-06-01

Adrenal neoplasms composed of more than one cell type and demonstrating a mixed histologic appearance are exceedingly rare. We report the clinical and pathologic features of a morphologically distinctive tumor of the adrenal gland composed of cortical, chromaffin, and neural cells. Histologically, the tumor consisted of intermixed areas of proliferating cortical cells resembling adrenal cortical adenoma, neoplastic chromaffin cells consistent with pheochromocytoma, and a ganglioneuromatous stroma. The presence of the cortical, medullary, and neural components within the tumor was confirmed by immunohistochemical studies. The present case serves to broaden the morphologic spectrum of mixed tumors that may be encountered in the adrenal gland. Copyright © 2011 Elsevier Inc. All rights reserved.

The fundamental role of subcellular topography in peripheral nerve repair therapies.

PubMed

Spivey, Eric C; Khaing, Zin Z; Shear, Jason B; Schmidt, Christine E

2012-06-01

Clinical evidence suggests that nano- and microtopography incorporated into scaffolds does not merely improve peripheral nerve regeneration, but is in fact a prerequisite for meaningful restoration of nerve function. Although the biological mechanisms involved are not fully understood, grafts incorporating physical guides that mimic microscopic nerve tissue features (e.g., basal laminae) appear to provide a significant advantage over grafts that rely on purely chemical or macroscopic similarities to nerve tissue. Investigators consistently demonstrate the fundamental importance of nano- and micro-scale physical features for appropriate cell response in a wide range of biological scenarios. Additionally, recent in vivo research demonstrates that nerve regeneration scaffolds with cell-scale physical features are more effective than those that rely only on chemical or macro-scale features. Physical guidance at the cell-scale is especially important for long (>20 mm) nerve defects, for which the only reliable treatment is the autologous nerve graft. The lack of other available options exposes a clear need for the application of nano- and microfabrication techniques that will allow the next generation of engineered nerve guides to more closely mimic native tissue at those scales. This review examines current research to determine what elements of cell-scale topography in experimental scaffolds are most effective at stimulating functional recovery, and then presents an overview of fabrication techniques that could potentially improve future treatment paradigms. Relative advantages and disadvantages of these techniques are discussed, with respect to both clinical adaptation and likely effectiveness. Our intent is to more clearly delineate the remaining obstacles in the development of a next generation nerve guide, particularly for long defects, and offer new perspectives on steering current technologies towards clinically viable solutions. Copyright © 2012 Elsevier Ltd. All rights reserved.

Diagnostics of oral lichen planus based on analysis of volatile organic compounds in saliva

NASA Astrophysics Data System (ADS)

Kistenev, Yury; Borisov, Alexey; Shapovalov, Alexander; Baydik, Olga; Titarenko, Maria

2017-03-01

The ability of diagnostics of oral lichen planus (OLP) based on spectral analysis of saliva using the THz spectroscopy is presented. The study included 8 patients with clinically proven OLP. The comparison group consisted of 8 healthy volunteers. Absorption spectra of the saliva was measured using time-domain spectrometer T-spec (EXPLA) in the range 0.2-3THz and have been considered as the feature vectors of the state. The spatial distribution of the objects under study in the feature space was analyzed using principle component analysis. The groups under study were shown to separate in full. Thus, the saliva analysis by the THz spectroscopy technique can be potentially used as a method of noninvasive diagnostics of the OLP.

Acute gastrointestinal vaso-occlusive ischemia in sickle cell disease: CT imaging features and clinical outcome.

PubMed

Gardner, Carly S; Jaffe, Tracy A

2016-03-01

The purpose of this study was to determine the incidence, specific imaging features, and outcome of gastrointestinal vaso-occlusive ischemia (GVOI) in sickle cell patients undergoing CT for acute abdominal pain. This HIPAA-compliant, IRB-approved retrospective study evaluated sickle cell patients with an abdominal pain crisis and acute gastrointestinal abnormalities on CT from 1/2006 to 1/2014. CT findings were divided into those compatible and incompatible with bowel ischemia or clinical diagnosis of GVOI. Two abdominal radiologists (1, 13 years' experience) reviewed the CTs for specific imaging features of ischemia. Clinical laboratory values (lactate, WBC) and outcome were recorded. Descriptive statistics and Wilcoxon-Mann-Whitney two-sample rank-sum test were performed. Of 217 CTs, 33 had acute gastrointestinal abnormalities: 75% (25/33) consistent with ischemia and clinical GVOI. Complications of ischemia occurred in 16% (4/25): ileus (50%), perforation (25%), and pneumatosis (25%). In uncomplicated cases, all had bowel wall thickening: segmental 52% (11/21) or diffuse 48% (10/21). The colon was commonly involved (76%, 16/21), particularly the ascending (57%, 12/21). Most abnormalities (52%, 11/21) were in the superior mesenteric artery distribution. Average lactate (4.3 ± 4.0 mmol/L, p = 0.02) and WBC count (20.1 ± 10.4, ×1000 cells/μL, p = 0.01) were significantly higher in GVOI. Overall mortality in patients with GVOI was 17% (3/18). GVOI is an important feature of the acute abdominal crisis in patients with sickle cell disease and can be seen in up to 75% of patients with abnormal bowel findings on CT. The diagnosis should be strongly considered in sickle cell patients with CT findings of diffuse or segmental bowel wall thickening, particularly involving the colon.

Clinical, immunophenotypic, and molecular characteristics of well-differentiated systemic mastocytosis.

PubMed

Álvarez-Twose, Iván; Jara-Acevedo, María; Morgado, José Mário; García-Montero, Andrés; Sánchez-Muñoz, Laura; Teodósio, Cristina; Matito, Almudena; Mayado, Andrea; Caldas, Carolina; Mollejo, Manuela; Orfao, Alberto; Escribano, Luis

2016-01-01

Well-differentiated systemic mastocytosis (WDSM) is a rare variant of systemic mastocytosis (SM) characterized by bone marrow (BM) infiltration by mature-appearing mast cells (MCs) often lacking exon 17 KIT mutations. Because of its rarity, the clinical and biological features of WDSM remain poorly defined. We sought to determine the clinical, biological, and molecular features of a cohort of 33 patients with mastocytosis in the skin in association with BM infiltration by well-differentiated MCs and to establish potential diagnostic criteria for WDSM. Thirty-three patients with mastocytosis in the skin plus BM aggregates of round, fully granulated MCs lacking strong CD25 and CD2 expression in association with clonal MC features were studied. Our cohort of patients showed female predominance (female/male ratio, 4:1) and childhood onset of the disease (91%) with frequent familial aggregation (39%). Skin involvement was heterogeneous, including maculopapular (82%), nodular (6%), and diffuse cutaneous (12%) mastocytosis. KIT mutations were detected in only 10 (30%) of 33 patients, including the KIT D816V (n = 5), K509I (n = 3), N819Y (n = 1), and I817V (n = 1) mutations. BM MCs displayed a unique immunophenotypic pattern consisting of increased light scatter features, overexpression of cytoplasmic carboxypeptidase, and aberrant expression of CD30, together with absent (79%) or low (21%) positivity for CD25, CD2, or both. Despite only 9 (27%) of 33 patients fulfilling the World Health Organization criteria for SM, our findings allowed us to establish the systemic nature of the disease, which fit with the definition of WDSM. WDSM represents a rare clinically and molecularly heterogeneous variant of SM that requires unique diagnostic criteria to avoid a misdiagnosis of cutaneous mastocytosis per current World Health Organization criteria. Copyright © 2015 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

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.

[Clinical features and management of acute myositis in idiopathic orbital inflammation].

PubMed

Halimi, E; Rosenberg, R; Wavreille, O; Bouckehove, S; Franquet, N; Labalette, P

2013-09-01

Acute myositis is the second most common component of non-specific orbital inflammation. We will describe its clinical features and natural history. This is a retrospective study of 10 cases. The diagnosis of acute myositis was based on clinical and imaging criteria. Our study includes five men and five women. The average age was 35.8 years (17-59 years). Clinical symptoms were: pain increased on eye movement (10/10), diplopia (4/10), proptosis (6/10), visual loss (3/10), lid edema (6/10), conjunctival hyperemia (7/10), anterior scleritis (2/10), episcleritis (2/10), chemosis (4/10), upper lid retraction (1/10), limitation of eye movement (3/10), fundus abnormalities (2/10). Imaging showed thickening of one or more extraocular muscles (10/10). Recovery was complete with anti-inflammatory therapy in six patients. Three patients experienced recurrence, and one patient had a clinical rebound upon tapering the treatment. Acute myositis can be defined by pain on eye movement, signs of inflammation, and extraocular muscle thickening on imaging. If the clinical presentation is typical, histopathological analysis can be deferred but remains necessary in cases of poor response to treatment, chronic duration or suspicion of tumor infiltration. The diagnosis of acute myositis may be suspected in the presence of consistent, well-defined clinical signs. Contiguous inflammation is often associated. Treatment is based on steroids or non-steroidal treatment anti-inflammatory therapy, administered alone or consecutively. Recurrences are frequent but do not alter the final prognosis. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

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).

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

PubMed

Shashi, Vandana; Pena, Loren D M; Kim, Katherine; Burton, Barbara; Hempel, Maja; Schoch, Kelly; Walkiewicz, Magdalena; McLaughlin, Heather M; Cho, Megan; Stong, Nicholas; Hickey, Scott E; Shuss, Christine M; Freemark, Michael S; Bellet, Jane S; Keels, Martha Ann; Bonner, Melanie J; El-Dairi, Maysantoine; Butler, Megan; Kranz, Peter G; Stumpel, Constance T R M; Klinkenberg, Sylvia; Oberndorff, Karin; Alawi, Malik; Santer, Rene; Petrovski, Slavé; Kuismin, Outi; Korpi-Heikkilä, Satu; Pietilainen, Olli; Aarno, Palotie; Kurki, Mitja I; Hoischen, Alexander; Need, Anna C; Goldstein, David B; Kortüm, Fanny

2016-10-06

The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline de novo truncating variants in ASXL1 and ASXL3 have been respectively implicated in causing Bohring-Opitz and Bainbridge-Ropers syndromes, which result in overlapping features of severe intellectual disability and dysmorphic features. ASXL2 has not yet been associated with a human Mendelian disorder. In this study, we performed whole-exome sequencing in six unrelated probands with developmental delay, macrocephaly, and dysmorphic features. All six had de novo truncating variants in ASXL2. A careful review enabled the recognition of a specific phenotype consisting of macrocephaly, prominent eyes, arched eyebrows, hypertelorism, a glabellar nevus flammeus, neonatal feeding difficulties, hypotonia, and developmental disabilities. Although overlapping features with Bohring-Opitz and Bainbridge-Ropers syndromes exist, features that distinguish the ASXL2-associated condition from ASXL1- and ASXL3-related disorders are macrocephaly, absence of growth retardation, and more variability in the degree of intellectual disabilities. We were also able to demonstrate with mRNA studies that these variants are likely to exert a dominant-negative effect, given that both alleles are expressed in blood and the mutated ASXL2 transcripts escape nonsense-mediated decay. In conclusion, de novo truncating variants in ASXL2 underlie a neurodevelopmental syndrome with a clinically recognizable phenotype. This report expands the germline disorders that are linked to the ASXL genes. Copyright © 2016. Published by Elsevier Inc.

Intramuscular Lipoma: A Review of the Literature

PubMed Central

McTighe, Shane; Chernev, Ivan

2014-01-01

Lipomas are the most common type of soft tissue mesenchymal tumors. They are typically located subcutaneously and consist of mature fatty tissue. When they occur under the enclosing fascia, they are called deep-seated lipomas. Infrequently, lipomas can arise inside the muscle and are called intramuscular lipomas. Intramuscular lipomas have been commonly investigated and categorized in the same group as other deep-seated and superficial lipomatous lesions. Their clinical, histological and imaging characteristics may resemble well-differentiated liposarcomas, further adding to the difficulties in the differential diagnosis. This article summarizes the available literature and describes the typical epidemiological, pathological and clinical features of intramuscular lipomas, as well as delineating their treatment and prognosis. PMID:25568733

Frontal lobe dementia and motor neuron disease.

PubMed Central

Neary, D; Snowden, J S; Mann, D M; Northen, B; Goulding, P J; Macdermott, N

1990-01-01

Four patients are described, in whom a profound and rapidly progressive dementia occurred in association with clinical features of motor neuron disease. The pattern of dementia indicated impaired frontal lobe function, confirmed by reduced tracer uptake in the frontal lobes on single photon emission computed tomography (SPECT). Pathological examination of the brains of two patients revealed frontal-lobe atrophy, with mild gliosis and spongiform change. The spinal cord changes were consistent with motor neuron disease. The clinical picture and pathological findings resembled those of dementia of frontal-lobe type and were distinct from those of Alzheimer's disease. The findings have implications for the understanding of the spectrum of non-Alzheimer forms of primary degenerative dementia. Images PMID:2303828

Decompression sickness in a vegetarian diver: are vegetarian divers at risk? A case report.

PubMed

van Hulst, Robert A; van der Kamp, Wim

2010-01-01

We present a case of a diver who suffered decompression sickness (DCS), but who also was a strict vegetarian for more than 10 years. He presented with symptoms of tingling of both feet and left hand, weakness in both legs and sensory deficits for vibration and propriocepsis after two deep dives with decompression. The initial clinical features of this case were most consistent with DCS, possibly because of a vulnerable spinal cord due to cobalamin deficiency neuropathy. This case illustrates the similarities between DCS and a clinically defined vitamin B12 deficiency. The pathophysiology of vitamin B12 deficiency and common pathology and symptoms of DCS are reviewed.

Lupus erythematosus and localized scleroderma coexistent at the same sites: a rare presentation of overlap syndrome of connective-tissue diseases.

PubMed

Pascucci, Anabella; Lynch, Peter J; Fazel, Nasim

2016-05-01

Overlap syndromes are known to occur with connective-tissue diseases (CTDs). Rarely, the overlap occurs at the same tissue site. We report the case of a patient with clinical and histopathologic findings consistent with the presence of discoid lupus erythematosus (DLE) and localized scleroderma within the same lesions. Based on our case and other reported cases in the literature, the following features are common in patients with an overlap of lupus erythematosus (LE) and localized scleroderma: predilection for young women, photodistributed lesions, DLE, linear morphology clinically, and positivity along the dermoepidermal junction on direct immunofluorescence. Most patients showed good response to antimalarials, topical steroids, or systemic steroids.

Suspected toxic shock-like syndrome in a dog with closed-cervix pyometra.

PubMed

Declercq, Jan

2007-02-01

Several cases of toxic shock-like syndrome (TSLS) have been reported in dogs but no inciting cause has been identified. TSLS associated with a closed-cervix pyometra was suspected in the reported bitch. The dog was evaluated for the complaint of generalized dermatopathy (erythema and oedema) and systemic signs with multiorganic involvement (depression, fever, immature neutrophilia, hypoalbuminaemia, renal disease, vomiting and diarrhoea). Histological features consistent with TSLS included superficial dermatitis with epidermal neutrophilic exocytosis and necrotic keratinocytes. The tentative diagnosis of TSLS was based on case history, clinical presentation, laboratory and histopathological findings, and the resolution of all clinical signs following surgical removal of the localized bacterial infection.

Spectrum of Celiac disease in Paediatric population: Experience of Tertiary Care Center from Pakistan.

PubMed

Aziz, Danish Abdul; Kahlid, Misha; Memon, Fozia; Sadiq, Kamran

2017-01-01

To determine clinical features and relevant laboratory investigations of patient with celiac disease (CD) and comparing classical celiac disease (CCD) with Non-diarrheal celiac disease (NDCD). This is a five years retrospective study conducted at The Aga Khan University Hospital Karachi, Pakistan from January 2010 to December 2015, enrolling children from one year to 15 years of either gender diagnosed as celiac disease in accordance with revised ESPGHAN criteria. Biopsy samples with grade 2 or more on Modified Marsh Classification were considered as consistent with celiac disease. Celiac patients were categorized into Classical celiac disease (with Chronic Diarrhea) and non-diarrheal celiac disease (Atypical celiac) and their clinical features and relevant laboratory investigations were documented. Total 66 patients were selected with celiac disease according to inclusion criteria, 39 (59.09%) patients were labeled as CCD and 27 (40.91%) patients were labeled as NDCD. Marsh grading 3a and above were more marked in CCD as compared to NDCD. Mean titer for Tissue transglutaminase antibodies (TTG) were higher in CCD group in comparison to NDCD group. In CCD, the most common clinical presentations were abdominal distension whereas in NDCD, the most remarkable features were recurrent abdominal pain (62.9%). Frequency of failure to thrive is significantly high in CCD (82.05%) but patients merely with short stature were more common in NDCD (33.3%). Refractory anemia was present in 66.6% patients in NDCD group and 41.1% patients in CCD group. 74.3% patients in CCD group were vitamin D deficient whereas 85% patient had vitamin D deficiency in NDCD group (p= 0.03). NDCD is not uncommon in our population. Recurrent abdominal pain, failure to thrive or patients only with short stature and refractory anemia are prominent features in NCDC group whereas abdominal distension, failure to thrive and recurrent abdominal pain were noticeable features in CCD. High grade histopathology and raised antibodies titer is hallmark of CCD. Vitamin D deficiency is almost equally present in both groups.

Making sense of progressive non-fluent aphasia: an analysis of conversational speech

PubMed Central

Woollams, Anna M.; Hodges, John R.; Patterson, Karalyn

2009-01-01

The speech of patients with progressive non-fluent aphasia (PNFA) has often been described clinically, but these descriptions lack support from quantitative data. The clinical classification of the progressive aphasic syndromes is also debated. This study selected 15 patients with progressive aphasia on broad criteria, excluding only those with clear semantic dementia. It aimed to provide a detailed quantitative description of their conversational speech, along with cognitive testing and visual rating of structural brain imaging, and to examine which, if any features were consistently present throughout the group; as well as looking for sub-syndromic associations between these features. A consistent increase in grammatical and speech sound errors and a simplification of spoken syntax relative to age-matched controls were observed, though telegraphic speech was rare; slow speech was common but not universal. Almost all patients showed impairments in picture naming, syntactic comprehension and executive function. The degree to which speech was affected was independent of the severity of the other cognitive deficits. A partial dissociation was also observed between slow speech with simplified grammar on the one hand, and grammatical and speech sound errors on the other. Overlap between these sets of impairments was however, the rule rather than the exception, producing continuous variation within a single consistent syndrome. The distribution of atrophy was remarkably variable, with frontal, temporal and medial temporal areas affected, either symmetrically or asymmetrically. The study suggests that PNFA is a coherent, well-defined syndrome and that varieties such as logopaenic progressive aphasia and progressive apraxia of speech may be seen as points in a space of continuous variation within progressive non-fluent aphasia. PMID:19696033

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

PubMed

Byrne, Susan; Jansen, Lara; U-King-Im, Jean-Marie; Siddiqui, Ata; Lidov, Hart G W; Bodi, Istvan; Smith, Luke; Mein, Rachael; Cullup, Thomas; Dionisi-Vici, Carlo; Al-Gazali, Lihadh; Al-Owain, Mohammed; Bruwer, Zandre; Al Thihli, Khalid; El-Garhy, Rana; Flanigan, Kevin M; Manickam, Kandamurugu; Zmuda, Erik; Banks, Wesley; Gershoni-Baruch, Ruth; Mandel, Hanna; Dagan, Efrat; Raas-Rothschild, Annick; Barash, Hila; Filloux, Francis; Creel, Donnell; Harris, Michael; Hamosh, Ada; Kölker, Stefan; Ebrahimi-Fakhari, Darius; Hoffmann, Georg F; Manchester, David; Boyer, Philip J; Manzur, Adnan Y; Lourenco, Charles Marques; Pilz, Daniela T; Kamath, Arveen; Prabhakar, Prab; Rao, Vamshi K; Rogers, R Curtis; Ryan, Monique M; Brown, Natasha J; McLean, Catriona A; Said, Edith; Schara, Ulrike; Stein, Anja; Sewry, Caroline; Travan, Laura; Wijburg, Frits A; Zenker, Martin; Mohammed, Shehla; Fanto, Manolis; Gautel, Mathias; Jungbluth, Heinz

2016-03-01

Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well as the neuronal phenotype of EPG5 knock-down in Drosophila melanogaster. We identified 39 different EPG5 mutations, most of them truncating and predicted to result in reduced EPG5 protein. Most mutations were private, but three recurrent mutations (p.Met2242Cysfs*5, p.Arg417*, and p.Gln336Arg) indicated possible founder effects. Presentation was mainly neonatal, with marked hypotonia and feeding difficulties. In addition to the five principal features (callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, and immune dysfunction), we identified three equally consistent features (profound developmental delay, progressive microcephaly, and failure to thrive). The manifestation of all eight of these features has a specificity of 97%, and a sensitivity of 89% for the presence of an EPG5 mutation and will allow informed decisions about genetic testing. Clinical progression was relentless and many children died in infancy. Survival analysis demonstrated a median survival time of 24 months (95% confidence interval 0-49 months), with only a 10th of patients surviving to 5 years of age. Survival outcomes were significantly better in patients with compound heterozygous mutations (P = 0.046), as well as in patients with the recurrent p.Gln336Arg mutation. Acquired microcephaly and regression of skills in long-term survivors suggests a neurodegenerative component superimposed on the principal neurodevelopmental defect. Two-thirds of patients had a severe seizure disorder, placing EPG5 within the rapidly expanding group of genes associated with early-onset epileptic encephalopathies. Consistent neuroradiological features comprised structural abnormalities, in particular callosal agenesis and pontine hypoplasia, delayed myelination and, less frequently, thalamic signal intensity changes evolving over time. Typical muscle biopsy features included fibre size variability, central/internal nuclei, abnormal glycogen storage, presence of autophagic vacuoles and secondary mitochondrial abnormalities. Nerve biopsy performed in one case revealed subtotal absence of myelinated axons. Post-mortem examinations in three patients confirmed neurodevelopmental and neurodegenerative features and multisystem involvement. Finally, downregulation of epg5 (CG14299) in Drosophila resulted in autophagic abnormalities and progressive neurodegeneration. We conclude that EPG5-related Vici syndrome defines a novel group of neurodevelopmental disorders that should be considered in patients with suggestive features in whom mitochondrial, glycogen, or lysosomal storage disorders have been excluded. Neurological progression over time indicates an intriguing link between neurodevelopment and neurodegeneration, also supported by neurodegenerative features in epg5-deficient Drosophila, and recent implication of other autophagy regulators in late-onset neurodegenerative disease. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain.

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

PubMed Central

Byrne, Susan; Jansen, Lara; U-King-Im, Jean-Marie; Siddiqui, Ata; Lidov, Hart G. W.; Bodi, Istvan; Smith, Luke; Mein, Rachael; Cullup, Thomas; Dionisi-Vici, Carlo; Al-Gazali, Lihadh; Al-Owain, Mohammed; Bruwer, Zandre; Al Thihli, Khalid; El-Garhy, Rana; Flanigan, Kevin M.; Manickam, Kandamurugu; Zmuda, Erik; Banks, Wesley; Gershoni-Baruch, Ruth; Mandel, Hanna; Dagan, Efrat; Raas-Rothschild, Annick; Barash, Hila; Filloux, Francis; Creel, Donnell; Harris, Michael; Hamosh, Ada; Kölker, Stefan; Ebrahimi-Fakhari, Darius; Hoffmann, Georg F.; Manchester, David; Boyer, Philip J.; Manzur, Adnan Y.; Lourenco, Charles Marques; Pilz, Daniela T.; Kamath, Arveen; Prabhakar, Prab; Rao, Vamshi K.; Rogers, R. Curtis; Ryan, Monique M.; Brown, Natasha J.; McLean, Catriona A.; Said, Edith; Schara, Ulrike; Stein, Anja; Sewry, Caroline; Travan, Laura; Wijburg, Frits A.; Zenker, Martin; Mohammed, Shehla; Fanto, Manolis; Gautel, Mathias

2016-01-01

Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well as the neuronal phenotype of EPG5 knock-down in Drosophila melanogaster. We identified 39 different EPG5 mutations, most of them truncating and predicted to result in reduced EPG5 protein. Most mutations were private, but three recurrent mutations (p.Met2242Cysfs*5, p.Arg417*, and p.Gln336Arg) indicated possible founder effects. Presentation was mainly neonatal, with marked hypotonia and feeding difficulties. In addition to the five principal features (callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, and immune dysfunction), we identified three equally consistent features (profound developmental delay, progressive microcephaly, and failure to thrive). The manifestation of all eight of these features has a specificity of 97%, and a sensitivity of 89% for the presence of an EPG5 mutation and will allow informed decisions about genetic testing. Clinical progression was relentless and many children died in infancy. Survival analysis demonstrated a median survival time of 24 months (95% confidence interval 0–49 months), with only a 10th of patients surviving to 5 years of age. Survival outcomes were significantly better in patients with compound heterozygous mutations (P = 0.046), as well as in patients with the recurrent p.Gln336Arg mutation. Acquired microcephaly and regression of skills in long-term survivors suggests a neurodegenerative component superimposed on the principal neurodevelopmental defect. Two-thirds of patients had a severe seizure disorder, placing EPG5 within the rapidly expanding group of genes associated with early-onset epileptic encephalopathies. Consistent neuroradiological features comprised structural abnormalities, in particular callosal agenesis and pontine hypoplasia, delayed myelination and, less frequently, thalamic signal intensity changes evolving over time. Typical muscle biopsy features included fibre size variability, central/internal nuclei, abnormal glycogen storage, presence of autophagic vacuoles and secondary mitochondrial abnormalities. Nerve biopsy performed in one case revealed subtotal absence of myelinated axons. Post-mortem examinations in three patients confirmed neurodevelopmental and neurodegenerative features and multisystem involvement. Finally, downregulation of epg5 (CG14299) in Drosophila resulted in autophagic abnormalities and progressive neurodegeneration. We conclude that EPG5-related Vici syndrome defines a novel group of neurodevelopmental disorders that should be considered in patients with suggestive features in whom mitochondrial, glycogen, or lysosomal storage disorders have been excluded. Neurological progression over time indicates an intriguing link between neurodevelopment and neurodegeneration, also supported by neurodegenerative features in epg5-deficient Drosophila, and recent implication of other autophagy regulators in late-onset neurodegenerative disease. PMID:26917586

General Similarities but Consistent Differences Between Early- and Late-Onset Depression Among Korean Adults Aged 40 and Older.

PubMed

Park, Jee Eun; Sohn, Ji Hoon; Seong, Su Jeong; Suk, Hye Won; Cho, Maeng Je

2015-08-01

Differences in clinical characteristics, symptomatology, and psychiatric comorbidity between early-onset depression (EOD) and late-onset depression (LOD) were examined in a nationwide representative sample. The Korean Composite International Diagnostic Interview was used to investigate psychiatric diagnoses and age of onset. A total of 319 subjects aged 40 years and older with a current major depressive disorder (MDD) were included, and both a continuous and a dichotomous (40 years) age-of-onset indicator were used in the analyses. Despite general similarities between groups, EOD was related to chronic (recurrent and longer episode) and severe (higher lifetime suicidality) clinical features. Hypersomnia and suicidal plans/attempts were associated with EOD, whereas anhedonia was related to LOD. Lifetime generalized anxiety disorder was associated with EOD, whereas dysthymic disorder was related with higher age of MDD onset. This study provides additional evidence of consistent differences between EOD and LOD among middle-aged and older Asians.

Clinical and microbiological correlates of vaginal trichomoniasis during pregnancy. The Vaginal Infections and Prematurity Study Group.

PubMed

Pastorek, J G; Cotch, M F; Martin, D H; Eschenbach, D A

1996-11-01

Colonization with Trichomonas vaginalis is a possible cause of poor pregnancy outcome. To facilitate the diagnosis of this condition during pregnancy, we conducted a prospective, multicenter study of 13,816 gravid women who were between 23rd and 26th week of gestation. Findings significantly associated with T. vaginalis colonization included a yellow, green, or bloody discharge from the vagina or cervix; abnormal odor after KOH was added to a vaginal specimen; a vaginal pH of > 5.0; and cervical friability. The amount of vaginal discharge and abnormal consistency of the discharge were also associated with T. vaginalis colonization. These findings (except for cervical bleeding and odor after the addition of KOH to a vaginal specimen, which may be influenced by the presence of other flora) are consistent with those reported elsewhere. The clinical usefulness of these features is minimal, and it is more significant that other microorganisms are makers for trichomoniasis; therefore, controlling for other flora is important in the investigation of T. vaginalis colonization.

Clinical Assessment of Self-Reported Acute Flaccid Paralysis in a Population-Based Setting in Guatemala

PubMed Central

Sejvar, James J.; Lindblade, Kim A.; Arvelo, Wences; Padilla, Norma; Pringle, Kimberly; Zielinski-Gutierrez, Emily; Farnon, Eileen; Schonberger, Lawrence B.; Dueger, Erica

2010-01-01

Historically, poliovirus infection has been an important cause of acute flaccid paralysis (AFP) worldwide; however, successful elimination of wild-type poliovirus in much of the world has highlighted the importance of other causes of AFP. Despite the evolving etiology, AFP surveillance in most developing countries still focuses on poliovirus detection and fails to detect many AFP cases, particularly among adults. We assessed 41 subjects self-reporting symptoms suggestive of AFP during a population-based health survey in the Department of Santa Rosa, Guatemala. Thirty-five (85%) of the suspected cases were not hospitalized. Most subjects (37) did not have features consistent with AFP or had other diagnoses explaining weakness. We identified two adults who had not received medical attention for a clinical illness consistent with Guillain-Barré syndrome, the most important cause of non-poliovirus AFP. Usual surveillance methods for AFP, particularly in developing countries, may underestimate the true burden of non-poliovirus AFP. PMID:20348524

Lethal Progressive Thoracic Insufficiency in a Neonate Due to Jarcho Levin Syndrome

PubMed Central

Bhutia, Euden; Maria, Arti; Verma, Arushi; Sethi, Sidharth Kumar

2014-01-01

A rare case of Jarcho Levin syndrome (JLS) presenting as a lethal progressive respiratory insufficiency in early neonatal period is reported. The neonate had classical features of this syndrome including vertebral segmentation defects, typical costo-vertebral fusion defects and scoliosis resulting in small thoracic volume and limited chest expansion; all consistent with a clinical diagnosis of JLS with thoracic insufficiency. In addition, our case had a rare association of dextrocardia and acyanotic congenital heart disease. PMID:24741543

Ebola virus disease in children during the 2014-2015 epidemic in Guinea: a nationwide cohort study.

PubMed

Chérif, Mahamoud Sama; Koonrungsesomboon, Nut; Kassé, Diénaba; Cissé, Sékou Ditinn; Diallo, Saliou Bella; Chérif, Fatoumata; Camara, Facély; Koné, Alpha; Avenido, Eleonor Fundan; Diakité, Mandiou; Diallo, Mamadou Pathé; Le Gall, Edouard; Cissé, Mohamed; Karbwang, Juntra; Hirayama, Kenji

2017-06-01

The most recent epidemic of Ebola virus disease (EVD) has resulted in more than 11,000 deaths in West Africa. It has threatened child health in the affected countries, including Guinea. This nationwide retrospective cohort study included all children under 20 years of age with laboratory-confirmed EVD in Guinea during the 2014-2015 Ebola outbreak for analysis. Of 8,448 children with probable or suspected EVD, 695 cases were laboratory-confirmed EVD. The overall case fatality rate (CFR) was 62.9%. Pediatric patients with younger age had a significantly higher rate of death (adjusted OR = 0.995; 95%CI = 0.990-1.000; p = 0.046), with the highest CFR of 82.9% in children aged less than 5 years. Fever (91%), fatigue (87%), and gastrointestinal signs and symptoms (70%) were common clinical features on admission of the pediatric patients, while bleeding signs were not occurring often (24%). None of clinical features and epidemiologic risk factors for Ebola were associated with mortality outcome in our cohort study. EVD is a major threat to child health, especially among children under 5 years of age. To date, none of demographic and clinical features, except younger age, have been consistently shown to affect mortality outcome in children infected with Ebola virus. What is Known: • The 2014-2015 West Africa Ebola epidemic is the largest and most widespread outbreak of Ebola virus disease (EVD) in history, with more than 11,000 deaths in Guinea, Liberia, and Sierra Leone. • During ongoing outbreak investigations, it is suggested that young children aged less than 5 years are particularly vulnerable and highly susceptible to death. What is New: • Demographic and clinical characteristics of the nationwide cohort of pediatric patients with laboratory-confirmed EVD in Guinea are reported. • The results confirm the high rate of death among EVD children under 5 years of age, while none of demographic and clinical features, except younger age, could serve as a predictor of mortality outcome in pediatric patients with EVD.

ACUTE RETINAL ARTERIAL OCCLUSIVE DISORDERS

PubMed Central

Hayreh, Sohan Singh

2011-01-01

The initial section deals with basic sciences; among the various topics briefly discussed are the anatomical features of ophthalmic, central retinal and cilioretinal arteries which may play a role in acute retinal arterial ischemic disorders. Crucial information required in the management of central retinal artery occlusion (CRAO) is the length of time the retina can survive following that. An experimental study shows that CRAO for 97 minutes produces no detectable permanent retinal damage but there is a progressive ischemic damage thereafter, and by 4 hours the retina has suffered irreversible damage. In the clinical section, I discuss at length various controversies on acute retinal arterial ischemic disorders. Classification of acute retinal arterial ischemic disorders These are of 4 types: CRAO, branch retinal artery occlusion (BRAO), cotton wools spots and amaurosis fugax. Both CRAO and BRAO further comprise multiple clinical entities. Contrary to the universal belief, pathogenetically, clinically and for management, CRAO is not one clinical entity but 4 distinct clinical entities – non-arteritic CRAO, non-arteritic CRAO with cilioretinal artery sparing, arteritic CRAO associated with giant cell arteritis (GCA) and transient non-arteritic CRAO. Similarly, BRAO comprises permanent BRAO, transient BRAO and cilioretinal artery occlusion (CLRAO), and the latter further consists of 3 distinct clinical entities - non-arteritic CLRAO alone, non-arteritic CLRAO associated with central retinal vein occlusion and arteritic CLRAO associated with GCA. Understanding these classifications is essential to comprehend fully various aspects of these disorders. Central retinal artery occlusion The pathogeneses, clinical features and management of the various types of CRAO are discussed in detail. Contrary to the prevalent belief, spontaneous improvement in both visual acuity and visual fields does occur, mainly during the first 7 days. The incidence of spontaneous visual acuity improvement during the first 7 days differs significantly (p<0.001) among the 4 types of CRAO; among them, in eyes with initial visual acuity of counting finger or worse, visual acuity improved, remained stable or deteriorated in nonarteritic CRAO in 22%, 66% and 12% respectively; in nonarteritic CRAO with cilioretinal artery sparing in 67%, 33% and none respectively; and in transient nonarteritic CRAO in 82%, 18% and none respectively. Arteritic CRAO shows no change. Recent studies have shown that administration of local intra-arterial thrombolytic agent not only has no beneficial effect but also can be harmful. Prevalent multiple misconceptions on CRAO are discussed. Branch retinal artery occlusion Pathogeneses, clinical features and management of various types of BRAO are discussed at length. The natural history of visual acuity outcome shows a final visual acuity of 20/40 or better in 89% of permanent BRAO cases, 100% of transient BRAO and 100% of nonarteritic CLRAO alone. Cotton wools spots These are common, non-specific acute focal retinal ischemic lesions, seen in many retinopathies. Their pathogenesis and clinical features are discussed in detail. Amaurosis fugax Its pathogenesis, clinical features and management are described. PMID:21620994

Automatic Classification of Tremor Severity in Parkinson's Disease Using a Wearable Device.

PubMed

Jeon, Hyoseon; Lee, Woongwoo; Park, Hyeyoung; Lee, Hong Ji; Kim, Sang Kyong; Kim, Han Byul; Jeon, Beomseok; Park, Kwang Suk

2017-09-09

Although there is clinical demand for new technology that can accurately measure Parkinsonian tremors, automatic scoring of Parkinsonian tremors using machine-learning approaches has not yet been employed. This study aims to fill this gap by proposing machine-learning algorithms as a way to predict the Unified Parkinson's Disease Rating Scale (UPDRS), which are similar to how neurologists rate scores in actual clinical practice. In this study, the tremor signals of 85 patients with Parkinson's disease (PD) were measured using a wrist-watch-type wearable device consisting of an accelerometer and a gyroscope. The displacement and angle signals were calculated from the measured acceleration and angular velocity, and the acceleration, angular velocity, displacement, and angle signals were used for analysis. Nineteen features were extracted from each signal, and the pairwise correlation strategy was used to reduce the number of feature dimensions. With the selected features, a decision tree (DT), support vector machine (SVM), discriminant analysis (DA), random forest (RF), and k -nearest-neighbor ( k NN) algorithm were explored for automatic scoring of the Parkinsonian tremor severity. The performance of the employed classifiers was analyzed using accuracy, recall, and precision, and compared to other findings in similar studies. Finally, the limitations and plans for further study are discussed.

Clinico-radiological features of subarachnoid hyperintensity on diffusion-weighted images in patients with meningitis.

PubMed

Kawaguchi, T; Sakurai, K; Hara, M; Muto, M; Nakagawa, M; Tohyama, J; Oguri, T; Mitake, S; Maeda, M; Matsukawa, N; Ojika, K; Shibamoto, Y

2012-04-01

To investigate the clinical and radiological features of meningitis with subarachnoid diffusion-weighted imaging (DWI) hyperintensity. The clinical features, laboratory data, and radiological findings, including the number and distribution of subarachnoid DWI hyperintense lesions and other radiological abnormalities, of 18 patients seen at five institutions were evaluated. The patients consisted of eight males and 10 females, whose ages ranged from 4 months to 82 years (median 65 years). Causative organisms were bacteria in 15 patients, including Haemophilus influenzae, Streptococcus pneumoniae, Streptococcus agalactiae, Staphylococcus aureus, Klebsiella pneumoniae, and Listeria monocytogenes. The remaining three were fungal meningitis caused by Cryptococcus neoformans. Subarachnoid DWI hyperintense lesions were multiple in 16 of the 18 cases (89%) and predominantly distributed around the frontal lobe in 16 of the 18 cases (89%). In addition to subarachnoid abnormality, subdural empyema, cerebral infarction, and intraventricular empyema were found in 50, 39, and 39%, respectively. Compared with paediatric patients, adult patients with bacterial meningitis tended to have poor prognoses (7/10 versus 1/5; p = 0.1). Both bacterial and fungal meningitis could cause subarachnoid hyperintensity on DWI, predominantly around the frontal lobe. This finding is often associated with poor prognosis in adult bacterial meningitis. Copyright © 2011 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.

Knowledge boosting: a graph-based integration approach with multi-omics data and genomic knowledge for cancer clinical outcome prediction

PubMed Central

Kim, Dokyoon; Joung, Je-Gun; Sohn, Kyung-Ah; Shin, Hyunjung; Park, Yu Rang; Ritchie, Marylyn D; Kim, Ju Han

2015-01-01

Objective Cancer can involve gene dysregulation via multiple mechanisms, so no single level of genomic data fully elucidates tumor behavior due to the presence of numerous genomic variations within or between levels in a biological system. We have previously proposed a graph-based integration approach that combines multi-omics data including copy number alteration, methylation, miRNA, and gene expression data for predicting clinical outcome in cancer. However, genomic features likely interact with other genomic features in complex signaling or regulatory networks, since cancer is caused by alterations in pathways or complete processes. Methods Here we propose a new graph-based framework for integrating multi-omics data and genomic knowledge to improve power in predicting clinical outcomes and elucidate interplay between different levels. To highlight the validity of our proposed framework, we used an ovarian cancer dataset from The Cancer Genome Atlas for predicting stage, grade, and survival outcomes. Results Integrating multi-omics data with genomic knowledge to construct pre-defined features resulted in higher performance in clinical outcome prediction and higher stability. For the grade outcome, the model with gene expression data produced an area under the receiver operating characteristic curve (AUC) of 0.7866. However, models of the integration with pathway, Gene Ontology, chromosomal gene set, and motif gene set consistently outperformed the model with genomic data only, attaining AUCs of 0.7873, 0.8433, 0.8254, and 0.8179, respectively. Conclusions Integrating multi-omics data and genomic knowledge to improve understanding of molecular pathogenesis and underlying biology in cancer should improve diagnostic and prognostic indicators and the effectiveness of therapies. PMID:25002459

Knowledge boosting: a graph-based integration approach with multi-omics data and genomic knowledge for cancer clinical outcome prediction.

PubMed

Kim, Dokyoon; Joung, Je-Gun; Sohn, Kyung-Ah; Shin, Hyunjung; Park, Yu Rang; Ritchie, Marylyn D; Kim, Ju Han

2015-01-01

Cancer can involve gene dysregulation via multiple mechanisms, so no single level of genomic data fully elucidates tumor behavior due to the presence of numerous genomic variations within or between levels in a biological system. We have previously proposed a graph-based integration approach that combines multi-omics data including copy number alteration, methylation, miRNA, and gene expression data for predicting clinical outcome in cancer. However, genomic features likely interact with other genomic features in complex signaling or regulatory networks, since cancer is caused by alterations in pathways or complete processes. Here we propose a new graph-based framework for integrating multi-omics data and genomic knowledge to improve power in predicting clinical outcomes and elucidate interplay between different levels. To highlight the validity of our proposed framework, we used an ovarian cancer dataset from The Cancer Genome Atlas for predicting stage, grade, and survival outcomes. Integrating multi-omics data with genomic knowledge to construct pre-defined features resulted in higher performance in clinical outcome prediction and higher stability. For the grade outcome, the model with gene expression data produced an area under the receiver operating characteristic curve (AUC) of 0.7866. However, models of the integration with pathway, Gene Ontology, chromosomal gene set, and motif gene set consistently outperformed the model with genomic data only, attaining AUCs of 0.7873, 0.8433, 0.8254, and 0.8179, respectively. Integrating multi-omics data and genomic knowledge to improve understanding of molecular pathogenesis and underlying biology in cancer should improve diagnostic and prognostic indicators and the effectiveness of therapies. © The Author 2014. Published by Oxford University Press on behalf of the American Medical Informatics Association.

Clinical Features of Auditory Hallucinations in Patients With Dementia With Lewy Bodies: A Soundtrack of Visual Hallucinations.

PubMed

Tsunoda, Naoko; Hashimoto, Mamoru; Ishikawa, Tomohisa; Fukuhara, Ryuji; Yuki, Seiji; Tanaka, Hibiki; Hatada, Yutaka; Miyagawa, Yusuke; Ikeda, Manabu

2018-05-08

Auditory hallucinations are an important symptom for diagnosing dementia with Lewy bodies (DLB), yet they have received less attention than visual hallucinations. We investigated the clinical features of auditory hallucinations and the possible mechanisms by which they arise in patients with DLB. We recruited 124 consecutive patients with probable DLB (diagnosis based on the DLB International Workshop 2005 criteria; study period: June 2007-January 2015) from the dementia referral center of Kumamoto University Hospital. We used the Neuropsychiatric Inventory to assess the presence of auditory hallucinations, visual hallucinations, and other neuropsychiatric symptoms. We reviewed all available clinical records of patients with auditory hallucinations to assess their clinical features. We performed multiple logistic regression analysis to identify significant independent predictors of auditory hallucinations. Of the 124 patients, 44 (35.5%) had auditory hallucinations and 75 (60.5%) had visual hallucinations. The majority of patients (90.9%) with auditory hallucinations also had visual hallucinations. Auditory hallucinations consisted mostly of human voices, and 90% of patients described them as like hearing a soundtrack of the scene. Multiple logistic regression showed that the presence of auditory hallucinations was significantly associated with female sex (P = .04) and hearing impairment (P = .004). The analysis also revealed independent correlations between the presence of auditory hallucinations and visual hallucinations (P < .001), phantom boarder delusions (P = .001), and depression (P = .038). Auditory hallucinations are common neuropsychiatric symptoms in DLB and usually appear as a background soundtrack accompanying visual hallucinations. Auditory hallucinations in patients with DLB are more likely to occur in women and those with impaired hearing, depression, delusions, or visual hallucinations. © Copyright 2018 Physicians Postgraduate Press, Inc.

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

Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases.

