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.

Rhinovirus species and clinical features in children hospitalised with pneumonia from Mozambique.

PubMed

Annamalay, Alicia A; Lanaspa, Miguel; Khoo, Siew-Kim; Madrid, Lola; Acácio, Sozinho; Zhang, Guicheng; Laing, Ingrid A; Gern, James; Goldblatt, Jack; Bizzintino, Joelene; Lehmann, Deborah; Le Souëf, Peter N; Bassat, Quique

2016-09-01

To describe the prevalence of human rhinovirus (RV) species in children hospitalised with pneumonia in Manhiça, Mozambique, and the associations between RV species and demographic, clinical and laboratory features. Nasopharyngeal aspirates were collected from children 0 to 10 years of age (n = 277) presenting to Manhiça District Hospital with clinical pneumonia. Blood samples were collected for HIV and malaria testing, blood culture and full blood counts, and a chest X-ray was performed. A panel of common respiratory viruses was investigated using two independent multiplex RT-PCR assays with primers specific for each virus and viral type. RV species and genotypes were identified by seminested PCR assays, sequencing and phylogenetic tree analyses. At least one respiratory virus was identified in 206 (74.4%) children hospitalised with clinical pneumonia. RV was the most common virus identified in both HIV-infected (17 of 38, 44.7%) and HIV-uninfected (74 of 237, 31.2%; P = 0.100) children. RV-A was the most common RV species identified (47 of 275, 17.0%), followed by RV-C (35/275, 12.6%) and RV-B (8/275, 2.9%). Clinical presentation of the different RV species was similar and overlapping, with no particular species being associated with specific clinical features. RV-A and RV-C were the most common respiratory viruses identified in children hospitalised with clinical pneumonia in Manhiça. Clinical presentation of RV-A and RV-C was similar and overlapping. © 2016 John Wiley & Sons Ltd.

Evaluation of Planning Dysfunction in Attention Deficit Hyperactivity Disorder and Autistic Spectrum Disorders Using the Zoo Map Task

ERIC Educational Resources Information Center

Salcedo-Marin, M. D.; Moreno-Granados, J. M.; Ruiz-Veguilla, M.; Ferrin, M.

2013-01-01

Attention-Deficit-Hyperactivity-Disorders (ADHD) and Autistic-Spectrum-Disorders (ASD) share overlapping clinical and cognitive features that may confuse the diagnosis. Evaluation of executive problems and planning dysfunction may aid the clinical diagnostic process and help disentangle the neurobiological process underlying these conditions. This…

Computed tomography in hypersensitivity pneumonitis: main findings, differential diagnosis and pitfalls.

PubMed

Dias, Olívia Meira; Baldi, Bruno Guedes; Pennati, Francesca; Aliverti, Andrea; Chate, Rodrigo Caruso; Sawamura, Márcio Valente Yamada; Carvalho, Carlos Roberto Ribeiro de; Albuquerque, André Luis Pereira de

2018-01-01

Hypersensitivity pneumonitis (HP) is a disease with variable clinical presentation in which inflammation in the lung parenchyma is caused by the inhalation of specific organic antigens or low molecular weight substances in genetically susceptible individuals. Alterations of the acute, subacute and chronic forms may eventually overlap, and the diagnosis based on temporality and presence of fibrosis (acute/inflammatory HP vs. chronic HP) seems to be more feasible and useful in clinical practice. Differential diagnosis of chronic HP with other interstitial fibrotic diseases is challenging due to the overlap of the clinical history, and the functional and imaging findings of these pathologies in the terminal stages. Areas covered: This article reviews the essential features of HP with emphasis on imaging features. Moreover, the main methodological limitations of high-resolution computed tomography (HRCT) interpretation are discussed, as well as new perspectives with volumetric quantitative CT analysis as a useful tool for retrieving detailed and accurate information from the lung parenchyma. Expert commentary: Mosaic attenuation is a prominent feature of this disease, but air trapping in chronic HP seems overestimated. Quantitative analysis has the potential to estimate the involvement of the pulmonary parenchyma more accurately and could correlate better with pulmonary function results.

Biological research on burnout-depression overlap: Long-standing limitations and on-going reflections.

PubMed

Bianchi, Renzo; Schonfeld, Irvin Sam; Laurent, Eric

2017-12-01

In this commentary, we discuss seldom-noticed methodological problems affecting biological research on burnout and depression and make recommendations to overcome the limitations of past studies conducted in this area. First, we suggest that identified subtypes of depression (e.g., depression with melancholic features and depression with atypical features) should be taken into account in future biological research on burnout and depression, given that different subtypes of depression have been associated with distinct autonomic and neuroendocrine profiles. Second, we underline that research on burnout-depression overlap is made difficult by the absence of a consensual conceptualization and operationalization of burnout. In order to resolve this problem, we draw researchers' attention to the urgency of establishing a commonly shared, clinically valid diagnosis for burnout. Finally, we question the possibility of identifying a biological signature for burnout in light of global research on burnout-depression overlap. Copyright © 2017 Elsevier Ltd. All rights reserved.

Blue nevus and "malignant blue nevus:" A concise review.

PubMed

Sugianto, Jessica Zarah; Ralston, Jonathan Scott; Metcalf, John S; McFaddin, Courtney L; Smith, M Timothy

2016-07-01

Blue nevi are a heterogeneous group of lesions that can display a variety of different clinicopathological characteristics. Although attempts are made to classify each lesion into defined subtypes, there can be overlap between the subtypes. The clinical and histolopathologic features of common blue nevi and cellular blue nevi are discussed, as well as blue nevi with atypical features and malignant lesions with features of blue nevi. Copyright © 2016 Elsevier Inc. All rights reserved.

Redefining Dermatomyositis

PubMed Central

Troyanov, Yves; Targoff, Ira N; Payette, Marie-Pier; Raynauld, Jean-Pierre; Chartier, Suzanne; Goulet, Jean-Richard; Bourré-Tessier, Josiane; Rich, Eric; Grodzicky, Tamara; Fritzler, Marvin J.; Joyal, France; Koenig, Martial; Senécal, Jean-Luc

2014-01-01

Abstract Dermatomyositis (DM) is a major clinical subset of autoimmune myositis (AIM). The characteristic DM rash (Gottron papules, heliotrope rash) and perifascicular atrophy at skeletal muscle biopsy are regarded as specific features for this diagnosis. However, new concepts are challenging the current definition of DM. A modified Bohan and Peter classification of AIM was proposed in which the core concept was the inclusion of the diagnostic significance of overlap connective tissue disease features. In this clinical classification, a DM rash in association with myositis in the absence of overlap features indicates a diagnosis of pure DM. However, overlap features in association with myositis allow a diagnosis of overlap myositis (OM), irrespective of the presence or absence of the DM rash. Perifascicular atrophy may be present in both pure DM and OM. Recently, the presence of perifascicular atrophy in myositis without a DM rash was proposed as diagnostic of a novel entity, adermatopathic DM. We conducted the present study to evaluate these new concepts to further differentiate pure DM from OM. Using the modified Bohan and Peter classification, we performed a follow-up study of a longitudinal cohort of 100 consecutive adult French Canadian patients with AIM, including 44 patients with a DM phenotype, defined as a DM rash, and/or DM-type calcinosis, and/or the presence of perifascicular atrophy on muscle biopsy. A detailed evaluation was performed for overlap features, the extent and natural history of the DM rash, adermatopathic DM, DM-specific and overlap autoantibodies by protein A immunoprecipitation on coded serum samples, and associations with cancer and survival. Two distinct subsets were identified in patients with a DM phenotype: pure DM (n = 24) and OM with DM features, or OMDM (n = 20). In pure DM, the DM rash was a dominant finding. It was the first disease manifestation, was always present at the time of myositis diagnosis, and was associated with a high cutaneous score and chronicity. Concurrent heliotrope rash and Gottron papules (positive predictive value [PPV] 91%), as well as the V-sign and/or shawl sign (PPV 100%), were diagnostic of pure DM. Anti-Mi-2, anti-MJ, and anti-p155 autoantibodies were present in 50% of pure DM patients and were restricted to this subset (PPV 100%). Cancer was present in 21% of pure DM patients. The 15-year survival was excellent (92%). In contrast, in patients with OMDM, the first manifestation was proximal muscle weakness or other skeletal muscle-related complaints. The DM rash appeared at diagnosis or at follow-up, was associated with a low cutaneous extent score and was transient. Adermatopathic DM, which was absent in pure DM, was highly predictive (PPV 100%) of OMDM. Overlap autoantibodies (including anti-Jo-1, anti-PL-7, anti-PM-Scl, anti-U1RNP, and/or anti-U5-RNP) were found in 70% of OMDM patients. OMDM was not associated with cancer, but the 15-year survival was significantly decreased (65%). Perifascicular atrophy occurred as commonly in OMDM (n = 6/20, 30%) as in pure DM (n = 4/24, 17%) patients. These 6 OMDM patients had adermatopathic DM at myositis diagnosis, and only 1 of them developed a DM rash at follow-up, emphasizing the lack of specificity of perifascicular atrophy for pure DM. In conclusion, using the modified Bohan and Peter classification of AIM allowed identification of OMDM, a new clinical subset of OM. Furthermore, identification of OMDM allowed recognition of pure DM as a new entity that was distinct from OMDM or from OM without DM features. However, the absolute specificity of a DM rash and perifascicular muscle atrophy for the diagnosis of pure DM was lost. The distinctive clinical manifestations and autoantibody profiles presented are proposed as diagnostic criteria to differentiate pure DM from OMDM. PMID:25500701

[Primary biliary cirrhosis-autoimmune hepatitis overlap syndrome. Contribution of two new cases].

PubMed

Fernández Fernández, F J; de la Fuente Aguado, J; Pérez Fernández, S; Sopeña Pérez-Argüelles, B; Nodar Germiñas, A; Butrón Vila, M

2005-03-01

The autoimmune hepatitis (AIH)-primary biliary cirrhosis (PBC) overlap syndrome is characterized for clinical, biochemical, immunological, and histological features overlapping those of AIH and PBC, whose pathogenesis and more appropriate treatment are unknown at present. We describe two new patients of this entity, which made debut with cholestasic acute hepatitis accompanied of hypergammaglobulinemia. In the first patient was demonstrated the presence of AMA, ASMA, and anti-LKM1 autoantibodies; and ANA in the second one. The histological findings showed changes suggestive of AIH and PBC. After the start of immunosuppressive treatment, associated to ursodeoxycholic acid in one patient, a successful outcome was observed.

The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome

PubMed Central

Makita, Naomasa; Behr, Elijah; Shimizu, Wataru; Horie, Minoru; Sunami, Akihiko; Crotti, Lia; Schulze-Bahr, Eric; Fukuhara, Shigetomo; Mochizuki, Naoki; Makiyama, Takeru; Itoh, Hideki; Christiansen, Michael; McKeown, Pascal; Miyamoto, Koji; Kamakura, Shiro; Tsutsui, Hiroyuki; Schwartz, Peter J.; George, Alfred L.; Roden, Dan M.

2008-01-01

Phenotypic overlap of type 3 long QT syndrome (LQT3) with Brugada syndrome (BrS) is observed in some carriers of mutations in the Na channel SCN5A. While this overlap is important for patient management, the clinical features, prevalence, and mechanisms underlying such overlap have not been fully elucidated. To investigate the basis for this overlap, we genotyped a cohort of 44 LQT3 families of multiple ethnicities from 7 referral centers and found a high prevalence of the E1784K mutation in SCN5A. Of 41 E1784K carriers, 93% had LQT3, 22% had BrS, and 39% had sinus node dysfunction. Heterologously expressed E1784K channels showed a 15.0-mV negative shift in the voltage dependence of Na channel inactivation and a 7.5-fold increase in flecainide affinity for resting-state channels, properties also seen with other LQT3 mutations associated with a mixed clinical phenotype. Furthermore, these properties were absent in Na channels harboring the T1304M mutation, which is associated with LQT3 without a mixed clinical phenotype. These results suggest that a negative shift of steady-state Na channel inactivation and enhanced tonic block by class IC drugs represent common biophysical mechanisms underlying the phenotypic overlap of LQT3 and BrS and further indicate that class IC drugs should be avoided in patients with Na channels displaying these behaviors. PMID:18451998

Depression, anxiety and somatization in primary care: syndrome overlap and functional impairment.

PubMed

Löwe, Bernd; Spitzer, Robert L; Williams, Janet B W; Mussell, Monika; Schellberg, Dieter; Kroenke, Kurt

2008-01-01

To determine diagnostic overlap of depression, anxiety and somatization as well as their unique and overlapping contribution to functional impairment. Two thousand ninety-one consecutive primary care clinic patients participated in a multicenter cross-sectional survey in 15 primary care clinics in the United States (participation rate, 92%). Depression, anxiety, somatization and functional impairment were assessed using validated scales from the Patient Health Questionnaire (PHQ) (PHQ-8, eight-item depression module; GAD-7, seven-item Generalized Anxiety Disorder Scale; and PHQ-15, 15-item somatic symptom scale) and the Short-Form General Health Survey (SF-20). Multiple linear regression analyses were used to investigate unique and overlapping associations of depression, anxiety and somatization with functional impairment. In over 50% of cases, comorbidities existed between depression, anxiety and somatization. The contribution of the commonalities of depression, anxiety and somatization to functional impairment substantially exceeded the contribution of their independent parts. Nevertheless, depression, anxiety and somatization did have important and individual effects (i.e., separate from their overlap effect) on certain areas of functional impairment. Given the large syndrome overlap, a potential consideration for future diagnostic classification would be to describe basic diagnostic criteria for a single overarching disorder and to optionally code additional diagnostic features that allow a more detailed classification into specific depressive, anxiety and somatoform subtypes.

Palisaded Neutrophilic and Granulomatous Dermatitis/Interstitial Granulomatous Dermatitis Overlap: A Striking Clinical and Histologic Presentation With "Burning Rope Sign" and Subsequent Mirror-Image Contralateral Recurrence.

PubMed

Kern, Malan; Shiver, Mallory B; Addis, Kristen M; Gardner, Jerad M

2017-09-01

Palisaded neutrophilic and granulomatous dermatitis and interstitial granulomatous dermatitis are uncommon granulomatous dermatoses that often arise in association with rheumatoid arthritis. These 2 entities have overlapping features and may exist on a spectrum. We report an intriguing case of a 53-year-old man with advanced rheumatoid arthritis who presented with a large indurated painful truncal plaque with a palpable cord in addition to a papulonodular eruption on his dorsal hands. Furthermore, our patient had a recurrence in a near-identical mirror-image pattern on the contralateral trunk. The constellation of clinical and histopathological findings in our patient further suggests that palisaded neutrophilic and granulomatous dermatitis and interstitial granulomatous dermatitis exist as overlapping disease entities on a continuum. In addition, we propose that recurrence of skin findings may be indicative of the severity of the underlying systemic disease process.

Overlap of Dyspepsia in Patients with Gastroesophageal Reflux Disease: Impact of Clinical, Metabolic, and Psychosocial Characteristics.

PubMed

Hsu, Ching-Sheng; Wen, Shu-Hui; Hung, Jui-Sheng; Liu, Tso-Tsai; Yi, Chih-Hsun; Lei, Wei-Yi; Pace, Fabio; Chen, Chien-Lin

2017-04-01

Gastroesophageal reflux disease (GERD) and dyspepsia are highly prevalent in the general population with significant symptom overlap, while the interaction between both remains poorly understood. To examine whether GERD overlapping dyspepsia would have an impact on clinical and psychological features as compared with GERD alone. We performed a cross-sectional study in a GERD cohort (n = 868) that was previously recruited from a population-based GERD survey (n = 2752). We compared the clinical and psychological factors between patients with and without dyspeptic symptoms "epigastric pain or burning." All participants were evaluated with Reflux Disease Questionnaire score, Pittsburgh Sleep Quality Index score, Taiwanese Depression Questionnaire score, and State-Trait Anxiety Inventory score. Endoscopic findings were classified according to the Los Angeles classification. Among the GERD population, 107 subjects had overlapping "epigastric pain or burning" (GERD-D), and 761 did not have these symptoms (GERD alone). GERD-D subjects had more severe GERD symptoms and were more often associated with irritable bowel syndrome (IBS) (OR 3.54, 95% CI 1.92-6.52) as compared subjects with GERD alone. In addition, GERD-D subjects had lower quality of sleep (OR 1.11, 95% CI 1.01-1.21), higher depression (OR 1.06, 95% CI 1.02-1.10), lower blood pressure (OR 0.45, 95% CI 0.22-0.95), and higher serum total cholesterol levels (OR 2.78, 95% CI 1.36-5.67) than GERD alone. GERD-D subjects are characterized with worsening clinical symptoms as well as higher psychosocial, IBS, and metabolic comorbidities, but less erosive esophagitis. Our results indicate that clinical awareness of such overlapping condition would help optimize the management of GERD in clinical practice.

Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome.

PubMed

Kos, Sebastian; Roth, Katharina; Korinth, Dirk; Zeilinger, Georg; Eich, Georg

2008-08-01

We present a preterm-born girl with polydactyly of both hands and massive hydrometrocolpos, the latter due to vaginal atresia. This association led initially to the diagnosis of McKusick-Kaufman syndrome (MKKS). However, additional features, including characteristic radiographic findings of the hands and a large hypothalamic tumour, presumably a hamartoma, favoured the diagnosis of Pallister-Hall syndrome (PHS), which was then genetically confirmed by detection of a GLI3 mutation (Q717X). This is the second genetically confirmed case revealing the previously described association of PHS with hydrometrocolpos due to vaginal atresia as a clinical overlap with MKKS.

Rapid review of cognitive screening instruments in MCI: proposal for a process-based approach modification of overlapping tasks in select widely used instruments.

PubMed

Díaz-Orueta, Unai; Blanco-Campal, Alberto; Burke, Teresa

2018-05-01

ABSTRACTBackground:A detailed neuropsychological assessment plays an important role in the diagnostic process of Mild Cognitive Impairment (MCI). However, available brief cognitive screening tests for this clinical population are administered and interpreted based mainly, or exclusively, on total achievement scores. This score-based approach can lead to erroneous clinical interpretations unless we also pay attention to the test taking behavior or to the type of errors committed during test performance. The goal of the current study is to perform a rapid review of the literature regarding cognitive screening tools for dementia in primary and secondary care; this will include revisiting previously published systematic reviews on screening tools for dementia, extensive database search, and analysis of individual references cited in selected studies. A subset of representative screening tools for dementia was identified that covers as many cognitive functions as possible. How these screening tools overlap with each other (in terms of the cognitive domains being measured and the method used to assess them) was examined and a series of process-based approach (PBA) modifications for these overlapping features was proposed, so that the changes recommended in relation to one particular cognitive task could be extrapolated to other screening tools. It is expected that future versions of cognitive screening tests, modified using a PBA, will highlight the benefits of attending to qualitative features of test performance when trying to identify subtle features suggestive of MCI and/or dementia.

FOXI2: a possible gene contributing to ectodermal dysplasia.

PubMed

Kurban, Mazen; Zeineddine, Savo Bou; Hamie, Lamiaa; Safi, Remi; Abbas, Ossama; Kibbi, Abdul Ghani; Bitar, Fadi; Nemer, Georges

2017-12-01

Cardio-facio-cutaneous syndrome (CFC), Noonan syndrome (NS), and Costello syndrome are a group of diseases that belong to the RASopathies. The syndromes share clinical features making diagnosis a challenge. To investigate the phenotype and genotype of a 10-year-old Iraqi girl with overlapping features of CFC, NS, and Costello syndromes, with additional features of ectodermal dysplasia. DNA was examined by exome sequencing and protein expression by immunohistochemistry. Exome sequencing identified a mutation in the SOS1 gene and a de novo deletion in the FOXI2 gene which was neither present in the international databases, nor in 400 chromosomes from the same population. Based on immunohistochemical staining, FOXI2 was identified in the basal cell layer of the skin and overlapped with the expression of P63, a major player in ectodermal dysplasia. We therefore suggest screening for FOXI2 mutation in the setting of ectodermal features that are not associated with genes known to contribute to ectodermal dysplasia.

Exclusion of overlapping symptoms in DSM-5 mixed features specifier: heuristic diagnostic and treatment implications.

PubMed

Malhi, Gin S; Byrow, Yulisha; Outhred, Tim; Fritz, Kristina

2017-04-01

This article focuses on the controversial decision to exclude the overlapping symptoms of distractibility, irritability, and psychomotor agitation (DIP) with the introduction of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) mixed features specifier. In order to understand the placement of mixed states within the current classification system, we first review the evolution of mixed states. Then, using Kraepelin's original classification of mixed states, we compare and contrast his conceptualization with modern day definitions. The DSM-5 workgroup excluded DIP symptoms, arguing that they lack the ability to differentiate between manic and depressive states; however, accumulating evidence suggests that DIP symptoms may be core features of mixed states. We suggest a return to a Kraepelinian approach to classification-with mood, ideation, and activity as key axes-and reintegration of DIP symptoms as features that are expressed across presentations. An inclusive definition of mixed states is urgently needed to resolve confusion in clinical practice and to redirect future research efforts.

The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia.

PubMed

Leng, Yinglin; Liu, Yuhe; Fang, Xiaojing; Li, Yao; Yu, Lei; Yuan, Yun; Wang, Zhaoxia

2015-04-01

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes/Leigh (MELAS/LS) overlap syndrome is a mitochondrial disorder subtype with clinical and magnetic resonance imaging (MRI) features that are characteristic of both MELAS and Leigh syndrome (LS). Here, we report an MELAS/LS case presenting with cortical deafness and seizures. Cranial MRI revealed multiple lesions involving bilateral temporal lobes, the basal ganglia and the brainstem, which conformed to neuroimaging features of both MELAS and LS. Whole mitochondrial DNA (mtDNA) sequencing and PCR-RFLP revealed a de novo heteroplasmic m.10197 G > A mutation in the NADH dehydrogenase subunit 3 gene (ND3), which was predicted to cause an alanine to threonine substitution at amino acid 47. Although the mtDNA m.10197 G > A mutation has been reported in association with LS, Leber hereditary optic neuropathy and dystonia, it has never been linked with MELAS/LS overlap syndrome. Our patient therefore expands the phenotypic spectrum of the mtDNA m.10197 G > A mutation.

Thyroiditis: a Clinico-cytomorphological Study with a Reference to the Ethnic Groups of Northeast Regions of India.

PubMed

Kalita, Abhijit; Baruah, Ronica

2015-12-01

Definite clinico-cytological criterion is outlined for thyroid lesions. Fine needle aspiration cytology (FNAC) makes it easier to segregate cases of thyroiditis (Chronic lymphocytic thyroiditis/Hashimoto's thyroiditis-CLT/HT, and subacute thyroiditis-SAT) from other benign and malignant lesions of thyroid. The study was done for a period of 5½ years at a diagnostic centre in Guwahati. Patients underwent FNAC and smears were studied for cytomorphology. A correlation with clinical features and thyroid function, including antithyroid antibody estimation, was done, wherever possible. 792 thyroid lesions were encountered during the study, of which 213 (26.89 %) were cases of thyroiditis (70.43 % CLT/HT, 24.9 % SAT and 3.76 % having overlapping features of CLT/HT and SAT); 2 cases (0.9 %) of CLT showed suspicion of Non-Hodgkin's Lymphoma (NHL), which was confirmed on histopathology. 24 cases (11.26 %) belonged to different ethnic tribal groups of Northeast India. CLT/HT presented predominantly with diffuse thyroid enlargement, but 12 cases (8 % of CLT/HT cases) had nodular enlargement. Patients presented with predominantly hypothyroidism; however occasional hyperthyroid cases were also seen. SAT showed signs of inflammation and presented with hyperthyroidism. Overlap cases of CLT/HT and SAT showed combined clinico-cytomorphological features of both lesions. 37.5 % cases with overlapping features belonged to tribal communities. A rise in incidence of thyroiditis, particularly CLT/HT, was seen. Overlap features of CLT/HT and SAT was noticed in significant percentage. No bias was noticed amongst any specific tribal community. FNAC, coupled with clinico-serological study, helps to diagnose thyroiditis at early stage.

Comparative phenomenology of ataques de nervios, panic attacks, and panic disorder.

PubMed

Lewis-Fernández, Roberto; Guarnaccia, Peter J; Martínez, Igda E; Salmán, Ester; Schmidt, Andrew; Liebowitz, Michael

2002-06-01

This article examines a clinical sample of 66 Dominican and Puerto Rican subjects who reported ataques de nervios and also psychiatric disorder, and disentangles the phenomenological experiences of ataque de nervios, panic attacks, and panic disorder. In-depth cultural interviews assessed the symptomatic phenomenology of ataque episodes from the local perspective as well as in terms of key panic features, such as recurrence, rapid peaking of symptoms, and lack of provocation. Independent diagnostic assessments of panic attacks and disorder were also used to establish the phenomenological overlap between ataque and panic. Our findings indicate that 36 percent of ataques de nervios fulfill criteria for panic attacks and between 17 percent and 33 percent for panic disorder, depending on the overlap method used. The main features distinguishing ataques that fulfill panic criteria from ataques that do not include whether the episodes were provoked by an upsetting event in the person's life and the rapidity of crescendo of the actual attack. A key finding is that ataques often share individual phenomenological features with panic episodes, but that these features usually do not "run together" during the ataque experience. This confirms previous findings that ataque is a more inclusive construct than panic disorder. The importance of these findings for the clinical diagnosis and treatment of persons with ataques is discussed.

Clinical classification of 103 Japanese patients with Guillain-Barré syndrome.

PubMed

Wakerley, Benjamin R; Kokubun, N; Funakoshi, K; Nagashima, T; Hirata, K; Yuki, N

2016-10-15

Guillain-Barré syndrome (GBS) is the commonest cause of flaccid paralysis worldwide. Miller Fisher syndrome (MFS) is a variant of GBS characterized by ophthalmoplegia and ataxia. Together GBS and MFS form a continuum of discrete and overlapping subtypes, the frequency of which remains unknown. We retrospectively analysed the clinical features (antecedent symptoms, pattern of neurological weakness or ataxia, presence of hypersomnolence) of 103 patients at a single hospital in Japan. Patients were then classified according to new diagnostic criteria (Wakerley et al., 2014). Laboratory data (neurophysiology and anti-ganglioside antibody profiles) were also analysed. According to the new diagnostic criteria, the 103 patients could be classified as follows: classic GBS 73 (71%), pharyngeal-cervical-brachial weakness 2 (2%), acute pharyngeal weakness 0 (0%), paraparetic GBS 1 (1%), bifacial weakness with paraesthesias 1 (1%), polyneuritis cranialis 0 (0%), classic MFS 18 (17%), acute ophthalmoparesis 1 (1%), acute ptosis 0 (0%), acute mydriasis 0 (0%), acute ataxic neuropathy 1 (1%), Bickerstaff brainstem encephalitis 3 (3%), acute ataxic hypersomnolence 0 (0%), GBS and MFS overlap 1 (1%), GBS and Bickerstaff brainstem encephalitis overlap 1 (1%), MFS and pharyngeal-cervical-brachial weakness overlap 1 (1%). Application of the new clinical diagnostic criteria allowed accurate retrospective diagnosis and classification of GBS and MFS subtypes. Copyright © 2016. Published by Elsevier B.V.

Clinical and laboratory features of patients of Vietnamese descent with systemic lupus erythematosus.

PubMed

Phan, J C; Bush, T M; Donald, F; Ward, M

1999-01-01

The prevalence rate and disease manifestations of systemic lupus erythematosus (SLE) have been noted to vary among different ethnic groups. There has been no description in the English literature of SLE in the Vietnamese population. This is the first report, which details the clinical and laboratory features as well as an estimation of the prevalence of SLE in patients with a Vietnamese ancestry living in the United States. We performed a retrospective chart review of clinical and laboratory features of patients of Vietnamese descent with SLE. The case finding was performed by a review of the rheumatology clinic records at two large teaching hospitals in Santa Clara County searching for patients with SLE with a Vietnamese surname. In addition, we recruited patients by contacting all of the rheumatologists practicing in the county. Twenty-three patients of Vietnamese descent were identified with SLE in Santa Clara County. The estimated prevalence of SLE in the patients of Vietnamese descent was 42 cases per 100 000 persons. Eighty-seven per cent of the cases were born in Vietnam. The clinical and laboratory features of SLE were similar to prior published reviews except for a relatively high prevalence of anti-RNP antibody (54%). The patients with anti-RNP antibody exhibited features of overlap syndrome. There was a high rate of exposure to tuberculosis (TB). Fifty-eight per cent of patients had a positive purified protein derivative (PPD) skin test and 27% of patients had a history of clinical TB. Forty-four per cent of patients had evidence of hepatitis B exposure. The prevalence of SLE in the Vietnamese population in Santa Clara County is similar to that of other Asian populations. There was a relatively high prevalence of anti-RNP antibody in our patient group which was associated with overlap features. As expected in an immigrant population from Southeast Asia, there was a high rate of prior exposure to tuberculosis and hepatitis B. Clinicians should diligently screen for these infections and appropriately prophylaxe and treat patients.

Scleroderma renal crisis in a case of mixed connective tissue disease.

PubMed

Vij, Mukul; Agrawal, Vinita; Jain, Manoj

2014-07-01

Mixed connective tissue disease (MCTD) is an overlap syndrome first defined in 1972 by Sharp et al. In this original study, the portrait emerged of a connective tissue disorder sharing features of systemic lupus erythematosus, systemic sclerosis (scleroderma) and polymyositis. Scleroderma renal crisis (SRC) is an extremely infrequent but serious complication that can occur in MCTD. The histologic picture of SRC is that of a thrombotic micro-angiopathic process. Renal biopsy plays an important role in confirming the clinical diagnosis, excluding overlapping/superimposed diseases that might lead to acute renal failure in MCTD patients, helping to predict the clinical outcome and optimizing patient management. We herewith report a rare case of SRC in a patient with MCTD and review the relevant literature.

Cognition, Language, and Clinical Pathological Features of Non-Alzheimer's Dementias: An Overview

ERIC Educational Resources Information Center

Reilly, Jamie; Rodriguez, Amy D.; Lamy, Martine; Neils-Strunjas, Jean

2010-01-01

There are many distinct forms of dementia whose pharmacological and behavioral management differ. Differential diagnosis among the dementia variants currently relies upon a weighted combination of genetic and protein biomarkers, neuroanatomical integrity, and behavior. Diagnostic specificity is complicated by a high degree of overlap in the…

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

PubMed

Meester, Josephina A N; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut; Loeys, Bart L

2017-11-01

Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1 , coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2 , SMAD2/3 , or TGFB2/3 , all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal disease. The latest EDS nosology distinguishes 13 subtypes. Many phenotypic features show overlap between the different subtypes, which makes the clinical diagnosis rather difficult and highlights the importance of molecular diagnostic confirmation.

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

PubMed Central

Meester, Josephina A. N.; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut

2017-01-01

Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1, coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2, SMAD2/3, or TGFB2/3, all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal disease. The latest EDS nosology distinguishes 13 subtypes. Many phenotypic features show overlap between the different subtypes, which makes the clinical diagnosis rather difficult and highlights the importance of molecular diagnostic confirmation. PMID:29270370

A Newborn with Panhypopituitarism and Seizures.

PubMed

Kale, Trupti; Patil, Rachit; Pandit, Ramesh

2017-01-01

Interstitial deletions on the short arm of chromosome 20 are uncommon, and therefore the clinical phenotype is poorly defined. Very few cases have been reported in the literature so far. In this report, we describe a 4-month-old female with a heterozygous deletion at 20p11.21p12.1 with panhypopituitarism and cardiac, gastrointestinal, and genitourinary anomalies along with dysmorphic facial features. We compared and discussed similar cases with overlapping deletions in 20p11 region. We wish to report this rare occurrence as this may better define the phenotypes of the 20p interstitial deletion with certain dysmorphic features, multiorgan involvement, and related clinical characteristics in this patient population.

Selecting Feature Subsets Based on SVM-RFE and the Overlapping Ratio with Applications in Bioinformatics.

PubMed

Lin, Xiaohui; Li, Chao; Zhang, Yanhui; Su, Benzhe; Fan, Meng; Wei, Hai

2017-12-26

Feature selection is an important topic in bioinformatics. Defining informative features from complex high dimensional biological data is critical in disease study, drug development, etc. Support vector machine-recursive feature elimination (SVM-RFE) is an efficient feature selection technique that has shown its power in many applications. It ranks the features according to the recursive feature deletion sequence based on SVM. In this study, we propose a method, SVM-RFE-OA, which combines the classification accuracy rate and the average overlapping ratio of the samples to determine the number of features to be selected from the feature rank of SVM-RFE. Meanwhile, to measure the feature weights more accurately, we propose a modified SVM-RFE-OA (M-SVM-RFE-OA) algorithm that temporally screens out the samples lying in a heavy overlapping area in each iteration. The experiments on the eight public biological datasets show that the discriminative ability of the feature subset could be measured more accurately by combining the classification accuracy rate with the average overlapping degree of the samples compared with using the classification accuracy rate alone, and shielding the samples in the overlapping area made the calculation of the feature weights more stable and accurate. The methods proposed in this study can also be used with other RFE techniques to define potential biomarkers from big biological data.

Follicular carcinoma of the thyroid with hyperthyroidism. A case report.

PubMed

Sharma, Prashant; Kumar, Neeta; Gupta, Ruchika; Jain, Shyama

2004-01-01

Follicular carcinoma of the thyroid in association with hyperthyroidism is rare. The malignant lesion may remain occult for a long time. Certain clinical and cytologic features may be helpful in raising the alarm. An elderly male with a history of occupational exposure to X rays, long-standing toxic multinodular goiter and clinical hyperthyroidism presented with a rapidly enlarging mass in the neck. Cytologic smears showed a prominent microfollicular pattern, scanty colloid, anisonucleosis and nuclear overlapping. The noteworthy feature was the presence of marginal vacuoles. The cytologic diagnosis of follicular neoplasm with highly suggestive malignancy was made. Subsequently, multiple pulmonary nodules provided radiologic evidence of possible metastatic spread. This case report demonstrates the rare association of follicular carcinoma of the thyroid with hyperthyroidism and analyzes certain high-risk clinical and cytologic features to be considered in the follow-up of long-standing hyperfunctioning multinodular goiter.

Inclusion body myositis – pathomechanism and lessons from genetics

PubMed Central

Murnyák, Balázs; Bodoki, Levente; Vincze, Melinda; Griger, Zoltán; Csonka, Tamás; Szepesi, Rita; Kurucz, Andrea; Dankó, Katalin

2015-01-01

Inclusion body myositis is a rare, late-onset myopathy. Both inflammatory and myodegenerative features play an important role in their pathogenesis. Overlapping clinicopathological entities are the familial inclusion body myopathies with or without dementia. These myopathies share several clinical and pathological features with the sporadic inflammatory disease. Therefore, better understanding of the genetic basis and pathomechanism of these rare familial cases may advance our knowledge and enable more effective treatment options in sporadic IBM, which is currently considered a relentlessly progressive incurable disease. PMID:28352694

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

PubMed

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

2016-12-01

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

A Simplified Approach to Encephalitis and Its Mimics: Key Clinical Decision Points in the Setting of Specific Imaging Abnormalities.

PubMed

McKnight, Colin D; Kelly, Aine M; Petrou, Myria; Nidecker, Anna E; Lorincz, Matthew T; Altaee, Duaa K; Gebarski, Stephen S; Foerster, Bradley

2017-06-01

Infectious encephalitis is a relatively common cause of morbidity and mortality. Treatment of infectious encephalitis with antiviral medication can be highly effective when administered promptly. Clinical mimics of encephalitis arise from a broad range of pathologic processes, including toxic, metabolic, neoplastic, autoimmune, and cardiovascular etiologies. These mimics need to be rapidly differentiated from infectious encephalitis to appropriately manage the correct etiology; however, the many overlapping signs of these various entities present a challenge to accurate diagnosis. A systematic approach that considers both the clinical manifestations and the imaging findings of infectious encephalitis and its mimics can contribute to more accurate and timely diagnosis. Following an institutional review board approval, a health insurance portability and accountability act (HIPAA)-compliant search of our institutional imaging database (teaching files) was conducted to generate a list of adult and pediatric patients who presented between January 1, 1995 and October 10, 2013 for imaging to evaluate possible cases of encephalitis. Pertinent medical records, including clinical notes as well as surgical and pathology reports, were reviewed and correlated with imaging findings. Clinical and imaging findings were combined to generate useful flowcharts designed to assist in distinguishing infectious encephalitis from its mimics. Key imaging features were reviewed and were placed in the context of the provided flowcharts. Four flowcharts were presented based on the primary anatomic site of imaging abnormality: group 1: temporal lobe; group 2: cerebral cortex; group 3: deep gray matter; and group 4: white matter. An approach that combines features on clinical presentation was then detailed. Imaging examples were used to demonstrate similarities and key differences. Early recognition of infectious encephalitis is critical, but can be quite complex due to diverse pathologies and overlapping features. Synthesis of both the clinical and imaging features of infectious encephalitis and its mimics is critical to a timely and accurate diagnosis. The use of the flowcharts presented in this article can further enable both clinicians and radiologists to more confidently differentiate encephalitis from its mimics and improve patient care. Copyright © 2017 The Association of University Radiologists. Published by Elsevier Inc. All rights reserved.

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.

Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases

PubMed Central

Savic, Sinisa; Mistry, Anoop; Wilson, Anthony G; Barcenas-Morales, Gabriela; Doffinger, Rainer; Emery, Paul; McGonagle, Dennis

2017-01-01

At the population level, rheumatoid arthritis (RA) is generally viewed as autoimmune in nature with a small subgroup of cases having a palindromic form or systemic autoinflammatory disorder (SAID) phenotype. Herein, we describe resistant cases of classical autoantibody associated RA that had clinical, genetic and therapeutic responses indicative of coexistent autoinflammatory disease. Five patients with clinically overlapping features between RA and SAID including polysynovitis and autoantibody/shared epitope positivity, and who had abrupt severe self-limiting attacks including fevers and serositis, are described. Mutations or single nucleotide polymorphisms in recognised autoinflammatory pathways were evident. Generally, these cases responded poorly to conventional Disease-modifying anti-rheumatic drugs (DMARD) treatment with some excellent responses to colchicine or interleukin 1 pathway blockade. A subgroup of RA cases have a mixed autoimmune-autoinflammatory phenotype and genotype with therapeutic implications. PMID:29177082

Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases.

PubMed

Savic, Sinisa; Mistry, Anoop; Wilson, Anthony G; Barcenas-Morales, Gabriela; Doffinger, Rainer; Emery, Paul; McGonagle, Dennis

2017-01-01

At the population level, rheumatoid arthritis (RA) is generally viewed as autoimmune in nature with a small subgroup of cases having a palindromic form or systemic autoinflammatory disorder (SAID) phenotype. Herein, we describe resistant cases of classical autoantibody associated RA that had clinical, genetic and therapeutic responses indicative of coexistent autoinflammatory disease. Five patients with clinically overlapping features between RA and SAID including polysynovitis and autoantibody/shared epitope positivity, and who had abrupt severe self-limiting attacks including fevers and serositis, are described. Mutations or single nucleotide polymorphisms in recognised autoinflammatory pathways were evident. Generally, these cases responded poorly to conventional Disease-modifying anti-rheumatic drugs (DMARD) treatment with some excellent responses to colchicine or interleukin 1 pathway blockade. A subgroup of RA cases have a mixed autoimmune-autoinflammatory phenotype and genotype with therapeutic implications.

A Newborn with Panhypopituitarism and Seizures

PubMed Central

Patil, Rachit; Pandit, Ramesh

2017-01-01

Interstitial deletions on the short arm of chromosome 20 are uncommon, and therefore the clinical phenotype is poorly defined. Very few cases have been reported in the literature so far. In this report, we describe a 4-month-old female with a heterozygous deletion at 20p11.21p12.1 with panhypopituitarism and cardiac, gastrointestinal, and genitourinary anomalies along with dysmorphic facial features. We compared and discussed similar cases with overlapping deletions in 20p11 region. We wish to report this rare occurrence as this may better define the phenotypes of the 20p interstitial deletion with certain dysmorphic features, multiorgan involvement, and related clinical characteristics in this patient population. PMID:28255477

Overlapping Morphologic and Immunohistochemical Features of Hashimoto Thyroiditis and IgG4-Related Thyroid Disease.

PubMed

Raess, Philipp W; Habashi, Arlette; El Rassi, Edward; Milas, Mira; Sauer, David A; Troxell, Megan L

2015-05-01

Immunoglobulin G4-related disease (IgG4-RD) is an emerging clinicopathologic entity characterized by both IgG4+ plasma cell infiltration and fibrosis in one or more organs, prototypically pancreas or salivary/lacrimal glands. IgG4-RD in the thyroid (IgG4-RTD) is an area of active study, and the relationship between IgG4-RTD and Hashimoto thyroiditis is not fully delineated due to their overlapping histologic features. Retrospective review was performed of all thyroidectomy cases demonstrating lymphocytic inflammation at a single institution over a 4-year period. Approximately half (23/38) of patients had a clinical diagnosis of Hashimoto thyroiditis (HT). Nine of the 38 patients had increased absolute and relative numbers of IgG4+ plasma cells. Patients with a clinical diagnosis of HT had increased lymphoplasmacytic inflammation, but the relative proportion of IgG4+ plasma cells was not increased compared to patients without HT. There was no correlation between IgG4 levels and the amount of fibrosis in patients with or without HT. Patients identified as having the fibrosing variant of HT were not more likely to have increased levels of IgG4+ plasma cells than those without. There is significant morphologic and immunohistochemical overlap between HT and IgG4-RTD. Future studies to identify specific characteristics of IgG4-RTD involving the thyroid are necessary to accurately define this entity.

Dementia in motor neuron disease: Reviewing the role of MRI in diagnosis

PubMed Central

da Rocha, Antonio José; Nunes, Renato Hoffmann; Maia Jr., Antonio Carlos Martins

2015-01-01

The superimposed clinical features of motor neuron disease (MND) and frontotemporal dementia (FTD) comprise a distinct, yet not fully understood, neurological overlap syndrome whose clinicopathological basis has recently been reviewed. Here, we present a review of the clinical, pathological and genetic basis of MND-FTD and the role of MRI in its diagnosis. In doing so, we discuss current techniques that depict the involvement of the selective corticospinal tract (CST) and temporal lobe in MND-FTD. PMID:29213986

[Movement disorders is psychiatric diseases].

PubMed

Hidasi, Zoltan; Salacz, Pal; Csibri, Eva

2014-12-01

Movement disorders are common in psychiatry. The movement disorder can either be the symptom of a psychiatric disorder, can share a common aetiological factor with it, or can be the consequence of psychopharmacological therapy. Most common features include tic, stereotypy, compulsion, akathisia, dyskinesias, tremor, hypokinesia and disturbances of posture and gait. We discuss characteristics and clinical importance of these features. Movement disorders are frequently present in mood disorders, anxiety disorders, schizophrenia, catatonia, Tourette-disorder and psychogenic movement disorder, leading to differential-diagnostic and therapeutical difficulties in everyday practice. Movement disorders due to psychopharmacotherapy can be classified as early-onset, late-onset and tardive. Frequent psychiatric comorbidity is found in primary movement disorders, such as Parkinson's disease, Wilson's disease, Huntington's disease, diffuse Lewy-body disorder. Complex neuropsychiatric approach is effective concerning overlapping clinical features and spectrums of disorders in terms of movement disorders and psychiatric diseases.

Schizophrenia and epilepsy: is there a shared susceptibility?

PubMed

Cascella, Nicola G; Schretlen, David J; Sawa, Akira

2009-04-01

Individuals with epilepsy are at increased risk of having psychotic symptoms that resemble those of schizophrenia. More controversial and less searched is if schizophrenia is a risk factor for epilepsy. Here we review overlapping epidemiological, clinical, neuropathological and neuroimaging features of these two diseases. We discuss the role of temporal and other brain areas in the development of schizophrenia-like psychosis of epilepsy. We underline the importance of ventricular enlargement in both conditions as a phenotypic manifestation of a shared biologic liability that might relate to abnormalities in neurodevelopment. We suggest that genes implicated in neurodevelopment may play a common role in both conditions and speculate that recently identified causative genes for partial complex seizures with auditory features might help explain the pathophysiology of schizophrenia. These particularly include the leucine-rich glioma inactivated (LGI) family gene loci overlap with genes of interest for psychiatric diseases like schizophrenia. Finally, we conclude that LGI genes associated with partial epilepsy with auditory features might also represent genes of interest for schizophrenia, especially among patients with prominent auditory hallucinations and formal thought disorder.

Raising attention to attention deficit hyperactivity disorder in schizophrenia

PubMed Central

Pallanti, Stefano; Salerno, Luana

2015-01-01

Schizophrenia and attention deficit hyperactivity disorder (ADHD) are two psychiatric disorders with a negative impact on quality of life of individuals affected. Although they are classified into distinct disorders categories, attentional dysfunction is considered as a core feature in both conditions, either at the clinical then pathophysiological level. Beyond the obvious clinical overlap between these disorders, the Research Domain Criteria approach might offer an interesting perspective for disentangling common circuits underpinning both disorders. Hence, we review evidences regarding the overlap between schizophrenia and ADHD, at the clinical level, and at the level of underlying brain mechanisms. The evidence regarding the influence of environmental risk factors in the emergence of both disorders, and their developmental trajectories is also reviewed. Among these, we will try to elucidate the complex relationship between stimulants use and psychotic symptoms, discussing the potential role of ADHD medication in inducing psychosis or in exacerbating it. We aim that, taken together, these findings may promote further investigation with important implications both for clinicians and research. In fact, considering the amounting evidence on the overlap between schizophrenia and ADHD, the delineation of their boundaries might help in the decision for diagnosis and treatment. Moreover, it may help to promote interventions focused on the prevention of both schizophrenia and ADHD, by the reduction of recognized environmental risk factors. PMID:25815254

South Australian Scleroderma Register: analysis of deceased patients.

PubMed

Bond, C; Pile, K D; McNeil, J D; Ahern, M J; Smith, M D; Cleland, L G; Roberts-Thomson, P J

1998-11-01

The demographic, clinical, pathological and serological features of 123 decreased patients with systemic sclerosis have been analysed. These patients consisted of all identified patients dying with this disease in South Australia between 1983 and 1996 inclusive. There were 85 females and 38 males, with the ratio of limited:diffuse:overlap disease subset being 9:5:1. Disease characteristics revealed that patients with the limited disease tended to be female with high frequencies of the centromere autoantibody, while patients with the diffuse disease had equal gender representation with the frequent presence of nucleolar, speckled or homogeneous antinuclear antibody. Mean duration of disease and mean age of death for the limited:diffuse:overlap subsets differed significantly between groups (p < 0.05) and were 16.5, 9.3 and 10.9 years and 71.9, 57.8 and 52.8 years respectively. Cumulative survival curves for the subsets differed highly significantly, with patients with the limited diseases dying more commonly from right heart failure (documented terminally in 25% of the centromere positive limited subset), cardiovascular disease or cancer, while patients with the diffuse subset died from respiratory failure, renal failure or cardiovascular disease. In conclusion, this retrospective analysis has revealed that scleroderma is a relatively common but clinically heterogeneous disorder. There are important clinical and prognostic implications in defining limited versus diffuse versus overlap disease.

From High Intellectual Potential to Asperger Syndrome: Evidence for Differences and a Fundamental Overlap-A Systematic Review.

PubMed

Boschi, Aurélie; Planche, Pascale; Hemimou, Cherhazad; Demily, Caroline; Vaivre-Douret, Laurence

2016-01-01

Background: An increasing number of clinicians point to similar clinical features between some children with High Intellectual Potential (HIP or "Giftedness" = Total IQ > 2 SD ), and children with Autism Spectrum Disorder (ASD) without intellectual or language delay, formerly diagnosed with Asperger Syndrome. Some of these common features are social interaction impairments, special interests, and in some cases high-verbal abilities. The aim of this article is to determine whether these similarities exist at more fundamental levels, other than clinical, and to explore the literature in order to provide empirical support for an overlap between ASD and HIP. Method: First, comparative studies between ASD and HIP children were sought. Because of a lack of data, the respective characteristics of ASD and HIP subjects were explored by a cross-sectional review of different areas of research. Emphasis was placed on psychometric and cognitive evaluations, experimental and developmental assessments, and neurobiological research, following a "bottom-up" procedure. Results: This review highlights the existence of similarities in the neurocognitive, developmental and neurobiological domains between these profiles, which require further study. In addition, the conclusions of several studies show that there are differences between HIP children with a homogeneous Intellectual Quotient profile and children with a heterogeneous Intellectual Quotient profile. Conclusion: HIP seems to cover different developmental profiles, one of which might share features with ASD. A new line of investigation providing a possible starting-point for future research is proposed. Its implications, interesting from both clinical and research perspectives, are discussed.

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.

Mof-Tree: A Spatial Access Method To Manipulate Multiple Overlapping Features.

ERIC Educational Resources Information Center

Manolopoulos, Yannis; Nardelli, Enrico; Papadopoulos, Apostolos; Proietti, Guido

1997-01-01

Investigates the manipulation of large sets of two-dimensional data representing multiple overlapping features, and presents a new access method, the MOF-tree. Analyzes storage requirements and time with respect to window query operations involving multiple features. Examines both the pointer-based and pointerless MOF-tree representations.…

MCORES: a system for noun phrase coreference resolution for clinical records.

PubMed

Bodnari, Andreea; Szolovits, Peter; Uzuner, Özlem

2012-01-01

Narratives of electronic medical records contain information that can be useful for clinical practice and multi-purpose research. This information needs to be put into a structured form before it can be used by automated systems. Coreference resolution is a step in the transformation of narratives into a structured form. This study presents a medical coreference resolution system (MCORES) for noun phrases in four frequently used clinical semantic categories: persons, problems, treatments, and tests. MCORES treats coreference resolution as a binary classification task. Given a pair of concepts from a semantic category, it determines coreferent pairs and clusters them into chains. MCORES uses an enhanced set of lexical, syntactic, and semantic features. Some MCORES features measure the distance between various representations of the concepts in a pair and can be asymmetric. MCORES was compared with an in-house baseline that uses only single-perspective 'token overlap' and 'number agreement' features. MCORES was shown to outperform the baseline; its enhanced features contribute significantly to performance. In addition to the baseline, MCORES was compared against two available third-party, open-domain systems, RECONCILE(ACL09) and the Beautiful Anaphora Resolution Toolkit (BART). MCORES was shown to outperform both of these systems on clinical records.

[A case of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode/Leigh overlap syndrome].

PubMed

Matsui, Jun; Takano, Tomoyuki; Ryujin, Fukiko; Anzai, Yuko; Yoshioka, Seiichiro; Takeuchi, Yoshihiro; Goto, Yuichi

2014-09-01

We experienced a case in which mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) was identified as complications following the onset of Leigh syndrome along with a 10191 T>C mutation of the mitochondrial gene. The case pertains to a 26-year-old woman. The disease appeared when she was 11 years old due to divergent strabismus, at which point a diagnosis of juvenile Leigh syndrome was made. Many infraction images not conforming to the vessel region were observed upon a brain MRI which was performed at 26 years of age, thus leading to her being diagnosed with MELAS as a complication. Upoon bibliographical consideration, it was speculated that the clinical features of MELAS/Leigh overlap syndrome clearly differ from Leigh syndrome in terms of age of onset, symptoms, and prognosis. Pleiotropic genetic factors including heteroplasmy were presumed to be involved in the diverse phenotype of overlap syndrome.

European Dermatology Forum S1-guideline on the diagnosis and treatment of sclerosing diseases of the skin, Part 1: localized scleroderma, systemic sclerosis and overlap syndromes.

PubMed

Knobler, R; Moinzadeh, P; Hunzelmann, N; Kreuter, A; Cozzio, A; Mouthon, L; Cutolo, M; Rongioletti, F; Denton, C P; Rudnicka, L; Frasin, L A; Smith, V; Gabrielli, A; Aberer, E; Bagot, M; Bali, G; Bouaziz, J; Braae Olesen, A; Foeldvari, I; Frances, C; Jalili, A; Just, U; Kähäri, V; Kárpáti, S; Kofoed, K; Krasowska, D; Olszewska, M; Orteu, C; Panelius, J; Parodi, A; Petit, A; Quaglino, P; Ranki, A; Sanchez Schmidt, J M; Seneschal, J; Skrok, A; Sticherling, M; Sunderkötter, C; Taieb, A; Tanew, A; Wolf, P; Worm, M; Wutte, N J; Krieg, T

2017-09-01

The term 'sclerosing diseases of the skin' comprises specific dermatological entities, which have fibrotic changes of the skin in common. These diseases mostly manifest in different clinical subtypes according to cutaneous and extracutaneous involvement and can sometimes be difficult to distinguish from each other. The present guideline focuses on characteristic clinical and histopathological features, diagnostic scores and the serum autoantibodies most useful for differential diagnosis. In addition, current strategies in the first- and advanced-line therapy of sclerosing skin diseases are addressed in detail. Part 1 of this guideline provides clinicians with an overview of the diagnosis and treatment of localized scleroderma (morphea), and systemic sclerosis including overlap syndromes of systemic sclerosis with diseases of the rheumatological spectrum. © 2017 European Academy of Dermatology and Venereology.

Category inference as a function of correlational structure, category discriminability, and number of available cues.

PubMed

Lancaster, Matthew E; Shelhamer, Ryan; Homa, Donald

2013-04-01

Two experiments investigated category inference when categories were composed of correlated or uncorrelated dimensions and the categories overlapped minimally or moderately. When the categories minimally overlapped, the dimensions were strongly correlated with the category label. Following a classification learning phase, subsequent transfer required the selection of either a category label or a feature when one, two, or three features were missing. Experiments 1 and 2 differed primarily in the number of learning blocks prior to transfer. In each experiment, the inference of the category label or category feature was influenced by both dimensional and category correlations, as well as their interaction. The number of cues available at test impacted performance more when the dimensional correlations were zero and category overlap was high. However, a minimal number of cues were sufficient to produce high levels of inference when the dimensions were highly correlated; additional cues had a positive but reduced impact, even when overlap was high. Subjects were generally more accurate in inferring the category label than a category feature regardless of dimensional correlation, category overlap, or number of cues available at test. Whether the category label functioned as a special feature or not was critically dependent upon these embedded correlations, with feature inference driven more strongly by dimensional correlations.

Cockayne syndrome: Clinical features, model systems and pathways

PubMed Central

Karikkineth, Ajoy C.; Scheibye-Knudsen, Morten; Fivenson, Elayne; Croteau, Deborah L.; Bohr, Vilhelm A.

2016-01-01

Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1, 2 and 3) and complementation groups (CSA and CSB), and overlaps with xeroderma pigmentosum (XP). It has been considered a progeria, and many of the clinical features resemble accelerated aging. As such, the study of CS affords an opportunity to better understand the underlying mechanisms of aging. The molecular basis of CS has traditionally been considered to be due to defects in transcription and transcription-coupled nucleotide excision repair (TC-NER). However, recent work suggests that defects in base excision DNA repair and mitochondrial functions may also play key roles. This opens up the possibility of molecular interventions in CS, and by extrapolation, possibly in aging. PMID:27507608

A comparison of the clinical, haemodynamic and angiographic features in right ventricular endomyocardial fibrosis and Ebstein's anomaly of the tricuspid valve.

PubMed

Balakrishnan, K G; Sapru, R P; Sasidharan, K; Venkitachalam, C G

1982-01-01

The clinical, haemodynamic and angiographic features of 18 patients with right ventricular endomyocardial fibrosis (RVEMF) and 8 patients with Ebstein's anomaly of the tricuspid valve (EATV) have been compared. Diagnosis was confirmed by selective angiography. The position of the tricuspid annulus was identified from selective right ventricular angiograms and confirmed by selective right coronary angiography. In 83% of RVEMF patients the tricuspid annulus was displaced to the left of the spine. A false impression of displacement of the tricuspid leaflet can thus be created. However, a tricuspid leaflet displaced away from the tricuspid annulus was found only in patients with EATV. A considerable overlap exists between the wide spectrum of clinical presentations of the two conditions. Helpful distinguishing features that favour EATV were, the presence of a scratchy diastolic murmur and polyphasic QRS complexes in the ECG. Atrial fibrillation in the ECG, and myocardial calcification or pericardial effusion, whenever present, favour RVEMF.

Overlap Between Autism Spectrum Disorders and Attention Deficit Hyperactivity Disorder: Searching for Distinctive/Common Clinical Features.

PubMed

Craig, Francesco; Lamanna, Anna Linda; Margari, Francesco; Matera, Emilia; Simone, Marta; Margari, Lucia

2015-06-01

Recent studies support several overlapping traits between autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD), assuming the existence of a combined phenotype. The aim of our study was to evaluate the common or distinctive clinical features between ASD and ADHD in order to identify possible different phenotypes that could have a clinical value. We enrolled 181 subjects divided into four diagnostic groups: ADHD group, ASD group, ASD+ADHD group (that met diagnostic criteria for both ASD and ADHD), and control group. Intelligent quotient (IQ), emotional and behavior problems, ADHD symptoms, ASD symptoms, and adaptive behaviors were investigated through the following test: Wechsler Intelligence Scale for Children, Wechsler Preschool and Primary Scale of Intelligence or Leiter International Performances Scale Revised, Child Behavior Checklist, Conners' Rating Scales-Revised, SNAP-IV Rating Scale, the Social Communication Questionnaire, Vineland Adaptive Behavior Scales. The ASD+ADHD group differs from ADHD or ASD in some domains such as lower IQ mean level and a higher autistic symptoms severity. However, the ASD+ADHD group shares inattention and hyperactivity deficit and some emotional and behavior problems with the ADHD group, while it shares adaptive behavior impairment with ASD group. These findings provide a new understanding of clinical manifestation of ASD+ADHD phenotype, they may also inform a novel treatment target. © 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.

Does the concept of borderline personality features have clinical utility in childhood?

PubMed

Hawes, David J

2014-01-01

Phenotypic features of borderline personality disorder may first emerge during childhood, alongside symptoms of common externalizing and internalizing disorders. Children with these borderline personality features (BPF) are, therefore, likely to come into contact with clinical services prior to adolescence. This raises the question of whether BPF may be clinically informative with respect to the formulation and treatment of childhood psychopathology. BPF in late childhood appear to be highly heritable, while also predicted by environmental risk factors that overlap with those related to both externalizing and internalizing disorders. These risk factors include hostile parenting, maternal insensitivity to infant attachment cues, and early peer victimization, thereby implicating both family and peer processes that play out across early development. Children with BPF appear to be further characterized by social-cognitive factors including social perspective coordination deficits, a shame-prone self-concept, and hypermentalizing, which may represent potential therapeutic targets. Clinical research into the implications of BPF for the treatment of childhood psychopathology is a current priority. It is proposed that the research designs that have contributed to recent evidence for the clinical utility of childhood psychopathic traits may likewise aid in understanding the potential clinical utility of BPF in children.

Anaplasia in pilocytic astrocytoma predicts aggressive behavior.

PubMed

Rodriguez, Fausto J; Scheithauer, Bernd W; Burger, Peter C; Jenkins, Sarah; Giannini, Caterina

2010-02-01

The clinical significance of anaplastic features, a rare event in pilocytic astrocytoma (PA), is not fully established. We reviewed 34 PA with anaplastic features (Male = 21, Female = 13; median age 35 y, 5 to 75) among approximately 2200 PA cases (1.7%). Tumors were included which demonstrated brisk mitotic activity [at least 4 mitoses/10 high power fields (400 x )], in addition to hypercellularity and moderate-to-severe cytologic atypia, with or without necrosis. The tumors either had a PA precursor, coexistent (n = 14) (41%) or documented by previous biopsy (n = 10) (29%), or exhibited typical pilocytic features in an otherwise anaplastic astrocytoma (n = 10) (29%). Clinical features of neurofibromatosis type-1 were present in 24% and a history of radiation for PA precursor in 12%. Histologically, the anaplastic component was classified as pilocytic like (41%), small cell (32%), epithelioid (15%), or fibrillary (12%). Median MIB1 labeling index was 24.7% in the anaplastic component and 2.6% in the precursor, although overlapping values were present. Strong p53 staining (3+) was limited to areas with anaplasia (19%), with overlapping values for 1 and 2+ in areas without anaplasia. Median overall and progression-free survivals after diagnosis for the entire study group were 24 and 14 months, respectively. Overall and progression-free survivals were shorter in the setting of prior radiation for a PA precursor (P = 0.007, 0.028), increasing mitotic activity (P = 0.03, 0.02), and presence of necrosis (P = 0.02, 0.02), after adjusting for age and site. The biologic behavior of PAs with high-mitotic rates and those with necrosis paralleled that of St Anne-Mayo grades 2 and 3 diffuse astrocytomas, respectively. In summary, PA with anaplastic features exhibits a spectrum of morphologies and is associated with decreased survival when compared with typical PA.

A rare case of an aggressive osteoblastoma of the squamous temporal bone: a unique presentation with literature review.

PubMed

Mohanty, Sujata; Rani, Amita; Urs, A B; Dabas, Jitender

2014-10-01

Aggressive osteoblastoma is a rare osteoid tissue forming tumour commonly affecting the spine with predilection for the posterior elements. Calvarial involvement is extremely rare with only two reported cases in the literature. Due to its overlapping clinical, radiographic and histological features with ossifying fibroma, benign osteoblastoma and osteosarcoma, it is very difficult accurately to diagnose this lesion at an early stage. A rare case of an aggressive osteoblastoma of the squamous temporal bone in a young male is presented here which was misdiagnosed twice before reaching the final diagnosis by correlating clinical, radiographic and histopathological features. Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Recognition during recall failure: Semantic feature matching as a mechanism for recognition of semantic cues when recall fails.

PubMed

Cleary, Anne M; Ryals, Anthony J; Wagner, Samantha R

2016-01-01

Research suggests that a feature-matching process underlies cue familiarity-detection when cued recall with graphemic cues fails. When a test cue (e.g., potchbork) overlaps in graphemic features with multiple unrecalled studied items (e.g., patchwork, pitchfork, pocketbook, pullcork), higher cue familiarity ratings are given during recall failure of all of the targets than when the cue overlaps in graphemic features with only one studied target and that target fails to be recalled (e.g., patchwork). The present study used semantic feature production norms (McRae et al., Behavior Research Methods, Instruments, & Computers, 37, 547-559, 2005) to examine whether the same holds true when the cues are semantic in nature (e.g., jaguar is used to cue cheetah). Indeed, test cues (e.g., cedar) that overlapped in semantic features (e.g., a_tree, has_bark, etc.) with four unretrieved studied items (e.g., birch, oak, pine, willow) received higher cue familiarity ratings during recall failure than test cues that overlapped in semantic features with only two (also unretrieved) studied items (e.g., birch, oak), which in turn received higher familiarity ratings during recall failure than cues that did not overlap in semantic features with any studied items. These findings suggest that the feature-matching theory of recognition during recall failure can accommodate recognition of semantic cues during recall failure, providing a potential mechanism for conceptually-based forms of cue recognition during target retrieval failure. They also provide converging evidence for the existence of the semantic features envisaged in feature-based models of semantic knowledge representation and for those more concretely specified by the production norms of McRae et al. (Behavior Research Methods, Instruments, & Computers, 37, 547-559, 2005).

Depression in Parkinson's disease: impediments to recognition and treatment options.

PubMed

Poewe, W; Luginger, E

1999-01-01

By some estimates, nearly half of patients with PD also suffer depression. Because features of PD frequently overlap with typical manifestations of major affective disorder (or mild dysthymia), both diagnosis and treatment of this comorbidity are challenging. Some of these interactive features include cognitive and speech deficits and impairments in emotional expression (e.g., PD-related facial masking) or processing. Parkinsonian depression probably is caused by an independent abnormality rather than as a maladaptive response to disease, in that the degree of depression is not correlated with PD severity. Prognostically, depressive features (e.g., introversion, inflexibility) may represent a subtle premorbid state heralding the onset of PD or an accelerated cognitive decline thereafter. Therapeutic mainstays for parkinsonian depression include psychosocial counseling at the time of PD diagnosis (and during advanced stages of PD) as well as appropriate medication regimens, the relative clinical efficacy of which remain a matter of ongoing clinical inquiry: levodopa, dopamine agonists, selegilene, tricyclic antidepressants, and selective serotonin reuptake inhibitors). This review formulates a rational treatment algorithm to assist in clinical management of parkinsonian depression, an enormously complex clinical entity.

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.

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

PubMed

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

2009-12-01

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

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

PubMed

Slack, Graham W

2016-09-01

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

Efficient methods for overlapping group lasso.

PubMed

Yuan, Lei; Liu, Jun; Ye, Jieping

2013-09-01

The group Lasso is an extension of the Lasso for feature selection on (predefined) nonoverlapping groups of features. The nonoverlapping group structure limits its applicability in practice. There have been several recent attempts to study a more general formulation where groups of features are given, potentially with overlaps between the groups. The resulting optimization is, however, much more challenging to solve due to the group overlaps. In this paper, we consider the efficient optimization of the overlapping group Lasso penalized problem. We reveal several key properties of the proximal operator associated with the overlapping group Lasso, and compute the proximal operator by solving the smooth and convex dual problem, which allows the use of the gradient descent type of algorithms for the optimization. Our methods and theoretical results are then generalized to tackle the general overlapping group Lasso formulation based on the l(q) norm. We further extend our algorithm to solve a nonconvex overlapping group Lasso formulation based on the capped norm regularization, which reduces the estimation bias introduced by the convex penalty. We have performed empirical evaluations using both a synthetic and the breast cancer gene expression dataset, which consists of 8,141 genes organized into (overlapping) gene sets. Experimental results show that the proposed algorithm is more efficient than existing state-of-the-art algorithms. Results also demonstrate the effectiveness of the nonconvex formulation for overlapping group Lasso.

The performance of different classification criteria sets for spondyloarthritis in the worldwide ASAS-COMOSPA study.

PubMed

Bakker, Pauline; Moltó, Anna; Etcheto, Adrien; Van den Bosch, Filip; Landewé, Robert; van Gaalen, Floris; Dougados, Maxime; van der Heijde, Désirée

2017-05-16

In this study, we sought to compare the performance of spondyloarthritis (SpA) classification criteria sets in an international SpA cohort with patients included from five continents around the world. Data from the (ASAS) COMOrbidities in SPondyloArthritis (ASAS-COMOSPA) study were used. ASAS-COMOSPA is a multinational, cross-sectional study with consecutive patients diagnosed with SpA by rheumatologists worldwide. Patients were classified according to the European Spondyloarthropathy Study Group (ESSG), modified European Spondyloarthropathy Study Group (mESSG), Amor, modified Amor, Assessment of SpondyloArthritis international Society (ASAS) axial Spondyloarthritis (axSpA), ASAS peripheral spondyloarthritis (pSpA) and ClASsification criteria for Psoriatic Arthritis (CASPAR) criteria. Overlap between the classification criteria sets was assessed for patients with and without back pain. Furthermore, patients fulfilling different arms of the ASAS axSpA criteria (imaging arm, clinical arm, both arms) were compared on the presence of SpA features. A total of 3942 patients (5 continents, 26 countries) were included. The mean age was 43.6 years, 65.0% were male, 56.2% were human leucocyte antigen B27-positive and 64.4% had radiographic sacroiliitis (based on modified New York criteria). Of the patients, 85.5% were classified by the ASAS SpA criteria (87.7% ASAS axSpA, 12.3% ASAS pSpA). Fulfilment of the Amor, ESSG and CASPAR criteria was present in 83.3%, 88.4% and 21.6% of patients, respectively. Of the patients with back pain (n = 3227), most were classified by all three of Amor, ESSG and ASAS axSpA criteria (71.4%). Patients fulfilling the imaging arm and the clinical arm of the ASAS axSpA criteria had similar presentations of SpA features. In patients without back pain, overlap between classification criteria sets was seen, although to a lesser extent. Most patients with a clinical diagnosis of axial SpA in the worldwide ASAS-COMOSPA study fulfil several classification criteria sets, and a substantial overlap between different criteria sets is seen, which suggests a high level of credibility of the criteria. Large inter-regional differences in the fulfilment of classification criteria were not found. Patients fulfilling the clinical arm were remarkably similar to patients fulfilling the imaging arm with respect to the presence of most SpA features.