PubMed

Bueno, Anibal; Rodríguez-López, Rocío; Reyes-Palomares, Armando; Rojano, Elena; Corpas, Manuel; Nevado, Julián; Lapunzina, Pablo; Sánchez-Jiménez, Francisca; Ranea, Juan A G

2018-06-26

Copy number variations (CNVs) are genomic structural variations (deletions, duplications, or translocations) that represent the 4.8-9.5% of human genome variation in healthy individuals. In some cases, CNVs can also lead to disease, being the etiology of many known rare genetic/genomic disorders. Despite the last advances in genomic sequencing and diagnosis, the pathological effects of many rare genetic variations remain unresolved, largely due to the low number of patients available for these cases, making it difficult to identify consistent patterns of genotype-phenotype relationships. We aimed to improve the identification of statistically consistent genotype-phenotype relationships by integrating all the genetic and clinical data of thousands of patients with rare genomic disorders (obtained from the DECIPHER database) into a phenotype-patient-genotype tripartite network. Then we assessed how our network approach could help in the characterization and diagnosis of novel cases in clinical genetics. The systematic approach implemented in this work is able to better define the relationships between phenotypes and specific loci, by exploiting large-scale association networks of phenotypes and genotypes in thousands of rare disease patients. The application of the described methodology facilitated the diagnosis of novel clinical cases, ranking phenotypes by locus specificity and reporting putative new clinical features that may suggest additional clinical follow-ups. In this work, the proof of concept developed over a set of novel clinical cases demonstrates that this network-based methodology might help improve the precision of patient clinical records and the characterization of rare syndromes.

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.

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.

Internal Medicine residents use heuristics to estimate disease probability.

PubMed

Phang, Sen Han; Ravani, Pietro; Schaefer, Jeffrey; Wright, Bruce; McLaughlin, Kevin

2015-01-01

Training in Bayesian reasoning may have limited impact on accuracy of probability estimates. In this study, our goal was to explore whether residents previously exposed to Bayesian reasoning use heuristics rather than Bayesian reasoning to estimate disease probabilities. We predicted that if residents use heuristics then post-test probability estimates would be increased by non-discriminating clinical features or a high anchor for a target condition. We randomized 55 Internal Medicine residents to different versions of four clinical vignettes and asked them to estimate probabilities of target conditions. We manipulated the clinical data for each vignette to be consistent with either 1) using a representative heuristic, by adding non-discriminating prototypical clinical features of the target condition, or 2) using anchoring with adjustment heuristic, by providing a high or low anchor for the target condition. When presented with additional non-discriminating data the odds of diagnosing the target condition were increased (odds ratio (OR) 2.83, 95% confidence interval [1.30, 6.15], p = 0.009). Similarly, the odds of diagnosing the target condition were increased when a high anchor preceded the vignette (OR 2.04, [1.09, 3.81], p = 0.025). Our findings suggest that despite previous exposure to the use of Bayesian reasoning, residents use heuristics, such as the representative heuristic and anchoring with adjustment, to estimate probabilities. Potential reasons for attribute substitution include the relative cognitive ease of heuristics vs. Bayesian reasoning or perhaps residents in their clinical practice use gist traces rather than precise probability estimates when diagnosing.

A Clinic-based Survey of Clinical Characteristics and Practice Pattern of Dry Eye in Japan.

PubMed

Kawashima, Motoko; Yamada, Masakazu; Suwaki, Kazuhisa; Shigeyasu, Chika; Uchino, Miki; Hiratsuka, Yoshimune; Yokoi, Norihiko; Tsubota, Kazuo

2017-03-01

The aim of this study was to investigate the clinical characteristics and practice pattern of patients with dry eye disease (DED) in eye clinics across Japan. A multi-center, cross-sectional study was conducted among patients with DED who visited eye clinics in Japan. Subjective symptoms, patient's background, ocular surface features, and tear function were evaluated. Main outcome measures were tear break-up time (TBUT), Schirmer I value, kerato-conjunctival staining score, and dry eye symptom questionnaire score. Initially, 463 subjects were enrolled, and 449 cases (63 male and 386 female; mean age, 62.6 ± 15.7 years) were included in the final analysis. Overall, 94.9% of patients had a shortened TBUT (≤5 s), and 54.6% had an aqueous tear deficiency (Schirmer I value ≤5 mm). The most prevalent subtype of dry eye was aqueous-deficient dry eye, which was present in 35.0% of all patients, followed by short-BUT-type dry eye, which was seen in 26.7%. The two most common DED subtypes were aqueous-deficient and short-BUT-type dry eye. Shortened TBUT is the most common feature of dry eye, regardless of subtype. The current treatment choice mainly consisted of hyaluronic acid, two novel mucin secretagogues, diquafosol and rebamipide, and steroidal eye drops. University Hospital Medical Information Network: UMIN (registries no. UMIN 000015890). Japan Dry Eye Society, Tokyo, Japan, and Santen Pharmaceutical Co., Ltd., Osaka, Japan.

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.

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.

[Factors influencing the quality of clinical practice guidelines in ovarian cancer].

PubMed

Castillo-Londoño, J S; Medina-Torres, Y A; Sandoval-Salinas, C; Buitrago-Gutierrez, G; Torres-Ibargüen, M Z; Gonzalez-Rangel, A L

To identify the characteristics of the published clinical practice guidelines for the management of epithelial ovarian cancer that suggest a good methodological quality. A literature review was performed on 25 clinical practice guidelines for epithelial ovarian cancer that were identified in different databases (MEDLINE, Guidelines International Network, National Guidelines Clearing house) published between 2007 and 2014. The quality of the guidelines was evaluated using the Appraisal of Guidelines Research and Evaluation II tool. Descriptive and bivariate analyses were performed to assess the association between the quality of the guidelines and of some of their features and their developers. Just under half (48%) of the guidelines were rated as low quality. Scientific societies or independent centres and private funding, or under-reporting the source of funding, were statistically associated with lower quality of clinical practice guidelines (P<.01). The guidelines developed by National Program Guidelines had a median of consistently higher scores in all domains of the Appraisal of Guidelines Research and Evaluation II, with significant differences in the definition of scope and objectives, the participation of stakeholders, the methodological rigour of development, and applicability to the context. Features such as the nature of the developer and funding of the guidelines are predictors of quality that should be taken into account prior to the use of the recommendations of a document. Copyright © 2016 SECA. Publicado por Elsevier España, S.L.U. All rights reserved.

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.

Autoantibodies in pediatric systemic lupus erythematosus: ethnic grouping, cluster analysis, and clinical correlations.

PubMed

Jurencák, Roman; Fritzler, Marvin; Tyrrell, Pascal; Hiraki, Linda; Benseler, Susanne; Silverman, Earl

2009-02-01

(1) To evaluate the spectrum of serum autoantibodies in pediatric-onset systemic lupus erythematosus (pSLE) with a focus on ethnic differences; (2) using cluster analysis, to identify patients with similar autoantibody patterns and to determine their clinical associations. A single-center cohort study of all patients with newly diagnosed pSLE seen over an 8-year period was performed. Ethnicity, clinical, and serological data were prospectively collected from 156/169 patients (92%). The frequencies of 10 selected autoantibodies among ethnic groups were compared. Cluster analysis identified groups of patients with similar autoantibody profiles. Associations of these groups with clinical and laboratory features of pSLE were examined. Among our 5 ethnic groups, there were differences only in the prevalence of anti-U1RNP and anti-Sm antibodies, which occurred more frequently in non-Caucasian patients (p < 0.0001, p < 0.01, respectively). Cluster analysis revealed 3 autoantibody clusters. Cluster 1 consisted of anti-dsDNA antibodies. Cluster 2 consisted of anti-dsDNA, antichromatin, antiribosomal P, anti-U1RNP, anti-Sm, anti-Ro and anti-La autoantibody. Cluster 3 consisted of anti-dsDNA, anti-RNP, and anti-Sm autoantibody. The highest proportion of Caucasians was in cluster 1 (p < 0.05), which was characterized by a mild disease with infrequent major organ involvement compared to cluster 2, which had the highest frequency of nephritis, renal failure, serositis, and hemolytic anemia, or cluster 3, which was characterized by frequent neuropsychiatric disease and nephritis. We observed ethnic differences in autoantibody profiles in pSLE. Autoantibodies tended to cluster together and these clusters were associated with different clinical courses.

Phenotype in patients with intellectual disability and pathological results in array CGH.

PubMed

Caballero Pérez, V; López Pisón, F J; Miramar Gallart, M D; González Álvarez, A; García Jiménez, M C; García Iñiguez, J P; Orden Rueda, C; Gil Hernández, I; Fuertes Rodrigo, C; Fernando Martínez, R; Rodríguez Valle, A; Alcaine Villarroya, M J

Global developmental delay (GDD) and intellectual disability (ID) are frequent reasons for consultation in paediatric neurology departments. Nowadays, array comparative genomic hybridisation (array-CGH) is one of the most widely used techniques for diagnosing these disorders. Our purpose was to determine the phenotypic features associated with pathological results in this genetic test. We conducted a blind study of the epidemiological, clinical, anthropometric, and morphological features of 80 patients with unexplained ID to determine which features were associated with pathological results in array-CGH. Pathological results were found in 27.5% of the patients. Factors associated with pathological results in array-CGH were a family history of GDD/ID (OR = 12.1), congenital malformations (OR = 5.33), having more than 3 facial dysmorphic features (OR = 20.9), and hypotonia (OR = 3.25). Our findings are consistent with those reported by other published series. We therefore conclude that the probability of having pathological results in array-CGH increases with the presence of any of the features mentioned above in patients with ID/GDD. Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

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

A clinically useful self-report measure of the DSM-5 mixed features specifier of major depressive disorder.

PubMed

Zimmerman, Mark; Chelminski, Iwona; Young, Diane; Dalrymple, Kristy; Martinez, Jennifer H

2014-10-01

To acknowledge the clinical significance of manic features in depressed patients, DSM-5 included criteria for a mixed features specifier for major depressive disorder (MDD). In the present report from the Rhode Island Methods to Improve Diagnostic Assessment and Services (MIDAS) project we modified our previously published depression scale to include a subscale assessing the DSM-5 mixed features specifier. More than 1100 psychiatric outpatients with MDD or bipolar disorder completed the Clinically Useful Depression Outcome Scale (CUDOS) supplemented with questions for the DSM-5 mixed features specifier (CUDOS-M). To examine discriminant and convergent validity the patients were rated on clinician severity indices of depression, anxiety, agitation, and irritability. Discriminant and convergent validity was further examined in a subset of patients who completed other self-report symptom severity scales. Test-retest reliability was examined in a subset who completed the CUDOS-M twice. We compared CUDOS-M scores in patients with MDD, bipolar depression, and hypomania. The CUDOS-M subscale had high internal consistency and test-retest reliability, was more highly correlated with another self-report measure of mania than with measures of depression, anxiety, substance use problems, eating disorders, and anger, and was more highly correlated with clinician severity ratings of agitation and irritability than anxiety and depression. CUDOS-M scores were significantly higher in hypomanic patients than depressed patients, and patients with bipolar depression than patients with MDD. The study was cross-sectional, thus we did not examine whether the CUDOS-M detects emerging mixed symptoms when depressed patients are followed over time. Also, while we examined the correlation between the CUDOS-M and clinician ratings of agitation and irritability, we did not examine the association with a clinician measure of manic symptomatology such as the Young Mania Rating Scale In the present study of a large sample of psychiatric outpatients, the CUDOS-M was a reliable and valid measure of the DSM-5 mixed features specifier for MDD. Copyright © 2014 Elsevier B.V. All rights reserved.

[Clinical aspects, imaging and neuropathology of Kii ALS/PDC].

PubMed

Kokubo, Yasumasa

2007-11-01

During 1996 and 2006, we examined clinically 37 patients and neuropathologically 13 autopsy cases with amyotrophic lateral sclerosis/parkinsonism-dementia complex of the Kii peninsula (Kii ALS/PDC). The ages of onset were between 52 years and 74 years (mean age: 65.3 years). The male to female ratio was 1:1.85. The ratio of positive family history where ALS or PDC occurred within the fourth degree of the relatives was 78.4% in the patients with Kii ALS/PDC. The average duration of the illness was 6.47 years. Kii ALS/PDC was divided into five clinical subtypes, pure ALS form, ALS with dementia form, PDC with parkinsonism predominant form, PDC with dementia predominant form (that is called late-life dementia in Guam) and PDC with ALS features form. Unique pigmentary retinopathy was found in 33.3% of the patients with Kii ALS/PDC. CT/MRI images showed atrophy of the frontal and temporal lobes and SPECT images showed a decrease in the blood flow of the frontal and temporal lobes. The cardiac 123I-MIBG uptake was decreased in 4 out of 8 patients with ALS/PDC and the decrease in uptake correlated with the modified Hoehn-Yahr staging. The cardinal neuropathological features of Kii ALS/PDC were abundant neurofibrillary tangles (NFTs) associated with loss of nerve cells in the cerebral cortex and the brain stem, and findings of ALS neuropathology. Ultrastructurally, NFTs consisted of paired helical filaments. Tau protein, a main component of NFTs, was consisted of 3R and 4R tau isoforms, and phosphoryrated at 18 sites of tau phosphoryrated sites. The neurons of dentate gyrus of hippocampus and anterior horn cells were stained with anti-TDP-43 antibody. The clinical and neuropathological aspects of Kii ALS/PDC are regarded as being identical with those of Guam ALS/PDC.

Model-Free Conditional Independence Feature Screening For Ultrahigh Dimensional Data.

PubMed

Wang, Luheng; Liu, Jingyuan; Li, Yong; Li, Runze

2017-03-01

Feature screening plays an important role in ultrahigh dimensional data analysis. This paper is concerned with conditional feature screening when one is interested in detecting the association between the response and ultrahigh dimensional predictors (e.g., genetic makers) given a low-dimensional exposure variable (such as clinical variables or environmental variables). To this end, we first propose a new index to measure conditional independence, and further develop a conditional screening procedure based on the newly proposed index. We systematically study the theoretical property of the proposed procedure and establish the sure screening and ranking consistency properties under some very mild conditions. The newly proposed screening procedure enjoys some appealing properties. (a) It is model-free in that its implementation does not require a specification on the model structure; (b) it is robust to heavy-tailed distributions or outliers in both directions of response and predictors; and (c) it can deal with both feature screening and the conditional screening in a unified way. We study the finite sample performance of the proposed procedure by Monte Carlo simulations and further illustrate the proposed method through two real data examples.

Hepatocyte Paraffin 1 Antigen as a Biomarker for Early Diagnosis of Barrett Esophagus

PubMed Central

Jeung, Jennifer A.; Coran, Justin J.; Liu, Chen; Cardona, Diana M.

2013-01-01

We evaluated hepatocyte paraffin 1 (HepPar1) antigen expression, a sensitive marker of small intestinal differentiation, in combination with morphologic features to demonstrate intestinal differentiation in cases equivocal for Barrett esophagus (BE). Clinicopathologic features and HepPar1 expression were recorded for 54 BE cases, 45 consistent with reflux esophagitis (RE) cases, and 65 “suspicious” for BE (SBE) cases. The SBE category included RE cases with 2 or more morphologic changes associated with BE or metaplastic reaction to injury (eg, multilayered epithelium, squamous islands, goblet cell mimickers, pancreatic metaplasia). HepPar1 was expressed in all 54 BE cases, 4 of 45 RE cases, and 24 of 65 SBE cases. In SBE cases, 2 or more morphologic changes were associated with HepPar1 expression in 37% of cases (24/65), 3 or more features in 59% (13/22), and 4 or more features in 100% (4/4) (P ≤ .004). The combination of certain morphologic changes and HepPar1 expression in clinically suspicious distal esophageal biopsy cases without goblet cells supports the presence of evolving intestinal metaplasia. PMID:22180484

Classification of Exacerbation Frequency in the COPDGene Cohort Using Deep Learning with Deep Belief Networks.

PubMed

Ying, Jun; Dutta, Joyita; Guo, Ning; Hu, Chenhui; Zhou, Dan; Sitek, Arkadiusz; Li, Quanzheng

2016-12-21

This study aims to develop an automatic classifier based on deep learning for exacerbation frequency in patients with chronic obstructive pulmonary disease (COPD). A threelayer deep belief network (DBN) with two hidden layers and one visible layer was employed to develop classification models and the models' robustness to exacerbation was analyzed. Subjects from the COPDGene cohort were labeled with exacerbation frequency, defined as the number of exacerbation events per year. 10,300 subjects with 361 features each were included in the analysis. After feature selection and parameter optimization, the proposed classification method achieved an accuracy of 91.99%, using a 10-fold cross validation experiment. The analysis of DBN weights showed that there was a good visual spatial relationship between the underlying critical features of different layers. Our findings show that the most sensitive features obtained from the DBN weights are consistent with the consensus showed by clinical rules and standards for COPD diagnostics. We thus demonstrate that DBN is a competitive tool for exacerbation risk assessment for patients suffering from COPD.

Idiopathic Ophthalmodynia and Idiopathic Rhinalgia: A Prospective Series of 16 New Cases.

PubMed

Pareja, Juan A; Montojo, Teresa; Guerrero, Ángel L; Álvarez, Mónica; Porta-Etessam, Jesús; Cuadrado, María L

2015-01-01

Idiopathic ophthalmodynia and idiopathic rhinalgia were described a few years ago. These conditions seem specific pain syndromes with a distinctive location in the eye or in the nose. We aimed to present a new prospective series in order to verify the consistency of these syndromes. We performed a descriptive study of all patients referred to our regional neurologic clinics from 2010 to 2014 because of facial pain exclusively felt in the eye or in the nose fulfilling the proposed diagnostic criteria for idiopathic ophthalmodynia and idiopathic rhinalgia. There were 9 patients with idiopathic ophthalmodynia and 7 patients with idiopathic rhinalgia, with a clear female preponderance, and a mean age at onset in the fifth decade. The pain was usually moderate and the temporal pattern was generally chronic. Only one patient reported accompaniments (hypersensitivity to the light and to the flow of air in the symptomatic eye). Preventive treatment with amitriptyline, pregabalin, or gabapentin was partially or totally effective. The clinical features of this new series parallels those of the original description, thus indicating that both idiopathic ophthalmodynia and idiopathic rhinalgia have clear-cut clinical pictures with excellent consistency both inter- and intra-individually. © 2015 American Headache Society.

Inverse optimization of objective function weights for treatment planning using clinical dose-volume histograms

NASA Astrophysics Data System (ADS)

Babier, Aaron; Boutilier, Justin J.; Sharpe, Michael B.; McNiven, Andrea L.; Chan, Timothy C. Y.

2018-05-01

We developed and evaluated a novel inverse optimization (IO) model to estimate objective function weights from clinical dose-volume histograms (DVHs). These weights were used to solve a treatment planning problem to generate ‘inverse plans’ that had similar DVHs to the original clinical DVHs. Our methodology was applied to 217 clinical head and neck cancer treatment plans that were previously delivered at Princess Margaret Cancer Centre in Canada. Inverse plan DVHs were compared to the clinical DVHs using objective function values, dose-volume differences, and frequency of clinical planning criteria satisfaction. Median differences between the clinical and inverse DVHs were within 1.1 Gy. For most structures, the difference in clinical planning criteria satisfaction between the clinical and inverse plans was at most 1.4%. For structures where the two plans differed by more than 1.4% in planning criteria satisfaction, the difference in average criterion violation was less than 0.5 Gy. Overall, the inverse plans were very similar to the clinical plans. Compared with a previous inverse optimization method from the literature, our new inverse plans typically satisfied the same or more clinical criteria, and had consistently lower fluence heterogeneity. Overall, this paper demonstrates that DVHs, which are essentially summary statistics, provide sufficient information to estimate objective function weights that result in high quality treatment plans. However, as with any summary statistic that compresses three-dimensional dose information, care must be taken to avoid generating plans with undesirable features such as hotspots; our computational results suggest that such undesirable spatial features were uncommon. Our IO-based approach can be integrated into the current clinical planning paradigm to better initialize the planning process and improve planning efficiency. It could also be embedded in a knowledge-based planning or adaptive radiation therapy framework to automatically generate a new plan given a predicted or updated target DVH, respectively.

Inverse optimization of objective function weights for treatment planning using clinical dose-volume histograms.

PubMed

Babier, Aaron; Boutilier, Justin J; Sharpe, Michael B; McNiven, Andrea L; Chan, Timothy C Y

2018-05-10

We developed and evaluated a novel inverse optimization (IO) model to estimate objective function weights from clinical dose-volume histograms (DVHs). These weights were used to solve a treatment planning problem to generate 'inverse plans' that had similar DVHs to the original clinical DVHs. Our methodology was applied to 217 clinical head and neck cancer treatment plans that were previously delivered at Princess Margaret Cancer Centre in Canada. Inverse plan DVHs were compared to the clinical DVHs using objective function values, dose-volume differences, and frequency of clinical planning criteria satisfaction. Median differences between the clinical and inverse DVHs were within 1.1 Gy. For most structures, the difference in clinical planning criteria satisfaction between the clinical and inverse plans was at most 1.4%. For structures where the two plans differed by more than 1.4% in planning criteria satisfaction, the difference in average criterion violation was less than 0.5 Gy. Overall, the inverse plans were very similar to the clinical plans. Compared with a previous inverse optimization method from the literature, our new inverse plans typically satisfied the same or more clinical criteria, and had consistently lower fluence heterogeneity. Overall, this paper demonstrates that DVHs, which are essentially summary statistics, provide sufficient information to estimate objective function weights that result in high quality treatment plans. However, as with any summary statistic that compresses three-dimensional dose information, care must be taken to avoid generating plans with undesirable features such as hotspots; our computational results suggest that such undesirable spatial features were uncommon. Our IO-based approach can be integrated into the current clinical planning paradigm to better initialize the planning process and improve planning efficiency. It could also be embedded in a knowledge-based planning or adaptive radiation therapy framework to automatically generate a new plan given a predicted or updated target DVH, respectively.

Reversible posterior leucoencephalopathy syndrome in a peripartum patient.

PubMed

Prout, R E; Tuckey, J P; Giffen, N J

2007-01-01

We present the case of a multiparous parturient who developed hypertension associated with a severe headache in the immediate post-partum period. She subsequently suffered a generalised tonic clonic seizure on the fifth post-partum day. Following recovery of consciousness, she developed a left homonymous hemianopia. Apart from hypertension, headache and convulsion, she had no symptoms and no proteinuria or other biochemical or haematological changes associated with eclampsia. The magnetic resonance imaging findings were consistent with vasogenic oedema in the right posterior parieto-occipital white matter and these in turn are consistent with reversible posterior leucoencephalopathy syndrome. The differential diagnosis of convulsions in the post-partum period is discussed and the clinical and radiological features of reversible posterior leucoencephalopathy syndrome are described.

Calcific retropharyngeal tendinitis. [Radiological findings

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

Karasick, D.; Karasick, S.

1981-12-01

Calcific retropharyngeal tendinitis is an imflammation of the longus colli muscle tendon which is located on the anterior surface of the verterbral column extending from the atlas to the third thoracic vertebra. The acute inflammatory condition is selflimiting with symptoms consisting of a gradually increasing neck pain often associated with throat pain and difficulty swallowing. The pain is aggravated by head and neck movement. Clinically the condition can be confused with retropharyngeal absecess, meningitis, infectious spondylitis, and post-traumatic muscle spasm. The radiographic features of this condition consist of pre-vertebral soft tissue swelling from C1 to C4 and amorphous calcific densitymore » in the longus colli tendon anterior to the body of C2 and inferior to the anterior arch of C1.« less

A patient with Melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report

PubMed Central

Al Kaissi, Ali; Skoumal, Martin; Roetzer, Katharina; Grill, Franz; Klaushofer, Klaus

2008-01-01

Introduction A case of melorheostosis in association with tricho-dento-osseous (TDO) syndrome has been encountered. Case presentation The clinical and the radiographic manifestations of melorheostosis have been encountered in a 41-year-old man. Mutations in the 13 exons and flanking intronic regions of the LEMD3-gene have not been detected. His phenotypic features were consistent but not completely diagnostic for tricho-dento-osseous syndrome (TDO). We report what might be a novel syndromic association. Conclusion Melorheostosis has not previously been reported to be a part of TDO and an extensive review of the literature suggests that the constellation of hair, tooth and bone abnormalities found in our patient either represents an unusual variant of tricho-dento-osseous syndrome or a new syndrome. PMID:18284671

Excimer laser: a module of the alopecia areata common protocol.

PubMed

McMichael, Amy J

2013-12-01

Alopecia areata (AA) is an autoimmune condition characterized by T cell-mediated attack of the hair follicle. The inciting antigenic stimulus is unknown. A dense perbulbar lymphocytic infiltrate and reproducible immunologic abnormalities are hallmark features of the condition. The cellular infiltrate primarily consists of activated T lymphocytes and antigen-presenting Langerhans cells. The xenon chloride excimer laser emits its total energy at the wavelength of 308 nm and therefore is regarded as a "super-narrowband" UVB light source. Excimer laser treatment is highly effective in psoriasis, another T cell-mediated disorder that shares many immunologic features with AA. The excimer laser is superior in inducing T cell apoptosis in vitro compared with narrowband UVB, with paralleled improved clinical efficacy. The excimer laser has been used successfully in patients with AA. In this context, evaluation of the potential benefit of 308-nm excimer laser therapy in the treatment of AA is clinically warranted. Herein, the use of a common treatment protocol with a specifically designed module to study the outcome of excimer laser treatment on moderate-to-severe scalp AA in adults is described.

Recent insights into C3 glomerulopathy

PubMed Central

Barbour, Thomas D.; Pickering, Matthew C.; Cook, H. Terence

2013-01-01

‘C3 glomerulopathy’ is a recent disease classification comprising several rare types of glomerulonephritis (GN), including dense deposit disease (DDD), C3 glomerulonephritis (C3GN) and CFHR5 nephropathy. These disorders share the key histological feature of isolated complement C3 deposits in the glomerulus. A common aetiology involving dysregulation of the alternative pathway (AP) of complement has been elucidated in the past decade, with genetic defects and/or autoantibodies able to be identified in a proportion of patients. We review the clinical and histological features of C3 glomerulopathy, relating these to underlying molecular mechanisms. The role of uncontrolled C3 activation in pathogenesis is emphasized, with important lessons from animal models. Methods, advantages and limitations of gene testing in the assessment of individuals or families with C3 glomerulopathy are discussed. While no therapy has yet been shown consistently effective, clinical evaluation of agents targeting specific components of the complement system is ongoing. However, limits to current knowledge regarding the natural history and the appropriate timing and duration of proposed therapies need to be addressed. PMID:23479095

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.

1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development.

PubMed

Misceo, D; Barøy, T; Helle, J R; Braaten, O; Fannemel, M; Frengen, E

2012-10-01

Several Wolf-Hirschhorn syndrome patients have been studied, mouse models for a few candidate genes have been constructed and two WHS critical regions have been postulated, but the molecular basis of the syndrome remains poorly understood. Single gene contributions to phenotypes of microdeletion syndromes have often been based on the study of patients carrying small, atypical deletions. We report a 5-year-old girl harboring an atypical 1.5Mb del4p16.3 and review seven previously published patients carrying a similar deletion. They show a variable clinical presentation and the only consistent feature is post-natal growth delay. However, four of eight patients carry a ring (4), and ring chromosomes in general are associated with growth deficiency. The Greek helmet profile is absent, although a trend towards common dysmorphic features exists. Variable expressivity and incomplete penetrance might play a role in WHS, resulting in difficult clinical diagnosis and challenge in understanding of the genotype/phenotype correlation. Copyright © 2012 Elsevier B.V. All rights reserved.

Structural study and conformational behavior of the two different lipopolysaccharide O-antigens produced by the cystic fibrosis pathogen Burkholderia multivorans.

PubMed

Ieranò, Teresa; Silipo, Alba; Cescutti, Paola; Leone, Maria Rosaria; Rizzo, Roberto; Lanzetta, Rosa; Parrilli, Michelangelo; Molinaro, Antonio

2009-07-20

Lipopolysaccharides (LPSs) are virulence factors expressed by gram-negative bacteria; they are among those mainly responsible for bacterial virulence. In this work we define the primary structure and the conformational features of the O-chain from the LPS produced by the highly virulent clinical isolate Burkholderia multivorans strain C1576, an opportunistic human pathogen isolated in a cystic fibrosis center and causative of an outbreak with lethal outcome. We demonstrate that the LPS from this clinical isolate consists of two O-polysaccharide chains present in different amounts and made up of repeating units, both containing deoxy sugar. Additionally, conformational studies have been performed to establish and compare the spatial arrangements of the two polysaccharides and differences in their shape have been highlighted. The comprehension of the structural and conformational features of the two repeating units may help to explain their biological significance, the molecular shape of the bacterial external surface, and the comprehension at the molecular level of the recognition mechanisms of the antibodies.

MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases.

PubMed

Cheng, Ailan; Han, Lianshu; Feng, Yun; Li, Huimin; Yao, Rong; Wang, Dengbin; Jin, Biao

2017-01-01

We aimed to evaluate the magnetic resonance imaging (MRI) and clinical features of maple syrup urine disease (MSUD). This retrospective study consisted of 10 MSUD patients confirmed by genetic testing. All patients underwent brain MRI. Phenotype, genotype, and areas of brain injury on MRI were retrospectively reviewed. Six patients (60%) had the classic form of MSUD with BCKDHB mutation, three patients (30%) had the intermittent form (two with BCKDHA mutations and one with DBT mutation), and one patient (10%) had the thiamine-responsive form with DBT mutation. On diffusion-weighted imaging, nine cases presented restricted diffusion in myelinated areas, and one intermittent case with DBT mutation was normal. The classic form of MSUD involved the basal ganglia in six cases; the cerebellum, mesencephalon, pons, and supratentorial area in five cases; and the thalamus in four cases, respectively. The intermittent form involved the cerebellum, pons, and supratentorial area in two cases. The thiamine-responsive form involved the basal ganglia and supratentorial area. Our preliminary results indicate that patients with MSUD presented more commonly in classic form with BCKDHB mutation and displayed extensive brain injury on MRI.

A case of oculo-cerebral B-cell lymphoma in a cat.

PubMed

Giordano, Cristina; Giudice, Chiara; Bellino, Claudio; Borrelli, Antonio; D'Angelo, Antonio; Gianella, Paola

2013-01-01

To describe a case of a cat with primary B-cell lymphoma affecting the eye and brain and which shared features similar to oculo-cerebral lymphoma in humans. A 13-year-old castrated male Persian cat presented with clinical signs of anterior uveitis and increased intraocular pressure (IOP) in the left eye (OS). A complete diagnostic work-up was declined, and left-eye enucleation was performed. The globe was submitted for histopathology. One week after surgery, the cat became inappetent, hypothermic, and aggressive. Euthanasia was requested by the owner, and a necropsy was permitted.   Histopathology of the enucleated globe revealed an extensive neoplastic infiltration consistent with large-cell lymphoma, affecting the anterior uvea, neuroretina and optic nerve. At necropsy, all organs were unremarkable except for the brain, where there was a neoplastic cell population consistent with that described in the left eye, infiltrated and expanded meninges, and perivascular spaces. Immunohistochemically, the neoplastic cells were positive for B-cell marker (CD20) and negative for T-cell marker (CD3). Histology and immunophenotyping suggested a diagnosis of primary central nervous system and ocular large B-cell lymphoma. The lymphoma in this cat resembled oculo-cerebral lymphoma in humans, sharing similar clinical features and histopathological findings, including the perivascular pattern of neoplastic cell infiltration. To the best of the authors' knowledge, this is the first description of a primary oculo-cerebral B-cell lymphoma in a cat. © 2012 American College of Veterinary Ophthalmologists.

Incidence of reactive hyperplastic lesions in the oral cavity: a 10 year retrospective study in Santa Catarina, Brazil.

PubMed

Dutra, Kamile Leonardi; Longo, Lunardo; Grando, Liliane Janete; Rivero, Elena Riet Correa

2018-04-17

Reactive hyperplastic lesions develop in response to a chronic injury simulating an exuberant tissue repair response. They represent some of the most common oral lesions including inflammatory fibrous hyperplasia, oral pyogenic granuloma, giant cell fibroma, peripheral ossifying fibroma, and peripheral giant cell lesions. The incidence of those lesions was investigated in an oral pathology service, and the clinical characteristics, associated etiological factors, concordance between the clinical and histopathological diagnostic was determined. A total of 2400 patient records were screened from 2006 to 2016. Clinical features were recorded from biopsy reports and patients' files. A total of 534 cases of reactive hyperplastic lesions were retrieved and retrospectively studied, representing 22.25% of all diagnoses. The most frequent lesion was inflammatory fibrous hyperplasia (72.09%), followed by oral pyogenic granuloma (11.79%), giant cell fibroma (7.30%), peripheral ossifying fibroma (5.24%), and peripheral giant cell lesions (3.55%). Females were predominantly affected (74.19%), the gingiva and alveolar ridge were the predominant anatomical site (32.89%), and chronic traumatism was presented as the main etiological factor. The age widely ranges from the 1st decade of life to the 7th. Clinically, the reactive hyperplastic lesions consisted of small lesions (0.5-2cm) and shared a strong likeness in color to the oral mucosa. The concordance between the clinical and histopathological diagnostic was high (82.5%). Reactive hyperplastic lesions had a high incidence among oral pathologies. The understanding of their clinical features helps to achieve a clearer clinical and etiological diagnosis, and the knowledge of factors related to their development. This may contribute to adequate treatment and positive prognosis. Copyright © 2018 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

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

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome

PubMed Central

O'Grady, Gina L.; Verschuuren, Corien; Yuen, Michaela; Webster, Richard; Menezes, Manoj; Fock, Johanna M.; Pride, Natalie; Best, Heather A.; Benavides Damm, Tatiana; Turner, Christian; Lek, Monkol; Engel, Andrew G.; North, Kathryn N.; Clarke, Nigel F.; MacArthur, Daniel G.; Kamsteeg, Erik-Jan

2016-01-01

Objective: To describe the clinical and genetic characteristics of presynaptic congenital myasthenic syndrome secondary to biallelic variants in SLC18A3. Methods: Individuals from 2 families were identified with biallelic variants in SLC18A3, the gene encoding the vesicular acetylcholine transporter (VAChT), through whole-exome sequencing. Results: The patients demonstrated features seen in presynaptic congenital myasthenic syndrome, including ptosis, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water for patient 1. Both patients demonstrated moderate clinical improvement on pyridostigmine. Patient 1 had a broader phenotype, including learning difficulties and left ventricular dysfunction. Electrophysiologic studies were typical for a presynaptic defect. Both patients showed profound electrodecrement on low-frequency repetitive stimulation followed by a prolonged period of postactivation exhaustion. In patient 1, this was unmasked only after isometric contraction, a recognized feature of presynaptic disease, emphasizing the importance of activation procedures. Conclusions: VAChT is responsible for uptake of acetylcholine into presynaptic vesicles. The clinical and electrographic characteristics of the patients described are consistent with previously reported mouse models of VAChT deficiency. These findings make it very likely that defects in VAChT due to variants in SLC18A3 are a cause of congenital myasthenic syndrome in humans. PMID:27590285

SU-C-207B-06: Comparison of Registration Methods for Modeling Pathologic Response of Esophageal Cancer to Chemoradiation Therapy

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

Riyahi, S; Choi, W; Bhooshan, N

2016-06-15

Purpose: To compare linear and deformable registration methods for evaluation of tumor response to Chemoradiation therapy (CRT) in patients with esophageal cancer. Methods: Linear and multi-resolution BSpline deformable registration were performed on Pre-Post-CRT CT/PET images of 20 patients with esophageal cancer. For both registration methods, we registered CT using Mean Square Error (MSE) metric, however to register PET we used transformation obtained using Mutual Information (MI) from the same CT due to being multi-modality. Similarity of Warped-CT/PET was quantitatively evaluated using Normalized Mutual Information and plausibility of DF was assessed using inverse consistency Error. To evaluate tumor response four groupsmore » of tumor features were examined: (1) Conventional PET/CT e.g. SUV, diameter (2) Clinical parameters e.g. TNM stage, histology (3)spatial-temporal PET features that describe intensity, texture and geometry of tumor (4)all features combined. Dominant features were identified using 10-fold cross-validation and Support Vector Machine (SVM) was deployed for tumor response prediction while the accuracy was evaluated by ROC Area Under Curve (AUC). Results: Average and standard deviation of Normalized mutual information for deformable registration using MSE was 0.2±0.054 and for linear registration was 0.1±0.026, showing higher NMI for deformable registration. Likewise for MI metric, deformable registration had 0.13±0.035 comparing to linear counterpart with 0.12±0.037. Inverse consistency error for deformable registration for MSE metric was 4.65±2.49 and for linear was 1.32±2.3 showing smaller value for linear registration. The same conclusion was obtained for MI in terms of inverse consistency error. AUC for both linear and deformable registration was 1 showing no absolute difference in terms of response evaluation. Conclusion: Deformable registration showed better NMI comparing to linear registration, however inverse consistency of transformation was lower in linear registration. We do not expect to see significant difference when warping PET images using deformable or linear registration. This work was supported in part by the National Cancer Institute Grants R01CA172638.« less

Digital and smart chest drainage systems to monitor air leaks: the birth of a new era?

PubMed

Cerfolio, Robert J; Varela, Gonzalo; Brunelli, Alessandro

2010-08-01

Recently, several companies have manufactured and commercialized new pleural drainage units that incorporate electronic components for the digital quantification of air through chest tubes and, in some instances, pleural pressure assessment. The goal of these systems is to objectify this previously subjective bedside clinical parameter and allow for more objective, consistent measurement of air leaks. The belief is this will lead to quicker and more accurate chest tube management. In addition, some systems feature portable suction devices. These may afford earlier mobilization of patients because the pleural drainage chamber is attached to a battery-powered smart suction device. In this article we review the clinical experiences using these new devices. Copyright 2010 Elsevier Inc. All rights reserved.

Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies.

PubMed

Brancati, Francesco; Castori, Marco; Mingarelli, Rita; Dallapiccola, Bruno

2005-12-15

We report on a 2 9/12-year-old boy with disproportionate short stature, microcephaly, subtle craniofacial dysmorphisms, and generalized skeletal dysplasia, who developed a left hemiparesis. Brain neuroimaging disclosed a complex cerebral vascular anomaly (CVA) with stenosis of the right anterior cerebral artery and telangiectatic collateral vessels supplying the cerebral cortex, consistent with moyamoya disease. Based on clinical and skeletal features, a diagnosis of Majewski osteodysplastic primordial dwarfism type II (MOPD II) was established. Review of 16 published patients with CVA affected by either Seckel syndrome or MOPD II suggested that CVA is preferentially associated to the latter subtype affecting about 1/4 of the patients. 2005 Wiley-Liss, Inc.

Coats' disease and congenital retinoschisis in a single eye: a case report and DNA analysis.

PubMed

Berinstein, D M; Hiraoka, M; Trese, M T; Shastry, B S

2001-01-01

The clinical features of Coats' disease and congenital retinoschisis (RS) are distinctly different. Therefore, finding changes consistent with Coats' disease and congenital RS in a single eye is an unusual occurrence. The following report describes two cases with a Coats' telangiectatic lesion in one region of the retina separated by normal retina and the presence of central and peripheral congenital RS. Molecular genetic analysis of the Norrie disease and RS genes failed to identify disease-causing or polymorphic mutations in either of the genes, suggesting that the above condition is clinically and genetically a different disorder. Further studies are needed to identify the genes responsible for the above disorder and associated ocular manifestations. Copyright 2001 S. Karger AG, Basel.

Late summer sea ice segmentation with multi-polarisation SAR features in C- and X-band

NASA Astrophysics Data System (ADS)

Fors, A. S.; Brekke, C.; Doulgeris, A. P.; Eltoft, T.; Renner, A. H. H.; Gerland, S.

2015-09-01

In this study we investigate the potential of sea ice segmentation by C- and X-band multi-polarisation synthetic aperture radar (SAR) features during late summer. Five high-resolution satellite SAR scenes were recorded in the Fram Strait covering iceberg-fast first-year and old sea ice during a week with air temperatures varying around zero degrees Celsius. In situ data consisting of sea ice thickness, surface roughness and aerial photographs were collected during a helicopter flight at the site. Six polarimetric SAR features were extracted for each of the scenes. The ability of the individual SAR features to discriminate between sea ice types and their temporally consistency were examined. All SAR features were found to add value to sea ice type discrimination. Relative kurtosis, geometric brightness, cross-polarisation ratio and co-polarisation correlation angle were found to be temporally consistent in the investigated period, while co-polarisation ratio and co-polarisation correlation magnitude were found to be temporally inconsistent. An automatic feature-based segmentation algorithm was tested both for a full SAR feature set, and for a reduced SAR feature set limited to temporally consistent features. In general, the algorithm produces a good late summer sea ice segmentation. Excluding temporally inconsistent SAR features improved the segmentation at air temperatures above zero degrees Celcius.

Maximizing Patient Recruitment and Retention in a Secondary Stroke Prevention Clinical Trial: Lessons Learned from the STAND FIRM Study.

PubMed

Thayabaranathan, Tharshanah; Cadilhac, Dominique A; Srikanth, Velandai K; Fitzgerald, Sharyn M; Evans, Roger G; Kim, Joosup; Gerraty, Richard P; Phan, Thanh G; Bladin, Christopher F; Nelson, Mark R; Frayne, Judith H; Thrift, Amanda G

2016-06-01

Recruitment and retention of patients in a clinical trial is important for generalizability and robustness of findings. We aimed to investigate features of a study design that were associated with recruitment and retention in a Phase II and Phase III trial of a secondary prevention program for stroke. Following informed consent in hospital, Phase II participants were randomized to intervention or usual care. Baseline clinical assessments were conducted at home approximately 3 months after discharge. In Phase III study, informed consent was obtained at home. We compared the characteristics of participants recruited and retained to 12 months for both phases. Interviews with study nurses were undertaken in order to ascertain their opinions of features of study design. Triangulation was used to identify the features of study design that nurses thought had improved recruitment and retention. All 24 eligible participants were recruited to the Phase II pilot study (100% recruitment), with 67% retention at 12 months. In Phase III study, 570 participants were recruited, and 93% of these participants had reached their 12-month assessment (n = 532) and were still participating. Consistent with the greater patient retention in Phase III study, nurses reported that patients' willingness to participate was greater when consent was obtained at home. Following a change in the consent process from hospital to home, more participants continued participation to 12 months. Pilot studies can provide important data to improve study design and better understand potential barriers to recruitment and retention. Copyright © 2016 National Stroke Association. Published by Elsevier Inc. All rights reserved.

Behçet's disease patients with multiple sclerosis-like features: discriminative value of Barkhof criteria.

PubMed

Akman-Demir, Gulsen; Mutlu, Melike; Kiyat-Atamer, Asli; Shugaiv, Erkingul; Kurtuncu, Murat; Tugal-Tutkun, Ilknur; Tuzun, Erdem; Eraksoy, Mefkure; Bahar, Sara

2015-01-01

Behçet's disease (BD) is a systemic auto-inflammatory disorder of unknown cause, which may affect the central nervous system in around 5% of the patients [neuro-BD (NBD)], usually causing large lesions encompassing brainstem, diencephalon and basal ganglia regions. Occasionally NBD patients present with white matter lesions necessitating differential diagnosis from multiple sclerosis (MS). In this study, the efficacy of Barkhof criteria was tested in diagnostic differentiation of NBD and MS. Charts and MRIs of 84 NBD patients were retrospectively evaluated. Clinical and radiological features of NBD patients fulfilling (Barkhof+) and not fulfilling Barkhof criteria (Barkhof-) were compared. While the Barkhof- patients (n=73) mostly displayed typical large lesions covering brainstem, diencephalon and basal ganglia regions and neurological findings consistent with brainstem involvement, all Barkhof+ (n=11) patients demonstrated MS-like white matter lesions, fulfilled McDonald's criteria and showed reduced frequency of brainstem symptoms and increased frequency of hemiparesis, hemihypesthesia and spinal cord symptoms. Moreover, the Barkhof+ group had more female patients, increased number of attacks, higher rate of oligoclonal band positivity and less patients with cerebrospinal fluid pleocytosis. A subgroup of BD patients with neurological complaints displays MS-like lesions, fulfills the clinical and radiological criteria of MS and presents with clinical and laboratory features resembling those of MS rather than NBD. These results suggest that Barkhof+ patients are either an overlapping group between NBD and MS, or they represent MS patients with concomitant systemic findings of BD, rather than NBD. Barkhof criteria appear to be effective in discriminating these patients.

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

The comparison of pathology in ferrets infected by H9N2 avian influenza viruses with different genomic features.

PubMed

Gao, Rongbao; Bai, Tian; Li, Xiaodan; Xiong, Ying; Huang, Yiwei; Pan, Ming; Zhang, Ye; Bo, Hong; Zou, Shumei; Shu, Yuelong

2016-01-15

H9N2 avian influenza virus circulates widely in poultry and has been responsible for sporadic human infections in several regions. Few studies have been conducted on the pathogenicity of H9N2 AIV isolates that have different genomic features. We compared the pathology induced by a novel reassortant H9N2 virus and two currently circulating H9N2 viruses that have different genomic features in ferrets. The results showed that the three viruses can induce infections with various amounts of viral shedding in ferrets. The novel H9N2 induced respiratory infection, but no pathological lesions were observed in lung tissues. The other two viruses induced mild to intermediate pathological lesions in lung tissues, although the clinical signs presented mildly in ferrets. The pathological lesions presented a diversity consistent with viral replication in ferrets. Copyright © 2015 Elsevier Inc. All rights reserved.

EEG-based emotion recognition in music listening.

PubMed

Lin, Yuan-Pin; Wang, Chi-Hong; Jung, Tzyy-Ping; Wu, Tien-Lin; Jeng, Shyh-Kang; Duann, Jeng-Ren; Chen, Jyh-Horng

2010-07-01

Ongoing brain activity can be recorded as electroencephalograph (EEG) to discover the links between emotional states and brain activity. This study applied machine-learning algorithms to categorize EEG dynamics according to subject self-reported emotional states during music listening. A framework was proposed to optimize EEG-based emotion recognition by systematically 1) seeking emotion-specific EEG features and 2) exploring the efficacy of the classifiers. Support vector machine was employed to classify four emotional states (joy, anger, sadness, and pleasure) and obtained an averaged classification accuracy of 82.29% +/- 3.06% across 26 subjects. Further, this study identified 30 subject-independent features that were most relevant to emotional processing across subjects and explored the feasibility of using fewer electrodes to characterize the EEG dynamics during music listening. The identified features were primarily derived from electrodes placed near the frontal and the parietal lobes, consistent with many of the findings in the literature. This study might lead to a practical system for noninvasive assessment of the emotional states in practical or clinical applications.

Characterization of punctate inner choroidopathy using enhanced depth imaging optical coherence tomography.

PubMed

Zarranz-Ventura, Javier; Sim, Dawn A; Keane, Pearse A; Patel, Praveen J; Westcott, Mark C; Lee, Richard W; Tufail, Adnan; Pavesio, Carlos E

2014-09-01

To perform qualitative and quantitative analyses of retinal and choroidal morphology in patients with punctate inner choroidopathy (PIC) using enhanced depth imaging optical coherence tomography (EDI-OCT). Cross-sectional, consecutive series. A total of 2242 patients attending 2 tertiary referral uveitis clinics at Moorfields Eye Hospital were screened; 46 patients with PIC diagnosis were identified, and 35 eyes (35 patients) had clinically inactive PIC had EDI-OCT images that met the inclusion criteria. Punctate inner choroidopathy lesions were qualitatively assessed for retinal features, such as (1) focal elevation of the retinal pigment epithelium (RPE), (2) focal atrophy of the outer retina/RPE, and (3) presence of sub-RPE hyperreflective deposits and choroidal features: (a) presence of focal hyperreflective dots in the inner choroid and (b) focal thinning of the choroid adjacent to PIC lesions. Quantitative analyses of the retina, choroid, and choroidal sublayers were performed, and associations with clinical and demographic data were examined. Prevalence of each lesion pattern and thickness of retinal and choroidal layers. A total of 90 discrete PIC lesions were captured; 46.6% of PIC lesions consisted of focal atrophy of the outer retina and RPE; 34.4% consisted of sub-RPE hyperreflective deposits; and 18.8% consisted of localized RPE elevation with underlying hyporeflective space. Focal hyperreflective dots were seen in the inner choroid of 68.5% of patients, with 17.1% of eyes presenting focal choroidal thinning underlying PIC lesions. By excluding high myopes, patients with "atypical" PIC had reduced retinal thickness compared with patients with "typical" PIC (246.65±30.2 vs. 270.05±24.6 μm; P = 0.04), and greater disease duration was associated with decreases in retinal thickness (r = -0.53; P = 0.01). A significant correlation was observed between best-corrected visual acuity and foveal retinal thickness (r = -0.40; P = 0.03). In a large series of patients with clinically inactive PIC, one fifth of the lesions analyzed revealed RPE elevation with underlying hyporeflective space, described before as a sign of activity and suggesting subclinical inflammation. Retinal thickness seems to be associated with disease type and duration of disease in non-highly myopic eyes. Improved visualization of the inner choroid using EDI-OCT may allow noninvasive assessment of inflammatory status. Copyright © 2014 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

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.

ClinicalTrials.gov Turns 10! | NIH MedlinePlus the Magazine

MedlinePlus

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Amyotrophic lateral sclerosis in an adult following acute paralytic poliomyelitis in early childhood.

PubMed

Shimada, A; Lange, D J; Hays, A P

1999-03-01

About 30% of polio survivors develop a post-polio syndrome. Some of these patients develop slowly progressive muscle weakness known as post-poliomyelitis muscular atrophy (PPMA). We describe an unusual form of amyotrophic lateral sclerosis (ALS) in a patient with acute poliomyelitis in childhood. An 80-year-old woman had acute poliomyelitis at 2 years of age and developed weakness limited to the lower extremities. Residual weakness was stable until the age of 75 when she developed rapidly progressive weakness that first affected her left arm and subsequently the right arm. Neurological examination revealed both upper and lower motor neuron signs. These clinical features were more consistent with ALS than PPMA. At autopsy, there was marked atrophy of the precentral gyrus. Microscopic examination revealed a severe loss of all nerve cells and pronounced fibrillary astrocytosis of the lumbar ventral horns in the spinal cord, presumably a result of poliomyelitis. Superimposed on these spinal cord alterations were the pathological features of ALS, consisting of loss of Betz cells, corticospinal tract degeneration and loss of motor neurons of other levels of the spinal cord. The findings included some atypical features for ALS, namely, sparing of the hypoglossal nucleus, absence of Bunina bodies and absence of ubiquitin-immunoreactive inclusions. Although poliomyelitis and ALS may be coincidental, the unusual pathological expression of ALS raise the possibility that it is related to the antecedent poliomyelitis.

[Formula: see text]Official Position of the American Academy of Clinical Neuropsychology (AACN): Guidelines for Practicum Training in Clinical Neuropsychology.

PubMed

Nelson, Aaron P; Roper, Brad L; Slomine, Beth S; Morrison, Chris; Greher, Michael R; Janusz, Jennifer; Larson, Jennifer C; Meadows, Mary-Ellen; Ready, Rebecca E; Rivera Mindt, Monica; Whiteside, Doug M; Willment, Kim; Wodushek, Thomas R

2015-01-01

Practical experience is central to the education and training of neuropsychologists, beginning in graduate school and extending through postdoctoral fellowship. However, historically, little attention has been given to the structure and requirements of practicum training in clinical neuropsychology. A working group of senior-level neuropsychologists, as well as a current postdoctoral fellow, all from a diverse range of settings (The AACN Practicum Guidelines Workgroup), was formed to propose guidelines for practicum training in clinical neuropsychology. The Workgroup reviewed relevant literature and sought input from professional organizations involved in education and training in neuropsychology. The proposed guidelines provide a definition of practicum training in clinical neuropsychology, detail entry and exit criteria across competencies relevant to practicum training in clinical neuropsychology, and discuss the relationship between doctoral training programs and practicum training sites. The proposed guidelines also provide a methodology for competency-based evaluation of clinical neuropsychology practicum trainees and outline characteristics and features that are integral to an effective training environment. Although the guidelines discussed below may not be implemented in their entirety across all clinical neuropsychology practicum training sites, they are consistent with the latest developments in competency-based education.

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

The neuropsychiatric phenotype in Darier disease.

PubMed

Gordon-Smith, K; Jones, L A; Burge, S M; Munro, C S; Tavadia, S; Craddock, N

2010-09-01

Darier disease (DD) is a rare autosomal dominantly inherited skin disorder in which co-occurrence of neuropsychiatric abnormalities has been frequently reported by dermatologists. It is caused by mutations in a single gene, ATP2A2, which is expressed in the skin and brain. To conduct the first systematic investigation of the neuropsychiatric phenotype in DD. One hundred unrelated individuals with DD were assessed using a battery of standardized neuropsychiatric measures. Data were also obtained on a number of clinical features of DD. Individuals with DD were found to have high lifetime rates of mood disorders (50%), specifically major depression (30%) and bipolar disorder (4%), and suicide attempts (13%) and suicidal thoughts (31%). These were more common in DD when compared with general population data. The prevalence of epilepsy (3%) in the sample was also higher than the prevalence in the general population. There was no consistent association of specific dermatological features of DD and presence of psychiatric features. These findings highlight the need for clinicians to assess and recognize neuropsychiatric symptoms in DD. The results do not suggest that neuropsychiatric symptoms are simply a psychological reaction to having a skin disease, but are consistent with the pleiotropy hypothesis that mutations in the ATP2A2 gene, in addition to causing DD, confer susceptibility to neuropsychiatric features. Further research is needed to investigate genotype-phenotype correlations between the types and/or locations of pathogenic mutations within ATP2A2 and the expressed neuropsychiatric phenotypes. © 2010 The Authors. Journal Compilation © 2010 British Association of Dermatologists.

Systemic rhabdomyosarcoma presenting as leukemia: case report with ultrastructural study and reviews.

PubMed

Huntrakoon, M; Callaway, L A; Vergara, G G

1987-08-01

A 20-year-old white male was initially suspected clinically and pathologically of having an acute lymphoblastic leukemic process because of fatigue, severe anemia, thrombocytopenia, a leuko-erythroblastic peripheral blood picture, and a diffusely infiltrated bone marrow. Subsequent review of the bone marrow material indicated cytologic features consistent with either an embryonal, undifferentiated small cell mesenchymal malignancy or reticulo-endothelial malignancy. Ultimately, the electron microscopic (EM) study of the tumor proved to be diagnostic of rhabdomyosarcoma. An extensive search for a primary site of rhabdomyosarcoma did not show any lesion, although the genitourinary region was clinically suspected. The clinical course was a rapidly downhill one with extensive bone and CNS involvement. The patient died 5 months later. An autopsy permit was not obtained. This case emphasizes the occasional tendency of rhabdomyosarcoma to masquerade as a hematopoietic malignancy at the time of presentation and the usefulness of EM study in confirming a diagnosis.

Melorheostosis: segmental osteopoikilosis or a separate entity?

PubMed

Kadhim, Muayad; Deardorff, Matthew A; Dubbs, Holly; Zackai, Elaine H; Dormans, John P

2015-03-01

Melorheostosis is a progressive hyperostotic bone disease that commonly affects the appendicular skeleton. Melorheostosis has a significant degree of overlap with other hyperostosis conditions including osteopoikilosis and likely represent varying degrees of a clinical spectrum. This is a report of 2 patients with melorheostosis who presented with different clinical presentations and involvement of different anatomic locations. One of the patients presented with foot size asymmetry along with intermittent foot pain and limping. This patient also had irregular nonblanching yellow plaque-like lesion on the forehead. The second patient presented with abnormal gait but no pain. Radiographs demonstrated endosteal hyperostosis, which were consistent with a mixed picture of melorheostosis and osteopoikilois. Genetic testing of the LEMD3 gene from a blood sample was negative in both cases. The diagnosis of melorheostosis can be made based on the clinical and radiographic features and can be challenging to differentiate from other hyperostosis conditions. Level V.

Clinical Practice Guidelines for the Management of Atopic Dermatitis 2016.

PubMed

Saeki, Hidehisa; Nakahara, Takeshi; Tanaka, Akio; Kabashima, Kenji; Sugaya, Makoto; Murota, Hiroyuki; Ebihara, Tamotsu; Kataoka, Yoko; Aihara, Michiko; Etoh, Takafumi; Katoh, Norito

2016-10-01

Atopic dermatitis (AD) is a disease characterized by relapsing eczema with pruritus as a primary lesion. Most patients have an atopic predisposition. The definitive diagnosis of AD requires the presence of all three features: (i) pruritus; (ii) typical morphology and distribution of the eczema; and (iii) chronic and chronically relapsing course. The current strategies to treat AD in Japan from the perspective of evidence-based medicine consist of three primary measures: (i) the use of topical corticosteroids and tacrolimus ointment as the main treatment for the inflammation; (ii) topical application of emollients to treat the cutaneous barrier dysfunction; and (iii) avoidance of apparent exacerbating factors, psychological counseling and advice about daily life. The guidelines present recommendations to review clinical research articles, evaluate the balance between the advantages and disadvantages of medical activities, and optimize medical activity-related patient outcomes with respect to several important points requiring decision-making in clinical practice. © 2016 Japanese Dermatological Association.

[Clinical laboratory tests supporting respiratory disease treatment--chairman's introductory remarks].

PubMed

Takai, Daiya

2014-12-01

The symposium consisted of four parts: history of lung function tests, nitric oxide for diagnosis and monitoring of bronchial asthma, radiological and functional changes of the lung in COPD, and combined pulmonary fibrosis and emphysema (CPFE) occasionally showing almost normal results in lung function tests. The history of lung function tests was presented by Dr. Naoko Tojo of the Tokyo Medical and Dental University. Nitric oxide tests in clinical use for diagnosis and monitoring of bronchial asthma were presented by Dr. Hiroyuki Nagase of Teikyo University. Radiological and functional changes of the lung in COPD were presented by Dr. Shigeo Muro of Kyoto University. Clinical features of combined pulmonary fibrosis and emphysema and their associated lung function were presented by Dr. Daiya Takai of the University of Tokyo. I hope that discussing the history of lung function tests until the present was useful for many medical technologists. (Review).

[Basic symptoms in schizophrenia, their clinical study and relevance in research].

PubMed

Miret, Salvador; Fatjó-Vilas, Mar; Peralta, Víctor; Fañanás, Lourdes

2016-01-01

Basic symptoms consist of subtle sub-clinical disturbances subjectively experienced by schizophrenia patients. These are mainly related to drive, affect, thinking and language, perception, memory, motor action, central vegetative functions, control of cognitive processes, and stress tolerance. Initially described by Huber, from a phenomenological approach, basic symptoms are part of the earliest features of schizophrenia, and they can evolve along the course of the disorder. Their assessment during the prodromal phase of the disease (together with ultra-high risk criteria) is one of the 2 main approaches that allow the definition of states of clinical risk for the development of psychosis. The present review provides an updated view of the concept of basic symptoms, highlighting its potential value in establishing neurobiological correlates of interest in aetiopathogenic research. Copyright © 2015 SEP y SEPB. Published by Elsevier España. All rights reserved.

Teaching and assessing professionalism in medicine.

PubMed

Duff, Patrick

2004-12-01

Professionalism is the single most important of the clinical competencies. Lack of professional behavior, in turn, is the single most common cause for disciplinary action against third and fourth-year medical students, residents, fellows, and clinical practitioners. Desirable professional attributes include humility, honesty, responsibility, reliability, and accountability. The ability to preserve an appropriate balance between patient care responsibilities and personal commitments also is an important feature of professional behavior. Altruism, respectfulness, loyalty, compassion, sensitivity, and tactfulness are other desirable professional attributes. In addition, professionalism requires a heightened sense of intellectual curiosity, insight into personal strengths and weaknesses, maturity, and commitment to clinical excellence and self-directed learning. Professionalism can be taught and assessed through lectures, small-group seminars, role-playing exercises, directed reading, and one-on-one observation and counseling. However, the most effective way of teaching professionalism is for instructors to model appropriate behavior and to impose a consistent policy of zero tolerance for unprofessional behavior.

It's a trap! Clinical similarities and subtle ECG differences between takotsubo cardiomyopathy and myocardial infarction.

PubMed

Vivo, Rey P; Krim, Selim R; Hodgson, John

2008-11-01

We describe a 65-year-old woman with a history of hypertension and smoking who presented with an acute episode of chest pain precipitated by severe emotional stress. Her initial electrocardiogram done in the emergency room showed non-specific T wave changes in the lateral leads and her cardiac troponin levels were mildly elevated. Because of her clinical presentation, she was admitted with a presumptive diagnosis of acute myocardial infarction and managed with antiplatelet and anticoagulant therapy. Coronary angiogram did not reveal coronary artery disease and left ventriculography showed findings consistent with apical ballooning syndrome or takotsubo cardiomyopathy. Subsequent electrocardiograms displayed dramatic changes including T wave inversions, QT interval prolongation and U waves. The patient remained asymptomatic and recovered uneventfully. Three weeks post-discharge, an echocardiogram documented resolved left ventricular dysfunction. We describe the clinical features and highlight the electrocardiographic findings that may help differentiate takotsubo cardiomyopathy from myocardial infarction.

Proposed morphologic classification of prostate cancer with neuroendocrine differentiation.

PubMed

Epstein, Jonathan I; Amin, Mahul B; Beltran, Himisha; Lotan, Tamara L; Mosquera, Juan-Miguel; Reuter, Victor E; Robinson, Brian D; Troncoso, Patricia; Rubin, Mark A

2014-06-01

On July 31, 2013, the Prostate Cancer Foundation assembled a working committee on the molecular biology and pathologic classification of neuroendocrine (NE) differentiation in prostate cancer. New clinical and molecular data emerging from prostate cancers treated by contemporary androgen deprivation therapies, as well as primary lesions, have highlighted the need for refinement of diagnostic terminology to encompass the full spectrum of NE differentiation. The classification system consists of: Usual prostate adenocarcinoma with NE differentiation; 2) Adenocarcinoma with Paneth cell NE differentiation; 3) Carcinoid tumor; 4) Small cell carcinoma; 5) Large cell NE carcinoma; and 5) Mixed NE carcinoma - acinar adenocarcinoma. The article also highlights "prostate carcinoma with overlapping features of small cell carcinoma and acinar adenocarcinoma" and "castrate-resistant prostate cancer with small cell cancer-like clinical presentation". It is envisioned that specific criteria associated with the refined diagnostic terminology will lead to clinically relevant pathologic diagnoses that will stimulate further clinical and molecular investigation and identification of appropriate targeted therapies.

Non-HIV-related Kaposi sarcoma in 2 Hispanic patients arising in the setting of chronic venous insufficiency.

PubMed

Que, Syril Kt; DeFelice, Taylor; Abdulla, Farah R; Cassarino, David; Patel, Rishi R

2015-06-01

Kaposi sarcoma (KS) is a vascular neoplasm associated with human herpesvirus 8 (HHV-8) infection that can be confused with the clinical and histological findings of chronic venous insufficiency. Definitive diagnosis of KS can only be achieved by performing a polymerase chain reaction for HHV-8 or by immunostaining for the HHV-8 antigen. We describe 2 unusual clinical presentations of KS in the setting of chronic venous insufficiency with clinical and histologic features consistent with stasis dermatitis but positive HHV-8 immunostaining. Both patients had no known risk factors for KS. We propose the possibility that these cases may represent a new clinical variant of KS that may become more prevalent over time. Further studies are needed to identify the risk factors involved. Meanwhile, skin biopsy with HHV-8 testing may be warranted for violaceous patches and plaques arising on the legs in the setting of chronic venous insufficiency, especially in patients who are unresponsive to treatment.

Management of refractory pityriasis rubra pilaris: challenges and solutions

PubMed Central

Moretta, Gaia; De Luca, Erika V; Di Stefani, Alessandro

2017-01-01

Pityriasis rubra pilaris (PRP) is a rare chronic inflammatory papulosquamous skin disease. Its clinical presentation and evolution is very variable. The most frequent clinical features are follicular papules, progressing to yellow-orange erythroderma with round small areas of normal skin and the well-demarcated palmoplantar keratoderma. Actually, six different types of PRP have been described based on clinical characteristics, age of onset, and prognosis. The pathogenesis is still unknown, and treatment can be challenging. Available treatments are mainly based on case reports or case series of clinical experience because no controlled randomized trials have never been performed because of the rarity of the condition. Traditional systemic treatment consists in retinoids, which are actually considered as first-line therapy, but refractory cases that do not respond or relapse after drug interruption do exist. In recent years, numerous reports have demonstrated the efficacy of new agents such as biological drugs. This article is an overview on available therapeutic options, in particular for refractory forms of PRP. PMID:29184428

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.

[Research progress of bonding strength between porcelain veneer and enamel].

PubMed

Cheng, Hong; Zhang, Fu-qiang

2014-02-01

Porcelain veneer had gained more and more attention in dental clinical applications due to its advantages such as good esthetic effects and minor invasiveness. The reliable and consistent adhesive bonding were the key to success. The enamel which featured high mineralization and low moisture would be the ideal bonding part for porcelain veneer. This article was aimed to summarize the research progress regarding to those factors that might had effect on the bonding strength between the porcelain veneer and the enamel including the restoration types of resin adhesives and bonding surface preparations.

Adult respiratory distress syndrome in Leptospira canicola infection.

PubMed Central

Zaltzman, M; Kallenbach, J M; Goss, G D; Lewis, M; Zwi, S; Gear, J H

1981-01-01

A man was admitted to the Johannesburg Hospital with a history of fever, diarrhoea, and dry cough for four days. He began to produce bloodstained sputum and was found to have severe arterial hypoxaemia. Radiography showed widespread opacification over both lung fields, and the clinical and haemodynamic features were consistent with the adult respiratory distress syndrome. Serology for Leptospira canicola was positive. Despite antibiotics, supportive therapy, and ventilation the patient died. Necropsy excluded cardiac disease. This case shows that leptospirosis may cause the adult respiratory distress syndrome. Images p520-a PMID:6790049

MRI textures as outcome predictor for Gamma Knife radiosurgery on vestibular schwannoma

NASA Astrophysics Data System (ADS)

Langenhuizen, P. P. J. H.; Legters, M. J. W.; Zinger, S.; Verheul, H. B.; Leenstra, S.; de With, P. H. N.

2018-02-01

Vestibular schwannomas (VS) are benign brain tumors that can be treated with high-precision focused radiation with the Gamma Knife in order to stop tumor growth. Outcome prediction of Gamma Knife radiosurgery (GKRS) treatment can help in determining whether GKRS will be effective on an individual patient basis. However, at present, prognostic factors of tumor control after GKRS for VS are largely unknown, and only clinical factors, such as size of the tumor at treatment and pre-treatment growth rate of the tumor, have been considered thus far. This research aims at outcome prediction of GKRS by means of quantitative texture feature analysis on conventional MRI scans. We compute first-order statistics and features based on gray-level co- occurrence (GLCM) and run-length matrices (RLM), and employ support vector machines and decision trees for classification. In a clinical dataset, consisting of 20 tumors showing treatment failure and 20 tumors exhibiting treatment success, we have discovered that the second-order statistical metrics distilled from GLCM and RLM are suitable for describing texture, but are slightly outperformed by simple first-order statistics, like mean, standard deviation and median. The obtained prediction accuracy is about 85%, but a final choice of the best feature can only be made after performing more extensive analyses on larger datasets. In any case, this work provides suitable texture measures for successful prediction of GKRS treatment outcome for VS.

Risk and presenting features of prostate cancer amongst African-Caribbean, South Asian and European men in North-east London.

PubMed

Chinegwundoh, Frank; Enver, Mohamed; Lee, Angela; Nargund, Vinod; Oliver, Tim; Ben-Shlomo, Yoav

2006-12-01

To determine whether there are ethnic differences in the incidence and presenting features of all patients with prostate cancer presenting in North-east London, UK. All newly diagnosed men with prostate cancer between 1999 and 2000 who were resident in the East London and City Health Authority were identified from various sources. Key clinical features were extracted from hospital records. The age-adjusted incidence rates for European, South Asian and African-Caribbean patients were calculated using census denominator data. For men aged >50 years the annual age-adjusted incidence rates (95% confidence interval) were 213 (186-240), 647 (504-789) and 199 (85-310) for the European, African-Caribbean and South Asian patients, respectively. African-Caribbean men had a three times greater risk (risk ratio 3.07, 2.40-3.93, P < 0.001) than European men. South Asian men had a lower risk of prostate cancer but this could have been compatible with chance. There was no evidence of marked ethnic differences for prostate-specific antigen levels, clinical staging and Gleason scores. The greater risk of prostate cancer for African-Caribbean men in South-east England is consistent with data from the USA and the Caribbean. Future work needs to determine whether this risk differs according to country of origin, and which genetic and/or environmental risk factors might be important in explaining these observations.

Internal Medicine residents use heuristics to estimate disease probability

PubMed Central

Phang, Sen Han; Ravani, Pietro; Schaefer, Jeffrey; Wright, Bruce; McLaughlin, Kevin

2015-01-01

Background Training in Bayesian reasoning may have limited impact on accuracy of probability estimates. In this study, our goal was to explore whether residents previously exposed to Bayesian reasoning use heuristics rather than Bayesian reasoning to estimate disease probabilities. We predicted that if residents use heuristics then post-test probability estimates would be increased by non-discriminating clinical features or a high anchor for a target condition. Method We randomized 55 Internal Medicine residents to different versions of four clinical vignettes and asked them to estimate probabilities of target conditions. We manipulated the clinical data for each vignette to be consistent with either 1) using a representative heuristic, by adding non-discriminating prototypical clinical features of the target condition, or 2) using anchoring with adjustment heuristic, by providing a high or low anchor for the target condition. Results When presented with additional non-discriminating data the odds of diagnosing the target condition were increased (odds ratio (OR) 2.83, 95% confidence interval [1.30, 6.15], p = 0.009). Similarly, the odds of diagnosing the target condition were increased when a high anchor preceded the vignette (OR 2.04, [1.09, 3.81], p = 0.025). Conclusions Our findings suggest that despite previous exposure to the use of Bayesian reasoning, residents use heuristics, such as the representative heuristic and anchoring with adjustment, to estimate probabilities. Potential reasons for attribute substitution include the relative cognitive ease of heuristics vs. Bayesian reasoning or perhaps residents in their clinical practice use gist traces rather than precise probability estimates when diagnosing. PMID:27004080

Adult attention-deficit/hyperactivity disorder in major depressed and bipolar subjects: role of personality traits and clinical implications.

PubMed

Di Nicola, Marco; Sala, Loretta; Romo, Lucia; Catalano, Valeria; Even, Christian; Dubertret, Caroline; Martinotti, Giovanni; Camardese, Giovanni; Mazza, Marianna; Tedeschi, Daniela; Callea, Antonino; De Risio, Luisa; Guelfi, Julien Daniel; Rouillon, Frederic; Janiri, Luigi; Gorwood, Philip

2014-08-01

A significant comorbidity between attention-deficit/hyperactivity disorder (ADHD) and affective disorders has been consistently reported in adults. Less data regarding the role of personality traits and the influence of ADHD co-occurrence on clinical characteristics and outcome of mood disorders are currently available. One hundred and six remitted major depressed, 102 euthymic bipolar subjects, and 120 healthy controls, homogeneous with respect to demographic characteristics, were included in the study. ADHD diagnosis was based on DSM-IV-TR criteria. Childhood and adult ADHD features were measured with the Wender Utah Rating Scale, the Adult ADHD Self-rating Scale, and the Brown Attention-Deficit Disorder Scale. The Revised NEO Personality Inventory was also administered to the clinical groups, in order to investigate personality dimensions. The occurrence of adult ADHD in subjects with bipolar disorders (BD) or major depressive disorder (MDD) was 15.7 and 7.5 %, respectively, compared to 3.3 % in healthy controls (HC). Significant associations (p < .001) between personality traits (neuroticism, conscientiousness, and extraversion) and ADHD features were observed. Logistic regression analysis of all clinical subjects (n = 208) showed that those with lower levels of neuroticism (OR = 1.031; p = .025) had a lower frequency of ADHD comorbidity. The present study emphasizes the close relationship between affective disorders, especially BD, and ADHD in adults. Our findings support the need to assess subjects with mood disorders in the clinical setting for possible coexisting ADHD and to further investigate personality traits to better understand the etiology of affective disorders and ADHD co-occurrence.

Inconsistency as a diagnostic tool in a society of intelligent agents.

PubMed

McShane, Marjorie; Beale, Stephen; Nirenburg, Sergei; Jarrell, Bruce; Fantry, George

2012-07-01

To use the detection of clinically relevant inconsistencies to support the reasoning capabilities of intelligent agents acting as physicians and tutors in the realm of clinical medicine. We are developing a cognitive architecture, OntoAgent, that supports the creation and deployment of intelligent agents capable of simulating human-like abilities. The agents, which have a simulated mind and, if applicable, a simulated body, are intended to operate as members of multi-agent teams featuring both artificial and human agents. The agent architecture and its underlying knowledge resources and processors are being developed in a sufficiently generic way to support a variety of applications. We show how several types of inconsistency can be detected and leveraged by intelligent agents in the setting of clinical medicine. The types of inconsistencies discussed include: test results not supporting the doctor's hypothesis; the results of a treatment trial not supporting a clinical diagnosis; and information reported by the patient not being consistent with observations. We show the opportunities afforded by detecting each inconsistency, such as rethinking a hypothesis, reevaluating evidence, and motivating or teaching a patient. Inconsistency is not always the absence of the goal of consistency; rather, it can be a valuable trigger for further exploration in the realm of clinical medicine. The OntoAgent cognitive architecture, along with its extensive suite of knowledge resources an processors, is sufficient to support sophisticated agent functioning such as detecting clinically relevant inconsistencies and using them to benefit patient-centered medical training and practice. Copyright © 2012 Elsevier B.V. All rights reserved.

A Regularized Deep Learning Approach for Clinical Risk Prediction of Acute Coronary Syndrome Using Electronic Health Records.

PubMed

Huang, Zhengxing; Dong, Wei; Duan, Huilong; Liu, Jiquan

2018-05-01

Acute coronary syndrome (ACS), as a common and severe cardiovascular disease, is a leading cause of death and the principal cause of serious long-term disability globally. Clinical risk prediction of ACS is important for early intervention and treatment. Existing ACS risk scoring models are based mainly on a small set of hand-picked risk factors and often dichotomize predictive variables to simplify the score calculation. This study develops a regularized stacked denoising autoencoder (SDAE) model to stratify clinical risks of ACS patients from a large volume of electronic health records (EHR). To capture characteristics of patients at similar risk levels, and preserve the discriminating information across different risk levels, two constraints are added on SDAE to make the reconstructed feature representations contain more risk information of patients, which contribute to a better clinical risk prediction result. We validate our approach on a real clinical dataset consisting of 3464 ACS patient samples. The performance of our approach for predicting ACS risk remains robust and reaches 0.868 and 0.73 in terms of both AUC and accuracy, respectively. The obtained results show that the proposed approach achieves a competitive performance compared to state-of-the-art models in dealing with the clinical risk prediction problem. In addition, our approach can extract informative risk factors of ACS via a reconstructive learning strategy. Some of these extracted risk factors are not only consistent with existing medical domain knowledge, but also contain suggestive hypotheses that could be validated by further investigations in the medical domain.

Familial Prion Disease with Alzheimer Disease-Like Tau Pathology and Clinical Phenotype

PubMed Central

Jayadev, Suman; Nochlin, David; Poorkaj, Parvoneh; Steinbart, Ellen J.; Mastrianni, James A.; Montine, Thomas J.; Ghetti, Bernardino; Schellenberg, Gerard D.; Bird, Thomas D.; Leverenz, James B.

2011-01-01

Objective To describe the Alzheimer disease (AD)-like clinical and pathological features, including marked neurofibrillary tangle (NFT) pathology, of a familial prion disease due to a rare nonsense mutation of the prion gene (PRNP). Methods Longitudinal clinical assessments were available for the proband and her mother. After death, both underwent neuropathological evaluation. PRNP was sequenced after failure to find immunopositive Aβ deposits in the proband and the documentation of prion protein (PrP) immunopositive pathology. Results The proband presented at age 42 years with a 3-year history of progressive short-term memory impairment and depression. Neuropsychological testing found impaired memory performance, with relatively preserved attention and construction. She was diagnosed with AD and died at age 47 years. Neuropathologic evaluation revealed extensive limbic and neocortical NFT formation and neuritic plaques consistent with a Braak stage of VI. The NFTs were immunopositive, with multiple tau antibodies, and electron microscopy revealed paired helical filaments. However, the neuritic plaques were immunonegative for Aβ, whereas immunostaining for PrP was positive. The mother of the proband had a similar presentation, including depression, and had been diagnosed clinically and pathologically as AD. Reevaluation of her brain tissue confirmed similar tau and PrP immunostaining findings. Genetic analysis revealed that both the proband and her mother had a rare PRNP mutation (Q160X) that resulted in the production of truncated PrP. Interpretation We suggest that PRNP mutations that result in a truncation of PrP lead to a prolonged clinical course consistent with a clinical diagnosis of AD and severe AD-like NFTs. PMID:21416485

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.

Neuroimaging standards for research into small vessel disease and its contribution to ageing and neurodegeneration

PubMed Central

Wardlaw, Joanna M; Smith, Eric E; Biessels, Geert J; Cordonnier, Charlotte; Fazekas, Franz; Frayne, Richard; Lindley, Richard I; O'Brien, John T; Barkhof, Frederik; Benavente, Oscar R; Black, Sandra E; Brayne, Carol; Breteler, Monique; Chabriat, Hugues; DeCarli, Charles; de Leeuw, Frank-Erik; Doubal, Fergus; Duering, Marco; Fox, Nick C; Greenberg, Steven; Hachinski, Vladimir; Kilimann, Ingo; Mok, Vincent; Oostenbrugge, Robert van; Pantoni, Leonardo; Speck, Oliver; Stephan, Blossom C M; Teipel, Stefan; Viswanathan, Anand; Werring, David; Chen, Christopher; Smith, Colin; van Buchem, Mark; Norrving, Bo; Gorelick, Philip B; Dichgans, Martin

2013-01-01

Summary Cerebral small vessel disease (SVD) is a common accompaniment of ageing. Features seen on neuroimaging include recent small subcortical infarcts, lacunes, white matter hyperintensities, perivascular spaces, microbleeds, and brain atrophy. SVD can present as a stroke or cognitive decline, or can have few or no symptoms. SVD frequently coexists with neurodegenerative disease, and can exacerbate cognitive deficits, physical disabilities, and other symptoms of neurodegeneration. Terminology and definitions for imaging the features of SVD vary widely, which is also true for protocols for image acquisition and image analysis. This lack of consistency hampers progress in identifying the contribution of SVD to the pathophysiology and clinical features of common neurodegenerative diseases. We are an international working group from the Centres of Excellence in Neurodegeneration. We completed a structured process to develop definitions and imaging standards for markers and consequences of SVD. We aimed to achieve the following: first, to provide a common advisory about terms and definitions for features visible on MRI; second, to suggest minimum standards for image acquisition and analysis; third, to agree on standards for scientific reporting of changes related to SVD on neuroimaging; and fourth, to review emerging imaging methods for detection and quantification of preclinical manifestations of SVD. Our findings and recommendations apply to research studies, and can be used in the clinical setting to standardise image interpretation, acquisition, and reporting. This Position Paper summarises the main outcomes of this international effort to provide the STandards for ReportIng Vascular changes on nEuroimaging (STRIVE). PMID:23867200

Pancreatic cysts suspected to be branch duct intraductal papillary mucinous neoplasm without concerning features have low risk for development of pancreatic cancer.

PubMed

Lawson, Robert D; Hunt, Gordon C; Giap, Andrew Q; Krinsky, Mary L; Slezak, Jeff; Tang, Raymond S; Gonzalez, Ingrid; Kwong, Wilson T; Fehmi, Syed A; Savides, Thomas J

2015-01-01

The risk of developing pancreatic cancer is uncertain in patients with clinically suspected branch duct intraductal papillary mucinous neoplasm (BD-IPMN) based on the "high-risk stigmata" or "worrisome features" criteria proposed in the 2012 international consensus guidelines ("Fukuoka criteria"). Retrospective case series involving patients referred for endoscopic ultrasound (EUS) of indeterminate pancreatic cysts with clinical and EUS features consistent with BD-IPMN. Rates of pancreatic cancer occurring at any location in the pancreas were compared between groups of patients with one or more Fukuoka criteria ("Highest-Risk Group", HRG) and those without these criteria ("Lowest-Risk Group", LRG). After exclusions, 661 patients comprised the final cohort (250 HRG and 411 LRG patients), 62% female with an average age of 67 years and 4 years of follow up. Pancreatic cancer, primarily adenocarcinoma, occurred in 60 patients (59 HRG, 1 LRG). Prevalent cancers diagnosed during EUS, immediate surgery, or first year of follow up were found in 48/661 (7.3%) of cohort and exclusively in HRG (33/77, 42.3%). Using Kaplan-Meier method, the cumulative incidence of cancer at 7 years was 28% in HRG and 1.2% in LRG patients (P<0.001). This study supports using Fukuoka criteria to stratify the immediate and long-term risks of pancreatic cancer in presumptive BD-IPMN. The risk of pancreatic cancer was highest during the first year and occurred exclusively in those with "high-risk stigmata" or "worrisome features" criteria. After the first year all BD-IPMN continued to have a low but persistent cancer risk.

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

PubMed Central

Fratter, C.; Gorman, G.S.; Stewart, J.D.; Buddles, M.; Smith, C.; Evans, J.; Seller, A.; Poulton, J.; Roberts, M.; Hanna, M.G.; Rahman, S.; Omer, S.E.; Klopstock, T.; Schoser, B.; Kornblum, C.; Czermin, B.; Lecky, B.; Blakely, E.L.; Craig, K.; Chinnery, P.F.; Turnbull, D.M.; Horvath, R.; Taylor, R.W.

2010-01-01

Background: Mutations in the Twinkle (PEO1) gene are a recognized cause of autosomal dominant progressive external ophthalmoplegia (adPEO), resulting in the accumulation of multiple mitochondrial DNA (mtDNA) deletions and cytochrome c oxidase (COX)-deficient fibers in skeletal muscle secondary to a disorder of mtDNA maintenance. Patients typically present with isolated extraocular muscle involvement, with little apparent evidence of the clinical heterogeneity documented in other mtDNA maintenance disorders, in particular POLG-related disease. Methods: We reviewed the clinical, histochemical, and molecular genetics analysis of 33 unreported patients from 26 families together with all previous cases described in the literature to define the clinical phenotype associated with PEO1 mutations. Results: Ptosis and ophthalmoparesis were almost universal clinical features among this cohort, with 52% (17/33) reporting fatigue and 33% (11/33) having mild proximal myopathy. Features consistent with CNS involvement were rarely described; however, in 24% (8/33) of the patients, cardiac abnormalities were reported. Mitochondrial histochemical changes observed in muscle showed remarkable variability, as did the secondary mtDNA deletions, which in some patients were only detected by PCR-based assays and not Southern blotting. Moreover, we report 7 novel PEO1 variants. Conclusions: Our data suggest a shared clinical phenotype with variable mild multiorgan involvement, and that the contribution of PEO1 mutations as a cause of adPEO may well be underestimated. Direct sequencing of the PEO1 gene should be considered in adPEO patients prior to muscle biopsy. GLOSSARY adPEO = autosomal dominant progressive external ophthalmoplegia; COX = cytochrome c oxidase; IOSCA = infantile-onset spinocerebellar ataxia; mtDNA = mitochondrial DNA; PEO = progressive external ophthalmoplegia; SANDO = sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; SDH = succinate dehydrogenase. PMID:20479361

Comparison of the clinical and cognitive features of genetically positive ALS patients from the largest tertiary center in Serbia.

PubMed

Marjanović, Ivan V; Selak-Djokić, Biljana; Perić, Stojan; Janković, Milena; Arsenijević, Vladimir; Basta, Ivana; Lavrnić, Dragana; Stefanova, Elka; Stević, Zorica

2017-06-01

Discovering novel mutations in C9orf72, FUS, ANG, and TDP-43 genes in ALS patients arises necessities for better clinical characterizations of these subjects. The aim is to determine clinical and cognitive profile of genetically positive Serbian ALS patients. 241 ALS patients were included in the study (17 familiar and 224 apparently sporadic). The following genes were analyzed: SOD1, C9orf72, ANG, FUS, and TDP-43. An extensive battery of classic neuropsychological tests was used in 27 ALS patients (22 SOD1 positive and 5 SOD1 negative) and 82 healthy controls (HCs). Overall 37 (15.4%) of 241 ALS patients carried mutations in tested genes-among 17 familiar ALS patients 16 (94.1%) were positive and among 224 apparently sporadic 21 (9.4%) had causative mutation. Mutations in SOD1 gene were the most common, representing 27 (73.0%) of all genetically positive ALS patients. The main clinical characteristics of SOD1 positive patients were: spinal onset in lower extremities, common sphincter and sensitive disturbances, and dysexecutive syndrome. Within SOD1 positive patients, we noticed somewhat earlier onset in patients with A145G, sensory and sphincter disturbances were dominant in patients with L144F, while D90A patients had significant sensory involvement. SOD1 negative group consisted of ten (27.0%) patients (six C9orf72, two ANG, one TDP-43, and one patient baring triple FUS, C9orf72 expansion, and ANG variants). Bulbar involvement and more extensive neuropsychological impairment (including executive, visuospatial, and memory difficulties) were the main features of SOD1 negative cohort. Our results suggest that meaningful clinical suspicion of certain ALS genotype might be made based on thorough clinical evaluation of patients.

Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1.

PubMed

Hedera, P; Toriello, H V; Petty, E M

2002-07-01

Treacher Collins syndrome (TCS), the most common type of mandibulofacial dysostosis (MFD), is genetically homogeneous. Other types of MFD are less common and, of these, only the Bauru type of MFD has an autosomal dominant (AD) mode of inheritance established. Here we report clinical features of a kindred with a unique AD MFD with the exclusion of linkage to the TCS locus (TCOF1) on chromosome 5q31-q32. Six affected family members underwent a complete medical genetics physical examination and two affected subjects had skeletal survey. All available medical records were reviewed. Linkage analysis using the markers spanning the TCOF1 locus was performed. One typically affected family member had a high resolution karyotype. Affected subjects had significant craniofacial abnormalities without any significant acral changes and thus had a phenotype consistent with a MFD variant. Distinctive features included hypoplasia of the zygomatic complex, micrognathia with malocclusion, auricular abnormalities with conductive hearing loss, and ptosis. Significantly negative two point lod scores were obtained for markers spanning the TCOF1 locus, excluding the possibility that the disease in our kindred is allelic with TCS. High resolution karyotype was normal. We report a kindred with a novel type of MFD that is not linked to the TCOF1 locus and is also clinically distinct from other types of AD MFD. Identification of additional families will facilitate identification of the gene causing this type of AD MFD and further characterisation of the clinical phenotype.

Clinical features and risk factors for post-partum depression in a large cohort of Chinese women with recurrent major depressive disorder

PubMed Central

Tian, Tian; Li, Yihan; Xie, Dong; Shen, Yifeng; Ren, Jianer; Wu, Wenyuan; Guan, Chengbin; Zhang, Zhen; Zhang, Danning; Gao, Chengge; Zhang, Xiaoming; Wu, Jinbo; Deng, Hong; Wang, Gang; Zhang, Yunshu; Shao, Yun; Rong, Han; Gan, Zhaoyu; Sun, Yan; Hu, Bin; Pan, Jiyang; Li, Yi; Sun, Shufan; Song, Libo; Fan, Xuesheng; Li, Yi; Zhao, Xiaochuan; Yang, Bin; Lv, Luxian; Chen, Yunchun; Wang, Xiaoli; Ning, Yuping; Shi, Shenxun; Chen, Yiping; Kendler, Kenneth S.; Flint, Jonathan; Tian, Hongjun

2012-01-01

Background Post partum depression (PPD) is relatively common in China but its clinical characteristics and risk factors have not been studied. We set out to investigate whether known risk factors for PPD could be found in Chinese women. Methods A case control design was used to determine the impact of known risk factors for PPD in a cohort of 1970 Chinese women with recurrent DSM-IV major depressive disorder (MDD). In a within-case design we examined the risk factors for PPD in patients with recurrent MDD. We compared the clinical features of MDD in cases with PPD to those without MDD. Odds ratios were calculated using logistic and ordinal regression. Results Lower occupational and educational statuses increased the risk of PPD, as did a history of pre-menstrual symptoms, stressful life events and elevated levels of the personality trait of neuroticism. Patients with PPD and MDD were more likely to experience a comorbid anxiety disorder, had a younger age of onset of MDD, have higher levels of neuroticism and dysthymia. Limitations Results obtained in this clinical sample may not be applicable to PPD within the community. Data were obtained retrospectively and we do not know whether the correlations we observe have the same causes as those operating in other populations. Conclusions Our results are consistent with the hypothesis that the despite cultural differences between Chinese and Western women, the phenomenology and risk factors for PPD are very similar. PMID:21824665

Bronchopulmonary Actinomycosis Associated With Hiatal Hernia

PubMed Central

Andreani, Alessandro; Cavazza, Alberto; Marchioni, Alessandro; Richeldi, Luca; Paci, Massimiliano; Rossi, Giulio

2009-01-01

OBJECTIVES: To describe clinicoradiologic and histopathologic features of bronchopulmonary actinomycosis and to determine whether hiatal hernia (HH) is a potential predisposing factor for bronchopulmonary actinomycosis. PATIENTS AND METHODS: We reviewed the medical charts of 10 patients who had bronchopulmonary actinomycosis between November 1, 2002, and January 31, 2008. Complete clinical data, radiologic studies (chest radiographs and computed tomographic scans), and histopathologic features were assessed to investigate clinical manifestations and predisposing factors related to bronchopulmonary actinomycosis. RESULTS: The series consisted of 6 men and 4 women, with a mean age of 63.5 years; 8 of the patients were smokers. Cough and fever were the most common symptoms. Chest imaging showed mass-like consolidation in 4 patients, bronchial thickening or lung atelectasis with pleural thickening in 2 patients each, and perihilar irregular mass or multiple bilateral nodules in 1 patient each. Primary or metastatic lung cancer was suspected clinically in 8 of the 10 patients. Foreign body-related endobronchial actinomycosis was diagnosed in 6 patients, 5 of whom had HH; only 1 had gastroesophageal reflux-related symptoms. Because of bronchial obstruction, rigid bronchoscopy was performed in 3 patients, lobectomy in 2, and atypical resection in 1. Antibiotic therapy with amoxicillin was given to all patients, with resolution of actinomycosis. CONCLUSION: Bronchopulmonary actinomycosis is a rare condition that mimics pulmonary malignancy on clinical and radiologic grounds. Diagnosis relies on an accurate patient history and histopathologic examination. Although further confirmation is required, esophageal HH appears to be a potential predisposing factor. PMID:19181645

Paederus dermatitis in Southeastern Anatolia, Turkey: a report of 57 cases.