What is asthma-COPD overlap syndrome? Towards a consensus definition from a round table discussion.

PubMed

Sin, Don D; Miravitlles, Marc; Mannino, David M; Soriano, Joan B; Price, David; Celli, Bartolome R; Leung, Janice M; Nakano, Yasutaka; Park, Hye Yun; Wark, Peter A; Wechsler, Michael E

2016-09-01

Patients with asthma-chronic obstructive pulmonary disease overlap syndrome (ACOS) have been largely excluded from pivotal therapeutic trials and, as a result, its treatment remains poorly defined and lacking firm evidence. To date, there is no universally accepted definition of ACOS, which has made it difficult to understand its epidemiology or pathophysiology. Despite many uncertainties, there is emerging agreement that some of the key features of ACOS include persistent airflow limitation in symptomatic individuals 40 years of age and older, a well-documented history of asthma in childhood or early adulthood and a significant exposure history to cigarette or biomass smoke. In this perspective, we propose a case definition of ACOS that incorporates these key features in a parsimonious algorithm that may enable clinicians to better diagnose patients with ACOS and most importantly enable researchers to design therapeutic and clinical studies to elucidate its epidemiology and pathophysiology and to ascertain its optimal management strategies. Copyright ©ERS 2016.

Overlapping gene expression profiles indicative of antigen processing and the interferon pathway characterize inflammatory fibrotic skin diseases.

PubMed

Limpers, Annelies; van Royen-Kerkhof, Annet; van Roon, Joel A G; Radstake, Timothy R D J; Broen, Jasper C A

2014-02-01

Inflammatory fibrotic disorders have been of high interest both for dermatologists and rheumatologists. Although the phenotypic end stage of this group of diseases is ultimately the same, namely fibrosis, patients present with different clinical features and are often treated with distinct therapeutic modalities. This review addresses whether there is evidence for different underlying molecular pathways in the various inflammatory fibrotic diseases such as localized scleroderma, pediatric lichen sclerosus, adult lichen sclerosus, eosinophilic fasciitis and systemic sclerosis. To investigate this, a large number of gene expression microarray studies performed on skin or fibroblasts from patients with these aforementioned diseases were described, (re-)analysed, and compared. As suspected by the heterogeneous phenotype, most diseases showed unique gene expression features. Intriguingly, a clear overlap was observed between adult and pediatric lichen sclerosus and localized scleroderma, in antigen processing and the interferon pathway. Delineating the cause and consequence of these pathways may generate novel tools to better characterize and more effectively treat these patients.

Bipolar mixed features - Results from the comparative effectiveness for bipolar disorder (Bipolar CHOICE) study.

PubMed

Tohen, Mauricio; Gold, Alexandra K; Sylvia, Louisa G; Montana, Rebecca E; McElroy, Susan L; Thase, Michael E; Rabideau, Dustin J; Nierenberg, Andrew A; Reilly-Harrington, Noreen A; Friedman, Edward S; Shelton, Richard C; Bowden, Charles L; Singh, Vivek; Deckersbach, Thilo; Ketter, Terence A; Calabrese, Joseph R; Bobo, William V; McInnis, Melvin G

2017-08-01

DSM-5 changed the criteria from DSM-IV for mixed features in mood disorder episodes to include non-overlapping symptoms of depression and hypomania/mania. It is unknown if, by changing these criteria, the same group would qualify for mixed features. We assessed how those meeting DSM-5 criteria for mixed features compare to those meeting DSM-IV criteria. We analyzed data from 482 adult bipolar patients in Bipolar CHOICE, a randomized comparative effectiveness trial. Bipolar diagnoses were confirmed through the MINI International Neuropsychiatric Interview (MINI). Presence and severity of mood symptoms were collected with the Bipolar Inventory of Symptoms Scale (BISS) and linked to DSM-5 and DSM-IV mixed features criteria. Baseline demographics and clinical variables were compared between mood episode groups using ANOVA for continuous variables and chi-square tests for categorical variables. At baseline, the frequency of DSM-IV mixed episodes diagnoses obtained with the MINI was 17% and with the BISS was 20%. Using DSM-5 criteria, 9% of participants met criteria for hypomania/mania with mixed features and 12% met criteria for a depressive episode with mixed features. Symptom severity was also associated with increased mixed features with a high rate of mixed features in patients with mania/hypomania (63.8%) relative to those with depression (8.0%). Data on mixed features were collected at baseline only and thus do not reflect potential patterns in mixed features within this sample across the study duration. The DSM-5 narrower, non-overlapping definition of mixed episodes resulted in fewer patients who met mixed criteria compared to DSM-IV. Copyright © 2017. Published by Elsevier B.V.

An Exercise on Calibration: DRIFTS Study of Binary Mixtures of Calcite and Dolomite with Partially Overlapping Spectral Features

ERIC Educational Resources Information Center

De Lorenzi Pezzolo, Alessandra

2013-01-01

Unlike most spectroscopic calibrations that are based on the study of well-separated features ascribable to the different components, this laboratory experience is especially designed to exploit spectral features that are nearly overlapping. The investigated system consists of a binary mixture of two commonly occurring minerals, calcite and…

Molecular and clinical overlap of Angelman and Prader-Willi syndrome phenotypes.

PubMed

Kirkilionis, A J; Chudley, A E; Gregory, C A; Hamerton, J L

1991-09-15

The Prader-Willi (PWS) and Angelman syndromes (AS) share the same apparent cytogenetic and molecular lesions of 15q11-13 and yet exhibit distinct clinical phenotypes. The etiology of PWS or AS appears to depend on the parental origin of the aberrant chromosome 15. Substantial clinical overlap has not been reported between deletion-positive PWS and AS patients. In the present study, we report the clinical, cytogenetic, and molecular findings in three AS patients. The first patient is a mentally retarded woman with a visible deletion of 15q11-13 with typical craniofacial, behavioral, and neurologic changes of AS. This patient is hyperphagic, and she is moderately obese for her height. Her hands and feet are small. These manifestations are more characteristic of PWS and not of AS. The molecular studies showed deletions of maternal origin for five distal PWCR loci. The most proximal locus, D15S18, was not deleted. These findings are identical to those found in our third AS patient who does not have any PWS features. To the best of our knowledge, this is the first report of concurrence of hyperphagia with consequent obesity and the AS phenotype in a patient with a del 15(q11-13) of maternal origin. These clinical findings suggest that overlap in the symptoms of PWS and AS can occur. Our second AS patient presents with atypical molecular findings in that he cannot be classed into any of the three proposed sub-groups of AS patients and may be representative of a fourth sub-group of AS patients.

Soft-Tissue Sarcomas of the Abdomen and Pelvis: Radiologic-Pathologic Features, Part 2-Uncommon Sarcomas.

PubMed

Levy, Angela D; Manning, Maria A; Miettinen, Markku M

2017-01-01

Soft-tissue sarcomas occurring in the abdomen and pelvis are an uncommon but important group of malignancies. Recent changes to the World Health Organization classification of soft-tissue tumors include the movement of gastrointestinal stromal tumors (GISTs) into the soft-tissue tumor classification. GIST is the most common intraperitoneal sarcoma. Liposarcoma is the most common retroperitoneal sarcoma, and leiomyosarcoma is the second most common. GIST, liposarcoma, and leiomyosarcoma account for the majority of sarcomas encountered in the abdomen and pelvis and are discussed in part 1 of this article. Undifferentiated pleomorphic sarcoma (previously called malignant fibrous histiocytoma), dermatofibrosarcoma protuberans, solitary fibrous tumor, malignant peripheral nerve sheath tumor, rhabdomyosarcoma, extraskeletal chondro-osseous sarcomas, vascular sarcomas, and sarcomas of uncertain differentiation uncommonly arise in the abdomen and pelvis and the abdominal wall. Although these lesions are rare sarcomas and their imaging features overlap, familiarity with the locations where they occur and their imaging features is important so they can be diagnosed accurately. The anatomic location and clinical history are important factors in the differential diagnosis of these lesions because metastasis, more-common sarcomas, borderline fibroblastic proliferations (such as desmoid tumors), and endometriosis have imaging findings that overlap with those of these uncommon sarcomas. In this article, the clinical, pathologic, and imaging findings of uncommon soft-tissue sarcomas of the abdomen and pelvis and the abdominal wall are reviewed, with an emphasis on their differential diagnosis.

Soft-Tissue Sarcomas of the Abdomen and Pelvis: Radiologic-Pathologic Features, Part 2—Uncommon Sarcomas

PubMed Central

Manning, Maria A.; Miettinen, Markku M.

2017-01-01

Soft-tissue sarcomas occurring in the abdomen and pelvis are an uncommon but important group of malignancies. Recent changes to the World Health Organization classification of soft-tissue tumors include the movement of gastrointestinal stromal tumors (GISTs) into the soft-tissue tumor classification. GIST is the most common intraperitoneal sarcoma. Liposarcoma is the most common retroperitoneal sarcoma, and leiomyosarcoma is the second most common. GIST, liposarcoma, and leiomyosarcoma account for the majority of sarcomas encountered in the abdomen and pelvis and are discussed in part 1 of this article. Undifferentiated pleomorphic sarcoma (previously called malignant fibrous histiocytoma), dermatofibrosarcoma protuberans, solitary fibrous tumor, malignant peripheral nerve sheath tumor, rhabdomyosarcoma, extraskeletal chondro-osseous sarcomas, vascular sarcomas, and sarcomas of uncertain differentiation uncommonly arise in the abdomen and pelvis and the abdominal wall. Although these lesions are rare sarcomas and their imaging features overlap, familiarity with the locations where they occur and their imaging features is important so they can be diagnosed accurately. The anatomic location and clinical history are important factors in the differential diagnosis of these lesions because metastasis, more-common sarcomas, borderline fibroblastic proliferations (such as desmoid tumors), and endometriosis have imaging findings that overlap with those of these uncommon sarcomas. In this article, the clinical, pathologic, and imaging findings of uncommon soft-tissue sarcomas of the abdomen and pelvis and the abdominal wall are reviewed, with an emphasis on their differential diagnosis. PMID:28493803

De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.

PubMed

Webster, Emily; Cho, Megan T; Alexander, Nora; Desai, Sonal; Naidu, Sakkubai; Bekheirnia, Mir Reza; Lewis, Andrea; Retterer, Kyle; Juusola, Jane; Chung, Wendy K

2016-11-01

Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein ( PHIP ) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. A nonsense mutation in PHIP has previously been associated with similar clinical features. Patients with microdeletions of 6q14.1, including PHIP , have a similar phenotype of developmental delay, intellectual disability, hypotonia, and obesity, suggesting that the phenotype of our patients is a result of loss-of-function mutations. PHIP produces multiple protein products, such as PHIP1 (also known as DCAF14), PHIP, and NDRP. PHIP1 is one of the multiple substrate receptors of the proteolytic CUL4-DDB1 ubiquitin ligase complex. CUL4B deficiency has been associated with intellectual disability, central obesity, muscle wasting, and dysmorphic features. The overlapping phenotype associated with CUL4B deficiency suggests that PHIP mutations cause disease through disruption of the ubiquitin ligase pathway.

Recurrent granulomatous mastitis mimicking inflammatory breast cancer

PubMed Central

Ergin, Ahmet Bahadir; Cristofanilli, Massimo; Daw, Hamed; Tahan, Gulgun; Gong, Yun

2011-01-01

Granulomatous mastitis (GM) is an uncommon benign breast lesion. Diagnosis is a matter of exclusion from other inflammatory, infectious and granulomatous aetiologies. Here, we presented an atypical GM case, which had clinical and radiologic features overlapping with inflammatory breast cancer (IBC). The disease had multiple recurrences. The patient is a 40-year-old Caucasian woman with a sudden onset of left breast swelling accompanied by diffuse skin redness, especially of the subareolar region and malodorous yellow nipple discharge from the left nipple. The disease progressed on antibiotic treatment and recurred after local resection. A similar lesion developed even after bilateral mastectomy. GM may show clinical/radiologic features suggestive of IBC. Multiple recurrences can be occasionally encountered. GM after recurrence could be much more alarming clinically. Pathology confirmation is the key for accurate diagnosis and a multidisciplinary approach is important to rule out IBC. PMID:22715267

Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4.

PubMed

Orlacchio, A; Patrono, C; Gaudiello, F; Rocchi, C; Moschella, V; Floris, R; Bernardi, G; Kawarai, T

2008-05-20

To perform a clinical and genetic study of two large Italian families (RM-36 and RM-51) showing the cardinal clinical features of Silver syndrome (SS), a rare dominantly inherited form of hereditary spastic paraplegia (HSP) complicated by amyotrophy of the small hand muscles. Clinical assessment including neurophysiologic, neuropsychological, and neuroimaging evaluations. Genetic studies included linkage and sequence analyses. Using a genome-wide survey in the RM-36 family, a novel locus (SPG38) has been identified and mapped within the 13.1-cM region on chromosome 4p16-p15 between markers D4S432 and D4S1599. The RM-51 family was linked to the SPG4 locus at 2p21-p24 and sequence analysis of SPG4 showed a novel frameshift mutation p.Asp321GlyfsX6. Clinical examination of the affected members carrying the mutation showed high frequency of additional clinical features including decreased vibration sense, pes cavus, temporal lobe epilepsy, and cognitive impairment. This study demonstrates evidence of a novel locus SPG38 for Silver syndrome (SS) and suggests that genetic defects in SPG4 might lead to broad clinical features overlapped with those of SS.

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

PubMed

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

2017-05-01

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

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

PubMed

Campens, Laurence; Callewaert, Bert; Muiño Mosquera, Laura; Renard, Marjolijn; Symoens, Sofie; De Paepe, Anne; Coucke, Paul; De Backer, Julie

2015-02-03

Heritable Thoracic Aortic Disorders (H-TAD) may present clinically as part of a syndromic entity or as an isolated (nonsyndromic) manifestation. About one dozen genes are now available for clinical molecular testing. Targeted single gene testing is hampered by significant clinical overlap between syndromic H-TAD entities and the absence of discriminating features in isolated cases. Therefore panel testing of multiple genes has now emerged as the preferred approach. So far, no data on mutation detection rate with this technique have been reported. We performed Next Generation Sequencing (NGS) based screening of the seven currently most prevalent H-TAD-associated genes (FBN1, TGFBR1/2, TGFB2, SMAD3, ACTA2 and COL3A1) on 264 samples from unrelated probands referred for H-TAD and related entities. Patients fulfilling the criteria for Marfan syndrome (MFS) were only included if targeted FBN1 sequencing and MLPA analysis were negative. A mutation was identified in 34 patients (13%): 12 FBN1, one TGFBR1, two TGFBR2, three TGFB2, nine SMAD3, four ACTA2 and three COL3A1 mutations. We found mutations in FBN1 (N = 3), TGFBR2 (N = 1) and COL3A1 (N = 2) in patients without characteristic clinical features of syndromal H-TAD. Six TAD patients harboring a mutation in SMAD3 and one TAD patient with a TGFB2 mutation fulfilled the diagnostic criteria for MFS. NGS based H-TAD panel testing efficiently reveals a mutation in 13% of patients. Our observations emphasize the clinical overlap between patients harboring mutations in syndromic and nonsyndromic H-TAD related genes as well as within syndromic H-TAD entities, justifying a widespread application of this technique.

Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions

PubMed Central

Ashley, Claire N.; Hoang, Kelly D.; Lynch, David R.; Perlman, Susan L.; Maria, Bernard L.

2013-01-01

Childhood ataxia is characterized by impaired balance and coordination primarily due to cerebellar dysfunction. Friedreich ataxia, a form of childhood ataxia, is the most common multisystem autosomal recessive disease. Most of these patients are homozygous for the GAA repeat expansion located on the first intron of the frataxin gene on chromosome 9. Mutations in the frataxin gene impair mitochondrial function, increase reactive oxygen species, and trigger redistribution of iron in the mitochondria and cytosol. Targeted therapies for Friedreich ataxia are undergoing testing. In addition, a centralized database, patient registry, and natural history study have been launched to support clinical trials in Friedreich ataxia. The 2011 Neurobiology of Disease in Children symposium, held in conjunction with the 40th annual Child Neurology Society meeting, aimed to (1) describe clinical features surrounding Friedreich ataxia, including cardiomyopathy and genetics; (2) discuss recent advances in the understanding of the pathogenesis of Friedreich ataxia and developments of clinical trials; (3) review new investigations of characteristic symptoms; (4) establish clinical and biochemical overlaps in neurodegenerative diseases and possible directions for future basic, translational, and clinical studies. PMID:22859693

Cardio‐facio‐cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

PubMed Central

Nava, Caroline; Hanna, Nadine; Michot, Caroline; Pereira, Sabrina; Pouvreau, Nathalie; Niihori, Tetsuya; Aoki, Yoko; Matsubara, Yoichi; Arveiler, Benoit; Lacombe, Didier; Pasmant, Eric; Parfait, Béatrice; Baumann, Clarisse; Héron, Delphine; Sigaudy, Sabine; Toutain, Annick; Rio, Marlène; Goldenberg, Alice; Leheup, Bruno; Verloes, Alain; Cavé, Hélène

2007-01-01

Cardio‐facio‐cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello syndrome (CS) are clinically related developmental disorders that have been recently linked to mutations in the RAS/MEK/ERK signalling pathway. This study was a mutation analysis of the KRAS, BRAF, MEK1 and MEK2 genes in a total of 130 patients (40 patients with a clinical diagnosis of CFC, 20 patients without HRAS mutations from the French Costello family support group, and 70 patients with NS without PTPN11 or SOS1 mutations). BRAF mutations were found in 14/40 (35%) patients with CFC and 8/20 (40%) HRAS‐negative patients with CS. KRAS mutations were found in 1/40 (2.5%) patients with CFC, 2/20 (10%) HRAS‐negative patients with CS and 4/70 patients with NS (5.7%). MEK1 mutations were found in 4/40 patients with CFC (10%), 4/20 (20%) HRAS‐negative patients with CS and 3/70 (4.3%) patients with NS, and MEK2 mutations in 4/40 (10%) patients with CFC. Analysis of the major phenotypic features suggests significant clinical overlap between CS and CFC. The phenotype associated with MEK mutations seems less severe, and is compatible with normal mental development. Features considered distinctive for CS were also found to be associated with BRAF or MEK mutations. Because of its particular cancer risk, the term “Costello syndrome” should only be used for patients with proven HRAS mutation. These results confirm that KRAS is a minor contributor to NS and show that MEK is involved in some cases of NS, demonstrating a phenotypic continuum between the clinical entities. Although some associated features appear to be characteristic of a specific gene, no simple rule exists to distinguish NS from CFC easily. PMID:17704260

Occlusal factors are not related to self-reported bruxism.

PubMed

Manfredini, Daniele; Visscher, Corine M; Guarda-Nardini, Luca; Lobbezoo, Frank

2012-01-01

To estimate the contribution of various occlusal features of the natural dentition that may identify self-reported bruxers compared to nonbruxers. Two age- and sex-matched groups of self-reported bruxers (n = 67) and self-reported nonbruxers (n = 75) took part in the study. For each patient, the following occlusal features were clinically assessed: retruded contact position (RCP) to intercuspal contact position (ICP) slide length (< 2 mm was considered normal), vertical overlap (< 0 mm was considered an anterior open bite; > 4 mm, a deep bite), horizontal overlap (> 4 mm was considered a large horizontal overlap), incisor dental midline discrepancy (< 2 mm was considered normal), and the presence of a unilateral posterior crossbite, mediotrusive interferences, and laterotrusive interferences. A multiple logistic regression model was used to identify the significant associations between the assessed occlusal features (independent variables) and self-reported bruxism (dependent variable). Accuracy values to predict self-reported bruxism were unacceptable for all occlusal variables. The only variable remaining in the final regression model was laterotrusive interferences (P = .030). The percentage of explained variance for bruxism by the final multiple regression model was 4.6%. This model including only one occlusal factor showed low positive (58.1%) and negative predictive values (59.7%), thus showing a poor accuracy to predict the presence of self-reported bruxism (59.2%). This investigation suggested that the contribution of occlusion to the differentiation between bruxers and nonbruxers is negligible. This finding supports theories that advocate a much diminished role for peripheral anatomical-structural factors in the pathogenesis of bruxism.

Phyllodes tumours of the breast: a consensus review

PubMed Central

Tan, Benjamin Y; Acs, Geza; Apple, Sophia K; Badve, Sunil; Bleiweiss, Ira J; Brogi, Edi; Calvo, José P; Dabbs, David J; Ellis, Ian O; Eusebi, Vincenzo; Farshid, Gelareh; Fox, Stephen B; Ichihara, Shu; Lakhani, Sunil R; Rakha, Emad A; Reis-Filho, Jorge S; Richardson, Andrea L; Sahin, Aysegul; Schmitt, Fernando C; Schnitt, Stuart J; Siziopikou, Kalliopi P; Soares, Fernando A; Tse, Gary M; Vincent-Salomon, Anne; Tan, Puay Hoon

2016-01-01

Phyllodes tumours constitute an uncommon but complex group of mammary fibroepithelial lesions. Accurate and reproducible grading of these tumours has long been challenging, owing to the need to assess multiple stratified histological parameters, which may be weighted differently by individual pathologists. Distinction of benign phyllodes tumours from cellular fibroadenomas is fraught with difficulty, due to overlapping microscopic features. Similarly, separation of the malignant phyllodes tumour from spindle cell metaplastic carcinoma and primary breast sarcoma can be problematic. Phyllodes tumours are treated by surgical excision. However, there is no consensus on the definition of an appropriate surgical margin to ensure completeness of excision and reduction of recurrence risk. Interpretive subjectivity, overlapping histological diagnostic criteria, suboptimal correlation between histological classification and clinical behaviour and the lack of robust molecular predictors of outcome make further investigation of the pathogenesis of these fascinating tumours a matter of active research. This review consolidates the current understanding of their pathobiology and clinical behaviour, and includes proposals for a rational approach to the classification and management of phyllodes tumours. PMID:26768026

BRAIN TUMOR SEGMENTATION WITH SYMMETRIC TEXTURE AND SYMMETRIC INTENSITY-BASED DECISION FORESTS.

PubMed

Bianchi, Anthony; Miller, James V; Tan, Ek Tsoon; Montillo, Albert

2013-04-01

Accurate automated segmentation of brain tumors in MR images is challenging due to overlapping tissue intensity distributions and amorphous tumor shape. However, a clinically viable solution providing precise quantification of tumor and edema volume would enable better pre-operative planning, treatment monitoring and drug development. Our contributions are threefold. First, we design efficient gradient and LBPTOP based texture features which improve classification accuracy over standard intensity features. Second, we extend our texture and intensity features to symmetric texture and symmetric intensity which further improve the accuracy for all tissue classes. Third, we demonstrate further accuracy enhancement by extending our long range features from 100mm to a full 200mm. We assess our brain segmentation technique on 20 patients in the BraTS 2012 dataset. Impact from each contribution is measured and the combination of all the features is shown to yield state-of-the-art accuracy and speed.

[A method for the analysis of overlapped peaks in the high performance liquid chromatogram based on spectrum analysis].

PubMed

Liu, Bao; Fan, Xiaoming; Huo, Shengnan; Zhou, Lili; Wang, Jun; Zhang, Hui; Hu, Mei; Zhu, Jianhua

2011-12-01

A method was established to analyse the overlapped chromatographic peaks based on the chromatographic-spectra data detected by the diode-array ultraviolet detector. In the method, the three-dimensional data were de-noised and normalized firstly; secondly the differences and clustering analysis of the spectra at different time points were calculated; then the purity of the whole chromatographic peak were analysed and the region were sought out in which the spectra of different time points were stable. The feature spectra were extracted from the spectrum-stable region as the basic foundation. The nonnegative least-square method was chosen to separate the overlapped peaks and get the flow curve which was based on the feature spectrum. The three-dimensional divided chromatographic-spectrum peak could be gained by the matrix operations of the feature spectra with the flow curve. The results displayed that this method could separate the overlapped peaks.

Serotonin syndrome versus neuroleptic malignant syndrome: a challenging clinical quandary

PubMed Central

Dosi, Rupal; Ambaliya, Annirudh; Joshi, Harshal; Patell, Rushad

2014-01-01

Serotonin syndrome and neuroleptic malignant syndrome are two drug toxidromes that have often overlapping and confusing clinical pictures. We report a case of a young man who presented with alteration of mental status, autonomic instability and neuromuscular hyperexcitability following ingestion of multiple psychiatric and antiepileptic medications. The patient satisfied criteria for serotonin syndrome and neuroleptic malignant syndrome, and based on the characteristic clinical features, laboratory findings and clinical course it was concluded that the patient had both toxidromes. The patient was managed with cyproheptadine and supportive measures, and recovered over the course of 3 weeks. A brief review of literature highlighting the diagnostic clues as well as the importance of recognising and distinguishing the often missed and confounding diagnoses follows. PMID:24957740

Irritability is associated with anxiety and greater severity, but not bipolar spectrum features, in major depressive disorder

PubMed Central

Perlis, Roy H.; Fava, Maurizio; Trivedi, Madhukar H.; Alpert, Jonathan; Luther, James F.; Wisniewski, Stephen R.; Rush, A. John

2009-01-01

Objective Irritability is common during major depressive episodes, but its clinical significance and overlap with symptoms of anxiety or bipolar disorder remains unclear. We examined clinical correlates of irritability in a confirmatory cohort of Sequenced Treatment Alternatives to Relieve Depression (STAR*D) study participants with major depressive disorder (MDD). Method Logistic regression was used to identify features associated with presence of irritability on the clinician-rated Inventory of Depressive Symptomatology. Results Of 2,307 study participants, 1067(46%) reported irritability at least half the time during the preceding week; they were more likely to be female, to be younger, to experience greater depression severity and anxiety, and to report poorer quality of life, prior suicide attempts, and suicidal ideation. Bipolar spectrum features were not more common among those with irritability. Conclusion Irritable depression is not a distinct subtype of MDD, but irritability is associated with greater overall severity, anxiety comorbidity, and suicidality. PMID:19207123

Asthma-COPD overlap syndrome-Coexistence of chronic obstructive pulmonary disease and asthma in elderly patients and parameters for their differentiation.

PubMed

Tochino, Yoshihiro; Asai, Kazuhisa; Shuto, Taichi; Hirata, Kazuto

2017-03-01

Japan is an aging society, and the number of elderly patients with asthma and chronic obstructive pulmonary disease (COPD) is consequently increasing, with an estimated incidence of approximately 5 million. In 2014, asthma-COPD overlap syndrome (ACOS) was defined by a joint project of Global Initiative for Asthma (GINA) committee and the Global Initiative for Chronic Obstructive Lung Disease (GOLD) committee. The main aims of this consensus-based document are to assist clinicians, especially those in primary care or nonpulmonary specialties. In this article, we discussed parameters to differentiate asthma and COPD in elderly patients and showed prevalence, clinical features and treatment of ACOS on the basis of the guidelines of GINA and GOLD. Furthermore, we showed also referral for specialized investigations.

Image segmentation using joint spatial-intensity-shape features: application to CT lung nodule segmentation

NASA Astrophysics Data System (ADS)

Ye, Xujiong; Siddique, Musib; Douiri, Abdel; Beddoe, Gareth; Slabaugh, Greg

2009-02-01

Automatic segmentation of medical images is a challenging problem due to the complexity and variability of human anatomy, poor contrast of the object being segmented, and noise resulting from the image acquisition process. This paper presents a novel feature-guided method for the segmentation of 3D medical lesions. The proposed algorithm combines 1) a volumetric shape feature (shape index) based on high-order partial derivatives; 2) mean shift clustering in a joint spatial-intensity-shape (JSIS) feature space; and 3) a modified expectation-maximization (MEM) algorithm on the mean shift mode map to merge the neighboring regions (modes). In such a scenario, the volumetric shape feature is integrated into the process of the segmentation algorithm. The joint spatial-intensity-shape features provide rich information for the segmentation of the anatomic structures or lesions (tumors). The proposed method has been evaluated on a clinical dataset of thoracic CT scans that contains 68 nodules. A volume overlap ratio between each segmented nodule and the ground truth annotation is calculated. Using the proposed method, the mean overlap ratio over all the nodules is 0.80. On visual inspection and using a quantitative evaluation, the experimental results demonstrate the potential of the proposed method. It can properly segment a variety of nodules including juxta-vascular and juxta-pleural nodules, which are challenging for conventional methods due to the high similarity of intensities between the nodules and their adjacent tissues. This approach could also be applied to lesion segmentation in other anatomies, such as polyps in the colon.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

PubMed

O'Rawe, Jason A; Wu, Yiyang; Dörfel, Max J; Rope, Alan F; Au, P Y Billie; Parboosingh, Jillian S; Moon, Sungjin; Kousi, Maria; Kosma, Konstantina; Smith, Christopher S; Tzetis, Maria; Schuette, Jane L; Hufnagel, Robert B; Prada, Carlos E; Martinez, Francisco; Orellana, Carmen; Crain, Jonathan; Caro-Llopis, Alfonso; Oltra, Silvestre; Monfort, Sandra; Jiménez-Barrón, Laura T; Swensen, Jeffrey; Ellingwood, Sara; Smith, Rosemarie; Fang, Han; Ospina, Sandra; Stegmann, Sander; Den Hollander, Nicolette; Mittelman, David; Highnam, Gareth; Robison, Reid; Yang, Edward; Faivre, Laurence; Roubertie, Agathe; Rivière, Jean-Baptiste; Monaghan, Kristin G; Wang, Kai; Davis, Erica E; Katsanis, Nicholas; Kalscheuer, Vera M; Wang, Edith H; Metcalfe, Kay; Kleefstra, Tjitske; Innes, A Micheil; Kitsiou-Tzeli, Sophia; Rosello, Monica; Keegan, Catherine E; Lyon, Gholson J

2015-12-03

We describe an X-linked genetic syndrome associated with mutations in TAF1 and manifesting with global developmental delay, intellectual disability (ID), characteristic facial dysmorphology, generalized hypotonia, and variable neurologic features, all in male individuals. Simultaneous studies using diverse strategies led to the identification of nine families with overlapping clinical presentations and affected by de novo or maternally inherited single-nucleotide changes. Two additional families harboring large duplications involving TAF1 were also found to share phenotypic overlap with the probands harboring single-nucleotide changes, but they also demonstrated a severe neurodegeneration phenotype. Functional analysis with RNA-seq for one of the families suggested that the phenotype is associated with downregulation of a set of genes notably enriched with genes regulated by E-box proteins. In addition, knockdown and mutant studies of this gene in zebrafish have shown a quantifiable, albeit small, effect on a neuronal phenotype. Our results suggest that mutations in TAF1 play a critical role in the development of this X-linked ID syndrome. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

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

PubMed

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

2014-01-01

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

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.

The Co-Existence of Myasthenia Gravis in Patients with Myositis: A Case Series

PubMed Central

Paik, Julie J.; Corse, Andrea M.; Mammen, Andrew L.

2014-01-01

Objective Myositis and myasthenia gravis (MG) are both autoimmune disorders presenting with muscle weakness. Rarely, they occur simultaneously in the same patient. Since the management of myasthenia gravis differs from that of myositis, it is important to recognize when patients have both diseases. We reviewed the cases of 6 patients with both myositis and MG to identify clinical features that suggest the possibility of co-existing MG in myositis patients. Methods We identified 6 patients with dermatomyositis or polymyositis and MG. We reviewed their medical records to assess their clinical presentations, laboratory findings, and electrophysiological features. Results All 6 patients had definite dermatomyositis or polymyositis by the criteria of Bohan and Peter as well as electrophysiologic and/or serologic confirmation of MG. Among overlap patients, 5/6 (83%) had bulbar weakness, 2/6 (33%) had ptosis, and 1/6 (17%) had diplopia. Fatigable weakness was noted by 5/6 (83%) patients. Treatment with pyridostigmine improved symptoms in 5/6 (83%). High dose steroids were associated with worsening weakness in 2/6 (33%) patients. Conclusions Prominent bulbar symptoms, ptosis, diplopia, and fatigable weakness should suggest the possibility of MG in patients with myositis. A suspicion of MG may be confirmed through appropriate electrophysiologic and laboratory testing. In those with myositis-MG overlap, high dose steroids may exacerbate symptoms and pryidostigmine may play an important therapeutic role. PMID:24412588

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

PubMed Central

2013-01-01

Background Molecular diagnostics can resolve locus heterogeneity underlying clinical phenotypes that may otherwise be co-assigned as a specific syndrome based on shared clinical features, and can associate phenotypically diverse diseases to a single locus through allelic affinity. Here we describe an apparently novel syndrome, likely caused by de novo truncating mutations in ASXL3, which shares characteristics with Bohring-Opitz syndrome, a disease associated with de novo truncating mutations in ASXL1. Methods We used whole-genome and whole-exome sequencing to interrogate the genomes of four subjects with an undiagnosed syndrome. Results Using genome-wide sequencing, we identified heterozygous, de novo truncating mutations in ASXL3, a transcriptional repressor related to ASXL1, in four unrelated probands. We found that these probands shared similar phenotypes, including severe feeding difficulties, failure to thrive, and neurologic abnormalities with significant developmental delay. Further, they showed less phenotypic overlap with patients who had de novo truncating mutations in ASXL1. Conclusion We have identified truncating mutations in ASXL3 as the likely cause of a novel syndrome with phenotypic overlap with Bohring-Opitz syndrome. PMID:23383720

Interference due to shared features between action plans is influenced by working memory span.

PubMed

Fournier, Lisa R; Behmer, Lawrence P; Stubblefield, Alexandra M

2014-12-01

In this study, we examined the interactions between the action plans that we hold in memory and the actions that we carry out, asking whether the interference due to shared features between action plans is due to selection demands imposed on working memory. Individuals with low and high working memory spans learned arbitrary motor actions in response to two different visual events (A and B), presented in a serial order. They planned a response to the first event (A) and while maintaining this action plan in memory they then executed a speeded response to the second event (B). Afterward, they executed the action plan for the first event (A) maintained in memory. Speeded responses to the second event (B) were delayed when it shared an action feature (feature overlap) with the first event (A), relative to when it did not (no feature overlap). The size of the feature-overlap delay was greater for low-span than for high-span participants. This indicates that interference due to overlapping action plans is greater when fewer working memory resources are available, suggesting that this interference is due to selection demands imposed on working memory. Thus, working memory plays an important role in managing current and upcoming action plans, at least for newly learned tasks. Also, managing multiple action plans is compromised in individuals who have low versus high working memory spans.

Stones, bones, and heredity.

PubMed

Milliner, Dawn S

2006-07-01

Genetic disorders of mineral metabolism cause urolithiasis, renal disease, and osteodystrophy. Most are rare, such that the full spectrum of clinical expression is difficult to appreciate. Diagnosis is further complicated by overlap of clinical features. Dent's disease and primary hyperoxaluria, inherited causes of calcium urolithiasis, are both associated with nephrocalcinosis and urolithiasis in early childhood and renal failure that can occur at any age but is seen more often in adulthood. Bone disease is an inconsistent feature of each. Dent's disease is caused by mutations of the CLCN-5 gene with impaired kidney-specific CLC-5 chloride channel expression in the proximal tubule, thick ascending limb of Henle, and the collecting ducts. Resulting hypercalciuria and proximal tubule dysfunction, including phosphate wasting, are primarily responsible for the clinical manifestations. Low-molecular-weight proteinuria is characteristic. Definitive diagnosis is made by DNA mutation analysis. Primary hyperoxaluria, type I, is due to mutations of the AGXT gene leading to deficient hepatic alanine-glyoxylate aminotransferase activity. Marked overproduction of oxalate by hepatic cells results in the hyperoxaluria responsible for clinical features. Definitive diagnosis is by liver biopsy with measurement of enzyme activity, with DNA mutation analysis used increasingly as mutations and their frequency are defined. These disorders of calcium urolithiasis illustrate the value of molecular medicine for diagnosis and the promise it provides for innovative and more effective future treatments.

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.

Juvenile polyarteritis nodosa associated with toxoplasmosis presenting as Kawasaki disease.

PubMed

Başaran, Özge; Çakar, Nilgün; Gür, Gökçe; Kocabaş, Abdullah; Gülhan, Belgin; Çaycı, Fatma Şemsa; Çelikel, Banu Acar

2014-04-01

Polyarteritis nodosa (PAN) is a vasculitis characterized by inflammatory necrosis of medium-sized arteries. Juvenile PAN and Kawasaki disease (KD) both cause vasculitis of the medium-sized arteries, and share common features. They have overlapping clinical features. Treatment should be managed according to the severity of symptoms and persistence of clinical manifestations. Herein is described the case of a 14-year-old boy first diagnosed with KD, who then fulfilled the criteria for juvenile PAN due to the development of severe myalgia, persistent fever, polyneuropathy and coronary arterial dilatation. He also had acute toxoplasmosis at the onset of vasculitis symptoms. The final diagnosis was of juvenile PAN associated with toxoplasmosis infection. Toxoplasma infection can be considered as an etiological agent for PAN and other vasculitis syndromes. Awareness of toxoplasmosis-related PAN facilitates early diagnosis, and instigation of appropriate treatment. © 2014 The Authors. Pediatrics International © 2014 Japan Pediatric Society.

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features.

PubMed

Cyr, Andrew B; Nimmakayalu, Manjunath; Longmuir, Susannah Q; Patil, Shivanand R; Keppler-Noreuil, Kim M; Shchelochkov, Oleg A

2011-09-01

Larger imbalances on chromosome 4p in the form of deletions associated with Wolf-Hirschhorn syndrome (WHS) and duplications of chromosome 4p have a defined clinical phenotype. The critical region for both these clinical disorders has been narrowed based on the genotype-phenotype correlations. However, cryptic rearrangements in this region have been reported infrequently. We report on a male patient with a microduplication of chromosome 4p, who presents with findings of macrocephaly, irregular iris pigmentation-heterochromia, and preserved linear growth in addition to overlapping features of trisomy 4p such as seizures, delayed psychomotor development, and dysmorphic features including prominent glabella, low-set ears, and short neck. Using a high-density oligonucleotide microarray, we have identified a novel submicroscopic duplication involving dosage sensitive genes TACC3, FGFR3, and LETM1. The microduplication did not involve WHSC1 and WHSC2 which are considered in the critical region for WHS and trisomy 4p. This patient's presentation and genomic findings help further delineate clinical significance of re-arrangements in the 4p16 region without the involvement of WHS critical region. Copyright © 2011 Wiley-Liss, Inc.

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

PubMed

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

2016-08-01

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

Granulomatous lobular mastitis.

PubMed

Going, J J; Anderson, T J; Wilkinson, S; Chetty, U

1987-05-01

The clinical and pathological features of nine cases of granulomatous mastitis were compared with those of 10 cases of duct ectasia/periductal mastitis (DE/PM), all of which were associated with active granulomatous inflammation. Granulomatous mastitis affects a younger age group, and although there is some overlap with DE/PM, it has distinctive pathological features, particularly a lobule centred distribution, for which the term "granulomatous lobular mastitis" is recommended. There is a strong tendency for persistence or recurrence. Our cases of granulomatous mastitis all occurred in parous women, five of them within three years of pregnancy. Awareness of this condition is important, because surgery does not offer the best treatment of recurrent disease, and trials of adequate drug treatment, including corticosteroids, are required.

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.

PubMed

Thiffault, Isabelle; Saunders, Carol; Jenkins, Janda; Raje, Nikita; Canty, Kristi; Sharma, Mukta; Grote, Lauren; Welsh, Holly I; Farrow, Emily; Twist, Greyson; Miller, Neil; Zwick, David; Zellmer, Lee; Kingsmore, Stephen F; Safina, Nicole P

2015-05-07

Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage, often leading to immunodeficiency, growth retardation and increased risk of malignancy. We performed exome sequencing on a girl with a suspected chromosome instability syndrome that manifested as growth retardation, microcephaly, developmental delay, dysmorphic features, poikiloderma, immune deficiency with pancytopenia, and myelodysplasia. She was homozygous for a previously reported splice variant, c.4444 + 3A > G in the POLE1 gene, which encodes the catalytic subunit of DNA polymerase E. This is the second family with POLE1-deficency, with the affected individual demonstrating a more severe phenotype than previously described.

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.

PubMed

Tsang, Erica; Rupps, Rosemarie; McGillivray, Barbara; Eydoux, Patrice; Marra, Marco; Arbour, Laura; Langlois, Sylvie; Friedman, Jan M; Zahir, Farah R

2012-10-01

[Bonnet et al. (2010); J Med Genet 47: 377-384] recently suggested a 4q21 microdeletion syndrome with several common features, including severe intellectual disability, lack of speech, hypotonia, significant growth restriction, and distinctive facial features. Overlap of the deleted regions of 13 patients, including a patient we previously reported, delineates a critical region, with PRKG2 and RASGEF1B emerging as candidate genes. Here we provide a detailed clinical report and photographic life history of our previously reported patient. Previous case reports of this new syndrome have not described the prognosis or natural history of these patients. Copyright © 2012 Wiley Periodicals, Inc.

Validation of the French Autism Spectrum Quotient scale and its relationships with schizotypy and Eysenckian personality traits.

PubMed

Sierro, Guillaume; Rossier, Jérôme; Mohr, Christine

2016-07-01

Autism and schizophrenia spectra were long considered distinct entities. Yet, recent studies emphasized overlapping clinical and personality features suggesting common mechanisms and liabilities. Independent notions, however, highlight that the two spectra oppose each other socially (positive schizotypal hyper-mentalism versus autistic hypo-mentalism). To clarify these relationships, we used data from 921 French-speaking Swiss undergraduates to firstly validate the French Autism Spectrum Questionnaire (AQ) identifying an optimal factor structure. Secondly, we assessed relationships between this AQ structure and schizotypic personality traits. Results from correlational and principal component analyses replicated both overlapping and opposing relationships. We conjecture that autistic traits opposing positive schizotypy represent autistic mentalizing deficits. We discuss implications of our findings relative to theories of autism and schizophrenia spectrum relationships. Copyright © 2016 Elsevier Inc. All rights reserved.

How does the 'rest-self overlap' mediate the qualitative and automatic features of self-reference?

PubMed

Northoff, Georg

2016-01-01

The target article points out the qualitative and automatic features of self-reference while leaving open the underlying neural mechanisms. Based on empirical evidence about rest-self overlap and rest-stimulus interaction being special for self-related stimuli, I postulate that the resting state shows self-specific organization. The resting state's self-specific organization may be encoded by activity balances between different networks which in turn predispose the qualitative features of subsequent self-related stimulus-induced activity in, for instance, SAN as well as the automatic features of self-reference effects.

The Common Inversion of the Williams–Beuren Syndrome Region at 7q11.23 Does Not Cause Clinical Symptoms

PubMed Central

Tam, Elaine; Young, Edwin J.; Morris, Colleen A.; Marshall, Christian R.; Loo, Wayne; Scherer, Stephen W.; Mervis, Carolyn B.; Osborne, Lucy R.

2010-01-01

Williams–Beuren syndrome (WBS) is caused by a ~1.5 million base pair deletion at 7q11.23. A common inversion of the region, WBSinv-1, exists as a polymorphism but was also found in individuals with WBS-like features but no deletion, suggesting it could cause clinical symptoms. We performed a full clinical, developmental and genetic assessment of two previously reported individuals with clinical symptoms and WBSinv-1 but no 7q11.23 deletion. We also examined expression of genes at 7q11.23 in individuals in the general population who have WBSinv-1. We show that individuals with clinical symptoms and WBSinv-1 do not show significant clinical or psychological overlap with individuals with WBS. In addition, a 1.3 Mb duplication of part of the velocardiofacial syndrome region on chromosome 22q11.2 was found in one participant with WBSinv-1 and clinical symptoms. We also demonstrate that individuals with WBSinv-1 show normal expression of genes from the WBS region. These results suggest that WBSinv-1 does not cause clinical symptoms and we advise caution when diagnosing individuals with atypical presentation of rare syndromes. Whole genome analysis may reveal previously unidentified copy number variants that could contribute to syndromic features. PMID:18553513

Proposing an adaptive mutation to improve XCSF performance to classify ADHD and BMD patients

NASA Astrophysics Data System (ADS)

Sadatnezhad, Khadijeh; Boostani, Reza; Ghanizadeh, Ahmad

2010-12-01

There is extensive overlap of clinical symptoms observed among children with bipolar mood disorder (BMD) and those with attention deficit hyperactivity disorder (ADHD). Thus, diagnosis according to clinical symptoms cannot be very accurate. It is therefore desirable to develop quantitative criteria for automatic discrimination between these disorders. This study is aimed at designing an efficient decision maker to accurately classify ADHD and BMD patients by analyzing their electroencephalogram (EEG) signals. In this study, 22 channels of EEGs have been recorded from 21 subjects with ADHD and 22 individuals with BMD. Several informative features, such as fractal dimension, band power and autoregressive coefficients, were extracted from the recorded signals. Considering the multimodal overlapping distribution of the obtained features, linear discriminant analysis (LDA) was used to reduce the input dimension in a more separable space to make it more appropriate for the proposed classifier. A piecewise linear classifier based on the extended classifier system for function approximation (XCSF) was modified by developing an adaptive mutation rate, which was proportional to the genotypic content of best individuals and their fitness in each generation. The proposed operator controlled the trade-off between exploration and exploitation while maintaining the diversity in the classifier's population to avoid premature convergence. To assess the effectiveness of the proposed scheme, the extracted features were applied to support vector machine, LDA, nearest neighbor and XCSF classifiers. To evaluate the method, a noisy environment was simulated with different noise amplitudes. It is shown that the results of the proposed technique are more robust as compared to conventional classifiers. Statistical tests demonstrate that the proposed classifier is a promising method for discriminating between ADHD and BMD patients.

Proposing an adaptive mutation to improve XCSF performance to classify ADHD and BMD patients.

PubMed

Sadatnezhad, Khadijeh; Boostani, Reza; Ghanizadeh, Ahmad

2010-12-01

There is extensive overlap of clinical symptoms observed among children with bipolar mood disorder (BMD) and those with attention deficit hyperactivity disorder (ADHD). Thus, diagnosis according to clinical symptoms cannot be very accurate. It is therefore desirable to develop quantitative criteria for automatic discrimination between these disorders. This study is aimed at designing an efficient decision maker to accurately classify ADHD and BMD patients by analyzing their electroencephalogram (EEG) signals. In this study, 22 channels of EEGs have been recorded from 21 subjects with ADHD and 22 individuals with BMD. Several informative features, such as fractal dimension, band power and autoregressive coefficients, were extracted from the recorded signals. Considering the multimodal overlapping distribution of the obtained features, linear discriminant analysis (LDA) was used to reduce the input dimension in a more separable space to make it more appropriate for the proposed classifier. A piecewise linear classifier based on the extended classifier system for function approximation (XCSF) was modified by developing an adaptive mutation rate, which was proportional to the genotypic content of best individuals and their fitness in each generation. The proposed operator controlled the trade-off between exploration and exploitation while maintaining the diversity in the classifier's population to avoid premature convergence. To assess the effectiveness of the proposed scheme, the extracted features were applied to support vector machine, LDA, nearest neighbor and XCSF classifiers. To evaluate the method, a noisy environment was simulated with different noise amplitudes. It is shown that the results of the proposed technique are more robust as compared to conventional classifiers. Statistical tests demonstrate that the proposed classifier is a promising method for discriminating between ADHD and BMD patients.

Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?

PubMed Central

Allanson, Judith E; Annerén, Göran; Aoki, Yoki; Armour, Christine M; Bondeson, Marie-Louise; Cave, Helene; Gripp, Karen W; Kerr, Bronwyn; Nystrom, Anna-Maja; Sol-Church, Katia; Verloes, Alain; Zenker, Martin

2011-01-01

Cardio-facio-cutaneous syndrome is a sporadic multiple congenital anomalies/mental retardation condition principally caused by mutations in BRAF, MEK1, and MEK2. Mutations in KRAS and SHOC2 lead to a phenotype with overlapping features. In approximately 10–30% of individuals with a clinical diagnosis of cardio-facio-cutaneous, a mutation in one of these causative genes is not found. Cardinal features of cardio-facio-cutaneous include congenital heart defects, a characteristic facial appearance, and ectodermal abnormalities. Additional features include failure to thrive with severe feeding problems, moderate to severe intellectual disability and short stature with relative macrocephaly. First described in 1986, more than 100 affected individuals are reported. Following the discovery of the causative genes, more information has emerged on the breadth of clinical features. Little, however, has been published on genotype-phenotype correlations. This clinical study of 186 children and young adults with mutation-proven cardio-facio-cutaneous syndrome is the largest reported to date. BRAF mutations are documented in 140 individuals (~75%), while 46 (~25%) have a mutation in MEK 1 or MEK 2. The age range is 6 months to 32 years, the oldest individual being a female from the original report [Reynolds et al., 1986]. While some clinical data on 136 are in the literature, fifty are not previously published. We provide new details of the breadth of phenotype and discuss the frequency of particular features in each genotypic group. Pulmonary stenosis is the only anomaly that demonstrates a statistically significant genotype-phenotype correlation, being more common in individuals with a BRAF mutation. PMID:21495173

Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

PubMed

Allanson, Judith E; Annerén, Göran; Aoki, Yoki; Armour, Christine M; Bondeson, Marie-Louise; Cave, Helene; Gripp, Karen W; Kerr, Bronwyn; Nystrom, Anna-Maja; Sol-Church, Katia; Verloes, Alain; Zenker, Martin

2011-05-15

Cardio-facio-cutaneous (CFC) syndrome is a sporadic multiple congenital anomalies/mental retardation condition principally caused by mutations in BRAF, MEK1, and MEK2. Mutations in KRAS and SHOC2 lead to a phenotype with overlapping features. In approximately 10–30% of individuals with a clinical diagnosis of CFC, a mutation in one of these causative genes is not found. Cardinal features of CFC include congenital heart defects, a characteristic facial appearance, and ectodermal abnormalities. Additional features include failure to thrive with severe feeding problems, moderate to severe intellectual disability and short stature with relative macrocephaly. First described in 1986, more than 100 affected individuals are reported. Following the discovery of the causative genes, more information has emerged on the breadth of clinical features. Little, however, has been published on genotype–phenotype correlations. This clinical study of 186 children and young adults with mutation-proven CFC syndrome is the largest reported to date. BRAF mutations are documented in 140 individuals (approximately 75%), while 46 (approximately 25%) have a mutation in MEK 1 or MEK 2. The age range is 6 months to 32 years, the oldest individual being a female from the original report [Reynolds et al. (1986); Am J Med Genet 25:413–427]. While some clinical data on 136 are in the literature, 50 are not previously published. We provide new details of the breadth of phenotype and discuss the frequency of particular features in each genotypic group. Pulmonary stenosis is the only anomaly that demonstrates a statistically significant genotype–phenotype correlation, being more common in individuals with a BRAF mutation.

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.

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

PubMed Central

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

2017-01-01

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

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

Differentiating cognitive impairment due to corticobasal degeneration and Alzheimer disease.

PubMed

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

2017-03-28

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

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

PubMed

Revah-Politi, Anya; Ganapathi, Mythily; Bier, Louise; Cho, Megan T; Goldstein, David B; Hemati, Parisa; Iglesias, Alejandro; Juusola, Jane; Pappas, John; Petrovski, Slavé; Wilson, Ashley L; Aggarwal, Vimla S; Anyane-Yeboa, Kwame

2017-12-01

The association between 1p32-p31 contiguous gene deletions and a distinct phenotype that includes anomalies of the corpus callosum, ventriculomegaly, developmental delay, seizures, and dysmorphic features has been long recognized and described. Recently, the observation of overlapping phenotypes in patients with chromosome translocations that disrupt NFIA (Nuclear factor I/A), a gene within this deleted region, and NFIA intragenic deletions has led to the hypothesis that NFIA is a critical gene within this region. The wide application and increasing accessibility of whole exome sequencing (WES) has helped identify new cases to support this hypothesis. Here, we describe four patients with loss-of-function variants in the NFIA gene identified through WES. The clinical presentation of these patients significantly overlaps with the phenotype described in previously reported cases of 1p32-p31 deletion syndrome, NFIA gene disruptions and intragenic NFIA deletions. Our cohort includes a mother and daughter as well as an unrelated individual who share the same nonsense variant (c.205C>T, p.Arg69Ter; NM_001145512.1). We also report a patient with a frameshift NFIA variant (c.159_160dupCC, p.Gln54ProfsTer49). We have compared published cases of 1p32-p31 microdeletion syndrome, translocations resulting in NFIA gene disruption, intragenic deletions, and loss-of-function mutations (including our four patients) to reveal that abnormalities of the corpus callosum, ventriculomegaly/hydrocephalus, macrocephaly, Chiari I malformation, dysmorphic features, developmental delay, hypotonia, and urinary tract defects are common findings. The consistent overlap in clinical presentation provides further evidence of the critical role of NFIA haploinsufficiency in the development of the 1p32-p31 microdeletion syndrome phenotype. © 2017 Wiley Periodicals, Inc.

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

PubMed Central

Willemsen, Marjolein H; Fernandez, Bridget A; Bacino, Carlos A; Gerkes, Erica; de Brouwer, Arjan PM; Pfundt, Rolph; Sikkema-Raddatz, Birgit; Scherer, Stephen W; Marshall, Christian R; Potocki, Lorraine; van Bokhoven, Hans; Kleefstra, Tjitske

2010-01-01

The clinical use of array comparative genomic hybridization in the evaluation of patients with multiple congenital anomalies and/or mental retardation has recently led to the discovery of a number of novel microdeletion and microduplication syndromes. We present four male patients with overlapping molecularly defined de novo microdeletions of 16q24.3. The clinical features observed in these patients include facial dysmorphisms comprising prominent forehead, large ears, smooth philtrum, pointed chin and wide mouth, variable cognitive impairment, autism spectrum disorder, structural anomalies of the brain, seizures and neonatal thrombocytopenia. Although deletions vary in size, the common region of overlap is only 90 kb and comprises two known genes, Ankyrin Repeat Domain 11 (ANKRD11) (MIM 611192) and Zinc Finger 778 (ZNF778), and is located approximately 10 kb distally to Cadherin 15 (CDH15) (MIM 114019). This region is not found as a copy number variation in controls. We propose that these patients represent a novel and distinctive microdeletion syndrome, characterized by autism spectrum disorder, variable cognitive impairment, facial dysmorphisms and brain abnormalities. We suggest that haploinsufficiency of ANKRD11 and/or ZNF778 contribute to this phenotype and speculate that further investigation of non-deletion patients who have features suggestive of this 16q24.3 microdeletion syndrome might uncover other mutations in one or both of these genes. PMID:19920853

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

Milatovich, A.; Becker, T.; Kaufman, A.

There have been 15 reports in the literature of patients with microphthalmia and linear skin defects (MLS) who have deletions of the distal region of the short arm of the X chromosome, Xp22.3-pter. Since there appears to be some overlap of features between MLS, Goltz and Aicardi syndromes, it has been suggested that these syndromes represent a contiguous gene syndrome. At least three individuals have been reported with t(X;Y) and some common clinical features. We have seen a female infant with several anterior chamber anomalies including microcornea and sclerocornea, who also has an unbalanced translocation between the X and Ymore » chromosomes, 46,X,der(X)t(X;Y) (p22.3;q11.2). Q-banding and fluorescence in situ hybridization (FISH) with a Y chromosome cocktail (Oncor) confirmed the identity of this derivative chromosome. X-inactivation studies done by RBG-banding showed that the der(X) is preferentially inactivated in all 50 metaphase cells examined from PHA-stimulated lymphocytes. It is likely some gene(s) on the distal Xp do not escape inactivation and when deleted result in anterior chamber abnormalities. X-inactivation patterns may be different in different tissues or at different times during development. Molecular studies will be helpful in determining what gene(s) are actually deleted in this case. This case is important because the clinical findings are limited to the development of the eyes and may help to define the critical regions and/or minimum region of overlap among MLS, Goltz and Aicardi syndromes.« less

A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency.

PubMed

Fox, Robin; Ealing, John; Murphy, Helen; Gow, David P; Gosal, David

2016-09-01

DNA methyltransferase 1 (DNMT1) is an enzyme which has a role in methylation of DNA, gene regulation, and chromatin stability. Missense mutations in the DNMT1 gene have been previously associated with two neurological syndromes: hereditary sensory and autonomic neuropathy type 1 with dementia and deafness (HSAN1E) and autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). We report a case showing overlap of both of these syndromes plus associated clinical features of common variable immune deficiency, scleroderma, and endocrinopathy that could also be mutation associated. Our patient was found to be heterozygous for a previously unreported frameshift mutation, c.1635_1637delCAA p.(Asn545del) in the DNMT1 gene exon 20. This case displays both the first frameshift mutation described in the literature which is associated with a phenotype with a high degree of overlap between HSAN1E and ADCA-DN and early age of onset (c. 8 years). Our case is also of interest as the patient displays a number of new non-neurological features, which could also be DNMT1 mutation related. © 2016 Peripheral Nerve Society.

High-Precision Registration of Point Clouds Based on Sphere Feature Constraints.

PubMed

Huang, Junhui; Wang, Zhao; Gao, Jianmin; Huang, Youping; Towers, David Peter

2016-12-30

Point cloud registration is a key process in multi-view 3D measurements. Its precision affects the measurement precision directly. However, in the case of the point clouds with non-overlapping areas or curvature invariant surface, it is difficult to achieve a high precision. A high precision registration method based on sphere feature constraint is presented to overcome the difficulty in the paper. Some known sphere features with constraints are used to construct virtual overlapping areas. The virtual overlapping areas provide more accurate corresponding point pairs and reduce the influence of noise. Then the transformation parameters between the registered point clouds are solved by an optimization method with weight function. In that case, the impact of large noise in point clouds can be reduced and a high precision registration is achieved. Simulation and experiments validate the proposed method.

High-Precision Registration of Point Clouds Based on Sphere Feature Constraints

PubMed Central

Huang, Junhui; Wang, Zhao; Gao, Jianmin; Huang, Youping; Towers, David Peter

2016-01-01

Point cloud registration is a key process in multi-view 3D measurements. Its precision affects the measurement precision directly. However, in the case of the point clouds with non-overlapping areas or curvature invariant surface, it is difficult to achieve a high precision. A high precision registration method based on sphere feature constraint is presented to overcome the difficulty in the paper. Some known sphere features with constraints are used to construct virtual overlapping areas. The virtual overlapping areas provide more accurate corresponding point pairs and reduce the influence of noise. Then the transformation parameters between the registered point clouds are solved by an optimization method with weight function. In that case, the impact of large noise in point clouds can be reduced and a high precision registration is achieved. Simulation and experiments validate the proposed method. PMID:28042846

Stimulus-response correspondence effect as a function of temporal overlap between relevant and irrelevant information processing.

PubMed

Wang, Dong-Yuan Debbie; Richard, F Dan; Ray, Brittany

2016-01-01

The stimulus-response correspondence (SRC) effect refers to advantages in performance when stimulus and response correspond in dimensions or features, even if the common features are irrelevant to the task. Previous research indicated that the SRC effect depends on the temporal course of stimulus information processing. The current study investigated how the temporal overlap between relevant and irrelevant stimulus processing influences the SRC effect. In this experiment, the irrelevant stimulus (a previously associated tone) preceded the relevant stimulus (a coloured rectangle). The irrelevant and relevant stimuli onset asynchrony was varied to manipulate the temporal overlap between the irrelevant and relevant stimuli processing. Results indicated that the SRC effect size varied as a quadratic function of the temporal overlap between the relevant stimulus and irrelevant stimulus. This finding extends previous experimental observations that the SRC effect size varies in an increasing or decreasing function with reaction time. The current study demonstrated a quadratic function between effect size and the temporal overlap.

Insight into resolution enhancement in generalized two-dimensional correlation spectroscopy.

PubMed

Ma, Lu; Sikirzhytski, Vitali; Hong, Zhenmin; Lednev, Igor K; Asher, Sanford A

2013-03-01

Generalized two-dimensional correlation spectroscopy (2D-COS) can be used to enhance spectral resolution in order to help differentiate highly overlapped spectral bands. Despite the numerous extensive 2D-COS investigations, the origin of the 2D spectral resolution enhancement mechanism(s) is not completely understood. In the work here, we studied the 2D-COS of simulated spectra in order to develop new insights into the dependence of 2D-COS spectral features on the overlapping band separations, their intensities and bandwidths, and their band intensity change rates. We found that the features in the 2D-COS maps that are derived from overlapping bands were determined by the spectral normalized half-intensities and the total intensity changes of the correlated bands. We identified the conditions required to resolve overlapping bands. In particular, 2D-COS peak resolution requires that the normalized half-intensities of a correlating band have amplitudes between the maxima and minima of the normalized half-intensities of the overlapping bands.

Insight into Resolution Enhancement in Generalized Two-Dimensional Correlation Spectroscopy

PubMed Central

Ma, Lu; Sikirzhytski, Vitali; Hong, Zhenmin; Lednev, Igor K.; Asher, Sanford A.

2014-01-01

Generalized two-dimensional correlation spectroscopy (2D COS) can be used to enhance spectral resolution in order to help differentiate highly overlapped spectral bands. Despite the numerous extensive 2D COS investigations, the origin of the 2D spectral resolution enhancement mechanism(s) are not completely understood. In the work here we studied the 2D COS of simulated spectra in order to develop new insights into the dependence of the 2D COS spectral features on the overlapping band separations, their intensities and bandwidths, and their band intensity change rates. We find that the features in the 2D COS maps that derive from overlapping bands are determined by the spectral normalized half-intensities and the total intensity changes of the correlated bands. We identify the conditions required to resolve overlapping bands. In particular, 2D COS peak resolution requires that the normalized half-intensities of a correlating band have amplitudes between the maxima and minima of the normalized half-intensities of the overlapping bands. PMID:23452492

[MCTD--mixed connective tissue disease].

PubMed

Haustein, Uwe-Frithjof

2005-02-01

Mixed connective tissue disease is a disease entity characterized by overlapping symptoms of lupus erythematosus (LE), systemic sclerosis (SSc), polymyositis/dermatomyositis (PM/DM) and rheumatoid arthritis (RA). Diagnostic criteria include high titers of antibodies against U1RNP as well as the presence of at least 3 of 5 of the following clinical features: edema of hands, synovitis, myositis, Raynaud phenomenon and acroscierosis. In terms of the pathogenesis, genetic as well as infectious (viral) factors appear to play a role. The acceptance of MCTD as a distinct disease entity is controversial. Terms such as "undifferentiated connective tissue disease" or "overlapping syndromes" are not helpful. One-quarter of MCTD patients transform into LE, while one-third progress to SSc. Therapeutic recommendations are glucocorticoids in combination with immunosuppressive agents and endothelin receptor antagonists. Double blind studies are not available. The prognosis is relatively good. Causes of death include pulmonary hypertension, infections and both pulmonary and cardiac failure.

Perthes disease: A new finding in Floating-Harbor syndrome.

PubMed

Milani, Donatella; Scuvera, Giulietta; Gatti, Marta; Tolva, Gianluca; Bonarrigo, Francesca; Esposito, Susanna; Gervasini, Cristina

2018-03-01

Floating-Harbor Syndrome (FHS; OMIM #136140) is an ultra-rare autosomal dominant genetic condition characterized by expressive language delay, short stature with delayed bone mineralization, a triangular face with a prominent nose, and deep-set eyes, and hand anomalies. First reported in 1973, FHS is associated with mutations in the SRCAP gene, which encodes SNF2-related CREBBP activator protein. Mutations in the CREBBP gene cause Rubinstein-Taybi Syndrome (RSTS; OMIM #180849, #613684), another rare disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability, which has a phenotypic overlap with FHS. We describe a case of FHS associated with a novel SRCAP mutation and characterized by Perthes disease, a skeletal anomaly described in approximately 3% of patients with RSTS. Thus Perthes disease can be added to the list of clinical features that overlap between FHS and RSTS. © 2018 Wiley Periodicals, Inc.

Obsessive-compulsive aspects of craving: development of the Obsessive Compulsive Drinking Scale.

PubMed

Anton, R F

2000-08-01

"Craving" for alcohol needs improved definition and measurement. This review provides a rationale for considering at least certain aspects of craving as having obsessive and compulsive features. As such, there may be phenomenological, but not necessarily etiological, overlap with obsessive-compulsive disorder. There are increasing data that suggest a neuroanatomical overlap between addiction/craving and obsessive-compulsive symptoms. The self-rated Obsessive Compulsive Drinking Scale (OCDS), based on the Yale-Brown Obsessive Compulsive Scale for heavy drinking interview (YBOCS-hd), was developed to assist in the examination of certain aspects of "craving" in alcoholics. The development, reliability, face validity, congruent validity and predictive validity of the OCDS are presented and discussed in this paper. The utility of the OCDS as a measurement tool in cognitive-behavioral and pharmacological alcoholism treatment research is highlighted. The potential of this instrument as a research and clinical tool for the understanding and evaluation of alcohol dependence needs further evaluation.

Genomics of Systemic Lupus Erythematosus: Insights Gained by Studying Monogenic Young-Onset Systemic Lupus Erythematosus.

PubMed

Hiraki, Linda T; Silverman, Earl D

2017-08-01

Systemic lupus erythematosus (SLE) is a systemic, autoimmune, multisystem disease with a heterogeneous clinical phenotype. Genome-wide association studies have identified multiple susceptibility loci, but these explain a fraction of the estimated heritability. This is partly because within the broad spectrum of SLE are monogenic diseases that tend to cluster in patients with young age of onset, and in families. This article highlights insights into the pathogenesis of SLE provided by these monogenic diseases. It examines genetic causes of complement deficiency, abnormal interferon production, and abnormalities of tolerance, resulting in monogenic SLE with overlapping clinical features, autoantibodies, and shared inflammatory pathways. Copyright © 2017 Elsevier Inc. All rights reserved.

Migraine and epilepsy: a focus on overlapping clinical, pathophysiological, molecular, and therapeutic aspects.

PubMed

Bianchin, Marino Muxfeldt; Londero, Renata Gomes; Lima, José Eduardo; Bigal, Marcelo Eduardo

2010-08-01

The association of epilepsy and migraine has been long recognized. Migraine and epilepsy are both chronic disorders with episodic attacks. Furthermore, headache may be a premonitory or postdromic symptom of seizures, and migraine headaches may cause seizures per se (migralepsy). Migraine and epilepsy are comorbid, sharing pathophysiological mechanisms and common clinical features. Several recent studies identified common genetic and molecular substrates for migraine and epilepsy, including phenotypic-genotypic correlations with mutations in the CACNA1A, ATP1A2, and SCN1A genes, as well as in syndromes due to mutations in the SLC1A3, POLG, and C10orF2 genes. Herein, we review the relationship between migraine and epilepsy, focusing on clinical aspects and some recent pathophysiological and molecular studies.

Radial sets: interactive visual analysis of large overlapping sets.

PubMed

Alsallakh, Bilal; Aigner, Wolfgang; Miksch, Silvia; Hauser, Helwig

2013-12-01

In many applications, data tables contain multi-valued attributes that often store the memberships of the table entities to multiple sets such as which languages a person masters, which skills an applicant documents, or which features a product comes with. With a growing number of entities, the resulting element-set membership matrix becomes very rich of information about how these sets overlap. Many analysis tasks targeted at set-typed data are concerned with these overlaps as salient features of such data. This paper presents Radial Sets, a novel visual technique to analyze set memberships for a large number of elements. Our technique uses frequency-based representations to enable quickly finding and analyzing different kinds of overlaps between the sets, and relating these overlaps to other attributes of the table entities. Furthermore, it enables various interactions to select elements of interest, find out if they are over-represented in specific sets or overlaps, and if they exhibit a different distribution for a specific attribute compared to the rest of the elements. These interactions allow formulating highly-expressive visual queries on the elements in terms of their set memberships and attribute values. As we demonstrate via two usage scenarios, Radial Sets enable revealing and analyzing a multitude of overlapping patterns between large sets, beyond the limits of state-of-the-art techniques.

A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis.