PubMed

Turan, Enver

2014-09-01

Paederus dermatitis (PD), which is an irritant contact dermatitis, is common throughout the world and caused by rove beetles. To assess the clinical features of PD and the level of knowledge of patients from the city of Batman and surrounding areas who presented with the condition. We describe 57 patients who presented to our dermatology clinic in the city of Batman between May 2011 and October 2011. Sociodemographic data were collected for all the patients, and their level of knowledge about the disease was assessed with a detailed questionnaire. Fifty-seven patients, of whom 36 (63%) were men and 21 (37%) were women, were included in the study. The mean age of the patients was 24.2 years. The peak time of presentation was August. The neck and the chest were the most common sites of involvement. Clinically, the most common presentation consisted of papulo-pustules on an erythematous base. The most frequent complaints were burning and stinging sensations (66.7%). Only three patients (5%) thought that contact with insects could lead to the disease. PD is an important public health problem when it is seen epidemically. The public's awareness about the cause of the disease is very low. Knowledge about the clinical features of PD and the emergence of epidemics will prevent misdiagnosis by physicians. Increasing the level of knowledge of people about the cause of the disease and about the behavioural patterns of the insect are important in terms of disease prevention.

Recommendations for the Design and Analysis of Treatment Trials for Alcohol Use Disorders

PubMed Central

Witkiewitz, Katie; Finney, John W.; Harris, Alex H.S; Kivlahan, Daniel R.; Kranzler, Henry R.

2015-01-01

Background Over the past 60 years the view that “alcoholism” is a disease for which the only acceptable goal of treatment is abstinence has given way to the recognition that alcohol use disorders (AUDs) occur on a continuum of severity, for which a variety of treatment options are appropriate. However, because the available treatments for AUDs are not effective for everyone, more research is needed to develop novel and more efficacious treatments to address the range of AUD severity in diverse populations. Here we offer recommendations for the design and analysis of alcohol treatment trials, with a specific focus on the careful conduct of randomized clinical trials of medications and non-pharmacological interventions for AUDs. Methods Narrative review of the quality of published clinical trials and recommendations for the optimal design and analysis of treatment trials for AUDs. Results Despite considerable improvements in the design of alcohol clinical trials over the past two decades, many studies of AUD treatments have used faulty design features and statistical methods that are known to produce biased estimates of treatment efficacy. Conclusions The published statistical and methodological literatures provide clear guidance on methods to improve clinical trial design and analysis. Consistent use of state-of-the-art design features and analytic approaches will enhance the internal and external validity of treatment trials for AUDs across the spectrum of severity. The ultimate result of this attention to methodological rigor is that better treatment options will be identified for patients with an AUD. PMID:26250333

MorphoCol: An ontology-based knowledgebase for the characterisation of clinically significant bacterial colony morphologies.

PubMed

Sousa, Ana Margarida; Pereira, Maria Olívia; Lourenço, Anália

2015-06-01

One of the major concerns of the biomedical community is the increasing prevalence of antimicrobial resistant microorganisms. Recent findings show that the diversification of colony morphology may be indicative of the expression of virulence factors and increased resistance to antibiotic therapeutics. To transform these findings, and upcoming results, into a valuable clinical decision making tool, colony morphology characterisation should be standardised. Notably, it is important to establish the minimum experimental information necessary to contextualise the environment that originated the colony morphology, and describe the main morphological features associated unambiguously. This paper presents MorphoCol, a new ontology-based tool for the standardised, consistent and machine-interpretable description of the morphology of colonies formed by human pathogenic bacteria. The Colony Morphology Ontology (CMO) is the first controlled vocabulary addressing the specificities of the morphology of clinically significant bacteria, whereas the MorphoCol publicly Web-accessible knowledgebase is an end-user means to search and compare CMO annotated colony morphotypes. Its ultimate aim is to help correlate the morphological alterations manifested by colony-forming bacteria during infection with their response to the antimicrobial treatments administered. MorphoCol is the first tool to address bacterial colony morphotyping systematically and deliver a free of charge resource to the community. Hopefully, it may introduce interesting features of analysis on pathogenic behaviour and play a significant role in clinical decision making. http://morphocol.org. Copyright © 2015 Elsevier Inc. All rights reserved.

Cloudwave: distributed processing of "big data" from electrophysiological recordings for epilepsy clinical research using Hadoop.

PubMed

Jayapandian, Catherine P; Chen, Chien-Hung; Bozorgi, Alireza; Lhatoo, Samden D; Zhang, Guo-Qiang; Sahoo, Satya S

2013-01-01

Epilepsy is the most common serious neurological disorder affecting 50-60 million persons worldwide. Multi-modal electrophysiological data, such as electroencephalography (EEG) and electrocardiography (EKG), are central to effective patient care and clinical research in epilepsy. Electrophysiological data is an example of clinical "big data" consisting of more than 100 multi-channel signals with recordings from each patient generating 5-10GB of data. Current approaches to store and analyze signal data using standalone tools, such as Nihon Kohden neurology software, are inadequate to meet the growing volume of data and the need for supporting multi-center collaborative studies with real time and interactive access. We introduce the Cloudwave platform in this paper that features a Web-based intuitive signal analysis interface integrated with a Hadoop-based data processing module implemented on clinical data stored in a "private cloud". Cloudwave has been developed as part of the National Institute of Neurological Disorders and Strokes (NINDS) funded multi-center Prevention and Risk Identification of SUDEP Mortality (PRISM) project. The Cloudwave visualization interface provides real-time rendering of multi-modal signals with "montages" for EEG feature characterization over 2TB of patient data generated at the Case University Hospital Epilepsy Monitoring Unit. Results from performance evaluation of the Cloudwave Hadoop data processing module demonstrate one order of magnitude improvement in performance over 77GB of patient data. (Cloudwave project: http://prism.case.edu/prism/index.php/Cloudwave).

Cloudwave: Distributed Processing of “Big Data” from Electrophysiological Recordings for Epilepsy Clinical Research Using Hadoop

PubMed Central

Jayapandian, Catherine P.; Chen, Chien-Hung; Bozorgi, Alireza; Lhatoo, Samden D.; Zhang, Guo-Qiang; Sahoo, Satya S.

2013-01-01

Epilepsy is the most common serious neurological disorder affecting 50–60 million persons worldwide. Multi-modal electrophysiological data, such as electroencephalography (EEG) and electrocardiography (EKG), are central to effective patient care and clinical research in epilepsy. Electrophysiological data is an example of clinical “big data” consisting of more than 100 multi-channel signals with recordings from each patient generating 5–10GB of data. Current approaches to store and analyze signal data using standalone tools, such as Nihon Kohden neurology software, are inadequate to meet the growing volume of data and the need for supporting multi-center collaborative studies with real time and interactive access. We introduce the Cloudwave platform in this paper that features a Web-based intuitive signal analysis interface integrated with a Hadoop-based data processing module implemented on clinical data stored in a “private cloud”. Cloudwave has been developed as part of the National Institute of Neurological Disorders and Strokes (NINDS) funded multi-center Prevention and Risk Identification of SUDEP Mortality (PRISM) project. The Cloudwave visualization interface provides real-time rendering of multi-modal signals with “montages” for EEG feature characterization over 2TB of patient data generated at the Case University Hospital Epilepsy Monitoring Unit. Results from performance evaluation of the Cloudwave Hadoop data processing module demonstrate one order of magnitude improvement in performance over 77GB of patient data. (Cloudwave project: http://prism.case.edu/prism/index.php/Cloudwave) PMID:24551370

Vaccine-Preventable Diseases In Pediatric Patients: A Review Of Measles, Mumps, Rubella, And Varicella.

PubMed

Levine, Deborah A

2016-12-01

Vaccine-preventable diseases such as measles, mumps, rubella, and varicella continue to plague children and adults worldwide. Although public health programs have helped decrease the prevalence and sequelae of these diseases, outbreaks still occur. To limit the spread of these diseases, emergency clinicians must be able to readily identify the characteristic presentations of the rashes associated with measles, rubella, and varicella, as well as the common presenting features associated with mumps. Diagnostic laboratory studies are not usually necessary, as a complete history and physical examination usually lead to an accurate diagnosis. Treatment for these vaccine-preventable diseases usually consists of supportive care, but, in some cases, severe complications and death may occur. This issue provides a review of the clinical features, differential diagnoses, potential complications, and treatment options for measles, mumps, rubella, and varicella.

"Occult cutaneous lymphangiectasis": an unusual case of cutaneous lymphangioma.

PubMed

Kakinuma, Hiroshi

2002-01-01

An unusual case of cutaneous lymphatic abnormality is described and named as "occult cutaneous lymphangietasis". A 26-year-old man had noticed pigmented maculae in the left inguinofemoral region and waist, which had gradually increased in number for as long as he could remember. The peculiar distribution of the eruptions and their transient saccular dilatation due to infection suggested that they were of lymphatic origin. Lymphangiography showed the presence of dilated lymphatics in the left inguinofemoral area and correspondence of the distribution of dermal backflow with the locations of the pigmented maculae. The histology is consistent with a diagnosis of lymphangioma. We could find no other reports of cases of cutaneous lymphangioma featuring pigmented maculae as the sole manifestation, although whether the pigmentation is an original clinical feature of this type of lymphatic abnormality is still an open question.

Perivascular epithelioid cell tumor (PEComa) of the urinary bladder associated with Xp11 translocation.

PubMed

Russell, Christopher M; Buethe, David D; Dickinson, Shohreh; Sexton, Wade J

2014-01-01

Perivascular epithelioid cell-containing tumors (PEComas) represent a rare family of neoplasms. Their dichotomous phenotypic features, including both myogenic and mylanocytic features, can make a definitive diagnosis difficult. Such tumors have been associated with the overexpression of transcription factor E3 (TFE3). An Xp11 translocation could account for the aberrant activity of TFE3 but has never before been described in affiliation with a PEComa of the urinary bladder. While PEComas of the bladder have exhibited benign clinical courses to date, here we present an intravesical PEComa shown to have an Xp11 translocation and resultant overexpression of TFE3, indicating an aggressive, metastatic nature. No consistent tumor characteristics have proven accurate at identifying aggressive tumors. However, mTOR inhibitors offer a mechanistic management strategy when systemic therapy is warranted.

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

PubMed Central

Jonsson, J J; Renieri, A; Gallagher, P G; Kashtan, C E; Cherniske, E M; Bruttini, M; Piccini, M; Vitelli, F; Ballabio, A; Pober, B R

1998-01-01

We describe a family with four members, a mother, two sons, and a daughter, who show clinical features consistent with X linked Alport syndrome. The two males presented with additional features including mental retardation, dysmorphic facies with marked midface hypoplasia, and elliptocytosis. The elliptocytosis was not associated with any detectable abnormalities in red cell membrane proteins; red cell membrane stability and rigidity was normal on ektacytometry. Molecular characterisation suggests a submicroscopic X chromosome deletion encompassing the entire COL4A5 gene. We propose that the additional abnormalities found in the affected males of this family are attributable to deletion or disruption of X linked recessive genes adjacent to the COL4A5 gene and that this constellation of findings may represent a new X linked contiguous gene deletion syndrome. Images PMID:9598718

Implementation of an iPhone as a wireless accelerometer for quantifying gait characteristics.

PubMed

Lemoyne, Robert; Mastroianni, Timothy; Cozza, Michael; Coroian, Cristian; Grundfest, Warren

2010-01-01

The capacity to quantify and evaluate gait beyond the general confines of a clinical environment under effectively autonomous conditions may alleviate rampant strain on limited and highly specialized medical resources. An iPhone consists of a three dimensional accelerometer subsystem with highly robust and scalable software applications. With the synthesis of the integral iPhone features, an iPhone application, which constitutes a wireless accelerometer system for gait quantification and analysis, has been tested and evaluated in an autonomous environment. The acquired gait cycle data was transmitted wireless and through email for subsequent post-processing in a location remote to the location where the experiment was conducted. The iPhone application functioning as a wireless accelerometer for the acquisition of gait characteristics has demonstrated sufficient accuracy and consistency.

Using machine learning to predict radiation pneumonitis in patients with stage I non-small cell lung cancer treated with stereotactic body radiation therapy

NASA Astrophysics Data System (ADS)

Valdes, Gilmer; Solberg, Timothy D.; Heskel, Marina; Ungar, Lyle; Simone, Charles B., II

2016-08-01

To develop a patient-specific ‘big data’ clinical decision tool to predict pneumonitis in stage I non-small cell lung cancer (NSCLC) patients after stereotactic body radiation therapy (SBRT). 61 features were recorded for 201 consecutive patients with stage I NSCLC treated with SBRT, in whom 8 (4.0%) developed radiation pneumonitis. Pneumonitis thresholds were found for each feature individually using decision stumps. The performance of three different algorithms (Decision Trees, Random Forests, RUSBoost) was evaluated. Learning curves were developed and the training error analyzed and compared to the testing error in order to evaluate the factors needed to obtain a cross-validated error smaller than 0.1. These included the addition of new features, increasing the complexity of the algorithm and enlarging the sample size and number of events. In the univariate analysis, the most important feature selected was the diffusion capacity of the lung for carbon monoxide (DLCO adj%). On multivariate analysis, the three most important features selected were the dose to 15 cc of the heart, dose to 4 cc of the trachea or bronchus, and race. Higher accuracy could be achieved if the RUSBoost algorithm was used with regularization. To predict radiation pneumonitis within an error smaller than 10%, we estimate that a sample size of 800 patients is required. Clinically relevant thresholds that put patients at risk of developing radiation pneumonitis were determined in a cohort of 201 stage I NSCLC patients treated with SBRT. The consistency of these thresholds can provide radiation oncologists with an estimate of their reliability and may inform treatment planning and patient counseling. The accuracy of the classification is limited by the number of patients in the study and not by the features gathered or the complexity of the algorithm.

Multiclass Classification for the Differential Diagnosis on the ADHD Subtypes Using Recursive Feature Elimination and Hierarchical Extreme Learning Machine: Structural MRI Study

PubMed Central

Qureshi, Muhammad Naveed Iqbal; Min, Beomjun; Jo, Hang Joon; Lee, Boreom

2016-01-01

The classification of neuroimaging data for the diagnosis of certain brain diseases is one of the main research goals of the neuroscience and clinical communities. In this study, we performed multiclass classification using a hierarchical extreme learning machine (H-ELM) classifier. We compared the performance of this classifier with that of a support vector machine (SVM) and basic extreme learning machine (ELM) for cortical MRI data from attention deficit/hyperactivity disorder (ADHD) patients. We used 159 structural MRI images of children from the publicly available ADHD-200 MRI dataset. The data consisted of three types, namely, typically developing (TDC), ADHD-inattentive (ADHD-I), and ADHD-combined (ADHD-C). We carried out feature selection by using standard SVM-based recursive feature elimination (RFE-SVM) that enabled us to achieve good classification accuracy (60.78%). In this study, we found the RFE-SVM feature selection approach in combination with H-ELM to effectively enable the acquisition of high multiclass classification accuracy rates for structural neuroimaging data. In addition, we found that the most important features for classification were the surface area of the superior frontal lobe, and the cortical thickness, volume, and mean surface area of the whole cortex. PMID:27500640

Multiclass Classification for the Differential Diagnosis on the ADHD Subtypes Using Recursive Feature Elimination and Hierarchical Extreme Learning Machine: Structural MRI Study.

PubMed

Qureshi, Muhammad Naveed Iqbal; Min, Beomjun; Jo, Hang Joon; Lee, Boreom

2016-01-01

The classification of neuroimaging data for the diagnosis of certain brain diseases is one of the main research goals of the neuroscience and clinical communities. In this study, we performed multiclass classification using a hierarchical extreme learning machine (H-ELM) classifier. We compared the performance of this classifier with that of a support vector machine (SVM) and basic extreme learning machine (ELM) for cortical MRI data from attention deficit/hyperactivity disorder (ADHD) patients. We used 159 structural MRI images of children from the publicly available ADHD-200 MRI dataset. The data consisted of three types, namely, typically developing (TDC), ADHD-inattentive (ADHD-I), and ADHD-combined (ADHD-C). We carried out feature selection by using standard SVM-based recursive feature elimination (RFE-SVM) that enabled us to achieve good classification accuracy (60.78%). In this study, we found the RFE-SVM feature selection approach in combination with H-ELM to effectively enable the acquisition of high multiclass classification accuracy rates for structural neuroimaging data. In addition, we found that the most important features for classification were the surface area of the superior frontal lobe, and the cortical thickness, volume, and mean surface area of the whole cortex.

Medical Device Guidebook: A browser information resource for medical device users.

PubMed

Clarkson, Douglas M

2017-03-01

A web based information resource - the 'Medical Device Guidebook' - for the enabling of safe use of medical devices is described. Medical devices are described within a 'catalogue' of specific models and information on a specific model is provided within a consistent set of information 'keys'. These include 'user manuals', 'points of caution', 'clinical use framework', 'training/assessment material', 'frequently asked questions', 'authorised user comments' and 'consumables'. The system allows identification of known risk/hazards associated with specific devices, triggered, for example, by national alerts or locally raised safety observations. This provides a mechanism for more effective briefing of equipment users on the associated hazards of equipment. A feature of the system is the inclusion of a specific 'Operational Procedure' for each device, where the lack of this focus is shown in the literature to often be a key factor in equipment misuse and associated patient injury. The 'Guidebook' provides a mechanism for the development of an information resource developed within local clinical networks and encourages a consistent approach to medical device use. Copyright © 2017 IPEM. Published by Elsevier Ltd. All rights reserved.

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.

A computer vision framework for finger-tapping evaluation in Parkinson's disease.

PubMed

Khan, Taha; Nyholm, Dag; Westin, Jerker; Dougherty, Mark

2014-01-01

The rapid finger-tapping test (RFT) is an important method for clinical evaluation of movement disorders, including Parkinson's disease (PD). In clinical practice, the naked-eye evaluation of RFT results in a coarse judgment of symptom scores. We introduce a novel computer-vision (CV) method for quantification of tapping symptoms through motion analysis of index-fingers. The method is unique as it utilizes facial features to calibrate tapping amplitude for normalization of distance variation between the camera and subject. The study involved 387 video footages of RFT recorded from 13 patients diagnosed with advanced PD. Tapping performance in these videos was rated by two clinicians between the symptom severity levels ('0: normal' to '3: severe') using the unified Parkinson's disease rating scale motor examination of finger-tapping (UPDRS-FT). Another set of recordings in this study consisted of 84 videos of RFT recorded from 6 healthy controls. These videos were processed by a CV algorithm that tracks the index-finger motion between the video-frames to produce a tapping time-series. Different features were computed from this time series to estimate speed, amplitude, rhythm and fatigue in tapping. The features were trained in a support vector machine (1) to categorize the patient group between UPDRS-FT symptom severity levels, and (2) to discriminate between PD patients and healthy controls. A new representative feature of tapping rhythm, 'cross-correlation between the normalized peaks' showed strong Guttman correlation (μ2=-0.80) with the clinical ratings. The classification of tapping features using the support vector machine classifier and 10-fold cross validation categorized the patient samples between UPDRS-FT levels with an accuracy of 88%. The same classification scheme discriminated between RFT samples of healthy controls and PD patients with an accuracy of 95%. The work supports the feasibility of the approach, which is presumed suitable for PD monitoring in the home environment. The system offers advantages over other technologies (e.g. magnetic sensors, accelerometers, etc.) previously developed for objective assessment of tapping symptoms. Copyright © 2013 Elsevier B.V. All rights reserved.

Congruence between patient characteristics and interventions may partly explain medication adherence intervention effectiveness: an analysis of 190 randomized controlled trials from a Cochrane systematic review.

PubMed

Allemann, Samuel S; Nieuwlaat, Robby; Navarro, Tamara; Haynes, Brian; Hersberger, Kurt E; Arnet, Isabelle

2017-11-01

Due to the negative outcomes of medication nonadherence, interventions to improve adherence have been the focus of countless studies. The congruence between adherence-related patient characteristics and interventions may partly explain the variability of effectiveness in medication adherence studies. In their latest update of a Cochrane review reporting inconsistent effects of adherence interventions, the authors offered access to their database for subanalysis. We aimed to use this database to assess congruence between adherence-related patient characteristics and interventions and its association with intervention effects. We developed a congruence score consisting of six features related to inclusion criteria, patient characteristics at baseline, and intervention design. Two independent raters extracted and scored items from the 190 studies available in the Cochrane database. We correlated overall congruence score and individual features with intervention effects regarding adherence and clinical outcomes using Kruskal-Wallis rank sum test and Fisher's exact test. Interrater reliability for newly extracted data was almost perfect with a Cohen's Kappa of 0.92 [95% confidence interval (CI) = 0.89-0.94; P < 0.001]. Although present in only six studies, the inclusion of nonadherent patients was the single feature significantly associated with effective adherence interventions (P = 0.003). Moreover, effective adherence interventions were significantly associated with improved clinical outcomes (odds ratio = 6.0; 95% CI = 3.1-12.0; P < 0.0001). However, neither the overall congruence score nor any other individual feature (i.e., "determinants of nonadherence as inclusion criteria," "tailoring of interventions to the inclusion criteria," "reasons for nonadherence assessed at baseline," "adjustment of intervention to individual patient needs," and "theory-based interventions") was significantly associated with intervention effects. The presence of only six studies that included nonadherent patients and the interdependency of this feature with the remaining five might preclude a conclusive assessment of congruence between patient characteristics and adherence interventions. In order to obtain clinical benefits from effective adherence interventions, we encourage researchers to focus on the inclusion of nonadherent patients. Copyright © 2017 Elsevier Inc. All rights reserved.

Planning to avoid trouble in the operating room: experts' formulation of the preoperative plan.

PubMed

Zilbert, Nathan R; St-Martin, Laurent; Regehr, Glenn; Gallinger, Steven; Moulton, Carol-Anne

2015-01-01

The purpose of this study was to capture the preoperative plans of expert hepato-pancreato-biliary (HPB) surgeons with the goal of finding consistent aspects of the preoperative planning process. HPB surgeons were asked to think aloud when reviewing 4 preoperative computed tomography scans of patients with distal pancreatic tumors. The imaging features they identified and the planned actions they proposed were tabulated. Surgeons viewed the tabulated list of imaging features for each case and rated the relevance of each feature for their subsequent preoperative plan. Average rater intraclass correlation coefficients were calculated for each type of data collected (imaging features detected, planned actions reported, and relevance of each feature) to establish whether the surgeons were consistent with one another in their responses. Average rater intraclass correlation coefficient values greater than 0.7 were considered indicative of consistency. Division of General Surgery, University of Toronto. HPB surgeons affiliated with the University of Toronto. A total of 11 HPB surgeons thought aloud when reviewing 4 computed tomography scans. Surgeons were consistent in the imaging features they detected but inconsistent in the planned actions they reported. Of the HPB surgeons, 8 completed the assessment of feature relevance. For 3 of the 4 cases, the surgeons were consistent in rating the relevance of specific imaging features on their preoperative plans. These results suggest that HPB surgeons are consistent in some aspects of the preoperative planning process but not others. The findings further our understanding of the preoperative planning process and will guide future research on the best ways to incorporate the teaching and evaluation of preoperative planning into surgical training. Copyright © 2014 Association of Program Directors in Surgery. Published by 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

Advancing The Cancer Genome Atlas glioma MRI collections with expert segmentation labels and radiomic features

PubMed Central

Bakas, Spyridon; Akbari, Hamed; Sotiras, Aristeidis; Bilello, Michel; Rozycki, Martin; Kirby, Justin S.; Freymann, John B.; Farahani, Keyvan; Davatzikos, Christos

2017-01-01

Gliomas belong to a group of central nervous system tumors, and consist of various sub-regions. Gold standard labeling of these sub-regions in radiographic imaging is essential for both clinical and computational studies, including radiomic and radiogenomic analyses. Towards this end, we release segmentation labels and radiomic features for all pre-operative multimodal magnetic resonance imaging (MRI) (n=243) of the multi-institutional glioma collections of The Cancer Genome Atlas (TCGA), publicly available in The Cancer Imaging Archive (TCIA). Pre-operative scans were identified in both glioblastoma (TCGA-GBM, n=135) and low-grade-glioma (TCGA-LGG, n=108) collections via radiological assessment. The glioma sub-region labels were produced by an automated state-of-the-art method and manually revised by an expert board-certified neuroradiologist. An extensive panel of radiomic features was extracted based on the manually-revised labels. This set of labels and features should enable i) direct utilization of the TCGA/TCIA glioma collections towards repeatable, reproducible and comparative quantitative studies leading to new predictive, prognostic, and diagnostic assessments, as well as ii) performance evaluation of computer-aided segmentation methods, and comparison to our state-of-the-art method. PMID:28872634

Three-dimensional Biomimetic Technology: Novel Biorubber Creates Defined Micro- and Macro-scale Architectures in Collagen Hydrogels

PubMed Central

Rodriguez-Rivera, Veronica; Weidner, John W.; Yost, Michael J.

2016-01-01

Tissue scaffolds play a crucial role in the tissue regeneration process. The ideal scaffold must fulfill several requirements such as having proper composition, targeted modulus, and well-defined architectural features. Biomaterials that recapitulate the intrinsic architecture of in vivo tissue are vital for studying diseases as well as to facilitate the regeneration of lost and malformed soft tissue. A novel biofabrication technique was developed which combines state of the art imaging, three-dimensional (3D) printing, and selective enzymatic activity to create a new generation of biomaterials for research and clinical application. The developed material, Bovine Serum Albumin rubber, is reaction injected into a mold that upholds specific geometrical features. This sacrificial material allows the adequate transfer of architectural features to a natural scaffold material. The prototype consists of a 3D collagen scaffold with 4 and 3 mm channels that represent a branched architecture. This paper emphasizes the use of this biofabrication technique for the generation of natural constructs. This protocol utilizes a computer-aided software (CAD) to manufacture a solid mold which will be reaction injected with BSA rubber followed by the enzymatic digestion of the rubber, leaving its architectural features within the scaffold material. PMID:26967145

Three-dimensional Biomimetic Technology: Novel Biorubber Creates Defined Micro- and Macro-scale Architectures in Collagen Hydrogels.

PubMed

Rodriguez-Rivera, Veronica; Weidner, John W; Yost, Michael J

2016-02-12

Tissue scaffolds play a crucial role in the tissue regeneration process. The ideal scaffold must fulfill several requirements such as having proper composition, targeted modulus, and well-defined architectural features. Biomaterials that recapitulate the intrinsic architecture of in vivo tissue are vital for studying diseases as well as to facilitate the regeneration of lost and malformed soft tissue. A novel biofabrication technique was developed which combines state of the art imaging, three-dimensional (3D) printing, and selective enzymatic activity to create a new generation of biomaterials for research and clinical application. The developed material, Bovine Serum Albumin rubber, is reaction injected into a mold that upholds specific geometrical features. This sacrificial material allows the adequate transfer of architectural features to a natural scaffold material. The prototype consists of a 3D collagen scaffold with 4 and 3 mm channels that represent a branched architecture. This paper emphasizes the use of this biofabrication technique for the generation of natural constructs. This protocol utilizes a computer-aided software (CAD) to manufacture a solid mold which will be reaction injected with BSA rubber followed by the enzymatic digestion of the rubber, leaving its architectural features within the scaffold material.

Systems for deep brain stimulation: review of technical features.

PubMed

Amon, A; Alesch, F

2017-09-01

The use of deep brain stimulation (DBS) is an important treatment option for movement disorders and other medical conditions. Today, three major manufacturers provide implantable systems for DBS. Although the underlying principle is basically the same for all available systems, the differences in the technical features vary considerably. This article outlines aspects regarding the technical features of DBS systems. The differences between voltage and current sources are addressed and their effect on stimulation is shown. To maintain clinical benefit and minimize side effects the stimulation field has to be adapted to the requirements of the patient. Shaping of the stimulation field can be achieved by the electrode design and polarity configuration. Furthermore, the electric signal consisting of stimulation rate, stimulation amplitude and pulse width affect the stimulation field. Interleaving stimulation is an additional concept, which permits improved treatment outcomes. Therefore, the electrode design, the polarity, the electric signal, and the concept of interleaving stimulation are presented. The investigated systems can be also categorized as rechargeable and non-rechargeable, which is briefly discussed. Options for interconnecting different system components from various manufacturers are presented. The present paper summarizes the technical features and their combination possibilities, which can have a major impact on the therapeutic effect.

Survey of Current Practice in the Fitting and Fine-Tuning of Common Signal-Processing Features in Hearing Aids for Adults.

PubMed

Anderson, Melinda C; Arehart, Kathryn H; Souza, Pamela E

2018-02-01

Current guidelines for adult hearing aid fittings recommend the use of a prescriptive fitting rationale with real-ear verification that considers the audiogram for the determination of frequency-specific gain and ratios for wide dynamic range compression. However, the guidelines lack recommendations for how other common signal-processing features (e.g., noise reduction, frequency lowering, directional microphones) should be considered during the provision of hearing aid fittings and fine-tunings for adult patients. The purpose of this survey was to identify how audiologists make clinical decisions regarding common signal-processing features for hearing aid provision in adults. An online survey was sent to audiologists across the United States. The 22 survey questions addressed four primary topics including demographics of the responding audiologists, factors affecting selection of hearing aid devices, the approaches used in the fitting of signal-processing features, and the strategies used in the fine-tuning of these features. A total of 251 audiologists who provide hearing aid fittings to adults completed the electronically distributed survey. The respondents worked in a variety of settings including private practice, physician offices, university clinics, and hospitals/medical centers. Data analysis was based on a qualitative analysis of the question responses. The survey results for each of the four topic areas (demographics, device selection, hearing aid fitting, and hearing aid fine-tuning) are summarized descriptively. Survey responses indicate that audiologists vary in the procedures they use in fitting and fine-tuning based on the specific feature, such that the approaches used for the fitting of frequency-specific gain differ from other types of features (i.e., compression time constants, frequency lowering parameters, noise reduction strength, directional microphones, feedback management). Audiologists commonly rely on prescriptive fitting formulas and probe microphone measures for the fitting of frequency-specific gain and rely on manufacturers' default settings and recommendations for both the initial fitting and the fine-tuning of signal-processing features other than frequency-specific gain. The survey results are consistent with a lack of published protocols and guidelines for fitting and adjusting signal-processing features beyond frequency-specific gain. To streamline current practice, a transparent evidence-based tool that enables clinicians to prescribe the setting of other features from individual patient characteristics would be desirable. American Academy of Audiology

Left ventricular inflow tract obstruction secondary to a myxoma in a dog.

PubMed

Fernandez-del Palacio, M Josefa; Sanchez, Joaquin; Talavera, Jesus; Martínez, Carlos

2011-01-01

This is the first description of a left ventricular inflow tract obstruction secondary to a myxoma in a dog. A 4 yr old, male fox terrier presented with a 1 mo history of cough and exercise intolerance. Expiratory dyspnea, pulmonary crackles, irregular cardiac rhythm, and a grade 4/6 pansystolic cardiac murmur over the left cardiac apex were the most important features on physical examination. The electrocardiogram revealed atrial fibrillation. Thoracic radiographs showed left-sided cardiac enlargement and mild pulmonary edema, especially in the hilar area. Two-dimensional transthoracic echocardiography showed severe left atrial dilation and a homogenous, echodense mass involving both leaflets of the mitral valve and the posteromedial papillary muscle, inducing mitral stenosis. Spectral Doppler echocardiography was consistent with severe left ventricular inflow tract obstruction secondary to a mass. Therapy for congestive heart failure was prescribed. Follow-up examinations of the dog 1 mo, 2 mo, and 6 mo after diagnosis showed an improvement in clinical signs, but similar echocardiographic features. Eleven months after diagnosis, the dog was euthanized at the owner's request because of recurrent congestive heart failure. The postmortem examination showed the cardiac tumor was consistent with a myxoma.

Sclerosing lymphangitis of the penis associated with marked penile oedema and skin erosions.

PubMed

Karray, Mehdi; Litaiem, Noureddine; Jones, Mariem; Zeglaoui, Faten

2017-07-27

Sclerosing lymphangitis of the penis is a benign, under-reported condition consisting of a asymptomatic firm cord-like swelling around the coronal sulcus of the penis usually affecting men in the second or third decade of life. Penile oedema and erosions are rarely reported. Clinical signs may be remarkable contrasting with the self-limited character of the disease. We report a new case of sclerosing lymphangitis of the penis occurring in a 59-year-old patient marked by penile swelling and several overlying skin erosions, and discuss the clinical features and the pathogenesis aspects of the disease. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

ibex: An open infrastructure software platform to facilitate collaborative work in radiomics

PubMed Central

Zhang, Lifei; Fried, David V.; Fave, Xenia J.; Hunter, Luke A.; Court, Laurence E.

2015-01-01

Purpose: Radiomics, which is the high-throughput extraction and analysis of quantitative image features, has been shown to have considerable potential to quantify the tumor phenotype. However, at present, a lack of software infrastructure has impeded the development of radiomics and its applications. Therefore, the authors developed the imaging biomarker explorer (ibex), an open infrastructure software platform that flexibly supports common radiomics workflow tasks such as multimodality image data import and review, development of feature extraction algorithms, model validation, and consistent data sharing among multiple institutions. Methods: The ibex software package was developed using the matlab and c/c++ programming languages. The software architecture deploys the modern model-view-controller, unit testing, and function handle programming concepts to isolate each quantitative imaging analysis task, to validate if their relevant data and algorithms are fit for use, and to plug in new modules. On one hand, ibex is self-contained and ready to use: it has implemented common data importers, common image filters, and common feature extraction algorithms. On the other hand, ibex provides an integrated development environment on top of matlab and c/c++, so users are not limited to its built-in functions. In the ibex developer studio, users can plug in, debug, and test new algorithms, extending ibex’s functionality. ibex also supports quality assurance for data and feature algorithms: image data, regions of interest, and feature algorithm-related data can be reviewed, validated, and/or modified. More importantly, two key elements in collaborative workflows, the consistency of data sharing and the reproducibility of calculation result, are embedded in the ibex workflow: image data, feature algorithms, and model validation including newly developed ones from different users can be easily and consistently shared so that results can be more easily reproduced between institutions. Results: Researchers with a variety of technical skill levels, including radiation oncologists, physicists, and computer scientists, have found the ibex software to be intuitive, powerful, and easy to use. ibex can be run at any computer with the windows operating system and 1GB RAM. The authors fully validated the implementation of all importers, preprocessing algorithms, and feature extraction algorithms. Windows version 1.0 beta of stand-alone ibex and ibex’s source code can be downloaded. Conclusions: The authors successfully implemented ibex, an open infrastructure software platform that streamlines common radiomics workflow tasks. Its transparency, flexibility, and portability can greatly accelerate the pace of radiomics research and pave the way toward successful clinical translation. PMID:25735289

IBEX: an open infrastructure software platform to facilitate collaborative work in radiomics.

PubMed

Zhang, Lifei; Fried, David V; Fave, Xenia J; Hunter, Luke A; Yang, Jinzhong; Court, Laurence E

2015-03-01

Radiomics, which is the high-throughput extraction and analysis of quantitative image features, has been shown to have considerable potential to quantify the tumor phenotype. However, at present, a lack of software infrastructure has impeded the development of radiomics and its applications. Therefore, the authors developed the imaging biomarker explorer (IBEX), an open infrastructure software platform that flexibly supports common radiomics workflow tasks such as multimodality image data import and review, development of feature extraction algorithms, model validation, and consistent data sharing among multiple institutions. The IBEX software package was developed using the MATLAB and c/c++ programming languages. The software architecture deploys the modern model-view-controller, unit testing, and function handle programming concepts to isolate each quantitative imaging analysis task, to validate if their relevant data and algorithms are fit for use, and to plug in new modules. On one hand, IBEX is self-contained and ready to use: it has implemented common data importers, common image filters, and common feature extraction algorithms. On the other hand, IBEX provides an integrated development environment on top of MATLAB and c/c++, so users are not limited to its built-in functions. In the IBEX developer studio, users can plug in, debug, and test new algorithms, extending IBEX's functionality. IBEX also supports quality assurance for data and feature algorithms: image data, regions of interest, and feature algorithm-related data can be reviewed, validated, and/or modified. More importantly, two key elements in collaborative workflows, the consistency of data sharing and the reproducibility of calculation result, are embedded in the IBEX workflow: image data, feature algorithms, and model validation including newly developed ones from different users can be easily and consistently shared so that results can be more easily reproduced between institutions. Researchers with a variety of technical skill levels, including radiation oncologists, physicists, and computer scientists, have found the IBEX software to be intuitive, powerful, and easy to use. IBEX can be run at any computer with the windows operating system and 1GB RAM. The authors fully validated the implementation of all importers, preprocessing algorithms, and feature extraction algorithms. Windows version 1.0 beta of stand-alone IBEX and IBEX's source code can be downloaded. The authors successfully implemented IBEX, an open infrastructure software platform that streamlines common radiomics workflow tasks. Its transparency, flexibility, and portability can greatly accelerate the pace of radiomics research and pave the way toward successful clinical translation.

Efficacy and Biological Correlates of Response in a Phase II Study of Venetoclax Monotherapy in Patients with Acute Myelogenous Leukemia.

PubMed

Konopleva, Marina; Pollyea, Daniel A; Potluri, Jalaja; Chyla, Brenda; Hogdal, Leah; Busman, Todd; McKeegan, Evelyn; Salem, Ahmed Hamed; Zhu, Ming; Ricker, Justin L; Blum, William; DiNardo, Courtney D; Kadia, Tapan; Dunbar, Martin; Kirby, Rachel; Falotico, Nancy; Leverson, Joel; Humerickhouse, Rod; Mabry, Mack; Stone, Richard; Kantarjian, Hagop; Letai, Anthony

2016-10-01

We present a phase II, single-arm study evaluating 800 mg daily venetoclax, a highly selective, oral small-molecule B-cell leukemia/lymphoma-2 (BCL2) inhibitor in patients with high-risk relapsed/refractory acute myelogenous leukemia (AML) or unfit for intensive chemotherapy. Responses were evaluated following revised International Working Group (IWG) criteria. The overall response rate was 19%; an additional 19% of patients demonstrated antileukemic activity not meeting IWG criteria (partial bone marrow response and incomplete hematologic recovery). Twelve (38%) patients had isocitrate dehydrogenase 1/2 mutations, of whom 4 (33%) achieved complete response or complete response with incomplete blood count recovery. Six (19%) patients had BCL2-sensitive protein index at screening, which correlated with time on study. BH3 profiling was consistent with on-target BCL2 inhibition and identified potential resistance mechanisms. Common adverse events included nausea, diarrhea and vomiting (all grades), and febrile neutropenia and hypokalemia (grade 3/4). Venetoclax demonstrated activity and acceptable tolerability in patients with AML and adverse features. Venetoclax monotherapy demonstrated clinical activity in patients with AML (relapsed/refractory or unfit for intensive chemotherapy) with a tolerable safety profile in this phase II study. Predictive markers of response consistent with BCL2 dependence were identified. Clinical and preclinical findings provide a compelling rationale to evaluate venetoclax combined with other agents in AML. Cancer Discov; 6(10); 1106-17. ©2016 AACRSee related commentary by Pullarkat and Newman, p. 1082This article is highlighted in the In This Issue feature, p. 1069. ©2016 American Association for Cancer Research.

High-Performance Computational Analysis of Glioblastoma Pathology Images with Database Support Identifies Molecular and Survival Correlates.

PubMed

Kong, Jun; Wang, Fusheng; Teodoro, George; Cooper, Lee; Moreno, Carlos S; Kurc, Tahsin; Pan, Tony; Saltz, Joel; Brat, Daniel

2013-12-01

In this paper, we present a novel framework for microscopic image analysis of nuclei, data management, and high performance computation to support translational research involving nuclear morphometry features, molecular data, and clinical outcomes. Our image analysis pipeline consists of nuclei segmentation and feature computation facilitated by high performance computing with coordinated execution in multi-core CPUs and Graphical Processor Units (GPUs). All data derived from image analysis are managed in a spatial relational database supporting highly efficient scientific queries. We applied our image analysis workflow to 159 glioblastomas (GBM) from The Cancer Genome Atlas dataset. With integrative studies, we found statistics of four specific nuclear features were significantly associated with patient survival. Additionally, we correlated nuclear features with molecular data and found interesting results that support pathologic domain knowledge. We found that Proneural subtype GBMs had the smallest mean of nuclear Eccentricity and the largest mean of nuclear Extent, and MinorAxisLength. We also found gene expressions of stem cell marker MYC and cell proliferation maker MKI67 were correlated with nuclear features. To complement and inform pathologists of relevant diagnostic features, we queried the most representative nuclear instances from each patient population based on genetic and transcriptional classes. Our results demonstrate that specific nuclear features carry prognostic significance and associations with transcriptional and genetic classes, highlighting the potential of high throughput pathology image analysis as a complementary approach to human-based review and translational research.

Aggressive natural killer (NK)-cell leukaemia and extranodal NK/T-cell lymphoma are two distinct diseases that differ in their clinical presentation and cytogenetic findings.

PubMed

Yang, Ching-Fen; Hsu, Chih-Yi; Ho, Donald M-T

2018-05-01

Aggressive natural killer (NK)-cell leukaemia (ANKCL) and extranodal NK/T-cell lymphoma (ENKTCL) with secondary bone marrow involvement are rare bone marrow NK/T-cell neoplasms and share similar features. This study aimed to distinguish these two entities. We studied bone marrow NK/T-cell neoplasms by classifying them into those with no extramedullary mass (group 1, eight cases) and those with extramedullary mass (group 2, 13 cases). The two groups showed similar clinical presentations and pathological features. Fever and cytopenia were the most common clinical presentations in both groups. The neoplastic cells varied from small and relatively monotonous cells to large pleomorphic cells. In six cases (two in group 1, and four in group 2), the neoplastic infiltrate was inconspicuous, consisting of ≤10% of marrow cells in the interstitium, which were hardly identified by haematoxylin and eosin staining alone. Nearly all patients rapidly died, regardless of the neoplastic infiltrate volume. All of the group 1 patients fulfilled the World Health Organisation 2017 diagnostic criteria of ANKCL, and their survival was significantly worse than that of the group 2 patients (P = 0.035). In addition, there was a significant association between being in group 1 and chromosome 7 abnormalities. Chromosome 6q deletion, which is commonly reported in ENKTCL, was seen in two of our group 2 patients, and was not observed in any of our group 1 patients. ANKCL with no extramedullary mass should be distinguished from ENKTCL with bone marrow involvement, as the former shows distinct outcomes and genetic features. © 2018 John Wiley & Sons Ltd.

Clinical features and prognostic factors in patients with bone metastases from hepatocellular carcinoma receiving external beam radiotherapy.

PubMed

He, Jian; Zeng, Zhao-Chong; Tang, Zhao-You; Fan, Jia; Zhou, Jian; Zeng, Meng-Su; Wang, Jian-Hua; Sun, Jing; Chen, Bing; Yang, Ping; Pan, Bai-Sheng

2009-06-15

The current study was performed to identify clinical features and independent predictors of survival in patients with bone metastases from hepatocellular carcinoma (HCC). Patients (n = 205) with bone metastases from HCC received external beam radiotherapy (EBRT) between 1997 and 2007. Demographic variables, laboratory values, tumor characteristics, and treatment modalities were determined before EBRT. The total radiation dose ranged from 32 to 66 grays (Gy) (median, 50 Gy) and was focused on the involved bone. In 80 of 205 (39.0%) patients with bone metastasis from HCC, tumors were characterized by osteolytic, expansile soft-tissue masses. Overall pain relief from EBRT occurred in 204 patients (99.5%). No consistent dose-response relation was found for palliation of bone metastases with doses between 32 and 66 Gy (P = .068), but the retreatment rate was higher in patients with expansile soft tissue. On univariate analysis, shorter survival was associated with poorer Karnofsky performance status (KPS), higher gamma-glutamyltransferase and alpha-fetoprotein levels, tumor size >5 cm, uncontrolled intrahepatic tumors, multifocal bone lesions, involvement of spinal vertebrae, extraosseous metastases, and a shorter disease-free interval after an initial diagnosis of HCC. On multivariate analysis, pretreatment-unfavorable predictors were associated with lower KPS, higher tumor markers, and uncontrolled intrahepatic tumor when KPS was considered. The median survival was 7.4 months. The results of the current study provide detailed information regarding clinical features, survival outcomes, and prognostic factors for HCC with bone metastases in a relatively large cohort of patients treated with EBRT. These prognostic factors will help in determining which dose and fraction are appropriate. (c) 2009 American Cancer Society.

Prevalence of nocturnal frontal lobe epilepsy in the adult population of Bologna and Modena, Emilia-Romagna region, Italy.

PubMed

Vignatelli, Luca; Bisulli, Francesca; Giovannini, Giada; Licchetta, Laura; Naldi, Ilaria; Mostacci, Barbara; Rubboli, Guido; Provini, Federica; Tinuper, Paolo; Meletti, Stefano

2015-03-01

To estimate the prevalence of nocturnal frontal lobe epilepsy (NFLE) in the adults of two areas of the Emilia-Romagna region (northeast Italy) and to describe the clinical features from a population-based perspective. Population-based retrospective cohort study including adults with NFLE. Two areas of the Emilia-Romagna region: the city of Bologna (330,901 adult residents) and five districts of the province of Modena (424,007). Prevalence day: December 31, 2010. Patients with NFLE collected from multiple databases of neurologic hub centers of the districts involved. Diagnostic criteria: clinical history of sleep related bizarre motor attacks and videopolysomnographic recording confirming the typical features of NFLE. Inclusion criteria for prevalence calculation: residence in one of the two geographic areas on the prevalence day and an "active" or "in remission with treatment" form of NFLE. Six subjects from Bologna and eight from Modena were included. Crude prevalence (per 100,000 residents) was 1.8 (95% confidence interval 0.7-4.0) in Bologna and 1.9 (0.8-3.7) in Modena. Similarly, the main clinical features were consistent: onset during adolescence (median age 11-13 y), mainly hyperkinetic seizures, nonlesional form in more than two-thirds of cases, an active form of epilepsy in more than two-thirds of cases. A family history of epilepsy was reported only for two patients. This epidemiologic study establishes that NFLE is a rare epileptic condition, fulfilling the definition for rare disease. Because of methodological limitations of our case ascertainment, the estimates we disclose must be considered the minimum prevalence. © 2015 Associated Professional Sleep Societies, LLC.

Roles of vascular and metabolic components in cognitive dysfunction of Alzheimer disease: short- and long-term modification by non-genetic risk factors.

PubMed

Sato, Naoyuki; Morishita, Ryuichi

2013-11-05

It is well known that a specific set of genetic and non-genetic risk factors contributes to the onset of Alzheimer disease (AD). Non-genetic risk factors include diabetes, hypertension in mid-life, and probably dyslipidemia in mid-life. This review focuses on the vascular and metabolic components of non-genetic risk factors. The mechanisms whereby non-genetic risk factors modify cognitive dysfunction are divided into four components, short- and long-term effects of vascular and metabolic factors. These consist of (1) compromised vascular reactivity, (2) vascular lesions, (3) hypo/hyperglycemia, and (4) exacerbated AD histopathological features, respectively. Vascular factors compromise cerebrovascular reactivity in response to neuronal activity and also cause irreversible vascular lesions. On the other hand, representative short-term effects of metabolic factors on cognitive dysfunction occur due to hypoglycemia or hyperglycemia. Non-genetic risk factors also modify the pathological manifestations of AD in the long-term. Therefore, vascular and metabolic factors contribute to aggravation of cognitive dysfunction in AD through short-term and long-term effects. β-amyloid could be involved in both vascular and metabolic components. It might be beneficial to support treatment in AD patients by appropriate therapeutic management of non-genetic risk factors, considering the contributions of these four elements to the manifestation of cognitive dysfunction in individual patients, though all components are not always present. It should be clarified how these four components interact with each other. To answer this question, a clinical prospective study that follows up clinical features with respect to these four components: (1) functional MRI or SPECT for cerebrovascular reactivity, (2) MRI for ischemic lesions and atrophy, (3) clinical episodes of hypoglycemia and hyperglycemia, (4) amyloid-PET and tau-PET for pathological features of AD, would be required.

Induction of steatohepatitis (NASH) with insulin resistance in wildtype B6 mice by a western-type diet containing soybean oil and cholesterol.

PubMed

Henkel, Janin; Coleman, Charles Dominic; Schraplau, Anne; Jӧhrens, Korinna; Weber, Daniela; Castro, José Pedro; Hugo, Martin; Schulz, Tim Julius; Krämer, Stephanie; Schürmann, Annette; Püschel, Gerhard Paul

2017-03-21

Non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH) are hepatic manifestations of the metabolic syndrome. Many currently used animal models of NAFLD/NASH lack clinical features of either NASH or metabolic syndrome such as hepatic inflammation and fibrosis (e.g. high-fat diets) or overweight and insulin resistance (e.g. methionine-choline-deficient diets) or they are based on monogenetic defects (e.g. ob/ob mice). In the current study, a western-type diet containing soybean oil with high n 6-PUFA and 0.75% cholesterol (SOD+Cho) induced steatosis, inflammation and fibrosis accompanied by hepatic lipid peroxidation and oxidative stress in livers of C57BL/6-mice which in addition showed increased weight gain and insulin resistance, thus displaying a phenotype closely resembling all clinical features of NASH in patients with metabolic syndrome. In striking contrast a soybean oil-containing western-type diet without cholesterol (SOD) induced only mild steatosis but neither hepatic inflammation nor fibrosis, weight gain or insulin resistance. Another high-fat diet mainly consisting of lard and supplemented with fructose in drinking water (LAD+Fru) resulted in more prominent weight gain, insulin resistance and hepatic steatosis than SOD+Cho but livers were devoid of inflammation and fibrosis. Although both LAD+Fru- and SOD+Cho-fed animals had high plasma cholesterol, liver cholesterol was elevated only in SOD+Cho animals. Cholesterol induced expression of chemotactic and inflammatory cytokines in cultured Kupffer cells and rendered hepatocytes more susceptible to apoptosis. Summarizing, dietary cholesterol in SOD+Cho diet may trigger hepatic inflammation and fibrosis. SOD+Cho-fed animals may be a useful disease model displaying many clinical features of patients with the metabolic syndrome and NASH.

A proposal for overcoming problems in teaching interviewing skills to medical students.

PubMed

Benbassat, Jochanan; Baumal, Reuben

2009-08-01

The objective of this paper is to draw attention to four features that distinguish the pedagogy of patient interviewing from the teaching of other clinical skills: (a) students are not naïve to the skill to be learned, (b) they encounter role models with a wide variability in interviewing styles, (c) clinical teachers are not usually specialists in the behavioral sciences, including patient interviewing, and (d) the validity of the methods used for assessment of interviewing skills is uncertain. We propose to adjust the teaching of patient interviewing to these features by (a) gaining an insight into the students' views and using these views as a point of departure for discussions of patient interviewing; (b) helping students to understand why different clinicians use different communication styles; (c) providing the clinical tutors with additional training that will help them function as both specialists who share their expertise with the students and facilitators of small-group learning; and (d) using assessment methods that encourage joint deliberation by the learner and the examiner, rather than a judgmental right-wrong dualism by the examiner alone. The teaching approach that we suggest is consistent with current theories of adult learning, and it occurs in an egalitarian rather than a hierarchical environment. Hopefully, students will also adopt such egalitarian attitudes toward patients, thereby reducing the tendency to a paternalistic communication style.

Influenza-associated Encephalitis/Encephalopathy Identified by the Australian Childhood Encephalitis Study 2013-2015.

PubMed

Britton, Philip N; Dale, Russell C; Blyth, Christopher C; Macartney, Kristine; Crawford, Nigel W; Marshall, Helen; Clark, Julia E; Elliott, Elizabeth J; Webster, Richard I; Cheng, Allen C; Booy, Robert; Jones, Cheryl A

2017-11-01

Influenza-associated encephalitis/encephalopathy (IAE) is an important cause of acute encephalitis syndrome in children. IAE includes a series of clinicoradiologic syndromes or acute encephalopathy syndromes that have been infrequently reported outside East Asia. We aimed to describe cases of IAE identified by the Australian Childhood Encephalitis study. Children ≤ 14 years of age with suspected encephalitis were prospectively identified in 5 hospitals in Australia. Demographic, clinical, laboratory, imaging, and outcome at discharge data were reviewed by an expert panel and cases were categorized by using predetermined case definitions. We extracted cases associated with laboratory identification of influenza virus for this analysis; among these cases, specific IAE syndromes were identified where clinical and radiologic features were consistent with descriptions in the published literature. We identified 13 cases of IAE during 3 southern hemisphere influenza seasons at 5 tertiary children's hospitals in Australia; 8 children with specific acute encephalopathy syndromes including: acute necrotizing encephalopathy, acute encephalopathy with biphasic seizures and late diffusion restriction, mild encephalopathy with reversible splenial lesion, and hemiconvulsion-hemiplegia syndrome. Use of influenza-specific antiviral therapy and prior influenza vaccination were infrequent. In contrast, death or significant neurologic morbidity occurred in 7 of the 13 children (54%). The conditions comprising IAE are heterogeneous with varied clinical features, magnetic resonance imaging changes, and outcomes. Overall, outcome of IAE is poor emphasizing the need for optimized prevention, early recognition, and empiric management.

The development of a core syllabus for the teaching of head and neck anatomy to medical students.

PubMed

Tubbs, R Shane; Sorenson, Edward P; Sharma, Amit; Benninger, Brion; Norton, Neil; Loukas, Marios; Moxham, Bernard J

2014-04-01

The study of human anatomy has traditionally served as a fundamental component in the basic science education of medical students, yet there exists a remarkable lack of firm guidance on essential features that must be included in a gross anatomy course, which would constitute a "Core Syllabus" of absolutely mandatory structures and related clinical pathologies. While universal agreement on the details of a core syllabus is elusive, there is a general consensus that a core syllabus aims to identify the minimum level of knowledge expected of recently qualified medical graduates in order to carry out clinical procedures safely and effectively, while avoiding overloading students with unnecessary facts that have less immediate application to their future careers as clinicians. This paper aims to identify consensus standards of essential features of Head and Neck anatomy via a Delphi Panel consisting of anatomists and clinicians who evaluated syllabus content structures (greater than 1,000) as "essential", "important", "acceptable", or "not required." The goal is to provide guidance for program/course directors who intend to provide the optimal balance between establishing a comprehensive list of clinically relevant essential structures and an overwhelming litany, which would otherwise overburden trainees in their initial years of medical school with superficial rote learning, which potentially dilutes the key and enduring fundamental lessons that prepare students for training in any medical field. Copyright © 2014 Wiley Periodicals, Inc.

PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti's Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family.

PubMed

Meng, Xiaohong; Li, Qiyou; Guo, Hong; Xu, Haiwei; Li, Shiying; Yin, Zhengqin

2017-01-01

To characterize the clinical and molecular genetic characteristics of a large, multigenerational Chinese family showing different phenotypes. A pedigree consisted of 56 individuals in 5 generations was recruited. Comprehensive ophthalmic examinations were performed in 16 family members affected. Mutation screening of CYP4V2 was performed by Sanger sequencing. Next-generation sequencing (NGS) was performed to capture and sequence all exons of 47 known retinal dystrophy-associated genes in two affected family members who had no mutations in CYP4V2 . The detected variants in NGS were validated by Sanger sequencing in the family members. Two compound heterozygous CYP4V2 mutations (c.802-8_810del17insGC and c.992A>C) were detected in the proband who presented typical clinical features of BCD. One missense mutation (c.1482C>T, p.T494M) in the PRPF3 gene was detected in 9 out of 22 affected family members who manifested classical clinical features of RP. Our results showed that two compound heterozygous CYP4V2 mutations caused BCD, and one missense mutation in PRPF3 was responsible for adRP in this large family. This study suggests that accurate phenotypic diagnosis, molecular diagnosis, and genetic counseling are necessary for patients with hereditary retinal degeneration in some large mutigenerational family.

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.

PubMed

Pannone, Luca; Bocchinfuso, Gianfranco; Flex, Elisabetta; Rossi, Cesare; Baldassarre, Giuseppina; Lissewski, Christina; Pantaleoni, Francesca; Consoli, Federica; Lepri, Francesca; Magliozzi, Monia; Anselmi, Massimiliano; Delle Vigne, Silvia; Sorge, Giovanni; Karaer, Kadri; Cuturilo, Goran; Sartorio, Alessandro; Tinschert, Sigrid; Accadia, Maria; Digilio, Maria C; Zampino, Giuseppe; De Luca, Alessandro; Cavé, Hélène; Zenker, Martin; Gelb, Bruce D; Dallapiccola, Bruno; Stella, Lorenzo; Ferrero, Giovanni B; Martinelli, Simone; Tartaglia, Marco

2017-04-01

Germline mutations in PTPN11, the gene encoding the Src-homology 2 (SH2) domain-containing protein tyrosine phosphatase (SHP2), cause Noonan syndrome (NS), a relatively common, clinically variable, multisystem disorder. Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu 261 , Leu 262 , and Arg 265 in 16 unrelated individuals with clinical diagnosis of NS or with features suggestive for this disorder, specifying a novel disease-causing mutation cluster. Expression of the mutant proteins in HEK293T cells documented their activating role on MAPK signaling. Structural data predicted a gain-of-function role of substitutions at residues Leu 262 and Arg 265 exerted by disruption of the N-SH2/PTP autoinhibitory interaction. Molecular dynamics simulations suggested a more complex behavior for changes affecting Leu 261 , with possible impact on SHP2's catalytic activity/selectivity and proper interaction of the PTP domain with the regulatory SH2 domains. Consistent with that, biochemical data indicated that substitutions at codons 262 and 265 increased the catalytic activity of the phosphatase, while those affecting codon 261 were only moderately activating but impacted substrate specificity. Remarkably, these mutations underlie a relatively mild form of NS characterized by low prevalence of cardiac defects, short stature, and cognitive and behavioral issues, as well as less evident typical facial features. © 2017 WILEY PERIODICALS, INC.

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…

Chronic hepatitis B virus infection in Sjögren's syndrome. Prevalence and clinical significance in 603 patients.

PubMed

Marcos, Miguel; Alvarez, Fausto; Brito-Zerón, Pilar; Bove, Albert; Perez-De-Lis, Marta; Diaz-Lagares, Candido; Sanchez-Tapias, Jose-Maria; Ramos-Casals, Manuel

2009-06-01

To analyze the prevalence and clinical characteristics of chronic hepatitis B virus (HBV) infection in a large series of patients with Sjögren syndrome (SS). We investigated the prevalence of chronic HBV infection in 603 consecutive patients with SS diagnosed in our department between 1994 and 2008. There were 517 patients with primary SS (482 women and 35 men, with a mean age at the time of fulfillment of the classification criteria of 57 years) and 86 patients with SS associated with chronic HCV infection (66 women and 20 men, with a mean age at the time of fulfillment of the classification criteria of 65 years). All patients fulfilled 4 or more of the 1993 European Community Study Group criteria for SS. The presence of HBsAg+ was detected in five (0.83%) of the 603 patients with SS. All HBsAg+ patients had primary SS. No patient with HCV-related SS had HBV coinfection. There were 4 women and 1 man, with a mean age at diagnosis of primary SS of 65 years (range 31 to 89 years). All patients showed sicca and systemic involvement. The main extraglandular feature was articular involvement in 5 (100%) patients (including arthritis in two). The main immunologic features were RF in 4 (80%) patients and ANA in 3 (60%). No patient had hypocomplementemia, cryoglobulinemia, antimitochondrial or anti-LKM1 antibodies. Liver involvement was detected in two patients and consisted of slightly raised levels of transaminases. No patient showed clinical manifestations of liver disease such as hepatomegaly, splenomegaly, jaundice or clinical features of hepatic decompensation (ascites, encephalopathy or gastrointestinal bleeding). We found a prevalence of chronic HBV infection of 0.83% in SS, very similar to the prevalence in general population in Spain (0.7%). In contrast to the close association between SS and HCV, chronic HBV infection is not associated with SS in our geographical area, with a ratio SS-HBV/SS-HCV cases of 1:10.

Deaths from exposure to paramethoxymethamphetamine in Alberta and British Columbia, Canada: a case series.

PubMed

Nicol, Jennifer J E; Yarema, Mark C; Jones, Graham R; Martz, Walter; Purssell, Roy A; MacDonald, Judy C; Wishart, Ian; Durigon, Monica; Tzemis, Despina; Buxton, Jane A

2015-01-01

Paramethoxymethamphetamine (PMMA) is a ring-substituted amphetamine similar in structure to 3,4-methylenedioxymethamphetamine (MDMA or "ecstasy"), but substantially more toxic. We describe the clinical features of fatal exposures in the provinces of Alberta and British Columbia, Canada. We conducted a retrospective case series on deaths in Alberta and BC between June 2011 and April 2012 for which forensic toxicologic analysis was positive for PMMA and the drug was implicated as the primary toxic agent. Data collected included patient demographics, exposure history, clinical features, investigations, therapy provided and postmortem toxicologic findings. A total of 27 PMMA-associated deaths (20 in Alberta, 7 in BC) were reported in the 11-month period. The median age was 24 (range 14-52) years, and 22 (81%) were male. Ten patients were pronounced dead at the scene, and 17 died in hospital. The median time from exposure to death was 17 (range 5-264) hours. The median first-recorded vital signs (and ranges) were: heart rate 160 (86-201) beats/min, blood pressure 89/43 (69/30-162/83) mm Hg, respiratory rate 40 (26-48) breaths/min, oxygen saturation 81% (68%-100%) and temperature 39.4°C (34-43.8°C). Sixteen of the 17 people who died in hospital presented with clinical features consistent with serotonin syndrome. End-organ dysfunction included hepatic (30%) and acute kidney injury (85%), rhabdomyolysis (54%), coagulopathy (61%) and cardiac ischemia (15%). Other drugs identified on toxicologic analysis were MDMA (n = 27), cocaine or its metabolite benzoylecgonine (n = 14) and methamphetamine (n = 12). Exposure to PMMA was characterized by multiorgan dysfunction and serotonin syndrome, followed by cardiovascular collapse. In addition to PMMA, multiple synthetic amphetamines were present on toxicologic analysis. When evaluating patients suspected of exposure to sympathomimetic drugs of abuse, clinicians must anticipate multiple clinical effects from the increased release of dopamine, serotonin, norepinephrine and other neurotransmitters.

Further Evidence of Subphenotype Association with Systemic Lupus Erythematosus Susceptibility Loci: A European Cases Only Study

PubMed Central

Alonso-Perez, Elisa; Suarez-Gestal, Marian; Calaza, Manuel; Ordi-Ros, Josep; Balada, Eva; Bijl, Marc; Papasteriades, Chryssa; Carreira, Patricia; Skopouli, Fotini N.; Witte, Torsten; Endreffy, Emöke; Marchini, Maurizio; Migliaresi, Sergio; Sebastiani, Gian Domenico; Santos, Maria Jose; Suarez, Ana; Blanco, Francisco J.; Barizzone, Nadia; Pullmann, Rudolf; Ruzickova, Sarka; Lauwerys, Bernard R.; Gomez-Reino, Juan J.; Gonzalez, Antonio

2012-01-01

Introduction Systemic Lupus Erythematosus (SLE) shows a spectrum of clinical manifestations that complicate its diagnosis, treatment and research. This variability is likely related with environmental exposures and genetic factors among which known SLE susceptibility loci are prime candidates. The first published analyses seem to indicate that this is the case for some of them, but results are still inconclusive and we aimed to further explore this question. Methods European SLE patients, 1444, recruited at 17 centres from 10 countries were analyzed. Genotypes for 26 SLE associated SNPs were compared between patients with and without each of 11 clinical features: ten of the American College of Rheumatology (ACR) classification criteria (except ANAs) and age of disease onset. These analyses were adjusted for centre of recruitment, top ancestry informative markers, gender and time of follow-up. Overlap of samples with previous studies was excluded for assessing replication. Results There were three new associations: the SNPs in XKR6 and in FAM167A-BLK were associated with lupus nephritis (OR = 0.76 and 1.30, Pcorr = 0.007 and 0.03, respectively) and the SNP of MECP2, which is in chromosome X, with earlier age of disease onset in men. The previously reported association of STAT4 with early age of disease onset was replicated. Some other results were suggestive of the presence of additional associations. Together, the association signals provided support to some previous findings and to the characterization of lupus nephritis, autoantibodies and age of disease onset as the clinical features more associated with SLE loci. Conclusion Some of the SLE loci shape the disease phenotype in addition to increase susceptibility to SLE. This influence is more prominent for some clinical features than for others. However, results are only partially consistent between studies and subphenotype specific GWAS are needed to unravel their genetic component. PMID:23049788

Early- and late-onset Alzheimer disease: Are they the same entity?

PubMed

Tellechea, P; Pujol, N; Esteve-Belloch, P; Echeveste, B; García-Eulate, M R; Arbizu, J; Riverol, M

2018-05-01

Early-onset Alzheimer disease (EOAD), which presents in patients younger than 65 years, has frequently been described as having different features from those of late-onset Alzheimer disease (LOAD). This review analyses the most recent studies comparing the clinical presentation and neuropsychological, neuropathological, genetic, and neuroimaging findings of both types in order to determine whether EOAD and LOAD are different entities or distinct forms of the same entity. We observed consistent differences between clinical findings in EOAD and in LOAD. Fundamentally, the onset of EOAD is more likely to be marked by atypical symptoms, and cognitive assessments point to poorer executive and visuospatial functioning and praxis with less marked memory impairment. Alzheimer-type features will be more dense and widespread in neuropathology studies, with structural and functional neuroimaging showing greater and more diffuse atrophy extending to neocortical areas (especially the precuneus). In conclusion, available evidence suggests that EOAD and LOAD are 2 different forms of a single entity. LOAD is likely to be influenced by ageing-related processes. Copyright © 2015 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

In “Step” with HIV Vaccines? A Content Analysis of Local Recruitment Campaigns for an International HIV Vaccine Study

PubMed Central

Frew, Paula M.; Macias, Wendy; Chan, Kayshin; Harding, Ashley C.

2009-01-01

During the past two decades of the HIV/AIDS pandemic, several recruitment campaigns were designed to generate community involvement in preventive HIV vaccine clinical trials. These efforts utilized a blend of advertising and marketing strategies mixed with public relations and community education approaches to attract potential study participants to clinical trials (integrated marketing communications). Although more than 30,000 persons worldwide have participated in preventive HIV vaccine studies, no systematic analysis of recruitment campaigns exists. This content analysis study was conducted to examine several United States and Canadian recruitment campaigns for one of the largest-scale HIV vaccine trials to date (the “Step Study”). This study examined persuasive features consistent with the Elaboration Likelihood Model (ELM) including message content, personal relevance of HIV/AIDS and vaccine research, intended audiences, information sources, and other contextual features. The results indicated variation in messages and communication approaches with gay men more exclusively targeted in these regions. Racial/ethnic representations also differed by campaign. Most of the materials promote affective evaluation of the information through heuristic cueing. Implications for subsequent campaigns and research directions are discussed. PMID:19609373

In "Step" with HIV Vaccines? A Content Analysis of Local Recruitment Campaigns for an International HIV Vaccine Study.

PubMed

Frew, Paula M; Macias, Wendy; Chan, Kayshin; Harding, Ashley C

2009-01-01

During the past two decades of the HIV/AIDS pandemic, several recruitment campaigns were designed to generate community involvement in preventive HIV vaccine clinical trials. These efforts utilized a blend of advertising and marketing strategies mixed with public relations and community education approaches to attract potential study participants to clinical trials (integrated marketing communications). Although more than 30,000 persons worldwide have participated in preventive HIV vaccine studies, no systematic analysis of recruitment campaigns exists. This content analysis study was conducted to examine several United States and Canadian recruitment campaigns for one of the largest-scale HIV vaccine trials to date (the "Step Study"). This study examined persuasive features consistent with the Elaboration Likelihood Model (ELM) including message content, personal relevance of HIV/AIDS and vaccine research, intended audiences, information sources, and other contextual features. The results indicated variation in messages and communication approaches with gay men more exclusively targeted in these regions. Racial/ethnic representations also differed by campaign. Most of the materials promote affective evaluation of the information through heuristic cueing. Implications for subsequent campaigns and research directions are discussed.

Glutaric aciduria type 1: neuroimaging features with clinical correlation.

PubMed

Mohammad, Shaimaa Abdelsattar; Abdelkhalek, Heba Salah; Ahmed, Khaled A; Zaki, Osama K

2015-10-01

Glutaric aciduria type 1 is a rare neurometabolic disease with high morbidity. To describe the MR imaging abnormalities in glutaric aciduria type 1 and to identify any association between the clinical and imaging features. MRI scans of 29 children (mean age: 16.9 months) with confirmed diagnosis of glutaric aciduria type 1 were retrospectively reviewed. Gray matter and white matter scores were calculated based on a previously published pattern-recognition approach of assessing leukoencephalopathies. Hippocampal formation and opercular topography were assessed in relation to the known embryological basis. MRI scores were correlated with morbidity score. The most consistent MRI abnormality was widened operculum with dilatation of the subarachnoid spaces surrounding underdeveloped frontotemporal lobes. Incomplete hippocampal inversion was also seen. The globus pallidus was the most frequently involved gray matter structure (86%). In addition to the central tegmental tract, white matter abnormalities preferentially involved the central and periventricular regions. The morbidity score correlated with the gray matter abnormality score (P = 0.004). Patients with dystonia had higher gray matter and morbidity scores. Morbidity is significantly correlated with abnormality of gray matter, rather than white matter, whether secondary to acute encephalopathic crisis or insidious onset disease.

Non-motor symptoms in Parkinson's disease.

PubMed

Poewe, W

2008-04-01

Although still considered a paradigmatic movement disorder, Parkinson's disease (PD) is associated with a broad spectrum of non-motor symptoms. These include disorders of mood and affect with apathy, anhedonia and depression, cognitive dysfunction and hallucinosis, as well as complex behavioural disorders. Sensory dysfunction with hyposmia or pain is almost universal, as are disturbances of sleep-wake cycle regulation. Autonomic dysfunction including orthostatic hypotension, urogenital dysfunction and constipation is also present to some degree in a majority of patients. Whilst overall non-motor symptoms become increasingly prevalent with advancing disease, many of them can also antedate the first occurrence of motor signs - most notably depression, hyposmia or rapid eye movement sleep behaviour disorder (RBD). Although exact clinicopathological correlations for most of these non-motor features are still poorly understood, the occurrence of constipation, RBD or hyposmia prior to the onset of clinically overt motor dysfunction would appear consistent with the ascending hypothesis of PD pathology proposed by Braak and colleagues. Screening these early non-motor features might, therefore, be one approach towards early 'preclinical' diagnosis of PD. This review article provides an overview of the clinical spectrum of non-motor symptoms in PD together with a brief review of treatment options.

Fibrous hamartoma of infancy: a clinical pathological analysis of seventeen cases

PubMed Central

Yu, Guojun; Wang, Yibing; Wang, Guangjun; Zhang, Dawei; Sun, Yong

2015-01-01

To discuss the clinical and pathological features, differential diagnosis and prognosis of fibrous hamartoma of infancy (FHI), seventeen FHI specimens were analyzed with H&E staining and strepavidin peroxidase (SP) immunohistochemistry to detect distinguishing tissue markers. The long-term outcomes of select cases were also obtained. Among the 17 patients (13 males, 4 females, average age 16 months), FHI manifested as a subcutaneous painless mass, primarily on the back of the neck, the upper arms and buttocks. One recurrence was noted among six follow-up cases. The tumors consisted of three main components: fibrous connective tissue; mature fat; and undifferentiated mesenchymal tissue. Immunohistochemistry revealed that fibrous connective tissue was positive for SMA and actin, mature fat tissue was positive for S-100 protein, and undifferentiated mesenchymal tissue was positive for CD34 and was partially positive for actin and SMA. The tumors were negative for desmin, NSE, bcl-2, β-catenin and Ki-67. In brief, FHI is a benign, fibroblastic/myofibroblastic proliferative lesion. Defined histologic features of FHI as presented here would distinguish FHI from similar invasive tumors including infant fibromatosis, calcifying aponeurotic fibroma, fibrous fatty tumor and embryonal rhabdomyosarcoma. Once clearly identified, FHI is curable with complete resection. PMID:26045872

Fibrous hamartoma of infancy: a clinical pathological analysis of seventeen cases.

PubMed

Yu, Guojun; Wang, Yibing; Wang, Guangjun; Zhang, Dawei; Sun, Yong

2015-01-01

To discuss the clinical and pathological features, differential diagnosis and prognosis of fibrous hamartoma of infancy (FHI), seventeen FHI specimens were analyzed with H&E staining and strepavidin peroxidase (SP) immunohistochemistry to detect distinguishing tissue markers. The long-term outcomes of select cases were also obtained. Among the 17 patients (13 males, 4 females, average age 16 months), FHI manifested as a subcutaneous painless mass, primarily on the back of the neck, the upper arms and buttocks. One recurrence was noted among six follow-up cases. The tumors consisted of three main components: fibrous connective tissue; mature fat; and undifferentiated mesenchymal tissue. Immunohistochemistry revealed that fibrous connective tissue was positive for SMA and actin, mature fat tissue was positive for S-100 protein, and undifferentiated mesenchymal tissue was positive for CD34 and was partially positive for actin and SMA. The tumors were negative for desmin, NSE, bcl-2, β-catenin and Ki-67. In brief, FHI is a benign, fibroblastic/myofibroblastic proliferative lesion. Defined histologic features of FHI as presented here would distinguish FHI from similar invasive tumors including infant fibromatosis, calcifying aponeurotic fibroma, fibrous fatty tumor and embryonal rhabdomyosarcoma. Once clearly identified, FHI is curable with complete resection.

MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases

PubMed Central

Cheng, Ailan; Han, Lianshu; Feng, Yun; Li, Huimin; Yao, Rong; Wang, Dengbin; Jin, Biao

2017-01-01

PURPOSE We aimed to evaluate the magnetic resonance imaging (MRI) and clinical features of maple syrup urine disease (MSUD). METHODS This retrospective study consisted of 10 MSUD patients confirmed by genetic testing. All patients underwent brain MRI. Phenotype, genotype, and areas of brain injury on MRI were retrospectively reviewed. RESULTS Six patients (60%) had the classic form of MSUD with BCKDHB mutation, three patients (30%) had the intermittent form (two with BCKDHA mutations and one with DBT mutation), and one patient (10%) had the thiamine-responsive form with DBT mutation. On diffusion-weighted imaging, nine cases presented restricted diffusion in myelinated areas, and one intermittent case with DBT mutation was normal. The classic form of MSUD involved the basal ganglia in six cases; the cerebellum, mesencephalon, pons, and supratentorial area in five cases; and the thalamus in four cases, respectively. The intermittent form involved the cerebellum, pons, and supratentorial area in two cases. The thiamine-responsive form involved the basal ganglia and supratentorial area. CONCLUSION Our preliminary results indicate that patients with MSUD presented more commonly in classic form with BCKDHB mutation and displayed extensive brain injury on MRI. PMID:28830848

Good cognitive performances in a child with Prader-Willi syndrome.

PubMed

Nugnes, Rosa; Zito, Eugenio; Mozzillo, Enza; Camarca, Maria Erminia; Riccio, Maria Pia; Terrone, Gaetano; Melis, Daniela; Bravaccio, Carmela; Franzese, Adriana

2013-11-15

We report the case of a child affected by Prader-Willi syndrome (PWS) with good cognitive performances and without relevant behavioral abnormalities.The diagnosis of PWS, suspected on the basis of clinical features and past history, was confirmed by DNA methylation analysis. Additional genetic testing revealed a maternal uniparental disomy. Intellectual profile was analyzed by WISC-III and Raven's Progressive Matrices CPM, while the behavior was evaluated by K-SADS-PL and Child Behavior Checklist/4-18 to the parents.WISC-III test showed a Total Intelligence Quotient (T-IQ = 79) at the border level for age. The Verbal Intelligence Quotient (V-IQ) showed a lower score than the Performance Intelligence Quotient (P-IQ) (78 and 85, respectively). Raven's Matrices CPM showed an intelligence level at 75-90° percentile for age. Concerning behavioral evaluation, a difficulty in impulse control was observed, with persistent but controllable search for food, without a clear psychopathological meaning. Also according to K-SADS-PL no areas of psychopathological dimensions were detected. In conclusion, in presence of consisting clinical features of PWS and high diagnostic suspicion, the diagnosis of PWS should be considered even in presence of a borderline IQ and in absence of psychopathological abnormalities.

BRIEF REPORT: Beyond Clinical Experience: Features of Data Collection and Interpretation That Contribute to Diagnostic Accuracy

PubMed Central

Nendaz, Mathieu R; Gut, Anne M; Perrier, Arnaud; Louis-Simonet, Martine; Blondon-Choa, Katherine; Herrmann, François R; Junod, Alain F; Vu, Nu V

2006-01-01

BACKGROUND Clinical experience, features of data collection process, or both, affect diagnostic accuracy, but their respective role is unclear. OBJECTIVE, DESIGN Prospective, observational study, to determine the respective contribution of clinical experience and data collection features to diagnostic accuracy. METHODS Six Internists, 6 second year internal medicine residents, and 6 senior medical students worked up the same 7 cases with a standardized patient. Each encounter was audiotaped and immediately assessed by the subjects who indicated the reasons underlying their data collection. We analyzed the encounters according to diagnostic accuracy, information collected, organ systems explored, diagnoses evaluated, and final decisions made, and we determined predictors of diagnostic accuracy by logistic regression models. RESULTS Several features significantly predicted diagnostic accuracy after correction for clinical experience: early exploration of correct diagnosis (odds ratio [OR] 24.35) or of relevant diagnostic hypotheses (OR 2.22) to frame clinical data collection, larger number of diagnostic hypotheses evaluated (OR 1.08), and collection of relevant clinical data (OR 1.19). CONCLUSION Some features of data collection and interpretation are related to diagnostic accuracy beyond clinical experience and should be explicitly included in clinical training and modeled by clinical teachers. Thoroughness in data collection should not be considered a privileged way to diagnostic success. PMID:17105525

Group sparse multiview patch alignment framework with view consistency for image classification.

PubMed

Gui, Jie; Tao, Dacheng; Sun, Zhenan; Luo, Yong; You, Xinge; Tang, Yuan Yan

2014-07-01

No single feature can satisfactorily characterize the semantic concepts of an image. Multiview learning aims to unify different kinds of features to produce a consensual and efficient representation. This paper redefines part optimization in the patch alignment framework (PAF) and develops a group sparse multiview patch alignment framework (GSM-PAF). The new part optimization considers not only the complementary properties of different views, but also view consistency. In particular, view consistency models the correlations between all possible combinations of any two kinds of view. In contrast to conventional dimensionality reduction algorithms that perform feature extraction and feature selection independently, GSM-PAF enjoys joint feature extraction and feature selection by exploiting l(2,1)-norm on the projection matrix to achieve row sparsity, which leads to the simultaneous selection of relevant features and learning transformation, and thus makes the algorithm more discriminative. Experiments on two real-world image data sets demonstrate the effectiveness of GSM-PAF for image classification.

Distinguishing early and late brain aging from the Alzheimer's disease spectrum: consistent morphological patterns across independent samples.

PubMed

Doan, Nhat Trung; Engvig, Andreas; Zaske, Krystal; Persson, Karin; Lund, Martina Jonette; Kaufmann, Tobias; Cordova-Palomera, Aldo; Alnæs, Dag; Moberget, Torgeir; Brækhus, Anne; Barca, Maria Lage; Nordvik, Jan Egil; Engedal, Knut; Agartz, Ingrid; Selbæk, Geir; Andreassen, Ole A; Westlye, Lars T

2017-09-01

Alzheimer's disease (AD) is a debilitating age-related neurodegenerative disorder. Accurate identification of individuals at risk is complicated as AD shares cognitive and brain features with aging. We applied linked independent component analysis (LICA) on three complementary measures of gray matter structure: cortical thickness, area and gray matter density of 137 AD, 78 mild (MCI) and 38 subjective cognitive impairment patients, and 355 healthy adults aged 18-78 years to identify dissociable multivariate morphological patterns sensitive to age and diagnosis. Using the lasso classifier, we performed group classification and prediction of cognition and age at different age ranges to assess the sensitivity and diagnostic accuracy of the LICA patterns in relation to AD, as well as early and late healthy aging. Three components showed high sensitivity to the diagnosis and cognitive status of AD, with different relationships with age: one reflected an anterior-posterior gradient in thickness and gray matter density and was uniquely related to diagnosis, whereas the other two, reflecting widespread cortical thickness and medial temporal lobe volume, respectively, also correlated significantly with age. Repeating the LICA decomposition and between-subject analysis on ADNI data, including 186 AD, 395 MCI and 220 age-matched healthy controls, revealed largely consistent brain patterns and clinical associations across samples. Classification results showed that multivariate LICA-derived brain characteristics could be used to predict AD and age with high accuracy (area under ROC curve up to 0.93 for classification of AD from controls). Comparison between classifiers based on feature ranking and feature selection suggests both common and unique feature sets implicated in AD and aging, and provides evidence of distinct age-related differences in early compared to late aging. Copyright © 2017 Elsevier Inc. All rights reserved.

Data Safe Havens and Trust: Toward a Common Understanding of Trusted Research Platforms for Governing Secure and Ethical Health Research

PubMed Central

Nicholls, Jacqueline; Dobbs, Christine; Sethi, Nayha; Cunningham, James; Ainsworth, John; Heaven, Martin; Peacock, Trevor; Peacock, Anthony; Jones, Kerina; Laurie, Graeme; Kalra, Dipak

2016-01-01

In parallel with the advances in big data-driven clinical research, the data safe haven concept has evolved over the last decade. It has led to the development of a framework to support the secure handling of health care information used for clinical research that balances compliance with legal and regulatory controls and ethical requirements while engaging with the public as a partner in its governance. We describe the evolution of 4 separately developed clinical research platforms into services throughout the United Kingdom-wide Farr Institute and their common deployment features in practice. The Farr Institute is a case study from which we propose a common definition of data safe havens as trusted platforms for clinical academic research. We use this common definition to discuss the challenges and dilemmas faced by the clinical academic research community, to help promote a consistent understanding of them and how they might best be handled in practice. We conclude by questioning whether the common definition represents a safe and trustworthy model for conducting clinical research that can stand the test of time and ongoing technical advances while paying heed to evolving public and professional concerns. PMID:27329087

Quantitative radiomics studies for tissue characterization: a review of technology and methodological procedures.

PubMed

Larue, Ruben T H M; Defraene, Gilles; De Ruysscher, Dirk; Lambin, Philippe; van Elmpt, Wouter

2017-02-01

Quantitative analysis of tumour characteristics based on medical imaging is an emerging field of research. In recent years, quantitative imaging features derived from CT, positron emission tomography and MR scans were shown to be of added value in the prediction of outcome parameters in oncology, in what is called the radiomics field. However, results might be difficult to compare owing to a lack of standardized methodologies to conduct quantitative image analyses. In this review, we aim to present an overview of the current challenges, technical routines and protocols that are involved in quantitative imaging studies. The first issue that should be overcome is the dependency of several features on the scan acquisition and image reconstruction parameters. Adopting consistent methods in the subsequent target segmentation step is evenly crucial. To further establish robust quantitative image analyses, standardization or at least calibration of imaging features based on different feature extraction settings is required, especially for texture- and filter-based features. Several open-source and commercial software packages to perform feature extraction are currently available, all with slightly different functionalities, which makes benchmarking quite challenging. The number of imaging features calculated is typically larger than the number of patients studied, which emphasizes the importance of proper feature selection and prediction model-building routines to prevent overfitting. Even though many of these challenges still need to be addressed before quantitative imaging can be brought into daily clinical practice, radiomics is expected to be a critical component for the integration of image-derived information to personalize treatment in the future.

Automatic staging of bladder cancer on CT urography

NASA Astrophysics Data System (ADS)

Garapati, Sankeerth S.; Hadjiiski, Lubomir M.; Cha, Kenny H.; Chan, Heang-Ping; Caoili, Elaine M.; Cohan, Richard H.; Weizer, Alon; Alva, Ajjai; Paramagul, Chintana; Wei, Jun; Zhou, Chuan

2016-03-01

Correct staging of bladder cancer is crucial for the decision of neoadjuvant chemotherapy treatment and minimizing the risk of under- or over-treatment. Subjectivity and variability of clinicians in utilizing available diagnostic information may lead to inaccuracy in staging bladder cancer. An objective decision support system that merges the information in a predictive model based on statistical outcomes of previous cases and machine learning may assist clinicians in making more accurate and consistent staging assessments. In this study, we developed a preliminary method to stage bladder cancer. With IRB approval, 42 bladder cancer cases with CTU scans were collected from patient files. The cases were classified into two classes based on pathological stage T2, which is the decision threshold for neoadjuvant chemotherapy treatment (i.e. for stage >=T2) clinically. There were 21 cancers below stage T2 and 21 cancers at stage T2 or above. All 42 lesions were automatically segmented using our auto-initialized cascaded level sets (AI-CALS) method. Morphological features were extracted, which were selected and merged by linear discriminant analysis (LDA) classifier. A leave-one-case-out resampling scheme was used to train and test the classifier using the 42 lesions. The classification accuracy was quantified using the area under the ROC curve (Az). The average training Az was 0.97 and the test Az was 0.85. The classifier consistently selected the lesion volume, a gray level feature and a contrast feature. This predictive model shows promise for assisting in assessing the bladder cancer stage.

Brainstem angiocentric glioma: report of 2 cases.

PubMed

Weaver, Kristin J; Crawford, Lexi M; Bennett, Jeffrey A; Rivera-Zengotita, Marie L; Pincus, David W

2017-10-01

Angiocentric glioma is a rare tumor that was recognized by the WHO Classification of Tumours of the Central Nervous System as a distinct clinicopathological entity in 2007. Since this initial description, the vast majority of cases of angiocentric glioma reported in the literature have involved tumors of the cerebral hemispheres. To date, only 1 case of angiocentric glioma arising from the posterior midbrain has been reported. The authors present the cases of 2 pediatric patients who were found to have brainstem angiocentric gliomas. The clinical course, radiological and pathological features, treatment, and follow-up are described. The first case is one of a 5-year-old girl who presented with double vision, headache, and nausea and was found to have a midbrain lesion with pathological features consistent with angiocentric glioma. She was treated with resection and endoscopic third ventriculostomy (ETV), followed by close observation and serial neuroimaging. The second case is one of a 6-year-old boy who presented with progressive mouth drooping and problems with balance. He was found to have a pontine lesion with pathological features consistent with angiocentric glioma. This patient was treated with ETV, followed by close observation and serial neuroimaging. This report includes 6 and 1.5 years of follow-up of the patients, respectively. While there are limited data regarding the prognosis or long-term management of patients with brainstem angiocentric gliomas, the cases described in this report suggest an indolent course for this tumor, similar to the course of angiocentric gliomas located in the cerebral hemispheres.

A systematic review of interventions to improve diabetes care in socially disadvantaged populations.