PubMed

Mimouni-Bloch, Aviva; Yeshaya, Josepha; Kahana, Sarit; Maya, Idit; Basel-Vanagaite, Lina

2015-11-01

Microdeletions of various sizes in the 2p16.1-p15 chromosomal region have been grouped together under the 2p16.1-p15 microdeletion syndrome. Children with this syndrome generally share certain features including microcephaly, developmental delay, facial dysmorphism, urogenital and skeletal abnormalities. We present a child with a de-novo interstitial 1665 kb duplication of 2p16.1-p15. Clinical features of this child are distinct from those of children with the 2p16.1-p15 microdeletion syndrome, specifically the head circumference which is within the normal range and mild intellectual disability with absence of autistic behaviors. Microduplications many times bear milder clinical phenotypes in comparison with corresponding microdeletion syndromes. Indeed, as compared to the microdeletion syndrome patients, the 2p16.1-p15 microduplication seems to have a milder cognitive effect and no effect on other body systems. Limited information available in genetic databases about cases with overlapping duplications indicates that they all have abnormal developmental phenotypes. The involvement of genes in this location including BCL11A, USP34 and PEX13, affecting fundamental developmental processes both within and outside the nervous system may explain the clinical features of the individual described in this report. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

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

PubMed Central

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

2016-01-01

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

Sensitivity and specificity of clinical, histologic, and immunologic features in the diagnosis of paraneoplastic pemphigus.

PubMed

Joly, P; Richard, C; Gilbert, D; Courville, P; Chosidow, O; Roujeau, J C; Beylot-Barry, M; D'incan, M; Martel, P; Lauret, P; Tron, F

2000-10-01

Paraneoplastic pemphigus (PNP) is an autoimmune blistering disease characterized by the production of autoantibodies mainly directed against proteins of the plakin family. An overlapping distribution of autoantibody specificities has been recently reported between PNP, pemphigus vulgaris (PV), and pemphigus foliaceus (PF), which suggests a relationship between the different types of pemphigus. Our purpose was to evaluate the sensitivity and the specificity of clinical, histologic, and immunologic features in the diagnosis of PNP. The clinical, histologic, and immunologic features of 22 PNP patients were retrospectively reviewed and compared with those of 81 PV and PF patients without neoplasia and of 8 PV and 4 PF patients with various neoplasms. One clinical and 2 biologic features had both high sensitivity (82%-86%) and high specificity (83%-100%) whatever the control group considered: (1) association with a lymphoproliferative disorder, (2) indirect immunofluorescence (IIF) labeling of rat bladder, and (3) recognition of the envoplakin and/or periplakin bands in immunoblotting. Two clinicopathologic and two biologic features had high specificity (87%-100%) but poor sensitivity (27%-59%): (1) clinical presentation associating erosive oral lesions with erythema multiforme-like, bullous pemphigoid-like, or lichen planus-like cutaneous lesions; (2) histologic picture of suprabasal acantholysis with keratinocyte necrosis, interface changes, or lichenoid infiltrate; (3) presence of both anti-epithelial cell surface and anti-basement membrane zone antibodies by IIF; and (4) recognition of the desmoplakin I and/or BPAG1 bands in immunoblotting. Interestingly, 45% of patients with PNP presented initially with isolated oral erosions that were undistinguishable from those seen in PV patients, and 27% had histologic findings of only suprabasal acantholysis, which was in accordance with the frequent detection of anti-desmoglein 3 antibodies in PNP sera. The association with a lymphoproliferative disorder, the IIF labeling of rat bladder, and the immunoblotting recognition of envoplakin and/or periplakin are both sensitive and specific features in the diagnosis of PNP.

Spinal bone marrow necrosis with vertebral compression fracture: differentiation of BMN from AVN.

PubMed

Nix, J S; Fitzgerald, R T; Samant, R S; Harrison, M; Angtuaco, E J

2014-09-01

Bone marrow necrosis (BMN) is a rare malignancy-associated hematologic disorder characterized by necrosis of myeloid and stromal marrow elements with preservation of cortical bone. Overlap between the imaging appearances of BMN and avascular necrosis (AVN) raises the potential for diagnostic confusion. We report a case of BMN presenting with a traumatic multi-level vertebral body collapse, and finding that may potentially confound distinction between the two entities. We discuss important pathophysiologic, clinical, and radiologic differences between BMN and AVN with emphasis on features important in the differential diagnosis.

Airborne spectroradiometry: The application of AIS data to detecting subtle mineral absorption features

NASA Technical Reports Server (NTRS)

Cocks, T. D.; Green, A. A.

1986-01-01

Analysis of Airborne Imaging Spectrometer (AIS) data acquired in Australia has revealed a number of operational problems. Horizontal striping in AIS imagery and spectral distortions due to order overlap were investigated. Horizontal striping, caused by grating position errors can be removed with little or no effect on spectral details. Order overlap remains a problem that seriously compromises identification of subtle mineral absorption features within AIS spectra. A spectrometric model of the AIS was developed to assist in identifying spurious spectral features, and will be used in efforts to restore the spectral integrity of the data.

Dark-field microscopic image stitching method for surface defects evaluation of large fine optics.

PubMed

Liu, Dong; Wang, Shitong; Cao, Pin; Li, Lu; Cheng, Zhongtao; Gao, Xin; Yang, Yongying

2013-03-11

One of the challenges in surface defects evaluation of large fine optics is to detect defects of microns on surfaces of tens or hundreds of millimeters. Sub-aperture scanning and stitching is considered to be a practical and efficient method. But since there are usually few defects on the large aperture fine optics, resulting in no defects or only one run-through line feature in many sub-aperture images, traditional stitching methods encounter with mismatch problem. In this paper, a feature-based multi-cycle image stitching algorithm is proposed to solve the problem. The overlapping areas of sub-apertures are categorized based on the features they contain. Different types of overlapping areas are then stitched in different cycles with different methods. The stitching trace is changed to follow the one that determined by the features. The whole stitching procedure is a region-growing like process. Sub-aperture blocks grow bigger after each cycle and finally the full aperture image is obtained. Comparison experiment shows that the proposed method is very suitable to stitch sub-apertures that very few feature information exists in the overlapping areas and can stitch the dark-field microscopic sub-aperture images very well.

SU-F-I-57: Evaluate and Optimize PET Acquisition Overlap in 18F-FDG Oncology Wholebody PET/CT: Can We Scan PET Faster?

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

Zhang, J; Natwa, M; Hall, NC

Purpose: The longer patient has to remain on the table during PET imaging, the higher the likelihood of motion artifacts due to patient discomfort. This study was to investigate and optimize PET acquisition overlap in 18F-FDG oncology wholebody PET/CT to speed up PET acquisition and improve patient comfort. Methods: Wholebody 18F-FDG PET/CT of phantoms, 8 pre-clinical patients (beagles) and 5 clinical oncology patients were performed in 90s/bed on a time-of-flight Gemini TF 64 system. Imaging of phantoms and beagles was acquired with reduced PET overlaps (40%, 33%, 27%, 20%, 13% and no overlap) in addition to the system default (53%).more » In human studies, 1 or 2 reduced overlaps from the listed options were used to acquire PET/CT sweeps right after the default standard of care imaging. Image quality was blindly reviewed using visual scoring criteria and quantitative SUV assessment. NEMA PET sensitivity was performed under different overlaps. Results: All PET exams demonstrated no significant impact on the visual grades for overlaps >20%. Blinded reviews assigned the best visual scores to PET using overlaps 53%–27%. Reducing overlap to 27% for oncology patients (12-bed) saved an average of ∼40% acquisition time (11min) compared to using the default overlap (18min). No significant SUV variances were found when reducing overlap to half of default for cerebellum, lung, heart, aorta, liver, fat, muscle, bone marrow, thighs and target lesions (p>0.05), except expected variability in urinary system. Conclusion: This study demonstrated by combined phantom, pre-clinical and clinical PET/CT scans that PET acquisition overlap in axial of today’s systems can be reduced and optimized. It showed that a reduction of PET acquisition overlap to 27% (half of system default) can be implemented to reduce table time by ∼40% to improve patient comfort and minimize potential motion artifacts, without prominently degrading image quality or compromising PET quantification.« less

Chemical pharmacotherapy options for managing adult acne.

PubMed

Vera, Nora; Patel, Nupur; Cardwell, Leah A; Saleem, Mohammed; Feldman, Steven R

2017-02-01

The incidence of adult acne is increasing worldwide. Despite clinical overlap with conventional acne, it has distinct features. Areas covered: A literature search of English-language review articles, randomized control studies and retrospective studies conducted over the past 30 years was performed using PubMed and Google Scholar. Search terms included acne, adult, topical medication, oral medication and skin of color. We highlight important clinical features and treatment modalities pertinent to the evaluation and management of adult acne. Given the relative dearth of literature detailing treatment options specific to adult acne, we offer expert opinion regarding management of the condition especially in special populations such as skin of color and pregnancy. Expert Opinion: It is unclear whether adult acne represents a distinct entity or a continuum of adolescent disease. Providers may opt to use topical medication as first-line, but should have a low threshold for switching to systemic therapy given the magnitude of psychosocial and emotional burden associated with the condition.

Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.

PubMed

Gagne, Katelyn E; Ghazvinian, Roxanne; Yuan, Daniel; Zon, Rebecca L; Storm, Kelsie; Mazur-Popinska, Magdalena; Andolina, Laura; Bubala, Halina; Golebiowska, Sydonia; Higman, Meghan A; Kalwak, Krzysztof; Kurre, Peter; Matysiak, Michal; Niewiadomska, Edyta; Pels, Salley; Petruzzi, Mary Jane; Pobudejska-Pieniazek, Aneta; Szczepanski, Tomasz; Fleming, Mark D; Gazda, Hanna T; Agarwal, Suneet

2014-07-17

Pearson marrow pancreas syndrome (PS) is a multisystem disorder caused by mitochondrial DNA (mtDNA) deletions. Diamond-Blackfan anemia (DBA) is a congenital hypoproliferative anemia in which mutations in ribosomal protein genes and GATA1 have been implicated. Both syndromes share several features including early onset of severe anemia, variable nonhematologic manifestations, sporadic genetic occurrence, and occasional spontaneous hematologic improvement. Because of the overlapping features and relative rarity of PS, we hypothesized that some patients in whom the leading clinical diagnosis is DBA actually have PS. Here, we evaluated patient DNA samples submitted for DBA genetic studies and found that 8 (4.6%) of 173 genetically uncharacterized patients contained large mtDNA deletions. Only 2 (25%) of the patients had been diagnosed with PS on clinical grounds subsequent to sample submission. We conclude that PS can be overlooked, and that mtDNA deletion testing should be performed in the diagnostic evaluation of patients with congenital anemia. © 2014 by The American Society of Hematology.

Differentiating cognitive impairment due to corticobasal degeneration and Alzheimer disease

PubMed Central

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

2017-01-01

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

Core Clinical Phenotypes in Myotonic Dystrophies

PubMed Central

Wenninger, Stephan; Montagnese, Federica; Schoser, Benedikt

2018-01-01

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent multisystemic muscular dystrophies in adulthood. They are progressive, autosomal dominant diseases caused by an abnormal expansion of an unstable nucleotide repeat located in the non-coding region of their respective genes DMPK for DM1 and CNBP in DM2. Clinically, these multisystemic disorders are characterized by a high variability of muscular and extramuscular symptoms, often causing a delay in diagnosis. For both subtypes, many symptoms overlap, but some differences allow their clinical distinction. This article highlights the clinical core features of myotonic dystrophies, thus facilitating their early recognition and diagnosis. Particular attention will be given to signs and symptoms of muscular involvement, to issues related to respiratory impairment, and to the multiorgan involvement. This article is part of a Special Issue entitled “Beyond Borders: Myotonic Dystrophies—A European Perception.”

Dissociative Disorders: Between Neurosis and Psychosis

PubMed Central

Devillé, C.; Moeglin, C.; Sentissi, O.

2014-01-01

Dissociative disorders are a set of disorders defined by a disturbance affecting functions that are normally integrated with a prevalence of 2.4 percent in industrialised countries. These disorders are often poorly diagnosed or misdiagnosed because of sharing common clinical features with psychotic disorders, but requiring a very different trajectory of care. Repeated clinical situations in a crisis centre in Geneva provided us with a critical overview of current evidence of knowledge in clinical and etiopathological field about dissociative disorders. Because of their multiple expressions and the overlap with psychotic disorders, we focused on the clinical aspects using three different situations to better understand their specificity and to extend our thinking to the relevance of terms “neurosis” and “psychosis.” Finally, we hope that this work might help physicians and psychiatrists to become more aware of this complex set of disorders while making a diagnosis. PMID:25405051

Functional Dyspepsia: Advances in Diagnosis and Therapy

PubMed Central

Talley, Nicholas J.

2017-01-01

Functional dyspepsia (FD) is a common but under-recognized syndrome comprising bothersome recurrent postprandial fullness, early satiety, or epigastric pain/burning. Epidemiologically, there are two clinically distinct FD syndromes (although these often overlap clinically): postprandial distress syndrome (PDS; comprising early satiety or meal-related fullness) and epigastric pain syndrome. Symptoms of gastroesophageal reflux disease overlap with FD more than expected by chance; a subset has pathological acid reflux. The pre-test probability of FD in a patient who presents with classical FD symptoms and no alarm features is high, approximately 0.7. Coexistent heartburn should not lead to the exclusion of FD as a diagnosis. One of the most exciting observations in FD has been the consistent finding of increased duodenal eosinophilia, notably in PDS. Small bowel homing T cells, signaling intestinal inflammation, and increased cytokines have been detected in the circulation, and elevated tumor necrosis factor-α levels have been significantly correlated with increased anxiety. Postinfectious gastroenteritis is a risk factor for FD. Therapeutic options remain limited and provide only symptomatic benefit in most cases. Only one therapy is known to change the natural history of FD–Helicobacter pylori eradication. Treatment of duodenal eosinophilia is under investigation. PMID:28452210

Characteristics of Mild Cognitive Impairment Using the Thai Version of the Consortium to Establish a Registry for Alzheimer's Disease Tests: A Multivariate and Machine Learning Study.

PubMed

Tunvirachaisakul, Chavit; Supasitthumrong, Thitiporn; Tangwongchai, Sookjareon; Hemrunroj, Solaphat; Chuchuen, Phenphichcha; Tawankanjanachot, Itthipol; Likitchareon, Yuthachai; Phanthumchinda, Kamman; Sriswasdi, Sira; Maes, Michael

2018-04-04

The Consortium to Establish a Registry for Alzheimer's Disease (CERAD) developed a neuropsychological battery (CERAD-NP) to screen patients with Alzheimer's dementia. Mild cognitive impairment (MCI) has received attention as a pre-dementia stage. To delineate the CERAD-NP features of MCI and their clinical utility to externally validate MCI diagnosis. The study included 60 patients with MCI, diagnosed using the Clinical Dementia Rating, and 63 normal controls. Data were analysed employing receiver operating characteristic analysis, Linear Support Vector Machine, Random Forest, Adaptive Boosting, Neural Network models, and t-distributed stochastic neighbour embedding (t-SNE). MCI patients were best discriminated from normal controls using a combination of Wordlist Recall, Wordlist Memory, and Verbal Fluency Test. Machine learning showed that the CERAD features learned from MCI patients and controls were not strongly predictive of the diagnosis (maximal cross-validation 77.2%), whilst t-SNE showed that there is a considerable overlap between MCI and controls. The most important features of the CERAD-NP differentiating MCI from normal controls indicate impairments in episodic and semantic memory and recall. While these features significantly discriminate MCI patients from normal controls, the tests are not predictive of MCI. © 2018 S. Karger AG, Basel.

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

PubMed

Colombi, Marina; Dordoni, Chiara; Chiarelli, Nicola; Ritelli, Marco

2015-03-01

Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS-HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS-HT is an "exclusion" diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes. © 2015 Wiley Periodicals, Inc.

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

PubMed Central

Guerreiro, Rita; Escott-Price, Valentina; Darwent, Lee; Parkkinen, Laura; Ansorge, Olaf; Hernandez, Dena G.; Nalls, Michael A.; Clark, Lorraine; Honig, Lawrence; Marder, Karen; van der Flier, Wiesje; Holstege, Henne; Louwersheimer, Eva; Lemstra, Afina; Scheltens, Philip; Rogaeva, Ekaterina; St George-Hyslop, Peter; Londos, Elisabet; Zetterberg, Henrik; Ortega-Cubero, Sara; Pastor, Pau; Ferman, Tanis J.; Graff-Radford, Neill R.; Ross, Owen A.; Barber, Imelda; Braae, Anne; Brown, Kristelle; Morgan, Kevin; Maetzler, Walter; Berg, Daniela; Troakes, Claire; Al-Sarraj, Safa; Lashley, Tammaryn; Compta, Yaroslau; Revesz, Tamas; Lees, Andrew; Cairns, Nigel J.; Halliday, Glenda M.; Mann, David; Pickering-Brown, Stuart; Powell, John; Lunnon, Katie; Lupton, Michelle K.; Dickson, Dennis; Hardy, John; Singleton, Andrew; Bras, Jose

2016-01-01

The similarities between dementia with Lewy bodies (DLB) and both Parkinson's disease (PD) and Alzheimer's disease (AD) are many and range from clinical presentation, to neuropathological characteristics, to more recently identified, genetic determinants of risk. Because of these overlapping features, diagnosing DLB is challenging and has clinical implications since some therapeutic agents that are applicable in other diseases have adverse effects in DLB. Having shown that DLB shares some genetic risk with PD and AD, we have now quantified the amount of sharing through the application of genetic correlation estimates, and show that, from a purely genetic perspective, and excluding the strong association at the APOE locus, DLB is equally correlated to AD and PD. PMID:26643944

Granulomatous lobular mastitis.

PubMed Central

Going, J J; Anderson, T J; Wilkinson, S; Chetty, U

1987-01-01

The clinical and pathological features of nine cases of granulomatous mastitis were compared with those of 10 cases of duct ectasia/periductal mastitis (DE/PM), all of which were associated with active granulomatous inflammation. Granulomatous mastitis affects a younger age group, and although there is some overlap with DE/PM, it has distinctive pathological features, particularly a lobule centred distribution, for which the term "granulomatous lobular mastitis" is recommended. There is a strong tendency for persistence or recurrence. Our cases of granulomatous mastitis all occurred in parous women, five of them within three years of pregnancy. Awareness of this condition is important, because surgery does not offer the best treatment of recurrent disease, and trials of adequate drug treatment, including corticosteroids, are required. Images Fig 1 Fig 2 Fig 3 Fig 4 PMID:3584506

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.

Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis

PubMed Central

Shetty, Devi C.; Singh, Harkanwal P.; Kumar, Prince; Verma, Chanchal

2012-01-01

Skeletal dysplasias are a heterogenous group of disorders combining abnormalities in the skull and other skeletal bones. Weyers acrofacial dysostosis also known as Weyers acrodental dysostosis was first described in 1952, by Weyers, as a postaxial polydactyly, which had features distinct from, yet some in common with the Ellis-van Creveld Syndrome (EvC). Both the syndromes have been mapped to the same chromosome, 4p16. The cases reported here highlight the overlapping features of both syndromes, which are dissimilar in mode of inheritance and phenotypic severity, emphasizing the need for genetic analysis, to categorize these conditions. PMID:22616035

Quantitative description of solid breast nodules by ultrasound imaging

NASA Astrophysics Data System (ADS)

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

2004-04-01

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

Definition of delayed cerebral ischemia after aneurysmal subarachnoid hemorrhage as an outcome event in clinical trials and observational studies: proposal of a multidisciplinary research group.

PubMed

Vergouwen, Mervyn D I; Vermeulen, Marinus; van Gijn, Jan; Rinkel, Gabriel J E; Wijdicks, Eelco F; Muizelaar, J Paul; Mendelow, A David; Juvela, Seppo; Yonas, Howard; Terbrugge, Karel G; Macdonald, R Loch; Diringer, Michael N; Broderick, Joseph P; Dreier, Jens P; Roos, Yvo B W E M

2010-10-01

In clinical trials and observational studies there is considerable inconsistency in the use of definitions to describe delayed cerebral ischemia (DCI) after aneurysmal subarachnoid hemorrhage. A major cause for this inconsistency is the combining of radiographic evidence of vasospasm with clinical features of cerebral ischemia, although multiple factors may contribute to DCI. The second issue is the variability and overlap of terms used to describe each phenomenon. This makes comparisons among studies difficult. An international ad hoc panel of experts involved in subarachnoid hemorrhage research developed and proposed a definition of DCI to be used as an outcome measure in clinical trials and observational studies. We used a consensus-building approach. It is proposed that in observational studies and clinical trials aiming to investigate strategies to prevent DCI, the 2 main outcome measures should be: (1) cerebral infarction identified on CT or MRI or proven at autopsy, after exclusion of procedure-related infarctions; and (2) functional outcome. Secondary outcome measure should be clinical deterioration caused by DCI, after exclusion of other potential causes of clinical deterioration. Vasospasm on angiography or transcranial Doppler can also be used as an outcome measure to investigate proof of concept but should be interpreted in conjunction with DCI or functional outcome. The proposed measures reflect the most relevant morphological and clinical features of DCI without regard to pathogenesis to be used as an outcome measure in clinical trials and observational studies.

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

PubMed

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

2016-06-01

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

Automatic detection of regions of interest in mammographic images

NASA Astrophysics Data System (ADS)

Cheng, Erkang; Ling, Haibin; Bakic, Predrag R.; Maidment, Andrew D. A.; Megalooikonomou, Vasileios

2011-03-01

This work is a part of our ongoing study aimed at comparing the topology of anatomical branching structures with the underlying image texture. Detection of regions of interest (ROIs) in clinical breast images serves as the first step in development of an automated system for image analysis and breast cancer diagnosis. In this paper, we have investigated machine learning approaches for the task of identifying ROIs with visible breast ductal trees in a given galactographic image. Specifically, we have developed boosting based framework using the AdaBoost algorithm in combination with Haar wavelet features for the ROI detection. Twenty-eight clinical galactograms with expert annotated ROIs were used for training. Positive samples were generated by resampling near the annotated ROIs, and negative samples were generated randomly by image decomposition. Each detected ROI candidate was given a confidences core. Candidate ROIs with spatial overlap were merged and their confidence scores combined. We have compared three strategies for elimination of false positives. The strategies differed in their approach to combining confidence scores by summation, averaging, or selecting the maximum score.. The strategies were compared based upon the spatial overlap with annotated ROIs. Using a 4-fold cross-validation with the annotated clinical galactographic images, the summation strategy showed the best performance with 75% detection rate. When combining the top two candidates, the selection of maximum score showed the best performance with 96% detection rate.

Characterization of Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome: A Qualitative Analysis.

PubMed

Rodrigue, Claudie; Beauchesne, Marie-France; Mallette, Valérie; Lemière, Catherine; Larivée, Pierre; Blais, Lucie

2017-06-01

Approximately 15-20% of patients with chronic obstructive pulmonary disease (COPD) also display characteristics of asthma. In May 2014, the asthma-COPD overlap syndrome (ACOS) was briefly addressed in the Global Initiative for Asthma (GINA) and Global Initiative for Chronic Obstructive Lung Disease (GOLD) strategy documents. We evaluated how pulmonologists diagnose and treat ACOS and how they assess its control. Pulmonologists from two university healthcare centers, having ≥ 1 year experience, treating patients with asthma, COPD, or ACOS, were invited to participate in focus groups. Two focus groups (1 hour duration) were convened with seven and five participants, respectively. According to pulmonologists from both institutions, ACOS is a new name for an existing syndrome rather than a new disease. It is characterized by incomplete reversible airflow limitations and changes in forced expiratory volume in one second over time. The pulmonologists noted that its diagnosis must be based on clinical characteristics, pulmonary function test results, and clinical intuition. To diagnose ACOS, pulmonologists must rely on their clinical judgment. They also agreed that the treatment of patients with ACOS should target the features of both asthma and COPD. Pulmonologists from both institutions used asthma control criteria to assess ACOS control. A deeper understanding would enable clinicians to establish specific criteria for the diagnosis, treatment, and follow-up of subjects with ACOS.

AfterQC: automatic filtering, trimming, error removing and quality control for fastq data.

PubMed

Chen, Shifu; Huang, Tanxiao; Zhou, Yanqing; Han, Yue; Xu, Mingyan; Gu, Jia

2017-03-14

Some applications, especially those clinical applications requiring high accuracy of sequencing data, usually have to face the troubles caused by unavoidable sequencing errors. Several tools have been proposed to profile the sequencing quality, but few of them can quantify or correct the sequencing errors. This unmet requirement motivated us to develop AfterQC, a tool with functions to profile sequencing errors and correct most of them, plus highly automated quality control and data filtering features. Different from most tools, AfterQC analyses the overlapping of paired sequences for pair-end sequencing data. Based on overlapping analysis, AfterQC can detect and cut adapters, and furthermore it gives a novel function to correct wrong bases in the overlapping regions. Another new feature is to detect and visualise sequencing bubbles, which can be commonly found on the flowcell lanes and may raise sequencing errors. Besides normal per cycle quality and base content plotting, AfterQC also provides features like polyX (a long sub-sequence of a same base X) filtering, automatic trimming and K-MER based strand bias profiling. For each single or pair of FastQ files, AfterQC filters out bad reads, detects and eliminates sequencer's bubble effects, trims reads at front and tail, detects the sequencing errors and corrects part of them, and finally outputs clean data and generates HTML reports with interactive figures. AfterQC can run in batch mode with multiprocess support, it can run with a single FastQ file, a single pair of FastQ files (for pair-end sequencing), or a folder for all included FastQ files to be processed automatically. Based on overlapping analysis, AfterQC can estimate the sequencing error rate and profile the error transform distribution. The results of our error profiling tests show that the error distribution is highly platform dependent. Much more than just another new quality control (QC) tool, AfterQC is able to perform quality control, data filtering, error profiling and base correction automatically. Experimental results show that AfterQC can help to eliminate the sequencing errors for pair-end sequencing data to provide much cleaner outputs, and consequently help to reduce the false-positive variants, especially for the low-frequency somatic mutations. While providing rich configurable options, AfterQC can detect and set all the options automatically and require no argument in most cases.

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/

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

PubMed Central

2013-01-01

Background Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as well. We set forth to find further conditions caused by mutations in the EFTUD2 gene (OMIM *603892). Methods and results We performed exome sequencing in two familial cases with clinical features overlapping with MFDGA and EA, but which were previously assumed to represent distinct entities, a syndrome with esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and intellectual disability in a mother and her two children [AJMG 143A(11):1135-1142, 2007] and a supposedly autosomal recessive oto-facial syndrome with midline malformations in two sisters [AJMG 132(4):398-401, 2005]. While the analysis of our exome data was in progress, a recent publication made EFTUD2 mutations highly likely in these families. This hypothesis could be confirmed with exome as well as with Sanger sequencing. Also, in three further sporadic patients, clinically overlapping to these two families, de novo mutations within EFTUD2 were identified by Sanger sequencing. Our clinical and molecular workup of the patients discloses a broad phenotypic spectrum, and describes for the first time an instance of germline mosaicism for an EFTUD2 mutation. Conclusions The clinical features of the eight patients described here further broaden the phenotypic spectrum caused by EFTUD2 mutations or deletions. We here show, that it not only includes mandibulofacial dysostosis type Guion-Almeida, which should be reclassified as an acrofacial dysostosis because of thumb anomalies (present in 12/35 or 34% of patients) and syndromic esophageal atresia [JMG 49(12). 737-746, 2012], but also the two new syndromes, namely oto-facial syndrome with midline malformations published by Mégarbané et al. [AJMG 132(4): 398-401, 2005] and the syndrome published by Wieczorek et al. [AJMG 143A(11): 1135-1142, 2007] The finding of mild phenotypic features in the mother of one family that could have been overlooked and the possibility of germline mosaicism in apparently healthy parents in the other family should be taken into account when counseling such families. PMID:23879989

STITCHER: A web resource for high-throughput design of primers for overlapping PCR applications.

PubMed

O'Halloran, Damien M

2015-06-01

Overlapping PCR is routinely used in a wide number of molecular applications. These include stitching PCR fragments together, generating fluorescent transcriptional and translational fusions, inserting mutations, making deletions, and PCR cloning. Overlapping PCR is also used for genotyping by traditional PCR techniques and in detection experiments using techniques such as loop-mediated isothermal amplification (LAMP). STITCHER is a web tool providing a central resource for researchers conducting all types of overlapping PCR experiments with an intuitive interface for automated primer design that's fast, easy to use, and freely available online (http://ohalloranlab.net/STITCHER.html). STITCHER can handle both single sequence and multi-sequence input, and specific features facilitate numerous other PCR applications, including assembly PCR, adapter PCR, and primer walking. Field PCR, and in particular, LAMP, offers promise as an on site tool for pathogen detection in underdeveloped areas, and STITCHER includes off-target detection features for pathogens commonly targeted using LAMP technology.

Asthma-COPD overlap. Clinical relevance of genomic signatures of type 2 inflammation in chronic obstructive pulmonary disease.

PubMed

Christenson, Stephanie A; Steiling, Katrina; van den Berge, Maarten; Hijazi, Kahkeshan; Hiemstra, Pieter S; Postma, Dirkje S; Lenburg, Marc E; Spira, Avrum; Woodruff, Prescott G

2015-04-01

Chronic obstructive pulmonary disease (COPD) is a heterogeneous disease and likely includes a subgroup that is biologically comparable to asthma. Studying asthma-associated gene expression changes in COPD could add insight into COPD pathogenesis and reveal biomarkers that predict a favorable response to corticosteroids. To determine whether asthma-associated gene signatures are increased in COPD and associated with asthma-related features. We compared disease-associated airway epithelial gene expression alterations in an asthma cohort (n = 105) and two COPD cohorts (n = 237, 171). The T helper type 2 (Th2) signature (T2S) score, a gene expression metric induced in Th2-high asthma, was evaluated in these COPD cohorts. The T2S score was correlated with asthma-related features and response to corticosteroids in COPD in a randomized, placebo-controlled trial, the Groningen and Leiden Universities study of Corticosteroids in Obstructive Lung Disease (GLUCOLD; n = 89). The 200 genes most differentially expressed in asthma versus healthy control subjects were enriched among genes associated with more severe airflow obstruction in these COPD cohorts (P < 0.001), suggesting significant gene expression overlap. A higher T2S score was associated with decreased lung function (P < 0.001), but not asthma history, in both COPD cohorts. Higher T2S scores correlated with increased airway wall eosinophil counts (P = 0.003), blood eosinophil percentage (P = 0.03), bronchodilator reversibility (P = 0.01), and improvement in hyperinflation after corticosteroid treatment (P = 0.019) in GLUCOLD. These data identify airway gene expression alterations that can co-occur in asthma and COPD. The association of the T2S score with increased severity and "asthma-like" features (including a favorable corticosteroid response) in COPD suggests that Th2 inflammation is important in a COPD subset that cannot be identified by clinical history of asthma.

Asthma–COPD Overlap. Clinical Relevance of Genomic Signatures of Type 2 Inflammation in Chronic Obstructive Pulmonary Disease

PubMed Central

Steiling, Katrina; van den Berge, Maarten; Hijazi, Kahkeshan; Hiemstra, Pieter S.; Postma, Dirkje S.; Lenburg, Marc E.; Spira, Avrum; Woodruff, Prescott G.

2015-01-01

Rationale: Chronic obstructive pulmonary disease (COPD) is a heterogeneous disease and likely includes a subgroup that is biologically comparable to asthma. Studying asthma-associated gene expression changes in COPD could add insight into COPD pathogenesis and reveal biomarkers that predict a favorable response to corticosteroids. Objectives: To determine whether asthma-associated gene signatures are increased in COPD and associated with asthma-related features. Methods: We compared disease-associated airway epithelial gene expression alterations in an asthma cohort (n = 105) and two COPD cohorts (n = 237, 171). The T helper type 2 (Th2) signature (T2S) score, a gene expression metric induced in Th2-high asthma, was evaluated in these COPD cohorts. The T2S score was correlated with asthma-related features and response to corticosteroids in COPD in a randomized, placebo-controlled trial, the Groningen and Leiden Universities study of Corticosteroids in Obstructive Lung Disease (GLUCOLD; n = 89). Measurements and Main Results: The 200 genes most differentially expressed in asthma versus healthy control subjects were enriched among genes associated with more severe airflow obstruction in these COPD cohorts (P < 0.001), suggesting significant gene expression overlap. A higher T2S score was associated with decreased lung function (P < 0.001), but not asthma history, in both COPD cohorts. Higher T2S scores correlated with increased airway wall eosinophil counts (P = 0.003), blood eosinophil percentage (P = 0.03), bronchodilator reversibility (P = 0.01), and improvement in hyperinflation after corticosteroid treatment (P = 0.019) in GLUCOLD. Conclusions: These data identify airway gene expression alterations that can co-occur in asthma and COPD. The association of the T2S score with increased severity and “asthma-like” features (including a favorable corticosteroid response) in COPD suggests that Th2 inflammation is important in a COPD subset that cannot be identified by clinical history of asthma. PMID:25611785

Jumping Frenchmen, Miryachit, and Latah: Culture-Specific Hyperstartle-Plus Syndromes.

PubMed

Lanska, Douglas J

2018-01-01

In the late 19th century, jumping (French Canadians in Maine, USA), miryachit (Siberia), and latah (Southeast Asia) were among a group of similar disorders described around the world, each of which manifests as an exaggerated startle response with additional late-response features that were felt by some to overlap with hysteria or tics. The later features following the exaggerated startle reaction variably include mimesis (e.g., echopraxia, echolalia) and automatic obedience. These reaction patterns tended to persist indefinitely in affected individuals. Because of their dramatic stimulus-driven behaviors, affected individuals were prone to be teased and tormented by being repeatedly and intentionally startled. Despite clinical overlap between jumping and Tourette syndrome, these entities are now recognized as distinct: in jumping, the key feature is an abnormal startle response, the abnormal reaction is always provoked, and tics are absent, whereas in Tourette syndrome, the key feature is spontaneous motor and vocal tics, although patients with Tourette syndrome may occasionally also have an exaggerated startle response. These disorders have been conceptualized from anthropological, psychodynamic, and neurobiologic perspectives, with no complete resolution to date. Attempts at treatment have been generally unsuccessful, including attempts with bromization and hypnosis, although anecdotal reports of successful deconditioning have been published. In population groups affected, these disorders are usually considered as behavioral peculiarities and not as diseases per se, and there is no apparent tendency to develop disabling mental illness or neurodegenerative disorders. The genesis of these disorders, their cultural and social components, and their interactions with the presumed underlying physiological substrate need further study. Careful descriptive and analytic epidemiological studies are also lacking for all of these disorders. © 2018 S. Karger AG, Basel.

Fluorescence Intrinsic Characterization of Excitation-Emission Matrix Using Multi-Dimensional Ensemble Empirical Mode Decomposition

PubMed Central

Chang, Chi-Ying; Chang, Chia-Chi; Hsiao, Tzu-Chien

2013-01-01

Excitation-emission matrix (EEM) fluorescence spectroscopy is a noninvasive method for tissue diagnosis and has become important in clinical use. However, the intrinsic characterization of EEM fluorescence remains unclear. Photobleaching and the complexity of the chemical compounds make it difficult to distinguish individual compounds due to overlapping features. Conventional studies use principal component analysis (PCA) for EEM fluorescence analysis, and the relationship between the EEM features extracted by PCA and diseases has been examined. The spectral features of different tissue constituents are not fully separable or clearly defined. Recently, a non-stationary method called multi-dimensional ensemble empirical mode decomposition (MEEMD) was introduced; this method can extract the intrinsic oscillations on multiple spatial scales without loss of information. The aim of this study was to propose a fluorescence spectroscopy system for EEM measurements and to describe a method for extracting the intrinsic characteristics of EEM by MEEMD. The results indicate that, although PCA provides the principal factor for the spectral features associated with chemical compounds, MEEMD can provide additional intrinsic features with more reliable mapping of the chemical compounds. MEEMD has the potential to extract intrinsic fluorescence features and improve the detection of biochemical changes. PMID:24240806

Kindler syndrome.

PubMed

Lai-Cheong, Joey E; McGrath, John A

2010-01-01

Kindler syndrome (MIM173650) is an autosomal recessive genodermatosis characterized by poikiloderma, trauma-induced skin blistering, mucosal inflammation, and photosensitivity. Loss-of-function mutations in the FERMT1 gene are the cause of Kindler syndrome. Kindler syndrome is categorized as a subtype of epidermolysis bullosa (EB). During infancy and childhood, there is clinical overlap between Kindler syndrome and dystrophic EB. Unlike other forms of EB, Kindler syndrome is characterized by impaired actin cytoskeleton-extracellular matrix interactions and a variable plane of blister formation at or close to the dermal-epidermal junction. This article reviews clinicopathologic and molecular features of Kindler syndrome and discusses patient management.

Coronary artery dilatation in toxic shock-like syndrome: the Kawasaki disease shock syndrome.

PubMed

Yim, Deane; Ramsay, James; Kothari, Darshan; Burgner, David

2010-11-01

Kawasaki disease is a common systemic vasculitis of childhood that may result in life-threatening coronary artery abnormalities. Despite an overlap of clinical features with toxic shock syndrome, children with Kawasaki disease generally do not develop shock. We report two cases of older children who presented with a toxic shock-like illness, and were diagnosed with Kawasaki disease when coronary artery abnormalities were found on echocardiography, in keeping with the recently described 'Kawasaki disease shock syndrome'. Clinicians should consider Kawasaki disease in all children presenting with toxic shock and assess for coronary artery damage.

Does obsessive-compulsive personality disorder belong within the obsessive-compulsive spectrum?

PubMed

Fineberg, Naomi A; Sharma, Punita; Sivakumaran, Thanusha; Sahakian, Barbara; Chamberlain, Sam R; Chamberlain, Sam

2007-06-01

It has been proposed that certain Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition Axis I disorders share overlapping clinical features, genetic contributions, and treatment response and fall within an "obsessive-compulsive" spectrum. Obsessive-compulsive personality disorder (OCPD) resembles obsessive-compulsive disorder (OCD) and other spectrum disorders in terms of phenomenology, comorbidity, neurocognition, and treatment response. This article critically examines the nosological profile of OCPD with special reference to OCD and related disorders. By viewing OCPD as a candidate member of the obsessive-compulsive spectrum, we gain a fresh approach to understanding its neurobiology, etiology, and potential treatments.

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.

A fast and automatic mosaic method for high-resolution satellite images

NASA Astrophysics Data System (ADS)

Chen, Hongshun; He, Hui; Xiao, Hongyu; Huang, Jing

2015-12-01

We proposed a fast and fully automatic mosaic method for high-resolution satellite images. First, the overlapped rectangle is computed according to geographical locations of the reference and mosaic images and feature points on both the reference and mosaic images are extracted by a scale-invariant feature transform (SIFT) algorithm only from the overlapped region. Then, the RANSAC method is used to match feature points of both images. Finally, the two images are fused into a seamlessly panoramic image by the simple linear weighted fusion method or other method. The proposed method is implemented in C++ language based on OpenCV and GDAL, and tested by Worldview-2 multispectral images with a spatial resolution of 2 meters. Results show that the proposed method can detect feature points efficiently and mosaic images automatically.

Unsupervised Learning of Overlapping Image Components Using Divisive Input Modulation

PubMed Central

Spratling, M. W.; De Meyer, K.; Kompass, R.

2009-01-01

This paper demonstrates that nonnegative matrix factorisation is mathematically related to a class of neural networks that employ negative feedback as a mechanism of competition. This observation inspires a novel learning algorithm which we call Divisive Input Modulation (DIM). The proposed algorithm provides a mathematically simple and computationally efficient method for the unsupervised learning of image components, even in conditions where these elementary features overlap considerably. To test the proposed algorithm, a novel artificial task is introduced which is similar to the frequently-used bars problem but employs squares rather than bars to increase the degree of overlap between components. Using this task, we investigate how the proposed method performs on the parsing of artificial images composed of overlapping features, given the correct representation of the individual components; and secondly, we investigate how well it can learn the elementary components from artificial training images. We compare the performance of the proposed algorithm with its predecessors including variations on these algorithms that have produced state-of-the-art performance on the bars problem. The proposed algorithm is more successful than its predecessors in dealing with overlap and occlusion in the artificial task that has been used to assess performance. PMID:19424442

Enduring sexual dysfunction after treatment with antidepressants, 5α-reductase inhibitors and isotretinoin: 300 cases.

PubMed

Healy, David; Le Noury, Joanna; Mangin, Derelie

2018-05-01

To investigate clinical reports of post-SSRI sexual dysfunction (PSSD), post-finasteride syndrome (PFS) and enduring sexual dysfunction following isotretinoin. Data from RxISK.org, a global adverse event reporting website, have been used to establish the clinical features, demographic details and clinical trajectories of syndromes of persistent sexual difficulties following three superficially different treatment modalities.RESULTSWe report on 300 cases of enduring sexual dysfunction from 37 countries following 14 different drugs comprised of serotonin reuptake inhibiting antidepressants, 5α-reductase inhibitors and isotretinoin. While reports of certain issues were unique to the antidepressants, such as the onset of premature ejaculation and persistent genital arousal disorder (PGAD), there was also a significant overlap in symptom profile between the drug groups, with common features including genital anaesthesia, pleasureless or weak orgasm, loss of libido and impotence. Secondary consequences included relationship breakdown and impaired quality of life.CONCLUSIONSThese data point to a legacy syndrome or syndromes comprising a range of disturbances to sexual function. More detailed studies will require developments in coding systems that recognise the condition(s). Further exploration of these tardive sexual syndromes may yield greater understanding of tardive syndromes in general.

A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

PubMed

Colombi, Marina; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Ritelli, Marco

2018-01-01

The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility (gJHM) and/or at least three minor criteria that include cutaneous features and gJHM complications. Confirmatory molecular testing is obligatory to reach a final diagnosis. Although the large majority of the patients presents with these clinical features, some do not and might remain undiagnosed or misdiagnosed. Here we describe a family with 2 affected members, a 23-year-old proposita and her 51-year-old mother, who presented subtle cutaneous signs, including a variable degree of skin hyperextensibility without extensive widened atrophic scars that apparently better fitted with the overlapping hypermobile EDS. The proposita also presented gastrointestinal symptoms secondary to aberrant mast cells mediators release, making the clinical picture even more puzzling. Both patients were diagnosed by molecular testing that revealed a COL5A1 splice mutation. This report highlights the relevance of molecular analysis in patients presenting rather mild signs of EDS, especially in familial cases, and the importance of clinical expertise to make such a diagnosis. Copyright © 2017. Published by Elsevier Masson SAS.

Enduring sexual dysfunction after treatment with antidepressants, 5α-reductase inhibitors and isotretinoin: 300 cases

PubMed Central

Healy, David; Le Noury, Joanna; Mangin, Derelie

2018-01-01

OBJECTIVE: To investigate clinical reports of post-SSRI sexual dysfunction (PSSD), post-finasteride syndrome (PFS) and enduring sexual dysfunction following isotretinoin. METHODS: Data from RxISK.org, a global adverse event reporting website, have been used to establish the clinical features, demographic details and clinical trajectories of syndromes of persistent sexual difficulties following three superficially different treatment modalities. RESULTS We report on 300 cases of enduring sexual dysfunction from 37 countries following 14 different drugs comprised of serotonin reuptake inhibiting antidepressants, 5α-reductase inhibitors and isotretinoin. While reports of certain issues were unique to the antidepressants, such as the onset of premature ejaculation and persistent genital arousal disorder (PGAD), there was also a significant overlap in symptom profile between the drug groups, with common features including genital anaesthesia, pleasureless or weak orgasm, loss of libido and impotence. Secondary consequences included relationship breakdown and impaired quality of life. CONCLUSIONS These data point to a legacy syndrome or syndromes comprising a range of disturbances to sexual function. More detailed studies will require developments in coding systems that recognise the condition(s). Further exploration of these tardive sexual syndromes may yield greater understanding of tardive syndromes in general. PMID:29733030

H syndrome: the first 79 patients.

PubMed

Molho-Pessach, Vered; Ramot, Yuval; Camille, Frances; Doviner, Victoria; Babay, Sofia; Luis, Siekavizza Juan; Broshtilova, Valentina; Zlotogorski, Abraham

2014-01-01

H syndrome is an autosomal recessive genodermatosis with multisystem involvement caused by mutations in SLC29A3. We sought to investigate the clinical and molecular findings in 79 patients with this disorder. A total of 79 patients were included, of which 13 are newly reported cases. Because of the phenotypic similarity and molecular overlap with H syndrome, we included 18 patients with allelic disorders. For 31 patients described by others, data were gathered from the medical literature. The most common clinical features (>45% of patients) were hyperpigmentation, phalangeal flexion contractures, hearing loss, and short stature. Insulin-dependent diabetes mellitus and lymphadenopathy mimicking Rosai-Dorfman disease were each found in approximately 20%. Additional systemic features were described in less than 15% of cases. Marked interfamilial and intrafamilial clinical variability exists. Twenty mutations have been identified in SLC29A3, with no genotype-phenotype correlation. In the 31 patients described by others, data were collected from the medical literature. H syndrome is a multisystemic disease with clinical variability. Consequently, all SLC29A3-related diseases should be considered a single entity. Recognition of the pleomorphic nature of H syndrome is important for diagnosis of additional patients. Copyright © 2013 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Contemporary management of benign liver tumors.

PubMed

Gibbs, John F; Litwin, Alan M; Kahlenberg, Morton S

2004-04-01

Benign lesions of the liver represent diagnostic dilemmas, clinically and radiographically; however, certain clues can help the extensive differential diagnosis of both benign and malignant processes. Hemangiomas and simple cysts have very distinct and very specific radiographic characteristics, and if diagnosed, no further work-up is necessary. The remaining benign lesions have significant overlap, even though there are some more common characteristics to each of the entities. Still, differentiation of any particular lesion outside simple cysts or hemangioma may be difficult. It is reasonable and relatively simple, with minimal invasiveness, to perform US- or CT-guided, percutaneous core-needle biopsies. It is recommended that core biopsies be performed, because many of the benign entities have some overlapping histologic features, and if fine-needle aspirations are performed, a definitive diagnosis may be difficult to obtain. A definitive pathological diagnosis still cannot be made in some cases, even after needle biopsy. Therefore, a surgical resection or wedge resection may be necessary if a benign process cannot be definitively ruled out.

Results of steroid-based therapy for the hepatitis C-autoimmune hepatitis overlap syndrome.

PubMed

Schiano, T D; Te, H S; Thomas, R M; Hussain, H; Bond, K; Black, M

2001-10-01

Overlap syndromes in which persons manifest clinical, histological, or immunological features of both hepatitis C infection and autoimmune hepatitis are well described. The discordant forms of treatment for hepatitis C and autoimmune hepatitis have made medical management of these patients difficult. We report our experience in using corticosteroids as first line therapy for the hepatitis C-autoimmune hepatitis overlap syndrome. Seven patients with this overlap syndrome (diagnosis based on the presence of serum hepatitis C antibody by RIBA and serum hepatitis C RNA by polymerase chain reaction, and serum hypergammaglobulinemia, elevated ANA or ASMA titers, or histological findings consistent with autoimmune hepatitis) were treated with prednisone with or without azathioprine or cyclosporine, and followed for a median duration of 44.5 months. Five patients (71%) showed improvement of median serum ALT level from 162 U/L to 38 U/L (p = 0.04) and median serum gamma-globulin from 2.1 g/dl to 1.4 g/dl (p = 0.04) by 6 months of therapy. The mean modified histological activity index score also decreased from 11.4 +/- 2.5 to 6.6 +/- 2.6 (p = 0.04) by at least 1 yr of therapy. One patient discontinued prednisone while taking azathioprine and experienced a rebound elevation of serum ALT that did not respond to retreatment with prednisone. Antiviral therapy was subsequently administered and resulted in biochemical and virologic response. Hepatitis C virus RNA remained detectable in all other patients. Corticosteroids are beneficial as a first line therapy for some patients with the hepatitis C-autoimmune overlap syndrome, resulting in appreciable biochemical and histological response but without viral eradication.

Automatic classification and detection of clinically relevant images for diabetic retinopathy

NASA Astrophysics Data System (ADS)

Xu, Xinyu; Li, Baoxin

2008-03-01

We proposed a novel approach to automatic classification of Diabetic Retinopathy (DR) images and retrieval of clinically-relevant DR images from a database. Given a query image, our approach first classifies the image into one of the three categories: microaneurysm (MA), neovascularization (NV) and normal, and then it retrieves DR images that are clinically-relevant to the query image from an archival image database. In the classification stage, the query DR images are classified by the Multi-class Multiple-Instance Learning (McMIL) approach, where images are viewed as bags, each of which contains a number of instances corresponding to non-overlapping blocks, and each block is characterized by low-level features including color, texture, histogram of edge directions, and shape. McMIL first learns a collection of instance prototypes for each class that maximizes the Diverse Density function using Expectation- Maximization algorithm. A nonlinear mapping is then defined using the instance prototypes and maps every bag to a point in a new multi-class bag feature space. Finally a multi-class Support Vector Machine is trained in the multi-class bag feature space. In the retrieval stage, we retrieve images from the archival database who bear the same label with the query image, and who are the top K nearest neighbors of the query image in terms of similarity in the multi-class bag feature space. The classification approach achieves high classification accuracy, and the retrieval of clinically-relevant images not only facilitates utilization of the vast amount of hidden diagnostic knowledge in the database, but also improves the efficiency and accuracy of DR lesion diagnosis and assessment.

Soft-Tissue Sarcomas of the Abdomen and Pelvis: Radiologic-Pathologic Features, Part 1-Common Sarcomas: From the Radiologic Pathology Archives.

PubMed

Levy, Angela D; Manning, Maria A; Al-Refaie, Waddah B; Miettinen, Markku M

2017-01-01

Soft-tissue sarcomas are a diverse group of rare mesenchymal malignancies that can arise at any location in the body and affect all age groups. These sarcomas are most common in the extremities, trunk wall, retroperitoneum, and head and neck. In the adult population, soft-tissue sarcomas arising in the abdomen and pelvis are often large masses at the time of diagnosis because they are usually clinically silent or cause vague or mild symptoms until they invade or compress vital organs. In contrast, soft-tissue sarcomas arising from the abdominal wall come to clinical attention earlier in the course of disease because they cause a palpable mass, abdominal wall deformity, or pain that is more clinically apparent. The imaging features of abdominal and pelvic sarcomas and abdominal wall sarcomas can be nonspecific and overlap with more common pathologic conditions, making diagnosis difficult or, in some cases, delaying diagnosis. Liposarcoma (well-differentiated and dedifferentiated liposarcomas), leiomyosarcoma, and gastrointestinal stromal tumor (GIST) are the most common intra-abdominal primary sarcomas. Any soft-tissue sarcoma can arise in the abdominal wall. Knowledge of the classification and pathologic features of soft-tissue sarcomas, the anatomic locations where they occur, and their cross-sectional imaging features helps the radiologist establish the diagnosis or differential diagnosis so that patients with soft-tissue sarcomas can receive optimal treatment and management. In part 1 of this article, the most common soft-tissue sarcomas (liposarcoma, leiomyosarcoma, and GIST) are reviewed, with a discussion on anatomic locations, classification, clinical considerations, and differential diagnosis. Part 2 will focus on the remainder of the soft-tissue sarcomas occurring in the abdomen and pelvis.

Soft-Tissue Sarcomas of the Abdomen and Pelvis: Radiologic-Pathologic Features, Part 1—Common Sarcomas: From the Radiologic Pathology Archives

PubMed Central

Manning, Maria A.; Al-Refaie, Waddah B.; Miettinen, Markku M.

2017-01-01

Soft-tissue sarcomas are a diverse group of rare mesenchymal malignancies that can arise at any location in the body and affect all age groups. These sarcomas are most common in the extremities, trunk wall, retroperitoneum, and head and neck. In the adult population, soft-tissue sarcomas arising in the abdomen and pelvis are often large masses at the time of diagnosis because they are usually clinically silent or cause vague or mild symptoms until they invade or compress vital organs. In contrast, soft-tissue sarcomas arising from the abdominal wall come to clinical attention earlier in the course of disease because they cause a palpable mass, abdominal wall deformity, or pain that is more clinically apparent. The imaging features of abdominal and pelvic sarcomas and abdominal wall sarcomas can be nonspecific and overlap with more common pathologic conditions, making diagnosis difficult or, in some cases, delaying diagnosis. Liposarcoma (well-differentiated and dedifferentiated liposarcomas), leiomyosarcoma, and gastrointestinal stromal tumor (GIST) are the most common intra-abdominal primary sarcomas. Any soft-tissue sarcoma can arise in the abdominal wall. Knowledge of the classification and pathologic features of soft-tissue sarcomas, the anatomic locations where they occur, and their cross-sectional imaging features helps the radiologist establish the diagnosis or differential diagnosis so that patients with soft-tissue sarcomas can receive optimal treatment and management. In part 1 of this article, the most common soft-tissue sarcomas (liposarcoma, leiomyosarcoma, and GIST) are reviewed, with a discussion on anatomic locations, classification, clinical considerations, and differential diagnosis. Part 2 will focus on the remainder of the soft-tissue sarcomas occurring in the abdomen and pelvis. PMID:28287938

Lewy Body Dementias: Dementia With Lewy Bodies and Parkinson Disease Dementia

PubMed Central

Gomperts, Stephen N.

2016-01-01

ABSTRACT Purpose of Review: This article provides an overview of the clinical features, neuropathologic findings, diagnostic criteria, and management of dementia with Lewy bodies (DLB) and Parkinson disease dementia (PDD), together known as the Lewy body dementias. Recent Findings: DLB and PDD are common, clinically similar syndromes that share characteristic neuropathologic changes, including deposition of α-synuclein in Lewy bodies and neurites and loss of tegmental dopamine cell populations and basal forebrain cholinergic populations, often with a variable degree of coexisting Alzheimer pathology. The clinical constellations of DLB and PDD include progressive cognitive impairment associated with parkinsonism, visual hallucinations, and fluctuations of attention and wakefulness. Current clinical diagnostic criteria emphasize these features and also weigh evidence for dopamine cell loss measured with single-photon emission computed tomography (SPECT) imaging and for rapid eye movement (REM) sleep behavior disorder, a risk factor for the synucleinopathies. The timing of dementia relative to parkinsonism is the major clinical distinction between DLB and PDD, with dementia arising in the setting of well-established idiopathic Parkinson disease (after at least 1 year of motor symptoms) denoting PDD, while earlier cognitive impairment relative to parkinsonism denotes DLB. The distinction between these syndromes continues to be an active research question. Treatment for these illnesses remains symptomatic and relies on both pharmacologic and nonpharmacologic strategies. Summary: DLB and PDD are important and common dementia syndromes that overlap in their clinical features, neuropathology, and management. They are believed to exist on a spectrum of Lewy body disease, and some controversy persists in their differentiation. Given the need to optimize cognition, extrapyramidal function, and psychiatric health, management can be complex and should be systematic. PMID:27042903

American Thoracic Society/National Heart, Lung, and Blood Institute Asthma-Chronic Obstructive Pulmonary Disease Overlap Workshop Report.

PubMed

Woodruff, Prescott G; van den Berge, Maarten; Boucher, Richard C; Brightling, Christopher; Burchard, Esteban G; Christenson, Stephanie A; Han, MeiLan K; Holtzman, Michael J; Kraft, Monica; Lynch, David A; Martinez, Fernando D; Reddel, Helen K; Sin, Don D; Washko, George R; Wenzel, Sally E; Punturieri, Antonello; Freemer, Michelle M; Wise, Robert A

2017-08-01

Asthma and chronic obstructive pulmonary disease (COPD) are highly prevalent chronic obstructive lung diseases with an associated high burden of disease. Asthma, which is often allergic in origin, frequently begins in infancy or childhood with variable airflow obstruction and intermittent wheezing, cough, and dyspnea. Patients with COPD, in contrast, are usually current or former smokers who present after the age of 40 years with symptoms (often persistent) including dyspnea and a productive cough. On the basis of age and smoking history, it is often easy to distinguish between asthma and COPD. However, some patients have features compatible with both diseases. Because clinical studies typically exclude these patients, their underlying disease mechanisms and appropriate treatment remain largely uncertain. To explore the status of and opportunities for research in this area, the NHLBI, in partnership with the American Thoracic Society, convened a workshop of investigators in San Francisco, California on May 14, 2016. At the workshop, current understanding of asthma-COPD overlap was discussed among clinicians, pathologists, radiologists, epidemiologists, and investigators with expertise in asthma and COPD. They considered knowledge gaps in our understanding of asthma-COPD overlap and identified strategies and research priorities that will advance its understanding. This report summarizes those discussions.

Muscle pain in the head: overlap between temporomandibular disorders and tension-type headaches.

PubMed

Svensson, Peter

2007-06-01

A variety of painful problems can affect the muscles in the head and face. Both temporomandibular disorders and tension-type headaches are believed to have a significant contribution from the skeletal muscles and have several clinical features in common. It still unclear, however, to what extent these two prevalent disorders are separate entities or have similar pathophysiological background. There is now reasonably good evidence that myofascial temporomandibular disorder patients are more likely to have a tension-type headache problem and vice versa, but the overlap is not complete. Studies have documented similarities regarding sensitization of the nociceptive pathways, dysfunction of the endogenous pain modulatory systems as well as contributing genetic factors, but there are also a number of distinct differences between temporomandibular disorders and tension-type headaches that need to be considered. Using the current classification systems, myofascial temporomandibular disorder pain and tension-type headache disorders do overlap and appear to share many of the same pathophysiological mechanisms, but it would be premature to consider them as identical entities since the importance of, for example, the affected muscles and associated function and genetic background needs to be established. Orofacial pain and headache specialists should collaborate to further develop diagnostic procedures and management strategies of temporomandibular disorders and tension-type headaches.

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.

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.

PubMed

Maggi, Lorenzo; Ravaglia, Sabrina; Farinato, Alessandro; Brugnoni, Raffaella; Altamura, Concetta; Imbrici, Paola; Camerino, Diana Conte; Padovani, Alessandro; Mantegazza, Renato; Bernasconi, Pia; Desaphy, Jean-François; Filosto, Massimiliano

2017-12-01

Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes. Functional characterization of N1297S hNav1.4 mutant was performed by patch clamp. The patients displayed a mild phenotype, mostly resembling a sodium channel myotonia. The CLCN1 c.501C>G (p.F167L) mutation has been already described in recessive pedigrees, whereas the SCN4A c.3890A>G (p.N1297S) variation is novel. Patch clamp experiments showed impairment of fast and slow inactivation of the mutated Nav1.4 sodium channel. The present findings suggest that analysis of both SCN4A and CLCN1 genes should be considered in myotonic patients with atypical clinical and neurophysiological features.

Spectrum of Clinical Diseases Caused By Disorders of Primary Cilia

PubMed Central

Aygun, Meral Gunay-; Hildebrandt, Friedhelm

2011-01-01

The ciliopathies are a category of diseases caused by disruption of the physiological functions of cilia. Ciliary dysfunction results in a broad range of phenotypes, including renal, hepatic, and pancreatic cyst formation; situs abnormalities; retinal degeneration; anosmia; cerebellar or other brain anomalies; postaxial polydactyly; bronchiectasis; and infertility. The specific clinical features are dictated by the subtype, structure, distribution, and function of the affected cilia. This review highlights the clinical variability caused by dysfunction of motile and nonmotile primary cilia and emphasizes the genetic heterogeneity and phenotypic overlap that are characteristics of these disorders. There is a need for additional research to understand the shared and unique functions of motile and nonmotile cilia and the pathophysiology resulting from mutations in cilia, basal bodies, or centrosomes. Increased understanding of ciliary biology will improve the diagnosis and management of primary ciliary dyskinesia, syndromic ciliopathies, and cilia-related cystic diseases. PMID:21926397

On the ground state of Yang-Mills theory

NASA Astrophysics Data System (ADS)

Bakry, Ahmed S.; Leinweber, Derek B.; Williams, Anthony G.

2011-08-01

We investigate the overlap of the ground state meson potential with sets of mesonic-trial wave functions corresponding to different gluonic distributions. We probe the transverse structure of the flux tube through the creation of non-uniform smearing profiles for the string of glue connecting two color sources in Wilson loop operator. The non-uniformly UV-regulated flux-tube operators are found to optimize the overlap with the ground state and display interesting features in the ground state overlap.

Post-traumatic stress disorder: the neurobiological impact of psychological trauma

PubMed Central

Sherin, Jonathan E.; Nemeroff, Charles B.

2011-01-01

The classic fight-or-flight response to perceived threat is a reflexive nervous phenomenon thai has obvious survival advantages in evolutionary terms. However, the systems that organize the constellation of reflexive survival behaviors following exposure to perceived threat can under some circumstances become dysregulated in the process. Chronic dysregulation of these systems can lead to functional impairment in certain individuals who become “psychologically traumatized” and suffer from post-traumatic stress disorder (PTSD), A body of data accumulated over several decades has demonstrated neurobiological abnormalities in PTSD patients. Some of these findings offer insight into the pathophysiology of PTSD as well as the biological vulnerability of certain populations to develop PTSD, Several pathological features found in PTSD patients overlap with features found in patients with traumatic brain injury paralleling the shared signs and symptoms of these clinical syndromes. PMID:22034143

Influence of slice overlap on positron emission tomography image quality

NASA Astrophysics Data System (ADS)

McKeown, Clare; Gillen, Gerry; Dempsey, Mary Frances; Findlay, Caroline

2016-02-01

PET scans use overlapping acquisition beds to correct for reduced sensitivity at bed edges. The optimum overlap size for the General Electric (GE) Discovery 690 has not been established. This study assesses how image quality is affected by slice overlap. Efficacy of 23% overlaps (recommended by GE) and 49% overlaps (maximum possible overlap) were specifically assessed. European Association of Nuclear Medicine (EANM) guidelines for calculating minimum injected activities based on overlap size were also reviewed. A uniform flood phantom was used to assess noise (coefficient of variation, (COV)) and voxel accuracy (activity concentrations, Bq ml-1). A NEMA (National Electrical Manufacturers Association) body phantom with hot/cold spheres in a background activity was used to assess contrast recovery coefficients (CRCs) and signal to noise ratios (SNR). Different overlap sizes and sphere-to-background ratios were assessed. COVs for 49% and 23% overlaps were 9% and 13% respectively. This increased noise was difficult to visualise on the 23% overlap images. Mean voxel activity concentrations were not affected by overlap size. No clinically significant differences in CRCs were observed. However, visibility and SNR of small, low contrast spheres (⩽13 mm diameter, 2:1 sphere to background ratio) may be affected by overlap size in low count studies if they are located in the overlap area. There was minimal detectable influence on image quality in terms of noise, mean activity concentrations or mean CRCs when comparing 23% overlap with 49% overlap. Detectability of small, low contrast lesions may be affected in low count studies—however, this is a worst-case scenario. The marginal benefits of increasing overlap from 23% to 49% are likely to be offset by increased patient scan times. A 23% overlap is therefore appropriate for clinical use. An amendment to EANM guidelines for calculating injected activities is also proposed which better reflects the effect overlap size has on image noise.

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.

Soft-Tissue Infections and Their Imaging Mimics: From Cellulitis to Necrotizing Fasciitis.

PubMed

Hayeri, Mohammad Reza; Ziai, Pouya; Shehata, Monda L; Teytelboym, Oleg M; Huang, Brady K

2016-10-01

Infection of the musculoskeletal system can be associated with high mortality and morbidity if not promptly and accurately diagnosed. These infections are generally diagnosed and managed clinically; however, clinical and laboratory findings sometimes lack sensitivity and specificity, and a definite diagnosis may not be possible. In uncertain situations, imaging is frequently performed to confirm the diagnosis, evaluate the extent of the disease, and aid in treatment planning. In particular, cross-sectional imaging, including computed tomography and magnetic resonance imaging, provides detailed anatomic information in the evaluation of soft tissues due to their inherent high spatial and contrast resolution. Imaging findings of soft-tissue infections can be nonspecific and can have different appearances depending on the depth and anatomic extent of tissue involvement. Although many imaging features of infectious disease can overlap with noninfectious processes, imaging can help establish the diagnosis when combined with the clinical history and laboratory findings. Radiologists should be familiar with the spectrum of imaging findings of soft-tissue infections to better aid the referring physician in managing these patients. The aim of this article is to review the spectrum of soft-tissue infections using a systematic anatomic compartment approach. We discuss the clinical features of soft-tissue infections, their imaging findings with emphasis on cross-sectional imaging, their potential mimics, and clinical management. © RSNA, 2016.

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases.

PubMed

Guerreiro, Rita; Escott-Price, Valentina; Darwent, Lee; Parkkinen, Laura; Ansorge, Olaf; Hernandez, Dena G; Nalls, Michael A; Clark, Lorraine; Honig, Lawrence; Marder, Karen; van der Flier, Wiesje; Holstege, Henne; Louwersheimer, Eva; Lemstra, Afina; Scheltens, Philip; Rogaeva, Ekaterina; St George-Hyslop, Peter; Londos, Elisabet; Zetterberg, Henrik; Ortega-Cubero, Sara; Pastor, Pau; Ferman, Tanis J; Graff-Radford, Neill R; Ross, Owen A; Barber, Imelda; Braae, Anne; Brown, Kristelle; Morgan, Kevin; Maetzler, Walter; Berg, Daniela; Troakes, Claire; Al-Sarraj, Safa; Lashley, Tammaryn; Compta, Yaroslau; Revesz, Tamas; Lees, Andrew; Cairns, Nigel J; Halliday, Glenda M; Mann, David; Pickering-Brown, Stuart; Powell, John; Lunnon, Katie; Lupton, Michelle K; Dickson, Dennis; Hardy, John; Singleton, Andrew; Bras, Jose

2016-02-01

The similarities between dementia with Lewy bodies (DLB) and both Parkinson's disease (PD) and Alzheimer's disease (AD) are many and range from clinical presentation, to neuropathological characteristics, to more recently identified, genetic determinants of risk. Because of these overlapping features, diagnosing DLB is challenging and has clinical implications since some therapeutic agents that are applicable in other diseases have adverse effects in DLB. Having shown that DLB shares some genetic risk with PD and AD, we have now quantified the amount of sharing through the application of genetic correlation estimates, and show that, from a purely genetic perspective, and excluding the strong association at the APOE locus, DLB is equally correlated to AD and PD. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

Anti-N-Methyl-D-aspartate Receptor Encephalitis: A Severe, Potentially Reversible Autoimmune Encephalitis.

PubMed

Liu, Cai-Yun; Zhu, Jie; Zheng, Xiang-Yu; Ma, Chi; Wang, Xu

2017-01-01

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is potentially lethal, but it is also a treatable autoimmune disorder characterized by prominent psychiatric and neurologic symptoms. It is often accompanied with teratoma or other neoplasm, especially in female patients. Anti-NMDAR antibodies in cerebrospinal fluid (CSF) and serum are characteristic features of the disease, thereby suggesting a pathogenic role in the disease. Here, we summarize recent studies that have clearly documented that both clinical manifestations and the antibodies may contribute to early diagnosis and multidisciplinary care. The clinical course of the disorder is reversible and the relapse could occur in some patients. Anti-NMDAR encephalitis coexisting with demyelinating disorders makes the diagnosis more complex; thus, clinicians should be aware of the overlapping diseases.

Anti-N-Methyl-D-aspartate Receptor Encephalitis: A Severe, Potentially Reversible Autoimmune Encephalitis

PubMed Central

Liu, Cai-yun; Zheng, Xiang-Yu; Ma, Chi

2017-01-01

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is potentially lethal, but it is also a treatable autoimmune disorder characterized by prominent psychiatric and neurologic symptoms. It is often accompanied with teratoma or other neoplasm, especially in female patients. Anti-NMDAR antibodies in cerebrospinal fluid (CSF) and serum are characteristic features of the disease, thereby suggesting a pathogenic role in the disease. Here, we summarize recent studies that have clearly documented that both clinical manifestations and the antibodies may contribute to early diagnosis and multidisciplinary care. The clinical course of the disorder is reversible and the relapse could occur in some patients. Anti-NMDAR encephalitis coexisting with demyelinating disorders makes the diagnosis more complex; thus, clinicians should be aware of the overlapping diseases. PMID:28698711

Molecular genetics of chronic neutrophilic leukemia, chronic myelomonocytic leukemia and atypical chronic myeloid leukemia.