PubMed

Glazier, Richard H; Bajcar, Jana; Kennie, Natalie R; Willson, Kristie

2006-07-01

To identify and synthesize evidence about the effectiveness of patient, provider, and health system interventions to improve diabetes care among socially disadvantaged populations. Studies that were included targeted interventions toward socially disadvantaged adults with type 1 or type 2 diabetes; were conducted in industrialized countries; were measured outcomes of self-management, provider management, or clinical outcomes; and were randomized controlled trials, controlled trials, or before-and-after studies with a contemporaneous control group. Seven databases were searched for articles published in any language between January 1986 and December 2004. Twenty-six intervention features were identified and analyzed in terms of their association with successful or unsuccessful interventions. Eleven of 17 studies that met inclusion criteria had positive results. Features that appeared to have the most consistent positive effects included cultural tailoring of the intervention, community educators or lay people leading the intervention, one-on-one interventions with individualized assessment and reassessment, incorporating treatment algorithms, focusing on behavior-related tasks, providing feedback, and high-intensity interventions (>10 contact times) delivered over a long duration (>or=6 months). Interventions that were consistently associated with the largest negative outcomes included those that used mainly didactic teaching or that focused only on diabetes knowledge. This systematic review provides evidence for the effectiveness of interventions to improve diabetes care among socially disadvantaged populations and identifies key intervention features that may predict success. These types of interventions would require additional resources for needs assessment, leader training, community and family outreach, and follow-up.

Epidemiology of low back pain.

PubMed

Skovron, M L

1992-10-01

At present, although there have been many epidemiological studies of risk factors for low back pain, there are few risk factors established in prospective studies; and our understanding of them remains relatively crude. Individuals in jobs requiring manual materials handling, particularly repeated heavy lifting and lifting while twisting, are at increased risk of back pain leading to work absence. In addition, exposure to whole-body vibration and job requirements for static postures are associated with back pain. Individual trunk strength has not been consistently demonstrated as associated with back pain; although there is some suggestion that when work requirements for heavy lifting exceed individual capacities, back pain is more likely to occur. The pattern of peak age at onset in the 20's is consistent with back pain development early in working life. Among other individual characteristics, only cigarette smoking has consistently been associated with back pain; and the biological mechanism for this finding is not understood. Evidence with respect to spinal flexibility, aerobic capacity, educational attainment and other variables is suggestive but not consistent. There is some evidence that the individual's relation to work, expressed as job satisfaction or supervisor rating, is also related to work absence due to back pain. While it is possible to describe, however crudely, the characteristics placing people at risk for back pain leading to work absence and/or medical attention, the problem of predicting chronicity and thus identifying patients for more intensive clinical intervention remains unresolved. At this time, only age of the patient and certain clinical features of the back pain such as the presence of sciatic symptoms, duration of the current episode, and history of prior episodes are consistently demonstrated predictors. In chronic patients, there is suggestive evidence that spinal flexibility, trunk strength, and certain psychological characteristics such as coping skills, fear and avoidance of pain or movement, job satisfaction, attribution of fault and hysterical or hypochondriacal features are associated with treatment failure. In addition, there is suggestive evidence that the availability of alternative work placement may allow for earlier return to work than otherwise. While the availability of disability compensation in excess of usual wages may serve as a disincentive to return to work. The latter-cited remain to be verified, while findings in chronic patients remain to be tested in acute. Further, the role of physical demands of work in duration of back pain episodes has not been well studied.

Enhancement of Self-Monitoring in a Web-Based Weight Loss Program by Extra Individualized Feedback and Reminders: Randomized Trial

PubMed Central

Hutchesson, Melinda Jane; Tan, Chor Yin; Morgan, Philip; Callister, Robin

2016-01-01

Background Self-monitoring is an essential behavioral strategy for effective weight loss programs. Traditionally, self-monitoring has been achieved using paper-based records. However, technology is now more frequently used to deliver treatment programs to overweight and obese adults. Information technologies, such as the Internet and mobile phones, allow innovative intervention features to be incorporated into treatment that may facilitate greater adherence to self-monitoring processes, provide motivation for behavior change, and ultimately lead to greater weight loss success. Objective The objective of our study was to determine whether the consistency of self-monitoring differed between participants randomly assigned to a basic or an enhanced 12-week commercial Web-based weight loss program. Methods We randomly assigned a sample of 301 adults (mean age 42.3 years; body mass index 31.3 kg/m2; female 176/301, 58.5%) to the basic or enhanced group. The basic program included tools for self-monitoring (online food and exercise diary, and a weekly weigh-in log) with some feedback and reminders to weigh in (by text or email). The enhanced program included the basic components, as well as extra individualized feedback on self-monitoring entries and reminders (by text, email, or telephone) to engage with self-monitoring tools. We evaluated the level of self-monitoring by examining the consistency of self-monitoring of food, exercise, and weight during the 12 weeks. Consistency was defined as the number of weeks during which participants completed a criterion number of entries (ie, ≥3 days of online food or exercise diary records per week and ≥1 weigh-in per week). Results The enhanced group’s consistency of use of self-monitoring tools was significantly greater than that of the basic group throughout the 12 weeks (median consistency for food 8 vs 3 weeks, respectively, P<.001; for exercise 2.5 vs 1 weeks, respectively, P=.003). Conclusions Enhanced features, including additional individualized feedback and reminders, are effective in enhancing self-monitoring behaviors in a Web-based weight loss program. ClinicalTrial Australian New Zealand Clinical Trials Registry (ANZCTR): ACTRN12610000197033; https://www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=335159 (Archived by WebCite at http://www.webcitation.org/6gCQdj21G) PMID:27072817

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

Localization of immunoglobulins and complement by the peroxidase antiperoxidase method in autoimmune and non-autoimmune canine dermatopathies.

PubMed

Moore, F M; White, S D; Carpenter, J L; Torchon, E

1987-01-01

Formalin-fixed, paraffin embedded skin biopsy specimens from 44 dogs with various dermatopathies were examined for the presence of immunoglobulins (IgG, IgM, IgA) and complement (C3) by the peroxidase antiperoxidase method (PAP). Final diagnoses of the skin diseases were determined by clinical findings, fungal and bacterial cultures, skin scrapings, serum endocrinologic tests, and histologic features of cutaneous biopsies. The dermatopathies included examples of pyoderma (folliculitis/furunculosis), demodecosis, sarcoptic mange, dermatophytosis, endocrine dermatopathy, and autoimmune skin disease (AISD). In the latter category, 7 cases of pemphigus foliaceus, 1 pemphigus vulgaris, 4 discoid lupus erythematosus (DLE) and 4 examples of indeterminate AISD were examined. Immunoglobulins, C3, or both, were localized in tissue sections from AISD (15/16), pyoderma (7/11), demodecosis (4/8) sarcoptic mange (3/3), and dermatomycosis (2/3). Endocrine dermatopathy biopsies were consistently negative for Ig and C3 (0/3). The pattern of localization was most often intercellular (31/44 positive biopsies) with basement membrane immunoreactivity in 4 cases of DLE, and 1 case of indeterminate AISD. There was no consistent correlation between histologic features of hematoxylin and eosin-stained biopsies and the presence of Ig and C3. Clinical outcome was similar in both Ig and C3 positive and negative cases of non-AISD dermatitis. The high percentage (95%) of positive results in AISD biopsies indicates the usefulness and sensitivity of the PAP method for the localization of Ig and C3. Because of the high percentage of Ig localization in pyoderma (73%), biopsy specimens with extensive inflammatory skin disease are not suitable for diagnosis of AISD. The PAP method is useful in the diagnosis of AISD in biopsy specimens with minimal inflammation. Caution is warranted in the interpretation of immunoreactivity independent of clinical and histologic information.

Multimodal characterization of the semantic N400 response within a rapid evaluation brain vital sign framework.

PubMed

Ghosh Hajra, Sujoy; Liu, Careesa C; Song, Xiaowei; Fickling, Shaun D; Cheung, Teresa P L; D'Arcy, Ryan C N

2018-06-04

For nearly four decades, the N400 has been an important brainwave marker of semantic processing. It can be recorded non-invasively from the scalp using electrical and/or magnetic sensors, but largely within the restricted domain of research laboratories specialized to run specific N400 experiments. However, there is increasing evidence of significant clinical utility for the N400 in neurological evaluation, particularly at the individual level. To enable clinical applications, we recently reported a rapid evaluation framework known as "brain vital signs" that successfully incorporated the N400 response as one of the core components for cognitive function evaluation. The current study characterized the rapidly evoked N400 response to demonstrate that it shares consistent features with traditional N400 responses acquired in research laboratory settings-thereby enabling its translation into brain vital signs applications. Data were collected from 17 healthy individuals using magnetoencephalography (MEG) and electroencephalography (EEG), with analysis of sensor-level effects as well as evaluation of brain sources. Individual-level N400 responses were classified using machine learning to determine the percentage of participants in whom the response was successfully detected. The N400 response was observed in both M/EEG modalities showing significant differences to incongruent versus congruent condition in the expected time range (p < 0.05). Also as expected, N400-related brain activity was observed in the temporal and inferior frontal cortical regions, with typical left-hemispheric asymmetry. Classification robustly confirmed the N400 effect at the individual level with high accuracy (89%), sensitivity (0.88) and specificity (0.90). The brain vital sign N400 characteristics were highly consistent with features of the previously reported N400 responses acquired using traditional laboratory-based experiments. These results provide important evidence supporting clinical translation of the rapidly acquired N400 response as a potential tool for assessments of higher cognitive functions.

Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria.

PubMed

Cortés-Vicente, Elena; Pradas, Jesús; Marín-Lahoz, Juan; De Luna, Noemi; Clarimón, Jordi; Turon-Sans, Janina; Gelpí, Ellen; Díaz-Manera, Jordi; Illa, Isabel; Rojas-Garcia, Ricard

2017-08-01

To describe the frequency and clinical characteristics of patients referred to a tertiary neuromuscular clinic as having amyotrophic lateral sclerosis (ALS) but who were re-diagnosed as having an ALS mimic syndrome, and to identify the reasons that led to the revision of the diagnosis. We reviewed the final diagnosis of all patients prospectively registered in the Sant Pau-MND register from 1 January 2004 to 31 December 2015. A detailed clinical evaluation and a clinically-guided electrophysiological study were performed at first evaluation. Twenty of 314 (6.4%) patients included were re-diagnosed as having a condition other than ALS, in 18 cases already at first evaluation. An alternative specific diagnosis was identified in 17 of those 20, consisting of a wide range of conditions. The main finding leading to an alternative diagnosis was the result of the electrophysiological study. Fifty per cent did not fulfil the El Escorial revised criteria (EECr) for ALS. The most common clinical phenotype at onset in patients with ALS mimic syndromes was progressive muscular atrophy (PMA). Misdiagnosing ALS is still a common problem. Early identification of ALS mimic syndromes is possible based on atypical clinical features and a clinically-guided electrophysiological study. Patients should be attended in specialised centres. The application of EECr helps to identify ALS misdiagnoses.

Methods and dimensions of electronic health record data quality assessment: enabling reuse for clinical research

PubMed Central

Weng, Chunhua

2013-01-01

Objective To review the methods and dimensions of data quality assessment in the context of electronic health record (EHR) data reuse for research. Materials and methods A review of the clinical research literature discussing data quality assessment methodology for EHR data was performed. Using an iterative process, the aspects of data quality being measured were abstracted and categorized, as well as the methods of assessment used. Results Five dimensions of data quality were identified, which are completeness, correctness, concordance, plausibility, and currency, and seven broad categories of data quality assessment methods: comparison with gold standards, data element agreement, data source agreement, distribution comparison, validity checks, log review, and element presence. Discussion Examination of the methods by which clinical researchers have investigated the quality and suitability of EHR data for research shows that there are fundamental features of data quality, which may be difficult to measure, as well as proxy dimensions. Researchers interested in the reuse of EHR data for clinical research are recommended to consider the adoption of a consistent taxonomy of EHR data quality, to remain aware of the task-dependence of data quality, to integrate work on data quality assessment from other fields, and to adopt systematic, empirically driven, statistically based methods of data quality assessment. Conclusion There is currently little consistency or potential generalizability in the methods used to assess EHR data quality. If the reuse of EHR data for clinical research is to become accepted, researchers should adopt validated, systematic methods of EHR data quality assessment. PMID:22733976

Comparison between cone-beam and multislice computed tomography depicting mandibular neurovascular canal structures.

PubMed

Naitoh, Munetaka; Nakahara, Kino; Suenaga, Yutaka; Gotoh, Kenichi; Kondo, Shintaro; Ariji, Eiichiro

2010-01-01

The most common diagnostic imaging modalities for cross-sectional imaging in dental implant planning are currently cone-beam computed tomography (CBCT) and multislice CT (MSCT). However, clinical differences between CBCT and MSCT in this task have not been fully clarified. In this investigation, the detection of fine anatomical structures in the mandible was assessed and compared between CBCT and MSCT images. The sample consisted of 28 patients who had undergone CBCT and MSCT. The bifid mandibular canal in the mandibular ramus, accessory mental and buccal foramina, and median and lateral lingual bony canals were observed in 2-D images, and the findings were compared between CBCT and MSCT. Four of 19 canals observed in CBCT were not observed in MSCT images. Three accessory mental foramina in 2 patients and 28 lateral lingual bony canals in 18 patients were observed consistently using the two methods. Depiction of fine anatomic features in the mandible associated with neurovascular structures is consistent between CBCT and MSCT images. Copyright 2010 Mosby, Inc. All rights reserved.

An Innovative Method for Obtaining Consistent Images and Quantification of Histochemically Stained Specimens

PubMed Central

Sedgewick, Gerald J.; Ericson, Marna

2015-01-01

Obtaining digital images of color brightfield microscopy is an important aspect of biomedical research and the clinical practice of diagnostic pathology. Although the field of digital pathology has had tremendous advances in whole-slide imaging systems, little effort has been directed toward standardizing color brightfield digital imaging to maintain image-to-image consistency and tonal linearity. Using a single camera and microscope to obtain digital images of three stains, we show that microscope and camera systems inherently produce image-to-image variation. Moreover, we demonstrate that post-processing with a widely used raster graphics editor software program does not completely correct for session-to-session inconsistency. We introduce a reliable method for creating consistent images with a hardware/software solution (ChromaCal™; Datacolor Inc., NJ) along with its features for creating color standardization, preserving linear tonal levels, providing automated white balancing and setting automated brightness to consistent levels. The resulting image consistency using this method will also streamline mean density and morphometry measurements, as images are easily segmented and single thresholds can be used. We suggest that this is a superior method for color brightfield imaging, which can be used for quantification and can be readily incorporated into workflows. PMID:25575568

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

Lesions along the upper motor neuronal pathway with locked-in features after lightning strike and cardiac arrest: a case-review analysis.

PubMed

Abdulla, Susanne; Conrad, Anton; Schwemm, Karl-Peter; Stienstra, Mark P; Gorsselink, Edward L; Dengler, Reinhard; Abdulla, Walied

2014-01-01

This study describes a case of lesions of the upper motor neuronal pathway with locked-in features after lightning strike and cardiac arrest. A case-review analysis. In a 29-year-old male who was hit by a lightning strike during farming activities, cardiopulmonary resuscitation was provided first by co-workers and continued with success by the medical rescue service. After conducting advanced life support under monitoring and therapeutic hypothermia, quadriplegia with facial diplegia was recognized. A review was undertaken detailing the clinical course. MR imaging presented signs consistent with hypoxia-induced damage and diffusion-weighted MR images revealed pronounced damages along the upper motor neuronal pathway. A reactive electroencephalogram pattern, sustained eye movement and the patient communicating via eye-blinking were interpreted as locked-in features. Two weeks after admission the patient was transferred to a neurological rehabilitation centre for further professional care. Direct damage of the upper motor neuron pathway due to the current of the lightning should be considered, albeit the relative contribution of hypoxia-induced damage cannot be separated.

Design and development of a virtual reality simulator for advanced cardiac life support training.

PubMed

Vankipuram, Akshay; Khanal, Prabal; Ashby, Aaron; Vankipuram, Mithra; Gupta, Ashish; DrummGurnee, Denise; Josey, Karen; Smith, Marshall

2014-07-01

The use of virtual reality (VR) training tools for medical education could lead to improvements in the skills of clinicians while providing economic incentives for healthcare institutions. The use of VR tools can also mitigate some of the drawbacks currently associated with providing medical training in a traditional clinical environment such as scheduling conflicts and the need for specialized equipment (e.g., high-fidelity manikins). This paper presents the details of the framework and the development methodology associated with a VR-based training simulator for advanced cardiac life support, a time critical, team-based medical scenario. In addition, we also report the key findings of a usability study conducted to assess the efficacy of various features of this VR simulator through a postuse questionnaire administered to various care providers. The usability questionnaires were completed by two groups that used two different versions of the VR simulator. One version consisted of the VR trainer with it all its features and a minified version with certain immersive features disabled. We found an increase in usability scores from the minified group to the full VR group.

[Poland's syndrome].

PubMed

Slezak, R; Sasiadek, M

2000-08-01

Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

Immigrants' Pathways to Outpatient Mental Health: Are there Differences with the Native Population?

PubMed

Gramaglia, Carla; Gambaro, Eleonora; Rossi, Annalisa; Toso, Alessandra; Feggi, Alessandro; Cattaneo, Carlo Ignazio; Castignoli, Giorgio; Mainini, Piera; Tarricone, Ilaria; Torre, Eugenio; Zeppegno, Patrizia

2016-08-01

A poor use of mental health services has been described in immigrants. We compared the sociodemographic, clinical and treatment features of immigrants and natives attending a Community Mental Health Centre (CMHC). 191 immigrants and 191 randomly selected natives applying to the Borgomanero CMHC between 1 January 2003 and 31 August 2013 were compared. Our sample consisted mainly of the so-called "economic" immigrant. Adjustment disorders and reaction to stress were the most frequent diagnoses; in most cases symptoms onset occurred after migration. Although treatment features overlapped in the two groups (duration, number of contacts), immigrants showed a higher frequency of treatment dropout. While it is necessary to improve access to mental health services for immigrants, for the "economic" immigrant it may be more important to focus on establishing a therapeutic relationship that can be experienced as reliable and trustworthy. The finding of similar pathways to access the CMHC in natives and immigrants is encouraging.

Vaccine-preventable diseases in pediatric patients: a review of measles, mumps, rubella, and varicella [digest].

PubMed

Levine, Deborah A; Pade, Kathryn H

2016-12-22

Vaccine-preventable diseases such as measles, mumps, rubella, and varicella continue to plague children and adults worldwide. Although public health programs have helped decrease the prevalence and sequelae of these diseases, outbreaks still occur. To limit the spread of these diseases, emergency clinicians must be able to readily identify the characteristic presentations of the rashes associated with measles, rubella, and varicella, as well as the common presenting features associated with mumps. Diagnostic laboratory studies are not usually necessary, as a complete history and physical examination usually lead to an accurate diagnosis. Treatment for these vaccine-preventable diseases usually consists of supportive care, but, in some cases, severe complications and death may occur. This issue provides a review of the clinical features, differential diagnoses, potential complications, and treatment options for measles, mumps, rubella, and varicella. [Points & Pearls is a digest of Pediatric Emergency Medicine Practice].

Parvovirus B19 infection in an adult presenting with connective tissue disease-like symptoms: a report of the clinical and histological findings.

PubMed

Liles, J E; Shalin, S C; White, B A; Trigg, L B; Kaley, J R

2017-06-15

Parvovirus B19 infections in adults are usually associated with nonspecific and mild symptoms. However, cases presenting with a lupus-like syndrome have been described, leading to the hypothesis that parvovirus infection can induce connective tissue disease. Various histopathologic features of cutaneous manifestations of parvovirus have been reported, including features which overlap with those of connective tissue disease. Herein, we discuss an unusual case of Parvovirus  B19 infection in a middle-aged woman. The biopsy results showed granulomatous vasculitis and were consistent with the previously described superantigen id reaction. This case demonstrates that infectious causes should be considered in the differential diagnosis for granulomatous vasculitis and clinicopathologic correlation is required for accurate diagnosis. We also provide a review of the literature highlighting the possible role of parvovirus in induction of a connective tissue disease-like presentation.

Behavioral effects of congenital ventromedial prefrontal cortex malformation

PubMed Central

2011-01-01

Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC) has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testing. A central feature of the behavioral profile is severe antisocial behavior. He is aggressive, manipulative, and callous; features consistent with psychopathy. Other problems include: egocentricity, impulsivity, hyperactivity, lack of empathy, lack of respect for authority, impaired moral judgment, an inability to plan ahead, and poor frustration tolerance. Conclusions The vmPFC has a profound contribution to the development of human prosocial behavior. B.W. demonstrates how a congenital lesion to this cortical region severely disrupts this process. PMID:22136635

Electroencephalography in the Diagnosis of Genetic Generalized Epilepsy Syndromes

PubMed Central

Seneviratne, Udaya; Cook, Mark J.; D’Souza, Wendyl Jude

2017-01-01

Genetic generalized epilepsy (GGE) consists of several syndromes diagnosed and classified on the basis of clinical features and electroencephalographic (EEG) abnormalities. The main EEG feature of GGE is bilateral, synchronous, symmetric, and generalized spike-wave complex. Other classic EEG abnormalities are polyspikes, epileptiform K-complexes and sleep spindles, polyspike-wave discharges, occipital intermittent rhythmic delta activity, eye-closure sensitivity, fixation-off sensitivity, and photoparoxysmal response. However, admixed with typical changes, atypical epileptiform discharges are also commonly seen in GGE. There are circadian variations of generalized epileptiform discharges. Sleep, sleep deprivation, hyperventilation, intermittent photic stimulation, eye closure, and fixation-off are often used as activation techniques to increase the diagnostic yield of EEG recordings. Reflex seizure-related EEG abnormalities can be elicited by the use of triggers such as cognitive tasks and pattern stimulation during the EEG recording in selected patients. Distinct electrographic abnormalities to help classification can be identified among different electroclinical syndromes. PMID:28993753

Noonan syndrome.

PubMed

Bhambhani, Vikas; Muenke, Maximilian

2014-01-01

Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome-specific growth charts and treatment guidelines are available.

Redefining cerebral malaria by including malaria retinopathy.

PubMed

Beare, Nicholas A V; Lewallen, Susan; Taylor, Terrie E; Molyneux, Malcolm E

2011-03-01

Accurate diagnosis of cerebral malaria (CM) is important for patient management, epidemiological and end point surveillance, and enrolling patients with CM in studies of pathogenesis or therapeutic trials. In malaria-endemic areas, where asymptomatic Plasmodium falciparum parasitemia is common, a positive blood film in a comatose individual does not prove that the coma is due to malaria. A retinopathy consisting of two unique features - patchy retinal whitening and focal changes of vessel color - is highly specific for encephalopathy of malarial etiology. White-centered retinal hemorrhages are a common but less specific feature. Either indirect or direct ophthalmoscopy can be used to identify the changes, and both procedures can be learned and practiced by nonspecialist clinicians. In view of its important contributions to both clinical care and research, examination of the retina should become a routine component of the assessment of a comatose child or adult when CM is a possible diagnosis.

Redefining cerebral malaria by including malaria retinopathy

PubMed Central

Beare, Nicholas AV; Lewallen, Susan; Taylor, Terrie E; Molyneux, Malcolm E

2011-01-01

Accurate diagnosis of cerebral malaria (CM) is important for patient management, epidemiological and end point surveillance, and enrolling patients with CM in studies of pathogenesis or therapeutic trials. In malaria-endemic areas, where asymptomatic Plasmodium falciparum parasitemia is common, a positive blood film in a comatose individual does not prove that the coma is due to malaria. A retinopathy consisting of two unique features – patchy retinal whitening and focal changes of vessel color – is highly specific for encephalopathy of malarial etiology. White-centered retinal hemorrhages are a common but less specific feature. Either indirect or direct ophthalmoscopy can be used to identify the changes, and both procedures can be learned and practiced by nonspecialist clinicians. In view of its important contributions to both clinical care and research, examination of the retina should become a routine component of the assessment of a comatose child or adult when CM is a possible diagnosis. PMID:21449844

Phenotypic variability of the cat eye syndrome. Case report and review of the literature.

PubMed

Rosias, P R; Sijstermans, J M; Theunissen, P M; Pulles-Heintzberger, C F; De Die-Smulders, C E; Engelen, J J; Van Der Meer, S B

2001-01-01

We present a male infant with preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome. The clinical features in our patient show phenotypic overlap with the cat eye syndrome, as illustrated by the review of 105 reported cases. Cytogenetic analysis revealed a supernumerary marker chromosome, which was identified by microdissection and fluorescence in situ hybridization as an isodicentric chromosome 22(pter --> q11.2::q11.2 --> pter). It was proved with probes specific for the cat eye syndrome critical region that this region was present in quadruplicate in the propositus. We conclude that CES is characterized by large phenotypic variability, ranging from near normal to severe malformations, as reflected in the neurodevelopmental outcome. Preauricular skin tags and/or pits are the most consistent features, and suggest the presence of a supernumerary bisatellited marker chromosome 22 derived from duplication of the CES critical region.

Parasitic causes of prolonged diarrhoea in travellers - diagnosis and management.

PubMed

Slack, Andrew

2012-10-01

Prolonged infectious diarrhoea in the returning traveller is generally caused by protozoal and occasionally by helminth parasites. This article provides a framework for the diagnosis, management and prevention of the diseases that cause persistent diarrhoea in the traveller. A large proportion of disease is caused by Giardia lamblia, Cryptosporidium parvum and Entamoeba histolytica. However, given the ease of travel with comorbid conditions such as human immunodeficiency virus, there is an expanding list of organisms that can cause persistent diarrhoea. An awareness of the likely aetiological agents and their clinical features enables a more effective diagnosis and management of the patient's condition using an appropriate antiparasitic agent. Prevention strategies need to be initiated before travel and should consist of simple but memorable advice. Noninfectious causes of diarrhoea should be considered as diarrhoea can be a prominent feature of conditions such as hyperthyroidism or coeliac disease.

On subclasses of opioid analgesics.

PubMed

Raffa, Robert B

2014-12-01

The history of discovery of analgesic drugs has followed a trajectory from original serendipitous discovery of plant-derived substances to laboratory creation of customized molecules that are intentionally designed to interact with specific receptors of neurotransmitters involved in either the transmission of the pain signal or the attenuation of such a signal. The drugs most recently developed have been designed to provide incremental greater separation between pain relief and adverse effects. The result has been drugs that have individualized pharmacodynamic and pharmacokinetic characteristics that represent specific advances in basic science and translate into unique clinical profiles. Several of the drugs include non-opioid components. They retain some of the features of opioids, but have distinct clinical characteristics that differentiate them from traditional opioids. Thus they defy simple classification as opioids. A summary is provided of the development of the modern view of multi-mechanistic pain and its treatment using analgesics that have multi-mechanisms of action (consisting of both opioid and non-opioid components). Descriptions of examples of such current analgesics and of those that have pharmacokinetic characteristics that result in atypical opioid clinical profiles are given. By serendipity or design, several current strong analgesics have opioid components of action, but have an additional non-opioid mechanism of action or some pharmacokinetic feature that gives them an atypical opioid clinical profile and renders them not easily classified as classical opioids. An appreciation that there are now opioid analgesics that differentiate from classical opioids in ways that defy their simplistic classification as opioids suggests that recognition of subclasses of opioid analgesics would be more accurate scientifically and would be more informative for healthcare providers and regulators. This would likely lead to positive outcomes for the clinical use and regulatory control of the current drugs, and provide direction/strategy for the discovery of new drugs.

Junior doctors' extended work hours and the effects on their performance: the Irish case.

PubMed

Flinn, Fiona; Armstrong, Claire

2011-04-01

To explore the relationship between junior doctors' long working hours and their performance in a variety of cognitive and clinical decision-making tests. Also, to consider the implications of performance decrements in such tests for healthcare quality. A within-subject design was used to eliminate variation related to individual differences. Each participant was tested twice, once post call and once rested. At each session, participants were tested on cognitive functioning and clinical decision-making. The study was based on six acute Irish hospitals during 2008. Thirty junior hospital doctors, ages ranged from 23 to 30 years; of them, 17 of the participants were female and 13 were male. Measures Cognitive functioning was measured by the MindStreams Global Assessment Battery (NeuroTrax Corp., NY, USA). This is a set of computerized tests, designed for use in medical settings, that assesses performance in memory, executive function, visual spatial perception, verbal function, attention, information processing speed and motor skills. Clinical decision-making was tested using Key Features Problems. Each Key Features Problem consists of a case scenario and then three to four questions about this scenario. In an effort to make it more realistic, the speed with which participants completed the three problems was also recorded. Participants' global cognitive scores, attention, information processing speed and motor skills were significantly worse post call than when rested. They also took longer to complete clinical decision-making questions in the post-call condition and obtained lower scores than when rested. There are significant negative changes in doctors' cognitive functioning and clinical decision-making performance that appear to be attributable to long working hours. This therefore raises the important question of whether working long hours decreases healthcare quality and compromises patient safety.

Evidence-based decision-making as a practice-based learning skill: a pilot study.

PubMed

Falzer, Paul R; Garman, D Melissa

2012-03-01

As physicians are being trained to adapt their practices to the needs and experience of patients, initiatives to standardize care have been gaining momentum. The resulting conflict can be addressed through a practice-based learning and improvement (PBL) program that develops competency in using treatment guidelines as decision aids and incorporating patient-specific information into treatment recommendations. This article describes and tests a program that is consistent with the ACGME's multilevel competency-based approach, targets students at four levels of training, and features progressive learning objectives and assessments. The program was pilot-tested with 22 paid volunteer psychiatric residents and fellows. They were introduced to a schizophrenia treatment guideline and reviewed six case vignettes of varying complexity. PBL assessments were based on how treatment recommendations were influenced by clinical and patient-specific factors. The task permitted separate assessments of learning objectives all four training levels. Among the key findings at each level, most participants found the treatment guideline helpful in making treatment decisions. Recommendations were influenced by guideline-based assessment criteria and other clinical features. They were also influenced by patients' perceptions of their illness, patient-based progress assessments, and complications such as stressors and coping patterns. Recommendations were strongly influenced by incongruence between clinical facts and patient experience. Practical understanding of how patient experience joins with clinical knowledge can enhance the use of treatment guidelines as decision tools and enable clinicians to appreciate more fully how and why patients' perceptions of their illness should influence treatment recommendations. This PBL program can assist training facilities in preparing students to cope with contradictory demands to both standardize and adapt their practice. The program can be modified to accommodate various disorders and a range of clinical factors and patient-specific complications.

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…

Modern trends in lipomodeling

PubMed Central

El-Sabbagh, Ahmed Hassan

2017-01-01

Lipomodeling is the process of relocating autologous fat to change the shape, volume, consistency, and profile of tissues, with the aim of reconstructing, rejuvenating, and regenerating body features. There have been several important advancements in lipomodeling procedures during the last thirty years. Four clinical steps are important for the success of engraftment: fat harvesting, fat processing, fat reinjection, and preconditioning of the recipient site. With the discovery of adipose derived stem cells and dedifferentiated cells, fat cells become a major tool of regenerative medicine. This article reviews recent trends in lipomodeling trying to understand most of the issues in this field. PMID:28401032

The Universal Anaesthesia Machine (UAM): assessment of a new anaesthesia workstation built with global health in mind.

PubMed

de Beer, D A H; Nesbitt, F D; Bell, G T; Rapuleng, A

2017-04-01

The Universal Anaesthesia Machine has been developed as a complete anaesthesia workstation for use in low- and middle-income countries, where the provision of safe general anaesthesia is often compromised by unreliable supply of electricity and anaesthetic gases. We performed a functional and clinical assessment of this anaesthetic machine, with particular reference to novel features and functioning in the intended environment. The Universal Anaesthesia Machine was found to be reliable, safe and consistent across a range of tests during targeted functional testing. © 2016 The Association of Anaesthetists of Great Britain and Ireland.

Neurohormonal Blockade in Heart Failure

PubMed Central

Kotecha, Dipak; Atar, Dan; Hopper, Ingrid

2017-01-01

A key feature of chronic heart failure (HF) is the sustained activation of endogenous neurohormonal systems in response to impaired cardiac pumping and/or filling properties. The clinical use of neurohormonal blockers has revolutionised the care of HF patients over the past three decades. Drug therapy that is active against imbalance in both the autonomic and renin–angiotensin–aldosterone systems consistently reduces morbidity and mortality in chronic HF with reduced left ventricular ejection fraction and in sinus rhythm. This article provides an assessment of the major neurohormonal systems and their therapeutic blockade in patients with chronic HF. PMID:28785471

Cancer-associated retinopathy with unusual retinal whitening.

PubMed

Lee, Joan J; Vrabec, Tamara R; Baldassano, Vincent F

2015-01-01

To describe the clinical characteristics and results of ocular and systemic testing in an atypical case of cancer-associated retinopathy. This study is a retrospective case report of a female patient. Rapidly progressive visual loss, vitritis, white, ring- and coin-shaped retinal lesions, and panretinal optical coherence tomography thinning preceded the diagnosis of poorly differentiated cervical carcinoma with neuroendocrine features consistent with small-cell carcinoma. Cancer-associated retinopathy can present with ring- and coin-shaped retinal lesions, vitritis, and panretinal thinning. The presence of intraocular inflammation and retinal and choroidal vasculopathy may herald more rapid visual demise.

Polycythemia and Thrombocytosis.

PubMed

Parnes, Aric; Ravi, Arvind

2016-12-01

Myeloproliferative neoplasms (MPNs) are diseases of excess cell proliferation from bone marrow precursors. Two classic MPNs, polycythemia vera (PV) and essential thrombocytosis (ET), are conditions of excess proliferation of red blood cells and platelets, respectively. Although PV and ET involve different cells in the myeloid lineage, their clinical presentations have shared features, consistent with overlapping mutations in growth factor signaling. The management of both diseases involves minimizing the risk of thrombotic and hemorrhagic complications. Both PV and ET can progress to myelofibrosis or acute myeloid leukemia, portending a poor prognosis. MPNs can also present as primary myelofibrosis. Copyright © 2016 Elsevier Inc. All rights reserved.

Impaired fatty acid oxidation in propofol infusion syndrome.

PubMed

Wolf, A; Weir, P; Segar, P; Stone, J; Shield, J

2001-02-24

Propofol infusion syndrome is a rare but frequently fatal complication in critically ill children given long-term propofol infusions. We describe a child who developed all the clinical features of propofol infusion syndrome and was treated successfully with haemofiltration. Biochemical analysis before haemofiltration showed a large rise in plasma concentrations of malonylcarnitine (3.3 micromol/L) and C5-acylcarnitine (8.4 micromol/L), which returned to normal after recovery. Abnormalities are consistent with specific disruption of fatty-acid oxidation caused by impaired entry of long-chain acylcarnitine esters into the mitochondria and failure of the mitochondrial respiratory chain at complex 11.

[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.

Facial nerve hemangiomas: vascular tumors or malformations?

PubMed

Benoit, Margo McKenna; North, Paula E; McKenna, Michael J; Mihm, Martin C; Johnson, Matthew M; Cunningham, Michael J

2010-01-01

To reclassify facial nerve hemangiomas in the context of presently accepted vascular lesion nomenclature by examining histology and immunohistochemical markers. Cohort analysis of patients diagnosed with a facial nerve hemangioma between 1990 and 2008. Collaborative analysis at a specialty hospital and a major academic hospital. Seven subjects were identified on composite review of office charts, a pathology database spanning both institutions, and an encrypted patient registry. Clinical data were compiled, and hematoxylin-eosin-stained specimens were reviewed. For six patients, archived pathological tissue was available for immunohistochemical evaluation of markers specific for infantile hemangioma (glucose transporter protein isoform 1 [GLUT1] and Lewis Y antigen) and for lymphatic endothelial cells (podoplanin). All patients clinically presented with slowly progressive facial weakness at a mean age of 45 years without prior symptomatology. Hemotoxylin-eosin-stained histopathological slides showed irregularly shaped, dilated lesional vessels with flattened endothelial cells, scant smooth muscle, and no internal elastic lamina. Both podoplanin staining for lymphatic endothelial cells and GLUT1 and LewisY antigen staining for infantile hemangioma endothelial cells were negative in lesional vessels in all specimens for which immunohistochemical analysis was performed. Lesions of the geniculate ganglion historically referred to as "hemangiomas" do not demonstrate clinical, histopathological, or immunohistochemical features consistent with a benign vascular tumor, but instead are consistent with venous malformation. We propose that these lesions be classified as "venous vascular malformations of the facial nerve." This nomenclature should more accurately predict clinical behavior and guide therapeutic interventions.

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

The pathogenesis of pseudoachalasia: a clinicopathologic study of 13 cases of a rare entity.

PubMed

Liu, Wendy; Fackler, William; Rice, Thomas W; Richter, Joel E; Achkar, Edgar; Goldblum, John R

2002-06-01

Pseudoachalasia is an esophageal motor disorder usually associated with malignancy that has clinical, radiographic, and manometric findings that are often indistinguishable from primary achalasia. There are few reports examining the histologic features of the associated neoplasms and their relationship with the esophageal myenteric plexus. We studied the clinical and pathologic features of 13 cases of pseudoachalasia seen at our institution between 1979 and 1999. Detailed clinical and radiographic data were obtained from medical records. In all cases available histologic material was reviewed to confirm the presence and type of associated neoplasm. When possible, the relationship of the neoplasm to the esophageal myenteric plexus was examined. In selected cases immunohistochemical stains were performed to further evaluate this relationship. All patients had clinical, radiographic, and manometric features similar to primary achalasia. The cohort included seven men and six women, age range 24-79 years (median 61 years). Associated neoplasms included esophageal adenocarcinoma arising in Barrett's esophagus (n = 1), adenocarcinoma of the esophagogastric junction (n = 7), metastatic renal cell carcinoma to the esophagogastric junction (n = 1), breast adenocarcinoma (n = 1), pulmonary small cell carcinoma (n = 1), pleural malignant mesothelioma (n = 1), and mediastinal fibrosis (n = 1). The mechanism of pseudoachalasia was consistent with neoplastic infiltration of the esophageal myenteric plexus in 11 cases. Neoplastic cells surrounded myenteric ganglion cells, which appeared normal in number and morphology. In the patient with pulmonary small cell carcinoma, there was no evidence of neoplastic infiltration of the esophagogastric junction, and anti-ANNA-1 antibody was detected, suggesting a paraneoplastic syndrome. Tissue obtained at the time of esophagomyotomy revealed lymphocytic myenteric inflammation and marked depletion of ganglion cells identical to that seen in primary achalasia. The mechanism pseudoachalasia in the patient with breast adenocarcinoma is uncertain, as there was no evidence of direct involvement of the esophagogastric junction. In summary, we describe 13 cases of pseudoachalasia resulting in a clinical syndrome indistinguishable from primary achalasia. The most common mechanism is direct involvement of the esophageal myenteric plexus by neoplastic cells. Rarely, a distant neoplasm may cause this syndrome as a paraneoplastic process.

Multivariate Protein Signatures of Pre-Clinical Alzheimer's Disease in the Alzheimer's Disease Neuroimaging Initiative (ADNI) Plasma Proteome Dataset

PubMed Central

Johnstone, Daniel; Milward, Elizabeth A.; Berretta, Regina; Moscato, Pablo

2012-01-01

Background Recent Alzheimer's disease (AD) research has focused on finding biomarkers to identify disease at the pre-clinical stage of mild cognitive impairment (MCI), allowing treatment to be initiated before irreversible damage occurs. Many studies have examined brain imaging or cerebrospinal fluid but there is also growing interest in blood biomarkers. The Alzheimer's Disease Neuroimaging Initiative (ADNI) has generated data on 190 plasma analytes in 566 individuals with MCI, AD or normal cognition. We conducted independent analyses of this dataset to identify plasma protein signatures predicting pre-clinical AD. Methods and Findings We focused on identifying signatures that discriminate cognitively normal controls (n = 54) from individuals with MCI who subsequently progress to AD (n = 163). Based on p value, apolipoprotein E (APOE) showed the strongest difference between these groups (p = 2.3×10−13). We applied a multivariate approach based on combinatorial optimization ((α,β)-k Feature Set Selection), which retains information about individual participants and maintains the context of interrelationships between different analytes, to identify the optimal set of analytes (signature) to discriminate these two groups. We identified 11-analyte signatures achieving values of sensitivity and specificity between 65% and 86% for both MCI and AD groups, depending on whether APOE was included and other factors. Classification accuracy was improved by considering “meta-features,” representing the difference in relative abundance of two analytes, with an 8-meta-feature signature consistently achieving sensitivity and specificity both over 85%. Generating signatures based on longitudinal rather than cross-sectional data further improved classification accuracy, returning sensitivities and specificities of approximately 90%. Conclusions Applying these novel analysis approaches to the powerful and well-characterized ADNI dataset has identified sets of plasma biomarkers for pre-clinical AD. While studies of independent test sets are required to validate the signatures, these analyses provide a starting point for developing a cost-effective and minimally invasive test capable of diagnosing AD in its pre-clinical stages. PMID:22485168

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.

Uterine Fibroid Embolization for Symptomatic Fibroids: Study at a Teaching Hospital in Kenya

PubMed Central

Mutai, John Kiprop; Vinayak, Sudhir; Stones, William; Hacking, Nigel; Mariara, Charles

2015-01-01

Objective: Characterization of magnetic (MRI) features in women undergoing uterine fibroid embolization (UFE) and identification of clinical correlates in an African population. Materials and Methods: Patients with symptomatic fibroids who are selected to undergo UFE at the hospital formed the study population. The baseline MRI features, baseline symptom score, short-term imaging outcome, and mid-term symptom scores were analyzed for interval changes. Assessment of potential associations between short-term imaging features and mid-term symptom scores was also done. Results: UFE resulted in statistically significant reduction (P < 0.001) of dominant fibroid, uterine volumes, and reduction of symptom severity scores, which were 43.7%, 40.1%, and 37.8%, respectively. Also, 59% of respondents had more than 10 fibroids. The predominant location of the dominant fibroid was intramural. No statistically significant association was found between clinical and radiological outcome. Conclusion: The response of uterine fibroids to embolization in the African population is not different from the findings reported in other studies from the west. The presence of multiple and large fibroids in this study is consistent with the case mix described in other studies of African-American populations. Patient counseling should emphasize the independence of volume reduction and symptom improvement. Though volume changes are of relevance for the radiologist in understanding the evolution of the condition and identifying potential technical treatment failures, it should not be the main basis of evaluation of treatment success. PMID:25883858

Melanoma recognition framework based on expert definition of ABCD for dermoscopic images.

PubMed

Abbas, Qaisar; Emre Celebi, M; Garcia, Irene Fondón; Ahmad, Waqar

2013-02-01

Melanoma Recognition based on clinical ABCD rule is widely used for clinical diagnosis of pigmented skin lesions in dermoscopy images. However, the current computer-aided diagnostic (CAD) systems for classification between malignant and nevus lesions using the ABCD criteria are imperfect due to use of ineffective computerized techniques. In this study, a novel melanoma recognition system (MRS) is presented by focusing more on extracting features from the lesions using ABCD criteria. The complete MRS system consists of the following six major steps: transformation to the CIEL*a*b* color space, preprocessing to enhance the tumor region, black-frame and hair artifacts removal, tumor-area segmentation, quantification of feature using ABCD criteria and normalization, and finally feature selection and classification. The MRS system for melanoma-nevus lesions is tested on a total of 120 dermoscopic images. To test the performance of the MRS diagnostic classifier, the area under the receiver operating characteristics curve (AUC) is utilized. The proposed classifier achieved a sensitivity of 88.2%, specificity of 91.3%, and AUC of 0.880. The experimental results show that the proposed MRS system can accurately distinguish between malignant and benign lesions. The MRS technique is fully automatic and can easily integrate to an existing CAD system. To increase the classification accuracy of MRS, the CASH pattern recognition technique, visual inspection of dermatologist, contextual information from the patients, and the histopathological tests can be included to investigate the impact with this system. © 2012 John Wiley & Sons A/S.