PubMed

Li, Bing; Gale, Robert Peter; Xiao, Zhijian

2014-12-12

According to the 2008 World Health Organization classification, chronic neutrophilic leukemia, chronic myelomonocytic leukemia and atypical chronic myeloid leukemia are rare diseases. The remarkable progress in our understanding of the molecular genetics of myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms has made it clear that there are some specific genetic abnormalities in these 3 rare diseases. At the same time, there is considerable overlap among these disorders at the molecular level. The various combinations of genetic abnormalities indicate a multi-step pathogenesis, which likely contributes to the marked clinical heterogeneity of these disorders. This review focuses on the current knowledge and challenges related to the molecular pathogenesis of chronic neutrophilic leukemia, chronic myelomonocytic leukemia and atypical chronic myeloid leukemia and relationships between molecular findings, clinical features and prognosis.

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

PubMed

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

2015-04-01

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

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

PubMed Central

Williams, Stephen R.; Aldred, Micheala A.; Der Kaloustian, Vazken M.; Halal, Fahed; Gowans, Gordon; McLeod, D. Ross; Zondag, Sara; Toriello, Helga V.; Magenis, R. Ellen; Elsea, Sarah H.

2010-01-01

Brachydactyly mental retardation syndrome (BDMR) is associated with a deletion involving chromosome 2q37. BDMR presents with a range of features, including intellectual disabilities, developmental delays, behavioral abnormalities, sleep disturbance, craniofacial and skeletal abnormalities (including brachydactyly type E), and autism spectrum disorder. To date, only large deletions of 2q37 have been reported, making delineation of a critical region and subsequent identification of candidate genes difficult. We present clinical and molecular analysis of six individuals with overlapping deletions involving 2q37.3 that refine the critical region, reducing the candidate genes from >20 to a single gene, histone deacetylase 4 (HDAC4). Driven by the distinct hand and foot anomalies and similar cognitive features, we identified other cases with clinical findings consistent with BDMR but without a 2q37 deletion, and sequencing of HDAC4 identified de novo mutations, including one intragenic deletion probably disrupting normal splicing and one intragenic insertion that results in a frameshift and premature stop codon. HDAC4 is a histone deacetylase that regulates genes important in bone, muscle, neurological, and cardiac development. Reportedly, Hdac4−/− mice have severe bone malformations resulting from premature ossification of developing bones. Data presented here show that deletion or mutation of HDAC4 results in reduced expression of RAI1, which causes Smith-Magenis syndrome when haploinsufficient, providing a link to the overlapping findings in these disorders. Considering the known molecular function of HDAC4 and the mouse knockout phenotype, taken together with deletion or mutation of HDAC4 in multiple subjects with BDMR, we conclude that haploinsufficiency of HDAC4 results in brachydactyly mental retardation syndrome. PMID:20691407

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

PubMed

Williams, Stephen R; Aldred, Micheala A; Der Kaloustian, Vazken M; Halal, Fahed; Gowans, Gordon; McLeod, D Ross; Zondag, Sara; Toriello, Helga V; Magenis, R Ellen; Elsea, Sarah H

2010-08-13

Brachydactyly mental retardation syndrome (BDMR) is associated with a deletion involving chromosome 2q37. BDMR presents with a range of features, including intellectual disabilities, developmental delays, behavioral abnormalities, sleep disturbance, craniofacial and skeletal abnormalities (including brachydactyly type E), and autism spectrum disorder. To date, only large deletions of 2q37 have been reported, making delineation of a critical region and subsequent identification of candidate genes difficult. We present clinical and molecular analysis of six individuals with overlapping deletions involving 2q37.3 that refine the critical region, reducing the candidate genes from >20 to a single gene, histone deacetylase 4 (HDAC4). Driven by the distinct hand and foot anomalies and similar cognitive features, we identified other cases with clinical findings consistent with BDMR but without a 2q37 deletion, and sequencing of HDAC4 identified de novo mutations, including one intragenic deletion probably disrupting normal splicing and one intragenic insertion that results in a frameshift and premature stop codon. HDAC4 is a histone deacetylase that regulates genes important in bone, muscle, neurological, and cardiac development. Reportedly, Hdac4(-/-) mice have severe bone malformations resulting from premature ossification of developing bones. Data presented here show that deletion or mutation of HDAC4 results in reduced expression of RAI1, which causes Smith-Magenis syndrome when haploinsufficient, providing a link to the overlapping findings in these disorders. Considering the known molecular function of HDAC4 and the mouse knockout phenotype, taken together with deletion or mutation of HDAC4 in multiple subjects with BDMR, we conclude that haploinsufficiency of HDAC4 results in brachydactyly mental retardation syndrome.

Conceptualising humiliation.

PubMed

Elshout, Maartje; Nelissen, Rob M A; van Beest, Ilja

2017-12-01

Humiliation lacks an empirically derived definition, sometimes simply being equated with shame. We approached the conceptualisation of humiliation from a prototype perspective, identifying 61 features of humiliation, some of which are more central to humiliation (e.g. losing self-esteem) than others (e.g. shyness). Prototypical humiliation involved feeling powerless, small, and inferior in a situation in which one was brought down and in which an audience was present, leading the person to appraise the situation as unfair and resulting in a mix of emotions, most notably disappointment, anger, and shame. Some of the features overlapped with those of shame (e.g. looking like a fool, losing self-esteem, presence of an audience) whereas other features overlapped with those of anger (e.g. being brought down, unfairness). Which specific features are present may determine whether the humiliation experience becomes more shame- or anger-like (or a combination thereof).

Corticobasal degeneration.

PubMed

Stover, N P; Watts, R L

2001-01-01

Corticobasal degeneration (CBG) is an increasingly recognized neurodegenerative disease with both motor and cognitive dysfunction. The diagnosis is probably underestimated because of the heterogeneity of clinical features, overlap with symptoms, and pathologic findings of other neurodegenerative diseases. The most characteristic initial motor symptoms are akinesia, rigidity, and apraxia. Dystonia and alien limb phenomena are frequently observed. There is often a parkinsonian picture with failure or lack of efficacy of dopaminergic medical therapy. Cognitive decline, prompting the diagnosis of dementia, may be the most common presentation of CBD that is misdiagnosed. Pathology is characterized by an asymmetric frontoparietal neuronal loss and gliosis with ballooned, achromatic cortical neurons, nigral degeneration, and variable subcortical involvement. Neuroimaging and electrophysiologic studies may help with the diagnosis but are not specific. Treatment is primarily symptomatic and minimally effective, especially after the first several years of symptoms. CBD should be considered in the differential diagnosis of patients with motor and cognitive dysfunction presenting with cortical and subcortical features. Further studies to elucidate molecular abnormalities and biological markers associated with CBD are needed to improve clinical diagnosis and treatment of patients with this disorder.

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

PubMed

Jurkiewicz, Dorota; Kugaudo, Monika; Tańska, Anna; Wawrzkiewicz-Witkowska, Angelika; Tomaszewska, Agnieszka; Kucharczyk, Marzena; Cieślikowska, Agata; Ciara, Elżbieta; Krajewska-Walasek, Małgorzata

2015-06-01

Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith-Wiedemann syndrome (BWS) and moderate deficiency of factor VII (FVII). The duplication was initially diagnosed on methylation-sensitive multiplex ligation-dependent probe amplification. Array comparative genome hybridization confirmed its presence and indicated a 13q34 distal deletion. The patient's clinical symptoms, including developmental delay and facial dysmorphism, were typical of BWS with paternal 11p15 trisomy. Partial 13q monosomy in this patient is associated with moderate deficiency of FVII and may also overlap with a few symptoms of paternal 11p15 trisomy such as developmental delay and some facial features. To our knowledge this is the first report of 11p15.4p15.5 duplication associated with deletion of 13q34 and FVII deficiency. Moreover, this report emphasizes the importance of detailed clinical as well as molecular examinations in patients with BWS features and developmental delay. © 2015 Japan Pediatric Society.

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

PubMed

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

2018-03-02

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

Drawing on Text Features for Reading Comprehension and Composing

ERIC Educational Resources Information Center

Risko, Victoria J.; Walker-Dalhouse, Doris

2011-01-01

Students read multiple-genre texts such as graphic novels, poetry, brochures, digitized texts with videos, and informational and narrative texts. Features such as overlapping illustrations and implied cause-and-effect relationships can affect students' comprehension. Teaching with these texts and drawing attention to organizational features hold…

Critically Ill Patients With the Middle East Respiratory Syndrome: A Multicenter Retrospective Cohort Study.

PubMed

Arabi, Yaseen M; Al-Omari, Awad; Mandourah, Yasser; Al-Hameed, Fahad; Sindi, Anees A; Alraddadi, Basem; Shalhoub, Sarah; Almotairi, Abdullah; Al Khatib, Kasim; Abdulmomen, Ahmed; Qushmaq, Ismael; Mady, Ahmed; Solaiman, Othman; Al-Aithan, Abdulsalam M; Al-Raddadi, Rajaa; Ragab, Ahmed; Al Mekhlafi, Ghaleb A; Al Harthy, Abdulrahman; Kharaba, Ayman; Ahmadi, Mashael Al; Sadat, Musharaf; Mutairi, Hanan Al; Qasim, Eman Al; Jose, Jesna; Nasim, Maliha; Al-Dawood, Abdulaziz; Merson, Laura; Fowler, Robert; Hayden, Frederick G; Balkhy, Hanan H

2017-10-01

To describe patient characteristics, clinical manifestations, disease course including viral replication patterns, and outcomes of critically ill patients with severe acute respiratory infection from the Middle East respiratory syndrome and to compare these features with patients with severe acute respiratory infection due to other etiologies. Retrospective cohort study. Patients admitted to ICUs in 14 Saudi Arabian hospitals. Critically ill patients with laboratory-confirmed Middle East respiratory syndrome severe acute respiratory infection (n = 330) admitted between September 2012 and October 2015 were compared to consecutive critically ill patients with community-acquired severe acute respiratory infection of non-Middle East respiratory syndrome etiology (non-Middle East respiratory syndrome severe acute respiratory infection) (n = 222). None. Although Middle East respiratory syndrome severe acute respiratory infection patients were younger than those with non-Middle East respiratory syndrome severe acute respiratory infection (median [quartile 1, quartile 3] 58 yr [44, 69] vs 70 [52, 78]; p < 0.001), clinical presentations and comorbidities overlapped substantially. Patients with Middle East respiratory syndrome severe acute respiratory infection had more severe hypoxemic respiratory failure (PaO2/FIO2: 106 [66, 160] vs 176 [104, 252]; p < 0.001) and more frequent nonrespiratory organ failure (nonrespiratory Sequential Organ Failure Assessment score: 6 [4, 9] vs 5 [3, 7]; p = 0.002), thus required more frequently invasive mechanical ventilation (85.2% vs 73.0%; p < 0.001), oxygen rescue therapies (extracorporeal membrane oxygenation 5.8% vs 0.9%; p = 0.003), vasopressor support (79.4% vs 55.0%; p < 0.001), and renal replacement therapy (48.8% vs 22.1%; p < 0.001). After adjustment for potential confounding factors, Middle East respiratory syndrome was independently associated with death compared to non-Middle East respiratory syndrome severe acute respiratory infection (adjusted odds ratio, 5.87; 95% CI, 4.02-8.56; p < 0.001). Substantial overlap exists in the clinical presentation and comorbidities among patients with Middle East respiratory syndrome severe acute respiratory infection from other etiologies; therefore, a high index of suspicion combined with diagnostic testing is essential component of severe acute respiratory infection investigation for at-risk patients. The lack of distinguishing clinical features, the need to rely on real-time reverse transcription polymerase chain reaction from respiratory samples, variability in viral shedding duration, lack of effective therapy, and high mortality represent substantial clinical challenges and help guide ongoing clinical research efforts.

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.

Acute interstitial pneumonia (AIP): relationship to Hamman-Rich syndrome, diffuse alveolar damage (DAD), and acute respiratory distress syndrome (ARDS).

PubMed

Mukhopadhyay, Sanjay; Parambil, Joseph G

2012-10-01

Acute interstitial pneumonia (AIP) is a term used for an idiopathic form of acute lung injury characterized clinically by acute respiratory failure with bilateral lung infiltrates and histologically by diffuse alveolar damage (DAD), a combination of findings previously known as the Hamman-Rich syndrome. This review aims to clarify the diagnostic criteria of AIP, its relationship with DAD and acute respiratory distress syndrome (ARDS), key etiologies that need to be excluded before making the diagnosis, and the salient clinical features. Cases that meet clinical and pathologic criteria for AIP overlap substantially with those that fulfill clinical criteria for ARDS. The main differences between AIP and ARDS are that AIP requires a histologic diagnosis of DAD and exclusion of known etiologies. AIP should also be distinguished from "acute exacerbation of IPF," a condition in which acute lung injury (usually DAD) supervenes on underlying usual interstitial pneumonia (UIP)/idiopathic pulmonary fibrosis (IPF). Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

[A clinical trial of acetazolamide for SCA6].

PubMed

Yabe, I; Sasaki, H; Yamashita, I; Takei, A; Fukazawa, T; Hamada, T; Tashiro, K

1999-08-01

Spinocerebellar ataxia type 6 (SCA 6) is an allelic disorder of episodic ataxia type 2 (EA 2) and is caused by a small CAG repeat expansion in the gene encoding the alpha 1A-voltage-dependent-Ca channel subunit (CACNA 1 A) on chromosome 19p13.1. The disorder starts at adulthood with progressive cerebellar ataxia, and the symptoms often fluctuate at early stage. These clinical features overlap with those of EA 2, which has been known as acetazolamide-responsive ataxia. On this background, we studied the clinical effectiveness of acetazolamide for SCA 6 in 9 consecutive patients. Their clinical severity was serially evaluated by ARS (ataxia rating scale) and gravimetric test, over 32 weeks of oral administration of acetazolamide (250-500 mg/day). Consequently, a significant improvement was observed in ARS and postural sway. Our results indicate that acetazolamide is temporally effective for ameliorating the symptoms of SCA 6. However, its effects for the disease progression need to be examined in more large scales in number and duration.

Automated isotope identification algorithm using artificial neural networks

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

Kamuda, Mark; Stinnett, Jacob; Sullivan, Clair

There is a need to develop an algorithm that can determine the relative activities of radio-isotopes in a large dataset of low-resolution gamma-ray spectra that contains a mixture of many radio-isotopes. Low-resolution gamma-ray spectra that contain mixtures of radio-isotopes often exhibit feature over-lap, requiring algorithms that can analyze these features when overlap occurs. While machine learning and pattern recognition algorithms have shown promise for the problem of radio-isotope identification, their ability to identify and quantify mixtures of radio-isotopes has not been studied. Because machine learning algorithms use abstract features of the spectrum, such as the shape of overlapping peaks andmore » Compton continuum, they are a natural choice for analyzing radio-isotope mixtures. An artificial neural network (ANN) has be trained to calculate the relative activities of 32 radio-isotopes in a spectrum. Furthermore, the ANN is trained with simulated gamma-ray spectra, allowing easy expansion of the library of target radio-isotopes. In this paper we present our initial algorithms based on an ANN and evaluate them against a series measured and simulated spectra.« less

Automated isotope identification algorithm using artificial neural networks

DOE PAGES

Kamuda, Mark; Stinnett, Jacob; Sullivan, Clair

2017-04-12

There is a need to develop an algorithm that can determine the relative activities of radio-isotopes in a large dataset of low-resolution gamma-ray spectra that contains a mixture of many radio-isotopes. Low-resolution gamma-ray spectra that contain mixtures of radio-isotopes often exhibit feature over-lap, requiring algorithms that can analyze these features when overlap occurs. While machine learning and pattern recognition algorithms have shown promise for the problem of radio-isotope identification, their ability to identify and quantify mixtures of radio-isotopes has not been studied. Because machine learning algorithms use abstract features of the spectrum, such as the shape of overlapping peaks andmore » Compton continuum, they are a natural choice for analyzing radio-isotope mixtures. An artificial neural network (ANN) has be trained to calculate the relative activities of 32 radio-isotopes in a spectrum. Furthermore, the ANN is trained with simulated gamma-ray spectra, allowing easy expansion of the library of target radio-isotopes. In this paper we present our initial algorithms based on an ANN and evaluate them against a series measured and simulated spectra.« less

Type 1 and type 2 diabetes mellitus: are they mutually exclusive?

PubMed

Fatima, Aziz; Khawaja, Khadija Irfan; Burney, Saira; Minhas, Khushroo; Mumtaz, Usman; Masud, Faisal

2013-07-01

With advancement in the understanding of the pathogenesis underlying diabetes mellitus (DM), the boundary between type 1 and type 2 DM (T1DM and T2DM) does not seem to be as clear cut as previously thought. This study was designed to test the possibility of overlap between the spectra of immune-mediated DM and insulin resistance. To test for the possibility of overlap, we looked for autoantibodies typical of T1DM in patients with classical T2DM, and insulin resistance in patients with T1DM. Autoantibodies against islet cell antigen, glutamic acid decarboxylase-65 and insulinoma-associated antigen-2 were tested in 82 patients with T2DM and 27 patients with T1DM. The patients had been diagnosed on clinical criteria using standard laboratory techniques. Clinical parameters of diagnostic importance were noted, and homeostatic model assessment of insulin resistance (HOMA-IR) was calculated using fasting insulin and fasting blood glucose ratio. Autoantibodies against one or more beta cell antigens were detected in 12.19% of patients clinically diagnosed to have T2DM, and insulin resistance (HOMA-IR > 2.5) was diagnosed in 37.03% of patients with T1DM. It was not possible to identify any combination of clinical or biochemical markers that could predict autoantibody positivity in T2DM patients. T1DM patients with insulin resistance had a significantly higher body mass index than their insulin-sensitive counterparts (p = 0.02). Autoantibodies against beta cell antigens are detectable in insulin-resistant T2DM patients, and insulin resistance may be present in relatively overweight T1DM patients. No differentiating clinical features that might predict autoantibody positivity in T2DM patients were found.

Imaging Diagnosis of Splanchnic Venous Thrombosis

PubMed Central

Rajesh, S.; Mukund, Amar

2015-01-01

Splanchnic vein thrombosis (SVT) is a broad term that includes Budd-Chiari syndrome and occlusion of veins that constitute the portal venous system. Due to the common risk factors involved in the pathogenesis of these clinically distinct disorders, concurrent involvement of two different regions is quite common. In acute and subacute SVT, the symptoms may overlap with a variety of other abdominal emergencies while in chronic SVT, the extent of portal hypertension and its attendant complications determine the clinical course. As a result, clinical diagnosis is often difficult and is frequently reliant on imaging. Tremendous improvements in vascular imaging in recent years have ensured that this once rare entity is being increasingly detected. Treatment of acute SVT requires immediate anticoagulation. Transcatheter thrombolysis or transjugular intrahepatic portosystemic shunt is used in the event of clinical deterioration. In cases with peritonitis, immediate laparotomy and bowel resection may be required for irreversible bowel ischemia. In chronic SVT, the underlying cause should be identified and treated. The imaging manifestations of the clinical syndromes resulting from SVT are comprehensively discussed here along with a brief review of the relevant clinical features and therapeutic approach. PMID:26600801

Autism and Schizophrenia in High Functioning Adults: Behavioral Differences and Overlap

ERIC Educational Resources Information Center

Spek, Annelies A.; Wouters, Saskia G. M.

2010-01-01

Several recent studies have demonstrated a genetical overlap between autism and schizophrenia. However, at a behavioral level it remains unclear which features can validly distinguish adults with autism from an adult schizophrenia group. To this end, the present study compared 21 individuals with the autistic disorder and 21 individuals with…

Autism and ADHD: Overlapping and Discriminating Symptoms

ERIC Educational Resources Information Center

Mayes, Susan Dickerson; Calhoun, Susan L.; Mayes, Rebecca D.; Molitoris, Sarah

2012-01-01

Children with ADHD and autism have some similar features, complicating a differential diagnosis. The purpose of our study was to determine the degree to which core ADHD and autistic symptoms overlap in and discriminate between children 2-16 years of age with autism and ADHD. Our study demonstrated that 847 children with autism were easily…

Diagnosis and Management of Autoimmune Hepatitis: Current Status and Future Directions

PubMed Central

Czaja, Albert J.

2016-01-01

Autoimmune hepatitis is characterized by autoantibodies, hypergammaglobulinemia, and interface hepatitis on histological examination. The features lack diagnostic specificity, and other diseases that may resemble autoimmune hepatitis must be excluded. The clinical presentation may be acute, acute severe (fulminant), or asymptomatic; conventional autoantibodies may be absent; centrilobular necrosis and bile duct changes may be present; and the disease may occur after liver transplantation or with features that suggest overlapping disorders. The diagnostic criteria have been codified, and diagnostic scoring systems can support clinical judgment. Nonstandard autoantibodies, including antibodies to actin, α-actinin, soluble liver antigen, perinuclear antineutrophil antigen, asialoglycoprotein receptor, and liver cytosol type 1, are tools that can support the diagnosis, especially in patients with atypical features. Prednisone or prednisolone in combination with azathioprine is the preferred treatment, and strategies using these medications in various doses can ameliorate treatment failure, incomplete response, drug intolerance, and relapse after drug withdrawal. Budesonide, mycophenolate mofetil, and calcineurin inhibitors can be considered in selected patients as frontline or salvage therapies. Molecular (recombinant proteins and monoclonal antibodies), cellular (adoptive transfer and antigenic manipulation), and pharmacological (antioxidants, antifibrotics, and antiapoptotic agents) interventions constitute future directions in management. The evolving knowledge of the pathogenic pathways and the advances in technology promise new management algorithms. PMID:26934884

Is PIGD a legitimate motor subtype in Parkinson disease?

PubMed

Kotagal, Vikas

2016-06-01

Parkinson disease is a chronic progressive syndrome with a broad array of clinical features. Different investigators have suggested the heterogeneous motor manifestations of early Parkinson disease can be conceptualized through a taxonomy of clinical subtypes including tremor-predominant and postural instability and gait difficulty-predominant subtypes. Although it is theoretically valuable to distinguish subtypes of Parkinson disease, the reality is that few patients fit these discrete categories well and many transition from exhibiting elements of one subtype to elements of another. In the time since the initial description of the postural instability and gait difficulty-predominant subtype, Parkinson disease clinical research has blossomed in many ways - including an increased emphasis on the role of medical comorbidities and extranigral pathologies in Parkinson disease as markers of prognostic significance. By conceptualizing the pathogenesis of an expansive disease process in the limited terms of categorical motor subtypes, we run the risk of overlooking or misclassifying clinically significant pathogenic risk factors that lead to the development of motor milestones such as falls and related axial motor disability. Given its critical influence on quality of life and overall prognosis, we are in need of a model of postural instability and gait difficulty-predominant features in Parkinson disease that emphasizes the overlooked pathological influence of aging and medical comorbidities on the development of axial motor burden and postural instability and gait difficulty-predominant features. This Point of View proposes thinking of postural instability and gait difficulties in Parkinson disease not as a discrete subtype, but rather as multidimensional continuum influenced by several overlapping age-related pathologies.

Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.

PubMed

Santoro, C; Giugliano, T; Melone, M A B; Cirillo, M; Schettino, C; Bernardo, P; Cirillo, G; Perrotta, S; Piluso, G

2018-01-01

Neurofibromatosis type 1 (NF1) has long been considered a well-defined, recognizable monogenic disorder, with neurofibromas constituting a pathognomonic sign. This dogma has been challenged by recent descriptions of patients with enlarged nerves or paraspinal tumors, suggesting that neurogenic tumors and hypertrophic neuropathy may be a complication of Noonan syndrome with multiple lentigines (NSML) or RASopathy phenotype. We describe a 15-year-old boy, whose mother previously received clinical diagnosis of NF1 due to presence of bilateral cervical and lumbar spinal lesions resembling plexiform neurofibromas and features suggestive of NS. NF1 molecular analysis was negative in the mother. The boy presented with Noonan features, multiple lentigines and pectus excavatum. Next-generation sequencing analysis of all RASopathy genes identified p.Ser548Arg missense mutation in SOS1 in the boy, confirmed in his mother. Brain and spinal magnetic resonance imaging scans were negative in the boy. No heart involvement or deafness was observed in proband or mother. This is the first report of a SOS1 mutation associated with hypertrophic neuropathy resembling plexiform neurofibromas, a rare complication in Noonan phenotypes with mutations in RASopathy genes. Our results highlight the overlap between RASopathies, suggesting that NF1 diagnostic criteria need rethinking. Genetic analysis of RASopathy genes should be considered when diagnosis is uncertain. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.

PubMed

Wimmer, K; Rosenbaum, T; Messiaen, L

2017-04-01

Constitutional mismatch repair (MMR) deficiency (CMMRD) is a rare childhood cancer susceptibility syndrome resulting from biallelic germline loss-of-function mutations in one of the MMR genes. Individuals with CMMRD have high risk to develop a broad spectrum of malignancies and frequently display features reminiscent of neurofibromatosis type 1 (NF1). Evaluation of the clinical findings of genetically proven CMMRD patients shows that not only multiple café-au-lait macules but also any of the diagnostic features of NF1 may be present in a CMMRD patient. This phenotypic overlap may lead to misdiagnosis of CMMRD patients as having NF1, which impedes adequate management of the patients and their families. The spectrum of CMMRD-associated childhood malignancies includes high-grade glioma, acute myeloid leukaemia or rhabdomyosarcoma, also reported as associated with NF1. Reported associations between NF1 and these malignancies are to a large extent based on studies that neither proved the presence of an NF1 germline mutation nor ruled-out CMMRD in the affected. Hence, these associations are challenged by our current knowledge of the phenotypic overlap between NF1 and CMMRD and should be re-evaluated in future studies. Recent advances in the diagnostics of CMMRD should render it possible to definitely state or refute this diagnosis in these individuals. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Clinical features and axis I comorbidity of Australian adolescent pathological Internet and video game users.

PubMed

King, Daniel L; Delfabbro, Paul H; Zwaans, Tara; Kaptsis, Dean

2013-11-01

Although there is growing international recognition of pathological technology use (PTU) in adolescence, there has been a paucity of empirical research conducted in Australia. This study was designed to assess the clinical features of pathological video gaming (PVG) and pathological Internet use (PIU) in a normative Australian adolescent population. A secondary objective was to investigate the axis I comorbidities associated with PIU and video gaming. A total of 1287 South Australian secondary school students aged 12-18 years were recruited. Participants were assessed using the PTU checklist, Revised Children's Anxiety and Depression Scale, Social Anxiety Scale for Adolescents, revised UCLA Loneliness Scale, and Teenage Inventory of Social Skills. Adolescents who met the criteria for PVG or PIU or both were compared to normal adolescents in terms of axis I comorbidity. The prevalence rates of PIU and PVG were 6.4% and 1.8%, respectively. A subgroup with co-occurring PIU and PVG was identified (3.3%). The most distinguishing clinical features of PTU were withdrawal, tolerance, lies and secrecy, and conflict. Symptoms of preoccupation, inability to self-limit, and using technology as an escape were commonly reported by adolescents without PTU, and therefore may be less useful as clinical indicators. Depression, panic disorder, and separation anxiety were most prevalent among adolescents with PIU. PTU among Australian adolescents remains an issue warranting clinical concern. These results suggest an emerging trend towards the greater uptake and use of the Internet among female adolescents, with associated PIU. Although there exists an overlap of PTU disorders, adolescents with PIU appear to be at greater risk of axis I comorbidity than adolescents with PVG alone. Further research with an emphasis on validation techniques, such as verified identification of harm, may enable an informed consensus on the definition and diagnosis of PTU.

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

Biasing spatial attention with semantic information: an event coding approach.

PubMed

Amer, Tarek; Gozli, Davood G; Pratt, Jay

2017-04-21

We investigated the influence of conceptual processing on visual attention from the standpoint of Theory of Event Coding (TEC). The theory makes two predictions: first, an important factor in determining the influence of event 1 on processing event 2 is whether features of event 1 are bound into a unified representation (i.e., selection or retrieval of event 1). Second, whether processing the two events facilitates or interferes with each other should depend on the extent to which their constituent features overlap. In two experiments, participants performed a visual-attention cueing task, in which the visual target (event 2) was preceded by a relevant or irrelevant explicit (e.g., "UP") or implicit (e.g., "HAPPY") spatial-conceptual cue (event 1). Consistent with TEC, we found relevant explicit cues (which featurally overlap to a greater extent with the target) and implicit cues (which featurally overlap to a lesser extent), respectively, facilitated and interfered with target processing at compatible locations. Irrelevant explicit and implicit cues, on the other hand, both facilitated target processing, presumably because they were less likely selected or retrieved as an integrated and unified event file. We argue that such effects, often described as "attentional cueing", are better accounted for within the event coding framework.

Morphological heterogeneity of oral salivary gland carcinomas: A clinicopathologic study of 41 cases with long term follow-up emphasizing the overlapping spectrum of adenoid cystic carcinoma and polymorphous low-grade adenocarcinoma

PubMed Central

Schwarz, Stephan; Müller, Maximilian; Ettl, Tobias; Stockmann, Philipp; Zenk, Johannes; Agaimy, Abbas

2011-01-01

We analyzed 41 oral salivary gland carcinomas from consecutive 290 salivary gland carcinoma database (14%) with emphasis on the histological spectrum and clinical outcome of adenoid cystic carcinoma (ACC) and polymorphous low-grade adenocarcinoma (PLGA). The cohort included 14 ACCs, 14 mucoepidermoid carcinomas (MECs), 8 PLGAs, 3 adenocarcinomas, not otherwise specified and 2 acinic cell carcinomas. Mean age was 48, 58 and 61 yrs for ACC, MEC and PLGA, respectively. Eight patients (19.5%) died of tumor at a mean interval of 66.5 months. ACC and PLGA showed similar mean age, gender distribution, predominant palatal localization, nodal metastasis, perineural invasion and MIB-1 index. However, ACC tended to show higher tumor stage and residual tumor (R1/R2) more frequently than PLGA, but this was statistically not significant. ACC and PLGA showed overlapping architectural patterns. However, ACCs displayed well organized basal-luminal differentiation, highlighted by CK5/CK7 immunostaining. In contrast, PLGA showed a disorganized histological and immunohistological pattern. C-Kit expression (CD117) was common in ACC, generally mirroring that of CK7 and virtually lacking in PLGA. Kaplan-Meier analysis demonstrated a similar clinical course for ACC and PLGA with 5 years survivals of 87% and 80%, respectively. Fluorescence in situ hybridization (FISH) performed on all 290 salivary carcinomas confirmed the specificity of the translocation t (11; 19) for MEC and its absence in all other carcinomas including ACC and PLGA. Our results emphasize the diversity of oral salivary gland carcinomas and the overlapping clinicopathological features of ACC and PLGA. PMID:21577319

Clinical predictors and outcome of metabolic acidosis in under-five children admitted to an urban hospital in Bangladesh with diarrhea and pneumonia.

PubMed

Chisti, Mohammod J; Ahmed, Tahmeed; Ashraf, Hasan; Faruque, A S G; Bardhan, Pradip K; Dey, Sanjoy Kumer; Huq, Sayeeda; Das, Sumon Kumar; Salam, Mohammed A

2012-01-01

Clinical features of metabolic acidosis and pneumonia frequently overlap in young diarrheal children, resulting in differentiation from each other very difficult. However, there is no published data on the predictors of metabolic acidosis in diarrheal children also having pneumonia. Our objective was to evaluate clinical predictors of metabolic acidosis in under-five diarrheal children with radiological pneumonia, and their outcome. We prospectively enrolled all under-five children (n = 164) admitted to the Special Care Ward (SCW) of the Dhaka Hospital of icddr, b between September and December 2007 with diarrhea and radiological pneumonia who also had their total serum carbon-dioxide estimated. We compared the clinical features and outcome of children with radiological pneumonia and diarrhea with (n = 98) and without metabolic acidosis (n = 66). Children with metabolic acidosis more often had higher case-fatality (16% vs. 5%, p = 0.039) compared to those without metabolic acidosis on admission. In logistic regression analysis, after adjusting for potential confounders such as age of the patient, fever on admission, and severe wasting, the independent predictors of metabolic acidosis in under-five diarrheal children having pneumonia were clinical dehydration (OR 3.57, 95% CI 1.62-7.89, p = 0.002), and low systolic blood pressure even after full rehydration (OR 1.02, 95% CI 1.01-1.04, p = 0.005). Proportions of children with cough, respiratory rate/minute, lower chest wall indrawing, nasal flaring, head nodding, grunting respiration, and cyanosis were comparable (p>0.05) among the groups. Under-five diarrheal children with radiological pneumonia having metabolic acidosis had frequent fatal outcome than those without acidosis. Clinical dehydration and persistent systolic hypotension even after adequate rehydration were independent clinical predictors of metabolic acidosis among the children. However, metabolic acidosis in young diarrheal children had no impact on the diagnostic clinical features of radiological pneumonia which underscores the importance of early initiation of appropriate antibiotics to combat morbidity and deaths in such population.

An extended micromechanics method for probing interphase properties in polymer nanocomposites [An extended micromechanics method for overlapping geometries with application to polymer nanocomposites

DOE PAGES

Liu, Zeliang; Moore, John A.; Liu, Wing Kam

2016-05-03

Inclusions comprised on filler particles and interphase regions commonly form complex morphologies in polymer nanocomposites. Addressing these morphologies as systems of overlapping simple shapes allows for the study of dilute particles, clustered particles, and interacting interphases all in one general modeling framework. To account for the material properties in these overlapping geometries, weighted-mean and additive overlapping conditions are introduced and the corresponding inclusion-wise integral equations are formulated. An extended micromechanics method based on these overlapping conditions for linear elastic and viscoelastic heterogeneous material is then developed. An important feature of the proposed approach is that the effect of both themore » geometric overlapping (clustered particles) and physical overlapping (interacting interphases) on the effective properties can be distinguished. Lastly, we apply the extended micromechanics method to a viscoelastic polymer nanocomposite with interphase regions, and estimate the properties and thickness of the interphase region based on experimental data for carbon-black filled styrene butadiene rubbers.« less

An extended micromechanics method for probing interphase properties in polymer nanocomposites [An extended micromechanics method for overlapping geometries with application to polymer nanocomposites

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

Liu, Zeliang; Moore, John A.; Liu, Wing Kam

Inclusions comprised on filler particles and interphase regions commonly form complex morphologies in polymer nanocomposites. Addressing these morphologies as systems of overlapping simple shapes allows for the study of dilute particles, clustered particles, and interacting interphases all in one general modeling framework. To account for the material properties in these overlapping geometries, weighted-mean and additive overlapping conditions are introduced and the corresponding inclusion-wise integral equations are formulated. An extended micromechanics method based on these overlapping conditions for linear elastic and viscoelastic heterogeneous material is then developed. An important feature of the proposed approach is that the effect of both themore » geometric overlapping (clustered particles) and physical overlapping (interacting interphases) on the effective properties can be distinguished. Lastly, we apply the extended micromechanics method to a viscoelastic polymer nanocomposite with interphase regions, and estimate the properties and thickness of the interphase region based on experimental data for carbon-black filled styrene butadiene rubbers.« less

Dissociative identity disorder and schizophrenia: differential diagnosis and theoretical issues.

PubMed

Foote, Brad; Park, Jane

2008-06-01

Schizophrenia and dissociative identity disorder (DID) are typically thought of as unrelated syndromes--a genetically based psychotic disorder versus a trauma-based dissociative disorder--and are categorized as such by the DSM-IV. However, substantial data exist to document the elevated occurrence of psychotic symptoms in DID; awareness of these features is necessary to prevent diagnostic confusion. Recent research has also pointed out that schizophrenia and DID overlap not only in psychotic symptoms but also in terms of traumatic antecedents, leading to a number of suggestions for revision of our clinical, theoretical, and nosologic understanding of the relationship between these two disorders.

Trigeminal autonomic cephalgias

PubMed Central

2012-01-01

Summary points 1. Trigeminal autonomic cephalgias (TACs) are headaches/facial pains classified together based on:a suspected common pathophysiology involving the trigeminovascular system, the trigeminoparasympathetic reflex and centres controlling circadian rhythms;a similar clinical presentation of trigeminal pain, and autonomic activation. 2. There is much overlap in the diagnostic features of individual TACs. 3. In contrast, treatment response is relatively specific and aids in establishing a definitive diagnosis. 4. TACs are often presentations of underlying pathology; all patients should be imaged. 5. The aim of the article is to provide the reader with a broad introduction to, and an overview of, TACs. The reading list is extensive for the interested reader. PMID:26516482

Angular distribution, kinetic energy distributions, and excitation functions of fast metastable oxygen fragments following electron impact of CO2

NASA Technical Reports Server (NTRS)

Misakian, M.; Mumma, M. J.; Faris, J. F.

1975-01-01

Dissociative excitation of CO2 by electron impact was studied using the methods of translational spectroscopy and angular distribution analysis. Earlier time of flight studies revealed two overlapping spectra, the slower of which was attributed to metastable CO(a3 pi) fragments. The fast peak is the focus of this study. Threshold energy, angular distribution, and improve time of flight measurements indicate that the fast peak actually consists of five overlapping features. The slowest of the five features is found to consist of metastable 0(5S) produced by predissociation of a sigma u + state of CO2 into 0(5S) + CO(a3 pi). Oxygen Rydberg fragments originating directly from a different sigma u + state are believed to make up the next fastest feature. Mechanisms for producing the three remaining features are discussed.

A Review of Body Dysmorphic Disorder and Its Presentation in Different Clinical Settings

PubMed Central

Mufaddel, Amir; Osman, Ossama T.; Almugaddam, Fadwa

2013-01-01

Objective: Body dysmorphic disorder (BDD) is a relatively common psychiatric disorder characterized by preoccupations with perceived defects in physical appearance. This review aimed to explore epidemiology, clinical features, comorbidities, and treatment options for BDD in different clinical settings. Data Source and Study Selection: A search of the literature from 1970 to 2011 was performed using the MEDLINE search engine. English-language articles, with no restriction regarding the type of articles, were identified using the search terms body dysmorphic disorder, body dysmorphic disorder clinical settings, body dysmorphic disorder treatment, and body dysmorphic disorder & psychodermatology. Results: BDD occurs in 0.7% to 2.4% of community samples and 13% of psychiatric inpatients. Etiology is multifactorial, with recent findings indicating deficits in visual information processing. There is considerable overlap between BDD and obsessive-compulsive disorder (OCD) in symptom etiology and response to treatment, which has led to suggestions that BDD can be classified with anxiety disorders and OCD. A recent finding indicated genetic overlap between BDD and OCD. Over 60% of patients with BDD had a lifetime anxiety disorder, and 38% had social phobia, which tends to predate the onset of BDD. Studies reported a high level of comorbidity with depression and social phobia occurring in > 70% of patients with BDD. Individuals with BDD present frequently to dermatologists (about 9%–14% of dermatologic patients have BDD). BDD co-occurs with pathological skin picking in 26%–45% of cases. BDD currently has 2 variants: delusional and nondelusional, and both variants respond similarly to serotonin reuptake inhibitors (SRIs), which may have effect on obsessive thoughts and rituals. Cognitive-behavioral therapy has the best established treatment results. Conclusions: A considerable overlap exists between BDD and other psychiatric disorders such as OCD, anxiety, and delusional disorder, and this comorbidity should be considered in evaluation, management, and long-term follow-up of the disorder. Individuals with BDD usually consult dermatologists and cosmetic surgeons rather than psychiatrists. Collaboration between different specialties (such as primary care, dermatology, cosmetic surgery, and psychiatry) is required for better treatment outcome. PMID:24392251

Electroclinical overlap of two types of epileptic encephalopathy occurring in the same children in a certain age period?

PubMed

Caraballo, Roberto Horacio; Soraru, Alejandra; Cersósimo, Ricardo Oscar

2012-08-01

In this study, we describe three patients who each had an electroclinical overlap of two different epileptic encephalopathies (EE), with onset in a certain age period. Patient 1 had electroclinical features compatible with continuous spikes and waves during slow sleep (CSWSS) syndrome that changed into Lennox-Gastaut syndrome (LGS) (symptomatic, cause porencephalic cyst) at the age of 8.5 years. Patient 2 had LGS which evolved into CSWSS at the age of 6 years (symptomatic, cause polymicrogyria). The third patient had cryptogenic CSWSS syndrome at age the age of 7 years which evolved into LGS at the age of 7.5 years. All three patients could be considered to have two EE: CSWSS syndrome and LGS or to have had overlapping features of these epileptic syndromes. Copyright © 2012 Elsevier B.V. All rights reserved.

Seamless image stitching by homography refinement and structure deformation using optimal seam pair detection

NASA Astrophysics Data System (ADS)

Lee, Daeho; Lee, Seohyung

2017-11-01

We propose an image stitching method that can remove ghost effects and realign the structure misalignments that occur in common image stitching methods. To reduce the artifacts caused by different parallaxes, an optimal seam pair is selected by comparing the cross correlations from multiple seams detected by variable cost weights. Along the optimal seam pair, a histogram of oriented gradients is calculated, and feature points for matching are detected. The homography is refined using the matching points, and the remaining misalignment is eliminated using the propagation of deformation vectors calculated from matching points. In multiband blending, the overlapping regions are determined from a distance between the matching points to remove overlapping artifacts. The experimental results show that the proposed method more robustly eliminates misalignments and overlapping artifacts than the existing method that uses single seam detection and gradient features.

Shared neural processes support semantic control and action understanding

PubMed Central

Davey, James; Rueschemeyer, Shirley-Ann; Costigan, Alison; Murphy, Nik; Krieger-Redwood, Katya; Hallam, Glyn; Jefferies, Elizabeth

2015-01-01

Executive–semantic control and action understanding appear to recruit overlapping brain regions but existing evidence from neuroimaging meta-analyses and neuropsychology lacks spatial precision; we therefore manipulated difficulty and feature type (visual vs. action) in a single fMRI study. Harder judgements recruited an executive–semantic network encompassing medial and inferior frontal regions (including LIFG) and posterior temporal cortex (including pMTG). These regions partially overlapped with brain areas involved in action but not visual judgements. In LIFG, the peak responses to action and difficulty were spatially identical across participants, while these responses were overlapping yet spatially distinct in posterior temporal cortex. We propose that the co-activation of LIFG and pMTG allows the flexible retrieval of semantic information, appropriate to the current context; this might be necessary both for semantic control and understanding actions. Feature selection in difficult trials also recruited ventral occipital–temporal areas, not implicated in action understanding. PMID:25658631

Intestinal tuberculosis masquerading as difficult to treat Crohn disease: a case report.

PubMed

Niriella, Madunil A; Kodisinghe, S Kuleesha; De Silva, Arjuna P; Hewavisenthi, Janaki; de Silva, Hithanadura J

2016-08-24

Crohn disease has low prevalence in Sri Lanka while compared to the West, while intestinal tuberculosis is common in the region. Since clinical, endoscopic and investigation features of Crohn disease overlap with intestinal tuberculosis, differentiating these two conditions becomes a dilemma for the clinician in the intestinal tuberculosis endemic setting. An 18-year old Sri Lankan Muslim female presented with chronic abdominal pain and weight loss. Colonoscopy revealed an ulcerated ileocaecal valve and a terminal ileal stricture. Biopsy confirmed Crohn disease with no supportive features to suggest intestinal tuberculosis. Despite treatment with adequate immunosuppression she failed to improve and underwent a limited right hemicolectomy and terminal ileal resection. Histology confirmed intestinal tuberculosis and she made full recover with 6 months of anti-tuberculosis treatment. This case illustrates the importance of reviewing the diagnosis to include intestinal tuberculosis in an endemic setting, when already diagnosed Crohn disease is treatment refractory.

A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability.

PubMed

Yuan, Haiming; Meng, Zhe; Zhang, Lina; Luo, Xiangyang; Liu, Liping; Chen, Mengfan; Li, Xinwei; Zhao, Weiwei; Liang, Liyang

2016-01-01

Interstitial duplications distal to 15q13 are very rare. Here, we reported a 14-year-old boy with severe short stature, delayed bone age, hypogonadism, global developmental delay and intellectual disability. His had distinctive facial features including macrocephaly, broad forehead, deep-set and widely spaced eyes, broad nose bridge, shallow philtrum and thick lips. A de novo 6.4 Mb interstitial duplication of 15q15.3q21.2 was detected by chromosomal microarray analysis. We compared our patient's clinical phenotypes with those of several individuals with overlapping duplications and several candidate genes responsible for the phenotypes were identified as well. The results suggest a novel contiguous gene duplication syndrome characterized with shared features including short stature, hypogonadism, global developmental delay and other congenital anomalies.

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.

Chronic complex dissociative disorders and borderline personality disorder: disorders of emotion dysregulation?

PubMed

Brand, Bethany L; Lanius, Ruth A

2014-01-01

Emotion dysregulation is a core feature of chronic complex dissociative disorders (DD), as it is for borderline personality disorder (BPD). Chronic complex DD include dissociative identity disorder (DID) and the most common form of dissociative disorder not otherwise specified (DDNOS, type 1), now known as Other Specified Dissociative Disorders (OSDD, type 1). BPD is a common comorbid disorder with DD, although preliminary research indicates the disorders have some distinguishing features as well as considerable overlap. This article focuses on the epidemiology, clinical presentation, psychological profile, treatment, and neurobiology of chronic complex DD with emphasis placed on the role of emotion dysregulation in each of these areas. Trauma experts conceptualize borderline symptoms as often being trauma based, as are chronic complex DD. We review the preliminary research that compares DD to BPD in the hopes that this will stimulate additional comparative research.

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.

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.

The clinical features of the overlap between COPD and asthma

PubMed Central

2011-01-01

Background The coexistence of COPD and asthma is widely recognized but has not been well described. This study characterizes clinical features, spirometry, and chest CT scans of smoking subjects with both COPD and asthma. Methods We performed a cross-sectional study comparing subjects with COPD and asthma to subjects with COPD alone in the COPDGene Study. Results 119 (13%) of 915 subjects with COPD reported a history of physician-diagnosed asthma. These subjects were younger (61.3 vs 64.7 years old, p = 0.0001) with lower lifetime smoking intensity (43.7 vs 55.1 pack years, p = 0.0001). More African-Americans reported a history of asthma (33.6% vs 15.6%, p < 0.0001). Subjects with COPD and asthma demonstrated worse disease-related quality of life, were more likely to have had a severe COPD exacerbation in the past year, and were more likely to experience frequent exacerbations (OR 3.55 [2.19, 5.75], p < 0.0001). Subjects with COPD and asthma demonstrated greater gas-trapping on chest CT. There were no differences in spirometry or CT measurements of emphysema or airway wall thickness. Conclusion Subjects with COPD and asthma represent a relevant clinical population, with worse health-related quality of life. They experience more frequent and severe respiratory exacerbations despite younger age and reduced lifetime smoking history. Trial registration ClinicalTrials.gov: NCT00608764 PMID:21951550

A method for fast automated microscope image stitching.

PubMed

Yang, Fan; Deng, Zhen-Sheng; Fan, Qiu-Hong

2013-05-01

Image stitching is an important technology to produce a panorama or larger image by combining several images with overlapped areas. In many biomedical researches, image stitching is highly desirable to acquire a panoramic image which represents large areas of certain structures or whole sections, while retaining microscopic resolution. In this study, we develop a fast normal light microscope image stitching algorithm based on feature extraction. At first, an algorithm of scale-space reconstruction of speeded-up robust features (SURF) was proposed to extract features from the images to be stitched with a short time and higher repeatability. Then, the histogram equalization (HE) method was employed to preprocess the images to enhance their contrast for extracting more features. Thirdly, the rough overlapping zones of the images preprocessed were calculated by phase correlation, and the improved SURF was used to extract the image features in the rough overlapping areas. Fourthly, the features were corresponded by matching algorithm and the transformation parameters were estimated, then the images were blended seamlessly. Finally, this procedure was applied to stitch normal light microscope images to verify its validity. Our experimental results demonstrate that the improved SURF algorithm is very robust to viewpoint, illumination, blur, rotation and zoom of the images and our method is able to stitch microscope images automatically with high precision and high speed. Also, the method proposed in this paper is applicable to registration and stitching of common images as well as stitching the microscope images in the field of virtual microscope for the purpose of observing, exchanging, saving, and establishing a database of microscope images. Copyright © 2013 Elsevier Ltd. All rights reserved.

New developments in Silver–Russell syndrome and implications for clinical practice

PubMed Central

Ishida, Miho

2016-01-01

Silver–Russell syndrome is a clinically and genetically heterogeneous disorder, characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. It is one of the imprinting disorders, which results as a consequence of aberrant imprinted gene expressions. Currently, maternal uniparental disomy of chromosome 7 accounts for approximately 10% of Silver–Russell syndrome cases, while ˜50% of patients have hypomethylation at imprinting control region 1 at chromosome 11p15.5 locus, leaving ˜40% of cases with unknown etiologies. This review aims to provide a comprehensive list of molecular defects in Silver–Russell syndrome reported to date and to highlight the importance of multiple-loci/tissue testing and trio (both parents and proband) screening. The epigenetic and phenotypic overlaps with other imprinting disorders will also be discussed. PMID:27066913

Classification and clinical behavior of blastic plasmacytoid dendritic cell neoplasms according to their maturation-associated immunophenotypic profile

PubMed Central

Martín-Martín, Lourdes; López, Antonio; Vidriales, Belén; Caballero, María Dolores; Rodrigues, António Silva; Ferreira, Silvia Inês; Lima, Margarida; Almeida, Sérgio; Valverde, Berta; Martínez, Pilar; Ferrer, Ana; Candeias, Jorge; Ruíz-Cabello, Francisco; Buadesa, Josefa Marco; Sempere, Amparo; Villamor, Neus

2015-01-01

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare subtype of leukemia/lymphoma, whose diagnosis can be difficult to achieve due to its clinical and biological heterogeneity, as well as its overlapping features with other hematologic malignancies. In this study we investigated whether the association between the maturational stage of tumor cells and the clinico-biological and prognostic features of the disease, based on the analysis of 46 BPDCN cases classified into three maturation-associated subgroups on immunophenotypic grounds. Our results show that blasts from cases with an immature plasmacytoid dendritic cell (pDC) phenotype exhibit an uncommon CD56− phenotype, coexisting with CD34+ non-pDC tumor cells, typically in the absence of extramedullary (e.g. skin) disease at presentation. Conversely, patients with a more mature blast cell phenotype more frequently displayed skin/extramedullary involvement and spread into secondary lymphoid tissues. Despite the dismal outcome, acute lymphoblastic leukemia-type therapy (with central nervous system prophylaxis) and/or allogeneic stem cell transplantation appeared to be the only effective therapies. Overall, our findings indicate that the maturational profile of pDC blasts in BPDCN is highly heterogeneous and translates into a wide clinical spectrum -from acute leukemia to mature lymphoma-like behavior-, which may also lead to variable diagnosis and treatment. PMID:26056082

XERODERMA PIGMENTOSUM, TRICHOTHIODYSTROPHY AND COCKAYNE SYNDROME: A COMPLEX GENOTYPE-PHENOTYPE RELATIONSHIP

PubMed Central

Kraemer, Kenneth H.; Patronas, Nicholas J.; Schiffmann, Raphael; Brooks, Brian P.; Tamura, Deborah; DiGiovanna, John J.

2008-01-01

Patients with the rare genetic disorders, xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS) have defects in DNA nucleotide excision repair (NER). The NER pathway involves at least 28 genes. Three NER genes are also part of the basal transcription factor, TFIIH. Mutations in 11 NER genes have been associated with clinical diseases with at least 8 overlapping phenotypes. The clinical features of these patients have some similarities and but also have marked differences. NER is involved in protection against sunlight induced DNA damage. While XP patients have 1000-fold increase in susceptibility to skin cancer, TTD and CS patients have normal skin cancer risk. Several of the genes involved in NER also affect somatic growth and development. Some patients have short stature and immature sexual development. TTD patients have sulfur deficient brittle hair. Progressive sensorineural deafness is an early feature of XP and CS. Many of these clinical diseases are associated with developmental delay and progressive neurological degeneration. The main neuropathology of XP is a primary neuronal degeneration. In contrast, CS and TTD patients have reduced myelination of the brain. These complex neurological abnormalities are not related to sunlight exposure but may be caused by developmental defects as well as faulty repair of DNA damage to neuronal cells induced by oxidative metabolism or other endogenous processes. PMID:17276014

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.

PubMed

Carvalho, Claudia M B; Vasanth, Shivakumar; Shinawi, Marwan; Russell, Chad; Ramocki, Melissa B; Brown, Chester W; Graakjaer, Jesper; Skytte, Anne-Bine; Vianna-Morgante, Angela M; Krepischi, Ana C V; Patel, Gayle S; Immken, LaDonna; Aleck, Kyrieckos; Lim, Cynthia; Cheung, Sau Wai; Rosenberg, Carla; Katsanis, Nicholas; Lupski, James R

2014-11-06

The 17p13.1 microdeletion syndrome is a recently described genomic disorder with a core clinical phenotype of intellectual disability, poor to absent speech, dysmorphic features, and a constellation of more variable clinical features, most prominently microcephaly. We identified five subjects with copy-number variants (CNVs) on 17p13.1 for whom we performed detailed clinical and molecular studies. Breakpoint mapping and retrospective analysis of published cases refined the smallest region of overlap (SRO) for microcephaly to a genomic interval containing nine genes. Dissection of this phenotype in zebrafish embryos revealed a complex genetic architecture: dosage perturbation of four genes (ASGR1, ACADVL, DVL2, and GABARAP) impeded neurodevelopment and decreased dosage of the same loci caused a reduced mitotic index in vitro. Moreover, epistatic analyses in vivo showed that dosage perturbations of discrete gene pairings induce microcephaly. Taken together, these studies support a model in which concomitant dosage perturbation of multiple genes within the CNV drive the microcephaly and possibly other neurodevelopmental phenotypes associated with rearrangements in the 17p13.1 SRO. Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

High prevalence of Pneumocystis jirovecii pneumonia among Mozambican children <5 years of age admitted to hospital with clinical severe pneumonia.

PubMed

Lanaspa, M; O'Callaghan-Gordo, C; Machevo, S; Madrid, L; Nhampossa, T; Acácio, S; de la Horra, C; Friaza, V; Campano, E; Alonso, P L; Calderón, E J; Roca, A; Bassat, Q

2015-11-01

We aimed to describe Pneumocystis jirovecii pneumonia (PCP) prevalence and features in children from sub-Saharan Africa and to investigate PCP-associated risk factors. During 2006-2007 we used molecular methods to test children younger than 5 years old admitted with severe pneumonia to a hospital in southern Mozambique for Pneumocystis infection. We recruited 834 children. PCP prevalence was 6.8% and HIV prevalence was 25.7%. The in-hospital and delayed mortality were significantly higher among children with PCP (20.8% vs. 10.2%, p 0.021, and 11.5% vs. 3.6%, p 0.044, respectively). Clinical features were mostly overlapping between the two groups. Independent risk factors for PCP were age less than a year (odds ratio (OR) 6.34, 95% confidence interval (CI) 1.86-21.65), HIV infection (OR 2.99, 95% CI 1.16-7.70), grunting (OR 2.64, 95% CI 1.04-6.73) and digital clubbing (OR 10.75, 95% CI 1.21-95.56). PCP is a common and life-threatening cause of severe pneumonia in Mozambican children. Mother-to-child HIV transmission prevention should be strengthened. Better diagnostic tools are needed. Copyright © 2015 European Society of Clinical Microbiology and Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

Genetic syndromes associated with overgrowth in childhood

PubMed Central

2013-01-01

Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians' ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic overgrowth syndromes: Sotos syndrome and Beckwith-Wiedemann syndrome. Historically, the diagnosis was based entirely on clinical findings. However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. Interestingly, the 11p15 imprinting region is also associated with Russell-Silver syndrome which is a typical growth retardation syndrome. Opposite epigenetic alterations in 11p15 result in opposite clinical features shown in Beckwith-Wiedemann syndrome and Russell-Silver syndrome. Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future. PMID:24904861

Influences of dehydration on clinical features of radiological pneumonia in children attending an urban diarrhoea treatment centre in Bangladesh.

PubMed

Chisti, M J; Salam, M A; Bardhan, P K; Ahad, R; La Vincente, S; Duke, T

2010-01-01

As the signs of dehydration often overlap with those of pneumonia, it may be difficult for health workers in resource-poor settings to make a clinical diagnosis of pneumonia in children with dehydration. This issue has received very little attention. To compare the clinical features of pneumonia in children with and without dehydration caused by diarrhoea. All children aged 2-59 months with diarrhoea and radiologically confirmed pneumonia admitted to the Special Care Ward (SCW) of Dhaka Hospital, ICDDR,B between September and December 2007 were enrolled for the study. Children with dehydration (67 cases) and those without (101 controls) were compared. Cases presented less frequently with fast breathing (60% vs 88%, p<0.001) and lower chest-wall indrawing (67% vs 82%, p=0.035) than did controls. In logistic regression analysis, cases more often had severe malnutrition (OR 2.31, CI 1.06-5.02, p=0.035) and cyanosis (OR 19.05, CI 1.94-186.68, p=0.011) and were abnormally sleepy (OR 372, CI 1.71-8.08, p=0.001). Fast breathing and lower chest-wall indrawing may be less reliable for the diagnosis of pneumonia in children with dehydration, especially when there is severe malnutrition.

Full-Text Searching on Major Supermarket Systems: Dialog, Data-Star, and Nexis.

ERIC Educational Resources Information Center

Tenopir, Carol; Berglund, Sharon

1993-01-01

Examines the similarities, differences, and full-text features of the three most-used online systems for full-text searching in general libraries: DIALOG, Data-Star, and NEXIS. Overlapping databases, unique sources, search features, proximity operators, set building, language enhancement and word equivalencies, and display features are discussed.…

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

PubMed

Tatton-Brown, Katrina; Murray, Anne; Hanks, Sandra; Douglas, Jenny; Armstrong, Ruth; Banka, Siddharth; Bird, Lynne M; Clericuzio, Carol L; Cormier-Daire, Valerie; Cushing, Tom; Flinter, Frances; Jacquemont, Marie-Line; Joss, Shelagh; Kinning, Esther; Lynch, Sally Ann; Magee, Alex; McConnell, Vivienne; Medeira, Ana; Ozono, Keiichi; Patton, Michael; Rankin, Julia; Shears, Debbie; Simon, Marleen; Splitt, Miranda; Strenger, Volker; Stuurman, Kyra; Taylor, Clare; Titheradge, Hannah; Van Maldergem, Lionel; Temple, I Karen; Cole, Trevor; Seal, Sheila; Rahman, Nazneen

2013-12-01

Weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome. To date, we have identified 48 individuals with EZH2 mutations. The mutations were primarily missense mutations occurring throughout the gene, with some clustering in the SET domain (12/48). Truncating mutations were uncommon (4/48) and only identified in the final exon, after the SET domain. Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals. However, tall stature is very common, reported in >90% of affected individuals. Intellectual disability is also common, present in ~80%, but is highly variable and frequently mild. Additional clinical features which may help in stratifying individuals to EZH2 mutation testing include camptodactyly, soft, doughy skin, umbilical hernia, and a low, hoarse cry. Considerable phenotypic overlap between Sotos and Weaver syndromes is also evident. The identification of an EZH2 mutation can therefore provide an objective means of confirming a subtle presentation of Weaver syndrome and/or distinguishing Weaver and Sotos syndromes. As mutation testing becomes increasingly accessible and larger numbers of EZH2 mutation-positive individuals are identified, knowledge of the clinical spectrum and prognostic implications of EZH2 mutations should improve. © 2013 Wiley Periodicals, Inc.

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

PubMed Central

Giunta, Cecilia; Baumann, Matthias; Fauth, Christine; Lindert, Uschi; Abdalla, Ebtesam M; Brady, Angela F; Collins, James; Dastgir, Jahannaz; Donkervoort, Sandra; Ghali, Neeti; Johnson, Diana S; Kariminejad, Ariana; Koch, Johannes; Kraenzlin, Marius; Lahiri, Nayana; Lozic, Bernarda; Manzur, Adnan Y; Morton, Jenny E V; Pilch, Jacek; Pollitt, Rebecca C; Schreiber, Gudrun; Shannon, Nora L; Sobey, Glenda; Vandersteen, Anthony; van Dijk, Fleur S; Witsch-Baumgartner, Martina; Zschocke, Johannes; Pope, F Michael; Bönnemann, Carsten G; Rohrbach, Marianne

2018-01-01

Purpose In 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers–Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis–trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens. Only nine affected individuals have been reported to date. Methods We report on a cohort of 17 individuals with FKBP14-kEDS and the follow-up of three previously reported patients, and provide an extensive overview of the disorder and its natural history based on clinical, biochemical, and molecular genetics data. Results Based on the frequency of the clinical features of 23 patients from the present and previous cohorts, we define major and minor features of FKBP14-kEDS. We show that myopathy is confirmed by histology and muscle imaging only in some patients, and that hearing impairment is predominantly sensorineural and may not be present in all individuals. Conclusion Our data further support the extensive clinical overlap with PLOD1-kEDS and show that vascular complications are rare manifestations of FKBP14-kEDS. PMID:28617417

Chikungunya viral arthritis in the United States: a mimic of seronegative rheumatoid arthritis.

PubMed

Miner, Jonathan J; Aw-Yeang, Han-Xian; Fox, Julie M; Taffner, Samantha; Malkova, Olga N; Oh, Stephen T; Kim, Alfred H J; Diamond, Michael S; Lenschow, Deborah J; Yokoyama, Wayne M

2015-05-01

Chikungunya virus (CHIKV) is an arthritogenic mosquito-transmitted alphavirus that spread to the Caribbean in 2013 and to the US in 2014. CHIKV-infected patients develop inflammatory arthritis that can persist for months or years, but little is known about the rheumatologic and immunologic features of CHIKV-related arthritis in humans, particularly as compared to rheumatoid arthritis (RA). The purpose of this study was to describe these features in a group of 10 American travelers who were nearly simultaneously infected while visiting Haiti in June 2014. Patient history was obtained and physical examination and laboratory tests were performed. All patients with CHIKV-related arthritis had detectable levels of anti-CHIKV IgG. Using cytometry by time-of-flight (CyTOF), we analyzed peripheral blood mononuclear cells in CHIKV-infected patients, healthy controls, and patients with untreated, active RA. Among 10 CHIKV-infected individuals, 8 developed persistent symmetric polyarthritis that met the American College of Rheumatology/European League Against Rheumatism 2010 criteria for (seronegative) RA. CyTOF analysis revealed that RA and CHIKV-infected patients had greater percentages of activated and effector CD4+ and CD8+ T cells than healthy controls. In addition to similar clinical features, patients with CHIKV infection and patients with RA develop very similar peripheral T cell phenotypes. These overlapping clinical and immunologic features highlight a need for rheumatologists to consider CHIKV infection when evaluating patients with new, symmetric polyarthritis. © 2015, American College of Rheumatology.

Automatic classification of patients with idiopathic Parkinson's disease and progressive supranuclear palsy using diffusion MRI datasets

NASA Astrophysics Data System (ADS)

Talai, Sahand; Boelmans, Kai; Sedlacik, Jan; Forkert, Nils D.

2017-03-01

Parkinsonian syndromes encompass a spectrum of neurodegenerative diseases, which can be classified into various subtypes. The differentiation of these subtypes is typically conducted based on clinical criteria. Due to the overlap of intra-syndrome symptoms, the accurate differential diagnosis based on clinical guidelines remains a challenge with failure rates up to 25%. The aim of this study is to present an image-based classification method of patients with Parkinson's disease (PD) and patients with progressive supranuclear palsy (PSP), an atypical variant of PD. Therefore, apparent diffusion coefficient (ADC) parameter maps were calculated based on diffusion-tensor magnetic resonance imaging (MRI) datasets. Mean ADC values were determined in 82 brain regions using an atlas-based approach. The extracted mean ADC values for each patient were then used as features for classification using a linear kernel support vector machine classifier. To increase the classification accuracy, a feature selection was performed, which resulted in the top 17 attributes to be used as the final input features. A leave-one-out cross validation based on 56 PD and 21 PSP subjects revealed that the proposed method is capable of differentiating PD and PSP patients with an accuracy of 94.8%. In conclusion, the classification of PD and PSP patients based on ADC features obtained from diffusion MRI datasets is a promising new approach for the differentiation of Parkinsonian syndromes in the broader context of decision support systems.

Automatic detection of diabetic retinopathy features in ultra-wide field retinal images

NASA Astrophysics Data System (ADS)

Levenkova, Anastasia; Sowmya, Arcot; Kalloniatis, Michael; Ly, Angelica; Ho, Arthur

2017-03-01

Diabetic retinopathy (DR) is a major cause of irreversible vision loss. DR screening relies on retinal clinical signs (features). Opportunities for computer-aided DR feature detection have emerged with the development of Ultra-WideField (UWF) digital scanning laser technology. UWF imaging covers 82% greater retinal area (200°), against 45° in conventional cameras3 , allowing more clinically relevant retinopathy to be detected4 . UWF images also provide a high resolution of 3078 x 2702 pixels. Currently DR screening uses 7 overlapping conventional fundus images, and the UWF images provide similar results1,4. However, in 40% of cases, more retinopathy was found outside the 7-field ETDRS) fields by UWF and in 10% of cases, retinopathy was reclassified as more severe4 . This is because UWF imaging allows examination of both the central retina and more peripheral regions, with the latter implicated in DR6 . We have developed an algorithm for automatic recognition of DR features, including bright (cotton wool spots and exudates) and dark lesions (microaneurysms and blot, dot and flame haemorrhages) in UWF images. The algorithm extracts features from grayscale (green "red-free" laser light) and colour-composite UWF images, including intensity, Histogram-of-Gradient and Local binary patterns. Pixel-based classification is performed with three different classifiers. The main contribution is the automatic detection of DR features in the peripheral retina. The method is evaluated by leave-one-out cross-validation on 25 UWF retinal images with 167 bright lesions, and 61 other images with 1089 dark lesions. The SVM classifier performs best with AUC of 94.4% / 95.31% for bright / dark lesions.

Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.

PubMed

Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; Della Mina, Erika; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A; van Essen, Antoni J; Messa, Jole; Rizzuti, Tommaso; Bianchi, Paolo; Dorsman, Josephine; de Winter, Johan P; Lalatta, Faustina; Zuffardi, Orsetta

2015-05-01

The diagnosis of VACTERL syndrome can be elusive, especially in the prenatal life, due to the presence of malformations that overlap those present in other genetic conditions, including the Fanconi anemia (FA). We report on three VACTERL cases within two families, where the two who arrived to be born died shortly after birth due to severe organs' malformations. The suspicion of VACTERL association was based on prenatal ultrasound assessment and postnatal features. Subsequent chromosome breakage analysis suggested the diagnosis of FA. Finally, by next-generation sequencing based on the analysis of the exome in one family and of a panel of Fanconi genes in the second one, we identified novel FANCL truncating mutations in both families. We used ectopic expression of wild-type FANCL to functionally correct the cellular FA phenotype for both mutations. Our study emphasizes that the diagnosis of FA should be considered when VACTERL association is suspected. Furthermore, we show that loss-of-function mutations in FANCL result in a severe clinical phenotype characterized by early postnatal death. © 2015 WILEY PERIODICALS, INC.

Frequency of heterozygous TET2 deletions in myeloproliferative neoplasms

PubMed Central

Tripodi, Joseph; Hoffman, Ronald; Najfeld, Vesna; Weinberg, Rona

2010-01-01

The Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms (MPNs), including polycythemia vera, essential thrombocythemia, and primary myelofibrosis, are a group of clonal hematopoietic stem cell disorders with overlapping clinical and cytogenetic features and a variable tendency to evolve into acute leukemia. These diseases not only share overlapping chromosomal abnormalities but also a number of acquired somatic mutations. Recently, mutations in a putative tumor suppressor gene, ten-eleven translocation 2 (TET2) on chromosome 4q24 have been identified in 12% of patients with MPN. Additionally 4q24 chromosomal rearrangements in MPN, including TET2 deletions, have also been observed using conventional cytogenetics. The goal of this study was to investigate the frequency of genomic TET2 rearrangements in MPN using fluorescence in situ hybridization as a more sensitive method for screening and identifying genomic deletions. Among 146 MPN patients, we identified two patients (1.4%) who showed a common 4q24 deletion, including TET2. Our observations also indicated that the frequency of TET2 deletion is increased in patients with an abnormal karyotype (5%). PMID:21188113

Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.