Trichotillomania Ranging from “Ritual to Illness” and as a Rare Clinical Manifestation of Frontotemporal Dementia: Review of Literature and Case Report

PubMed Central

Issac, Thomas Gregor; Telang, Ashay Vivek; Chandra, Sadanandavalli Retnaswami

2018-01-01

Frontotemporal dementia (FTD) is the most common form of dementia in the younger age group and often exists with comorbid obsessions and compulsions in up to 80% of the patients. Trichotillomania or compulsive “hair-pulling” disorder is a rare manifestation of FTD and is a poorly evaluated symptom in this condition. The release of “grooming functions” due to frontal disinhibition is often attributed to the evolutionary perspective; however, recent findings also implicate the role of neurotransmitter dysfunction. Trichotillomania is currently classified under obsessive and compulsive behavioral spectrum disorders and is often encountered in the younger population with research evidence of response to selective serotonin reuptake inhibitors (SSRIs), antipsychotics, and newer drugs such as N-acetyl cysteine. The role of behavioral therapy also has robust evidence in trichotillomania. We herewith report the case of a middle-aged male patient who presented with features of personality change and behavioral problems in terms of anger, agitation, and disinhibitory behavior who on detailed clinical evaluation and radiological assessment had features consistent with behavioral variant of FTD along with compulsive “hair plucking” behavior which responded minimally with SSRIs. FTD can have features of trichotillomania which is an often overlooked and relatively uncommon manifestation of dementias. Treatment options such as N-acetyl cysteine and behavioral therapy could have potential utility in this degenerative condition hitherto at an earlier stage. PMID:29769783

Automatic classification for mammogram backgrounds based on bi-rads complexity definition and on a multi content analysis framework

NASA Astrophysics Data System (ADS)

Wu, Jie; Besnehard, Quentin; Marchessoux, Cédric

2011-03-01

Clinical studies for the validation of new medical imaging devices require hundreds of images. An important step in creating and tuning the study protocol is the classification of images into "difficult" and "easy" cases. This consists of classifying the image based on features like the complexity of the background, the visibility of the disease (lesions). Therefore, an automatic medical background classification tool for mammograms would help for such clinical studies. This classification tool is based on a multi-content analysis framework (MCA) which was firstly developed to recognize image content of computer screen shots. With the implementation of new texture features and a defined breast density scale, the MCA framework is able to automatically classify digital mammograms with a satisfying accuracy. BI-RADS (Breast Imaging Reporting Data System) density scale is used for grouping the mammograms, which standardizes the mammography reporting terminology and assessment and recommendation categories. Selected features are input into a decision tree classification scheme in MCA framework, which is the so called "weak classifier" (any classifier with a global error rate below 50%). With the AdaBoost iteration algorithm, these "weak classifiers" are combined into a "strong classifier" (a classifier with a low global error rate) for classifying one category. The results of classification for one "strong classifier" show the good accuracy with the high true positive rates. For the four categories the results are: TP=90.38%, TN=67.88%, FP=32.12% and FN =9.62%.

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

PubMed

van der Crabben, Saskia N; Harakalova, Magdalena; Brilstra, Eva H; van Berkestijn, Frédérique M C; Hofstede, Floris C; van Vught, Adrianus J; Cuppen, Edwin; Kloosterman, Wigard; Ploos van Amstel, Hans Kristian; van Haaften, Gijs; van Haelst, Mieke M

2014-01-01

Phosphatidyl inositol glycan (PIG) enzyme subclasses are involved in distinct steps of glycosyl phosphatidyl inositol anchor protein biosynthesis. Glycolsyl phosphatidyl inositol-anchored proteins have heterogeneous functions; they can function as enzymes, adhesion molecules, complement regulators and co-receptors in signal transduction pathways. Germline mutations in genes encoding different members of the PIG family result in diverse conditions with (severe) developmental delay, (neonatal) seizures, hypotonia, CNS abnormalities, growth abnormalities, and congenital abnormalities as hallmark features. The variability of clinical features resembles the typical diversity of other glycosylation pathway deficiencies such as the congenital disorders of glycosylation. Here, we report the first germline missense mutation in the PIGA gene associated with accelerated linear growth, obesity, central hypotonia, severe refractory epilepsy, cardiac anomalies, mild facial dysmorphic features, mildly elevated alkaline phosphatase levels, and CNS anomalies consisting of progressive cerebral atrophy, insufficient myelinization, and cortical MRI signal abnormalities. X-exome sequencing in the proband identified a c.278C>T (p.Pro93Leu) mutation in the PIGA gene. The mother and maternal grandmother were unaffected carriers and the mother showed 100% skewing of the X-chromosome harboring the mutation. These results together with the clinical similarity of the patient reported here and the previously reported patients with a germline nonsense mutation in PIGA support the determination that this mutation caused the phenotype in this family. © 2013 Wiley Periodicals, Inc.

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.

[Socio-demographic, clinical and criminological features of a population discharged from forensic hospital and admitted to neuropsychiatric clinic, in scheme of restriction of freedom].

PubMed

Anastasia, Annalisa; Cataldo, Daniela; Colletti, Chiara; Di Falco, Rosanna; Centracchio, Irma; Del Nero, Paolo; Rinaldi, Raffaella; Bersani, Giuseppe

2014-01-01

Over the past twenty years, in Italy there has been an intense debate that has focused on the function, and overcoming the limits of the institution Judicial Psychiatric Hospital (ospedale psichiatrico giudiziario - OPG). Although the contribution of legislative proposals, conferences and workshops on the OPG subject has received significant, the interest focused on the development and elaboration of criminological and epidemiological research on a national scale has been proportionately less impetum. In this study a survey aimed to explore the socio-demographic, clinical and criminological features of patients discharged from the OPG and admitted to neuropsychiatric clinic, under the restriction of freedom, has been performed. The information was gathered at the time of entry in the clinical management, by means of the first clinical interview and during subsequent interviews. During hospitalization, patients were administered the Mini-Mental State Examination (MMSE) and K Axis (Axis V of Kennedy) questionaires. 23 patients from forensic hospitals of Aversa, Secondigliano and Castiglione delle Stiviere were included in the study. The main characteristics investigated delineate a profile of an individual with an average age of about 49 years, unmarried, from a low socio-economic context, unemployed at the time of internment. About the diagnosis, schizophrenic spectrum disorders prevail, there is history of substance abuse in 35% of cases, history of previous admission to psychiatric facilities in 87% of these subjects. The type of committed crimes regards crimes against the person. About 40% of individuals have exhausted the danger to society correlate at the time of admission. Despite the small sample size, the data from this study are consistent with those reported in few studies in the literature. The specificity of clinical care needs of mentally ill offenders requires greater definition that could be achieved through the development of this research area.

Unusual clinical manifestation of pheochromocytoma in a MEN2A patient.

PubMed

Guerrieri, M; Filipponi, S; Arnaldi, G; Giovagnetti, M; Lezoche, E; Mantero, F; Taccaliti, A

2002-01-01

A case of unusual clinical manifestation of pheochromocytoma in a type 2A multiple endocrine neoplasia (MEN2A) patient is presented. A 27-year-old man affected by MEN2A syndrome, complaining of anxiety and depression, was admitted in our Division. Past medical history included a total thyroidectomy for medullary carcinoma in 1985, and left adrenalectomy for pheochromocytoma in 1994. Blood pressure was 130/ 85 mmHg without orthostatic hypotension and pulse rate was 72 beats/min. Laboratory data revealed thyroid hormones and carcinoembryonic antigen (CEA) in the normal range and high basal serum calcitonin levels (158 pg/ml). Plasma catecholamines and vanillylmandelic acid resulted in normal levels but epinephrine/norepinephrine ratio was elevated (0.65). The glucagon stimulation test showed positive clinical and biochemical response. Magnetic resonance imaging (MRI) and meta-iodobenzylguanidine (MIBG) scintiscan confirmed the presence of bilateral adrenal masses. Bilateral adrenalectomy by laparoscopic anterior approach was performed. Histology was consistent with adrenal pheochromocytomas. After surgical approach, psychiatric findings disappeared and did not recur at follow-up in spite of no medication for two years. In conclusion, bilateral pheochromocytoma is more frequent in MEN2A syndrome and probably understimated if the follow-up is not prolonged. In these cases clinical features are often aspecific and basal hormonal data may be normal in a great number of patients. Therefore long-term observation is justified in these patients. Pheochromocytoma was described as the "great mimic" for the numerous subjective manifestations. Differential diagnosis among typical features of neuropsychiatric disorders and pheochromocytoma must be considered.

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

PubMed

Aref-Eshghi, Erfan; Rodenhiser, David I; Schenkel, Laila C; Lin, Hanxin; Skinner, Cindy; Ainsworth, Peter; Paré, Guillaume; Hood, Rebecca L; Bulman, Dennis E; Kernohan, Kristin D; Boycott, Kym M; Campeau, Philippe M; Schwartz, Charles; Sadikovic, Bekim

2018-01-04

Pediatric developmental syndromes present with systemic, complex, and often overlapping clinical features that are not infrequently a consequence of Mendelian inheritance of mutations in genes involved in DNA methylation, establishment of histone modifications, and chromatin remodeling (the "epigenetic machinery"). The mechanistic cross-talk between histone modification and DNA methylation suggests that these syndromes might be expected to display specific DNA methylation signatures that are a reflection of those primary errors associated with chromatin dysregulation. Given the interrelated functions of these chromatin regulatory proteins, we sought to identify DNA methylation epi-signatures that could provide syndrome-specific biomarkers to complement standard clinical diagnostics. In the present study, we examined peripheral blood samples from a large cohort of individuals encompassing 14 Mendelian disorders displaying mutations in the genes encoding proteins of the epigenetic machinery. We demonstrated that specific but partially overlapping DNA methylation signatures are associated with many of these conditions. The degree of overlap among these epi-signatures is minimal, further suggesting that, consistent with the initial event, the downstream changes are unique to every syndrome. In addition, by combining these epi-signatures, we have demonstrated that a machine learning tool can be built to concurrently screen for multiple syndromes with high sensitivity and specificity, and we highlight the utility of this tool in solving ambiguous case subjects presenting with variants of unknown significance, along with its ability to generate accurate predictions for subjects presenting with the overlapping clinical and molecular features associated with the disruption of the epigenetic machinery. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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.

Florid cemento-osseous dysplasia: review of an uncommon fibro-osseous lesion of the jaw with important clinical implications.

PubMed

Fenerty, Sarah; Shaw, Wei; Verma, Rahul; Syed, Ali B; Kuklani, Riya; Yang, Jie; Ali, Sayed

2017-05-01

Florid cemento-osseous dysplasia (FCOD) is a rare, benign, multifocal fibro-osseous dysplastic process affecting tooth-bearing areas of the jaw, characterized by replacement of normal trabecular bone with osseous tissue and dense acellular cementum in a fibrous stroma. It is one clinicopathologic variant in a spectrum of related non-neoplastic fibro-osseous lesions known as cemento-osseous dysplasias (CODs), thought to arise from elements of the periodontal ligament. Diagnosis primarily relies upon radiographic and clinical findings; unnecessary biopsy should be avoided, as inoculation with oral pathogens may precipitate chronic infection in these hypovascular lesions. Appropriate management of uncomplicated FCOD consists of periodic radiographic follow-up. Accordingly, it is important that both radiologists and clinicians performing endodontic interventions possess familiarity with this entity in order to prevent misdiagnosis and inappropriate intervention, which may result in a protracted clinical course. Lesions are usually asymptomatic in the absence of infection, typically discovered on routine dental radiographs or imaging performed for unrelated indications. Radiographically, the condition typically manifests as widespread non-expansile intraosseous masses of varying internal lucency and sclerosis that surround the root apices of vital teeth or edentulous areas in the posterior jaw. While all CODs share similar microscopic features, FCOD is distinguished by its multifocal distribution, involving two or more quadrants of the maxilla and mandible, often in a bilateral symmetric fashion. The vast majority of cases are sporadic, though few exhibit an autosomal dominant familial inheritance pattern. In this pictorial review, we discuss the radiologic characteristics of this entity, pertinent clinical and histologic features, differential diagnoses, and management options.

Automating annotation of information-giving for analysis of clinical conversation.

PubMed

Mayfield, Elijah; Laws, M Barton; Wilson, Ira B; Penstein Rosé, Carolyn

2014-02-01

Coding of clinical communication for fine-grained features such as speech acts has produced a substantial literature. However, annotation by humans is laborious and expensive, limiting application of these methods. We aimed to show that through machine learning, computers could code certain categories of speech acts with sufficient reliability to make useful distinctions among clinical encounters. The data were transcripts of 415 routine outpatient visits of HIV patients which had previously been coded for speech acts using the Generalized Medical Interaction Analysis System (GMIAS); 50 had also been coded for larger scale features using the Comprehensive Analysis of the Structure of Encounters System (CASES). We aggregated selected speech acts into information-giving and requesting, then trained the machine to automatically annotate using logistic regression classification. We evaluated reliability by per-speech act accuracy. We used multiple regression to predict patient reports of communication quality from post-visit surveys using the patient and provider information-giving to information-requesting ratio (briefly, information-giving ratio) and patient gender. Automated coding produces moderate reliability with human coding (accuracy 71.2%, κ=0.57), with high correlation between machine and human prediction of the information-giving ratio (r=0.96). The regression significantly predicted four of five patient-reported measures of communication quality (r=0.263-0.344). The information-giving ratio is a useful and intuitive measure for predicting patient perception of provider-patient communication quality. These predictions can be made with automated annotation, which is a practical option for studying large collections of clinical encounters with objectivity, consistency, and low cost, providing greater opportunity for training and reflection for care providers.

Vitiligo-like lesions occurring in patients receiving anti-programmed cell death-1 therapies are clinically and biologically distinct from vitiligo.

PubMed

Larsabal, Maiana; Marti, Aurélie; Jacquemin, Clément; Rambert, Jérôme; Thiolat, Denis; Dousset, Léa; Taieb, Alain; Dutriaux, Caroline; Prey, Sorilla; Boniface, Katia; Seneschal, Julien

2017-05-01

The use of anti-programmed cell death (PD)-1 therapies in metastatic tumors is associated with cutaneous side effects including vitiligo-like lesions. We sought to characterize clinically and biologically vitiligo-like lesions occurring in patients receiving anti-PD-1 therapies by studying a case series of 8 patients with metastatic tumors and 30 control subjects with vitiligo. Eight patients receiving anti-PD-1 therapies with features of vitiligo-like lesions seen in our department were recruited. Clinical features and photographs were analyzed. For some patients, skin and blood samples were obtained. Results were compared with the vitiligo group. All patients developed lesions localized on photoexposed areas with a specific depigmentation pattern consisting of multiple flecked lesions without Koebner phenomenon. In contrast to vitiligo, patients receiving anti-PD-1 therapies who developed vitiligo-like lesions did not report any personal or family histories of vitiligo, thyroiditis, or other autoimmune disorders. Analysis of blood and skin samples revealed increased C-X-C motif ligand 10 levels in serum of patients developing vitiligo-like lesions, associated with skin infiltration of CD8 T-cells expressing C-X-C motif receptor 3 and producing elevated levels of interferon-γ and tumor necrosis factor-alfa. This cross-sectional study concerned a single center. Clinical and biological patterns of vitiligo-like lesions occurring in patients receiving anti-PD-1 therapies differ from vitiligo, suggesting a different mechanism. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

Clinical features and risk factors for post-partum depression in a large cohort of Chinese women with recurrent major depressive disorder.

PubMed

Tian, Tian; Li, Yihan; Xie, Dong; Shen, Yifeng; Ren, Jianer; Wu, Wenyuan; Guan, Chengbin; Zhang, Zhen; Zhang, Danning; Gao, Chengge; Zhang, Xiaoming; Wu, Jinbo; Deng, Hong; Wang, Gang; Zhang, Yunshu; Shao, Yun; Rong, Han; Gan, Zhaoyu; Sun, Yan; Hu, Bin; Pan, Jiyang; Li, Yi; Sun, Shufan; Song, Libo; Fan, Xuesheng; Li, Yi; Zhao, Xiaochuan; Yang, Bin; Lv, Luxian; Chen, Yunchun; Wang, Xiaoli; Ning, Yuping; Shi, Shenxun; Chen, Yiping; Kendler, Kenneth S; Flint, Jonathan; Tian, Hongjun

2012-02-01

Post partum depression (PPD) is relatively common in China but its clinical characteristics and risk factors have not been studied. We set out to investigate whether known risk factors for PPD could be found in Chinese women. A case control design was used to determine the impact of known risk factors for PPD in a cohort of 1970 Chinese women with recurrent DSM-IV major depressive disorder (MDD). In a within-case design we examined the risk factors for PPD in patients with recurrent MDD. We compared the clinical features of MDD in cases with PPD to those without MDD. Odds ratios were calculated using logistic and ordinal regression. Lower occupational and educational statuses increased the risk of PPD, as did a history of pre-menstrual symptoms, stressful life events and elevated levels of the personality trait of neuroticism. Patients with PPD and MDD were more likely to experience a comorbid anxiety disorder, had a younger age of onset of MDD, have higher levels of neuroticism and dysthymia. Results obtained in this clinical sample may not be applicable to PPD within the community. Data were obtained retrospectively and we do not know whether the correlations we observe have the same causes as those operating in other populations. Our results are consistent with the hypothesis that the despite cultural differences between Chinese and Western women, the phenomenology and risk factors for PPD are very similar. Copyright © 2011 Elsevier B.V. All rights reserved.

Recommendations for the Design and Analysis of Treatment Trials for Alcohol Use Disorders.

PubMed

Witkiewitz, Katie; Finney, John W; Harris, Alex H S; Kivlahan, Daniel R; Kranzler, Henry R

2015-09-01

Over the past 60 years, the view that "alcoholism" is a disease for which the only acceptable goal of treatment is abstinence has given way to the recognition that alcohol use disorders (AUDs) occur on a continuum of severity, for which a variety of treatment options are appropriate. However, because the available treatments for AUDs are not effective for everyone, more research is needed to develop novel and more efficacious treatments to address the range of AUD severity in diverse populations. Here we offer recommendations for the design and analysis of alcohol treatment trials, with a specific focus on the careful conduct of randomized clinical trials of medications and nonpharmacological interventions for AUDs. This paper provides a narrative review of the quality of published clinical trials and recommendations for the optimal design and analysis of treatment trials for AUDs. Despite considerable improvements in the design of alcohol clinical trials over the past 2 decades, many studies of AUD treatments have used faulty design features and statistical methods that are known to produce biased estimates of treatment efficacy. The published statistical and methodological literatures provide clear guidance on methods to improve clinical trial design and analysis. Consistent use of state-of-the-art design features and analytic approaches will enhance the internal and external validity of treatment trials for AUDs across the spectrum of severity. The ultimate result of this attention to methodological rigor is that better treatment options will be identified for patients with an AUD. Copyright © 2015 by the Research Society on Alcoholism.

Clinical feasibility of using mean apparent propagator (MAP) MRI to characterize brain tissue microstructure.

PubMed

Avram, Alexandru V; Sarlls, Joelle E; Barnett, Alan S; Özarslan, Evren; Thomas, Cibu; Irfanoglu, M Okan; Hutchinson, Elizabeth; Pierpaoli, Carlo; Basser, Peter J

2016-02-15

Diffusion tensor imaging (DTI) is the most widely used method for characterizing noninvasively structural and architectural features of brain tissues. However, the assumption of a Gaussian spin displacement distribution intrinsic to DTI weakens its ability to describe intricate tissue microanatomy. Consequently, the biological interpretation of microstructural parameters, such as fractional anisotropy or mean diffusivity, is often equivocal. We evaluate the clinical feasibility of assessing brain tissue microstructure with mean apparent propagator (MAP) MRI, a powerful analytical framework that efficiently measures the probability density function (PDF) of spin displacements and quantifies useful metrics of this PDF indicative of diffusion in complex microstructure (e.g., restrictions, multiple compartments). Rotation invariant and scalar parameters computed from the MAP show consistent variation across neuroanatomical brain regions and increased ability to differentiate tissues with distinct structural and architectural features compared with DTI-derived parameters. The return-to-origin probability (RTOP) appears to reflect cellularity and restrictions better than MD, while the non-Gaussianity (NG) measures diffusion heterogeneity by comprehensively quantifying the deviation between the spin displacement PDF and its Gaussian approximation. Both RTOP and NG can be decomposed in the local anatomical frame for reference determined by the orientation of the diffusion tensor and reveal additional information complementary to DTI. The propagator anisotropy (PA) shows high tissue contrast even in deep brain nuclei and cortical gray matter and is more uniform in white matter than the FA, which drops significantly in regions containing crossing fibers. Orientational profiles of the propagator computed analytically from the MAP MRI series coefficients allow separation of different fiber populations in regions of crossing white matter pathways, which in turn improves our ability to perform whole-brain fiber tractography. Reconstructions from subsampled data sets suggest that MAP MRI parameters can be computed from a relatively small number of DWIs acquired with high b-value and good signal-to-noise ratio in clinically achievable scan durations of less than 10min. The neuroanatomical consistency across healthy subjects and reproducibility in test-retest experiments of MAP MRI microstructural parameters further substantiate the robustness and clinical feasibility of this technique. The MAP MRI metrics could potentially provide more sensitive clinical biomarkers with increased pathophysiological specificity compared to microstructural measures derived using conventional diffusion MRI techniques. Published by Elsevier Inc.

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.

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.

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.

Colonic or ileocecocolic volvulus in 13 dogs (2005-2016).

PubMed

Plavec, Tanja; Rupp, Stefan; Kessler, Martin

2017-08-01

To describe the clinical and clinicopathological features of colonic or ileocecocolic volvulus (CV/ICV) in dogs. Retrospective case series. Thirteen dogs with surgically confirmed CV/ICV. Medical records were reviewed for signalment, medical history, clinical signs, laboratory data, radiographic findings, treatment, and outcome. All cases consisted of large-breed dogs (median weight 37.1 kg, range, 22.7-58.5 kg), 8 of these male (6 intact). The most common clinical signs included vomiting, depression, inappetence, and diarrhea with or without tenesmus. All cases presented in shock with abdominal distension, abdominal pain, or both. Dogs were treated for shock and operated immediately after a presumptive diagnosis was based on clinical and radiographic examinations. Three dogs were euthanatized during surgery, 10 dogs were discharged live from the hospital, 9 of these were alive at follow-up 6 to 70 months (median 24 months) after surgery. CV and ICV are rare disorders that seem to carry a better prognosis than mesenteric volvulus. Immediate laparotomy is recommended in suspected cases and the prognosis is fair. © 2017 The American College of Veterinary Surgeons.

Patient registries: useful tools for clinical research in myasthenia gravis.

PubMed

Baggi, Fulvio; Mantegazza, Renato; Antozzi, Carlo; Sanders, Donald

2012-12-01

Clinical registries may facilitate research on myasthenia gravis (MG) in several ways: as a source of demographic, clinical, biological, and immunological data on large numbers of patients with this rare disease; as a source of referrals for clinical trials; and by allowing rapid identification of MG patients with specific features. Physician-derived registries have the added advantage of incorporating diagnostic and treatment data that may allow comparison of outcomes from different therapeutic approaches, which can be supplemented with patient self-reported data. We report the demographic analysis of MG patients in two large physician-derived registries, the Duke MG Patient Registry, at the Duke University Medical Center, and the INNCB MG Registry, at the Istituto Neurologico Carlo Besta, as a preliminary study to assess the consistency of the two data sets. These registries share a common structure, with an inner core of common data elements (CDE) that facilitate data analysis. The CDEs are concordant with the MG-specific CDEs developed under the National Institute of Neurological Disorders and Stroke Common Data Elements Project. © 2012 New York Academy of Sciences.

RS3PE syndrome: a clinical and immunogenetical study.

PubMed

Queiro, Rubén

2004-03-01

This study analyses the clinical, radiological, evolutive, and immunogenetical characteristics of a series of patients diagnosed with remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome. Reviewed were the clinical charts and human leukocyte antigen (HLA) profiles of all patients treated at a single teaching hospital fulfilling the features of this syndrome according to the definition of McCarty. Twelve cases were detected in ten men and two women aged from 62 to 85 years. Rheumatoid factor was negative in all cases, and antinuclear antibodies (ANA) were positive in two. All patients achieved complete resolution of their condition within 1 year with glucocorticoid (GC) use. Two relapsed after remission but responded again to low doses of GC. Four patients showed clinical and electrodiagnostic studies consistent with carpal tunnel syndrome. No specific HLA association could be found in this report. To date, none of these patients has developed definite rheumatic diseases, infections, or malignant diseases. Although the real nature of the syndrome is still a matter of debate, at least in our context, RS3PE remains a definite condition with an excellent prognosis.

Clinical supervision in the emergency department: a critical incident study

PubMed Central

Kilroy, D A

2006-01-01

Objectives To identify the key features of effective clinical supervision in the emergency department (ED) from the perspectives of enthusiastic consultants and specialist registrars. To highlight the importance of clinical supervision within emergency medicine, and identify obstructions to its occurrence in everyday practice. Methods A critical incident study was undertaken consisting of structured interviews, conducted by telephone or in person, with 18 consultants and higher level trainees selected for their interest in supervision. Results Direct clinical supervision of key practical skills and patient management steps was considered to be of paramount importance in providing quality patient care and significantly enhancing professional confidence. The adequacy of supervision varied depending upon patient presentation. Trainees were concerned with the competence and skills of their supervisor; consultants were concerned with wider systemic constraints upon the provision of adequate supervision to juniors. Conclusions The value of supervision extends to all patient presentations in the ED. The study raised questions concerning the appropriate attitudes and qualifications for supervisors. Protected supervisory time for those with trainees is mandatory, and must be incorporated within ED consultant job planning. PMID:16439737

Glomeruloid hemangioma and POEMS syndrome.

PubMed

Hernández Aragüés, I; Pulido Pérez, A; Ciudad Blanco, C; Parra Blanco, V; Suárez Fernández, R

2017-03-01

POEMS syndrome is a paraneoplastic manifestation associated with hematopoietic disorders such as multiple myeloma and Castleman disease. POEMS is an acronym for the main clinical features of the syndrome, namely, Polyneuropathy, Organomegaly, Endocrinopathy, M protein, and Skin abnormalities. Glomeruloid hemangiomas are considered to be a specific clinical marker of POEMS syndrome. However, while they are not pathognomonic, their presence should raise suspicion of this syndrome or alert clinicians to its possible future development, as these lesions can appear years before the onset of the syndrome. We report the cases of 2 women with plasma cell dyscrasias and sudden onset of lesions with a vascular appearance and histologic findings consistent with glomeruloid hemangioma. Recognition of this vascular tumor is important for the early diagnosis of POEMS syndrome. Copyright © 2016 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

Migraine with Aura or Sports-Related Concussion: Case Report, Pathophysiology, and Multidisciplinary Approach to Management.

PubMed

Ellis, Michael J; Cordingley, Dean; Girardin, Richard; Ritchie, Lesley; Johnston, Janine

The evaluation and management of athletes presenting with clinical features of migraine headache with aura in the setting of sports-related head trauma is challenging. We present a case report of a 15-yr-old boy with a history of migraine with visual aura that developed acute visual disturbance and headache after a head injury during an ice hockey game. The patient underwent comprehensive assessment at a multidisciplinary concussion program, including neuro-ophthalmological examination, neurocognitive testing, and graded aerobic treadmill testing. Clinical history and multidisciplinary assessment was consistent with the diagnosis of coexisting sports-related concussion and migraine with brainstem aura. The authors discuss the pearls and pitfalls of managing patients who develop migraine headache with visual aura after sports-related head injury and the value of a comprehensive multidisciplinary approach to this unique patient population.

Chronic anger as a precursor to adult antisocial personality features: The moderating influence of cognitive control.

PubMed

Hawes, Samuel W; Perlman, Susan B; Byrd, Amy L; Raine, Adrian; Loeber, Rolf; Pardini, Dustin A

2016-01-01

Anger is among the earliest occurring symptoms of mental health, yet we know little about its developmental course. Further, no studies have examined whether youth with persistent anger are at an increased risk of exhibiting antisocial personality features in adulthood, or how cognitive control abilities may protect these individuals from developing such maladaptive outcomes. Trajectories of anger were delineated among 503 boys using annual assessments from childhood to middle adolescence (ages ∼7-14). Associations between these trajectories and features of antisocial personality in young adulthood (age ∼28) were examined, including whether cognitive control moderates this association. Five trajectories of anger were identified (i.e., childhood-onset, childhood-limited, adolescent-onset, moderate, and low). Boys in the childhood-onset group exhibited the highest adulthood antisocial personality features (e.g., psychopathy, aggression, criminal charges). However, boys in this group were buffered from these problems if they had higher levels of cognitive control during adolescence. Findings were consistent across measures from multiple informants, replicated across distinct time periods, and remained when controlling for general intelligence and prior antisocial behavior. This is the first study to document the considerable heterogeneity in the developmental course of anger from childhood to adolescence. As hypothesized, good cognitive control abilities protected youth with persistent anger problems from developing antisocial personality features in adulthood. Clinical implications and future directions are discussed. (c) 2016 APA, all rights reserved.

Chronic Anger as a Precursor to Adult Antisocial Personality Features: The Moderating Influence of Cognitive Control

PubMed Central

Hawes, Samuel W.; Perlman, Susan B.; Byrd, Amy L.; Raine, Adrian; Loeber, Rolf; Pardini, Dustin A.

2015-01-01

Anger is among the earliest occurring symptoms of mental health, yet we know little about its developmental course. Further, no studies have examined whether youth with persistent anger are at an increased risk of exhibiting antisocial personality features in adulthood, or how cognitive control abilities may protect these individuals from developing such maladaptive outcomes. Method Trajectories of anger were delineated among 503 boys using annual assessments from childhood to middle adolescence (~ages 7–14). Associations between these trajectories and features of antisocial personality in young adulthood (~age 28) were examined, including whether cognitive control moderates this association. Results Five trajectories of anger were identified (i.e., Childhood-Onset, Childhood-Limited, Adolescent-Onset, Moderate, and Low). Boys in the Childhood-Onset group exhibited the highest adulthood antisocial personality features (e.g., psychopathy, aggression, criminal charges). However, boys in this group were buffered from these problems if they had higher levels of cognitive control during adolescence. Findings were consistent across measures from multiple informants, replicated across distinct time periods, and remained when controlling for general intelligence and prior antisocial behavior. Conclusions This is the first study to document the considerable heterogeneity in the developmental course of anger from childhood to adolescence. As hypothesized, good cognitive control abilities protected youth with persistent anger problems from developing antisocial personality features in adulthood. Clinical implications and future directions are discussed. PMID:26618654

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

PubMed Central

Hirst, Jennifer; Madeo, Marianna; Smets, Katrien; Edgar, James R.; Schols, Ludger; Li, Jun; Yarrow, Anna; Deconinck, Tine; Baets, Jonathan; Van Aken, Elisabeth; De Bleecker, Jan; Datiles, Manuel B.; Roda, Ricardo H.; Liepert, Joachim; Züchner, Stephan; Mariotti, Caterina; De Jonghe, Peter; Blackstone, Craig

2016-01-01

Objective: Biallelic mutations in the AP5Z1 gene encoding the AP-5 ζ subunit have been described in a small number of patients with hereditary spastic paraplegia (HSP) (SPG48); we sought to define genotype–phenotype correlations in patients with homozygous or compound heterozygous sequence variants predicted to be deleterious. Methods: We performed clinical, radiologic, and pathologic studies in 6 patients with biallelic mutations in AP5Z1. Results: In 4 of the 6 patients, there was complete loss of AP-5 ζ protein. Clinical features encompassed not only prominent spastic paraparesis but also sensory and motor neuropathy, ataxia, dystonia, myoclonus, and parkinsonism. Skin fibroblasts from affected patients tested positive for periodic acid Schiff and autofluorescent storage material, while electron microscopic analysis demonstrated lamellar storage material consistent with abnormal storage of lysosomal material. Conclusions: Our findings expand the spectrum of AP5Z1-associated neurodegenerative disorders and point to clinical and pathophysiologic overlap between autosomal recessive forms of HSP and lysosomal storage disorders. PMID:27606357

Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall.

PubMed

Alauddin, Hafiza; Mohamad Nasir, Suziana; Ahadon, Madzlifah; Raja Sabudin, Raja Zahratul Azma; Ithnin, Azlin; Hussin, Noor Hamidah; Alias, Hamidah; Loh, C-Khai; Abdul Latiff, Zarina; Abdul Murad, Nor Azian; Othman, Ainoon

2015-12-01

Haemoglobin (Hb) Lepore is a variant Hb consisting of two α-globin and two δβ-globin chains. In a heterozygote, it is associated with clinical findings of thalassaemia minor, but interactions with other haemoglobinopathies can lead to various clinical phenotypes and pose diagnostic challenges. We reported a pair of siblings from a Malay family, who presented with pallor and hepatosplenomegaly at the ages of 21 months and 14 months old. The red cell indices and peripheral blood smears of both patients showed features of thalassaemia intermedia. Other laboratory investigations of the patients showed conflicting results. However, laboratory investigation results of the parents had led to a presumptive diagnosis of compound heterozygote Hb Lepore/β-thalassaemia and co-inheritance α+-thalassaemia (-α3.7). Hb Lepore has rarely been detected in Southeast Asian countries, particularly in Malaysia. These two cases highlight the importance of family studies for accurate diagnosis, hence appropriate clinical management and genetic counseling.

Does NDPH exist? Some clinical considerations.

PubMed

Manzoni, G C; Torelli, P

2011-05-01

The analysis of case series of new daily persistent headache (NDPH) reported so far in the literature and the clinical evaluation of affected patients seen at headache clinics suggest that the current International Classification of Headache Disorders (ICHD-II) diagnostic criteria for NDPH are not adequate. In particular, in several instances headache features are not consistent with those of tension-type headache, as the ICHD-II expects. Before making a diagnosis of primary NDPH, it is imperative to rule out that it may be due to any underlying systemic disease. Just as importantly, the presence of psychiatric comorbidity and the possible role played by stressful life factors in triggering NDPH onset should also be searched for. Probably, it will only be through some future improvement in the classification of headache attributed to psychiatric disorder (chapter 12 of the ICHD-II) on the one hand, and through a careful psychological evaluation of patients currently diagnosed as NDPH sufferers on the other, that we will finally know whether primary NDPH actually exists.

Kinematic and Pressure Features of Handwriting and Drawing: Preliminary Results Between Patients with Mild Cognitive Impairment, Alzheimer Disease and Healthy Controls

PubMed Central

Garre-Olmo, Josep; Faúndez-Zanuy, Marcos; López-de-Ipiña, Karmele; Calvó-Perxas, Laia; Turró-Garriga, Oriol

2017-01-01

Background: Alzheimer’s disease (AD) is the most common neurodegenerative dementia of old age, and the leading chronic disease contributor to disability and dependence among older people worldwide. Clinically, AD is characterized by a progressive cognitive decline that interferes with the abil-ity to perform the activities of daily living. Handwriting and drawing are complex human activities that entail an intricate blend of cognitive, kinesthetic, and perceptual-motor features. Objective: To compare the kinematic characteristics of handwriting and drawing between patients with AD, patients with mild cognitive impairment (MCI) and healthy controls. Methods: We used a cross-sectional and observational design to assess the kinematic and pressure fea-tures of handwriting and drawing using a computerized system. Participants were asked to copy one sen-tence, write a dictated sentence and an own sentence, copy two and-three dimensions drawings, and to execute the clock drawing test. By means of discriminant analyses, we explored the value of several kin-ematic features in order to classify participants depending on their degree of cognitive functioning. Results: The sample consisted of 52 participants (23 AD, 12 MCI, and 17 healthy controls) with a mean age of 69.7 years (SD=8.11). The degree of correct classification was largely dependent on the nature of the groups to be classified and the specific task, and ranged between 63.5% and 100%. Diagnostic accu-racy based on kinematic measures showed higher specificity values for distinguishing between normal and impaired cognition (MCI and AD), and higher sensitivity was obtained when distinguishing between impaired cognition levels (MCI vs. AD). Conclusion: The kinematic features of writing and drawing procedures, rather than the final product, may be a useful and objective complement to the clinical assessment of patients with cognitive impairment. PMID:28290244

Kinematic and Pressure Features of Handwriting and Drawing: Preliminary Results Between Patients with Mild Cognitive Impairment, Alzheimer Disease and Healthy Controls.

PubMed

Garre-Olmo, Josep; Faúndez-Zanuy, Marcos; López-de-Ipiña, Karmele; Calvó-Perxas, Laia; Turró-Garriga, Oriol

2017-01-01

Alzheimer's disease (AD) is the most common neurodegenerative dementia of old age, and the leading chronic disease contributor to disability and dependence among older people worldwide. Clinically, AD is characterized by a progressive cognitive decline that interferes with the ability to perform the activities of daily living. Handwriting and drawing are complex human activities that entail an intricate blend of cognitive, kinesthetic, and perceptual-motor features. To compare the kinematic characteristics of handwriting and drawing between patients with AD, patients with mild cognitive impairment (MCI) and healthy controls. We used a cross-sectional and observational design to assess the kinematic and pressure features of handwriting and drawing using a computerized system. Participants were asked to copy one sentence, write a dictated sentence and an own sentence, copy two and-three dimensions drawings, and to execute the clock drawing test. By means of discriminant analyses, we explored the value of several kinematic features in order to classify participants depending on their degree of cognitive functioning. The sample consisted of 52 participants (23 AD, 12 MCI, and 17 healthy controls) with a mean age of 69.7 years (SD=8.11). The degree of correct classification was largely dependent on the nature of the groups to be classified and the specific task, and ranged between 63.5% and 100%. Diagnostic accuracy based on kinematic measures showed higher specificity values for distinguishing between normal and impaired cognition (MCI and AD), and higher sensitivity was obtained when distinguishing between impaired cognition levels (MCI vs. AD). The kinematic features of writing and drawing procedures, rather than the final product, may be a useful and objective complement to the clinical assessment of patients with cognitive impairment. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

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.

A Comparison of Supervised Machine Learning Algorithms and Feature Vectors for MS Lesion Segmentation Using Multimodal Structural MRI

PubMed Central

Sweeney, Elizabeth M.; Vogelstein, Joshua T.; Cuzzocreo, Jennifer L.; Calabresi, Peter A.; Reich, Daniel S.; Crainiceanu, Ciprian M.; Shinohara, Russell T.

2014-01-01

Machine learning is a popular method for mining and analyzing large collections of medical data. We focus on a particular problem from medical research, supervised multiple sclerosis (MS) lesion segmentation in structural magnetic resonance imaging (MRI). We examine the extent to which the choice of machine learning or classification algorithm and feature extraction function impacts the performance of lesion segmentation methods. As quantitative measures derived from structural MRI are important clinical tools for research into the pathophysiology and natural history of MS, the development of automated lesion segmentation methods is an active research field. Yet, little is known about what drives performance of these methods. We evaluate the performance of automated MS lesion segmentation methods, which consist of a supervised classification algorithm composed with a feature extraction function. These feature extraction functions act on the observed T1-weighted (T1-w), T2-weighted (T2-w) and fluid-attenuated inversion recovery (FLAIR) MRI voxel intensities. Each MRI study has a manual lesion segmentation that we use to train and validate the supervised classification algorithms. Our main finding is that the differences in predictive performance are due more to differences in the feature vectors, rather than the machine learning or classification algorithms. Features that incorporate information from neighboring voxels in the brain were found to increase performance substantially. For lesion segmentation, we conclude that it is better to use simple, interpretable, and fast algorithms, such as logistic regression, linear discriminant analysis, and quadratic discriminant analysis, and to develop the features to improve performance. PMID:24781953

A comparison of supervised machine learning algorithms and feature vectors for MS lesion segmentation using multimodal structural MRI.

PubMed

Sweeney, Elizabeth M; Vogelstein, Joshua T; Cuzzocreo, Jennifer L; Calabresi, Peter A; Reich, Daniel S; Crainiceanu, Ciprian M; Shinohara, Russell T

2014-01-01

Machine learning is a popular method for mining and analyzing large collections of medical data. We focus on a particular problem from medical research, supervised multiple sclerosis (MS) lesion segmentation in structural magnetic resonance imaging (MRI). We examine the extent to which the choice of machine learning or classification algorithm and feature extraction function impacts the performance of lesion segmentation methods. As quantitative measures derived from structural MRI are important clinical tools for research into the pathophysiology and natural history of MS, the development of automated lesion segmentation methods is an active research field. Yet, little is known about what drives performance of these methods. We evaluate the performance of automated MS lesion segmentation methods, which consist of a supervised classification algorithm composed with a feature extraction function. These feature extraction functions act on the observed T1-weighted (T1-w), T2-weighted (T2-w) and fluid-attenuated inversion recovery (FLAIR) MRI voxel intensities. Each MRI study has a manual lesion segmentation that we use to train and validate the supervised classification algorithms. Our main finding is that the differences in predictive performance are due more to differences in the feature vectors, rather than the machine learning or classification algorithms. Features that incorporate information from neighboring voxels in the brain were found to increase performance substantially. For lesion segmentation, we conclude that it is better to use simple, interpretable, and fast algorithms, such as logistic regression, linear discriminant analysis, and quadratic discriminant analysis, and to develop the features to improve performance.

Shapes and features of the primordial bispectrum

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

Gong, Jinn-Ouk; Palma, Gonzalo A.; Sypsas, Spyros, E-mail: jinn-ouk.gong@apctp.org, E-mail: gpalmaquilod@ing.uchile.cl, E-mail: s.sypsas@gmail.com

If time-dependent disruptions from slow-roll occur during inflation, the correlation functions of the primordial curvature perturbation should have scale-dependent features, a case which is marginally supported from the cosmic microwave background (CMB) data. We offer a new approach to analyze the appearance of such features in the primordial bispectrum that yields new consistency relations and justifies the search of oscillating patterns modulated by orthogonal and local templates. Under the assumption of sharp features, we find that the cubic couplings of the curvature perturbation can be expressed in terms of the bispectrum in two specific momentum configurations, for example local andmore » equilateral. This allows us to derive consistency relations among different bispectrum shapes, which in principle could be tested in future CMB surveys. Furthermore, based on the form of the consistency relations, we construct new two-parameter templates for features that include all the known shapes.« less

Automated classification of maxillofacial cysts in cone beam CT images using contourlet transformation and Spherical Harmonics.

PubMed

Abdolali, Fatemeh; Zoroofi, Reza Aghaeizadeh; Otake, Yoshito; Sato, Yoshinobu

2017-02-01

Accurate detection of maxillofacial cysts is an essential step for diagnosis, monitoring and planning therapeutic intervention. Cysts can be of various sizes and shapes and existing detection methods lead to poor results. Customizing automatic detection systems to gain sufficient accuracy in clinical practice is highly challenging. For this purpose, integrating the engineering knowledge in efficient feature extraction is essential. This paper presents a novel framework for maxillofacial cysts detection. A hybrid methodology based on surface and texture information is introduced. The proposed approach consists of three main steps as follows: At first, each cystic lesion is segmented with high accuracy. Then, in the second and third steps, feature extraction and classification are performed. Contourlet and SPHARM coefficients are utilized as texture and shape features which are fed into the classifier. Two different classifiers are used in this study, i.e. support vector machine and sparse discriminant analysis. Generally SPHARM coefficients are estimated by the iterative residual fitting (IRF) algorithm which is based on stepwise regression method. In order to improve the accuracy of IRF estimation, a method based on extra orthogonalization is employed to reduce linear dependency. We have utilized a ground-truth dataset consisting of cone beam CT images of 96 patients, belonging to three maxillofacial cyst categories: radicular cyst, dentigerous cyst and keratocystic odontogenic tumor. Using orthogonalized SPHARM, residual sum of squares is decreased which leads to a more accurate estimation. Analysis of the results based on statistical measures such as specificity, sensitivity, positive predictive value and negative predictive value is reported. The classification rate of 96.48% is achieved using sparse discriminant analysis and orthogonalized SPHARM features. Classification accuracy at least improved by 8.94% with respect to conventional features. This study demonstrated that our proposed methodology can improve the computer assisted diagnosis (CAD) performance by incorporating more discriminative features. Using orthogonalized SPHARM is promising in computerized cyst detection and may have a significant impact in future CAD systems. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Development and initial evaluation of an instrument to assess physiotherapists' clinical reasoning focused on clients' behavior change.

PubMed

Elvén, Maria; Hochwälder, Jacek; Dean, Elizabeth; Söderlund, Anne

2018-05-01

A systematically developed and evaluated instrument is needed to support investigations of physiotherapists' clinical reasoning integrated with the process of clients' behavior change. This study's aim was to develop an instrument to assess physiotherapy students' and physiotherapists' clinical reasoning focused on clients' activity-related behavior and behavior change, and initiate its evaluation, including feasibility and content validity. The study was conducted in three phases: 1) determination of instrument structure and item generation, based on a model, guidelines for assessing clinical reasoning, and existing measures; 2) cognitive interviews with five physiotherapy students to evaluate item understanding and feasibility; and 3) a Delphi process with 18 experts to evaluate content relevance. Phase 1 resulted in an instrument with four domains: Physiotherapist; Input from client; Functional behavioral analysis; and Strategies for behavior change. The instrument consists of case scenarios followed by items in which key features are identified, prioritized, or interpreted. Phase 2 resulted in revisions of problems and approval of feasibility. Phase 3 demonstrated high level of consensus regarding the instrument's content relevance. This feasible and content-validated instrument shows potential for use in investigations of physiotherapy students' and physiotherapists' clinical reasoning, however continued development and testing are needed.