PubMed

Allanson, Judith; Smith, Amanda; Hare, Heather; Albrecht, Beate; Bijlsma, Emilia; Dallapiccola, Bruno; Donti, Emilio; Fitzpatrick, David; Isidor, Bertrand; Lachlan, Katherine; Le Caignec, Cedric; Prontera, Paolo; Raas-Rothschild, Annick; Rogaia, Daniela; van Bon, Bregje; Aradhya, Swaroop; Crocker, Susan F; Jarinova, Olga; McGowan-Jordan, Jean; Boycott, Kym; Bulman, Dennis; Fagerberg, Christina Ringmann

2012-09-01

Nablus mask-like facial syndrome (NMLFS) has many distinctive phenotypic features, particularly tight glistening skin with reduced facial expression, blepharophimosis, telecanthus, bulky nasal tip, abnormal external ear architecture, upswept frontal hairline, and sparse eyebrows. Over the last few years, several individuals with NMLFS have been reported to have a microdeletion of 8q21.3q22.1, demonstrated by microarray analysis. The minimal overlapping region is 93.98-96.22 Mb (hg19). Here we present clinical and microarray data from five singletons and two mother-child pairs who have heterozygous deletions significantly overlapping the region associated with NMLFS. Notably, while one mother and child were said to have mild tightening of facial skin, none of these individuals exhibited reduced facial expression or the classical facial phenotype of NMLFS. These findings indicate that deletion of the 8q21.3q22.1 region is necessary but not sufficient for development of the NMLFS. We discuss possible genetic mechanisms underlying the complex pattern of inheritance for this condition. Copyright © 2012 Wiley Periodicals, Inc.

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.

PubMed

Quélin, Chloé; Loget, Philippe; Boutaud, Lucile; Elkhartoufi, Nadia; Milon, Joelle; Odent, Sylvie; Fradin, Mélanie; Demurger, Florence; Pasquier, Laurent; Thomas, Sophie; Attié-Bitach, Tania

2018-04-27

Ciliopathies comprise a group of clinically heterogeneous and overlapping disorders with a wide spectrum of phenotypes ranging from prenatal lethality to adult-onset disorders. Pathogenic variants in more than 100 ciliary protein-encoding genes have been described, most notably those involved in intraflagellar transport (IFT) which comprises two protein complexes, responsible for retrograde (IFT-A) and anterograde transport (IFT-B). Here we describe a fetus with an unclassified severe ciliopathy phenotype including short ribs, polydactyly, bilateral renal agenesis, and imperforate anus, with compound heterozygosity for c.118_125del, p.(Thr40Glyfs*11) and a c.352 +1G > T in IFT27, which encodes a small GTPase component of the IFT-B complex. We conclude that bilateral renal agenesis is a rare feature of this severe ciliopathy and this report highlights the phenotypic overlap of Pallister-Hall syndrome and ciliopathies. The phenotype in patients with IFT27 gene variants is wide ranging from Bardet-Biedl syndrome to a lethal phenotype. © 2018 Wiley Periodicals, Inc.

Chromosome Rearrangements in Cornelia de Lange Syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in Two Half Sibs With Features of CdLS and Review of Reported CdLS Cases With Chromosome Rearrangements

PubMed Central

DeScipio, Cheryl; Kaur, Maninder; Yaeger, Dinah; Innis, Jeffrey W.; Spinner, Nancy B.; Jackson, Laird G.; Krantz, Ian D.

2016-01-01

Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and characteristic facial features. Recently, mutations in NIPBL have been found in ~50% of individuals with CdLS. Numerous chromosomal rearrangements have been reported in individuals with CdLS. These rearrangements may be causative of a CdLS phenotype, result in a phenocopy, or be unrelated to the observed phenotype. We describe two half siblings with a der(3)t(3;12)(p25.3;p13.3) chromosomal rearrangement, clinical features resembling CdLS, and phenotypic overlap with the del(3)(p25) phenotype. Region-specific BAC probes were used to fine-map the breakpoint region by fluorescence in situ hybridization (FISH). FISH analysis places the chromosome 3 breakpoint distal to RP11-115G3 on 3p25.3; the chromosome 12 breakpoint is distal to BAC RP11-88D16 on 12p13.3. A review of published cases of terminal 3p deletions and terminal 12p duplications indicates that the findings in these siblings are consistent with the del(3)(p25) phenotype. Given the phenotypic overlap with CdLS, we have reviewed the reported cases of chromosomal rearrangements involved in CdLS to better elucidate other potential loci that could harbor additional CdLS genes. Additionally, to identify chromosome rearrangements, genome-wide array comparative genomic hybridization (CGH) was performed on eight individuals with typical CdLS and without identifiable deletion or mutation of NIPBL. No pathologic rearrangements were identified. PMID:16075459

Operator for object recognition and scene analysis by estimation of set occupancy with noisy and incomplete data sets

NASA Astrophysics Data System (ADS)

Rees, S. J.; Jones, Bryan F.

1992-11-01

Once feature extraction has occurred in a processed image, the recognition problem becomes one of defining a set of features which maps sufficiently well onto one of the defined shape/object models to permit a claimed recognition. This process is usually handled by aggregating features until a large enough weighting is obtained to claim membership, or an adequate number of located features are matched to the reference set. A requirement has existed for an operator or measure capable of a more direct assessment of membership/occupancy between feature sets, particularly where the feature sets may be defective representations. Such feature set errors may be caused by noise, by overlapping of objects, and by partial obscuration of features. These problems occur at the point of acquisition: repairing the data would then assume a priori knowledge of the solution. The technique described in this paper offers a set theoretical measure for partial occupancy defined in terms of the set of minimum additions to permit full occupancy and the set of locations of occupancy if such additions are made. As is shown, this technique permits recognition of partial feature sets with quantifiable degrees of uncertainty. A solution to the problems of obscuration and overlapping is therefore available.

An Efficient Method to Detect Mutual Overlap of a Large Set of Unordered Images for Structure-From

NASA Astrophysics Data System (ADS)

Wang, X.; Zhan, Z. Q.; Heipke, C.

2017-05-01

Recently, low-cost 3D reconstruction based on images has become a popular focus of photogrammetry and computer vision research. Methods which can handle an arbitrary geometric setup of a large number of unordered and convergent images are of particular interest. However, determining the mutual overlap poses a considerable challenge. We propose a new method which was inspired by and improves upon methods employing random k-d forests for this task. Specifically, we first derive features from the images and then a random k-d forest is used to find the nearest neighbours in feature space. Subsequently, the degree of similarity between individual images, the image overlaps and thus images belonging to a common block are calculated as input to a structure-from-motion (sfm) pipeline. In our experiments we show the general applicability of the new method and compare it with other methods by analyzing the time efficiency. Orientations and 3D reconstructions were successfully conducted with our overlap graphs by sfm. The results show a speed-up of a factor of 80 compared to conventional pairwise matching, and of 8 and 2 compared to the VocMatch approach using 1 and 4 CPU, respectively.

Scalable Multicast Protocols for Overlapped Groups in Broker-Based Sensor Networks

NASA Astrophysics Data System (ADS)

Kim, Chayoung; Ahn, Jinho

In sensor networks, there are lots of overlapped multicast groups because of many subscribers, associated with their potentially varying specific interests, querying every event to sensors/publishers. And gossip based communication protocols are promising as one of potential solutions providing scalability in P(Publish)/ S(Subscribe) paradigm in sensor networks. Moreover, despite the importance of both guaranteeing message delivery order and supporting overlapped multicast groups in sensor or P2P networks, there exist little research works on development of gossip-based protocols to satisfy all these requirements. In this paper, we present two versions of causally ordered delivery guaranteeing protocols for overlapped multicast groups. The one is based on sensor-broker as delegates and the other is based on local views and delegates representing subscriber subgroups. In the sensor-broker based protocol, sensor-broker might lead to make overlapped multicast networks organized by subscriber's interests. The message delivery order has been guaranteed consistently and all multicast messages are delivered to overlapped subscribers using gossip based protocols by sensor-broker. Therefore, these features of the sensor-broker based protocol might be significantly scalable rather than those of the protocols by hierarchical membership list of dedicated groups like traditional committee protocols. And the subscriber-delegate based protocol is much stronger rather than fully decentralized protocols guaranteeing causally ordered delivery based on only local views because the message delivery order has been guaranteed consistently by all corresponding members of the groups including delegates. Therefore, this feature of the subscriber-delegate protocol is a hybrid approach improving the inherent scalability of multicast nature by gossip-based technique in all communications.

Somatization revisited: diagnosis and perceived causes of common mental disorders.

PubMed

Henningsen, Peter; Jakobsen, Thorsten; Schiltenwolf, Marcus; Weiss, Mitchell G

2005-02-01

The assessment of somatoform disorders is complicated by persistent theoretical and practical questions of classification and assessment. Critical rethinking of professional concepts of somatization suggests the value of complementary assessment of patients' illness explanatory models of somatoform and other common mental disorders. We undertook this prospective study to assess medically unexplained somatic symptoms and their patient-perceived causes of illness and to show how patients' explanatory models relate to professional diagnoses of common mental disorders and how they may predict the short-term course of illness. Tertiary care patients (N=186) with prominent somatoform symptoms were evaluated with the Structured Clinical Interview for DSM-IV, a locally adapted Explanatory Model Interview to elicit patients' illness experience (priority symptoms) and perceived causes, and clinical self-report questionnaires. The self-report questionnaires were administered at baseline and after 6 months. Diagnostic overlap between somatoform, depressive, and anxiety disorders occurred frequently (79.6%). Patients explained pure somatoform disorders mainly with organic causal attributions; they explained pure depressive and/or anxiety disorders mainly with psychosocial perceived causes, and patients in the diagnostic overlap group typically reported mixed causal attributions. In this last group, among patients with similar levels of symptom severity, organic perceived causes were related to a lower physical health sum score on the MOS Short Form, and psychosocial perceived causes were related to less severe depressive symptoms, assessed with the Hospital Anxiety and Depression Scale at 6 months. Among patients meeting criteria for comorbid somatoform with anxiety and/or depressive disorders, complementary assessment of patient-perceived causes, a key element of illness explanatory models, was related to levels of functional impairment and short-term prognosis. For such patients, causal attributions may be particularly useful to clarify clinically significant features of common mental disorders and thereby contribute to clinical assessment.

Reading words and other people: a comparison of exception word, familiar face and affect processing in the left and right temporal variants of primary progressive aphasia

PubMed Central

Binney, Richard J.; Henry, Maya L.; Babiak, Miranda; Pressman, Peter S.; Santos-Santos, Miguel A.; Narvid, Jared; Mandelli, Maria Luisa; Strain, Paul J.; Miller, Bruce L.; Rankin, Katherine P.; Rosen, Howard J.; Gorno-Tempini, Maria Luisa

2016-01-01

Semantic variant primary progressive aphasia (svPPA) typically presents with left-hemisphere predominant rostral temporal lobe atrophy and the most significant complaints within the language domain. Less frequently, patients present with right-hemisphere predominant temporal atrophy coupled with marked impairments in processing of famous faces and emotions. Few studies have objectively compared these patient groups in both domains and therefore it is unclear to what extent the syndromes overlap. Clinically diagnosed svPPA patients were characterized as left- (n= 21) or right-predominant (n = 12) using imaging and compared along with 14 healthy controls. Regarding language, our primary focus was upon two hallmark features of svPPA; confrontation naming and surface dyslexia. Both groups exhibited naming deficits and surface dyslexia although the impairments were more severe in the left-predominant group. Familiarity judgments on famous faces and affect processing were more profoundly impaired in the right-predominant group. Our findings suggest that the two syndromes overlap significantly but that early cases at the tail ends of the continuum constitute a challenge for current clinical criteria. Correlational neuroimaging analyses implicated a mid portion of the left lateral temporal lobe in exception word reading impairments in line with proposals that this region is an interface between phonology and semantic knowledge. PMID:27389800

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

PubMed

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

2015-05-01

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

Irritable bowel syndrome subtypes: Clinical and psychological features, body mass index and comorbidities.

PubMed

Kibune Nagasako, Cristiane; Garcia Montes, Ciro; Silva Lorena, Sônia Letícia; Mesquita, Maria Aparecida

2016-02-01

Irritable bowel syndrome (IBS) is classified into subtypes according to bowel habit. To investigate whether there are differences in clinical features, comorbidities, anxiety, depression and body mass index (BMI) among IBS subtypes. The study group included 113 consecutive patients (mean age: 48 ± 11 years; females: 94) with the diagnosis of IBS. All of them answered a structured questionnaire for demographic and clinical data and underwent upper endoscopy. Anxiety and depression were assessed by the Hospital Anxiety and Depression scale (HAD). The distribution of subtypes was: IBS-diarrhea (IBS-D), 46%; IBS-constipation (IBS-C), 32%, and mixed IBS (IBS-M), 22%. IBS overlap with gastroesophageal reflux disease (GERD), functional dyspepsia, chronic headache and fibromyalgia occurred in 65.5%, 48.7%, 40.7% and 22.1% of patients, respectively. Anxiety and/or depression were found in 81.5%. Comparisons among subgroups showed that bloating was significantly associated with IBS-M compared to IBS-D (odds ratio-OR-5.6). Straining was more likely to be reported by IBS-M (OR 15.3) and IBS-C (OR 12.0) compared to IBS-D patients, while urgency was associated with both IBS-M (OR 19.7) and IBS-D (OR 14.2) compared to IBS-C. In addition, IBS-M patients were more likely to present GERD than IBS-D (OR 6.7) and higher scores for anxiety than IBS-C patients (OR 1.2). BMI values did not differ between IBS-D and IBS-C. IBS-M is characterized by symptoms frequently reported by both IBS-C (straining) and IBS-D (urgency), higher levels of anxiety, and high prevalence of comorbidities. These features should be considered in the clinical management of this subgroup.

Non-traumatic rhabdomyolysis: Background, laboratory features, and acute clinical management.

PubMed

Cervellin, Gianfranco; Comelli, Ivan; Benatti, Mario; Sanchis-Gomar, Fabian; Bassi, Antonella; Lippi, Giuseppe

2017-08-01

Rhabdomyolysis is a relatively rare condition, but its clinical consequences are frequently dramatic in terms of both morbidity and mortality. Although no consensus has been reached so far about the precise definition of this condition, the term rhabdomyolysis describes a rapid breakdown of striated, or skeletal, muscle. It is hence characterized by the rupture and necrosis of muscle fibers, resulting in release of cell degradation products and intracellular elements within the bloodstream and extracellular space. Notably, the percentage of patients with rhabdomyolysis who develop acute kidney injury, the most dramatic consequence, varies from 13% to over 50% according to both the cause and the clinical and organizational setting where they are diagnosed. Despite direct muscle injury (i.e., traumatic rhabdomyolysis) remains the most common cause, additional causes, frequently overlapping, include hypoxic, physical, chemical or biological factors. The conventional triad of symptoms includes muscle pain, weakness and dark urine. The laboratory diagnosis is essentially based on the measurement of biomarkers of muscle injury, being creatine kinase (CK) the biochemical "gold standard" for diagnosis, and myoglobin the "gold standard" for prognostication, especially in patients with non-traumatic rhabdomyolysis. The essential clinical management in the emergency department is based on a targeted intervention to manage the underlying cause, combined with infusion of fluids and eventually sodium bicarbonate. We will present and discuss in this article the pathophysiological and clinical features of non-traumatic rhabdomyolysis, focusing specifically on Emergency Department (ED) management. Copyright © 2017 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.

PubMed

Fernández-Rebollo, Eduardo; Lecumberri, Beatriz; Gaztambide, Sonia; Martinez-Indart, Lorea; Perez de Nanclares, Guiomar; Castaño, Luis

2013-05-01

Recent advances in genetics and epigenetics have revealed an overlap between molecular and clinical features of pseudohypoparathyroidism (PHP) subtypes, broadening the previous spectrum of PHP genotype-phenotype correlations and indicating limitations of the current classification of the disease. The aim of the study was to screen patients with clinical diagnoses of PHP type I or pseudo-PHP for underlying molecular defects and explore possible correlations between molecular findings and clinical features. We investigated the GNAS locus at the molecular level in 72 affected patients (46 women and 26 men) from 56 nonrelated families. Clinical data were obtained for 63 of these patients (38 women and 25 men). The molecular analysis showed that 35 patients carried structural mutations, 32 had loss of methylation, and 2 had a 2q37 deletion but did not reveal any (epi)mutation for 3 patients. Comparing these results and the clinical data, we observed that a younger age at diagnosis was associated with structural defects at the GNAS gene and epigenetic defects with a diagnosis later in life (9.19 ± 1.64 vs 24.57 ± 2.28 years, P < .0001). This first global review of PHP in Spain highlights the importance of a detailed clinical and genetic study of each patient and the integrated analysis of the findings from the two approaches. It may also help geneticists and clinicians to raise the suspicion of PHP earlier, reach more accurate diagnoses, and provide patients with PHP and their families with useful genetic information and counseling, thereby improving outcomes and quality of life.

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

Pigmented well-differentiated hepatocellular neoplasm with beta-catenin mutation.

PubMed

Souza, Lara Neves; de Martino, Rodrigo Bronze; Thompson, Richard; Strautnieks, Sandra; Heaton, Nigel D; Quaglia, Alberto

2015-12-01

According to the most recent WHO classification of hepatocellular adenomas, a small percentage of inflammatory hepatocellular adenomas presents with mutation in the beta-catenin gene and are at higher risk of malignant transformation. It has been recognized that adenoma-like hepatocellular neoplasms with focal atypia, or in unusual clinical context present with similar cytogenetic and immunohistochemistry characteristics to well-differentiated hepatocellular carcinomas. We report a case of a well-differentiated hepatocellular neoplasm with Dubin-Johnson-like pigment displaying histological features overlapping with a beta-catenin mutated inflammatory adenoma and a well-differentiated hepatocellular carcinoma in a non-cirrhotic liver. The patient was a 48-year-old woman, who was asymptomatic, and had a clinical history of intra-uterine exposure to diethylstilbestrol, previous cancers and past oral contraceptive use. The recently proposed term "well-differentiated hepatocellular neoplasm of uncertain malignant potential" should be applied in such cases to highlight the different pathogenesis and risk of malignancy compared to the typical adenomas, and to suggest a careful and customized clinical management.

An ant colony based algorithm for overlapping community detection in complex networks

NASA Astrophysics Data System (ADS)

Zhou, Xu; Liu, Yanheng; Zhang, Jindong; Liu, Tuming; Zhang, Di

2015-06-01

Community detection is of great importance to understand the structures and functions of networks. Overlap is a significant feature of networks and overlapping community detection has attracted an increasing attention. Many algorithms have been presented to detect overlapping communities. In this paper, we present an ant colony based overlapping community detection algorithm which mainly includes ants' location initialization, ants' movement and post processing phases. An ants' location initialization strategy is designed to identify initial location of ants and initialize label list stored in each node. During the ants' movement phase, the entire ants move according to the transition probability matrix, and a new heuristic information computation approach is redefined to measure similarity between two nodes. Every node keeps a label list through the cooperation made by ants until a termination criterion is reached. A post processing phase is executed on the label list to get final overlapping community structure naturally. We illustrate the capability of our algorithm by making experiments on both synthetic networks and real world networks. The results demonstrate that our algorithm will have better performance in finding overlapping communities and overlapping nodes in synthetic datasets and real world datasets comparing with state-of-the-art algorithms.

Patient feature based dosimetric Pareto front prediction in esophageal cancer radiotherapy.

PubMed

Wang, Jiazhou; Jin, Xiance; Zhao, Kuaike; Peng, Jiayuan; Xie, Jiang; Chen, Junchao; Zhang, Zhen; Studenski, Matthew; Hu, Weigang

2015-02-01

To investigate the feasibility of the dosimetric Pareto front (PF) prediction based on patient's anatomic and dosimetric parameters for esophageal cancer patients. Eighty esophagus patients in the authors' institution were enrolled in this study. A total of 2928 intensity-modulated radiotherapy plans were obtained and used to generate PF for each patient. On average, each patient had 36.6 plans. The anatomic and dosimetric features were extracted from these plans. The mean lung dose (MLD), mean heart dose (MHD), spinal cord max dose, and PTV homogeneity index were recorded for each plan. Principal component analysis was used to extract overlap volume histogram (OVH) features between PTV and other organs at risk. The full dataset was separated into two parts; a training dataset and a validation dataset. The prediction outcomes were the MHD and MLD. The spearman's rank correlation coefficient was used to evaluate the correlation between the anatomical features and dosimetric features. The stepwise multiple regression method was used to fit the PF. The cross validation method was used to evaluate the model. With 1000 repetitions, the mean prediction error of the MHD was 469 cGy. The most correlated factor was the first principal components of the OVH between heart and PTV and the overlap between heart and PTV in Z-axis. The mean prediction error of the MLD was 284 cGy. The most correlated factors were the first principal components of the OVH between heart and PTV and the overlap between lung and PTV in Z-axis. It is feasible to use patients' anatomic and dosimetric features to generate a predicted Pareto front. Additional samples and further studies are required improve the prediction model.

TU-C-17A-10: Patient Features Based Dosimetric Pareto Front Prediction In Esophagus Cancer Radiotherapy

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

Wang, J; Zhao, K; Peng, J

2014-06-15

Purpose: The purpose of this study is to study the feasibility of the dosimetric pareto front (PF) prediction based on patient anatomic and dosimetric parameters for esophagus cancer patients. Methods: Sixty esophagus patients in our institution were enrolled in this study. A total 2920 IMRT plans were created to generated PF for each patient. On average, each patient had 48 plans. The anatomic and dosimetric features were extracted from those plans. The mean lung dose (MLD), mean heart dose (MHD), spinal cord max dose and PTV homogeneous index (PTVHI) were recorded for each plan. The principal component analysis (PCA) wasmore » used to extract overlap volume histogram (OVH) features between PTV and other critical organs. The full dataset was separated into two parts include the training dataset and the validation dataset. The prediction outcomes were the MHD and MLD for the current study. The spearman rank correlation coefficient was used to evaluate the correlation between the anatomical features and dosimetric features. The PF was fit by the the stepwise multiple regression method. The cross-validation method was used to evaluation the model. Results: The mean prediction error of the MHD was 465 cGy with 100 repetitions. The most correlated factors were the first principal components of the OVH between heart and PTV, and the overlap between heart and PTV in Z-axis. The mean prediction error of the MLD was 195 cGy. The most correlated factors were the first principal components of the OVH between lung and PTV, and the overlap between lung and PTV in Z-axis. Conclusion: It is feasible to use patients anatomic and dosimetric features to generate a predicted PF. Additional samples and further studies were required to get a better prediction model.« less

Phonological Feature Repetition Suppression in the Left Inferior Frontal Gyrus.

PubMed

Okada, Kayoko; Matchin, William; Hickok, Gregory

2018-06-07

Models of speech production posit a role for the motor system, predominantly the posterior inferior frontal gyrus, in encoding complex phonological representations for speech production, at the phonemic, syllable, and word levels [Roelofs, A. A dorsal-pathway account of aphasic language production: The WEAVER++/ARC model. Cortex, 59(Suppl. C), 33-48, 2014; Hickok, G. Computational neuroanatomy of speech production. Nature Reviews Neuroscience, 13, 135-145, 2012; Guenther, F. H. Cortical interactions underlying the production of speech sounds. Journal of Communication Disorders, 39, 350-365, 2006]. However, phonological theory posits subphonemic units of representation, namely phonological features [Chomsky, N., & Halle, M. The sound pattern of English, 1968; Jakobson, R., Fant, G., & Halle, M. Preliminaries to speech analysis. The distinctive features and their correlates. Cambridge, MA: MIT Press, 1951], that specify independent articulatory parameters of speech sounds, such as place and manner of articulation. Therefore, motor brain systems may also incorporate phonological features into speech production planning units. Here, we add support for such a role with an fMRI experiment of word sequence production using a phonemic similarity manipulation. We adapted and modified the experimental paradigm of Oppenheim and Dell [Oppenheim, G. M., & Dell, G. S. Inner speech slips exhibit lexical bias, but not the phonemic similarity effect. Cognition, 106, 528-537, 2008; Oppenheim, G. M., & Dell, G. S. Motor movement matters: The flexible abstractness of inner speech. Memory & Cognition, 38, 1147-1160, 2010]. Participants silently articulated words cued by sequential visual presentation that varied in degree of phonological feature overlap in consonant onset position: high overlap (two shared phonological features; e.g., /r/ and /l/) or low overlap (one shared phonological feature, e.g., /r/ and /b/). We found a significant repetition suppression effect in the left posterior inferior frontal gyrus, with increased activation for phonologically dissimilar words compared with similar words. These results suggest that phonemes, particularly phonological features, are part of the planning units of the motor speech system.

Deconstructing Bipolar Disorder and Schizophrenia: A cross-diagnostic cluster analysis of cognitive phenotypes.

PubMed

Lee, Junghee; Rizzo, Shemra; Altshuler, Lori; Glahn, David C; Miklowitz, David J; Sugar, Catherine A; Wynn, Jonathan K; Green, Michael F

2017-02-01

Bipolar disorder (BD) and schizophrenia (SZ) show substantial overlap. It has been suggested that a subgroup of patients might contribute to these overlapping features. This study employed a cross-diagnostic cluster analysis to identify subgroups of individuals with shared cognitive phenotypes. 143 participants (68 BD patients, 39 SZ patients and 36 healthy controls) completed a battery of EEG and performance assessments on perception, nonsocial cognition and social cognition. A K-means cluster analysis was conducted with all participants across diagnostic groups. Clinical symptoms, functional capacity, and functional outcome were assessed in patients. A two-cluster solution across 3 groups was the most stable. One cluster including 44 BD patients, 31 controls and 5 SZ patients showed better cognition (High cluster) than the other cluster with 24 BD patients, 35 SZ patients and 5 controls (Low cluster). BD patients in the High cluster performed better than BD patients in the Low cluster across cognitive domains. Within each cluster, participants with different clinical diagnoses showed different profiles across cognitive domains. All patients are in the chronic phase and out of mood episode at the time of assessment and most of the assessment were behavioral measures. This study identified two clusters with shared cognitive phenotype profiles that were not proxies for clinical diagnoses. The finding of better social cognitive performance of BD patients than SZ patients in the Lowe cluster suggest that relatively preserved social cognition may be important to identify disease process distinct to each disorder. Copyright © 2016 Elsevier B.V. All rights reserved.

A novel method for overlapping community detection using Multi-objective optimization

NASA Astrophysics Data System (ADS)

Ebrahimi, Morteza; Shahmoradi, Mohammad Reza; Heshmati, Zainabolhoda; Salehi, Mostafa

2018-09-01

The problem of community detection as one of the most important applications of network science can be addressed effectively by multi-objective optimization. In this paper, we aim to present a novel efficient method based on this approach. Also, in this study the idea of using all Pareto fronts to detect overlapping communities is introduced. The proposed method has two main advantages compared to other multi-objective optimization based approaches. The first advantage is scalability, and the second is the ability to find overlapping communities. Despite most of the works, the proposed method is able to find overlapping communities effectively. The new algorithm works by extracting appropriate communities from all the Pareto optimal solutions, instead of choosing the one optimal solution. Empirical experiments on different features of separated and overlapping communities, on both synthetic and real networks show that the proposed method performs better in comparison with other methods.

An Integrated Centroid Finding and Particle Overlap Decomposition Algorithm for Stereo Imaging Velocimetry

NASA Technical Reports Server (NTRS)

McDowell, Mark

2004-01-01

An integrated algorithm for decomposing overlapping particle images (multi-particle objects) along with determining each object s constituent particle centroid(s) has been developed using image analysis techniques. The centroid finding algorithm uses a modified eight-direction search method for finding the perimeter of any enclosed object. The centroid is calculated using the intensity-weighted center of mass of the object. The overlap decomposition algorithm further analyzes the object data and breaks it down into its constituent particle centroid(s). This is accomplished with an artificial neural network, feature based technique and provides an efficient way of decomposing overlapping particles. Combining the centroid finding and overlap decomposition routines into a single algorithm allows us to accurately predict the error associated with finding the centroid(s) of particles in our experiments. This algorithm has been tested using real, simulated, and synthetic data and the results are presented and discussed.

T cell lymphomatoid contact dermatitis: a challenging case and review of the literature.

PubMed

Knackstedt, Thomas J; Zug, Kathryn A

2015-02-01

Lymphomatoid contact dermatitis is a pseudolymphoma with clinical and histological features of allergic contact dermatitis and cutaneous T cell lymphoma. Incorrect diagnosis may lead to unnecessary testing, unnecessary treatment, or patient harm. The objective of this study is to present a case to demonstrate the diagnostic challenge and overlap between allergic contact dermatitis and cutaneous T cell lymphoma in a patient with lymphomatoid contact dermatitis caused by methylchoroisothiazolinone/methylisothiazolinone and paraben mix, and to review the existing literature in order to summarize the demographics, clinical features, allergens and treatments reported for lymphomatoid contact dermatitis. A search of major scientific databases was conducted for English-language articles reporting cases of lymphomatoid contact dermatitis or additional synonymous search headings. Nineteen articles with a total of 23 patients were analysed. Lymphomatoid contact dermatitis was more common in men, with an average age of 58.5 years. Fourteen unique allergens were identified and confirmed by patch testing. However, no single test or study was diagnostic of lymphomatoid contact dermatitis. Allergen avoidance was the most useful management tool, but selected patients required topical or systemic immunosuppression. In conclusion, without specific diagnostic features, evaluation for lymphomatoid contact dermatitis should include a thorough history and examination, patch testing, and biopsy with immunohistochemistry and clonality studies. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

The neuromuscular differential diagnosis of joint hypermobility.

PubMed

Donkervoort, S; Bonnemann, C G; Loeys, B; Jungbluth, H; Voermans, N C

2015-03-01

Joint hypermobility is the defining feature of various inherited connective tissue disorders such as Marfan syndrome and various types of Ehlers-Danlos syndrome and these will generally be the first conditions to be considered by geneticists and pediatricians in the differential diagnosis of a patient presenting with such findings. However, several congenital and adult-onset inherited myopathies also present with joint hypermobility in the context of often only mild-to-moderate muscle weakness and should, therefore, be included in the differential diagnosis of joint hypermobility. In fact, on the molecular level disorders within both groups represent different ends of the same spectrum of inherited extracellular matrix (ECM) disorders. In this review we will summarize the measures of joint hypermobility, illustrate molecular mechanisms these groups of disorders have in common, and subsequently discuss the clinical features of: 1) the most common connective tissue disorders with myopathic or other neuromuscular features: Ehlers-Danlos syndrome, Marfan syndrome and Loeys-Dietz syndrome; 2) myopathy and connective tissue overlap disorders (muscle extracellular matrix (ECM) disorders), including collagen VI related dystrophies and FKBP14 related kyphoscoliotic type of Ehlers-Danlos syndrome; and 3) various (congenital) myopathies with prominent joint hypermobility including RYR1- and SEPN1-related myopathy. The aim of this review is to assist clinical geneticists and other clinicians with recognition of these disorders. © 2015 Wiley Periodicals, Inc.

Imaging in lung transplants: Checklist for the radiologist.

PubMed

Madan, Rachna; Chansakul, Thanissara; Goldberg, Hilary J

2014-10-01

Post lung transplant complications can have overlapping clinical and imaging features, and hence, the time point at which they occur is a key distinguisher. Complications of lung transplantation may occur along a continuum in the immediate or longer postoperative period, including surgical and mechanical problems due to size mismatch and vascular as well as airway anastomotic complication, injuries from ischemia and reperfusion, acute and chronic rejection, pulmonary infections, and post-transplantation lymphoproliferative disorder. Life expectancy after lung transplantation has been limited primarily by chronic rejection and infection. Multiple detector computed tomography (MDCT) is critical for evaluation and early diagnosis of complications to enable selection of effective therapy and decrease morbidity and mortality among lung transplant recipients.

Dandy–Walker Malformation, Genitourinary Abnormalities, and Intellectual Disability in Two Families

PubMed Central

Gregor, Anne; Gleeson, Joseph G.; Rosti, Rasim Ozgur

2016-01-01

We report on two families, each with documented consanguinity and two affected with overlapping features of Dandy-Walker malformation, genitourinary abnormalities, intellectual disability, and hearing deficit. This phenotype shares similar findings with many well-known syndromes. However, the clinical findings of this syndrome categorize this as a new syndrome as compared with the phenotype of already established syndromes. Due to parental consanguinity, occurrence in siblings of both genders and the absence of manifestations in obligate carrier parents, an autosomal recessive pattern of inheritance is more likely. The authors believe that these families suggest a novel autosomal recessive cerebello–genital syndrome. Array CGH analyses of an affected did not show pathological deletions or duplications. PMID:26109232

Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.

PubMed

Rauen, Katherine A; Huson, Susan M; Burkitt-Wright, Emma; Evans, D Gareth; Farschtschi, Said; Ferner, Rosalie E; Gutmann, David H; Hanemann, C Oliver; Kerr, Bronwyn; Legius, Eric; Parada, Luis F; Patton, Michael; Peltonen, Juha; Ratner, Nancy; Riccardi, Vincent M; van der Vaart, Thijs; Vikkula, Miikka; Viskochil, David H; Zenker, Martin; Upadhyaya, Meena

2015-01-01

Neurofibromatosis type 1 (NF1) was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Their common underlying pathogenetic etiology causes significant overlap in phenotypic features which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium "Recent Developments in Neurofibromatoses (NF) and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues" chronicle this timely and topical clinical translational research symposium. The overarching goal was to bring together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras pathway syndromes to discuss the most state-of-the-art basic science and clinical issues in an effort to spark collaborations directed towards the best practices and therapies for individuals with RASopathies. © 2014 Wiley Periodicals, Inc.

Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues

PubMed Central

Rauen, Katherine A.; Huson, Susan M.; Burkitt-Wright, Emma; Evans, D Gareth; Farschtschi, Said; Ferner, Rosalie E; Gutmann, David H.; Hanemann, C Oliver; Kerr, Bronwyn; Legius, Eric; Parada, Luis F; Patton, Michael; Peltonen, Juha; Ratner, Nancy; Riccardi, Vincent M.; van der Vaart, Thijs; Vikkula, Miikka; Viskochil, David H.; Zenker, Martin; Upadhyaya, Meena

2014-01-01

Neurofibromatosis type 1 was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Their common underlying pathogenetic etiology causes significant overlap in phenotypic features which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium “Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues” chronicle this timely and topical clinical translational research symposium. The overarching goal was to bring together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras pathway syndromes to discuss the most state-of-the-art basic science and clinical issues in an effort to spark collaborations directed towards the best practices and therapies for individuals with RASopathies. PMID:25393061

Do anorectic men share personality traits with opiate dependent men? A case-control study.

PubMed

Abbate-Daga, Giovanni; Amianto, Federico; Rogna, Lorenzo; Fassino, Secondo

2007-01-01

Eating disorders (ED) and substance use disorders (SUD) display clinical and psychodynamic analogies. The co-diagnosis of a substance use disorder in male ED patients is frequent. Nevertheless, knowledge about the mutual predisposing factors or personality analogies is currently scarce and hypotheses are controversial. The Temperament and Character Inventory (TCI) was used to assess 21 anorectic men, 79 heroin-dependent men, and 75 control men matched for age and education. Anorectic and opiate-addicted patients displayed higher Harm Avoidance and lower Self-directedness and Cooperativeness. Anorectic men displayed lower Reward Dependence and higher Persistence. Opiate addicts had higher Novelty Seeking and Self-transcendence. Anorectic and heroine-dependent subjects share personality traits related to anxiety, fearfulness and antisocial features. Nevertheless, the personality profile does not completely overlap and this could influence the choice of the "substance" of abuse and the related clinical differences between anorexia and heroin dependence.

Vascular determinants of cholinergic deficits in Alzheimer disease and vascular dementia.

PubMed

Román, Gustavo C; Kalaria, Raj N

2006-12-01

Alzheimer's disease (AD) and vascular dementia (VaD) are widely accepted as the most common forms of dementia. Cerebrovascular lesions frequently coexist with AD, creating an overlap in the clinical and pathological features of VaD and AD. This review assembles evidence for a role for cholinergic mechanisms in the pathogenesis of VaD, as has been established for AD. We first consider the anatomy and vascularization of the basal forebrain cholinergic neuronal system, emphasizing its susceptibility to the effects of arterial hypertension, sustained hypoperfusion, and ischemic cerebrovascular disease. The impact of aging and consequences of disruption of the cholinergic system in cognition and in control of cerebral blood flow are further discussed. We also summarize preclinical and clinical evidence supporting cholinergic deficits and the use of cholinesterase inhibitors in patients with VaD. We postulate that vascular pathology likely plays a common role in initiating cholinergic neuronal abnormalities in VaD and AD.

A Comparison of Passive Aggressive and Negativistic Personality Disorders

PubMed Central

Hopwood, Christopher J.; Wright, Aidan G.C.

2012-01-01

Passive aggressive personality disorder (PAPD) has historically played an important role in clinical theorizing and was diagnosable prior to the DSM-IV, in which the construct was relabeled ‘negativistic’, expanded to include negative affective symptoms, and appendicized. In this study we tested the hypothesis that the expansion of PAPD to include content related to negative moods and non-specific personality pathology compromised its discriminant validity. In an undergraduate sample (N = 1215), a self-report measure of PAPD was only moderately related to NEGPD and showed less diagnostic overlap with other PDs than NEGPD. Furthermore, a conjoint factor analysis yielded a strong first factor (moodiness) which appeared less specific to passive aggressive behavior than three other factors (irresponsibility, inadequacy and contempt). We conclude that future research on this potentially important clinical construct should focus on core passive aggressive features and abandon the negativistic content that has been added to it in successive editions of the DSM. PMID:22329420

Hippocampal sclerosis dementia: an amnesic variant of frontotemporal degeneration

PubMed Central

Onyike, Chiadi U.; Pletnikova, Olga; Sloane, Kelly L.; Sullivan, Campbell; Troncoso, Juan C.; Rabins, Peter V.

2013-01-01

OBJECTIVE To describe characteristics of hippocampal sclerosis dementia. METHODS Convenience sample of Hippocampal sclerosis dementia (HSD) recruited from the Johns Hopkins University Brain Resource Center. Twenty-four cases with post-mortem pathological diagnosis of hippocampal sclerosis dementia were reviewed for clinical characterization. RESULTS The cases showed atrophy and neuronal loss localized to the hippocampus, amygdala and entorrhinal cortex. The majority (79.2%) had amnesia at illness onset, and many (54.2%) showed abnormal conduct and psychiatric disorder. Nearly 42% presented with an amnesic state, and 37.5% presented with amnesia plus abnormal conduct and psychiatric disorder. All eventually developed a behavioral or psychiatric disorder. Disorientation, executive dysfunction, aphasia, agnosia and apraxia were uncommon at onset. Alzheimer disease (AD) was the initial clinical diagnosis in 89% and the final clinical diagnosis in 75%. Diagnosis of frontotemporal dementia (FTD) was uncommon (seen in 8%). CONCLUSION HSD shows pathological characteristics of FTD and clinical features that mimic AD and overlap with FTD. The findings, placed in the context of earlier work, support the proposition that HSD belongs to the FTD family, where it may be identified as an amnesic variant. PMID:24363834

Comorbid personality traits in schizophrenia: prevalence and clinical characteristics.

PubMed

Moore, Elizabeth A; Green, Melissa J; Carr, Vaughan J

2012-03-01

Accumulating evidence suggests high rates of personality disorder (PD) in schizophrenia (Sz), and as such, the implications of PD in this context are beginning to be studied more thoroughly. We examined clinical, cognitive and experiential (i.e., reported childhood adversity) correlates of aberrant personality traits in schizophrenia and healthy controls (HC) as measured by the International Personality Disorder Examination Questionnaire (IPDEQ). Participants were 549 individuals with schizophrenia or schizoaffective disorder, and 572 healthy adults recruited to the Australian Schizophrenia Research Bank (ASRB). Schizophrenia participants were significantly more likely than healthy controls to screen positive for personality disorder across all ICD-10 subtypes, and there was substantial overlap between clusters, with ∼33% of Sz participants screening positive for all 3 personality disorder clusters. Among both Sz and HC groups, cluster B personality characteristics were significantly associated with increased suicidal behaviours, lower cognitive performance, and the experience of childhood adversity. In addition, Cluster C personality features were associated with higher overall ratings of affective blunting in schizophrenia, and Cluster A personality features were associated with childhood 'loss' in HC participants only. The cumulative effects of screening positive for more than one personality disorder in Sz was associated with higher likelihood of suicidal behaviour, earlier age of onset of Sz, and poorer cognitive functioning. The results suggest that abnormal co-occurrence of personality traits across DSM-IV clusters is evident in a significant proportion of individuals with schizophrenia, and that these personality features impact significantly on clinical and cognitive characteristics of Sz. Copyright © 2011 Elsevier Ltd. 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.

From High Intellectual Potential to Asperger Syndrome: Evidence for Differences and a Fundamental Overlap—A Systematic Review

PubMed Central

Boschi, Aurélie; Planche, Pascale; Hemimou, Cherhazad; Demily, Caroline; Vaivre-Douret, Laurence

2016-01-01

Background: An increasing number of clinicians point to similar clinical features between some children with High Intellectual Potential (HIP or “Giftedness” = Total IQ > 2 SD), and children with Autism Spectrum Disorder (ASD) without intellectual or language delay, formerly diagnosed with Asperger Syndrome. Some of these common features are social interaction impairments, special interests, and in some cases high-verbal abilities. The aim of this article is to determine whether these similarities exist at more fundamental levels, other than clinical, and to explore the literature in order to provide empirical support for an overlap between ASD and HIP. Method: First, comparative studies between ASD and HIP children were sought. Because of a lack of data, the respective characteristics of ASD and HIP subjects were explored by a cross-sectional review of different areas of research. Emphasis was placed on psychometric and cognitive evaluations, experimental and developmental assessments, and neurobiological research, following a “bottom-up” procedure. Results: This review highlights the existence of similarities in the neurocognitive, developmental and neurobiological domains between these profiles, which require further study. In addition, the conclusions of several studies show that there are differences between HIP children with a homogeneous Intellectual Quotient profile and children with a heterogeneous Intellectual Quotient profile. Conclusion: HIP seems to cover different developmental profiles, one of which might share features with ASD. A new line of investigation providing a possible starting-point for future research is proposed. Its implications, interesting from both clinical and research perspectives, are discussed. PMID:27812341

Identifying subtypes among offenders with antisocial personality disorder: a cluster-analytic study.

PubMed

Poythress, Norman G; Edens, John F; Skeem, Jennifer L; Lilienfeld, Scott O; Douglas, Kevin S; Frick, Paul J; Patrick, Christopher J; Epstein, Monica; Wang, Tao

2010-05-01

The question of whether antisocial personality disorder (ASPD) and psychopathy are largely similar or fundamentally different constructs remains unresolved. In the Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV; American Psychiatric Association, 1994), many of the personality features of psychopathy are cast as associated features of ASPD, although the DSM-IV offers no guidance as to how, or the extent to which, these features relate to ASPD. In a sample of 691 offenders who met DSM-IV criteria for ASPD, we used model-based clustering to identify subgroups of individuals with relatively homogeneous profiles on measures of associated features (psychopathic personality traits) and other constructs with potential etiological significance for subtypes of ASPD. Two emergent groups displayed profiles that conformed broadly to theoretical descriptions of primary psychopathy and Karpman's (1941) variant of secondary psychopathy. As expected, a third group (nonpsychopathic ASPD) lacked substantial associated features. A fourth group exhibited elevated psychopathic features as well as a highly fearful temperament, a profile not clearly predicted by extant models. Planned comparisons revealed theoretically informative differences between primary and secondary groups in multiple domains, including self-report measures, passive avoidance learning, clinical ratings, and official records. Our results inform ongoing debates about the overlap between psychopathy and ASPD and raise questions about the wisdom of placing most individuals who habitually violate social norms and laws into a single diagnostic category.

Additional studies of forest classification accuracy as influenced by multispectral scanner spatial resolution

NASA Technical Reports Server (NTRS)

Sadowski, F. E.; Sarno, J. E.

1976-01-01

First, an analysis of forest feature signatures was used to help explain the large variation in classification accuracy that can occur among individual forest features for any one case of spatial resolution and the inconsistent changes in classification accuracy that were demonstrated among features as spatial resolution was degraded. Second, the classification rejection threshold was varied in an effort to reduce the large proportion of unclassified resolution elements that previously appeared in the processing of coarse resolution data when a constant rejection threshold was used for all cases of spatial resolution. For the signature analysis, two-channel ellipse plots showing the feature signature distributions for several cases of spatial resolution indicated that the capability of signatures to correctly identify their respective features is dependent on the amount of statistical overlap among signatures. Reductions in signature variance that occur in data of degraded spatial resolution may not necessarily decrease the amount of statistical overlap among signatures having large variance and small mean separations. Features classified by such signatures may thus continue to have similar amounts of misclassified elements in coarser resolution data, and thus, not necessarily improve in classification accuracy.

Staphylococcus aureus Community-acquired Pneumonia: Prevalence, Clinical Characteristics, and Outcomes

PubMed Central

Self, Wesley H.; Wunderink, Richard G.; Williams, Derek J.; Zhu, Yuwei; Anderson, Evan J.; Balk, Robert A.; Fakhran, Sherene S.; Chappell, James D.; Casimir, Geoffrey; Courtney, D. Mark; Trabue, Christopher; Waterer, Grant W.; Bramley, Anna; Magill, Shelley; Jain, Seema; Edwards, Kathryn M.; Grijalva, Carlos G.

2016-01-01

Background. Prevalence of Staphylococcus aureus community-acquired pneumonia (CAP) and its clinical features remain incompletely understood, complicating empirical selection of antibiotics. Methods. Using a multicenter, prospective surveillance study of adults hospitalized with CAP, we calculated the prevalence of methicillin-resistant S. aureus (MRSA) and methicillin-susceptible S. aureus (MSSA) among all CAP episodes. We compared the epidemiologic, radiographic, and clinical characteristics of S. aureus CAP (per respiratory or blood culture) with those of pneumococcal (per respiratory or blood culture or urine antigen) and all-cause non-S. aureus CAP using descriptive statistics. Results. Among 2259 adults hospitalized for CAP, 37 (1.6%) had S. aureus identified, including 15 (0.7%) with MRSA and 22 (1.0%) with MSSA; 115 (5.1%) had Streptococcus pneumoniae. Vancomycin or linezolid was administered to 674 (29.8%) patients within the first 3 days of hospitalization. Chronic hemodialysis use was more common among patients with MRSA (20.0%) than pneumococcal (2.6%) and all-cause non-S. aureus (3.7%) CAP. Otherwise, clinical features at admission were similar, including concurrent influenza infection, hemoptysis, multilobar infiltrates, and prehospital antibiotics. Patients with MRSA CAP had more severe clinical outcomes than those with pneumococcal CAP, including intensive care unit admission (86.7% vs 34.8%) and in-patient mortality (13.3% vs 4.4%). Conclusions. Despite very low prevalence of S. aureus and, specifically, MRSA, nearly one-third of adults hospitalized with CAP received anti-MRSA antibiotics. The clinical presentation of MRSA CAP overlapped substantially with pneumococcal CAP, highlighting the challenge of accurately targeting empirical anti-MRSA antibiotics with currently available clinical tools and the need for new diagnostic strategies. PMID:27161775

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.

PubMed

Nabbout, Rima; Depienne, Christel; Chipaux, Mathilde; Girard, Benoit; Souville, Isabelle; Trouillard, Oriane; Dulac, Olivier; Chelly, Jamel; Afenjar, Alexandra; Héron, Delphine; Leguern, Eric; Beldjord, Cherif; Bienvenu, Thierry; Bahi-Buisson, Nadia

2009-11-01

Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome (DS) is a distinctive epilepsy syndrome often associated with de novo mutations in the SCN1A gene. However, 25-30% patients with SMEI/DS are negative for SCN1A mutation screening, suggesting that other molecular mechanisms may account for these disorders. Given the overlapping and heterogeneous clinical features of CDKL5- and ARX-related epilepsies and SMEI/DS, we postulated that CDKL5 mutations in females and ARX mutations gene in males may be associated with early onset seizures forms of SMEI/DS. Twenty-eight patients with early onset SMEI/DS before 6 months negative for SCN1A mutational screening were selected and screened for mutations in the ARX gene in males (n=14) or the CDKL5 gene in females (n=14). No mutations in either gene were found except one intronic variation of uncertain pathogenicity in the CDKL5 gene. All patients started seizures at mean age of 3.48 months. Thirteen patients had familial history of epilepsy or febrile seizures. Patients evolved toward refractory epilepsy with generalized tonic clonic seizures (18/28) and myoclonia (23/28) and severe neurological impairment with autistic features (13/28), ataxia (14/28) and spasticity (5/28). No patient ever exhibited infantile spasms, dystonia, or Rett-like features. Our results illustrate that mutation screening of ARX and CDKL5 is not effective in patients selected on the basis of clinical signs associated to early onset SMEI/DS. In addition, they might reflect that other phenotypic features associated with CDKL5 mutations (Rett-like features, infantile spasm) or ARX mutations (dystonia, spasticity) are more distinctive. 2009 Elsevier B.V. All rights reserved.

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

PubMed

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

2011-07-01

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

Operationalization of Sign Language Phonological Similarity and its Effects on Lexical Access.

PubMed

Williams, Joshua T; Stone, Adam; Newman, Sharlene D

2017-07-01

Cognitive mechanisms for sign language lexical access are fairly unknown. This study investigated whether phonological similarity facilitates lexical retrieval in sign languages using measures from a new lexical database for American Sign Language. Additionally, it aimed to determine which similarity metric best fits the present data in order to inform theories of how phonological similarity is constructed within the lexicon and to aid in the operationalization of phonological similarity in sign language. Sign repetition latencies and accuracy were obtained when native signers were asked to reproduce a sign displayed on a computer screen. Results indicated that, as predicted, phonological similarity facilitated repetition latencies and accuracy as long as there were no strict constraints on the type of sublexical features that overlapped. The data converged to suggest that one similarity measure, MaxD, defined as the overlap of any 4 sublexical features, likely best represents mechanisms of phonological similarity in the mental lexicon. Together, these data suggest that lexical access in sign language is facilitated by phonologically similar lexical representations in memory and the optimal operationalization is defined as liberal constraints on overlap of 4 out of 5 sublexical features-similar to the majority of extant definitions in the literature. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Genetic and environmental overlap between borderline personality disorder traits and psychopathy: evidence for promotive effects of factor 2 and protective effects of factor 1.

PubMed

Hunt, E; Bornovalova, M A; Patrick, C J

2015-05-01

Previous studies have reported strong genetic and environmental overlap between antisocial-externalizing (factor 2; F2) features of psychopathy and borderline personality disorder (BPD) tendencies. However, this line of research has yet to examine etiological associations of affective-interpersonal (factor 1, F1) features of psychopathy with BPD tendencies. The current study investigated differential phenotypic and genetic overlap of psychopathy factors 1 and 2 with BPD tendencies in a sample of over 250 male and female community-recruited adult twin pairs. Consistent with previous research, biometric analyses revealed strong genetic and non-shared environmental correlations of F2 with BPD tendencies, suggesting that common genetic and non-shared environmental factors contribute to both phenotypes. In contrast, negative genetic and non-shared environmental correlations were observed between F1 and BPD tendencies, indicating that the genetic factors underlying F1 serve as protective factors against BPD. No gender differences emerged in the analyses. These findings provide further insight into associations of psychopathic features - F1 as well as F2 - and BPD tendencies. Implications for treatment and intervention are discussed, along with how psychopathic traits may differentially influence the manifestation of BPD tendencies.

Clinical characteristics of keratosis obturans and external auditory canal cholesteatoma.

PubMed

Park, So Young; Jung, Young Hoon; Oh, Jeong-Hoon

2015-02-01

Keratosis obturans (KO) and external auditory canal cholesteatoma (EACC) have been considered separate entities. While the disorders are distinct, they share many overlapping characteristics, making a correct diagnosis difficult. In the present study, we compared their clinical characteristics and radiological features to clarify the diagnostic criteria. Retrospective case series. Academic medical center. The clinical data of 23 cases of EACC and KO were retrospectively reviewed. The following clinical characteristics were compared between the 2 groups: sex, age, onset of symptoms, follow-up period, audiometric results, and imaging findings on temporal bone computed tomography including bilaterality, location, and the presence of extension to adjacent tissue. The mean age of the EACC group was significantly older than that of the KO group. All of the cases of EACC occurred unilaterally, and bilateral occurrences of KO were observed in 4 of 9 cases. All of the lesions in the KO group were circumferential, and no lesion in the EACC group invaded the superior canal wall. No significant differences in symptoms, such as acute otalgia, otorrhea, and hearing loss, were noted between the 2 groups. The incidence of conductive hearing impairment more than 10 dB was higher in the KO group than in the EACC group. Thus, KO and EACC are 2 distinct disease entities that share common features in clinical characteristics except for predominant age and bilaterality. Conservative treatment with meticulous cleaning of the lesion was successful in most cases with a long-term follow-up. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2014.

Clinical and molecular features of Joubert syndrome and related disorders

PubMed Central

Parisi, Melissa A.

2009-01-01

Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis. The clinical course can be variable, but most children with this condition survive infancy to reach adulthood. At least 8 genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. Several of the causative genes for JSRD are implicated in other ciliary disorders, such as juvenile nephronophthisis and Meckel syndrome, illustrating the close association between these conditions and their overlapping clinical features that reflect a shared etiology involving the primary cilium. PMID:19876931

Bipolar disorder with comorbid cluster B personality disorder features: impact on suicidality.

PubMed

Garno, Jessica L; Goldberg, Joseph F; Ramirez, Paul Michael; Ritzler, Barry A

2005-03-01

Because of their overlapping phenomenology and mutually chronic, persistent nature, distinctions between bipolar disorder and cluster B personality disorders remain a source of unresolved clinical controversy. The extent to which comorbid personality disorders impact course and outcome for bipolar patients also has received little systematic study. One hundred DSM-IV bipolar I (N = 73) or II (N = 27) patients consecutively underwent diagnostic evaluations with structured clinical interviews for DSM-IV Axis I and cluster B Axis II disorders, along with assessments of histories of childhood trauma or abuse. Cluster B diagnostic comorbidity was examined relative to lifetime substance abuse, suicide attempt histories, and other clinical features. Thirty percent of subjects met DSM-IV criteria for a cluster B personality disorder (17% borderline, 6% antisocial, 5% histrionic, 8% narcissistic). Cluster B diagnoses were significantly linked with histories of childhood emotional abuse (p = .009), physical abuse (p = .014), and emotional neglect (p = .022), but not sexual abuse or physical neglect. Cluster B comorbidity was associated with significantly more lifetime suicide attempts and current depression. Lifetime suicide attempts were significantly associated with cluster B comorbidity (OR = 3.195, 95% CI = 1.124 to 9.088), controlling for current depression severity, lifetime substance abuse, and past sexual or emotional abuse. Cluster B personality disorders are prevalent comorbid conditions identifiable in a substantial number of individuals with bipolar disorder, making an independent contribution to increased lifetime suicide risk.

Cognitive Emotion Regulation Strategies in Anxiety and Depression Understood as Types of Personality.

PubMed

Domaradzka, Ewa; Fajkowska, Małgorzata

2018-01-01

The identification of distinctive and overlapping features of anxiety and depression remains an important scientific problem. Currently, the literature does not allow to determine stable similarities and differences in the use of cognitive emotion regulation strategies (CERS) in anxiety and depression, especially concerning the adaptive strategies. Consequently, the aim of this study was to identify the overlapping and distinctive patterns of CERS use in the recently proposed types of anxiety and depression in a general population. In this dimensional approach, types of anxiety and depression are considered as personality types and distinguished based on their specific structural composition and functional role (reactive or regulative) in stimulation processing. 1,632 participants from a representative sample completed the Anxiety and Depression Questionnaire (measuring the Arousal and Apprehension Types of anxiety and the Valence and Anhedonic Types of depression) and the Cognitive Emotion Regulation Questionnaire. Regression analyses were conducted with the affective types as predictors. The co-occurrence of the types was accounted for in order to examine their independent relationships with the CERS. We found that reactive arousal anxiety was not related to any strategies, while regulative apprehension anxiety primarily predicted the use of rumination, which is presumably related to the type's cognitive structural components. The strategy specific to reactive valence depression was other-blame (as predicted by the high negative affect in its structure), and the regulative, most structurally complex anhedonic depression predicted the use of the largest number of strategies, including the adaptive ones. The relationships between the types of depression and self-blame and refocus on planning were moderated by sex but the effects were small. These findings fit into the current trend of exploring the shared and specific features of anxiety and depression, which might facilitate their differentiation by identifying CERS that are characteristic for the specific types. This information can be used for supporting diagnosis and targeting selected strategies in therapy both in clinical and non-clinical populations.

Automated treatment planning for a dedicated multi-source intra-cranial radiosurgery treatment unit accounting for overlapping structures and dose homogeneity

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

Ghobadi, Kimia; Ghaffari, Hamid R.; Aleman, Dionne M.

2013-09-15

Purpose: The purpose of this work is to advance the two-step approach for Gamma Knife{sup ®} Perfexion™ (PFX) optimization to account for dose homogeneity and overlap between the planning target volume (PTV) and organs-at-risk (OARs).Methods: In the first step, a geometry-based algorithm is used to quickly select isocentre locations while explicitly accounting for PTV-OARs overlaps. In this approach, the PTV is divided into subvolumes based on the PTV-OARs overlaps and the distance of voxels to the overlaps. Only a few isocentres are selected in the overlap volume, and a higher number of isocentres are carefully selected among voxels that aremore » immediately close to the overlap volume. In the second step, a convex optimization is solved to find the optimal combination of collimator sizes and their radiation duration for each isocentre location.Results: This two-step approach is tested on seven clinical cases (comprising 11 targets) for which the authors assess coverage, OARs dose, and homogeneity index and relate these parameters to the overlap fraction for each case. In terms of coverage, the mean V{sub 99} for the gross target volume (GTV) was 99.8% while the V{sub 95} for the PTV averaged at 94.6%, thus satisfying the clinical objectives of 99% for GTV and 95% for PTV, respectively. The mean relative dose to the brainstem was 87.7% of the prescription dose (with maximum 108%), while on average, 11.3% of the PTV overlapped with the brainstem. The mean beam-on time per fraction per dose was 8.6 min with calibration dose rate of 3.5 Gy/min, and the computational time averaged at 205 min. Compared with previous work involving single-fraction radiosurgery, the resulting plans were more homogeneous with average homogeneity index of 1.18 compared to 1.47.Conclusions: PFX treatment plans with homogeneous dose distribution can be achieved by inverse planning using geometric isocentre selection and mathematical modeling and optimization techniques. The quality of the obtained treatment plans are clinically satisfactory while the homogeneity index is improved compared to conventional PFX plans.« less

Clinical Predictors and Outcome of Metabolic Acidosis in Under-Five Children Admitted to an Urban Hospital in Bangladesh with Diarrhea and Pneumonia

PubMed Central

Chisti, Mohammod J.; Ahmed, Tahmeed; Ashraf, Hasan; Faruque, A. S. G.; Bardhan, Pradip K.; Dey, Sanjoy Kumer; Huq, Sayeeda; Das, Sumon Kumar; Salam, Mohammed A.

2012-01-01

Background Clinical features of metabolic acidosis and pneumonia frequently overlap in young diarrheal children, resulting in differentiation from each other very difficult. However, there is no published data on the predictors of metabolic acidosis in diarrheal children also having pneumonia. Our objective was to evaluate clinical predictors of metabolic acidosis in under-five diarrheal children with radiological pneumonia, and their outcome. Methods We prospectively enrolled all under-five children (n = 164) admitted to the Special Care Ward (SCW) of the Dhaka Hospital of icddr, b between September and December 2007 with diarrhea and radiological pneumonia who also had their total serum carbon-dioxide estimated. We compared the clinical features and outcome of children with radiological pneumonia and diarrhea with (n = 98) and without metabolic acidosis (n = 66). Results Children with metabolic acidosis more often had higher case-fatality (16% vs. 5%, p = 0.039) compared to those without metabolic acidosis on admission. In logistic regression analysis, after adjusting for potential confounders such as age of the patient, fever on admission, and severe wasting, the independent predictors of metabolic acidosis in under-five diarrheal children having pneumonia were clinical dehydration (OR 3.57, 95% CI 1.62–7.89, p = 0.002), and low systolic blood pressure even after full rehydration (OR 1.02, 95% CI 1.01–1.04, p = 0.005). Proportions of children with cough, respiratory rate/minute, lower chest wall indrawing, nasal flaring, head nodding, grunting respiration, and cyanosis were comparable (p>0.05) among the groups. Conclusion and Significance Under-five diarrheal children with radiological pneumonia having metabolic acidosis had frequent fatal outcome than those without acidosis. Clinical dehydration and persistent systolic hypotension even after adequate rehydration were independent clinical predictors of metabolic acidosis among the children. However, metabolic acidosis in young diarrheal children had no impact on the diagnostic clinical features of radiological pneumonia which underscores the importance of early initiation of appropriate antibiotics to combat morbidity and deaths in such population. PMID:22720060

Binding Sites Analyser (BiSA): Software for Genomic Binding Sites Archiving and Overlap Analysis

PubMed Central

Khushi, Matloob; Liddle, Christopher; Clarke, Christine L.; Graham, J. Dinny

2014-01-01

Genome-wide mapping of transcription factor binding and histone modification reveals complex patterns of interactions. Identifying overlaps in binding patterns by different factors is a major objective of genomic studies, but existing methods to archive large numbers of datasets in a personalised database lack sophistication and utility. Therefore we have developed transcription factor DNA binding site analyser software (BiSA), for archiving of binding regions and easy identification of overlap with or proximity to other regions of interest. Analysis results can be restricted by chromosome or base pair overlap between regions or maximum distance between binding peaks. BiSA is capable of reporting overlapping regions that share common base pairs; regions that are nearby; regions that are not overlapping; and average region sizes. BiSA can identify genes located near binding regions of interest, genomic features near a gene or locus of interest and statistical significance of overlapping regions can also be reported. Overlapping results can be visualized as Venn diagrams. A major strength of BiSA is that it is supported by a comprehensive database of publicly available transcription factor binding sites and histone modifications, which can be directly compared to user data. The documentation and source code are available on http://bisa.sourceforge.net PMID:24533055

Examining the Effects of Stiffness and Mass Difference on the Thermal Interface Conductance Between Lennard-Jones Solids

NASA Astrophysics Data System (ADS)

Gordiz, Kiarash; Henry, Asegun

2015-12-01

To date, the established methods that describe thermal interface conductance (TIC) and include mode-level dependence have not included anharmonicity. The current intuition is therefore based on the behavior in the harmonic limit, whereby the extent of overlap in the bulk phonon density of states (DoS) (e.g., frequency overlap) dictates the TIC and more frequency overlap leads to higher TIC. Here, we study over 2,000 interfaces described by the Lennard-Jones potential using equilibrium molecular dynamics simulations, whereby we systematically change the mass and stiffness of each side. We show that the trends in TIC do not generally follow that of the bulk phonon DoS overlap, but instead more closely follow the vibrational power spectrum overlap for the interfacial atoms. We then identify the frequency overlap in the interfacial power spectra as an improved descriptor for understanding the qualitative trends in TIC. Although improved, the results show that the basic intuition of frequency overlap is still insufficient to explain all of the features, as the remaining variations are shown to arise from anharmonicity, which is a critical effect to include in interface calculations above cryogenic temperatures.

Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.

PubMed

Mozzillo, Enza; Cozzolino, Carla; Genesio, Rita; Melis, Daniela; Frisso, Giulia; Orrico, Ada; Lombardo, Barbara; Fattorusso, Valentina; Discepolo, Valentina; Della Casa, Roberto; Simonelli, Francesca; Nitsch, Lucio; Salvatore, Francesco; Franzese, Adriana

2016-08-01

In childhood, several rare genetic diseases have overlapping symptoms and signs, including those regarding growth alterations, thus the differential diagnosis is sometimes difficult. The proband, aged 3 years, was suspected to have Silver-Russel syndrome because of intrauterine growth retardation, postnatal growth retardation, typical facial dysmorphic features, macrocephaly, body asymmetry, and bilateral fifth finger clinodactyly. Other features were left atrial and ventricular enlargement and patent foramen ovale. Total X-ray skeleton showed hypoplasia of the twelfth rib bilaterally and of the coccyx, slender long bones with thick cortex, and narrow medullary channels. The genetic investigation did not confirm Silver-Russel syndrome. At the age of 5 the patient developed an additional sign: hepatomegaly. Array CGH revealed a 147 kb deletion (involving TRIM 37 and SKA2 genes) on one allele of chromosome 17, inherited from his mother. These results suggested Mulibrey nanism. The clinical features were found to fit this hypothesis. Sequencing of the TRIM 37 gene showed a single base change at a splicing locus, inherited from his father that provoked a truncated protein. The combined use of Array CGH and DNA sequencing confirmed diagnosis of Mulibrey nanism. The large deletion involving the SKA2 gene, along with the increased frequency of malignant tumours in mulibrey patients, suggests closed monitoring for cancer of our patient and his mother. Array CGH should be performed as first tier test in all infants with multiple anomalies. The clinician should reconsider the clinical features when the genetics suggests this. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

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

Boutilier, Justin J., E-mail: j.boutilier@mail.utoronto.ca; Lee, Taewoo; Craig, Tim

Purpose: To develop and evaluate the clinical applicability of advanced machine learning models that simultaneously predict multiple optimization objective function weights from patient geometry for intensity-modulated radiation therapy of prostate cancer. Methods: A previously developed inverse optimization method was applied retrospectively to determine optimal objective function weights for 315 treated patients. The authors used an overlap volume ratio (OV) of bladder and rectum for different PTV expansions and overlap volume histogram slopes (OVSR and OVSB for the rectum and bladder, respectively) as explanatory variables that quantify patient geometry. Using the optimal weights as ground truth, the authors trained and appliedmore » three prediction models: logistic regression (LR), multinomial logistic regression (MLR), and weighted K-nearest neighbor (KNN). The population average of the optimal objective function weights was also calculated. Results: The OV at 0.4 cm and OVSR at 0.1 cm features were found to be the most predictive of the weights. The authors observed comparable performance (i.e., no statistically significant difference) between LR, MLR, and KNN methodologies, with LR appearing to perform the best. All three machine learning models outperformed the population average by a statistically significant amount over a range of clinical metrics including bladder/rectum V53Gy, bladder/rectum V70Gy, and dose to the bladder, rectum, CTV, and PTV. When comparing the weights directly, the LR model predicted bladder and rectum weights that had, on average, a 73% and 74% relative improvement over the population average weights, respectively. The treatment plans resulting from the LR weights had, on average, a rectum V70Gy that was 35% closer to the clinical plan and a bladder V70Gy that was 29% closer, compared to the population average weights. Similar results were observed for all other clinical metrics. Conclusions: The authors demonstrated that the KNN and MLR weight prediction methodologies perform comparably to the LR model and can produce clinical quality treatment plans by simultaneously predicting multiple weights that capture trade-offs associated with sparing multiple OARs.« less

Osteoid producing primary lesion at morphologic and biologic interface.

PubMed

Sarkar, Reena Radhikaprasad

2015-01-01

Fibroosseous gnathic lesions comprise a wide spectrum of diseases. Many of the entities have overlapping features. A pediatric case is encountered with a complex clinicopathologic profile. Although radiographically the lesion appears benign but on histopathological examination it possesses features of osteoid producing aggressive neoplasm. This paper highlights the unusual histologic features existing within the spectrum of fibroosseous lesions and discusses relevant clinicopathologic correlations.

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.

A computational system for lattice QCD with overlap Dirac quarks

NASA Astrophysics Data System (ADS)

Chiu, Ting-Wai; Hsieh, Tung-Han; Huang, Chao-Hsi; Huang, Tsung-Ren

2003-05-01

We outline the essential features of a Linux PC cluster which is now being developed at National Taiwan University, and discuss how to optimize its hardware and software for lattice QCD with overlap Dirac quarks. At present, the cluster constitutes of 30 nodes, with each node consisting of one Pentium 4 processor (1.6/2.0 GHz), one Gbyte of PC800 RDRAM, one 40/80 Gbyte hard disk, and a network card. The speed of this system is estimated to be 30 Gflops, and its price/performance ratio is better than $1.0/Mflops for 64-bit (double precision) computations in quenched lattice QCD with overlap Dirac quarks.

Detection and Evaluation of Pre-Preg Gaps and Overlaps in Glare Laminates

NASA Astrophysics Data System (ADS)

Nardi, Davide; Abouhamzeh, Morteza; Leonard, Rob; Sinke, Jos

2018-03-01

Gaps and overlaps between pre-preg plies represent common flaws in composite materials that can be introduced easily in an automated fibre placement manufacturing process and are potentially detrimental for the mechanical performances of the final laminates. Whereas gaps and overlaps have been addressed for full composite material, the topic has not been extended to a hybrid composite material such as Glare, a member of the family of Fibre Metal Laminates (FMLs). In this paper/research, the manufacturing, the detection, and the optical evaluation of intraply gaps and overlaps in Glare laminates are investigated. As part of an initial assessment study on the effect of gaps and overlaps on Glare, only the most critical lay-up has been considered. The experimental investigation started with the manufacturing of specimens having gaps and overlaps with different widths, followed by a non-destructive ultrasonic-inspection. An optical evaluation of the gaps and overlaps was performed by means of microscope image analysis of the cross sections of the specimens. The results from the non-destructive evaluations show the effectiveness of the ultrasonic detection of gaps and overlaps both in position, shape, width, and severity. The optical inspections confirm the accuracy of the non-destructive evaluation also adding useful insights about the geometrical features due to the presence of gaps and overlaps in the final Glare laminates. All the results justify the need for a further investigation on the effect of gaps and overlaps on the mechanical properties.

Measuring content overlap during handoff communication using distributional semantics: An exploratory study.

PubMed

Abraham, Joanna; Kannampallil, Thomas G; Srinivasan, Vignesh; Galanter, William L; Tagney, Gail; Cohen, Trevor

2017-01-01

We develop and evaluate a methodological approach to measure the degree and nature of overlap in handoff communication content within and across clinical professions. This extensible, exploratory approach relies on combining techniques from conversational analysis and distributional semantics. We audio-recorded handoff communication of residents and nurses on the General Medicine floor of a large academic hospital (n=120 resident and n=120 nurse handoffs). We measured semantic similarity, a proxy for content overlap, between resident-resident and nurse-nurse communication using multiple steps: a qualitative conversational content analysis; an automated semantic similarity analysis using Reflective Random Indexing (RRI); and comparing semantic similarity generated by RRI analysis with human ratings of semantic similarity. There was significant association between the semantic similarity as computed by the RRI method and human rating (ρ=0.88). Based on the semantic similarity scores, content overlap was relatively higher for content related to patient active problems, assessment of active problems, patient-identifying information, past medical history, and medications/treatments. In contrast, content overlap was limited on content related to allergies, family-related information, code status, and anticipatory guidance. Our approach using RRI analysis provides new opportunities for characterizing the nature and degree of overlap in handoff communication. Although exploratory, this method provides a basis for identifying content that can be used for determining shared understanding across clinical professions. Additionally, this approach can inform the development of flexibly standardized handoff tools that reflect clinical content that are most appropriate for fostering shared understanding during transitions of care. Copyright © 2016 Elsevier Inc. All rights reserved.

Ectodermal dysplasias: a new clinical-genetic classification

PubMed Central

Priolo, M.; Lagana, C.

2001-01-01

The ectodermal dysplasias (EDs) are a large and complex nosological group of diseases, first described by Thurnam in 1848. In the last 10 years more than 170 different pathological clinical conditions have been recognised and defined as EDs, all sharing in common anomalies of the hair, teeth, nails, and sweat glands. Many are associated with anomalies in other organs and systems and, in some conditions, with mental retardation.
The anomalies affecting the epidermis and epidermal appendages are extremely variable and clinical overlap is present among the majority of EDs. Most EDs are defined by particular clinical signs (for example, eyelid adhesion in AEC syndrome, ectrodactyly in EEC). To date, few causative genes have been identified for these diseases.
We recently reviewed genes known to be responsible for EDs in light of their molecular and biological function and proposed a new approach to EDs, integrating both molecular-genetic data and corresponding clinical findings. Based on our previous report, we now propose a clinical-genetic classification of EDs, expand it to other entities in which no causative genes have been identified based on the phenotype, and speculate on possible candidate genes suggested by associated "non-ectodermal" features.


Keywords: ectodermal dysplasia; clinical-functional correlation; epithelial-mesenchymal interaction; ectodermal structural proteins PMID:11546825

Tandem duplication within a Neurofibromatosis type I (NFI) gene exon in a family with features of Watson syndrome and Noonan syndrome

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

Tassabehji, M.; Strachan, T.; Colley, A.

Type 1 neurofibromatosis (NF1), Watson syndrome (WS), and Noonan syndrome (NS) show some overlap in clinical manifestations. In addition, WS has been shown to be linked to markers flanking the NF1 locus and a deletion at the NF1 locus demonstrated in a WS patient. This suggests either that WS and NF1 are allelic or the phenotypes arise from mutations in very closely linked genes. Here the authors provide evidence for the former by demonstrating a mutation in the NF1 gene in a family with features of both WS and NS. The mutation is an almost perfect in-frame tandem duplication ofmore » 42 bases in exon 28 of the NF1 gene. Unlike the mutations previously described in classical NF1, which show a preponderance of null alleles, the mutation in this family would be expected to result in a mutant neurofibromin product. 31 refs., 2 figs.« less

Nearest neighbor 3D segmentation with context features

NASA Astrophysics Data System (ADS)

Hristova, Evelin; Schulz, Heinrich; Brosch, Tom; Heinrich, Mattias P.; Nickisch, Hannes

2018-03-01

Automated and fast multi-label segmentation of medical images is challenging and clinically important. This paper builds upon a supervised machine learning framework that uses training data sets with dense organ annotations and vantage point trees to classify voxels in unseen images based on similarity of binary feature vectors extracted from the data. Without explicit model knowledge, the algorithm is applicable to different modalities and organs, and achieves high accuracy. The method is successfully tested on 70 abdominal CT and 42 pelvic MR images. With respect to ground truth, an average Dice overlap score of 0.76 for the CT segmentation of liver, spleen and kidneys is achieved. The mean score for the MR delineation of bladder, bones, prostate and rectum is 0.65. Additionally, we benchmark several variations of the main components of the method and reduce the computation time by up to 47% without significant loss of accuracy. The segmentation results are - for a nearest neighbor method - surprisingly accurate, robust as well as data and time efficient.

Molecular Pathways Bridging Frontotemporal Lobar Degeneration and Psychiatric Disorders

PubMed Central

Zanardini, Roberta; Ciani, Miriam; Benussi, Luisa; Ghidoni, Roberta

2016-01-01

The overlap of symptoms between neurodegenerative and psychiatric diseases has been reported. Neuropsychiatric alterations are commonly observed in dementia, especially in the behavioral variant of frontotemporal dementia (bvFTD), which is the most common clinical FTD subtype. At the same time, psychiatric disorders, like schizophrenia (SCZ), can display symptoms of dementia, including features of frontal dysfunction with relative sparing of memory. In the present review, we discuss common molecular features in these pathologies with a special focus on FTD. Molecules like Brain Derived Neurotrophic Factor (BDNF) and progranulin are linked to the pathophysiology of both neurodegenerative and psychiatric diseases. In these brain-associated illnesses, the presence of disease-associated variants in BDNF and progranulin (GRN) genes cause a reduction of circulating proteins levels, through alterations in proteins expression or secretion. For these reasons, we believe that prevention and therapy of psychiatric and neurological disorders could be achieved enhancing both BDNF and progranulin levels thanks to drug discovery efforts. PMID:26869919

World Gastroenterology Organization Practice Guidelines for the diagnosis and management of IBD in 2010.

PubMed

Bernstein, Charles N; Fried, Michael; Krabshuis, J H; Cohen, Henry; Eliakim, R; Fedail, Suleiman; Gearry, Richard; Goh, K L; Hamid, Saheed; Khan, Aamir Ghafor; LeMair, A W; Malfertheiner; Ouyang, Qin; Rey, J F; Sood, Ajit; Steinwurz, Flavio; Thomsen, Ole O; Thomson, Alan; Watermeyer, Gillian

2010-01-01

Inflammatory bowel disease (IBD) represents a group of idiopathic, chronic, inflammatory intestinal conditions. Its two main disease categories are: Crohn's disease (CD) and ulcerative colitis (UC), which feature both overlapping and distinct clinical and pathological features. While these diseases have, in the past, been most evident in the developed world, their prevalence in the developing world has been gradually increasing in recent decades. This poses unique issues in diagnosis and management which have been scarcely addressed in the literature or in extant guidelines. Depending on the nature of the complaints, investigations to diagnose either form of IBD or to assess disease activity will vary and will also be influenced by geographic variations in other conditions that might mimic IBD. Similarly, therapy varies depending on the phenotype of the disease being treated and available resources. The World Gastroenterology Organization has, accordingly, developed guidelines for diagnosing and treating IBD using a cascade approach to account for variability in resources in countries around the world.

The myositis autoantibody phenotypes of the juvenile idiopathic inflammatory myopathies.

PubMed

Rider, Lisa G; Shah, Mona; Mamyrova, Gulnara; Huber, Adam M; Rice, Madeline Murguia; Targoff, Ira N; Miller, Frederick W

2013-07-01

The juvenile idiopathic inflammatory myopathies (JIIM) are systemic autoimmune diseases characterized by skeletal muscle weakness, characteristic rashes, and other systemic features. In follow-up to our study defining the major clinical subgroup phenotypes of JIIM, we compared demographics, clinical features, laboratory measures, and outcomes among myositis-specific autoantibody (MSA) subgroups, as well as with published data on adult idiopathic inflammatory myopathy patients enrolled in a separate natural history study. In the present study, of 430 patients enrolled in a nationwide registry study who had serum tested for myositis autoantibodies, 374 had either a single specific MSA (n = 253) or no identified MSA (n = 121) and were the subject of the present report. Following univariate analysis, we used random forest classification and exact logistic regression modeling to compare autoantibody subgroups. Anti-p155/140 autoantibodies were the most frequent subgroup, present in 32% of patients with juvenile dermatomyositis (JDM) or overlap myositis with JDM, followed by anti-MJ autoantibodies, which were seen in 20% of JIIM patients, primarily in JDM. Other MSAs, including anti-synthetase, anti-signal recognition particle (SRP), and anti-Mi-2, were present in only 10% of JIIM patients. Features that characterized the anti-p155/140 autoantibody subgroup included Gottron papules, malar rash, "shawl-sign" rash, photosensitivity, cuticular overgrowth, lowest creatine kinase (CK) levels, and a predominantly chronic illness course. The features that differed for patients with anti-MJ antibodies included muscle cramps, dysphonia, intermediate CK levels, a high frequency of hospitalization, and a monocyclic disease course. Patients with anti-synthetase antibodies had higher frequencies of interstitial lung disease, arthralgia, and "mechanic's hands," and had an older age at diagnosis. The anti-SRP group, which had exclusively juvenile polymyositis, was characterized by high frequencies of black race, severe onset, distal weakness, falling episodes, Raynaud phenomenon, cardiac involvement, high CK levels, chronic disease course, frequent hospitalization, and wheelchair use. Characteristic features of the anti-Mi-2 subgroup included Hispanic ethnicity, classic dermatomyositis and malar rashes, high CK levels, and very low mortality. Finally, the most common features of patients without any currently defined MSA or myositis-associated autoantibodies included linear extensor erythema, arthralgia, and a monocyclic disease course. Several demographic and clinical features were shared between juvenile and adult idiopathic inflammatory myopathy subgroups, but with several important differences. We conclude that juvenile myositis is a heterogeneous group of illnesses with distinct autoantibody phenotypes defined by varying clinical and demographic characteristics, laboratory features, and outcomes.

The Myositis Autoantibody Phenotypes of the Juvenile Idiopathic Inflammatory Myopathies

PubMed Central

Shah, Mona; Mamyrova, Gulnara; Huber, Adam M.; Rice, Madeline Murguia; Targoff, Ira N.; Miller, Frederick W.

2013-01-01

Abstract The juvenile idiopathic inflammatory myopathies (JIIM) are systemic autoimmune diseases characterized by skeletal muscle weakness, characteristic rashes, and other systemic features. In follow-up to our study defining the major clinical subgroup phenotypes of JIIM, we compared demographics, clinical features, laboratory measures, and outcomes among myositis-specific autoantibody (MSA) subgroups, as well as with published data on adult idiopathic inflammatory myopathy patients enrolled in a separate natural history study. In the present study, of 430 patients enrolled in a nationwide registry study who had serum tested for myositis autoantibodies, 374 had either a single specific MSA (n = 253) or no identified MSA (n = 121) and were the subject of the present report. Following univariate analysis, we used random forest classification and exact logistic regression modeling to compare autoantibody subgroups. Anti-p155/140 autoantibodies were the most frequent subgroup, present in 32% of patients with juvenile dermatomyositis (JDM) or overlap myositis with JDM, followed by anti-MJ autoantibodies, which were seen in 20% of JIIM patients, primarily in JDM. Other MSAs, including anti-synthetase, anti-signal recognition particle (SRP), and anti-Mi-2, were present in only 10% of JIIM patients. Features that characterized the anti-p155/140 autoantibody subgroup included Gottron papules, malar rash, “shawl-sign” rash, photosensitivity, cuticular overgrowth, lowest creatine kinase (CK) levels, and a predominantly chronic illness course. The features that differed for patients with anti-MJ antibodies included muscle cramps, dysphonia, intermediate CK levels, a high frequency of hospitalization, and a monocyclic disease course. Patients with anti-synthetase antibodies had higher frequencies of interstitial lung disease, arthralgia, and “mechanic’s hands,” and had an older age at diagnosis. The anti-SRP group, which had exclusively juvenile polymyositis, was characterized by high frequencies of black race, severe onset, distal weakness, falling episodes, Raynaud phenomenon, cardiac involvement, high CK levels, chronic disease course, frequent hospitalization, and wheelchair use. Characteristic features of the anti-Mi-2 subgroup included Hispanic ethnicity, classic dermatomyositis and malar rashes, high CK levels, and very low mortality. Finally, the most common features of patients without any currently defined MSA or myositis-associated autoantibodies included linear extensor erythema, arthralgia, and a monocyclic disease course. Several demographic and clinical features were shared between juvenile and adult idiopathic inflammatory myopathy subgroups, but with several important differences. We conclude that juvenile myositis is a heterogeneous group of illnesses with distinct autoantibody phenotypes defined by varying clinical and demographic characteristics, laboratory features, and outcomes. PMID:23877355

Lexical Processing in Toddlers with ASD: Does Weak Central Coherence Play a Role?

PubMed

Ellis Weismer, Susan; Haebig, Eileen; Edwards, Jan; Saffran, Jenny; Venker, Courtney E

2016-12-01

This study investigated whether vocabulary delays in toddlers with autism spectrum disorders (ASD) can be explained by a cognitive style that prioritizes processing of detailed, local features of input over global contextual integration-as claimed by the weak central coherence (WCC) theory. Thirty toddlers with ASD and 30 younger, cognition-matched typical controls participated in a looking-while-listening task that assessed whether perceptual or semantic similarities among named images disrupted word recognition relative to a neutral condition. Overlap of perceptual features invited local processing whereas semantic overlap invited global processing. With the possible exception of a subset of toddlers who had very low vocabulary skills, these results provide no evidence that WCC is characteristic of lexical processing in toddlers with ASD.

Benchmarking database performance for genomic data.

PubMed

Khushi, Matloob

2015-06-01

Genomic regions represent features such as gene annotations, transcription factor binding sites and epigenetic modifications. Performing various genomic operations such as identifying overlapping/non-overlapping regions or nearest gene annotations are common research needs. The data can be saved in a database system for easy management, however, there is no comprehensive database built-in algorithm at present to identify overlapping regions. Therefore I have developed a novel region-mapping (RegMap) SQL-based algorithm to perform genomic operations and have benchmarked the performance of different databases. Benchmarking identified that PostgreSQL extracts overlapping regions much faster than MySQL. Insertion and data uploads in PostgreSQL were also better, although general searching capability of both databases was almost equivalent. In addition, using the algorithm pair-wise, overlaps of >1000 datasets of transcription factor binding sites and histone marks, collected from previous publications, were reported and it was found that HNF4G significantly co-locates with cohesin subunit STAG1 (SA1).Inc. © 2015 Wiley Periodicals, Inc.

Frequency and predictive factors for overlap syndrome between autoimmune hepatitis and primary cholestatic liver disease.

PubMed

Gheorghe, Liana; Iacob, Speranta; Gheorghe, Cristian; Iacob, Razvan; Simionov, Iulia; Vadan, Roxana; Becheanu, Gabriel; Parvulescu, Iuliana; Toader, Cristina

2004-06-01

To evaluate the frequency of cholestatic pattern in patients with autoimmune hepatitis (AIH) and to identify predictive factors associated with the development of the overlap syndrome. Eighty-two consecutive patients diagnosed with AIH at the referral centre between January 1998 and June 2002 were included in the study. The new scoring system modified by the International Autoimmune Hepatitis Group was used to classify patients as definite/probable. Overlap syndrome was considered when the patient had clinical, serological and histological characteristics of two conditions: AIH and primary biliary cirrhosis (PBC) or AIH and primary sclerosing cholangitis (PSC). From the 82 AIH patients (76 female and six male), 84.1% presented definite AIH (> 15 points) and 15.9% probable AIH (10 - 15 points). The frequency of the overlap syndrome was 20%: 13% with PBC and 7% with PSC. In the univariate analysis the overlap syndrome was associated with male gender (P = 0.01), age < 35 years (P < 0.0001), histopathological aspect of cholestasis (P < 0.0001), suboptimal response to treatment (P < 0.0001) and probable AIH (P < 0.0001). Age < 35 years, probable AIH and the absence of anti-nuclear antibody (ANA) have been identified as independent indicators of the overlap diagnosis by the logistic regression analysis. Patients with overlap syndrome between AIH and primary cholestatic liver disease are frequently diagnosed in clinical practice, representing 20% of AIH cases in our study. The independent predictive factors associated with the diagnosis of overlap syndrome are young age, ANA(-) profile, and probable diagnosis according with the scoring system for AIH.

Improving de novo sequence assembly using machine learning and comparative genomics for overlap correction.

PubMed

Palmer, Lance E; Dejori, Mathaeus; Bolanos, Randall; Fasulo, Daniel

2010-01-15

With the rapid expansion of DNA sequencing databases, it is now feasible to identify relevant information from prior sequencing projects and completed genomes and apply it to de novo sequencing of new organisms. As an example, this paper demonstrates how such extra information can be used to improve de novo assemblies by augmenting the overlapping step. Finding all pairs of overlapping reads is a key task in many genome assemblers, and to this end, highly efficient algorithms have been developed to find alignments in large collections of sequences. It is well known that due to repeated sequences, many aligned pairs of reads nevertheless do not overlap. But no overlapping algorithm to date takes a rigorous approach to separating aligned but non-overlapping read pairs from true overlaps. We present an approach that extends the Minimus assembler by a data driven step to classify overlaps as true or false prior to contig construction. We trained several different classification models within the Weka framework using various statistics derived from overlaps of reads available from prior sequencing projects. These statistics included percent mismatch and k-mer frequencies within the overlaps as well as a comparative genomics score derived from mapping reads to multiple reference genomes. We show that in real whole-genome sequencing data from the E. coli and S. aureus genomes, by providing a curated set of overlaps to the contigging phase of the assembler, we nearly doubled the median contig length (N50) without sacrificing coverage of the genome or increasing the number of mis-assemblies. Machine learning methods that use comparative and non-comparative features to classify overlaps as true or false can be used to improve the quality of a sequence assembly.

Sequential transcatheter aortic valve implantation due to valve dislodgement - a Portico valve implanted over a CoreValve bioprosthesis.

PubMed

Campante Teles, Rui; Costa, Cátia; Almeida, Manuel; Brito, João; Sondergaard, Lars; Neves, José P; Abecasis, João; M Gabriel, Henrique

2017-03-01

Transcatheter aortic valve implantation (TAVI) has become an important treatment in high surgical risk patients with severe aortic stenosis (AS), whose complications need to be managed promptly. The authors report the case of an 86-year-old woman presenting with severe symptomatic AS, rejected for surgery due to advanced age and comorbidities. The patient underwent a first TAVI, with implantation of a Medtronic CoreValve ® , which became dislodged and migrated to the ascending aorta. Due to the previous balloon valvuloplasty, the patient's AS became moderate, and her symptoms improved. After several months, she required another intervention, performed with a St. Jude Portico ® repositionable self-expanding transcatheter aortic valve. There was a good clinical response that was maintained at one-year follow-up. The use of a self-expanding transcatheter bioprosthesis with repositioning features is a solution in cases of valve dislocation to avoid suboptimal positioning of a second implant, especially when the two valves have to be positioned overlapping or partially overlapping each other. Copyright © 2017 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

Reading words and other people: A comparison of exception word, familiar face and affect processing in the left and right temporal variants of primary progressive aphasia.

PubMed

Binney, Richard J; Henry, Maya L; Babiak, Miranda; Pressman, Peter S; Santos-Santos, Miguel A; Narvid, Jared; Mandelli, Maria Luisa; Strain, Paul J; Miller, Bruce L; Rankin, Katherine P; Rosen, Howard J; Gorno-Tempini, Maria Luisa

2016-09-01

Semantic variant primary progressive aphasia (svPPA) typically presents with left-hemisphere predominant rostral temporal lobe (rTL) atrophy and the most significant complaints within the language domain. Less frequently, patients present with right-hemisphere predominant temporal atrophy coupled with marked impairments in processing of famous faces and emotions. Few studies have objectively compared these patient groups in both domains and therefore it is unclear to what extent the syndromes overlap. Clinically diagnosed svPPA patients were characterized as left- (n = 21) or right-predominant (n = 12) using imaging and compared along with 14 healthy controls. Regarding language, our primary focus was upon two hallmark features of svPPA; confrontation naming and surface dyslexia. Both groups exhibited naming deficits and surface dyslexia although the impairments were more severe in the left-predominant group. Familiarity judgments on famous faces and affect processing were more profoundly impaired in the right-predominant group. Our findings suggest that the two syndromes overlap significantly but that early cases at the tail ends of the continuum constitute a challenge for current clinical criteria. Correlational neuroimaging analyses implicated a mid portion of the left lateral temporal lobe in exception word reading impairments in line with proposals that this region is an interface between phonology and semantic knowledge. Copyright © 2016 Elsevier Ltd. All rights reserved.

Social anxiety disorders in clinical practice: differentiating social phobia from avoidant personality disorder.

PubMed

Lampe, Lisa

2015-08-01

To outline the problems around overlap between social phobia (SAD) and avoidant personality disorder (AVPD) and provide guidelines that may assist clinicians to differentiate these conditions. A constellation of symptoms can be identified that may distinguish AVPD from SAD, with key features being a strong and pervasively negative self-concept, a view of rejection as equating to a global evaluation of the individual as being of little worth and a sense of not fitting in socially that dates from early childhood. It is important to identify the presence of AVPD in order to anticipate potential problems with engagement and retention in therapy, to target treatment interventions and optimise outcome. © The Royal Australian and New Zealand College of Psychiatrists 2015.

Patients with autoimmune hepatitis who have antimitochondrial antibodies need long-term follow-up to detect late development of primary biliary cirrhosis.

PubMed

Dinani, Amreen M; Fischer, Sandra E; Mosko, Jeff; Guindi, Maha; Hirschfield, Gideon M

2012-06-01

Patients with autoimmune hepatitis (AIH) who have antibodies against mitochondrial proteins (AMA positive) are believed to have an autoimmune syndrome that should be managed as AIH. Of patients with AMA-positive AIH, we report on 3 individuals to demonstrate how autoimmune liver disease can progress over time. Specific features of primary biliary cirrhosis (PBC) overlapped in time in these patients. Our observations indicate the importance of careful follow up of patients with AMA-positive AIH; health care professionals that treat such patients should therefore be aware of longitudinal clinical changes that might indicate development of PBC in this setting. Copyright © 2012 AGA Institute. Published by Elsevier Inc. All rights reserved.

Velo-Cardio-Facial Syndrome and Psychotic Disorders

PubMed Central

Chow, Eva W.C.; Bassett, Anne S.; Weksberg, Rosanna

2011-01-01

Psychiatric disorders have been reported in over 10% of patients with velo-cardio-facial syndrome (VCFS) in long-term follow-up. To further explore the behavioral and psychiatric findings associated with VCFS in adulthood, detailed clinical histories of two patients—one with VCFS who developed a psychotic illness, and one with schizophrenia who was found to have dysmorphological features associated with VCFS—are described in the current report. The observed overlap of physical and psychiatric symptoms in these two patients suggests that VCFS and psychotic disorders may share a pathogenetic mechanism. This could be consistent with a contiguous gene model for VCFS and psychosis, suggesting chromosome 22q11 as a possible candidate region for genetic studies of schizophrenia. PMID:8074160

Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.

PubMed

Zaki, Maha S; Masri, Amira; Gregor, Anne; Gleeson, Joseph G; Rosti, Rasim Ozgur

2015-11-01

We report on two families, each with documented consanguinity and two affected with overlapping features of Dandy-Walker malformation, genitourinary abnormalities, intellectual disability, and hearing deficit. This phenotype shares similar findings with many well-known syndromes. However, the clinical findings of this syndrome categorize this as a new syndrome as compared with the phenotype of already established syndromes. Due to parental consanguinity, occurrence in siblings of both genders and the absence of manifestations in obligate carrier parents, an autosomal recessive pattern of inheritance is more likely. The authors believe that these families suggest a novel autosomal recessive cerebello-genital syndrome. Array CGH analyses of an affected did not show pathological deletions or duplications. © 2015 Wiley Periodicals, Inc.

Evaluating segmentation error without ground truth.

PubMed

Kohlberger, Timo; Singh, Vivek; Alvino, Chris; Bahlmann, Claus; Grady, Leo

2012-01-01

The automatic delineation of the boundaries of organs and other anatomical structures is a key component of many medical image processing systems. In this paper we present a generic learning approach based on a novel space of segmentation features, which can be trained to predict the overlap error and Dice coefficient of an arbitrary organ segmentation without knowing the ground truth delineation. We show the regressor to be much stronger a predictor of these error metrics than the responses of probabilistic boosting classifiers trained on the segmentation boundary. The presented approach not only allows us to build reliable confidence measures and fidelity checks, but also to rank several segmentation hypotheses against each other during online usage of the segmentation algorithm in clinical practice.

Molecular Mechanisms in Perirhinal Cortex Selectively Necessary for Discrimination of Overlapping Memories, but Independent of Memory Persistence

PubMed Central

Miranda, Magdalena; Kent, Brianne A.; Weisstaub, Noelia V.

2017-01-01

Abstract Successful memory involves not only remembering over time but also keeping memories distinct. The ability to separate similar experiences into distinct memories is a main feature of episodic memory. Discrimination of overlapping representations has been investigated in the dentate gyrus of the hippocampus (DG), but little is known about this process in other regions such as the perirhinal cortex (Prh). We found in male rats that perirhinal brain-derived neurotrophic factor (BDNF) is required for separable storage of overlapping, but not distinct, object representations, which is identical to its role in the DG for spatial representations. Also, activity-regulated cytoskeletal-associated protein (Arc) is required for disambiguation of object memories, as measured by infusion of antisense oligonucleotides. This is the first time Arc has been implicated in the discrimination of objects with overlapping features. Although molecular mechanisms for object memory have been shown previously in Prh, these have been dependent on delay, suggesting a role specifically in memory duration. BDNF and Arc involvement were independent of delay—the same demand for memory persistence was present in all conditions—but only when discrimination of similar objects was required were these mechanisms recruited and necessary. Finally, we show that BDNF and Arc participate in the same pathway during consolidation of overlapping object memories. We provide novel evidence regarding the proteins involved in disambiguation of object memories outside the DG and suggest that, despite the anatomical differences, similar mechanisms underlie this process in the DG and Prh that are engaged depending on the similarity of the stimuli. PMID:29085903

Brain activity during auditory and visual phonological, spatial and simple discrimination tasks.

PubMed

Salo, Emma; Rinne, Teemu; Salonen, Oili; Alho, Kimmo

2013-02-16

We used functional magnetic resonance imaging to measure human brain activity during tasks demanding selective attention to auditory or visual stimuli delivered in concurrent streams. Auditory stimuli were syllables spoken by different voices and occurring in central or peripheral space. Visual stimuli were centrally or more peripherally presented letters in darker or lighter fonts. The participants performed a phonological, spatial or "simple" (speaker-gender or font-shade) discrimination task in either modality. Within each modality, we expected a clear distinction between brain activations related to nonspatial and spatial processing, as reported in previous studies. However, within each modality, different tasks activated largely overlapping areas in modality-specific (auditory and visual) cortices, as well as in the parietal and frontal brain regions. These overlaps may be due to effects of attention common for all three tasks within each modality or interaction of processing task-relevant features and varying task-irrelevant features in the attended-modality stimuli. Nevertheless, brain activations caused by auditory and visual phonological tasks overlapped in the left mid-lateral prefrontal cortex, while those caused by the auditory and visual spatial tasks overlapped in the inferior parietal cortex. These overlapping activations reveal areas of multimodal phonological and spatial processing. There was also some evidence for intermodal attention-related interaction. Most importantly, activity in the superior temporal sulcus elicited by unattended speech sounds was attenuated during the visual phonological task in comparison with the other visual tasks. This effect might be related to suppression of processing irrelevant speech presumably distracting the phonological task involving the letters. Copyright © 2012 Elsevier B.V. All rights reserved.

Defining the Asthma-COPD Overlap Syndrome in a COPD Cohort.

PubMed

Cosio, Borja G; Soriano, Joan B; López-Campos, Jose Luis; Calle-Rubio, Myriam; Soler-Cataluna, Juan José; de-Torres, Juan P; Marín, Jose M; Martínez-Gonzalez, Cristina; de Lucas, Pilar; Mir, Isabel; Peces-Barba, Germán; Feu-Collado, Nuria; Solanes, Ingrid; Alfageme, Inmaculada; Casanova, Ciro

2016-01-01

Asthma-COPD overlap syndrome (ACOS) has been recently described by international guidelines. A stepwise approach to diagnosis using usual features of both diseases is recommended although its clinical application is difficult. To identify patients with ACOS, a cohort of well-characterized patients with COPD and up to 1 year of follow-up was analyzed. We evaluated the presence of specific characteristics associated with asthma in this COPD cohort, divided into major criteria (bronchodilator test > 400 mL and 15% and past medical history of asthma) and minor criteria (blood eosinophils > 5%, IgE > 100 IU/mL, or two separate bronchodilator tests > 200 mL and 12%). We defined ACOS by the presence of one major criterion or two minor criteria. Baseline characteristics, health status (COPD Assessment Test [CAT]), BMI, airflow obstruction, dyspnea, and exercise capacity (BODE) index, rate of exacerbations, and mortality up to 1 year of follow-up were compared between patients with and without criteria for ACOS. Of 831 patients with COPD included,125 (15%) fulfilled the criteria for ACOS, and 98.4% of them sustained these criteria after 1 year. Patients with ACOS were predominantly male (81.6%), with symptomatic mild to moderate disease (67%), who were receiving inhaled corticosteroids (63.2%). There were no significant differences in baseline characteristics, and only survival was worse in patients with non-ACOS COPD after 1 year of follow-up (P < .05). The proposed ACOS criteria are present in 15% of a cohort of patients with COPD and these patients show better 1-year prognosis than clinically similar patients with COPD with no ACOS criteria. ClinicalTrials.gov; No.: NCT01122758; URL: www.clinicaltrials.gov. Copyright © 2016 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

Clinical and atopic parameters and airway inflammatory markers in childhood asthma: a factor analysis

PubMed Central

Leung, T; Wong, G; Ko, F; Lam, C; Fok, T

2005-01-01

Background: Recent studies have repeatedly shown weak correlations among lung function parameters, atopy, exhaled nitric oxide level (FeNO), and airway inflammatory markers, suggesting that they are non-overlapping characteristics of asthma in adults. A study was undertaken to determine, using factor analysis, whether the above features represent separate dimensions of childhood asthma. Methods: Clinically stable asthmatic patients aged 7–18 years underwent spirometric testing, methacholine bronchial challenge, blood sampling for atopy markers and chemokine levels (macrophage derived chemokine (MDC), thymus and activation regulated chemokine (TARC), and eotaxin), FeNO, and chemokines (MDC and eotaxin) and leukotriene B4 measurements in exhaled breath condensate (EBC). Results: The mean (SD) forced expiratory volume in 1 second (FEV1) and FeNO of 92 patients were 92.1 (15.9)% predicted and 87.3 (65.7) ppb, respectively. 59% of patients received inhaled corticosteroids. Factor analysis selected four different factors, explaining 55.5% of total variance. The Kaiser-Meyer-Olkin measure of sampling adequacy was 0.587. Plasma total and specific IgE levels, peripheral blood eosinophil percentage, and FeNO loaded on factor 1; plasma TARC and MDC concentrations on factor 2; MDC, eotaxin and leukotriene B4 concentrations in EBC on factor 3; and plasma eotaxin concentration together with clinical indices including body mass index and disease severity score loaded on factor 4. Post hoc factor analyses revealed similar results when outliers were excluded. Conclusions: The results suggest that atopy related indices and airway inflammation are separate dimensions in the assessment of childhood asthma, and inflammatory markers in peripheral blood and EBC are non-overlapping factors of asthma. PMID:16055623

Allergic conjunctivitis and dry eye syndrome.

PubMed

Hom, Milton M; Nguyen, Andrew L; Bielory, Leonard

2012-03-01

Allergic conjunctivitis (AC) and dry eye syndrome (DES) are 2 of the most common anterior inflammatory disorders of the ocular surface and one does not preclude the coexistence of the other. To examine the potential overlap between AC and DES as comorbidities. Using the validated questionnaire known as Subjective Evaluation of Symptom of Dryness, we studied self-reported itchiness, dryness, and redness. In an outpatient optometric setting, 689 patients treated from January 1, 2007, to January 1, 2011, were surveyed for their ocular history and categorized according to their reported level of discomfort of itchiness, dryness, and redness. Patients ranged in age from 5 to 90 years (median age, 25 years; 39.5% male; 60.5% female). In the studied 689 patients, clinically significant itchiness was found in 194 (28.2%), dry eyes in 247 (35.8%), and redness in 194 (28.2%). Symptom overlap was demonstrated in many of the patients. Of the 194 patients with itchiness, 112 (57.7%) had clinically significant dryness. In the 247 patients with dry eyes, 112 (45.3%) had clinically significant itch. Redness was apparent in 120 of the 194 patients with itch (61.9%) and 122 of the 247 patients with dryness (49.4%). Statistical analysis demonstrated that self-reported itchiness, dryness, and redness were not independent of each other (P<.001; Pearson χ(2) test). The odds of patients with "itchy eyes" also experiencing dry eyes were 2.11 times and the odds of these patients also experiencing redness were 7.34 times that of patients with nonitchy eyes. Most patients with "itchy eyes" consistent with AC also have dry eyes and redness. These results suggest that some symptomatic patients concomitantly have features of AC and DES. Copyright © 2012 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

Derivative Analysis of Absorption Features in Hyperspectral Remote Sensing Data of Carbonate Sediments

DTIC Science & Technology

2002-12-30

reflectance of carbonate sediments and application to shallow water benthic habitat classification,” Doctoral Dissertation, University of Miami. Chap.3...resolve overlapping features. A primary application has been to analyze pigment and chemical composition of leaves in order to track physiological...final absorption feature was observed at 630 nm, in a region associated with the biliprotein, phycocyanin [16,17]. As biliproteins are water soluble

Identification of functional features of synthetic SINEUPs, antisense lncRNAs that specifically enhance protein translation

PubMed Central

Kozhuharova, Ana; Sharma, Harshita; Ohyama, Takako; Fasolo, Francesca; Yamazaki, Toshio; Cotella, Diego; Santoro, Claudio; Zucchelli, Silvia; Gustincich, Stefano; Carninci, Piero

2018-01-01

SINEUPs are antisense long noncoding RNAs, in which an embedded SINE B2 element UP-regulates translation of partially overlapping target sense mRNAs. SINEUPs contain two functional domains. First, the binding domain (BD) is located in the region antisense to the target, providing specific targeting to the overlapping mRNA. Second, the inverted SINE B2 represents the effector domain (ED) and enhances translation. To adapt SINEUP technology to a broader number of targets, we took advantage of a high-throughput, semi-automated imaging system to optimize synthetic SINEUP BD and ED design in HEK293T cell lines. Using SINEUP-GFP as a model SINEUP, we extensively screened variants of the BD to map features needed for optimal design. We found that most active SINEUPs overlap an AUG-Kozak sequence. Moreover, we report our screening of the inverted SINE B2 sequence to identify active sub-domains and map the length of the minimal active ED. Our synthetic SINEUP-GFP screening of both BDs and EDs constitutes a broad test with flexible applications to any target gene of interest. PMID:29414979

Spatial organization of astrocytes in ferret visual cortex.

PubMed

López-Hidalgo, Mónica; Hoover, Walter B; Schummers, James

2016-12-01

Astrocytes form an intricate partnership with neural circuits to influence numerous cellular and synaptic processes. One prominent organizational feature of astrocytes is the "tiling" of the brain with non-overlapping territories. There are some documented species and brain region-specific astrocyte specializations, but the extent of astrocyte diversity and circuit specificity are still unknown. We quantitatively defined the rules that govern the spatial arrangement of astrocyte somata and territory overlap in ferret visual cortex using a combination of in vivo two-photon imaging, morphological reconstruction, immunostaining, and model simulations. We found that ferret astrocytes share, on average, half of their territory with other astrocytes. However, a specific class of astrocytes, abundant in thalamo-recipient cortical layers ("kissing" astrocytes), overlap markedly less. Together, these results demonstrate novel features of astrocyte organization indicating that different classes of astrocytes are arranged in a circuit-specific manner and that tiling does not apply universally across brain regions and species. J. Comp. Neurol. 524:3561-3576, 2016. © 2016 The Authors The Journal of Comparative Neurology Published by Wiley Periodicals, Inc. © 2016 The Authors The Journal of Comparative Neurology Published by Wiley Periodicals, Inc.

Spatial organization of astrocytes in ferret visual cortex

PubMed Central

López‐Hidalgo, Mónica; Hoover, Walter B.

2016-01-01

ABSTRACT Astrocytes form an intricate partnership with neural circuits to influence numerous cellular and synaptic processes. One prominent organizational feature of astrocytes is the “tiling” of the brain with non‐overlapping territories. There are some documented species and brain region–specific astrocyte specializations, but the extent of astrocyte diversity and circuit specificity are still unknown. We quantitatively defined the rules that govern the spatial arrangement of astrocyte somata and territory overlap in ferret visual cortex using a combination of in vivo two‐photon imaging, morphological reconstruction, immunostaining, and model simulations. We found that ferret astrocytes share, on average, half of their territory with other astrocytes. However, a specific class of astrocytes, abundant in thalamo‐recipient cortical layers (“kissing” astrocytes), overlap markedly less. Together, these results demonstrate novel features of astrocyte organization indicating that different classes of astrocytes are arranged in a circuit‐specific manner and that tiling does not apply universally across brain regions and species. J. Comp. Neurol. 524:3561–3576, 2016. © 2016 The Authors The Journal of Comparative Neurology Published by Wiley Periodicals, Inc. PMID:27072916

Unblending Borderline Personality and Bipolar Disorders.

PubMed

di Giacomo, Ester; Aspesi, Flora; Fotiadou, Maria; Arntz, Arnoud; Aguglia, Eugenio; Barone, Lavinia; Bellino, Silvio; Carpiniello, Bernardo; Colmegna, Fabrizia; Lazzari, Marina; Lorettu, Liliana; Pinna, Federica; Sicaro, Aldo; Signorelli, Maria Salvina; Clerici, Massimo

2017-08-01

Borderline Personality (BPD) and Bipolar (BP) disorders stimulate an academic debate between their distinction and the inclusion of Borderline in the Bipolar spectrum. Opponents to this inclusion attribute the important differences and possible diagnostic incomprehension to overlapping symptoms. We tested 248 Borderline and 113 Bipolar patients, consecutively admitted to the Psychiatric Unit, through DSM-IV Axis I and II Disorders (SCID-I/II), Hamilton Depression Rating Scale (HAM-D), Hamilton Anxiety Rating Scale (HAM-A), Young Mania Rating Scale (YMRS) and Borderline Personality Disorder Severity Index-IV (BPDSI-IV). All the tests statistically discriminated the disorders (p < 0.0001). Overlapping symptoms resulted significantly different (impulsivity = 5.32 in BPD vs 1.55 in BP, p < 0.0001; emotional instability = 7.11 in BPD vs 0.55 in BP, p < 0.0001) and the range of their scores gives the opportunity for an even more precise discrimination. Distinctive traits (e.g. irritability or sexual arousal) are also discussed in order to try to qualify the core of these disorders to a higher degree. Comorbidity proves to be extremely small (3.6%). However, Borderline patients with manic features offer a privileged point of view for a deeper analysis. This allows for the possibility of a more precise examination of the nature and load of each symptom. Borderline Personality and Bipolar Disorders can be distinguished with high precision using common and time-sparing tests. The importance of discriminating these clinical features may benefit from this evidence. Copyright © 2017. Published by Elsevier Ltd.

Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.

PubMed

Kuroda, Yukiko; Ohashi, Ikuko; Saito, Toshiyuki; Nagai, Jun-ichi; Ida, Kazumi; Naruto, Takuya; Iai, Mizue; Kurosawa, Kenji

2014-08-01

Kuechler et al. [2011] reported five patients with interstitial deletions in 8q22.2-q22.3 who had intellectual disability, epilepsy, and dysmorphic features. We report on a new patient with the smallest overlapping de novo deletion in 8q22.3 and refined the phenotype. The proposita was an 8-year-old girl, who developed seizures at 10 months, and her epileptic seizure became severe and difficult to control with antiepileptic drugs. She also exhibited developmental delay and walked alone at 24 months. She was referred to us for evaluation for developmental delay and epilepsy at the age of 8 years. She had intellectual disability (IQ 37 at 7 years) and autistic behavior, and spoke two word sentences at 8 years. She had mild dysmorphic features, including telecanthus and thick vermilion of the lips. Array comparative genomic hybridization detected a 1.36 Mb deletion in 8q22.3 that encompassed RRM2B and NCALD, which encode the small subunit of p53-inducible ribonucleotide reductase and neurocalcin delta in the neuronal calcium sensor family of calcium-binding proteins, respectively. The minimum overlapping region between the present and previously reported patients is considered to be a critical region for the phenotype of the deletion in 8q22.3. We suggest that the deletion in 8q22.3 may represent a clinically recognizable condition, which is characterized by intellectual disability and epilepsy. © 2014 Wiley Periodicals, Inc.

Non-specific filtering of beta-distributed data.

PubMed

Wang, Xinhui; Laird, Peter W; Hinoue, Toshinori; Groshen, Susan; Siegmund, Kimberly D

2014-06-19

Non-specific feature selection is a dimension reduction procedure performed prior to cluster analysis of high dimensional molecular data. Not all measured features are expected to show biological variation, so only the most varying are selected for analysis. In DNA methylation studies, DNA methylation is measured as a proportion, bounded between 0 and 1, with variance a function of the mean. Filtering on standard deviation biases the selection of probes to those with mean values near 0.5. We explore the effect this has on clustering, and develop alternate filter methods that utilize a variance stabilizing transformation for Beta distributed data and do not share this bias. We compared results for 11 different non-specific filters on eight Infinium HumanMethylation data sets, selected to span a variety of biological conditions. We found that for data sets having a small fraction of samples showing abnormal methylation of a subset of normally unmethylated CpGs, a characteristic of the CpG island methylator phenotype in cancer, a novel filter statistic that utilized a variance-stabilizing transformation for Beta distributed data outperformed the common filter of using standard deviation of the DNA methylation proportion, or its log-transformed M-value, in its ability to detect the cancer subtype in a cluster analysis. However, the standard deviation filter always performed among the best for distinguishing subgroups of normal tissue. The novel filter and standard deviation filter tended to favour features in different genome contexts; for the same data set, the novel filter always selected more features from CpG island promoters and the standard deviation filter always selected more features from non-CpG island intergenic regions. Interestingly, despite selecting largely non-overlapping sets of features, the two filters did find sample subsets that overlapped for some real data sets. We found two different filter statistics that tended to prioritize features with different characteristics, each performed well for identifying clusters of cancer and non-cancer tissue, and identifying a cancer CpG island hypermethylation phenotype. Since cluster analysis is for discovery, we would suggest trying both filters on any new data sets, evaluating the overlap of features selected and clusters discovered.

The inferior impact of antibody-mediated rejection on the clinical outcome of kidney allografts that develop de novo thrombotic microangiopathy.

PubMed

Wu, Kaiyin; Budde, Klemens; Schmidt, Danilo; Neumayer, Hans-Hellmut; Lehner, Lukas; Bamoulid, Jamal; Rudolph, Birgit

2016-02-01

Antibody-mediated rejection (AMR) can induce and develop thrombotic microangiopathy (TMA) in renal allografts. A definitive AMR (dAMR) co-presents three diagnostic features. A suspicious AMR (sAMR) is designated when one of the three features is missing. Thirty-two TMA cases overlapping with AMR (AMR+ TMA) were studied, which involved 14 cases of sAMR+ TMA and 18 cases of dAMR+ TMA. Thirty TMA cases free of AMR features (AMR- TMA) were enrolled as control group. The ratio of complete response to treatment was similar between AMR- TMA and AMR+ TMA group (23.3% vs. 12.5%, p = 0.33), or between sAMR+ TMA and dAMR+ TMA group (14.3% vs. 11.1%, p = 0.79). At eight yr post-transplantation, the death-censored graft survival (DCGS) rate of AMR- TMA group was 62.8%, which was significantly higher than 28.0% of AMR+ TMA group (p = 0.01), but similar between sAMR+ TMA and dAMR+ TMA group (30.0% vs. 26.7%, p = 0.92). Overall, the intimal arteritis and the broad HLA (Human leukocyte antigens) mismatches were closely associated with over time renal allograft failure. The AMR+ TMA has inferior long-term graft survival, but grafts with sAMR+ TMA or dAMR+ TMA have similar characteristics and clinical courses. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Systematic Review and Meta-Analysis of CT Features for Differentiating Complicated and Uncomplicated Appendicitis.

PubMed

Kim, Hae Young; Park, Ji Hoon; Lee, Yoon Jin; Lee, Sung Soo; Jeon, Jong-June; Lee, Kyoung Ho

2018-04-01

Purpose To perform a systematic review and meta-analysis to identify computed tomographic (CT) features for differentiating complicated appendicitis in patients suspected of having appendicitis and to summarize their diagnostic accuracy. Materials and Methods Studies on diagnostic accuracy of CT features for differentiating complicated appendicitis (perforated or gangrenous appendicitis) in patients suspected of having appendicitis were searched in Ovid-MEDLINE, EMBASE, and the Cochrane Library. Overlapping descriptors used in different studies to denote the same image finding were subsumed under a single CT feature. Pooled diagnostic accuracy of the CT features was calculated by using a bivariate random effects model. CT features with pooled diagnostic odds ratios with 95% confidence intervals not including 1 were considered as informative. Results Twenty-three studies were included, and 184 overlapping descriptors for various CT findings were subsumed under 14 features. Of these, 10 features were informative for complicated appendicitis. There was a general tendency for these features to show relatively high specificity but low sensitivity. Extraluminal appendicolith, abscess, appendiceal wall enhancement defect, extraluminal air, ileus, periappendiceal fluid collection, ascites, intraluminal air, and intraluminal appendicolith showed pooled specificity greater than 70% (range, 74%-100%), but sensitivity was limited (range, 14%-59%). Periappendiceal fat stranding was the only feature that showed high sensitivity (94%; 95% confidence interval: 86%, 98%) but low specificity (40%; 95% confidence interval, 23%, 60%). Conclusion Ten informative CT features for differentiating complicated appendicitis were identified in this study, nine of which showed high specificity, but low sensitivity. © RSNA, 2017 Online supplemental material is available for this article.

Overlapping bio-absorbable scaffolds: Aim for D2D technique?

PubMed

Khan, Asaad A; Dangas, George D

2018-06-01

The results of overlapping metallic stents have been concerning but this practice is often unavoidable in the setting of long or tortuous lesions, diameter discrepancy of proximal and distal vessel, and for residual dissections. Theoretically, bio-absorbable scaffolds may carry an advantage over metallic stents due to the progressive resorption of the scaffold theoretically rendering the overlap a non-issue; this has not been clinically evident. Since stent/scaffold overlap cannot be entirely avoided, improved stent delivery/deployment and scaffold design modification may reduce complications in this complex patient subset. © 2018 Wiley Periodicals, Inc.

Diagnosis of B-Cell Non-Hodgkin Lymphomas with Small-/Intermediate-Sized Cells in Cytopathology

PubMed Central

Schwock, Joerg; Geddie, William R.

2012-01-01

Fine needle sampling is a fast, safe, and potentially cost-effective method of obtaining tissue for cytomorphologic assessment aimed at both initial triage and, in some cases, complete diagnosis of patients that present clinically with lymphadenopathy. The cytologic diagnosis of B-cell non-Hodgkin lymphomas composed of small-/intermediate-sized cells, however, has been seen as an area of great difficulty even for experienced observers due to the morphologic overlap between lymphoma and reactive lymphadenopathies as well as between the lymphoma entities themselves. Although ancillary testing has improved diagnostic accuracy, the results from these tests must be interpreted within the morphological and clinical context to avoid misinterpretation. Importantly, the recognition of specific cytologic features is crucial in guiding the appropriate selection of ancillary tests which will either confirm or refute a tentative diagnosis. For these reasons, we here review the cytologic characteristics particular to five common B-cell non-Hodgkin lymphomas which typically cause the most diagnostic confusion based on cytological assessment alone: marginal zone lymphoma, follicular lymphoma, mantle cell lymphoma, chronic lymphocytic leukemia/small lymphocytic lymphoma, and lymphoplasmacytic lymphoma. We summarize the most pertinent cytomorphologic features for each entity as well as for reactive lymphoid hyperplasia, contrast them with each other to facilitate their recognition, and highlight common diagnostic pitfalls. PMID:22693682

Clinical report of a 17q12 microdeletion with additionally unreported clinical features.

PubMed

Roberts, Jennifer L; Gandomi, Stephanie K; Parra, Melissa; Lu, Ira; Gau, Chia-Ling; Dasouki, Majed; Butler, Merlin G

2014-01-01

Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, autism spectrum disorder, intellectual disability, and psychiatric manifestations including physical and verbal aggression, obsessive-compulsive behaviors, and oppositional defiance. An echocardiogram showed borderline increased aortic root size. An abdominal ultrasound revealed a small pancreas, mild splenomegaly with a 1.3 cm accessory splenule, and normal kidneys and liver. A testing panel for Marfan, aneurysm, and related disorders was negative. Subsequently, a 400 K array-based comparative genomic hybridization (aCGH) + SNP analysis was performed which identified a de novo suspected pathogenic deletion on chromosome 17q12 encompassing 28 genes. Despite the limited number of cases described in the literature with 17q12 rearrangements, our proband's phenotypic features both overlap and expand on previously reported cases. Since syndrome-specific DNA sequencing studies failed to provide an explanation for this patient's unusual habitus, we postulate that this case represents an expansion of the 17q12 microdeletion phenotype. Further analysis of the deleted interval is recommended for new genotype-phenotype correlations.

A system for counting fetal and maternal red blood cells.

PubMed

Ge, Ji; Gong, Zheng; Chen, Jun; Liu, Jun; Nguyen, John; Yang, Zongyi; Wang, Chen; Sun, Yu

2014-12-01

The Kleihauer-Betke (KB) test is the standard method for quantitating fetal-maternal hemorrhage in maternal care. In hospitals, the KB test is performed by a certified technologist to count a minimum of 2000 fetal and maternal red blood cells (RBCs) on a blood smear. Manual counting suffers from inherent inconsistency and unreliability. This paper describes a system for automated counting and distinguishing fetal and maternal RBCs on clinical KB slides. A custom-adapted hardware platform is used for KB slide scanning and image capturing. Spatial-color pixel classification with spectral clustering is proposed to separate overlapping cells. Optimal clustering number and total cell number are obtained through maximizing cluster validity index. To accurately identify fetal RBCs from maternal RBCs, multiple features including cell size, roundness, gradient, and saturation difference between cell and whole slide are used in supervised learning to generate feature vectors, to tackle cell color, shape, and contrast variations across clinical KB slides. The results show that the automated system is capable of completing the counting of over 60,000 cells (versus ∼2000 by technologists) within 5 min (versus ∼15 min by technologists). The throughput is improved by approximately 90 times compared to manual reading by technologists. The counting results are highly accurate and correlate strongly with those from benchmarking flow cytometry measurement.

Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

PubMed Central

Hernandez-Quiceno, Sara

2017-01-01

Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T). This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders. PMID:28255305

Clinical characteristics and outcome of pneumothorax after stereotactic body radiotherapy for lung tumors.

PubMed

Asai, Kaori; Nakamura, Katsumasa; Shioyama, Yoshiyuki; Sasaki, Tomonari; Matsuo, Yoshio; Ohga, Saiji; Yoshitake, Tadamasa; Terashima, Kotaro; Shinoto, Makoto; Matsumoto, Keiji; Hirata, Hidenari; Honda, Hiroshi

2015-12-01

We retrospectively investigated the clinical characteristics and outcome of pneumothorax after stereotactic body radiotherapy (SBRT) for lung tumors. Between April 2003 and July 2012, 473 patients with lung tumors were treated with SBRT. We identified 12 patients (2.5 %) with pneumothorax caused by SBRT, and evaluated the clinical features of pneumothorax. All of the tumors were primary lung cancers. The severity of radiation pneumonitis was grade 1 in 10 patients and grade 2 in two patients. Nine patients had emphysema. The planning target volume and pleura overlapped in 11 patients, and the tumors were attached to the pleura in 7 patients. Rib fractures were observed in three patients before or at the same time as the diagnosis of pneumothorax. The median time to onset of pneumothorax after SBRT was 18.5 months (4-84 months). The severity of pneumothorax was grade 1 in 11 patients and grade 3 in one patient. Although pneumothorax was a relatively rare late adverse effect after SBRT, some patients demonstrated pneumothorax after SBRT for peripheral lung tumors. Although most pneumothorax was generally tolerable and self-limiting, careful follow-up is needed.

The value of fine needle aspiration cytology in the clinical management of rare salivary gland tumors

PubMed Central

Mezei, Tibor; Mocan, Simona; Ormenisan, Alina; Baróti, Beáta; Iacob, Alina

2018-01-01

Abstract Salivary gland tumors are relatively rare neoplasms, mostly located in the parotid gland, and few are malignant. Preoperative evaluation of salivary gland tumors includes fine needle aspiration cytology (FNAC). Objective The purpose of this study was to determine the importance of FNAC in the evaluation of rare salivary gland neoplasms. Material and Methods Four cases of rare salivary gland tumors were included, which were preoperatively assessed by clinical investigation, computed tomography, and FNAC. Results The presented cases include myoepithelial carcinoma, oncocytic carcinoma, undifferentiated lymphoepithelial carcinoma, and marginal zone lymphoma. Conclusion FNAC is a reliable diagnostic tool for common salivary gland neoplasms; however, rare tumors often represent diagnostic challenges. Clinical relevance In such rare tumors, the role of aspiration cytology may be limited to establishing the dignity of the lesion (benign/malignant). This knowledge enables the surgeon to choose the most appropriate therapeutic procedure. A definitive diagnosis of rare tumors (either epithelial or nonepithelial) is obtained by histological examination; cytology is limited in this regard due to overlapping features. PMID:29489937

Clinical and demographic overlaps among immunologically mediated oral diseases: a challenge for clinicians.

PubMed

do Carmo, Maria Auxiliadora Vieira; Gleber-Netto, Frederico Omar; Romano, Maria Luisa de Freitas; Caldeira, Patricia Carlos; de Aguiar, Maria Cassia Ferreira

2014-01-01

This study sought to assess and compare retrospective demographic and clinical data of oral lesions of lichen planus, pemphigus vulgaris, and mucous membrane pemphigoid from the records of the Department of Oral Pathology and Surgery, School of Dentistry, Universidade Federal de Minas Gerais, Brazil, covering a period of 55 years. Out of 25,435 specimens, these immunologically-mediated diseases accounted for 301 (1.18%) cases, of which 250 (0.98%) were lichen planus, 27 (0.11%) were pemphigus vulgaris, and 24 (0.09%) were mucous membrane pemphigoid. Lichen planus presented mainly as white asymptomatic plaques on buccal mucosa. Pemphigus vulgaris was usually characterized by multiple symptomatic erithematous ulcers on the buccal mucosa. Painful ulcers and/or blisters on the gingiva were the most common presentation for mucous membrane pemphigoid. Desquamative gingivitis was noted for all 3 diseases, but mainly for mucous membrane pemphigoid. Overall, lesions were more frequent in white women >50 years. Oral manifestations of immunologically-mediated diseases are relatively rare, and the correct diagnosis can be a challenge for dentists as the lesions often share similar clinical and demographic features.

Revisiting DLB Diagnosis: A Consideration of Prodromal DLB and of the Diagnostic Overlap With Alzheimer Disease.

PubMed

McKeith, Ian; Taylor, John-Paul; Thomas, Alan; Donaghy, Paul; Kane, Joseph

2016-09-01

Efforts to clinically diagnose cases having dementia with Lewy bodies (DLB) identify those with a characteristic clinical syndrome (probable DLB) at the expense of missing an equal, if not greater, number of cases who have atypical presentations thought to be associated with coexisting Alzheimer pathologies. This article argues that further efforts should now be made to characterize this atypical group that constitutes cases previously identified postmortem as the Lewy body variant of Alzheimer disease (AD) or as AD with Lewy bodies. Since such fine distinction is unlikely to be achieved on clinical grounds alone, this new diagnostic category will require robust biomarker validation. Turning to a consideration of early/prodromal diagnosis of both typical and atypical DLB cases, it is suggested that there will be at least 3 prototypical forms-a mild cognitive impairment variant, associated with early visuoperceptual and attentional deficits; a delirium onset DLB with provoked or spontaneous delirium as the presenting features; and a psychiatric disorder DLB with its primary presentation as a late-onset affective disorder or psychosis. © The Author(s) 2016.

ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social communication difficulties.

PubMed

St Pourcain, B; Robinson, E B; Anttila, V; Sullivan, B B; Maller, J; Golding, J; Skuse, D; Ring, S; Evans, D M; Zammit, S; Fisher, S E; Neale, B M; Anney, R J L; Ripke, S; Hollegaard, M V; Werge, T; Ronald, A; Grove, J; Hougaard, D M; Børglum, A D; Mortensen, P B; Daly, M J; Davey Smith, G

2018-02-01

Difficulties in social communication are part of the phenotypic overlap between autism spectrum disorders (ASD) and schizophrenia. Both conditions follow, however, distinct developmental patterns. Symptoms of ASD typically occur during early childhood, whereas most symptoms characteristic of schizophrenia do not appear before early adulthood. We investigated whether overlap in common genetic influences between these clinical conditions and impairments in social communication depends on the developmental stage of the assessed trait. Social communication difficulties were measured in typically-developing youth (Avon Longitudinal Study of Parents and Children, N⩽5553, longitudinal assessments at 8, 11, 14 and 17 years) using the Social Communication Disorder Checklist. Data on clinical ASD (PGC-ASD: 5305 cases, 5305 pseudo-controls; iPSYCH-ASD: 7783 cases, 11 359 controls) and schizophrenia (PGC-SCZ2: 34 241 cases, 45 604 controls, 1235 trios) were either obtained through the Psychiatric Genomics Consortium (PGC) or the Danish iPSYCH project. Overlap in genetic influences between ASD and social communication difficulties during development decreased with age, both in the PGC-ASD and the iPSYCH-ASD sample. Genetic overlap between schizophrenia and social communication difficulties, by contrast, persisted across age, as observed within two independent PGC-SCZ2 subsamples, and showed an increase in magnitude for traits assessed during later adolescence. ASD- and schizophrenia-related polygenic effects were unrelated to each other and changes in trait-disorder links reflect the heterogeneity of genetic factors influencing social communication difficulties during childhood versus later adolescence. Thus, both clinical ASD and schizophrenia share some genetic influences with impairments in social communication, but reveal distinct developmental profiles in their genetic links, consistent with the onset of clinical symptoms.

SU-F-R-07: Radiomics of CT Features and Associations and Correlation with Outcomes Following Lung SBRT

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

Schreibmann, E; Iwinski Sutter, A; Whitaker, D

Objective: To investigate the prognostic significance of image gradients and in predicting clinical outcomes in a patients with non-small cell lung cancer treated with stereotactic body radiotherapy (SBRT) on 71 patients with 83 treated lesions. Methods: The records of patients treated with lung SBRT were retrospectively reviewed. When applicable, SBRT target volumes were modified to exclude any overlap with pleura, chestwall, or mediastinum. The ITK software package was utilized to generate quantitative measures of image intensity, inhomogeneity, shape morphology and first and second-order CT textures. Multivariate and univariate models containing CT features were generated to assess associations with clinicopathologic factors.more » Results: On univariate analysis, tumor size (HR 0.54, p=0.045) sumHU (HR 0.31, p=0.044) and short run grey level emphasis STD (HR 0.22, p=0.019) were associated with regional failure-free survival; meanHU (HR 0.30, p=0.035), long run emphasis (HR 0.21, p=0.011) and long run low grey level emphasis (HR 0.14, p=0.005) was associated with distant failure-free survival (DFFS). No features were significant on multivariate modeling however long run low grey level emphasis had a hazard ratio of 0.12 (p=0.061) for DFFS. Adenocarcinoma and squamous cell carcinoma differed with respect to long run emphasis STD (p=0.024), short run low grey level emphasis STD (p<0.001), and long run low grey level emphasis STD (p=0.024). Multivariate modeling of texture features associated with tumor histology was used to estimate histologies of 18 lesions treated without histologic confirmation. Of these, MVA suggested the same histology as a prior metachronous lung malignancy in 3/7 patients. Conclusion: Extracting radiomics features on clinical datasets was feasible with the ITK package with minimal effort to identify pre-treatment quantitative CT features with prognostic factors for distant control after lung SBRT.« less

Detection of communities with Naming Game-based methods

PubMed Central

Ribeiro, Carlos Henrique Costa

2017-01-01

Complex networks are often organized in groups or communities of agents that share the same features and/or functions, and this structural organization is built naturally with the formation of the system. In social networks, we argue that the dynamic of linguistic interactions of agreement among people can be a crucial factor in generating this community structure, given that sharing opinions with another person bounds them together, and disagreeing constantly would probably weaken the relationship. We present here a computational model of opinion exchange that uncovers the community structure of a network. Our aim is not to present a new community detection method proper, but to show how a model of social communication dynamics can reveal the (simple and overlapping) community structure in an emergent way. Our model is based on a standard Naming Game, but takes into consideration three social features: trust, uncertainty and opinion preference, that are built over time as agents communicate among themselves. We show that the separate addition of each social feature in the Naming Game results in gradual improvements with respect to community detection. In addition, the resulting uncertainty and trust values classify nodes and edges according to role and position in the network. Also, our model has shown a degree of accuracy both for non-overlapping and overlapping communities that are comparable with most algorithms specifically designed for topological community detection. PMID:28797097

Text de-identification for privacy protection: a study of its impact on clinical text information content.

PubMed

Meystre, Stéphane M; Ferrández, Óscar; Friedlin, F Jeffrey; South, Brett R; Shen, Shuying; Samore, Matthew H

2014-08-01

As more and more electronic clinical information is becoming easier to access for secondary uses such as clinical research, approaches that enable faster and more collaborative research while protecting patient privacy and confidentiality are becoming more important. Clinical text de-identification offers such advantages but is typically a tedious manual process. Automated Natural Language Processing (NLP) methods can alleviate this process, but their impact on subsequent uses of the automatically de-identified clinical narratives has only barely been investigated. In the context of a larger project to develop and investigate automated text de-identification for Veterans Health Administration (VHA) clinical notes, we studied the impact of automated text de-identification on clinical information in a stepwise manner. Our approach started with a high-level assessment of clinical notes informativeness and formatting, and ended with a detailed study of the overlap of select clinical information types and Protected Health Information (PHI). To investigate the informativeness (i.e., document type information, select clinical data types, and interpretation or conclusion) of VHA clinical notes, we used five different existing text de-identification systems. The informativeness was only minimally altered by these systems while formatting was only modified by one system. To examine the impact of de-identification on clinical information extraction, we compared counts of SNOMED-CT concepts found by an open source information extraction application in the original (i.e., not de-identified) version of a corpus of VHA clinical notes, and in the same corpus after de-identification. Only about 1.2-3% less SNOMED-CT concepts were found in de-identified versions of our corpus, and many of these concepts were PHI that was erroneously identified as clinical information. To study this impact in more details and assess how generalizable our findings were, we examined the overlap between select clinical information annotated in the 2010 i2b2 NLP challenge corpus and automatic PHI annotations from our best-of-breed VHA clinical text de-identification system (nicknamed 'BoB'). Overall, only 0.81% of the clinical information exactly overlapped with PHI, and 1.78% partly overlapped. We conclude that automated text de-identification's impact on clinical information is small, but not negligible, and that improved clinical acronyms and eponyms disambiguation could significantly reduce this impact. Copyright © 2014 Elsevier Inc. All rights reserved.

Overlapping Chronic Pain Conditions: Implications for Diagnosis and Classification.

PubMed

Maixner, William; Fillingim, Roger B; Williams, David A; Smith, Shad B; Slade, Gary D

2016-09-01

There is increasing recognition that many if not most common chronic pain conditions are heterogeneous with a high degree of overlap or coprevalence of other common pain conditions along with influences from biopsychosocial factors. At present, very little attention is given to the high degree of overlap of many common pain conditions when recruiting for clinical trials. As such, many if not most patients enrolled into clinical studies are not representative of most chronic pain patients. The failure to account for the heterogeneous and overlapping nature of most common pain conditions may result in treatment responses of small effect size when these treatments are administered to patients with chronic overlapping pain conditions (COPCs) represented in the general population. In this brief review we describe the concept of COPCs and the putative mechanisms underlying COPCs. Finally, we present a series of recommendations that will advance our understanding of COPCs. This brief review describes the concept of COPCs. A mechanism-based heuristic model is presented and current knowledge and evidence for COPCs are presented. Finally, a set of recommendations is provided to advance our understanding of COPCs. Copyright © 2016 American Pain Society. Published by Elsevier Inc. All rights reserved.

Automated lung sound analysis for detecting pulmonary abnormalities.

PubMed

Datta, Shreyasi; Dutta Choudhury, Anirban; Deshpande, Parijat; Bhattacharya, Sakyajit; Pal, Arpan

2017-07-01

Identification of pulmonary diseases comprises of accurate auscultation as well as elaborate and expensive pulmonary function tests. Prior arts have shown that pulmonary diseases lead to abnormal lung sounds such as wheezes and crackles. This paper introduces novel spectral and spectrogram features, which are further refined by Maximal Information Coefficient, leading to the classification of healthy and abnormal lung sounds. A balanced lung sound dataset, consisting of publicly available data and data collected with a low-cost in-house digital stethoscope are used. The performance of the classifier is validated over several randomly selected non-overlapping training and validation samples and tested on separate subjects for two separate test cases: (a) overlapping and (b) non-overlapping data sources in training and testing. The results reveal that the proposed method sustains an accuracy of 80% even for non-overlapping data sources in training and testing.

Fetal phenotypes in otopalatodigital spectrum disorders.