A new epileptic seizure classification based exclusively on ictal semiology.

PubMed

Lüders, H; Acharya, J; Baumgartner, C; Benbadis, S; Bleasel, A; Burgess, R; Dinner, D S; Ebner, A; Foldvary, N; Geller, E; Hamer, H; Holthausen, H; Kotagal, P; Morris, H; Meencke, H J; Noachtar, S; Rosenow, F; Sakamoto, A; Steinhoff, B J; Tuxhorn, I; Wyllie, E

1999-03-01

Historically, seizure semiology was the main feature in the differential diagnosis of epileptic syndromes. With the development of clinical EEG, the definition of electroclinical complexes became an essential tool to define epileptic syndromes, particularly focal epileptic syndromes. Modern advances in diagnostic technology, particularly in neuroimaging and molecular biology, now permit better definitions of epileptic syndromes. At the same time detailed studies showed that there does not necessarily exist a one-to-one relationship between epileptic seizures or electroclinical complexes and epileptic syndromes. These developments call for the reintroduction of an epileptic seizure classification based exclusively on clinical semiology, similar to the seizure classifications which were used by neurologists before the introduction of the modern diagnostic methods. This classification of epileptic seizures should always be complemented by an epileptic syndrome classification based on all the available clinical information (clinical history, neurological exam, ictal semiology, EEG, anatomical and functional neuroimaging, etc.). Such an approach is more consistent with mainstream clinical neurology and would avoid the current confusion between the classification of epileptic seizures (which in the International Seizure Classification is actually a classification of electroclinical complexes) and the classification of epileptic syndromes.

Neuroblastoma in children: Update on clinicopathologic and genetic prognostic factors.

PubMed

Ahmed, Atif A; Zhang, Lei; Reddivalla, Naresh; Hetherington, Maxine

2017-04-01

Neuroblastoma is the most common extracranial solid tumor in childhood accounting for 8-10% of all childhood malignancies. The tumor is characterized by a spectrum of histopathologic features and a heterogeneous clinical phenotype. Modern multimodality therapy results in variable clinical response ranging from cure in localized tumors to limited response in aggressive metastatic disease. Accurate clinical staging and risk assessment based on clinical, surgical, biologic and pathologic criteria are of pivotal importance in assigning prognosis and planning effective treatment approaches. Numerous studies have analyzed the presence of several clinicopathologic and biologic factors in association with the patient's prognosis and outcome. Although patient's age, tumor stage, histopathologic classification, and MYCN amplification are the most commonly validated prognostic markers, several new gene mutations have been identified in sporadic and familial neuroblastoma cases that show association with an adverse outcome. Novel molecular studies have also added data on chromosomal segmental aberrations in MYCN nonamplified tumors. In this review, we provide an updated summary of the clinical, serologic and genetic prognostic indicators in neuroblastoma including classic factors that have consistently played a role in risk stratification of patients as well as newly discovered biomarkers that may show a potential significance in patients' management.

Molecular stratification and precision medicine in systemic sclerosis from genomic and proteomic data.

PubMed

Martyanov, Viktor; Whitfield, Michael L

2016-01-01

The goal of this review is to summarize recent advances into the pathogenesis and treatment of systemic sclerosis (SSc) from genomic and proteomic studies. Intrinsic gene expression-driven molecular subtypes of SSc are reproducible across three independent datasets. These subsets are a consistent feature of SSc and are found in multiple end-target tissues, such as skin and esophagus. Intrinsic subsets as well as baseline levels of molecular target pathways are potentially predictive of clinical response to specific therapeutics, based on three recent clinical trials. A gene expression-based biomarker of modified Rodnan skin score, a measure of SSc skin severity, can be used as a surrogate outcome metric and has been validated in a recent trial. Proteome analyses have identified novel biomarkers of SSc that correlate with SSc clinical phenotypes. Integrating intrinsic gene expression subset data, baseline molecular pathway information, and serum biomarkers along with surrogate measures of modified Rodnan skin score provides molecular context in SSc clinical trials. With validation, these approaches could be used to match patients with the therapies from which they are most likely to benefit and thus increase the likelihood of clinical improvement.

Time Is Not Always the Matter: An Instance of Encapsulating Peritoneal Sclerosis Developing in a Patient on Peritoneal Dialysis for a Short Term.

PubMed

De Oleo, Radhames Ramos; Villanueva, Hugo; Lwin, Lin; Katikaneni, Madhavi; Yoo, Jinil

Encapsulating peritoneal sclerosis (EPS) is an infrequent but serious complication that is observed mostly in patients on long-term peritoneal dialysis (PD). However it can occur after short-term PD, in association with "second hit" risk factors such as peritonitis, acute cessation of PD, or kidney transplantation with the use of calcineurin inhibitors.In our case, a young woman with second-hit risk factors presented with clinical and abdominal computed tomography findings consistent with EPS after short-term PD. She was treated conservatively with nutritional support and was discharged in improved and stable clinical status.In general, the diagnosis of EPS requires clinical findings of bowel obstruction combined with typical computed tomography imaging features. However, the clinical manifestations can be very vague, and the diagnosis is often unclear. A recent study categorized EPS into 4 clinical stages, from pre-EPS to chronic ileus, with associated management from conservative treatment to surgical intervention.In association with second-hit risk factors, EPS can occur after short-term PD. Severity is variable, and the outcome is often devastating. Timely recognition and expert management of EPS can change the outcome very favorably.

[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.

Standardized endpoint definitions for transcatheter aortic valve implantation clinical trials: a consensus report from the Valve Academic Research Consortium†

PubMed Central

Leon, Martin B.; Piazza, Nicolo; Nikolsky, Eugenia; Blackstone, Eugene H.; Cutlip, Donald E.; Kappetein, Arie Pieter; Krucoff, Mitchell W.; Mack, Michael; Mehran, Roxana; Miller, Craig; Morel, Marie-angèle; Petersen, John; Popma, Jeffrey J.; Takkenberg, Johanna J.M.; Vahanian, Alec; van Es, Gerrit-Anne; Vranckx, Pascal; Webb, John G.; Windecker, Stephan; Serruys, Patrick W.

2011-01-01

Objectives To propose standardized consensus definitions for important clinical endpoints in transcatheter aortic valve implantation (TAVI), investigations in an effort to improve the quality of clinical research and to enable meaningful comparisons between clinical trials. To make these consensus definitions accessible to all stakeholders in TAVI clinical research through a peer reviewed publication, on behalf of the public health. Background Transcatheter aortic valve implantation may provide a worthwhile less invasive treatment in many patients with severe aortic stenosis and since its introduction to the medical community in 2002, there has been an explosive growth in procedures. The integration of TAVI into daily clinical practice should be guided by academic activities, which requires a harmonized and structured process for data collection, interpretation, and reporting during well-conducted clinical trials. Methods and results The Valve Academic Research Consortium established an independent collaboration between Academic Research organizations and specialty societies (cardiology and cardiac surgery) in the USA and Europe. Two meetings, in San Francisco, California (September 2009) and in Amsterdam, the Netherlands (December 2009), including key physician experts, and representatives from the US Food and Drug Administration (FDA) and device manufacturers, were focused on creating consistent endpoint definitions and consensus recommendations for implementation in TAVI clinical research programs. Important considerations in developing endpoint definitions included (i) respect for the historical legacy of surgical valve guidelines; (ii) identification of pathophysiological mechanisms associated with clinical events; (iii) emphasis on clinical relevance. Consensus criteria were developed for the following endpoints: mortality, myocardial infarction, stroke, bleeding, acute kidney injury, vascular complications, and prosthetic valve performance. Composite endpoints for TAVI safety and effectiveness were also recommended. Conclusion Although consensus criteria will invariably include certain arbitrary features, an organized multidisciplinary process to develop specific definitions for TAVI clinical research should provide consistency across studies that can facilitate the evaluation of this new important catheter-based therapy. The broadly based consensus endpoint definitions described in this document may be useful for regulatory and clinical trial purposes. PMID:21216739

Parasitological, serological and clinical evidence for high prevalence of podoconiosis (non-filarial elephantiasis) in Midakegn district, central Ethiopia.

PubMed

Geshere Oli, Geleta; Tekola Ayele, Fasil; Petros, Beyene

2012-06-01

To determine whether the elephantiasis in Midakegn district, central Ethiopia, is filarial or non-filarial (podoconiosis) using serological, parasitological and clinical examinations, and to estimate its prevalence. At house-to-house visits in 330 randomly selected households, all household members who had elephantiasis were interviewed and clinically examined at the nearby health centre to confirm the presence of elephantiasis, check the presence of scrotal swelling and rule out the other causes of lymphoedema. A midnight blood sample was obtained from each participant with elephantiasis for microscopic examination of Wuchereria bancrofti microfilaria. A daytime blood sample was obtained from half of the participants for serological confirmation using the immuno-chromatographic test card. Consistent with the features of podoconiosis, none of the elephantiasis cases had consistently worn shoes since childhood; 94.3% had bilateral swelling limited below the level of the knees; no individual had thigh or scrotal elephantiasis; parasitological test for microfilariae and serological tests for W. bancrofti antigen were negative in all samples. The prevalence of the disease was 7.4% and it peaked in the third decade of life, the most economically active age. Midakegn District has a high prevalence of podoconiosis and no filarial elephantiasis. Prevention, treatment and control of podoconiosis must be among the top priorities of public health programmes. © 2012 Blackwell Publishing Ltd.

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

Kimpe, T; Marchessoux, C; Rostang, J

Purpose: Use of color images in medical imaging has increased significantly the last few years. As of today there is no agreed standard on how color information needs to be visualized on medical color displays, resulting into large variability of color appearance and it making consistency and quality assurance a challenge. This paper presents a proposal for an extension of DICOM GSDF towards color. Methods: Visualization needs for several color modalities (multimodality imaging, nuclear medicine, digital pathology, quantitative imaging applications…) have been studied. On this basis a proposal was made for desired color behavior of color medical display systems andmore » its behavior and effect on color medical images was analyzed. Results: Several medical color modalities could benefit from perceptually linear color visualization for similar reasons as why GSDF was put in place for greyscale medical images. An extension of the GSDF (Greyscale Standard Display Function) to color is proposed: CSDF (color standard display function). CSDF is based on deltaE2000 and offers a perceptually linear color behavior. CSDF uses GSDF as its neutral grey behavior. A comparison between sRGB/GSDF and CSDF confirms that CSDF significantly improves perceptual color linearity. Furthermore, results also indicate that because of the improved perceptual linearity, CSDF has the potential to increase perceived contrast of clinically relevant color features. Conclusion: There is a need for an extension of GSDF towards color visualization in order to guarantee consistency and quality. A first proposal (CSDF) for such extension has been made. Behavior of a CSDF calibrated display has been characterized and compared with sRGB/GSDF behavior. First results indicate that CSDF could have a positive influence on perceived contrast of clinically relevant color features and could offer benefits for quantitative imaging applications. Authors are employees of Barco Healthcare.« less

Towards an international taxonomy of integrated primary care: a Delphi consensus approach.

PubMed

Valentijn, Pim P; Vrijhoef, Hubertus J M; Ruwaard, Dirk; Boesveld, Inge; Arends, Rosa Y; Bruijnzeels, Marc A

2015-05-22

Developing integrated service models in a primary care setting is considered an essential strategy for establishing a sustainable and affordable health care system. The Rainbow Model of Integrated Care (RMIC) describes the theoretical foundations of integrated primary care. The aim of this study is to refine the RMIC by developing a consensus-based taxonomy of key features. First, the appropriateness of previously identified key features was retested by conducting an international Delphi study that was built on the results of a previous national Delphi study. Second, categorisation of the features among the RMIC integrated care domains was assessed in a second international Delphi study. Finally, a taxonomy was constructed by the researchers based on the results of the three Delphi studies. The final taxonomy consists of 21 key features distributed over eight integration domains which are organised into three main categories: scope (person-focused vs. population-based), type (clinical, professional, organisational and system) and enablers (functional vs. normative) of an integrated primary care service model. The taxonomy provides a crucial differentiation that clarifies and supports implementation, policy formulation and research regarding the organisation of integrated primary care. Further research is needed to develop instruments based on the taxonomy that can reveal the realm of integrated primary care in practice.

Breast-Lesion Characterization using Textural Features of Quantitative Ultrasound Parametric Maps.

PubMed

Sadeghi-Naini, Ali; Suraweera, Harini; Tran, William Tyler; Hadizad, Farnoosh; Bruni, Giancarlo; Rastegar, Rashin Fallah; Curpen, Belinda; Czarnota, Gregory J

2017-10-20

This study evaluated, for the first time, the efficacy of quantitative ultrasound (QUS) spectral parametric maps in conjunction with texture-analysis techniques to differentiate non-invasively benign versus malignant breast lesions. Ultrasound B-mode images and radiofrequency data were acquired from 78 patients with suspicious breast lesions. QUS spectral-analysis techniques were performed on radiofrequency data to generate parametric maps of mid-band fit, spectral slope, spectral intercept, spacing among scatterers, average scatterer diameter, and average acoustic concentration. Texture-analysis techniques were applied to determine imaging biomarkers consisting of mean, contrast, correlation, energy and homogeneity features of parametric maps. These biomarkers were utilized to classify benign versus malignant lesions with leave-one-patient-out cross-validation. Results were compared to histopathology findings from biopsy specimens and radiology reports on MR images to evaluate the accuracy of technique. Among the biomarkers investigated, one mean-value parameter and 14 textural features demonstrated statistically significant differences (p < 0.05) between the two lesion types. A hybrid biomarker developed using a stepwise feature selection method could classify the legions with a sensitivity of 96%, a specificity of 84%, and an AUC of 0.97. Findings from this study pave the way towards adapting novel QUS-based frameworks for breast cancer screening and rapid diagnosis in clinic.

Effect of finite sample size on feature selection and classification: a simulation study.

PubMed

Way, Ted W; Sahiner, Berkman; Hadjiiski, Lubomir M; Chan, Heang-Ping

2010-02-01

The small number of samples available for training and testing is often the limiting factor in finding the most effective features and designing an optimal computer-aided diagnosis (CAD) system. Training on a limited set of samples introduces bias and variance in the performance of a CAD system relative to that trained with an infinite sample size. In this work, the authors conducted a simulation study to evaluate the performances of various combinations of classifiers and feature selection techniques and their dependence on the class distribution, dimensionality, and the training sample size. The understanding of these relationships will facilitate development of effective CAD systems under the constraint of limited available samples. Three feature selection techniques, the stepwise feature selection (SFS), sequential floating forward search (SFFS), and principal component analysis (PCA), and two commonly used classifiers, Fisher's linear discriminant analysis (LDA) and support vector machine (SVM), were investigated. Samples were drawn from multidimensional feature spaces of multivariate Gaussian distributions with equal or unequal covariance matrices and unequal means, and with equal covariance matrices and unequal means estimated from a clinical data set. Classifier performance was quantified by the area under the receiver operating characteristic curve Az. The mean Az values obtained by resubstitution and hold-out methods were evaluated for training sample sizes ranging from 15 to 100 per class. The number of simulated features available for selection was chosen to be 50, 100, and 200. It was found that the relative performance of the different combinations of classifier and feature selection method depends on the feature space distributions, the dimensionality, and the available training sample sizes. The LDA and SVM with radial kernel performed similarly for most of the conditions evaluated in this study, although the SVM classifier showed a slightly higher hold-out performance than LDA for some conditions and vice versa for other conditions. PCA was comparable to or better than SFS and SFFS for LDA at small samples sizes, but inferior for SVM with polynomial kernel. For the class distributions simulated from clinical data, PCA did not show advantages over the other two feature selection methods. Under this condition, the SVM with radial kernel performed better than the LDA when few training samples were available, while LDA performed better when a large number of training samples were available. None of the investigated feature selection-classifier combinations provided consistently superior performance under the studied conditions for different sample sizes and feature space distributions. In general, the SFFS method was comparable to the SFS method while PCA may have an advantage for Gaussian feature spaces with unequal covariance matrices. The performance of the SVM with radial kernel was better than, or comparable to, that of the SVM with polynomial kernel under most conditions studied.

[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.

BATSE gamma-ray burst line search. 2: Bayesian consistency methodology

NASA Technical Reports Server (NTRS)

Band, D. L.; Ford, L. A.; Matteson, J. L.; Briggs, M.; Paciesas, W.; Pendleton, G.; Preece, R.; Palmer, D.; Teegarden, B.; Schaefer, B.

1994-01-01

We describe a Bayesian methodology to evaluate the consistency between the reported Ginga and Burst and Transient Source Experiment (BATSE) detections of absorption features in gamma-ray burst spectra. Currently no features have been detected by BATSE, but this methodology will still be applicable if and when such features are discovered. The Bayesian methodology permits the comparison of hypotheses regarding the two detectors' observations and makes explicit the subjective aspects of our analysis (e.g., the quantification of our confidence in detector performance). We also present non-Bayesian consistency statistics. Based on preliminary calculations of line detectability, we find that both the Bayesian and non-Bayesian techniques show that the BATSE and Ginga observations are consistent given our understanding of these detectors.

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.

Re-evaluating the prevalence of and diagnostic composition within the broad clinical spectrum of bipolar disorders.

PubMed

Akiskal, H S; Bourgeois, M L; Angst, J; Post, R; Möller, H; Hirschfeld, R

2000-09-01

Until recently it was believed that no more than 1% of the general population has bipolar disorder. Emerging transatlantic data are beginning to provide converging evidence for a higher prevalence of up to at least 5%. Manic states, even those with mood-incongruent features, as well as mixed (dysphoric) mania, are now formally included in both ICD-10 and DSM-IV. Mixed states occur in an average of 40% of bipolar patients over a lifetime; current evidence supports a broader definition of mixed states consisting of full-blown mania with two or more concomitant depressive symptoms. The largest increase in prevalence rates, however, is accounted for by 'softer' clinical expressions of bipolarity situated between the extremes of full-blown bipolar disorder where the person has at least one manic episode (bipolar I) and strictly defined unipolar major depressive disorder without personal or family history for excited periods. Bipolar II is the prototype for these intermediary conditions with major depressions and history of spontaneous hypomanic episodes; current evidence indicates that most hypomanias pursue a recurrent course and that their usual duration is 1-3 days, falling below the arbitrary 4-day cutoff required in DSM-IV. Depressions with antidepressant-associated hypomania (sometimes referred to as bipolar III) also appear, on the basis of extensive international research neglected by both ICD-10 and DSM-IV, to belong to the clinical spectrum of bipolar disorders. Broadly defined, the bipolar spectrum in studies conducted during the last decade accounts for 30-55% of all major depressions. Rapid-cycling, defined as alternation of depressive and excited (at least four per year), more often arise from a bipolar II than a bipolar I baseline; such cycling does not in the main appear to be a distinct clinical subtype - but rather a transient complication in 20% in the long-term course of bipolar disorder. Major depressions superimposed on cyclothymic oscillations represent a more severe variant of bipolar II, often mistaken for borderline or other personality disorders in the dramatic cluster. Moreover, atypical depressive features with reversed vegetative signs, anxiety states, as well as alcohol and substance abuse comorbidity, is common in these and other bipolar patients. The proper recognition of the entire clinical spectrum of bipolarity behind such 'masks' has important implications for psychiatric research and practice. Conditions which require further investigation include: (1) major depressive episodes where hyperthymic traits - lifelong hypomanic features without discrete hypomanic episodes - dominate the intermorbid or premorbid phases; and (2) depressive mixed states consisting of few hypomanic symptoms (i.e., racing thoughts, sexual arousal) during full-blown major depressive episodes - included in Kraepelin's schema of mixed states, but excluded by DSM-IV. These do not exhaust all potential diagnostic entities for possible inclusion in the clinical spectrum of bipolar disorders: the present review did not consider cyclic, seasonal, irritable-dysphoric or otherwise impulse-ridden, intermittently explosive or agitated psychiatric conditions for which the bipolar connection is less established. The concept of bipolar spectrum as used herein denotes overlapping clinical expressions, without necessarily implying underlying genetic homogeneity. In the course of the illness of the same patient, one often observes the varied manifestations described above - whether they be formal diagnostic categories or those which have remained outside the official nosology. Some form of life charting of illness with colored graphic representation of episodes, stressors, and treatments received can be used to document the uniquely varied course characteristic of each patient, thereby greatly enhancing clinical evaluation.

Celiac disease in Saudi children. Evaluation of clinical features and diagnosis.

PubMed

Saeed, Anjum; Assiri, Asaad; Assiri, Hebah; Ullah, Anhar; Rashid, Mohsin

2017-09-01

 Objectives: To characterize the clinical presentations and diagnosis including serological tests and histopathological findings in children with celiac disease. Methods: All children (less than 18 years) with confirmed celiac disease diagnosed over a 6 year period at a private tertiary care health care center in Riyadh,  Saudi Arabia were studied retrospectively. Information collected included demographics, clinical presentation and diagnostic modalities with serology and small intestinal histology reported by Marsh grading. Results: A total of 59 children had confirmed celiac disease. Thirty (50.8%) were male. Median age was 8 years (range 1 to 16 years). The mean duration of symptoms before diagnosis was 2.3 (±1.5) years. Classical disease was present only in 30.5%, whereas 69.5% had either non-classical presentations or belonged to high risk groups for celiac disease such as those with type-1 diabetes, autoimmune thyroiditis, Down syndrome and siblings. Failure to thrive was the most common presentation followed by short stature, abdominal pain and chronic diarrhea. Anti-tissue transglutaminase antibody was positive in 91.5%, and titers were no different between those with classical and non-classical disease. All had Marsh-graded biopsy findings consistent with celiac disease. Conclusion: Children with celiac disease usually present with non-classical features. A high index of suspicion needs to be maintained to consider this disorder in the diagnostic workup of pediatric patients. High risk group should be screened early to avoid complications associated with untreated celiac disease.

[Autoimmune hepatitis in a girl with presence of anti-LKM1 antibodies].

PubMed

Larraín, F; Miquel, J F; González, S

1997-06-01

Autoimmune hepatitis is an inflammatory liver disease characterized by dense mononuclear cell infiltrate in the portal tract, and serologically by the presence of non-organ and liver-specific autoantibodies and increased levels of gammaglobulins in the absence of a known etiology. Three subgroups of autoimmune hepatitis have been recognized, depending on the nature of the autoantibody present in the serum: Type 1 autoimmune hepatitis, associated with smooth-muscle (SMA) or antinuclear antibody (ANA) seropositivity; type 2, with anti-liver/kidney microsome antibody (anti-LKM1), and type 3, with the absence of ANA, SMA and anti-LKM1 and presence of other autoantibodies such as anti-soluble liver antigen (SLA). Subtypes of chronic autoimmune hepatitis have clinically different features and prognoses. An 8 year old female patient presented mild jaundice of insidious onset. The liver was tender and enlarged. Serologic markers for A, B, C, E, Epstein Barr and cytomegalovirus were negative. The liver biopsy showed a histological picture consistent with chronic active hepatitis. High titers of anti-liver/kidney-microsome antibody were found by indirect immunofluorescence test, and this finding was confirmed by Western blot against specific liver microsome antigens. Therapy with prednisolone induced a clinical and biochemical remission after four weeks. The suspension of therapy under strict medical control produced a rapid relapse of clinical and biochemical features. The reinitiation of prednisolone was successful, and an alternate-day program was started and maintained until 8 months follow-up.

Clinical and genetic features of human prion diseases in Catalonia: 1993-2002.

PubMed

Sanchez-Valle, R; Nos, C; Yagüe, J; Graus, F; Domínguez, A; Saiz, A

2004-10-01

We describe the clinical and genetic characteristics of the 85 definite or probable human prion diseases cases died between January 1993 and December 2002 in Catalonia (an autonomous community of Spain, 6 million population). Seventy-three (86%) cases were sporadic Creutzfeld-Jakob diseases (sCJD) (49 definite, 24 probable), with a median age at onset of 66 years. The clinical presentation was dementia in 29 cases, ataxia in 14 and visual symptoms in five. The median survival was 3 months. The 14-3-3 assay was positive in 93% cases, 62% presented periodic sharp wave complexes (PSWC) in EEG but only 18% the typical signs on MRI. Forty-eight sCJD were studied for codon 129 PRNP polymorphism: 69% were methionine/methionine (M/M), 14.5% valine/valine (V/V) and 16.5% M/V. Six out of seven V/V cases did not present PSWC and in two survival was longer than 20 months. Eleven cases (13%) were genetic: five familial fatal insomnia and six familial CJD (fCJD). Up to four (67%) fCJD lacked family history of disease, two presented seizures early at onset and one neurosensorial deafness. The only iatrogenic case was related to a dura mater graft. No case of variant CJD was registered. The study confirms in our population the consistent pattern reported worldwide on human prion diseases. Atypical features were seen more frequently in sporadic 129 V/V CJD and fCJD cases.

[Imported malaria in adults. Clinical, epidemiological and analytical features].

PubMed

Ramírez-Olivencia, G; Herrero, M D; Subirats, M; de Juanes, J R; Peña, J M; Puente, S

2012-01-01

Up to now, the epidemiological and clinical features of imported malaria in Spain have been described in small series from general hospitals. Almost all diagnosis had been made based on symptomatic patients. The aim of this study has been to determine the epidemiological, clinical and laboratorial characteristics of imported malaria in a Reference Unit for Tropical Diseases. We performed a cross-sectional, observational and retrospective study. The series consisted of patients diagnosed of malaria who had been attended at the Hospital Carlos III from January 1, 2002 to December 31, 2007. We identified 484 episodes of malaria, of which 398 cases were included in the analysis. Almost 50% of the patients were natives of endemic areas, while the rest were native-travelers or travelers. Most cases (88-98% according to the group) had not taken malaria chemoprophylaxis correctly when indicated. At the time of diagnosis, 30.4% of patients were asymptomatic and 28.1% of asymptomatic patients had anemia, 19.8% thrombocytopenia, 14% leukopenia, 5% hypocholesterolemia, 5% renal failure and 4.1% hypoglycemia. Low parasitemia was present in 97.5% of asymptomatic individuals compared to 80.5% of the symptomatic patients (P<0.001). Absence of chemoprophylaxis (or poor compliance) is the main reason for malaria in individuals traveling to endemic areas. Malaria must be ruled out in individuals coming from tropical countries with compatible symptoms, and it also should be suspected in certain groups of asymptomatic individuals with abnormal laboratorial parameters. Copyright © 2011 Elsevier España, S.L. All rights reserved.

[Diagnostic imaging of high-grade astrocytoma: heterogeneity of clinical manifestation, image characteristics, and histopathological findings].

PubMed

Okajima, Kaoru; Ohta, Yoshio

2012-10-01

Recent developments in diagnostic radiology, which have enabled accurate differential diagnoses of brain tumors, have been well described in the last three decades. MR and PET imaging can also provide information to predict histological grades and prognoses that might influence treatment strategies. However, high-grade astrocytomas consist of many different subtypes that are associated with different imaging and histological characteristics. Hemorrhage and necrosis results in a variety of imaging features, and infiltrative tumor growth entrapping normal neurons may cause different clinical manifestations. We reviewed patients with high-grade astrocytomas that showed various imaging characteristics, with special emphasis on initial symptoms and histological features. Clinicopathological characteristics of astrocytomas were also compared with other malignant tumors. Neurological deficits were not notable in patients with grade 3-4 astrocytomas when they showed infiltrative tumor growth, while brain metastases with compact cellular proliferation caused more neurological symptoms. Infiltrative tumors did not show any enhancing masses on MR imaging, but these tumors may show intratumor heterogeneity. Seizures were reported to be more frequent in low-grade glioma and in secondary glioblastoma. Tumor heterogeneity was also reported in molecular genetic profile, and investigators identified some subsets of astrocytomas. They investigated IHD1/2 mutation, EGFR amplification, TP53 mutation, Ki-67 index, etc. In summary, high-grade astrocytomas are not homogenous groups of tumors, and this is associated with the heterogeneity of clinical manifestation, image characteristics, and histopathological findings. Molecular studies may explain the tumor heterogeneity in the near future.

A Perspective on Middle-Aged and Older Men With Functional Hypogonadism: Focus on Holistic Management.

PubMed

Grossmann, Mathis; Matsumoto, Alvin M

2017-03-01

Middle-aged and older men (≥50 years), especially those who are obese and suffer from comorbidities, not uncommonly present with clinical features consistent with androgen deficiency and modestly reduced testosterone levels. Commonly, such men do not demonstrate anatomical hypothalamic-pituitary-testicular axis pathology but have functional hypogonadism that is potentially reversible. Literature review from 1970 to October 2016. Although definitive randomized controlled trials are lacking, evidence suggests that in such men, lifestyle measures to achieve weight loss and optimization of comorbidities, including discontinuation of offending medications, lead to clinical improvement and a modest increase in testosterone. Also, androgen deficiency-like symptoms and end-organ deficits respond to targeted treatments (such as phosphodiesterase-5 inhibitors for erectile dysfunction) without evidence that hypogonadal men are refractory. Unfortunately, lifestyle interventions remain difficult and may be insufficient even if successful. Testosterone therapy should be considered primarily for men who have significant clinical features of androgen deficiency and unequivocally low testosterone levels. Testosterone should be initiated either concomitantly with a trial of lifestyle measures, or after such a trial fails, after a tailored diagnostic work-up, exclusion of contraindications, and appropriate counseling. There is modest evidence that functional hypogonadism responds to lifestyle measures and optimization of comorbidities. If achievable, these interventions may have demonstrable health benefits beyond the potential for increasing testosterone levels. Therefore, treatment of underlying causes of functional hypogonadism and of symptoms should be used either as an initial or adjunctive approach to testosterone therapy.

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.

Acquired Brachial Cutaneous Dyschromatosis in a Middle Aged Male

PubMed Central

Choi, Min Jung; Byun, Ji Yeon; Choi, Hae Young

2018-01-01

Acquired brachial cutaneous dyschromatosis (ABCD) is an acquired disorder of pigmentary change that presents as chronic, asymptomatic, geographic-shaped, gray-brown patches, consisting of mixed hyper and hypopigmented macules on the dorsal aspect of the forearms. We report a case of a 40-year-old male who presented with asymptomatic, multiple brown-colored macules on the outer aspects of both arms. He had no history of hypertension and had never taken angiotensin converting enzyme inhibitors. He also denied chronic sun exposure history. Histologic examination demonstrated epidermal atrophy, increased basal layer pigmentation, and several telangiectatic vessels in the upper dermis. Solar elastosis was not remarkable. The patient's clinical and histopathologic features were consistent with a diagnosis of ABCD. Poikiloderma of Civatte, melasma, acquired bilateral telangiectatic macules and other pigmentary disorders should be considered in the differential diagnosis of ABCD. Herein, we report a case of ABCD in a middle-aged male without hypertension and medication. PMID:29853750

46,XY hypergonadotropic hypogonadism and myasthenia gravis.

PubMed

Lichiardopol, Corina; Herlea, V; Ioan, Virginia; Tomulescu, V; Mixich, F

2006-01-01

Both hypergonadotropic hypogonadism and myasthenia gravis can be parts of type II autoimmune polyendocrine syndrome and association between the two disorders has been reported in few cases. A 14 year old male patient with a personal history of bilateral cryptorchidism and ptosis was referred for delayed puberty. Clinical examination revealed eunuchoid habitus, small, soft testes, gynecomastia, ptosis, a myasthenic deficit score of 22.5 points and an IQ of 84 points. Decreased testosterone (0.064 ng/mL) and elevated LH (64.5 mUI/mL) were consistent with hypergonadotropic hypogonadism and karyotype was normal: 46,XY. Thyroid function, haematologic evaluation, BUN, electrolytes, and glycemia were in the normal range. Therapy consisted of anticholinesterase inhibitors, immunosuppressants, corticotherapy, testosterone; thoracoscopic thymectomy was performed showing thymic lymphoid hyperplasia on histopathologic examination. Myasthenic score improved (12.5 points), progressive virilization occurred, and a year later the patient presented with cushingoid features and obesity.

Automated interviews on clinical case reports to elicit directed acyclic graphs.

PubMed

Luciani, Davide; Stefanini, Federico M

2012-05-01

Setting up clinical reports within hospital information systems makes it possible to record a variety of clinical presentations. Directed acyclic graphs (Dags) offer a useful way of representing causal relations in clinical problem domains and are at the core of many probabilistic models described in the medical literature, like Bayesian networks. However, medical practitioners are not usually trained to elicit Dag features. Part of the difficulty lies in the application of the concept of direct causality before selecting all the causal variables of interest for a specific patient. We designed an automated interview to tutor medical doctors in the development of Dags to represent their understanding of clinical reports. Medical notions were analyzed to find patterns in medical reasoning that can be followed by algorithms supporting the elicitation of causal Dags. Clinical relevance was defined to help formulate only relevant questions by driving an expert's attention towards variables causally related to nodes already inserted in the graph. Key procedural features of the proposed interview are described by four algorithms. The automated interview comprises questions on medical notions, phrased in medical terms. The first elicitation session produces questions concerning the patient's chief complaints and the outcomes related to diseases serving as diagnostic hypotheses, their observable manifestations and risk factors. The second session focuses on questions that refine the initial causal paths by considering syndromes, dysfunctions, pathogenic anomalies, biases and effect modifiers. A case study concerning a gastro-enterological problem and one dealing with an infected patient illustrate the output produced by the algorithms, depending on the answers provided by the doctor. The proposed elicitation framework is characterized by strong consistency with medical background and by a progressive introduction of relevant medical topics. Revision and testing of the subjectively elicited Dag is performed by matching the collected answers with the evidence included in accepted sources of biomedical knowledge. Copyright © 2011 Elsevier B.V. All rights reserved.

Standardized evaluation of algorithms for computer-aided diagnosis of dementia based on structural MRI: the CADDementia challenge.

PubMed

Bron, Esther E; Smits, Marion; van der Flier, Wiesje M; Vrenken, Hugo; Barkhof, Frederik; Scheltens, Philip; Papma, Janne M; Steketee, Rebecca M E; Méndez Orellana, Carolina; Meijboom, Rozanna; Pinto, Madalena; Meireles, Joana R; Garrett, Carolina; Bastos-Leite, António J; Abdulkadir, Ahmed; Ronneberger, Olaf; Amoroso, Nicola; Bellotti, Roberto; Cárdenas-Peña, David; Álvarez-Meza, Andrés M; Dolph, Chester V; Iftekharuddin, Khan M; Eskildsen, Simon F; Coupé, Pierrick; Fonov, Vladimir S; Franke, Katja; Gaser, Christian; Ledig, Christian; Guerrero, Ricardo; Tong, Tong; Gray, Katherine R; Moradi, Elaheh; Tohka, Jussi; Routier, Alexandre; Durrleman, Stanley; Sarica, Alessia; Di Fatta, Giuseppe; Sensi, Francesco; Chincarini, Andrea; Smith, Garry M; Stoyanov, Zhivko V; Sørensen, Lauge; Nielsen, Mads; Tangaro, Sabina; Inglese, Paolo; Wachinger, Christian; Reuter, Martin; van Swieten, John C; Niessen, Wiro J; Klein, Stefan

2015-05-01

Algorithms for computer-aided diagnosis of dementia based on structural MRI have demonstrated high performance in the literature, but are difficult to compare as different data sets and methodology were used for evaluation. In addition, it is unclear how the algorithms would perform on previously unseen data, and thus, how they would perform in clinical practice when there is no real opportunity to adapt the algorithm to the data at hand. To address these comparability, generalizability and clinical applicability issues, we organized a grand challenge that aimed to objectively compare algorithms based on a clinically representative multi-center data set. Using clinical practice as the starting point, the goal was to reproduce the clinical diagnosis. Therefore, we evaluated algorithms for multi-class classification of three diagnostic groups: patients with probable Alzheimer's disease, patients with mild cognitive impairment and healthy controls. The diagnosis based on clinical criteria was used as reference standard, as it was the best available reference despite its known limitations. For evaluation, a previously unseen test set was used consisting of 354 T1-weighted MRI scans with the diagnoses blinded. Fifteen research teams participated with a total of 29 algorithms. The algorithms were trained on a small training set (n=30) and optionally on data from other sources (e.g., the Alzheimer's Disease Neuroimaging Initiative, the Australian Imaging Biomarkers and Lifestyle flagship study of aging). The best performing algorithm yielded an accuracy of 63.0% and an area under the receiver-operating-characteristic curve (AUC) of 78.8%. In general, the best performances were achieved using feature extraction based on voxel-based morphometry or a combination of features that included volume, cortical thickness, shape and intensity. The challenge is open for new submissions via the web-based framework: http://caddementia.grand-challenge.org. Copyright © 2015 Elsevier Inc. All rights reserved.

Depressive symptom profiles and severity patterns in outpatients with psychotic vs nonpsychotic major depression.

PubMed

Gaudiano, Brandon A; Young, Diane; Chelminski, Iwona; Zimmerman, Mark

2008-01-01

Previous research suggests that patients with psychotic major depression (PMD) may differ from those with nonpsychotic major depression (NMD) not only in psychotic features but also in their depressive symptom presentation. The present study contrasted the rates and severity of depressive symptoms in outpatients diagnosed with PMD vs NMD. The sample consisted of 1112 patients diagnosed with major depression, of which 60 (5.3%) exhibited psychotic features. Depressive symptoms were assessed by trained diagnosticians at intake using the Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition and supplemented by severity items from the Schedule for Affective Disorders and Schizophrenia. Patients with PMD were more likely to endorse the presence of weight loss, insomnia, psychomotor agitation, indecisiveness, and suicidality compared with NMD patients. Furthermore, PMD patients showed higher levels of severity on several depressive symptoms, including depressed mood, appetite loss, insomnia, psychomotor disturbances (agitation and retardation), fatigue, worthlessness, guilt, cognitive disturbances (concentration and indecisiveness), hopelessness, and suicidal ideation. The presence of psychomotor disturbance, insomnia, indecisiveness, and suicidal ideation was predictive of diagnostic status even after controlling for the effects of demographic characteristics and other symptoms. These findings are consistent with past research suggesting that PMD is characterized by a unique depressive symptom profile in addition to psychotic features and higher levels of overall depression severity. The identification of specific depressive symptoms in addition to delusions/hallucinations that can differentiate PMD vs NMD patients can aid in the early detection of the disorder. These investigations also provide insights into potential treatment targets for this high-risk population.

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 ...

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.

Descriptive summary of an outbreak of porcine post-weaning multisystemic wasting syndrome (PMWS ) in New Zealand.

PubMed

Neumann, E J; Dobbinson, S S A; Welch, E B M; Morris, R S

2007-12-01

Investigations were conducted to determine the cause of an acute, multi-farm outbreak of porcine respiratory disease that included diarrhoea and subsequent loss of body condition in affected pigs. A definition for post-weaning multisystemic wasting syndrome (PMWS) including both clinical and pathological features, previously developed for the pig industry in New Zealand, was applied to the current outbreak. In addition to self-reporting by owners of affected farms, local veterinarians, disease and epidemiology consultants, and animal health officials from the Ministry of Agriculture and Forestry (MAF) were involved in conducting farm visits and submission of diagnostic specimens. Pathogens known to be endemic in the pig industry in New Zealand as well as likely exotic diseases were excluded as causative agents of the outbreak. Clinical signs including dyspnoea, diarrhoea, and rapid loss of body condition were consistent with the New Zealand case definition for PMWS. Interstitial pneumonia, pulmonary oedema, generalised lymph-node enlargement, and presence of porcine circovirus type 2 (PCV2) inclusion bodies were consistently identified in affected pigs. Classical swine fever virus (CSFv), Porcine reproductive and respiratory syndrome virus (PRRSv), and Influenza virus were ruled out, using molecular and traditional virological techniques. Spread of the disease between farms was hypothesised to be facilitated by locally migrating flocks of black-backed seagulls. The original source of the disease incursion was not identified. Based on the consistent presence of circovirus-associated lesions in lymphoid tissues in combination with generalised enlargement of lymph nodes, histiocytic interstitial pneumonia, clinical wasting, and poor response to antibiotic therapy, a diagnosis of PMWS was made. PMWS should be considered in the differential diagnoses of sudden onset of respiratory dyspnoea, diarrhoea, and rapid loss of body condition in young pigs in New Zealand pig herds.

Can radiomics features be reproducibly measured from CBCT images for patients with non-small cell lung cancer?

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

Fave, Xenia, E-mail: xjfave@mdanderson.org; Fried, David; Mackin, Dennis

Purpose: Increasing evidence suggests radiomics features extracted from computed tomography (CT) images may be useful in prognostic models for patients with nonsmall cell lung cancer (NSCLC). This study was designed to determine whether such features can be reproducibly obtained from cone-beam CT (CBCT) images taken using medical Linac onboard-imaging systems in order to track them through treatment. Methods: Test-retest CBCT images of ten patients previously enrolled in a clinical trial were retrospectively obtained and used to determine the concordance correlation coefficient (CCC) for 68 different texture features. The volume dependence of each feature was also measured using the Spearman rankmore » correlation coefficient. Features with a high reproducibility (CCC > 0.9) that were not due to volume dependence in the patient test-retest set were further examined for their sensitivity to differences in imaging protocol, level of scatter, and amount of motion by using two phantoms. The first phantom was a texture phantom composed of rectangular cartridges to represent different textures. Features were measured from two cartridges, shredded rubber and dense cork, in this study. The texture phantom was scanned with 19 different CBCT imagers to establish the features’ interscanner variability. The effect of scatter on these features was studied by surrounding the same texture phantom with scattering material (rice and solid water). The effect of respiratory motion on these features was studied using a dynamic-motion thoracic phantom and a specially designed tumor texture insert of the shredded rubber material. The differences between scans acquired with different Linacs and protocols, varying amounts of scatter, and with different levels of motion were compared to the mean intrapatient difference from the test-retest image set. Results: Of the original 68 features, 37 had a CCC >0.9 that was not due to volume dependence. When the Linac manufacturer and imaging protocol were kept consistent, 4–13 of these 37 features passed our criteria for reproducibility more than 50% of the time, depending on the manufacturer-protocol combination. Almost all of the features changed substantially when scatter material was added around the phantom. For the dense cork, 23 features passed in the thoracic scans and 11 features passed in the head scans when the differences between one and two layers of scatter were compared. Using the same test for the shredded rubber, five features passed the thoracic scans and eight features passed the head scans. Motion substantially impacted the reproducibility of the features. With 4 mm of motion, 12 features from the entire volume and 14 features from the center slice measurements were reproducible. With 6–8 mm of motion, three features (Laplacian of Gaussian filtered kurtosis, gray-level nonuniformity, and entropy), from the entire volume and seven features (coarseness, high gray-level run emphasis, gray-level nonuniformity, sum-average, information measure correlation, scaled mean, and entropy) from the center-slice measurements were considered reproducible. Conclusions: Some radiomics features are robust to the noise and poor image quality of CBCT images when the imaging protocol is consistent, relative changes in the features are used, and patients are limited to those with less than 1 cm of motion.« less

Primary diffuse large B cell lymphoma arising from a leiomyoma of the uterine corpus.

PubMed

Zhao, Lianhua; Ma, Qiang; Wang, Qiushi; Zeng, Ying; Luo, Qingya; Xiao, Hualiang

2016-01-20

Primary diffuse large B cell lymphoma (DLBCL) of the uterus is rare, and primary DLBCL arising from a uterine leiomyoma (collision tumor) has not been reported in the literature. We describe the clinical, histological, immunohistochemical, and molecular features of primary DLBCL arising from a leiomyoma in the uterine corpus. A 73-year-old female patient had a uterine mass for 23 years. An ultrasound scan revealed marked enlargement of the uterus, measuring 18.2 × 13 × 16.3 cm, with a 17.6 × 10.9 × 11.6 cm hypoechoic mass in the uterine corpus. The tumors consisted of medium- to large-sized cells exhibiting a diffuse pattern of growth with a well-circumscribed leiomyoma. The neoplastic cells strongly expressed CD79α, CD20 and PAX5. Molecular analyses indicated clonal B-cell receptor gene rearrangement. To the best of our knowledge, no previous cases of primary DLBCL arising from a leiomyoma have been reported. It is necessary to differentiate a diagnosis of primary DLBCL arising from a leiomyoma from that of leiomyoma with florid reactive lymphocytic infiltration (lymphoma-like lesion). Careful analysis of clinical, histological, immunophenotypic, and genetic features is required to establish the correct diagnosis.