PubMed

Naudion, S; Moutton, S; Coupry, I; Sole, G; Deforges, J; Guerineau, E; Hubert, C; Deves, S; Pilliod, J; Rooryck, C; Abel, C; Le Breton, F; Collardeau-Frachon, S; Cordier, M P; Delezoide, A L; Goldenberg, A; Loget, P; Melki, J; Odent, S; Patrier, S; Verloes, A; Viot, G; Blesson, S; Bessières, B; Lacombe, D; Arveiler, B; Goizet, C; Fergelot, P

2016-03-01

Otopalatodigital spectrum disorders (OPDSD) include OPD syndromes types 1 and type 2 (OPD1, OPD2), Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). These conditions are clinically characterized by variable skeletal dysplasia associated in males, with extra-skeletal features including brain malformations, cleft palate, cardiac anomalies, omphalocele and obstructive uropathy. Mutations in the FLNA gene have been reported in most FMD and OPD2 cases and in all instances of typical OPD1 and MNS. Here, we report a series of 10 fetuses and a neonatally deceased newborn displaying a multiple congenital anomalies syndrome suggestive of OPDSD and in whom we performed FLNA analysis. We found a global mutation rate of 44%. This series allows expanding the clinical and FLNA mutational spectrum in OPDSD. However, we emphasize difficulties to correctly discriminate OPDSD based on clinical criteria in fetuses due to the major overlap between these conditions. Molecular analyses may help pathologists to refine clinical diagnosis according to the type and the location of FLNA mutations. Discriminating the type of OPDSD is of importance in order to improve the genetic counseling to provide to families. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

The Soil Microbiota Harbors a Diversity of Carbapenem-Hydrolyzing β-Lactamases of Potential Clinical Relevance.

PubMed

Gudeta, Dereje Dadi; Bortolaia, Valeria; Amos, Greg; Wellington, Elizabeth M H; Brandt, Kristian K; Poirel, Laurent; Nielsen, Jesper Boye; Westh, Henrik; Guardabassi, Luca

2016-01-01

The origin of carbapenem-hydrolyzing metallo-β-lactamases (MBLs) acquired by clinical bacteria is largely unknown. We investigated the frequency, host range, diversity, and functionality of MBLs in the soil microbiota. Twenty-five soil samples of different types and geographical origins were analyzed by antimicrobial selective culture, followed by phenotypic testing and expression of MBL-encoding genes in Escherichia coli, and whole-genome sequencing of MBL-producing strains was performed. Carbapenemase activity was detected in 29 bacterial isolates from 13 soil samples, leading to identification of seven new MBLs in presumptive Pedobacter roseus (PEDO-1), Pedobacter borealis (PEDO-2), Pedobacter kyungheensis (PEDO-3), Chryseobacterium piscium (CPS-1), Epilithonimonas tenax (ESP-1), Massilia oculi (MSI-1), and Sphingomonas sp. (SPG-1). Carbapenemase production was likely an intrinsic feature in Chryseobacterium and Epilithonimonas, as it occurred in reference strains of different species within these genera. The amino acid identity to MBLs described in clinical bacteria ranged between 40 and 69%. Remarkable features of the new MBLs included prophage integration of the encoding gene (PEDO-1), an unusual amino acid residue at a key position for MBL structure and catalysis (CPS-1), and overlap with a putative OXA β-lactamase (MSI-1). Heterologous expression of PEDO-1, CPS-1, and ESP-1in E. coli significantly increased the MICs of ampicillin, ceftazidime, cefpodoxime, cefoxitin, and meropenem. Our study shows that MBL producers are widespread in soil and include four genera that were previously not known to produce MBLs. The MBLs produced by these bacteria are distantly related to MBLs identified in clinical samples but constitute resistance determinants of clinical relevance if acquired by pathogenic bacteria. Copyright © 2015, American Society for Microbiology. All Rights Reserved.

The Soil Microbiota Harbors a Diversity of Carbapenem-Hydrolyzing β-Lactamases of Potential Clinical Relevance

PubMed Central

Gudeta, Dereje Dadi; Bortolaia, Valeria; Amos, Greg; Wellington, Elizabeth M. H.; Brandt, Kristian K.; Poirel, Laurent; Nielsen, Jesper Boye; Westh, Henrik

2015-01-01

The origin of carbapenem-hydrolyzing metallo-β-lactamases (MBLs) acquired by clinical bacteria is largely unknown. We investigated the frequency, host range, diversity, and functionality of MBLs in the soil microbiota. Twenty-five soil samples of different types and geographical origins were analyzed by antimicrobial selective culture, followed by phenotypic testing and expression of MBL-encoding genes in Escherichia coli, and whole-genome sequencing of MBL-producing strains was performed. Carbapenemase activity was detected in 29 bacterial isolates from 13 soil samples, leading to identification of seven new MBLs in presumptive Pedobacter roseus (PEDO-1), Pedobacter borealis (PEDO-2), Pedobacter kyungheensis (PEDO-3), Chryseobacterium piscium (CPS-1), Epilithonimonas tenax (ESP-1), Massilia oculi (MSI-1), and Sphingomonas sp. (SPG-1). Carbapenemase production was likely an intrinsic feature in Chryseobacterium and Epilithonimonas, as it occurred in reference strains of different species within these genera. The amino acid identity to MBLs described in clinical bacteria ranged between 40 and 69%. Remarkable features of the new MBLs included prophage integration of the encoding gene (PEDO-1), an unusual amino acid residue at a key position for MBL structure and catalysis (CPS-1), and overlap with a putative OXA β-lactamase (MSI-1). Heterologous expression of PEDO-1, CPS-1, and ESP-1in E. coli significantly increased the MICs of ampicillin, ceftazidime, cefpodoxime, cefoxitin, and meropenem. Our study shows that MBL producers are widespread in soil and include four genera that were previously not known to produce MBLs. The MBLs produced by these bacteria are distantly related to MBLs identified in clinical samples but constitute resistance determinants of clinical relevance if acquired by pathogenic bacteria. PMID:26482314

Prenatal diagnosis of a fetus with unbalanced translocation (4;13)(p16;q32) with overlapping features of Patau and Wolf-Hirschhorn syndromes.

PubMed

Tapper, Jill K; Zhang, Shuliu; Harirah, Hassan M; Panova, Neli I; Merryman, Linda S; Hawkins, Judy C; Lockhart, Lillian H; Gei, Alfredo B; Velagaleti, Gopalrao V N

2002-01-01

Wolf-Hirschhorn syndrome (WHS) and Patau syndrome are two of the most severe conditions resulting from chromosome abnormalities. WHS is caused by a deletion of 4p16, while Patau syndrome is caused by trisomy for some or all regions of chromosome 13. Though the etiologies of these syndromes differ, they share several features including pre- and postnatal growth retardation, microcephaly, cleft lip and palate, and cardiac anomalies. We present here a female fetus with deletion of 4p16 --> pter and duplication of 13q32 --> qter due to unbalanced segregation of t(4;13)(p16;q32) in the father. She displayed overlapping features of both of these syndromes on ultrasound. To the best of our knowledge, this is the first report of a fetus with both partial trisomy 13 and deletion of 4p16, the critical region for WHS. Copyright 2002 S. Karger AG, Basel

On the Automaticity of the Evaluative Priming Effect in the Valent/Non-Valent Categorization Task

PubMed Central

Spruyt, Adriaan; Tibboel, Helen

2015-01-01

It has previously been argued (a) that automatic evaluative stimulus processing is critically dependent upon feature-specific attention allocation and (b) that evaluative priming effects can arise in the absence of dimensional overlap between the prime set and the response set. In line with both claims, research conducted at our lab revealed that the evaluative priming effect replicates in the valent/non-valent categorization task. This research was criticized, however, because non-automatic, strategic processes may have contributed to the emergence of this effect. We now report the results of a replication study in which the operation of non-automatic, strategic processes was controlled for. A clear-cut evaluative priming effect emerged, thus supporting initial claims concerning feature-specific attention allocation and dimensional overlap. PMID:25803444

On the automaticity of the evaluative priming effect in the valent/non-valent categorization task.

PubMed

Spruyt, Adriaan; Tibboel, Helen

2015-01-01

It has previously been argued (a) that automatic evaluative stimulus processing is critically dependent upon feature-specific attention allocation and (b) that evaluative priming effects can arise in the absence of dimensional overlap between the prime set and the response set. In line with both claims, research conducted at our lab revealed that the evaluative priming effect replicates in the valent/non-valent categorization task. This research was criticized, however, because non-automatic, strategic processes may have contributed to the emergence of this effect. We now report the results of a replication study in which the operation of non-automatic, strategic processes was controlled for. A clear-cut evaluative priming effect emerged, thus supporting initial claims concerning feature-specific attention allocation and dimensional overlap.

Lexical Processing in Toddlers with ASD: Does Weak Central Coherence Play a Role?

PubMed Central

Weismer, Susan Ellis; Haebig, Eileen; Edwards, Jan; Saffran, Jenny; Venker, Courtney E.

2016-01-01

This study investigated whether vocabulary delays in toddlers with autism spectrum disorders (ASD) can be explained by a cognitive style that prioritizes processing of detailed, local features of input over global contextual integration – as claimed by the weak central coherence (WCC) theory. Thirty toddlers with ASD and 30 younger, cognition-matched typical controls participated in a looking-while-listening task that assessed whether perceptual or semantic similarities among named images disrupted word recognition relative to a neutral condition. Overlap of perceptual features invited local processing whereas semantic overlap invited global processing. With the possible exception of a subset of toddlers who had very low vocabulary skills, these results provide no evidence that WCC is characteristic of lexical processing in toddlers with ASD. PMID:27696177

Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.

PubMed

Morlino, Silvia; Dordoni, Chiara; Sperduti, Isabella; Venturini, Marina; Celletti, Claudia; Camerota, Filippo; Colombi, Marina; Castori, Marco

2017-04-01

Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two overlapping heritable disorders (JHS/EDS-HT) recognized by separated sets of diagnostic criteria and still lack a confirmatory test. This descriptive research was aimed at better characterizing the clinical phenotype of JHS/EDS-HT with focus on available diagnostic criteria, and in order to propose novel features and assessment strategies. One hundred and eighty-nine (163 females, 26 males; age: 2-73 years) patients from two Italian reference centers were investigated for Beighton score, range of motion in 21 additional joints, rate and sites of dislocations and sprains, recurrent soft-tissue injuries, tendon and muscle ruptures, body mass index, arm span/height ratio, wrist and thumb signs, and 12 additional orthopedic features. Rough rates were compared by age, sex, and handedness with a series of parametric and non-parametric tools. Multiple correspondence analysis was carried out for possible co-segregations of features. Beighton score and hypermobility at other joints were influenced by age at diagnosis. Rate and sites of joint instability complications did not vary according to age at diagnosis except for soft-tissue injuries. No major difference was registered by sex and dominant versus non-dominant body side. At multiple correspondence analysis, selected features tend to co-segregate in a dichotomous distribution. Dolichostenomelia and arachnodactyly segregated independently. This study pointed out a more protean musculoskeletal phenotype than previously considered according to available diagnostic criteria for JHS/EDS-HT. Our findings corroborated the need for a re-thinking of JHS/EDS-HT on clinical grounds in order to find better therapeutic and research strategies. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Proton Pump Inhibitor-Responsive Oesophageal Eosinophilia: An Entity Challenging Current Diagnostic Criteria for Eosinophilic Oesophagitis

PubMed Central

Molina-Infante, Javier; Bredenoord, Albert J.; Cheng, Edaire; Dellon, Evan S.; Furuta, Glenn T.; Gupta, Sandeep K.; Hirano, Ikuo; Katzka, David A.; Moawad, Fouad J.; Rothenberg, Marc E.; Schoepfer, Alain; Spechler, Stuart; Wen, Ting; Straumann, Alex; Lucendo, Alfredo J.

2016-01-01

Consensus diagnostic recommendations to distinguish gastro-oesophageal reflux disease (GORD) from eosinophilic oesophagitis (EoE) by response to a trial of proton pump inhibitors (PPI) unexpectedly uncovered an entity called “PPI-responsive oesophageal eosinophilia” (PPI-REE). PPI-REE refers to patients with clinical and histologic features of EoE that remit with PPI treatment. Recent and evolving evidence, mostly from adults, shows that PPI-REE and EoE patients at baseline are clinically, endoscopically and histologically indistinguishable, and have significant overlap in terms of features of Th2 immune-mediated inflammation and gene expression. Furthermore, PPI therapy restores oesophageal mucosal integrity, reduces Th2 inflammation and reverses the abnormal gene expression signature in PPI-REE patients, similar to the effects of topical steroids in EoE patients. Additionally, recent series have reported that EoE patients responsive to diet/topical steroids may also achieve remission on PPI therapy. This mounting evidence supports the concept that PPI-REE represents a continuum of the same immunologic mechanisms that underlie EoE. Accordingly, it seems counterintuitive to differentiate PPI-REE from EoE based on a differential response to PPI therapy when their phenotypic, molecular, mechanistic, and therapeutic features cannot be reliably distinguished. For patients with symptoms and histologic features of EoE, it is reasonable to consider PPI therapy not as a diagnostic test, but as a therapeutic agent. Due to its safety profile, ease of administration and high response rates (up to 50%), PPI can be considered a first-line treatment, before diet and topical steroids. The reasons why some EoE patients respond to PPI, while others do not, remain to be elucidated. PMID:26685124

Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.

PubMed

Andersen, Erica F; Baldwin, Erin E; Ellingwood, Sara; Smith, Rosemarie; Lamb, Allen N

2014-07-01

Duplications involving terminal Xq28 are a known cause of intellectual disability (ID) in males and in females with unfavorable X-inactivation patterns. Within Xq28, functional disomy of MECP2 causes a severe ID syndrome, however the dosage sensitivity of other Xq28 duplicated genes is less certain. Duplications involving the int22h-1/int22h-2 LCR-flanked region in distal Xq28 have recently been linked to a novel ID-associated phenotype. While evidence for the dosage sensitivity of this region is emerging, the phenotypic contribution of individual genes within the int22h-1/int22h-2-flanked region has yet to be determined. We report a familial case of a novel 774 kb Xq28-qter duplication, detected by cytogenomic microarray analysis, that partially overlaps the int22h-1/int22h-2-flanked region. This duplication and a 570 kb Xpter-p22.33 loss within the pseudoautosomal region were identified in three siblings, one female and two males, who presented with developmental delays/intellectual disability, mild dysmorphic features and short stature. Although unconfirmed, these results are suggestive of maternal inheritance of a recombinant X. We compare our clinical findings to patients with int22h-1/int22h-2-mediated duplications and discuss the potential pathogenicity of genes within the duplicated region, including those within the shared region of overlap, RAB39B and CLIC2. © 2014 Wiley Periodicals, Inc.

Might the temperament be a bias in clinical study on attention-deficit hyperactivity disorder (ADHD)?: Novelty Seeking dimension as a core feature of ADHD.

PubMed

Donfrancesco, Renato; Di Trani, Michela; Porfirio, Maria Cristina; Giana, Grazia; Miano, Silvia; Andriola, Elda

2015-06-30

Some clinical studies on attention deficit hyperactivity disorder (ADHD) have been found to overlap those of studies on personality, particularly those on the Novelty Seeking trait (NS) as measured by the Junior Temperament and Character Inventory (JTCI). The aim of this study was to evaluate the potential role of NS in clinical research on ADHD. We enroled 146 ADHD children (125 boys; mean age=9.61, S.D.=2.50) and 223 age- and gender-matched control children (178 boys; mean age=9.41, S.D.=2.30). All the parents filled in the JTCI for the evaluation of personality according to Cloninger׳s model. An exploratory factor analysis differentiated the NS items that concern "Impulsivity" (NS1) from those that concern other features (NS2). Multivariate Analysis of Variance (MANOVAs) revealed significant differences between ADHD children and non-ADHD children in temperamental dimensions: the scores of ADHD children were higher than those of non-ADHD children in Total NS, NS1-Impulsivity and NS2. Our results show that the NS dimension of the JTCI in ADHD children is higher than in non-ADHD children, even when a correction is made for impulsivity items. This finding suggests that the NS trait plays a central role in ADHD diagnosis even when items referred to impulsivity are removed from the NS scale. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

CLINICAL FACTORS ASSOCIATED WITH BIOCHEMICAL ADRENAL-CORTISOL INSUFFICIENCY IN HOSPITALIZED PATIENTS

PubMed Central

Ben-Shlomo, Anat; Mirocha, James; Liu, Ning-Ai; Sheinin, Renee C.; Melmed, Shlomo

2014-01-01

Background Diagnosis of adrenal-cortisol insufficiency is often misleading in hospitalized patients as clinical and biochemical features overlap with co-morbidities. We analyzed clinical determinants associated with a biochemical diagnosis of adrenal-cortisol insufficiency in non-ICU hospitalized patients. Methods In a retrospective cohort study we reviewed 4668 inpatients with random morning cortisol levels ≤15 μg/dL hospitalized in our center between 2003 and 2010. Using serum cortisol threshold level of 18 μg/dL 30 and/or 60 minutes after cortrosyn (250 μg) injection to define biochemical adrenal-cortisol status, we characterized and compared insufficient (n=108, serum cortisol ≤18 μg/dL) and sufficient ( n=394; serum cortisol >18 μg/dL) non-ICU hospitalized patients. Results Commonly reported clinical and routine biochemical adrenal-cortisol insufficiency features were similar between insufficient and sufficient inpatients. Biochemical adrenal-cortisol insufficiency was associated with increased frequency of liver disease, specifically hepatitis C (p=0.01) and prior orthotopic liver transplantation (p<0.001), HIV (p=0.005) and reported preexisting male hypogonadism (p<0.001) as compared to biochemical adrenal-cortisol sufficiency group. Forty percent of insufficient inpatients were not treated with glucocorticoids after diagnosis. Multivariable logistic analysis demonstrated that inpatients with higher cortisol levels (p=0.0001), higher diastolic blood pressure (p=0.05) and females (p=0.009) were more likely not to be treated, while those with previous short-term glucocorticoid treatment (p=0.002), had other co-existing endocrine diseases (p=0.005) or received an inhospital endocrinology consultation (p<0.0001) were more likely to be replaced with glucocorticoids. Conclusions Commonly reported adrenal-cortisol insufficiency features do not reliably identify hospitalized patients biochemically confirmed to have this disorder. Co-morbidities including hepatitis C, prior orthotopic liver transplantation, HIV, and reported pre-existing male hypogonadism may help identify hospitalized non-ICU patients for more rigorous adrenal insufficiency assessment. PMID:24632056

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

A common challenge in older adults: Classification, overlap, and therapy of depression and dementia.

PubMed

Leyhe, Thomas; Reynolds, Charles F; Melcher, Tobias; Linnemann, Christoph; Klöppel, Stefan; Blennow, Kaj; Zetterberg, Henrik; Dubois, Bruno; Lista, Simone; Hampel, Harald

2017-01-01

Late-life depression is frequently associated with cognitive impairment. Depressive symptoms are often associated with or even precede a dementia syndrome. Moreover, depressive disorders increase the risk of persistence for mild cognitive impairment and dementia. Here, we present both the current state of evidence and future perspectives regarding the integration and value of clinical assessments, neuropsychological, neurochemical, and neuroimaging biomarkers for the etiological classification of the dementia versus the depression syndrome and for the prognosis of depression relating to dementia risk. Finally, we summarize the existing evidence for both pharmacotherapy and psychotherapy of depression in demented patients. There is an urgent need for large-scale collaborative research to elucidate the role and interplay of clinical and biological features in elderly individuals with depressive disorders who are at elevated risk for developing dementia. To overcome barriers for successful drug development, we propose the introduction of the precision medicine paradigm to this research field. Copyright © 2016 the Alzheimer's Association. Published by Elsevier Inc. All rights reserved.

Masculinity in adolescent males' early romantic and sexual heterosexual relationships.

PubMed

Bell, David L; Rosenberger, Joshua G; Ott, Mary A

2015-05-01

There is a need to understand better the complex interrelationship between the adoption of masculinity during adolescence and the development of early romantic and sexual relationships. The purpose of this study was to describe features of adolescent masculinity and how it is expressed in the contexts of early to middle adolescent males' romantic and sexual relationships. Thirty-three 14- to 16-year-old males were recruited from an adolescent clinic serving a community with high sexually transmitted infection rates and were asked open-ended questions about their relationships-how they developed, progressed, and ended. Participants described a high degree of relationally oriented beliefs and behaviors related to romantic and sexual relationships, such as a desire for intimacy and trust. The males also described a more limited degree of conventionally masculine beliefs and behaviors. These beliefs and behaviors often coexisted or overlapped. Implications for the clinical care of similar groups of adolescents are described. © The Author(s) 2014.

Clinico-pathological features of kidney disease in diabetic cases.

PubMed

Furuichi, Kengo; Shimizu, Miho; Okada, Hirokazu; Narita, Ichiei; Wada, Takashi

2018-03-21

Diabetic kidney disease is the major cause of end-stage kidney disease in developed countries. However, the onset of kidney disorder and the progression pattern of kidney dysfunction and proteinuria greatly vary cases by cases. Therefore, risk classification with clinical data and pathological findings is important. Recent clinico-pathological study with kidney biopsy samples from diabetic patients revealed that pathological changes of diabetic nephropathy are characteristic and have special impacts on prognosis in each clinical stage. Moreover, comparison of the clinico-pathological findings of diabetic nephropathy with hypertensive nephrosclerosis revealed that there are few differences in their pathological findings in cases with low albuminuria and preserved estimated glomerular filtration rate (eGFR). Because it is so difficult to clearly distinguish pure kidney lesions caused by diabetes and kidney lesions due to effects other than diabetes, it is vital that these overlapped pathological findings be confirmed on kidney biopsy in cases of early stage diabetes. Further research is warranted regarding the pathogenesis of diabetic nephropathy and indication of kidney biopsy in diabetic cases.

New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.

PubMed

Sabatelli, Mario; Marangi, Giuseppe; Conte, Amelia; Tasca, Giorgio; Zollino, Marcella; Lattante, Serena

2016-03-01

Amyotrophic Lateral Sclerosis (ALS) is characterized by the degeneration of upper and lower motor neurons. Clinical heterogeneity is a well-recognized feature of the disease as age of onset, site of onset and the duration of the disease can vary greatly among patients. A number of genes have been identified and associated to familial and sporadic forms of ALS but the majority of cases remains still unexplained. Recent breakthrough discoveries have demonstrated that clinical manifestations associated with ALS-related genes are not circumscribed to motor neurons involvement. In this view, ALS appears to be linked to different conditions over a continuum or spectrum in which overlapping phenotypes may be identified. In this review, we aim to examine the increasing number of spectra, including ALS/Frontotemporal Dementia and ALS/Myopathies spectra. Considering all these neurodegenerative disorders as different phenotypes of the same spectrum can help to identify common pathological pathways and consequently new therapeutic targets in these incurable diseases. © 2016 International Society of Neuropathology.

"Atypical" Pleomorphic Lipomatous Tumor: A Clinicopathologic, Immunohistochemical and Molecular Study of 21 Cases, Emphasizing its Relationship to Atypical Spindle Cell Lipomatous Tumor and Suggesting a Morphologic Spectrum (Atypical Spindle Cell/Pleomorphic Lipomatous Tumor).

PubMed

Creytens, David; Mentzel, Thomas; Ferdinande, Liesbeth; Lecoutere, Evelyne; van Gorp, Joost; Atanesyan, Lilit; de Groot, Karel; Savola, Suvi; Van Roy, Nadine; Van Dorpe, Jo; Flucke, Uta

2017-11-01

The classification of the until recently poorly explored group of atypical adipocytic neoplasms with spindle cell features, for which recently the term atypical spindle cell lipomatous tumor (ASLT) has been proposed, remains challenging. Recent studies have proposed ASLT as a unique entity with (in at least a significant subset of cases) a specific genetic background, namely deletions/losses of 13q14, including RB1 and its flanking genes RCBTB2, DLEU1, and ITM2B. Similar genetic aberrations have been reported in pleomorphic liposarcomas (PLSs). This prompted us to investigate a series of 21 low-grade adipocytic neoplasms with a pleomorphic lipoma-like appearance, but with atypical morphologic features (including atypical spindle cells, pleomorphic [multinucleated] cells, pleomorphic lipoblasts and poor circumscription), for which we propose the term "atypical" pleomorphic lipomatous tumor (APLT). Five cases of PLS were also included in this study. We used multiplex ligation-dependent probe amplification to evaluate genetic changes of 13q14. In addition, array-based comparative genomic hybridization was performed on 4 APLTs and all PLSs. Multiplex ligation-dependent probe amplification showed consistent loss of RB1 and its flanking gene RCBTB2 in all cases of APLT. This genetic alteration was also present in all PLSs, suggesting genetic overlap, in addition to morphologic overlap, with APLTs. However, array-based comparative genomic hybridization demonstrated more complex genetic alterations with more losses and gains in PLSs compared with APLTs. APLTs arose in the subcutis (67%) more frequently than in the deep (subfascial) soft tissues (33%). With a median follow-up of 42 months, recurrences were documented in 2 of 12 APLTs for which a long follow-up was available. Herein, we also demonstrate that APLTs share obvious overlapping morphologic, immunohistochemical, genetic and clinical characteristics with the recently defined ASLT, suggesting that they are related lesions that form a spectrum (atypical spindle cell/pleomorphic lipomatous tumor).

Separation and sequence detection of overlapped fingerprints: experiments and first results

NASA Astrophysics Data System (ADS)

Kärgel, Rainer; Giebel, Sascha; Leich, Marcus; Dittmann, Jana

2011-11-01

Latent fingerprints provide vital information in modern crime scene investigation. On frequently touched surfaces the fingerprints may overlap which poses a major problem for forensic analysis. In order to make such overlapping fingerprints available for analysis, they have to be separated. An additional evaluation of the sequence in which the fingerprints were brought onto the surface can help to reconstruct the progression of events. Advances in both tasks can considerably aid crime investigation agencies and are the subject of this work. Here, a statistical approach, initially devised for the separation of overlapping text patterns by Tonazzini et al.,1 is employed to separate overlapping fingerprints. The method involves a maximum a posteriori estimation of the single fingerprints and the mixing coefficients, computed by an expectation-maximization algorithm. A fingerprint age determination feature based on corrosion is evaluated for sequence estimation. The approaches are evaluated using 30 samples of overlapping latent fingerprints on two different substrates. The fingerprint images are acquired with a non-destructive chromatic white light surface measurement device, each sample containing exactly two fingerprints that overlap in the center of the image. Since forensic investigations rely on manual assessment of acquired fingerprints by forensics experts, a subjective scale ranging from 0 to 8 is used to rate the separation results. Our results indicate that the chosen method can separate overlapped fingerprints which exhibit strong differences in contrast, since results gradually improve with the growing contrast difference of the overlapping fingerprints. Investigating the effects of corrosion leads to a reliable determination of the fingerprints' sequence as the timespan between their leaving increases.

Idiopathic inflammatory myopathies overlapping with systemic diseases

PubMed Central

Lepreux, Sébastien; Hainfellner, Johannes A.; Vital, Anne

2018-01-01

A muscle biopsy is currently requested to assess the diagnosis of an idiopathic inflammatory myopathy overlapping with a systemic disease. During the past few years, the classification of inflammatory myopathy subtypes has been revisited progressively on the basis of correlations between clinical phenotypes, autoantibodies and histological data. Several syndromic entities are now more clearly defined, and the aim of the present review is to clarify the contribution of muscle biopsy in a setting of idiopathic inflammatory myopathies overlapping with systemic diseases. PMID:29154752

Intraductal Tubulopapillary Neoplasm of the Pancreas: An Update From a Pathologist's Perspective.

PubMed

Rooney, Sarah L; Shi, Jiaqi

2016-10-01

-Intraductal tubulopapillary neoplasm (ITPN) is a rare intraductal epithelial neoplasm of the pancreas recently recognized as a distinct entity by the World Health Organization classification in 2010. It is defined as an intraductal, grossly visible, tubule-forming epithelial neoplasm with high-grade dysplasia and ductal differentiation without overt production of mucin. The diagnosis can be challenging owing to morphologic overlap with other intraductal lesions and its rarity. While recent advances in molecular genetic studies of ITPN have provided new tools to facilitate clinical diagnosis, the limited number of cases has yielded limited follow-up data to guide management. -To provide a clinical, pathologic, and molecular update on ITPN with respect to clinical presentation, imaging findings, histopathologic features, differential diagnosis, biological behavior, molecular characteristics, and treatment options. -Analysis of the pertinent literature (PubMed) and authors' research and clinical practice experience based on institutional and consultation materials. -Clinical presentation, imaging findings, histopathology, immunohistochemistry studies, molecular characteristics, prognosis, and treatment options of ITPN are reviewed. Important differential diagnoses with other intraductal neoplasms of the pancreas-especially intraductal papillary mucinous neoplasm-using histopathologic, molecular, and immunohistochemical studies, are discussed. Despite the recent progress, more studies are necessary to assess the biology and genetics of ITPN for a better understanding of the prognostic factors and treatment options.

The Genetic Challenges and Opportunities in Advanced Heart Failure

PubMed Central

Hannah-Shmouni, Fady; Seidelmann, Sara B.; Sirrs, Sandra; Mani, Arya; Jacoby, Daniel

2017-01-01

The causes of heart failure are diverse. Inherited causes represent an important clinical entity and can be divided into 2 major categories: familial and metabolic cardiomyopathies. The distinct features that might be present in early disease states can become broadly overlapping with other diseases, such as in the case of inherited cardiomyopathies (ie, familial hypertrophic cardiomyopathy or mitochondrial diseases). In this review article, we focus on genetic issues related to advanced heart failure. Because of the emerging importance of this topic and its breadth, we sought to focus our discussion on the known genetic forms of heart failure syndromes, genetic testing, and newer data on pharmacogenetics and therapeutics in the treatment of heart failure, to primarily encourage clinicians to place a priority on the diagnosis and treatment of these potentially treatable conditions. PMID:26518444

Should compulsive sexual behavior be considered an addiction?

PubMed Central

Kraus, Shane W.; Voon, Valerie; Potenza, Marc N.

2016-01-01

Aims To review the evidence base for classifying compulsive sexual behavior (CSB) as a non-substance or “behavioral” addiction. Methods Data from multiple domains (e.g., epidemiological, phenomenological, clinical, biological) are reviewed and considered with respect to data from substance and gambling addictions. Results Overlapping features exist between CSB and substance-use disorders. Common neurotransmitter systems may contribute to CSB and substance-use disorders, and recent neuroimaging studies highlight similarities relating to craving and attentional biases. Similar pharmacological and psychotherapeutic treatments may be applicable to CSB and substance addictions, although considerable gaps in knowledge currently exist. Conclusions Despite the growing body of research linking compulsive sexual behavior to substance addictions, significant gaps in understanding continue to complicate classification of compulsive sexual behaviour as an addiction. PMID:26893127

Should compulsive sexual behavior be considered an addiction?

PubMed

Kraus, Shane W; Voon, Valerie; Potenza, Marc N

2016-12-01

To review the evidence base for classifying compulsive sexual behavior (CSB) as a non-substance or 'behavioral' addiction. Data from multiple domains (e.g. epidemiological, phenomenological, clinical, biological) are reviewed and considered with respect to data from substance and gambling addictions. Overlapping features exist between CSB and substance use disorders. Common neurotransmitter systems may contribute to CSB and substance use disorders, and recent neuroimaging studies highlight similarities relating to craving and attentional biases. Similar pharmacological and psychotherapeutic treatments may be applicable to CSB and substance addictions, although considerable gaps in knowledge currently exist. Despite the growing body of research linking compulsive sexual behavior (CSB) to substance addictions, significant gaps in understanding continue to complicate classification of CSB as an addiction. © 2016 Society for the Study of Addiction.

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

PubMed

Sarrabay, Guillaume; Grandemange, Sylvie; Touitou, Isabelle

2015-01-01

Cryopyrin-associated periodic syndrome are rare autosomal dominantly inherited diseases. They include three overlapping phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous articular syndrome/neonatal onset multisystem autoinflammatory syndrome (NOMID/CINCA). Recurrent fevers, joint pain, and urticarial skin rash are the main clinical features of these conditions. Renal amyloidosis and sensorineural complications may occur. Gain-of-function mutations in NLRP3 gene are responsible for the overactivation of the NLRP3 inflammasome, a multimolecular complex involved in the inflammatory process. Missense mutations are almost always encountered, particularly in exon 3, which encodes the nucleotide-binding domain. Mosaicism is not rare, especially in CINCA/NOMID. Next-generation sequencing will grant access to new insights about NLRP3 implication in oligogenic and multifactorial diseases.

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.

PubMed

Ortigoza-Escobar, Juan Darío; Alfadhel, Majid; Molero-Luis, Marta; Darin, Niklas; Spiegel, Ronen; de Coo, Irenaeus F; Gerards, Mike; Taylor, Robert W; Artuch, Rafael; Nashabat, Marwan; Rodríguez-Pombo, Pilar; Tabarki, Brahim; Pérez-Dueñas, Belén

2017-09-01

Primary and secondary conditions leading to thiamine deficiency have overlapping features in children, presenting with acute episodes of encephalopathy, bilateral symmetric brain lesions, and high excretion of organic acids that are specific of thiamine-dependent mitochondrial enzymes, mainly lactate, alpha-ketoglutarate, and branched chain keto-acids. Undiagnosed and untreated thiamine deficiencies are often fatal or lead to severe sequelae. Herein, we describe the clinical and genetic characterization of 79 patients with inherited thiamine defects causing encephalopathy in childhood, identifying outcome predictors in patients with pathogenic SLC19A3 variants, the most common genetic etiology. We propose diagnostic criteria that will aid clinicians to establish a faster and accurate diagnosis so that early vitamin supplementation is considered. Ann Neurol 2017;82:317-330. © 2017 American Neurological Association.

Triple Hit Lymphoma: Rare Cases With Less Dire Than Usual Prognosis.

PubMed

Kallen, Michael E; Alexanian, Serge; Said, Jonathan; Quintero-Rivera, Fabiola

2016-12-01

Triple hit lymphomas are a subset of so-called double hit non-Hodgkin lymphomas exhibiting simultaneous gene translocations/disruption of MYC, BCL2, and BCL6; however, their overlapping morphologic features and complex genetic rearrangements can render classification and prognostication vexing. Clinically triple hit lymphomas are thought to demonstrate aggressive behavior, similar to or worse than that of double hit lymphomas. Only rare reports of long term survivors exist and raise the possibility that unidentified morphologic, immunologic, or cytogenetic differences may impart a less adverse prognosis than current literature and opinion may suggest. Here we report 3 such cases with less aggressive behavior. Cases such as these may prove useful in comparing outcomes, and underlying mechanisms of tumor progression, in aggressive non-Hodgkin lymphomas. © The Author(s) 2016.

Velo-cardio-facial syndrome and psychotic disorders: Implications for psychiatric genetics

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

Chow, W.C.; Bassett, A.S.; Weksberg, R.

Psychiatric disorders have been reported in over 10% of patients with velo-cardio-facial syndrome (VCFS) in long-term follow-up. To further explore the behavioral and psychiatric findings associated with VCFS in adulthood, detailed clinical histories of two patients - one with VCFS who developed a psychotic illness, and one with schizophrenia who was found to have dysmorphological features associated with VCFS - are described in the current report. The observed overlap of physical and psychiatric symptoms in these two patients suggests that VCFS and psychotic disorders may share a pathogenetic mechanism. This could be consistent with a contiguous gene model for VCFSmore » and psychosis, suggesting chromosome 22q11 as a possible candidate region for genetic studies of schizophrenia. 26 refs., 2 tabs.« less

Social (pragmatic) communication disorders and autism spectrum disorder.

PubMed

Baird, Gillian; Norbury, Courtenay Frazier

2016-08-01

Changes have been made to the diagnostic criteria for autism spectrum disorder (ASD) in the recent revision of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), and similar changes are likely in the WHO International Classification of Diseases (ICD-11) due in 2017. In light of these changes, a new clinical disorder, social (pragmatic) communication disorder (SPCD), was added to the neurodevelopmental disorders section of DSM-5. This article describes the key features of ASD, SPCD and the draft ICD-11 approach to pragmatic language impairment, highlighting points of overlap between the disorders and criteria for differential diagnosis. 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/

Identification of spectrally similar materials using the USGS Tetracorder algorithm: The calcite-epidote-chlorite problem

USGS Publications Warehouse

Dalton, J.B.; Bove, D.J.; Mladinich, C.S.; Rockwell, B.W.

2004-01-01

A scheme to discriminate and identify materials having overlapping spectral absorption features has been developed and tested based on the U.S. Geological Survey (USGS) Tetracorder system. The scheme has been applied to remotely sensed imaging spectroscopy data acquired by the Airborne Visible and Infrared Imaging Spectrometer (AVIRIS) instrument. This approach was used to identify the minerals calcite, epidote, and chlorite in the upper Animas River watershed, Colorado. The study was motivated by the need to characterize the distribution of calcite in the watershed and assess its acid-neutralizing potential with regard to acidic mine drainage. Identification of these three minerals is difficult because their diagnostic spectral features are all centered at 2.3 ??m, and have similar shapes and widths. Previous studies overestimated calcite abundance as a result of these spectral overlaps. The use of a reference library containing synthetic mixtures of the three minerals in varying proportions was found to simplify the task of identifying these minerals when used in conjunction with a rule-based expert system. Some inaccuracies in the mineral distribution maps remain, however, due to the influence of a fourth spectral component, sericite, which exhibits spectral absorption features at 2.2 and 2.4 ??m that overlap the 2.3-??m absorption features of the other three minerals. Whereas the endmember minerals calcite, epidote, chlorite, and sericite can be identified by the method presented here, discrepancies occur in areas where all four occur together as intimate mixtures. It is expected that future work will be able to reduce these discrepancies by including reference mixtures containing sericite. ?? 2004 Elsevier Inc. All rights reserved.

Kernel-based discriminant feature extraction using a representative dataset

NASA Astrophysics Data System (ADS)

Li, Honglin; Sancho Gomez, Jose-Luis; Ahalt, Stanley C.

2002-07-01

Discriminant Feature Extraction (DFE) is widely recognized as an important pre-processing step in classification applications. Most DFE algorithms are linear and thus can only explore the linear discriminant information among the different classes. Recently, there has been several promising attempts to develop nonlinear DFE algorithms, among which is Kernel-based Feature Extraction (KFE). The efficacy of KFE has been experimentally verified by both synthetic data and real problems. However, KFE has some known limitations. First, KFE does not work well for strongly overlapped data. Second, KFE employs all of the training set samples during the feature extraction phase, which can result in significant computation when applied to very large datasets. Finally, KFE can result in overfitting. In this paper, we propose a substantial improvement to KFE that overcomes the above limitations by using a representative dataset, which consists of critical points that are generated from data-editing techniques and centroid points that are determined by using the Frequency Sensitive Competitive Learning (FSCL) algorithm. Experiments show that this new KFE algorithm performs well on significantly overlapped datasets, and it also reduces computational complexity. Further, by controlling the number of centroids, the overfitting problem can be effectively alleviated.

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

PubMed

Descipio, Cheryl; Schneider, Lori; Young, Terri L; Wasserman, Nora; Yaeger, Dinah; Lu, Fengmin; Wheeler, Patricia G; Williams, Marc S; Bason, Lynn; Jukofsky, Lori; Menon, Ammini; Geschwindt, Ryan; Chudley, Albert E; Saraiva, Jorge; Schinzel, Albert A G L; Guichet, Agnes; Dobyns, William E; Toutain, Annick; Spinner, Nancy B; Krantz, Ian D

2005-04-01

We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptosis, posterior embryotoxon, optic nerve abnormalities, mild glaucoma, Dandy-Walker malformation, hydrocephalus, atrial septal defect, patent ductus arteriosus, and mild mental retardation. There is considerable clinical overlap between these children and individuals with the Ritscher-Schinzel (or cranio-cerebello-cardiac (3C)) syndrome (OMIM #220210). Clinical features of 3C syndrome include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects). Since the original report, over 25 patients with 3C syndrome have been reported. Recessive inheritance has been postulated based on recurrence in siblings born to unaffected parents and parental consanguinity in two familial cases. Molecular and cytogenetic mapping of the 6p deletions in these three families with subtelomeric deletions of chromosome 6p have defined a 1.3 Mb minimally deleted critical region. To determine if 6p deletions are common in 3C syndrome, we analyzed seven unrelated individuals with 3C syndrome for deletions of this region. Three forkhead genes (FOXF1 and FOXQ1 from within the critical region, and FOXC1 proximal to this region) were evaluated as potential candidate disease genes for this disorder. No deletions or disease-causing mutations were identified.

The Charm and Beauty of Strong Interactions

NASA Astrophysics Data System (ADS)

El-Bennich, Bruno

2018-01-01

We briefly review common features and overlapping issues in hadron and flavor physics focussing on continuum QCD approaches to heavy bound states, their mass spectrum and weak decay constants in different strong interaction models.

Borderline personality features and implicit shame-prone self-concept in middle childhood and early adolescence.

PubMed

Hawes, David J; Helyer, Rebekah; Herlianto, Eugene C; Willing, Jonah

2013-01-01

This study tested if children and adolescents with high levels of borderline personality features (BPF) exhibit the same shame-prone self-concept previously found to characterize adults with borderline personality disorder (Rüsch et al., 2007 ). Self-concept was indexed using the Implicit Association Test, in a community sample of children/adolescents aged 10 to 14 years (48% female; M age = 12.04 years). Common domains of child and adolescent psychopathology and core components of BPF were assessed using self-reports on the Strengths and Difficulties Questionnaire and the Borderline Personality Features Scale for Children. The identity problems component of BPF was found to significantly predict implicit levels of shame-prone self-concept, but only among girls. This effect was independent of the key dimensions of child and adolescent psychopathology that overlap with BPF-including features hyperactivity/inattention, disruptive behavior problems, and anxiety/depression-none of which were associated with shame-prone self-concept at the bivariate level or otherwise. The current findings provide preliminary evidence that self-schemas related to shame are uniquely associated with a core component of BPF in middle childhood and early adolescence and suggest that this correlate may apply uniquely to female individuals. These findings point to the identity problems component of BPF as a priority for future clinical and developmental research into mechanisms associated with BPF across childhood and adolescence.

Grid adaption using Chimera composite overlapping meshes

NASA Technical Reports Server (NTRS)

Kao, Kai-Hsiung; Liou, Meng-Sing; Chow, Chuen-Yen

1993-01-01

The objective of this paper is to perform grid adaptation using composite over-lapping meshes in regions of large gradient to capture the salient features accurately during computation. The Chimera grid scheme, a multiple overset mesh technique, is used in combination with a Navier-Stokes solver. The numerical solution is first converged to a steady state based on an initial coarse mesh. Solution-adaptive enhancement is then performed by using a secondary fine grid system which oversets on top of the base grid in the high-gradient region, but without requiring the mesh boundaries to join in any special way. Communications through boundary interfaces between those separated grids are carried out using tri-linear interpolation. Applications to the Euler equations for shock reflections and to a shock wave/boundary layer interaction problem are tested. With the present method, the salient features are well resolved.

Integrative Sparse K-Means With Overlapping Group Lasso in Genomic Applications for Disease Subtype Discovery

PubMed Central

Huo, Zhiguang; Tseng, George

2017-01-01

Cancer subtypes discovery is the first step to deliver personalized medicine to cancer patients. With the accumulation of massive multi-level omics datasets and established biological knowledge databases, omics data integration with incorporation of rich existing biological knowledge is essential for deciphering a biological mechanism behind the complex diseases. In this manuscript, we propose an integrative sparse K-means (is-K means) approach to discover disease subtypes with the guidance of prior biological knowledge via sparse overlapping group lasso. An algorithm using an alternating direction method of multiplier (ADMM) will be applied for fast optimization. Simulation and three real applications in breast cancer and leukemia will be used to compare is-K means with existing methods and demonstrate its superior clustering accuracy, feature selection, functional annotation of detected molecular features and computing efficiency. PMID:28959370

Integrative Sparse K-Means With Overlapping Group Lasso in Genomic Applications for Disease Subtype Discovery.

PubMed

Huo, Zhiguang; Tseng, George

2017-06-01

Cancer subtypes discovery is the first step to deliver personalized medicine to cancer patients. With the accumulation of massive multi-level omics datasets and established biological knowledge databases, omics data integration with incorporation of rich existing biological knowledge is essential for deciphering a biological mechanism behind the complex diseases. In this manuscript, we propose an integrative sparse K -means (is- K means) approach to discover disease subtypes with the guidance of prior biological knowledge via sparse overlapping group lasso. An algorithm using an alternating direction method of multiplier (ADMM) will be applied for fast optimization. Simulation and three real applications in breast cancer and leukemia will be used to compare is- K means with existing methods and demonstrate its superior clustering accuracy, feature selection, functional annotation of detected molecular features and computing efficiency.

Grid adaptation using chimera composite overlapping meshes

NASA Technical Reports Server (NTRS)

Kao, Kai-Hsiung; Liou, Meng-Sing; Chow, Chuen-Yen

1994-01-01

The objective of this paper is to perform grid adaptation using composite overlapping meshes in regions of large gradient to accurately capture the salient features during computation. The chimera grid scheme, a multiple overset mesh technique, is used in combination with a Navier-Stokes solver. The numerical solution is first converged to a steady state based on an initial coarse mesh. Solution-adaptive enhancement is then performed by using a secondary fine grid system which oversets on top of the base grid in the high-gradient region, but without requiring the mesh boundaries to join in any special way. Communications through boundary interfaces between those separated grids are carried out using trilinear interpolation. Application to the Euler equations for shock reflections and to shock wave/boundary layer interaction problem are tested. With the present method, the salient features are well-resolved.

Grid adaptation using Chimera composite overlapping meshes

NASA Technical Reports Server (NTRS)

Kao, Kai-Hsiung; Liou, Meng-Sing; Chow, Chuen-Yen

1993-01-01

The objective of this paper is to perform grid adaptation using composite over-lapping meshes in regions of large gradient to capture the salient features accurately during computation. The Chimera grid scheme, a multiple overset mesh technique, is used in combination with a Navier-Stokes solver. The numerical solution is first converged to a steady state based on an initial coarse mesh. Solution-adaptive enhancement is then performed by using a secondary fine grid system which oversets on top of the base grid in the high-gradient region, but without requiring the mesh boundaries to join in any special way. Communications through boundary interfaces between those separated grids are carried out using tri-linear interpolation. Applications to the Euler equations for shock reflections and to a shock wave/boundary layer interaction problem are tested. With the present method, the salient features are well resolved.

Ubiquitous information for ubiquitous computing: expressing clinical data sets with openEHR archetypes.

PubMed

Garde, Sebastian; Hovenga, Evelyn; Buck, Jasmin; Knaup, Petra

2006-01-01

Ubiquitous computing requires ubiquitous access to information and knowledge. With the release of openEHR Version 1.0 there is a common model available to solve some of the problems related to accessing information and knowledge by improving semantic interoperability between clinical systems. Considerable work has been undertaken by various bodies to standardise Clinical Data Sets. Notwithstanding their value, several problems remain unsolved with Clinical Data Sets without the use of a common model underpinning them. This paper outlines these problems like incompatible basic data types and overlapping and incompatible definitions of clinical content. A solution to this based on openEHR archetypes is motivated and an approach to transform existing Clinical Data Sets into archetypes is presented. To avoid significant overlaps and unnecessary effort during archetype development, archetype development needs to be coordinated nationwide and beyond and also across the various health professions in a formalized process.

Correlation of Clinicoserologic and Pathologic Classifications of Inflammatory Myopathies

PubMed Central

Fernandez, Carla; Bardin, Nathalie; De Paula, André Maues; Salort-Campana, Emmanuelle; Benyamine, Audrey; Franques, Jérôme; Schleinitz, Nicolas; Weiller, Pierre-Jean; Pouget, Jean; Pellissier, Jean-François; Figarella-Branger, Dominique

2013-01-01

Abstract The idiopathic inflammatory myopathies (IIM) are acquired muscle diseases characterized by muscle weakness and inflammation on muscle biopsy. Clinicoserologic classifications do not take muscle histology into account to distinguish the subsets of IIM. Our objective was to determine the pathologic features of each serologic subset of IIM and to correlate muscle biopsy results with the clinicoserologic classification defined by Troyanov et al, and with the final diagnoses. We retrospectively studied a cohort of 178 patients with clinicopathologic features suggestive of IIM with the exclusion of inclusion body myositis. At the end of follow-up, 156 of 178 cases were still categorized as IIM: pure dermatomyositis, n = 44; pure polymyositis, n = 14; overlap myositis, n = 68; necrotizing autoimmune myopathy, n = 8; cancer-associated myositis, n = 18; and unclassified IIM, n = 4. The diagnosis of IIM was ruled out in the 22 remaining cases. Pathologic dermatomyositis was the most frequent histologic picture in all serologic subsets of IIM, with the exception of patients with anti-Ku or anti-SRP autoantibodies, suggesting that it supports the histologic diagnosis of pure dermatomyositis, but also myositis of connective tissue diseases and cancer-associated myositis. Unspecified myositis was the second most frequent histologic pattern. It frequently correlated with overlap myositis, especially with anti-Ku or anti-PM-Scl autoantibodies. Pathologic polymyositis was rare and more frequently correlated with myositis mimickers than true polymyositis. The current study shows that clinicoserologic and pathologic data are complementary and must be taken into account when classifying patients with IIM patients. We propose guidelines for diagnosis according to both clinicoserologic and pathologic classifications, to be used in clinical practice. PMID:23269233

Clinico-Histopathological Spectrum of Infectious Granulomatous Dermatoses in Western India- A Representative Study from Mumbai.

PubMed

Grover, Sumit; Agale, Shubhangi Vinayak; D'Costa, Grace F; Valand, Arvind G; Gupta, Vikram Kumar

2016-04-01

Infectious Granulomatous Dermatoses (IGDS) have various aetiological factors with a considerable overlap in the histopathological and clinical features, thus posing a diagnostic dilemma for dermatologists and pathologists. We aimed at determining the histopathological profile of IGDS correlating it with clinical features with an attempt to find the aetiology. In a cross-sectional study conducted in a tertiary referral center of Mumbai over two years, out of 1872 skin biopsies received, 239 histopathologically diagnosed cases of IGDS were studied for histopathological features of granuloma. A clinico-histopathological correlation was attempted. Chi-square test was used for comparison of proportions of different groups. Leprosy (211 cases) and tuberculosis (28 cases) were the commonest histopathologically diagnosed IGDS. Leprosy spectrum included BT (30.33% cases), followed by TT (21.32%), BL and LL and 21.79% cases of lepra reactions. Skin TB biopsies on histopathology showed lupus vulgaris (53.85% cases), scrofuloderma (15.38%), TBVC and papulonecrotic tuberculid (11.54% each). In leprosy maximum clinico-pathological agreement was seen at tuberculoid pole (TT 72.7% and BT 56.6%). Among tuberculosis cases, scrofuloderma (100%) and lupus vulgaris (53.8%) showed maximum agreement. Leprosy and skin TB are the commonest IGDS in Mumbai region though difficult to diagnose and subcategorize with certainty during initial stages. Histopathology plays the important role to elucidate the dilemma. This being a single center study, more such studies with a larger sample size are recommended to get more elaborate data and regional prevalence of these IGDS for a better overall approach to prevention, treatment and control.

The Disturbance of Gaze in Progressive Supranuclear Palsy: Implications for Pathogenesis

PubMed Central

Chen, Athena L.; Riley, David E.; King, Susan A.; Joshi, Anand C.; Serra, Alessandro; Liao, Ke; Cohen, Mark L.; Otero-Millan, Jorge; Martinez-Conde, Susana; Strupp, Michael; Leigh, R. John

2010-01-01

Progressive supranuclear palsy (PSP) is a disease of later life that is currently regarded as a form of neurodegenerative tauopathy. Disturbance of gaze is a cardinal clinical feature of PSP that often helps clinicians to establish the diagnosis. Since the neurobiology of gaze control is now well understood, it is possible to use eye movements as investigational tools to understand aspects of the pathogenesis of PSP. In this review, we summarize each disorder of gaze control that occurs in PSP, drawing on our studies of 50 patients, and on reports from other laboratories that have measured the disturbances of eye movements. When these gaze disorders are approached by considering each functional class of eye movements and its neurobiological basis, a distinct pattern of eye movement deficits emerges that provides insight into the pathogenesis of PSP. Although some aspects of all forms of eye movements are affected in PSP, the predominant defects concern vertical saccades (slow and hypometric, both up and down), impaired vergence, and inability to modulate the linear vestibulo-ocular reflex appropriately for viewing distance. These vertical and vergence eye movements habitually work in concert to enable visuomotor skills that are important during locomotion with the hands free. Taken with the prominent early feature of falls, these findings suggest that PSP tauopathy impairs a recently evolved neural system concerned with bipedal locomotion in an erect posture and frequent gaze shifts between the distant environment and proximate hands. This approach provides a conceptual framework that can be used to address the nosological challenge posed by overlapping clinical and neuropathological features of neurodegenerative tauopathies. PMID:21188269

Evidence for Overlapping Genetic Influences on Autistic and ADHD Behaviours in a Community Twin Sample

ERIC Educational Resources Information Center

Ronald, Angelica; Simonoff, Emily; Kuntsi, Jonna; Asherson, Philip; Plomin, Robert

2008-01-01

Background: High levels of clinical comorbidity have been reported between autistic spectrum disorders (ASD) and attention deficit hyperactivity disorder (ADHD). This study takes an individual differences approach to determine the degree of phenotypic and aetiological overlap between autistic traits and ADHD behaviours in the general population.…

Medical X-ray Image Hierarchical Classification Using a Merging and Splitting Scheme in Feature Space.

PubMed

Fesharaki, Nooshin Jafari; Pourghassem, Hossein

2013-07-01

Due to the daily mass production and the widespread variation of medical X-ray images, it is necessary to classify these for searching and retrieving proposes, especially for content-based medical image retrieval systems. In this paper, a medical X-ray image hierarchical classification structure based on a novel merging and splitting scheme and using shape and texture features is proposed. In the first level of the proposed structure, to improve the classification performance, similar classes with regard to shape contents are grouped based on merging measures and shape features into the general overlapped classes. In the next levels of this structure, the overlapped classes split in smaller classes based on the classification performance of combination of shape and texture features or texture features only. Ultimately, in the last levels, this procedure is also continued forming all the classes, separately. Moreover, to optimize the feature vector in the proposed structure, we use orthogonal forward selection algorithm according to Mahalanobis class separability measure as a feature selection and reduction algorithm. In other words, according to the complexity and inter-class distance of each class, a sub-space of the feature space is selected in each level and then a supervised merging and splitting scheme is applied to form the hierarchical classification. The proposed structure is evaluated on a database consisting of 2158 medical X-ray images of 18 classes (IMAGECLEF 2005 database) and accuracy rate of 93.6% in the last level of the hierarchical structure for an 18-class classification problem is obtained.

Bartsocas-Papas syndrome with variable expressivity in an Egyptian family.

PubMed

Zaki, M S; Kamel, A K; Effat, L K; El-Ruby, M O

2012-01-01

Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited sublethal popliteal pterygium condition characterized by intrauterine or neonatal death, severe popliteal webbing, oligosyndactyly, ankyloblepharon, orofacial clefts, intraoral filiform bands and genital anomalies. Internal organ involvement has seldom been identified. We report on a 3 years old female patient of healthy first cousin parents with BPS. She presented with orofacial clefting, severe popliteal webs, club feet, oligosyndactyly of the toes, hypogenitalism and normal hands and internal organs. Ankyloblepharon and filiform bands between the alveolar ridges were evident at birth. Pedigree analysis revealed a more severely affected female sib, who died a few minutes after birth with additional manifestations including near complete lip fusion without oral cleft, complete syndactyly in both hands and an omphalocele. Linkage was excluded to the IRF6 gene; a candidate gene implicated in the Van der Woude and popliteal pterygium syndromes, with overlapping features with BPS. To our knowledge, this is the 5th surviving patient with this syndrome in the literature. In this report, we also discuss the proposed pathogenetic mechanisms for BPS and compare our patients with similarly described cases as well as overlapping spectrum of other popliteal pterygium syndromes. Our findings provide further evidence of intrafamilial clinical heterogeneity in families with BPS.

Diffusion tensor imaging of cingulum bundle and corpus callosum in schizophrenia vs. bipolar disorder.

PubMed

Nenadić, Igor; Hoof, Anna; Dietzek, Maren; Langbein, Kerstin; Reichenbach, Jürgen R; Sauer, Heinrich; Güllmar, Daniel

2017-08-30

Both schizophrenia and bipolar disorder show abnormalities of white matter, as seen in diffusion tensor imaging (DTI) analyses of major brain fibre bundles. While studies in each of the two conditions have indicated possible overlap in anatomical location, there are few direct comparisons between the disorders. Also, it is unclear whether phenotypically similar subgroups (e.g. patients with bipolar disorder and psychotic features) might share white matter pathologies or be rather similar. Using region-of-interest (ROI) analysis of white matter with diffusion tensor imaging (DTI) at 3 T, we analysed fractional anisotropy (FA), radial diffusivity (RD), and apparent diffusion coefficient (ADC) of the corpus callosum and cingulum bundle in 33 schizophrenia patients, 17 euthymic (previously psychotic) bipolar disorder patients, and 36 healthy controls. ANOVA analysis showed significant main effects of group for RD and ADC (both elevated in schizophrenia). Across the corpus callosum ROIs, there was not group effect on FA, but for RD (elevated in schizophrenia, lower in bipolar disorder) and ADC (higher in schizophrenia, intermediate in bipolar disorder). Our findings show similarities and difference (some gradual) across regions of the two major fibre tracts implicated in these disorders, which would be consistent with a neurobiological overlap of similar clinical phenotypes. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes—MELAS Syndrome

PubMed Central

Henry, Caitlin; Patel, Neema; Shaffer, William; Murphy, Lillian; Park, Joe

2017-01-01

Background: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder that results in waxing and waning nervous system and muscle dysfunction. MELAS syndrome may overlap with other neurologic disorders but shows distinctive imaging features. Case Report: We present the case of a 28-year-old female with atypical stroke-like symptoms, a strong family history of stroke-like symptoms, and a relapsing-remitting course for several years. We discuss the imaging features distinctive to the case, the mechanism of the disease, typical presentation, imaging diagnosis, and disease management. Conclusion: This case is a classic example of the relapse-remitting MELAS syndrome progression with episodic clinical flares and fluctuating patterns of stroke-like lesions on imaging. MELAS is an important diagnostic consideration when neuroimaging reveals a pattern of disappearing and relapsing cortical brain lesions that may occur in different areas of the brain and are not necessarily limited to discrete vascular territories. Future studies should investigate disease mechanisms at the cellular level and the value of advanced magnetic resonance imaging techniques for a targeted approach to therapy. PMID:29026367

Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes-MELAS Syndrome.

PubMed

Henry, Caitlin; Patel, Neema; Shaffer, William; Murphy, Lillian; Park, Joe; Spieler, Bradley

2017-01-01

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder that results in waxing and waning nervous system and muscle dysfunction. MELAS syndrome may overlap with other neurologic disorders but shows distinctive imaging features. We present the case of a 28-year-old female with atypical stroke-like symptoms, a strong family history of stroke-like symptoms, and a relapsing-remitting course for several years. We discuss the imaging features distinctive to the case, the mechanism of the disease, typical presentation, imaging diagnosis, and disease management. This case is a classic example of the relapse-remitting MELAS syndrome progression with episodic clinical flares and fluctuating patterns of stroke-like lesions on imaging. MELAS is an important diagnostic consideration when neuroimaging reveals a pattern of disappearing and relapsing cortical brain lesions that may occur in different areas of the brain and are not necessarily limited to discrete vascular territories. Future studies should investigate disease mechanisms at the cellular level and the value of advanced magnetic resonance imaging techniques for a targeted approach to therapy.

Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys.

PubMed

Peltekova, Iskra T; Hurteau-Millar, Julie; Armour, Christine M

2014-12-01

Chromosome 10q deletions are rare and phenotypically diverse. Such deletions differ in length and occur in numerous regions on the long arm of chromosome 10, accounting for the wide clinical variability. Commonly reported findings include dysmorphic facial features, microcephaly, developmental delay, and genitourinary abnormalities. Here, we report on a female patient with a novel interstitial 5.54 Mb deletion at 10q24.31-q25.1. This patient had findings in common with a previously reported patient with an overlapping deletion, including renal anomalies and an orofacial cleft, but also demonstrated lobar holoprosencephaly and a Dandy-Walker malformation, features which have not been previously reported with 10q deletions. An analysis of the region deleted in our patient showed numerous genes, such as KAZALD1, PAX2, SEMA4G, ACTRA1, INA, and FGF8, whose putative functions may have played a role in the phenotype seen in our patient. © 2014 Wiley Periodicals, Inc.

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.

PubMed

Kernohan, Kristin D; Dyment, David A; Pupavac, Mihaela; Cramer, Zvi; McBride, Arran; Bernard, Genevieve; Straub, Isabella; Tetreault, Martine; Hartley, Taila; Huang, Lijia; Sell, Erick; Majewski, Jacek; Rosenblatt, David S; Shoubridge, Eric; Mhanni, Aziz; Myers, Tara; Proud, Virginia; Vergano, Samanta; Spangler, Brooke; Farrow, Emily; Kussman, Jennifer; Safina, Nicole; Saunders, Carol; Boycott, Kym M; Thiffault, Isabelle

2017-05-01

Deleterious variants in the same gene present in two or more families with overlapping clinical features provide convincing evidence of a disease-gene association; this can be a challenge in the study of ultrarare diseases. To facilitate the identification of additional families, several groups have created "matching" platforms. We describe four individuals from three unrelated families "matched" by GeneMatcher and MatchMakerExchange. Individuals had microcephaly, developmental delay, epilepsy, and recessive mutations in TRIT1. A single homozygous mutation in TRIT1 associated with similar features had previously been reported in one family. The identification of these individuals provides additional evidence to support TRIT1 as the disease-causing gene and interprets the variants as "pathogenic." TRIT1 functions to modify mitochondrial tRNAs and is necessary for protein translation. We show that dysfunctional TRIT1 results in decreased levels of select mitochondrial proteins. Our findings confirm the TRIT1 disease association and advance the phenotypic and molecular understanding of this disorder. © 2017 Wiley Periodicals, Inc.

A Hierarchical Multiple-Level Approach to the Assessment of Interpersonal Relatedness and Self-Definition: Implications for Research, Clinical Practice, and DSM Planning.

PubMed

Luyten, Patrick; Blatt, Sidney J

2016-01-01

Extant research suggests there is considerable overlap between so-called 2-polarities models of personality development; that is, models that propose that personality development evolves through a dialectic synergistic interaction between 2 key developmental tasks across the life span-the development of self-definition on the one hand and of relatedness on the other. These models have attracted considerable research attention and play a central role in DSM planning. This article provides a researcher- and clinician-friendly guide to the assessment of these personality theories. We argue that current theoretical models focus on issues of relatedness and self-definition at different hierarchically organized levels of analysis; that is (a) at the level of broad personality features, (b) at the motivational level (i.e., the motivational processes underlying the development of these dimensions), and (c) at the level of underlying internal working models or cognitive affective schemas, and the specific interpersonal features and problems in which they are expressed. Implications for further research and DSM planning are outlined.

Xeroderma Pigmentosum.

PubMed

Black, Jennifer O

2016-06-01

Xeroderma pigmentosum (XP) is a rare disorder of defective UV-radiation induced damage repair that is characterized by photosensitivity with easy skin burning following minimal sun exposure, early freckling and development of lentiginous pigmentation along with other features of poikiloderma and a propensity for developing skin cancer at an early age. In this short review, the clinical, pathological, genetic and molecular aspects of XP are reviewed in the current literature. XP encompasses a spectrum of disease that overlaps with other diseases of DNA repair systems. In addition to cutaneous complications, patients are susceptible to eye conditions, neurodegenerative processes, central nervous system tumors and other tumors as a result of UV radiation exposure and its byproducts. Patients with XP frequently experience a shorter life span due to skin cancer and neurodegenerative sequelae, but aggressive preventative measures to minimize UV radiation exposure and damage can improve the course of disease and prolong life. The disease has served as a model for photoaging and UV radiation-induced cancer and has led to a better understanding of cell processes that prevent development of these disease features in normal individuals.

Antisocial violent offenders with attention deficit hyperactivity disorder demonstrate akathisia-like hyperactivity in three-channel actometry.

PubMed

Tuisku, Katinka; Virkkunen, Matti; Holi, Matti; Lauerma, Hannu; Naukkarinen, Hannu; Rimon, Ranan; Wahlbeck, Kristian

2003-01-01

Actometry enables quantitative and qualitative analysis of various hyperactivity disorders. Antisocial violent offenders have demonstrated diurnal increases in motor activity that may be related to attention deficit hyperactivity disorder (ADHD) that often precedes antisocial development. Motor restlessness in ADHD has common features with neuroleptic-induced akathisia. In this study, three-channel actometry was used to compare 15 antisocial violent offenders who had a history of ADHD with 15 healthy control subjects and 10 akathisia patients. The Barnes Akathisia Rating Scale (BARS) was used for clinical evaluation of akathisia symptoms. Ankle movement indices and the ankle-waist ratio differentiated the antisocial patients from the healthy controls significantly, with no overlap, and the same parameters expectedly differentiated the akathisia patients from the healthy controls. The repetitive, rhythmic pattern of akathisia was found in 13 of the 15 antisocial patients. Nine of the antisocial patients scored 2 or 3 (mild to moderate akathisia) on the BARS. Thus, the motor hyperactivity of antisocial ADHD patients has common features with mild akathisia. This may be due to a common hypodopaminergic etiology of ADHD and akathisia.

Clinical and histological findings of cutaneous wound healing in the red-eared slider turtle (Trachemys scripta elegans) housed in unheated outdoor enclosures.

PubMed

Negrini, Joao; Ginel, Pedro J; Novales, Manuel; Guerra, Rafael; Mozos, Elena

2016-10-01

Cutaneous wounds are common in chelonians. The clinical and histological features of wound healing in these species are not well described and this prevents evaluation of new therapies. To describe clinical and histopathological features of cutaneous wound healing in the red-eared slider turtle (Trachemys scripta elegans). Twenty four healthy adult females housed in outdoor facilities with free access to water and exposed to daily variations in temperature. Full thickness 6 mm skin biopsy punch wounds were created in the rear limbs. The turtles were assigned to Group 1 (n = 12 for clinical evaluation) and Group 2 (n = 12 for microscopic study). Group 1 was photographed on Day 1 and weekly, until 28 days post wounding. Wound retraction was expressed as the percentage of perimeter reduction. For Group 2, three skin wounds were sampled at 2, 7, 14, 21, 28, 42, 60 and 135 days post wounding for histological study. The avidin-biotin-peroxidase (ABC) staining method was used to evaluate five commercial antibodies. Wound contraction was limited; crust persisted at least 28 days. Re-epithelialization was complete by Day 14 in many animals; active inflammation persisted until 28 days; connective tissue re-constitution and remodelling was achieved from 42 to 135 days. Antibodies AE1/AE3, Factor VIII, MAC 387, CD3 and NCL-MSA showed cross reactivity with the cell counterpart in turtle tissues. Second intention wound healing progressed slowly and with an indolent behaviour. Microscopically there was marked overlapping of the inflammatory and proliferative phases over a long time period. © 2016 ESVD and ACVD.

The juvenile idiopathic inflammatory myopathies: pathogenesis, clinical and autoantibody phenotypes, and outcomes

PubMed Central

Rider, Lisa G.; Nistala, Kiran

2015-01-01

The aim of this review is to summarize recent advances in the understanding of the clinical and autoantibody phenotypes, their associated outcomes, and the pathogenesis of the juvenile idiopathic inflammatory myopathies (JIIMs). The major clinical and autoantibody phenotypes in children have many features similar to those in adults, and each has distinct demographic and clinical features and associated outcomes. The most common myositis autoantibodies in JIIM patients are anti-p155/140, anti-MJ, and anti-MDA5. Higher mortality has been associated with overlap myositis as well as with the presence of anti-synthetase and anti-MDA5 autoantibodies; a chronic illness course and lipodystrophy have been associated with anti-p155/140 autoantibodies; and calcinosis has been associated with anti-MJ autoantibodies. Histologic abnormalities of JIIMs detectable on muscle biopsy have also been correlated with myositis-specific autoantibodies; for example, patients with anti-MDA5 show low levels of inflammatory infiltrate and muscle damage on biopsy. The first genome-wide association study of adult and juvenile dermatomyositis revealed three novel genetic associations, BLK, PLCL1, and CCL21, and confirmed that the human leukocyte antigen region is the primary risk region for juvenile dermatomyositis. Here we review the well-established pathogenic processes in JIIMs, including the type 1 interferon and endoplasmic reticulum stress pathways. Several novel JIIM-associated inflammatory mediators, such as the innate immune system proteins, myeloid-related peptide 8/14, galectin 9, and eotaxin, have emerged as promising biomarkers of disease. Advances in our understanding of the phenotypes and pathophysiology of the JIIMs are leading to better tools to help clinicians stratify and treat these heterogeneous disorders. PMID:27028907

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)

PubMed Central

Kagami, Masayo; Kurosawa, Kenji; Miyazaki, Osamu; Ishino, Fumitoshi; Matsuoka, Kentaro; Ogata, Tsutomu

2015-01-01

Paternal uniparental disomy 14 (UPD(14)pat) and epimutations and microdeletions affecting the maternally derived 14q32.2 imprinted region lead to a unique constellation of clinical features such as facial abnormalities, small bell-shaped thorax with a coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly, and polyhydramnios. In this study, we performed comprehensive clinical studies in patients with UPD(14)pat (n=23), epimutations (n=5), and microdeletions (n=6), and revealed several notable findings. First, a unique facial appearance with full cheeks and a protruding philtrum and distinctive chest roentgenograms with increased coat-hanger angles to the ribs constituted the pathognomonic features from infancy through childhood. Second, birth size was well preserved, with a median birth length of ±0 SD (range, −1.7 to +3.0 SD) and a median birth weight of +2.3 SD (range, +0.1 to +8.8 SD). Third, developmental delay and/or intellectual disability was invariably present, with a median developmental/intellectual quotient of 55 (range, 29–70). Fourth, hepatoblastoma was identified in three infantile patients (8.8%), and histological examination in two patients showed a poorly differentiated embryonal hepatoblastoma with focal macrotrabecular lesions and well-differentiated hepatoblastoma, respectively. These findings suggest the necessity of an adequate support for developmental delay and periodical screening for hepatoblastoma in the affected patients, and some phenotypic overlap between UPD(14)pat and related conditions and Beckwith–Wiedemann syndrome. On the basis of our previous and present studies that have made a significant contribution to the clarification of underlying (epi)genetic factors and the definition of clinical findings, we propose the name ‘Kagami–Ogata syndrome' for UPD(14)pat and related conditions. PMID:25689926

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.

PubMed

Ranza, E; Huber, C; Levin, N; Baujat, G; Bole-Feysot, C; Nitschke, P; Masson, C; Alanay, Y; Al-Gazali, L; Bitoun, P; Boute, O; Campeau, P; Coubes, C; McEntagart, M; Elcioglu, N; Faivre, L; Gezdirici, A; Johnson, D; Mihci, E; Nur, B G; Perrin, L; Quelin, C; Terhal, P; Tuysuz, B; Cormier-Daire, V

2017-06-01

The group of chondrodysplasia with multiple dislocations includes several entities, characterized by short stature, dislocation of large joints, hand and/or vertebral anomalies. Other features, such as epiphyseal or metaphyseal changes, cleft palate, intellectual disability are also often part of the phenotype. In addition, several conditions with overlapping features are related to this group and broaden the spectrum. The majority of these disorders have been linked to pathogenic variants in genes encoding proteins implicated in the synthesis or sulfation of proteoglycans (PG). In a series of 30 patients with multiple dislocations, we have performed exome sequencing and subsequent targeted analysis of 15 genes, implicated in chondrodysplasia with multiple dislocations, and related conditions. We have identified causative pathogenic variants in 60% of patients (18/30); when a clinical diagnosis was suspected, this was molecularly confirmed in 53% of cases. Forty percent of patients remain without molecular etiology. Pathogenic variants in genes implicated in PG synthesis are of major importance in chondrodysplasia with multiple dislocations and related conditions. The combination of hand features, growth failure severity, radiological aspects of long bones and of vertebrae allowed discrimination among the different conditions. We propose key diagnostic clues to the clinician. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Childhood and Current Autistic Features in Adolescents with Schizotypal Personality Disorder

PubMed Central

Esterberg, Michelle L.; Trotman, Hanan D.; Brasfield, Joy L.; Compton, Michael T.; Walker, Elaine F.

2008-01-01

The diagnostic boundaries between autistic- and schizophrenia-spectrum disorders have varied over the years, and some overlap in diagnostic criteria persists. The present study examined childhood and current signs of autistic disorder (AD) in adolescents with schizotypal personality disorder (SPD) or other personality disorders, as well as healthy controls. A structured interview was administered to rate participants’ current symptoms. Participants’ guardians were interviewed with the Autism Diagnostic Inventory-Revised (ADI-R), a clinical assessment of childhood and current autistic signs. Compared to both the other personality-disordered and healthy groups, adolescents with SPD were rated as having significantly more impairment on childhood and current social functioning, and having more unusual interests and behaviors. For the entire sample, impaired childhood social functioning and unusual interests and behaviors were associated with higher negative symptom scores. Current impairments in social functioning, unusual interests and behaviors, and communication were also linked with greater negative symptoms. However, neither childhood nor current autistic features significantly predicted later conversion to an Axis I psychotic disorder over the course of three years of follow-up. The findings indicate that past and current autistic signs are more common in adolescents with SPD, but neither current nor childhood autistic features are linked with conversion to psychosis. PMID:18554872

Undifferentiated (embryonal) liver sarcoma: synchronous and metachronous occurrence with neoplasms other than mesenchymal liver hamartoma.

PubMed

Gasljevic, Gorana; Lamovec, Janez; Jancar, Janez

2011-08-01

Undifferentiated (embryonal) liver sarcoma (UELS) is a rare tumor that typically occurs in children. The association of UELS with neoplasm other than mesenchymal liver hamartoma is exceedingly rare. The aim of the study was to report 3 cases of UELS, 2 of them being interesting because of their association with another neoplasm, vaginal embryonal rhabdomyosarcoma in a teenage girl and B-acute lymphoblastic leukemia in a middle-aged woman. Besides, one of our cases of UELS, in a 58-year-old woman, is an extremely rare presentation of such a tumor in a middle-aged adult. The patient's clinical features, therapy, and pathologic results were reviewed; immunohistochemical analysis and, in 2 cases, electron microscopy were performed. In this study, all 3 patients were females aged 13, 13, and 58 years. Histopathologic evaluation of resected liver tumors confirmed the diagnosis of UELS in all of them. In 2 of the cases, metachronous occurrence of UELS with vaginal embryonal rhabdomyosarcoma in a teenage girl and B-acute lymphoblastic leukemia in a middle-aged woman is described. Careful clinical analysis, histologic studies, and immunohistochemistry are mandatory to distinguish UELS from other hepatic malignancies with similar or overlapping features and to exclude the possibility of other tumors that may be considered in the differential diagnosis. The association of UELS with another neoplasm is exceedingly rare. Copyright © 2011 Elsevier Inc. All rights reserved.

Food engorgement in 35 dogs (2009-2013) compared with 36 dogs with gastric dilation and volvulus.

PubMed

Smart, Lisa; Reese, Shona; Hosgood, Giselle

2017-11-25

The clinical features and management of food engorgement (FE) in dogs have not been previously described. This retrospective observational study describes characteristics and outcome of 35 dogs with FE, and compares features on presentation to 36 dogs with gastric dilation and volvulus (GDV). Cases were retrospectively reviewed for history, clinical findings and outcome. Gastric distension was measured by caudal gastric margin (CGM), level with lumbar vertebrae, on a lateral abdominal radiograph. Frequent characteristics of dogs with FE included tachycardia, tachypnoea, hyperproteinaemia, increased base excess (BE), mild hypernatraemia and hyperlactataemia. There was overlap in CGM between dogs with GDV (CGM range L3 to >L6) and dogs with FE (CGM range

Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature.

PubMed

Geneviève, D; Le Merrer, M; Feingold, J; Munnich, A; Maroteaux, P; Cormier-Daire, V

2008-04-15

Metatropic dysplasia (MD-OMIM: 156530 and 250600) is a rare chondrodysplasia characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis, first described in 1893. Up until now, 81 other patients have been reported. The phenotypic variability of MD has led to a classification based on radiological anomalies dividing into three different types: a lethal autosomal recessive form, an autosomal recessive non-lethal form and a non-lethal autosomal dominant form with less severe radiographs manifestations and a better clinical outcome. Here, we report on clinical and radiological features of 19 novel MD patients. We describe new radiological features, including precocious calcification of hyoid and cricoid cartilage, irregular and squared-off calcaneal bones and severe hypoplasia of the anterior portion of first cervical vertebrae. In addition, the observation of an overlap between the autosomal recessive non-lethal form and the non-lethal autosomal dominant form, the rarity of sibship recurrences and the observation of vertical transmissions of MD in the literature argue in favor of an autosomal dominant mode of inheritance for all MD types. This hypothesis is reinforced by the use of the statistical single ascertainment method that rejects the hypothesis of an autosomal recessive mode of inheritance responsible for MD. Therefore, we propose that recurrence in sibs is due to gonadal mosaicism. Copyright 2008 Wiley-Liss, Inc.

Neutropenia in primary immunodeficiency

PubMed Central

Sokolic, Robert

2016-01-01

Purpose of review Neutropenia is a feature of several primary immunodeficiency diseases (PIDDs). Because of the diverse pathophysiologies of the PIDDs and the rarity of each disorder, data are often lacking, leading to the necessity of empiric treatment. Recent developments in the understanding of neutropenia in several of the PIDDs make a review of the data timely. Recent findings The category of severe congenital neutropenia continues to expand. Mutations in G6PC3 have been identified as the cause of neutropenia in a minority of previously molecularly undefined cases. Recent advances have broadened our understanding of the pathophysiology and the clinical expression of this disorder. A possible function of the C16orf57 gene has been hypothesized that may explain the clinical overlap between Clerucuzio-type poikiloderma with neutropenia and other marrow diseases. Plerixafor has been shown to be a potentially useful treatment in the warts, hypogammaglobulinemia, infection, and myelokathexis syndrome. Investigations of patients with adenosine deaminase deficient severe combined immunodeficiency have identified neutropenia, and particularly susceptibility to myelotoxins, as a feature of this disorder. Granulocyte-colony stimulating factor is the treatment of choice for neutropenia in PIDD, whereas hematopoietic cell transplantation is the only curative option. Summary The number of PIDDs associated with neutropenia has increased, as has our understanding of the range of phenotypes. Additional data and hypotheses have been generated helping to explain the diversity of presentations of neutropenia in PIDDs. PMID:23196894

[A research in speech endpoint detection based on boxes-coupling generalization dimension].

PubMed

Wang, Zimei; Yang, Cuirong; Wu, Wei; Fan, Yingle

2008-06-01

In this paper, a new calculating method of generalized dimension, based on boxes-coupling principle, is proposed to overcome the edge effects and to improve the capability of the speech endpoint detection which is based on the original calculating method of generalized dimension. This new method has been applied to speech endpoint detection. Firstly, the length of overlapping border was determined, and through calculating the generalized dimension by covering the speech signal with overlapped boxes, three-dimension feature vectors including the box dimension, the information dimension and the correlation dimension were obtained. Secondly, in the light of the relation between feature distance and similarity degree, feature extraction was conducted by use of common distance. Lastly, bi-threshold method was used to classify the speech signals. The results of experiment indicated that, by comparison with the original generalized dimension (OGD) and the spectral entropy (SE) algorithm, the proposed method is more robust and effective for detecting the speech signals which contain different kinds of noise in different signal noise ratio (SNR), especially in low SNR.

Face (and Nose) Priming for Book: The Malleability of Semantic Memory

PubMed Central

Coane, Jennifer H.; Balota, David A.

2010-01-01

There are two general classes of models of semantic structure that support semantic priming effects. Feature-overlap models of semantic priming assume that shared features between primes and targets are critical (e.g., cat-DOG). Associative accounts assume that contextual co-occurrence is critical and that the system is organized along associations independent of featural overlap (e.g., leash-DOG). If unrelated concepts can become related as a result of contextual co-occurrence, this would be more supportive of associative accounts and provide insight into the nature of the network underlying “semantic” priming effects. Naturally co-occurring recent associations (e.g., face-BOOK) were tested under conditions that minimize strategic influences (i.e., short stimulus onset asynchrony, low relatedness proportion) in a semantic priming paradigm. Priming for new associations did not differ from the priming found for pre-existing relations (e.g., library-BOOK). Mediated priming (e.g., nose-BOOK) was also found. These results suggest that contextual associations can result in the reorganization of the network that subserves “semantic” priming effects. PMID:20494866

Integrating Early Intervention for Borderline Personality Disorder and Mood Disorders.

PubMed

Chanen, Andrew M; Berk, Michael; Thompson, Katherine

2016-01-01

Borderline personality disorder (BPD) has been demonstrated to be a reliable and valid construct in young people (adolescents and young adults). Both borderline- and mood-related psychopathology become clinically apparent from puberty through to young adulthood, frequently co-occur, can reinforce one another, and can be difficult to differentiate clinically. This Gordian knot of overlapping clinical features, common risk factors, and precursors to both BPD and mood disorders complicates clinical assessment, prevention, and treatment. Regardless of whether an individual crosses an arbitrary diagnostic threshold, a considerable proportion of young people with borderline- and mood-related psychopathology will develop significant and persistent functional, vocational, and interpersonal impairment and disability during this critical risk and developmental period. There is a clear need for early intervention, but spurious diagnostic certainty risks stigma, misapplication of diagnostic labels, inappropriate treatment, and unfavorable outcomes. This article aims to integrate early intervention for BPD and mood disorders in the clinical context of developmental and phenomenological change and evolution. "Clinical staging," similar to disease staging in general medicine, is presented as a pragmatic, heuristic, and trans-diagnostic framework to guide prevention and intervention. It acknowledges that the early stages of these disorders cannot be disentangled sufficiently to allow for disorder-specific preventive measures and early interventions. Clinical staging defines an individual's location along the continuum of the evolving temporal course of a disorder. Such staging aids differentiation of early or milder clinical phenomena from those that accompany illness progression and chronicity, and suggests the application of appropriate and proportionate intervention strategies.

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.

Song matching, overlapping, and switching in the banded wren: the sender’s perspective

PubMed Central

Vehrencamp, Sandra L.; Hall, Michelle L.; Bohman, Erin R.; Depeine, Catherine D.; Dalziell, Anastasia H.

2008-01-01

Interpreting receiver responses to on-territory playback of aggressive signals is problematic. One solution is to combine such receiver-perspective experiments with a sender-perspective experiment that allows subjects to demonstrate how their choice of singing strategies is associated with their approach behavior. Here we report the results of a sender-perspective study on the banded wren (Thryothorus pleurostictus), and combine information on context and results of previous receiver-perspective experiments to clarify function. Territorial males were presented with a 5-min playback consisting of song types present in their repertoire. We assessed the degree to which the subjects’ song matching rate, overlapping rate, and song-type versatility were correlated with their approach latency, closeness of approach, latency to first retreat, and time spent close to the speaker. Male age, breeding stage, and features of the playback stimuli were also considered. Song matching was associated with rapid and close approach, consistent with the receiver-perspective interpretation of type matching as a conventional signal of aggressive motivation. Overlapping was associated with earlier retreat, and together with the aversive receiver response to our previous overlapping playback experiment suggests that overlapping is a defensive withdrawal signal. High versatility was associated with slower first retreat from the speaker and high levels of reciprocal matching between subject and playback. Males with fledglings sang with particularly low versatility and approached the speaker aggressively, whereas males with nestlings overlapped more and retreated quickly. Finally, older males matched more but overlapped less. PMID:18392112

Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis

PubMed Central

Hinks, Anne; Eyre, Steve; Ke, Xiayi; Barton, Anne; Martin, Paul; Flynn, Edward; Packham, Jon; Worthington, Jane; Thomson, Wendy

2010-01-01

Background Genome-wide association studies (GWAS) have been extremely successful in the search for susceptibility risk factors for complex genetic autoimmune diseases. As more studies are published, evidence is emerging of considerable overlap of loci between these diseases. In juvenile idiopathic arthritis (JIA), another complex genetic autoimmune disease, the strategy of using information from autoimmune disease GWAS or candidate gene studies to help in the search for novel JIA susceptibility loci has been successful, with confirmed association with two genes, PTPN22 and IL2RA. Rheumatoid arthritis (RA) is an autoimmune disease that shares similar clinical and pathological features with JIA and, therefore, recently identified confirmed RA susceptibility loci are also excellent JIA candidate loci. Objective To determine the overlap of disease susceptibility loci for RA and JIA. Methods Fifteen single nucleotide polymorphisms (SNPs) at nine RA-associated loci were genotyped in Caucasian patients with JIA (n=1054) and controls (n=3531) and tested for association with JIA. Allele and genotype frequencies were compared between cases and controls using the genetic analysis software, PLINK. Results Two JIA susceptibility loci were identified, one of which was a novel JIA association (STAT4) and the second confirmed previously published associations of the TRAF1/C5 locus with JIA. Weak evidence of association of JIA with three additional loci (Chr6q23, KIF5A and PRKCQ) was also obtained, which warrants further investigation. Conclusion All these loci are good candidates in view of the known pathogenesis of JIA, as genes within these regions (TRAF1, STAT4, TNFAIP3, PRKCQ) are known to be involved in T-cell receptor signalling or activation pathways. PMID:19674979

Cervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuse.

PubMed

Hill, Suvimol C; Dwyer, Andrew J; Kaler, Stephen G

2012-11-01

Menkes disease is an X-linked recessive disorder of copper transport caused by mutations in ATP7A, a copper-transporting ATPase. Certain radiologic findings reported in this condition overlap with those caused by child abuse. However, cervical spine defects simulating cervical spine fracture, a known result of nonaccidental pediatric trauma, have not been reported previously in this illness. To assess the frequency of cervical spine anomalies in Menkes disease after discovery of an apparent C2 posterior arch defect in a child participating in a clinical trial. We examined cervical spine radiographs obtained in 35 children with Menkes disease enrolled in a clinical trial at the National Institutes of Health Clinical Center. Four of the 35 children with Menkes disease had apparent C2 posterior arch defects consistent with spondylolysis or incomplete/delayed ossification. Defects in C2 were found in 11% of infants and young children with Menkes disease. Discovery of cervical spine defects expands the spectrum of radiologic findings associated with this condition. As with other skeletal abnormalities, this feature simulates nonaccidental trauma. In the context of Menkes disease, suspicions of child abuse should be considered cautiously and tempered by these findings to avoid unwarranted accusations.

Defining Features of Unhealthy Exercise Associated with Disordered Eating and Eating Disorder Diagnoses

PubMed Central

Holland, Lauren A.; Brown, Tiffany A.; Keel, Pamela K.

2013-01-01

Objectives The current study sought to compare different features of unhealthy exercise on associations with disordered eating and their ability to identify individuals with eating disorders. A secondary aim of the study was to compare prevalence and overlap of different aspects of unhealthy exercise and potential differences in their gender distribution. Design Cross-sectional epidemiological study. Methods A community-based sample of men (n=592) and women (n=1468) completed surveys of health and eating patterns, including questions regarding exercise habits and eating disorder symptoms. Results Compulsive and compensatory features of exercise were the best predictors of disordered eating and eating disorder diagnoses compared to exercise that was excessive in quantity. Further, compulsive and compensatory aspects of unhealthy exercise represented overlapping, yet distinct qualities in both men and women. Conclusions Including the compulsive quality among the defining features of unhealthy exercise may improve identification of eating disorders, particularly in men. Results suggest that the compensatory aspect of unhealthy exercise is not adequately captured by the compulsive aspect of unhealthy exercise. Thus, interventions that target unhealthy exercise behaviors among high-risk individuals, such as athletes, may benefit from addressing both the compulsive and compensatory aspects of unhealthy exercise. Future prospective longitudinal studies will aid in determining the direction of the association between these features of unhealthy exercise and the onset of eating pathology. PMID:24391457

Clinical, cognitive and anatomical evolution from nonfluent progressive aphasia to corticobasal syndrome: a case report.

PubMed

Gorno-Tempini, Maria Luisa; Murray, Ryan C; Rankin, Katherine P; Weiner, Michael W; Miller, Bruce L

2004-12-01

Recent clinical and pathological studies have suggested that frontotemporal lobar degeneration (FTLD) and corticobasal syndrome (CBS) show clinical and pathological overlap. We present four years of longitudinal clinical, cognitive and anatomical data in the case of a 56-year-old woman, AS, whose clinical picture evolved from FTLD to CBS. For the first three years, AS showed a progressive speech and language disorder compatible with a diagnosis of the nonfluent aphasia variant of FTLD. At year four, 10 years after her first symptom, AS developed the classical clinical signs of CBS, including alien limb phenomenon and dystonia. Voxel-based morphometry (VBM) applied to AS's four annual scans showed progression of atrophy from the inferior posterior frontal gyrus, to the left insula and finally to the medial frontal lobe. This case demonstrates the clinical overlap between FTLD and CBS and shows that the two can appear in the same patient at different stages of the disease in relation to the progression of anatomical damage.

Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.

PubMed

Matsunoshita, Natsuki; Nozu, Kandai; Shono, Akemi; Nozu, Yoshimi; Fu, Xue Jun; Morisada, Naoya; Kamiyoshi, Naohiro; Ohtsubo, Hiromi; Ninchoji, Takeshi; Minamikawa, Shogo; Yamamura, Tomohiko; Nakanishi, Koichi; Yoshikawa, Norishige; Shima, Yuko; Kaito, Hiroshi; Iijima, Kazumoto

2016-02-01

Phenotypic overlap exists among type III Bartter syndrome (BS), Gitelman syndrome (GS), and pseudo-BS/GS (p-BS/GS), which are clinically difficult to distinguish. We aimed to clarify the differences between these diseases, allowing accurate diagnosis based on their clinical features. A total of 163 patients with genetically defined type III BS (n = 30), GS (n = 90), and p-BS/GS (n = 43) were included. Age at diagnosis, sex, body mass index, estimated glomerular filtration rate, and serum and urine electrolyte concentrations were determined. Patients with p-BS/GS were significantly older at diagnosis than those with type III BS and GS. Patients with p-BS/GS included a significantly higher percentage of women and had a lower body mass index and estimated glomerular filtration rate than did patients with GS. Although hypomagnesemia and hypocalciuria were predominant biochemical findings in patients with GS, 17 and 23% of patients with type III BS and p-BS/GS, respectively, also showed these abnormalities. Of patients with type III BS, GS, and p-BS/GS, 40, 12, and 63%, respectively, presented with chronic kidney disease. This study clarified the clinical differences between BS, GS, and p-BS/GS for the first time, which will help clinicians establish differential diagnoses for these three conditions.

Clinical and genetic characterization of leukoencephalopathies in adults.

PubMed

Lynch, David S; Rodrigues Brandão de Paiva, Anderson; Zhang, Wei Jia; Bugiardini, Enrico; Freua, Fernando; Tavares Lucato, Leandro; Macedo-Souza, Lucia Inês; Lakshmanan, Rahul; Kinsella, Justin A; Merwick, Aine; Rossor, Alexander M; Bajaj, Nin; Herron, Brian; McMonagle, Paul; Morrison, Patrick J; Hughes, Deborah; Pittman, Alan; Laurà, Matilde; Reilly, Mary M; Warren, Jason D; Mummery, Catherine J; Schott, Jonathan M; Adams, Matthew; Fox, Nick C; Murphy, Elaine; Davagnanam, Indran; Kok, Fernando; Chataway, Jeremy; Houlden, Henry

2017-05-01

Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement disorders and upper motor neuron signs. Mutations in at least 60 genes can lead to leukoencephalopathy with often overlapping clinical and radiological presentations. For these reasons, patients with genetic leukoencephalopathies often endure a long diagnostic odyssey before receiving a definitive diagnosis or may receive no diagnosis at all. In this study, we used focused and whole exome sequencing to evaluate a cohort of undiagnosed adult patients referred to a specialist leukoencephalopathy service. In total, 100 patients were evaluated using focused exome sequencing of 6100 genes. We detected pathogenic or likely pathogenic variants in 26 cases. The most frequently mutated genes were NOTCH3, EIF2B5, AARS2 and CSF1R. We then carried out whole exome sequencing on the remaining negative cases including four family trios, but could not identify any further potentially disease-causing mutations, confirming the equivalence of focused and whole exome sequencing in the diagnosis of genetic leukoencephalopathies. Here we provide an overview of the clinical and genetic features of these disorders in adults. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain.

Generation of 3D synthetic breast tissue

NASA Astrophysics Data System (ADS)

Elangovan, Premkumar; Dance, David R.; Young, Kenneth C.; Wells, Kevin

2016-03-01

Virtual clinical trials are an emergent approach for the rapid evaluation and comparison of various breast imaging technologies and techniques using computer-based modeling tools. A fundamental requirement of this approach for mammography is the use of realistic looking breast anatomy in the studies to produce clinically relevant results. In this work, a biologically inspired approach has been used to simulate realistic synthetic breast phantom blocks for use in virtual clinical trials. A variety of high and low frequency features (including Cooper's ligaments, blood vessels and glandular tissue) have been extracted from clinical digital breast tomosynthesis images and used to simulate synthetic breast blocks. The appearance of the phantom blocks was validated by presenting a selection of simulated 2D and DBT images interleaved with real images to a team of experienced readers for rating using an ROC paradigm. The average areas under the curve for 2D and DBT images were 0.53+/-.04 and 0.55+/-.07 respectively; errors are the standard errors of the mean. The values indicate that the observers had difficulty in differentiating the real images from simulated images. The statistical properties of simulated images of the phantom blocks were evaluated by means of power spectrum analysis. The power spectrum curves for real and simulated images closely match and overlap indicating good agreement.

Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome.

PubMed

Tumiene, Birute; Čiuladaitė, Ž; Preikšaitienė, E; Mameniškienė, R; Utkus, A; Kučinskas, V

2017-11-01

Proper epigenetic regulation processes are crucial in the normal development of the human brain. An ever-increasing group of neurodevelopmental disorders due to derangements of epigenetic regulation involve both microdeletion and monogenic syndromes. Some of these syndromes have overlapping clinical phenotypes due to haploinsufficiency-sensitive genes involved in microdeletions. It was shown recently that the ZMYND11 gene has important functions in epigenetic regulation as an unconventional transcription co-repressor of highly expressed genes, possibly acting in the repression of cryptic transcription from gene bodies. The aim of our study was to compare the clinical phenotypes of patients with 10p15.3 deletions with the phenotypes of patients with loss-of-function ZMYND11 mutations. The results of our study further confirm that the ZMYND11 gene is the critical gene for the clinical phenotype of 10p15.3 microdeletion involving the terminal ~4 Mb of chromosome 10p. In addition, accumulating clinical data allow for further characterisation of this syndrome, including neurodevelopmental disorder, characteristic dysmorphic features and some other more frequent symptoms, such as behavioural disturbances, hypotonia, seizures, low birth weight, short stature in those older than 10 years of age, genitourinary malformations and recurrent infections.

NITPICK: peak identification for mass spectrometry data

PubMed Central

Renard, Bernhard Y; Kirchner, Marc; Steen , Hanno; Steen, Judith AJ; Hamprecht , Fred A

2008-01-01

Background The reliable extraction of features from mass spectra is a fundamental step in the automated analysis of proteomic mass spectrometry (MS) experiments. Results This contribution proposes a sparse template regression approach to peak picking called NITPICK. NITPICK is a Non-greedy, Iterative Template-based peak PICKer that deconvolves complex overlapping isotope distributions in multicomponent mass spectra. NITPICK is based on fractional averagine, a novel extension to Senko's well-known averagine model, and on a modified version of sparse, non-negative least angle regression, for which a suitable, statistically motivated early stopping criterion has been derived. The strength of NITPICK is the deconvolution of overlapping mixture mass spectra. Conclusion Extensive comparative evaluation has been carried out and results are provided for simulated and real-world data sets. NITPICK outperforms pepex, to date the only alternate, publicly available, non-greedy feature extraction routine. NITPICK is available as software package for the R programming language and can be downloaded from . PMID:18755032

FPFH-based graph matching for 3D point cloud registration

NASA Astrophysics Data System (ADS)

Zhao, Jiapeng; Li, Chen; Tian, Lihua; Zhu, Jihua

2018-04-01

Correspondence detection is a vital step in point cloud registration and it can help getting a reliable initial alignment. In this paper, we put forward an advanced point feature-based graph matching algorithm to solve the initial alignment problem of rigid 3D point cloud registration with partial overlap. Specifically, Fast Point Feature Histograms are used to determine the initial possible correspondences firstly. Next, a new objective function is provided to make the graph matching more suitable for partially overlapping point cloud. The objective function is optimized by the simulated annealing algorithm for final group of correct correspondences. Finally, we present a novel set partitioning method which can transform the NP-hard optimization problem into a O(n3)-solvable one. Experiments on the Stanford and UWA public data sets indicates that our method can obtain better result in terms of both accuracy and time cost compared with other point cloud registration methods.

B-cell lymphomas with concurrent IGH-BCL2 and MYC rearrangements are aggressive neoplasms with clinical and pathologic features distinct from Burkitt lymphoma and diffuse large B-cell lymphoma.

PubMed

Snuderl, Matija; Kolman, Olga K; Chen, Yi-Bin; Hsu, Jessie J; Ackerman, Adam M; Dal Cin, Paola; Ferry, Judith A; Harris, Nancy Lee; Hasserjian, Robert P; Zukerberg, Lawrence R; Abramson, Jeremy S; Hochberg, Ephraim P; Lee, Hang; Lee, Alfred I; Toomey, Christiana E; Sohani, Aliyah R

2010-03-01

B-cell lymphomas with concurrent IGH-BCL2 and MYC rearrangements, also known as "double-hit" lymphomas (DHL), are rare neoplasms characterized by highly aggressive clinical behavior, complex karyotypes, and a spectrum of pathologic features overlapping with Burkitt lymphoma (BL), diffuse large B-cell lymphoma (DLBCL) and B-lymphoblastic lymphoma/leukemia (B-LBL). The clinical and pathologic spectrum of this rare entity, including comparison to other high-grade B-cell neoplasms, has not been well defined. We conducted a retrospective analysis of clinical and pathologic features of 20 cases of DHL seen at our institution during a 5-year period. In addition, we carried out case-control comparisons of DHL with BL and International Prognostic Index (IPI)-matched DLBCL. The 11 men and 9 women had a median age of 63.5 years (range 32 to 91). Six patients had a history of grade 1 to 2 follicular lymphoma; review of the prior biopsy specimens in 2 of 5 cases revealed blastoid morphology. Eighteen patients had Ann Arbor stage 3 or 4 disease and all had elevated serum lactate dehydrogenase (LDH) levels at presentation. Extranodal disease was present in 17/20 (85%), bone marrow involvement in 10/17 (59%) and central nervous system (CNS) disease in 5/11 (45%). Nineteen patients were treated with combination chemotherapy, of whom 18 received rituximab and 14 received CNS-directed therapy. Fourteen patients (70%) died within 8 months of diagnosis. Median overall survival in the DHL group (4.5 mo) was inferior to both BL (P=0.002) and IPI-matched DLBCL (P=0.04) control patients. Twelve DHL cases (60%) were classified as B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and BL, 7 cases (35%) as DLBCL, not otherwise specified, and 1 case as B-LBL. Distinguishing features from BL included expression of Bcl2 (P<0.0001), Mum1/IRF4 (P=0.006), Ki-67 <95% (P<0.0001), and absence of EBV-EBER (P=0.006). DHL commonly contained the t(8;22) rather than the t(8;14) seen in most BL controls (P=0.001), and exhibited a higher number of chromosomal aberrations (P=0.0009). DHL is a high-grade B-cell neoplasm with a poor prognosis, resistance to multiagent chemotherapy, and clinical and pathologic features distinct from other high-grade B-cell neoplasms. Familiarity with the morphologic and immunophenotypic spectrum of DHL is important in directing testing to detect concurrent IGH-BCL2 and MYC rearrangements when a karyotype is unavailable. The aggressive clinical behavior and combination of genetic abnormalities seen in these cases may warrant categorization as a separate entity in future classifications and call for novel therapeutic approaches.

The General Assessment of Personality Disorder (GAPD) as an instrument for assessing the core features of personality disorders.

PubMed

Berghuis, Han; Kamphuis, Jan H; Verheul, Roel; Larstone, Roseann; Livesley, John

2013-01-01

This study presents a psychometric evaluation of the General Assessment of Personality Disorder (GAPD), a self-report questionnaire for assessing the core components of personality dysfunction on the basis of Livesley's (2003) adaptive failure model. Analysis of samples from a general (n = 196) and a clinical population (n = 280) from Canada and the Netherlands, respectively, found a very similar two-component structure consistent with the two core components of personality dysfunction proposed by the model, namely, self-pathology and interpersonal dysfunction. Moreover, the GAPD discriminated between patients diagnosed with and without Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV-TR) personality disorder(s) and demonstrated discriminative power in detecting the severity of personality pathology. Correlations with a DSM-IV symptom measure and a pathological traits model suggest partial conceptual overlap. Although further testing is indicated, the present findings suggest the GAPD is suitable for assessing the core components of personality dysfunction. It may contribute to a two-step integrated assessment of personality pathology that assesses both personality dysfunction and personality traits. The core features of personality disorder can be defined as disorders in the self and in the capacity for interpersonal functioning. A clinically useful operationalization of disordered functioning of personality is needed to determine the maladaptivity of personality traits. An integrated assessment of personality (dys)functioning and personality traits provides a more comprehensive clinical picture of the patient, which may aid treatment planning. Copyright © 2012 John Wiley & Sons, Ltd.

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

PubMed Central

Martinelli, Simone; De Luca, Alessandro; Stellacci, Emilia; Rossi, Cesare; Checquolo, Saula; Lepri, Francesca; Caputo, Viviana; Silvano, Marianna; Buscherini, Francesco; Consoli, Federica; Ferrara, Grazia; Digilio, Maria C.; Cavaliere, Maria L.; van Hagen, Johanna M.; Zampino, Giuseppe; van der Burgt, Ineke; Ferrero, Giovanni B.; Mazzanti, Laura; Screpanti, Isabella; Yntema, Helger G.; Nillesen, Willy M.; Savarirayan, Ravi; Zenker, Martin; Dallapiccola, Bruno; Gelb, Bruce D.; Tartaglia, Marco

2010-01-01

RAS signaling plays a key role in controlling appropriate cell responses to extracellular stimuli and participates in early and late developmental processes. Although enhanced flow through this pathway has been established as a major contributor to oncogenesis, recent discoveries have revealed that aberrant RAS activation causes a group of clinically related developmental disorders characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, ectodermal and musculoskeletal anomalies, and increased risk for certain malignancies. Here, we report that heterozygous germline mutations in CBL, a tumor-suppressor gene that is mutated in myeloid malignancies and encodes a multivalent adaptor protein with E3 ubiquitin ligase activity, can underlie a phenotype with clinical features fitting or partially overlapping Noonan syndrome (NS), the most common condition of this disease family. Independent CBL mutations were identified in two sporadic cases and two families from among 365 unrelated subjects who had NS or suggestive features and were negative for mutations in previously identified disease genes. Phenotypic heterogeneity and variable expressivity were documented. Mutations were missense changes altering evolutionarily conserved residues located in the RING finger domain or the linker connecting this domain to the N-terminal tyrosine kinase binding domain, a known mutational hot spot in myeloid malignancies. Mutations were shown to affect CBL-mediated receptor ubiquitylation and dysregulate signal flow through RAS. These findings document that germline mutations in CBL alter development to cause a clinically variable condition that resembles NS and that possibly predisposes to malignancies. PMID:20619386

Clinical features, cytology and bacterial culture results in dogs with and without cheilitis and comparison of three sampling techniques.

PubMed

Doelle, Maren; Loeffler, Anette; Wolf, Katharina; Kostka, Veit; Linek, Monika

2016-06-01

Cheilitis is a common presentation in dogs associated with a variety of skin diseases and often complicated by microbial infections. To describe and compare clinical and cytological features and bacterial culture results from the lower lips of dogs with cheilitis (as compared to healthy controls), and to evaluate three cytology sampling techniques for their abilities to differentiate between the groups. Fifty six dogs with cheilitis and 54 controls. Anatomy and clinical signs of the lower lip were recorded. Cytology samples taken by tape strip, direct impression and swabs rolled over skin were scored semiquantitatively for microorganisms, inflammatory cells and keratinocytes. Cytology scores were correlated with semiquantitative bacterial culture scores. Pure breeds, frequency of lip folds and all cytology scores except keratinocytes were higher in dogs with cheilitis than in controls, but a substantial overlap was seen in all microorganisms between the groups. Hypersensitivity disorders were diagnosed in 40 of 56 dogs with cheilitis. The tape strip technique yielded the greatest differences between groups. Bacterial growth was reported in 100% of dogs with cheilitis and in 93% of the controls. Pathogens such as Staphylococcus pseudintermedius, Escherichia coli and Pseudomonas spp were found more frequently in dogs with cheilitis. Cytology and bacterial culture were poorly correlated. Cheilitis was associated with primary hypersensitivity disorders and the presence of a lip fold was a predisposing factor. Results of aerobic culture were similar to prior studies on pyoderma of other body sites, except for higher rates of Pseudomonas spp. isolation. © 2016 ESVD and ACVD.

Prevalence and features of peripheral neuropathy in Parkinson's disease patients under different therapeutic regimens.

PubMed

Mancini, F; Comi, C; Oggioni, G D; Pacchetti, C; Calandrella, D; Coletti Moja, M; Riboldazzi, G; Tunesi, S; Dal Fante, M; Manfredi, L; Lacerenza, M; Cantello, R; Antonini, A

2014-01-01

Recent reports suggest increased frequency of peripheral neuropathy (PN) in Parkinson's disease (PD) patients on levodopa compared with age-matched controls particularly during continuous levodopa delivery by intestinal infusion (CLDII). The aim of this study is to compare frequency, clinical features, and outcome of PN in PD patients undergoing different therapeutic regimens. Three groups of consecutive PD patients, 50 on intestinal levodopa (CLDII), 50 on oral levodopa (O-LD) and 50 on other dopaminergic treatment (ODT), were enrolled in this study to assess frequency of PN using clinical and neurophysiological parameters. A biochemical study of all PN patients was performed. Frequency of PN of no evident cause was 28% in CLDII, 20% in O-LD, and 6% in ODT patients. Clinically, 71% of CLDII patients and all O-LD and ODT PN patients displayed a subacute sensory PN. In contrast, 29% of CLDII patients presented acute motor PN. Levodopa daily dose, vitamin B12 (VB12) and homocysteine (hcy) levels differed significantly in patients with PN compared to patients without PN. Our findings support the relationship between levodopa and PN and confirm that an imbalance in VB12/hcy may be a key pathogenic factor. We suggest two different, possibly overlapping mechanisms of PN in patients on CDLII: axonal degeneration due to vitamin deficiency and inflammatory damage. Whether inflammatory damage is triggered by vitamin deficiency and/or by modifications in the intestinal micro-environment should be further explored. Proper vitamin supplementation may prevent peripheral damage in most cases. Copyright © 2013 Elsevier Ltd. All rights reserved.

Oral-facial-digital syndrome type 1 with hypothalamic hamartoma and Dandy-Walker malformation.

PubMed

Azukizawa, Takayuki; Yamamoto, Masahito; Narumiya, Seirou; Takano, Tomoyuki

2013-04-01

We report a 1-year-old girl with oral-facial-digital syndrome type 1 with multiple malformations of the oral cavity, face, digits, and central nervous system, including agenesis of the corpus callosum, the presence of intracerebral cysts, and agenesis of the cerebellar vermis, which is associated with the subarachnoid space separating the medial sides of the cerebellar hemispheres. This child also had a hypothalamic hamartoma and a Dandy-Walker malformation, which have not been reported previously. The clinical features, including cerebral malformations, in several types of oral-facial-digital syndrome, overlap with each other. Further accumulation of new case reports and identification of new genetic mutations in oral-facial-digital syndrome may provide novel and important insights into the genetic mechanisms of this syndrome. Copyright © 2013 Elsevier Inc. All rights reserved.

Palatal insufficiency as isolated sign of GQ1b antibody syndrome.

PubMed

Verhelst, Helene; Maes, Michaela; Deblaere, Karel; Van Coster, Rudy

2011-04-01

Antiganglioside GQ1b antibodies mediate a continuum of disorders with overlapping features, fostering the concept of anti-GQ1b antibody syndrome. We present a patient whose palatal insufficiency was the only clinical sign of postinfectious GQ1b antibody syndrome. Cerebral magnetic resonance imaging confirmed involvement of the glossopharyngeal nerve and vagus nerve bilaterally, revealing gadolinium enhancement of both nerves bilaterally and thickening of the left nervus vagus. Magnetic resonance imaging may help in diagnosing postinfectious GQ1b antibody syndrome, especially at early stages and in monosymptomatic patients. Early diagnosis may lead to early therapy, resulting in a milder disease course by preventing further deterioration leading to the ataxia and ophthalmoplegia usually observed in patients with postinfectious GQ1b antibody syndrome. Copyright © 2011 Elsevier Inc. All rights reserved.

Spectral feature design in high dimensional multispectral data

NASA Technical Reports Server (NTRS)

Chen, Chih-Chien Thomas; Landgrebe, David A.

1988-01-01

The High resolution Imaging Spectrometer (HIRIS) is designed to acquire images simultaneously in 192 spectral bands in the 0.4 to 2.5 micrometers wavelength region. It will make possible the collection of essentially continuous reflectance spectra at a spectral resolution sufficient to extract significantly enhanced amounts of information from return signals as compared to existing systems. The advantages of such high dimensional data come at a cost of increased system and data complexity. For example, since the finer the spectral resolution, the higher the data rate, it becomes impractical to design the sensor to be operated continuously. It is essential to find new ways to preprocess the data which reduce the data rate while at the same time maintaining the information content of the high dimensional signal produced. Four spectral feature design techniques are developed from the Weighted Karhunen-Loeve Transforms: (1) non-overlapping band feature selection algorithm; (2) overlapping band feature selection algorithm; (3) Walsh function approach; and (4) infinite clipped optimal function approach. The infinite clipped optimal function approach is chosen since the features are easiest to find and their classification performance is the best. After the preprocessed data has been received at the ground station, canonical analysis is further used to find the best set of features under the criterion that maximal class separability is achieved. Both 100 dimensional vegetation data and 200 dimensional soil data were used to test the spectral feature design system. It was shown that the infinite clipped versions of the first 16 optimal features had excellent classification performance. The overall probability of correct classification is over 90 percent while providing for a reduced downlink data rate by a factor of 10.

Schizophrenia-like symptoms in narcolepsy type 1: shared and distinctive clinical characteristics.

PubMed

Plazzi, Giuseppe; Fabbri, Chiara; Pizza, Fabio; Serretti, Alessandro

2015-01-01

The occurrence of psychotic symptoms in narcolepsy type 1 (NT1) has been reported as responsible for delayed diagnosis due to the misdiagnosis of schizophrenia. This study aimed to identify shared and distinctive clinical characteristics between NT1 and schizophrenia, with the focus on psychotic symptoms. A total of 28 NT1 and 21 schizophrenia patients were included. Hallucination characteristics and PANSS (Positive and Negative Syndrome Scale), HRSD (Hamilton Rating Scale for Depression), DES (Dissociative Experiences Scale), and STAI (State-Trait Anxiety Inventory) scores were collected. Symptom overlap was investigated by χ(2), Fisher's or t tests and multiple logistic regression models. Hallucinations and illusions frequently occurred in both diseases. Unimodal hallucinations were more common in schizophrenia (p = 6.30e-07) and multimodal hallucinations in NT1, but no clear difference was identified in their sensory modality. Hypnagogic/hypnopompic hallucinations were typical of NT1 (p = 5.22e-07), and 25% of NT1 patients exhibited some degree of insight deficit. Hypnagogic/hypnopompic hallucinations, unimodal hallucinations and PANSS score were the most distinctive clinical characteristics. Clinical overlap was found in the dissociative and anxiety domains, while higher depressive scores were observed in schizophrenia. The overlap between NT1 and schizophrenia should be further investigated under a clinical and pathogenetic point of view to improve diagnostic and therapeutic approaches. © 2015 S. Karger AG, Basel.

Separating morphologically similar pollen types using basic shape features from digital images: A preliminary study1

PubMed Central

Holt, Katherine A.; Bebbington, Mark S.

2014-01-01

• Premise of the study: One of the many advantages offered by automated palynology systems is the ability to vastly increase the number of observations made on a particular sample or samples. This is of particular benefit when attempting to fully quantify the degree of variation within or between closely related pollen types. • Methods: An automated palynology system (Classifynder) has been used to further investigate the variation in pollen morphology between two New Zealand species of Myrtaceae (Leptospermum scoparium and Kunzea ericoides) that are of significance in the New Zealand honey industry. Seven geometric features extracted from automatically gathered digital images were used to characterize the range of shape and size of the two taxa, and to examine the extent of previously reported overlap in these variables. • Results: Our results indicate a degree of overlap in all cases. The narrowest overlap was in measurements of maximum Feret diameter (MFD) in grains oriented in polar view. Multivariate statistical analysis using all seven factors provided the most robust discrimination between the two types. • Discussion: Further work is required before this approach could be routinely applied to separating the two pollen types used in this study, most notably the development of comprehensive reference distributions for the types in question. PMID:25202650

Clinical characteristics of the asthma-COPD overlap syndrome--a systematic review.

PubMed

Nielsen, Mia; Bårnes, Camilla Boslev; Ulrik, Charlotte Suppli

2015-01-01

In recent years, the so-called asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) has received much attention, not least because elderly individuals may present characteristics suggesting a diagnosis of both asthma and COPD. At present, ACOS is described clinically as persistent airflow limitation combined with features of both asthma and COPD. The aim of this paper is, therefore, to review the currently available literature focusing on symptoms and clinical characteristics of patients regarded as having ACOS. Based on the preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines, a systematic literature review was performed. A total of 11 studies met the inclusion criteria for the present review. All studies dealing with dyspnea (self-reported or assessed by the Medical Research Council dyspnea scale) reported more dyspnea among patients classified as having ACOS compared to the COPD and asthma groups. In line with this, ACOS patients have more concomitant wheezing and seem to have more cough and sputum production. Compared to COPD-only patients, the ACOS patients were found to have lower FEV1% predicted and FEV1/FVC ratio in spite of lower mean life-time tobacco exposure. Furthermore, studies have revealed that ACOS patients seem to have not only more frequent but also more severe exacerbations. Comorbidity, not least diabetes, has also been reported in a few studies, with a higher prevalence among ACOS patients. However, it should be acknowledged that only a limited number of studies have addressed the various comorbidities in patients with ACOS. The available studies indicate that ACOS patients may have more symptoms and a higher exacerbation rate than patients with asthma and COPD only, and by that, probably a higher overall respiratory-related morbidity. Similar to patients with COPD, ACOS patients seem to have a high occurrence of comorbidity, including diabetes. Further research into the ACOS, not least from well-defined prospective studies, is clearly needed.

Non-familial hemophagocytic lymphohistiocytosis.

PubMed

Cozzutto, C; Carbone, A; Comelli, A; Volpe, R

1989-03-01

A case of non-familial hemophagocytic lymphohistiocytosis (HLH) is described. The patient had a chronic course being alive and doing relatively well 3 years since onset. The specific pathological features of this disorder are discussed with emphasis on the fact that a remarkable loss of lymph node structure is sustained by a mature lymphohistiocytic infiltrate. Erythrophagocytosis is assessed as an important but not specific finding. Lymphocyte depletion is an important feature of the lesion. The presence of overlapping features in HLH, infection-associated hemophagocytic syndrome (IAHS) and X-linked recessive lymphoproliferative syndrome (XLS) is emphasized.

Burnout-depression overlap: a review.

PubMed

Bianchi, Renzo; Schonfeld, Irvin Sam; Laurent, Eric

2015-03-01

Whether burnout is a form of depression or a distinct phenomenon is an object of controversy. The aim of the present article was to provide an up-to-date review of the literature dedicated to the question of burnout-depression overlap. A systematic literature search was carried out in PubMed, PsycINFO, and IngentaConnect. A total of 92 studies were identified as informing the issue of burnout-depression overlap. The current state of the art suggests that the distinction between burnout and depression is conceptually fragile. It is notably unclear how the state of burnout (i.e., the end stage of the burnout process) is conceived to differ from clinical depression. Empirically, evidence for the distinctiveness of the burnout phenomenon has been inconsistent, with the most recent studies casting doubt on that distinctiveness. The absence of consensual diagnostic criteria for burnout and burnout research's insufficient consideration of the heterogeneity of depressive disorders constitute major obstacles to the resolution of the raised issue. In conclusion, the epistemic status of the seminal, field-dominating definition of burnout is questioned. It is suggested that systematic clinical observation should be given a central place in future research on burnout-depression overlap. Copyright © 2015 Elsevier Ltd. All rights reserved.

Response inhibition in Attention deficit disorder and neurofibromatosis type 1 – clinically similar, neurophysiologically different

PubMed Central

Bluschke, Annet; von der Hagen, Maja; Papenhagen, Katharina; Roessner, Veit; Beste, Christian

2017-01-01

There are large overlaps in cognitive deficits occurring in attention deficit disorder (ADD) and neurodevelopmental disorders like neurofibromatosis type 1 (NF1). This overlap is mostly based on clinical measures and not on in-depth analyses of neuronal mechanisms. However, the consideration of such neuronal underpinnings is crucial when aiming to integrate measures that can lead to a better understanding of the underlying mechanisms. Inhibitory control deficits, for example, are a hallmark in ADD, but it is unclear how far there are similar deficits in NF1. We thus compared adolescent ADD and NF1 patients to healthy controls in a Go/Nogo task using behavioural and neurophysiological measures. Clinical measures of ADD-symptoms were not different between ADD and NF1. Only patients with ADD showed increased Nogo errors and reductions in components reflecting response inhibition (i.e. Nogo-P3). Early perceptual processes (P1) were changed in ADD and NF1. Clinically, patients with ADD and NF1 thus show strong similarities. This is not the case in regard to underlying cognitive control processes. This shows that in-depth analyses of neurophysiological processes are needed to determine whether the overlap between ADD and NF1 is as strong as assumed and to develop appropriate treatment strategies. PMID:28262833

Comparing the profile of child patients attending dental general anaesthesia and conscious sedation services.

PubMed

Hariharan, S; Hosey, M T; Bernabe, E

2017-05-12

Aims To compare the profile of paediatric patients receiving dental treatment under general anaesthesia (GA) or conscious sedation (CS). A second aim was to explore whether there is an overlap between the two patient groups.Design This service evaluation study was based on sociodemographic and clinical data extracted from clinical records of patients attending dental appointments for GA or CS services at King's College Hospital. Sociodemographic and clinical differences between GA and CS groups were explored using logistic regression models.Results Data from 113 children (58 GA and 55 CS) were analysed. There were differences between groups in terms of age and numbers of quadrants and teeth treated, but not in terms of sex, ethnicity or deprivation scores. In the adjusted model, older children and those having more teeth treated were more likely to be in the GA than in the CS group. An overlap between the GA and CS groups was found, with 50% of children aged four to nine years having two to four teeth treated in both groups.Conclusion Age and number of teeth treated were the main characteristics associated with receiving care under GA or CS. Some overlap between children receiving dental treatment under GA or CS existed despite demographic and clinical differences between both groups.

Imaging and Clinicopathologic Features of Esophageal Gastrointestinal Stromal Tumors

PubMed Central

Winant, Abbey J.; Gollub, Marc J.; Shia, Jinru; Antonescu, Christina; Bains, Manjit S.; Levine, Marc S.

2016-01-01

OBJECTIVE The purpose of this article is to describe the imaging and clinicopathologic characteristics of esophageal gastrointestinal stromal tumors (GISTs) and to emphasize the features that differentiate esophageal GISTs from esophageal leiomyomas. MATERIALS AND METHODS A pathology database search identified all surgically resected or biopsied esophageal GISTs, esophageal leiomyomas, and esophageal leiomyosarcomas from 1994 to 2012. Esophageal GISTs were included only if imaging studies (including CT, fluoroscopic, or 18F-FDG PET/CT scans) and clinical data were available. RESULTS Nineteen esophageal mesenchymal tumors were identified, including eight esophageal GISTs (42%), 10 esophageal leiomyomas (53%), and one esophageal leiomyosarcoma (5%). Four patients (50%) with esophageal GIST had symptoms, including dysphagia in three (38%), cough in one (13%), and chest pain in one (13%). One esophageal GIST appeared on barium study as a smooth submucosal mass. All esophageal GISTs appeared on CT as well-marginated predominantly distal lesions, isoattenuating to muscle, that moderately enhanced after IV contrast agent administration. Compared with esophageal leiomyomas, esophageal GISTs tended to be more distal, larger, and more heterogeneous and showed greater IV enhancement on CT. All esophageal GISTs showed marked avidity (mean maximum standardized uptake value, 16) on PET scans. All esophageal GISTs were positive for c-KIT (a cell-surface transmembrane tyrosine kinase also known as CD117) and CD34. On histopathology, six esophageal GISTs (75%) were of the spindle pattern and two (25%) were of a mixed spindle and epithelioid pattern. Five esophageal GISTs had exon 11 mutations (with imatinib sensitivity). Clinical outcome correlated with treatment strategy (resection plus adjuvant therapy or resection alone) rather than risk stratification. CONCLUSION Esophageal GISTs are unusual but clinically important mesenchymal neoplasms. Although esophageal GISTs and esophageal leiomyomas had overlapping imaging features, esophageal GISTs tended to be more distal, larger, more heterogeneous, and more enhancing on CT and were markedly FDG avid on PET. Given their malignant potential, esophageal GISTs should be included in the differential diagnosis of intramural esophageal neoplasms. PMID:25055264

An overlap case of Parry-Romberg syndrome and en coup de sabre with striking ocular involvement and anti-double-stranded DNA positivity.

PubMed

Ataş, Hatice; Gönül, Müzeyyen; Gökçe, Aysun; Acar, Mutlu; Gürdal, Canan

2018-02-01

Parry-Romberg syndrome (PRS) may overlap localized scleroderma (morphea) lesions with linear depression (en coup de sabre [ECDS]). Overlap case with PRS and ECDS was presented. Enophthalmos, uveitis, ocular torticollis, keratic linear precipitates, and anti-double-stranded DNA positivity were identified. Subendothelial keratic precipitates detected by an in vivo laser scanning confocal microscopy were the first profiled in the literature. Patients must be evaluated and followed up carefully by their clinics to prevent misdiagnosis and unnecessary procedures such as surgery of ocular torticollis as muscular torticollis.

Analysis of Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome Defined on the Basis of Bronchodilator Response and Degree of Emphysema.

PubMed

Cosentino, James; Zhao, Huaqing; Hardin, Megan; Hersh, Craig P; Crapo, James; Kim, Victor; Criner, Gerard J

2016-09-01

Despite the increasing recognition of asthma-chronic obstructive pulmonary disease overlap syndrome (ACOS) as a clinical entity, it remains poorly characterized due to a lack of agreement on its definition and diagnostic criteria. The aim of this study was to use spirometry and computed tomography (CT) to help better define ACOS as well as to classify subjects with ACOS based on Global Initiative for Chronic Obstructive Lung Disease (GOLD) letter grade. We analyzed 10,192 subjects enrolled in the COPDGene Study. Subjects were non-Hispanic white or African American current or former smokers aged 45-80 years with at least a 10-pack-year smoking history. Subjects were categorized as having either ACOS with a bronchodilator response or chronic obstructive pulmonary disease with emphysema on the basis of spirometry, high-resolution CT, and a history of asthma or hay fever. Subjects with ACOS were younger (60.6 vs. 65.9 years old; P < 0.0001), more likely to be African American (26.8% vs. 14.4%; P < 0.0001), had a higher body mass index (29.6 vs. 25.1 kg/m(2); P < 0.0001), and were more likely to be current smokers (50.9% vs. 20.7%; P < 0.0001). The majority of subjects with ACOS were categorized as GOLD grade B. Despite less severe spirometry and CT findings in subjects with ACOS, there was no significant difference in severe or frequent exacerbations. Bronchodilator responsiveness and degree of emphysema can help define ACOS. When defined on the basis of bronchodilator responsiveness and degree of emphysema, patients with ACOS represent a unique and high-risk group with distinct clinical features.

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

PubMed

Gallione, Carol; Aylsworth, Arthur S; Beis, Jill; Berk, Terri; Bernhardt, Barbara; Clark, Robin D; Clericuzio, Carol; Danesino, Cesare; Drautz, Joanne; Fahl, Jeffrey; Fan, Zheng; Faughnan, Marie E; Ganguly, Arupa; Garvie, John; Henderson, Katharine; Kini, Usha; Leedom, Tracey; Ludman, Mark; Lux, Andreas; Maisenbacher, Melissa; Mazzucco, Sara; Olivieri, Carla; Ploos van Amstel, Johannes K; Prigoda-Lee, Nadia; Pyeritz, Reed E; Reardon, Willie; Vandezande, Kirk; Waldman, J Deane; White, Robert I; Williams, Charles A; Marchuk, Douglas A

2010-02-01

Juvenile polyposis (JP) and hereditary hemorrhagic telangiectasia (HHT) are clinically distinct diseases caused by mutations in SMAD4 and BMPR1A (for JP) and endoglin and ALK1 (for HHT). Recently, a combined syndrome of JP-HHT was described that is also caused by mutations in SMAD4. Although both JP and JP-HHT are caused by SMAD4 mutations, a possible genotype:phenotype correlation was noted as all of the SMAD4 mutations in the JP-HHT patients were clustered in the COOH-terminal MH2 domain of the protein. If valid, this correlation would provide a molecular explanation for the phenotypic differences, as well as a pre-symptomatic diagnostic test to distinguish patients at risk for the overlapping but different clinical features of the disorders. In this study, we collected 19 new JP-HHT patients from which we identified 15 additional SMAD4 mutations. We also reviewed the literature for other reports of JP patients with HHT symptoms with confirmed SMAD4 mutations. Our combined results show that although the SMAD4 mutations in JP-HHT patients do show a tendency to cluster in the MH2 domain, mutations in other parts of the gene also cause the combined syndrome. Thus, any mutation in SMAD4 can cause JP-HHT. Any JP patient with a SMAD4 mutation is, therefore, at risk for the visceral manifestations of HHT and any HHT patient with SMAD4 mutation is at risk for early onset gastrointestinal cancer. In conclusion, a patient who tests positive for any SMAD4 mutation must be considered at risk for the combined syndrome of JP-HHT and monitored accordingly. Copyright 2010 Wiley-Liss, Inc.

Neuroimaging Identifies Patients Most Likely to Respond to a Restorative Stroke Therapy.

PubMed

Cassidy, Jessica M; Tran, George; Quinlan, Erin B; Cramer, Steven C

2018-02-01

Patient heterogeneity reduces statistical power in clinical trials of restorative therapies. Valid predictors of treatment responsiveness are needed, and several have been studied with a focus on corticospinal tract (CST) injury. We studied performance of 4 such measures for predicting behavioral gains in response to motor training therapy. Patients with subacute-chronic hemiparetic stroke (n=47) received standardized arm motor therapy, and change in arm Fugl-Meyer score was calculated from baseline to 1 month post-therapy. Injury measures calculated from baseline magnetic resonance imaging included (1) percent CST overlap with stroke, (2) CST-related atrophy (cerebral peduncle area), (3) CST integrity (fractional anisotropy) in the cerebral peduncle, and (4) CST integrity in the posterior limb of internal capsule. Percent CST overlap with stroke, CST-related atrophy, and CST integrity did not correlate with one another, indicating that these 3 measures captured independent features of CST injury. Percent injury to CST significantly predicted treatment-related behavioral gains ( r =-0.41; P =0.004). The other CST injury measures did not, neither did total infarct volume nor baseline behavioral deficits. When directly comparing patients with mild versus severe injury using the percent CST injury measure, the odds ratio was 15.0 (95% confidence interval, 1.54-147; P <0.005) for deriving clinically important treatment-related gains. Percent CST injury is useful for predicting motor gains in response to therapy in the setting of subacute-chronic stroke. This measure can be used as an entry criterion or a stratifying variable in restorative stroke trials to increase statistical power, reduce sample size, and reduce the cost of such trials. © 2018 American Heart Association, Inc.

Overlapping and disease specific trait, response, and reflection impulsivity in adolescents with first-episode schizophrenia spectrum disorders or attention-deficit/hyperactivity disorder.

PubMed

Jepsen, J R M; Rydkjaer, J; Fagerlund, B; Pagsberg, A K; Jespersen, R Av F; Glenthøj, B Y; Oranje, B

2018-03-01

Schizophrenia and attention-deficit/hyperactivity disorder (ADHD) are developmental disorders with shared clinical characteristics such as cognitive impairments and impulsivity. Impulsivity is a core feature of ADHD and an important factor in aggression, violence, and substance use in schizophrenia. Based on the hypothesis that schizophrenia and ADHD represent a continuum of neurodevelopmental impairments, the aim was to identify overlapping and disease specific forms of impulsivity. Adolescents between 12 and 17 years of age were assessed with the Schedule for Affective Disorders and Schizophrenia for School-aged Children - Present and Lifetime Version. Subjects with early-onset, first-episode schizophrenia spectrum disorders (EOS) (N = 29) or ADHD (N = 29) and healthy controls (N = 45) were compared on two performance measures (Information Sampling Task, Stop Signal Task) and a subjective personality trait measure of impulsivity (Barratt Impulsiveness Scale, Version 11 (BIS-11)). Significantly increased reflection impulsivity was observed in ADHD but not in the EOS group. No significant response inhibition deficits (stop signal reaction time) were found in the two clinical groups. The ADHD and the EOS group showed significantly increased motor, attentional, and non-planning subtraits of impulsivity. Impaired pre-decisional information gathering appeared to be specific for ADHD while the information gathering was not significantly reduced in subjects with EOS. Neither the ADHD nor EOS group showed impaired response inhibition but shared increased personality subtraits of attentional, non-planning, and motor impulsivity although the latter was significantly more pronounced in ADHD. These increased subtraits of impulsivity may reflect diagnostic non-specific neurodevelopmental impairments in ADHD and EOS in adolescence.

Sagittal-lung CT measurements in the evaluation of asthma-COPD overlap syndrome: a distinctive phenotype from COPD alone.

PubMed

Qu, Yanjuan; Cao, Yiyuan; Liao, Meiyan; Lu, Zhiyan

2017-07-01

This study aimed at investigating the capability of sagittal-lung computed tomography (CT) measurements in differentiating chronic obstructive pulmonary disease (COPD) and asthma-COPD overlap syndrome (ACOS). Clinical and high-resolution CT of 229 patients including 123 pure COPD patients and 106 ACOS patients were included. Sagittal-lung CT measurements in terms of bilateral lung height (LH), anterior-posterior lung diameter (APLD), diaphragm height (DH), and anterior sterno-diaphragmatic angle (ASDA), as well as inter-pulmonary septum length (IPSL) on axial images were measured both before and after bronchodilator (BD) administration. Comparisons of clinical characteristics and CT measurements between patient groups were performed. All pre-BD quantitative sagittal features measuring diaphragm flattening and hyperinflation were not significantly different between patients with COPD and patients with ACOS (P values all >0.05). Following BD administration, the ACOS patients exhibited lower left LH, bilateral APLD, and bilateral ASDA, but higher right DH, compared to pure COPD patients (P values all <0.05). Right LH, left DH and IPSL were not significantly different between patient groups. Besides, variations of all sagittal-lung CT measurements were significantly larger in patients with ACOS than in patients with pure COPD (P values all <0.001) and showed high performance in differentiating these two kinds of patient, with diagnostic sensitivities ranging from 76.4 to 97.2%, specificities ranging from 86.2 to 100.0%, and accuracies ranging from 80.9 to 90.7%. Sagittal-lung CT measurements allow for differentiating patients with ACOS from those with pure COPD. The ACOS patients had larger post-BD variations of sagittal-lung CT measurements than patients with pure COPD.

A statistical method for lung tumor segmentation uncertainty in PET images based on user inference.

PubMed

Zheng, Chaojie; Wang, Xiuying; Feng, Dagan

2015-01-01

PET has been widely accepted as an effective imaging modality for lung tumor diagnosis and treatment. However, standard criteria for delineating tumor boundary from PET are yet to develop largely due to relatively low quality of PET images, uncertain tumor boundary definition, and variety of tumor characteristics. In this paper, we propose a statistical solution to segmentation uncertainty on the basis of user inference. We firstly define the uncertainty segmentation band on the basis of segmentation probability map constructed from Random Walks (RW) algorithm; and then based on the extracted features of the user inference, we use Principle Component Analysis (PCA) to formulate the statistical model for labeling the uncertainty band. We validated our method on 10 lung PET-CT phantom studies from the public RIDER collections [1] and 16 clinical PET studies where tumors were manually delineated by two experienced radiologists. The methods were validated using Dice similarity coefficient (DSC) to measure the spatial volume overlap. Our method achieved an average DSC of 0.878 ± 0.078 on phantom studies and 0.835 ± 0.039 on clinical studies.

Proceedings from the 2009 Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back

PubMed Central

Rauen, Katherine A.; Schoyer, Lisa; McCormick, Frank; Lin, Angela E.; Allanson, Judith E.; Stevenson, David A.; Gripp, Karen W.; Neri, Giovanni; Carey, John C.; Legius, Eric; Tartaglia, Marco; Schubbert, Suzanne; Roberts, Amy E.; Gelb, Bruce D.; Shannon, Kevin; Gutmann, David H.; McMahon, Martin; Guerra, Carmen; Fagin, James A.; Yu, Benjamin; Aoki, Yoko; Neel, Ben G.; Balmain, Allan; Drake, Richard R.; Nolan, Garry P.; Zenker, Martin; Bollag, Gideon; Sebolt-Leopold, Judith; Gibbs, Jackson B.; Silva, Alcino J.; Patton, E. Elizabeth; Viskochil, David H.; Kieran, Mark W.; Korf, Bruce R.; Hagerman, Randi J.; Packer, Roger J.; Melese, Teri

2012-01-01

The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Some of these syndromes are neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, LEOPARD syndrome and Legius syndrome. Their common underlying pathogenetic mechanism brings about significant overlap in phenotypic features and includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium “Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back” chronicle the timely and typical research symposium which brought together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras syndromes and their families. The goals, to discuss basic science and clinical issues, to set forth a solid framework for future research, to direct translational applications towards therapy and to set forth best practices for individuals with RASopathies was successfully meet with a commitment to begin to move towards clinical trials. PMID:20014119

Formal thought disorder in schizophrenia and bipolar disorder: A systematic review and meta-analysis.

PubMed

Yalincetin, Berna; Bora, Emre; Binbay, Tolga; Ulas, Halis; Akdede, Berna Binnur; Alptekin, Koksal

2017-07-01

Historically, formal thought disorder has been considered as one of the distinctive symptoms of schizophrenia. However, research in last few decades suggested that there is a considerable clinical and neurobiological overlap between schizophrenia and bipolar disorder (BP). We conducted a meta-analysis of studies comparing positive (PTD) and negative formal thought disorder (NTD) in schizophrenia and BP. We included 19 studies comparing 715 schizophrenia and 474 BP patients. In the acute inpatient samples, there was no significant difference in the severity of PTD (d=-0.07, CI=-0.22-0.09) between schizophrenia and BP. In stable patients, schizophrenia was associated with increased PTD compared to BP (d=1.02, CI=0.35-1.70). NTD was significantly more severe (d=0.80, CI=0.52-0.1.08) in schizophrenia compared to BP. Our findings suggest that PTD is a shared feature of both schizophrenia and BP but persistent PTD or NTD can distinguish subgroups of schizophrenia from BP and schizophrenia patients with better clinical outcomes. Copyright © 2016 Elsevier B.V. All rights reserved.

Cutaneous lupus erythematosus: An update

PubMed Central

Grönhagen, Carina M; Nyberg, Filippa

2014-01-01

Lupus erythematosus (LE) is a chronic, autoimmune, multisystem disease that displays many diverse symptoms in which localized cutaneous LE (CLE) is on one end of the spectrum and severe systemic LE (SLE) on the other end. The underlying cause of LE is unknown but the etiology is thought to be multifactorial and polygenic. CLE is a disfiguring, chronic skin disease, with a significant impact on the patients’ everyday life. CLE are further divided into three main subsets: Acute CLE (ACLE), subacute CLE (SCLE) and chronic CLE (CCLE), where classic discoid LE (DLE) is the most common form. These subsets are defined by clinical symptoms, average duration of symptoms and histological and serological findings, although, the three subtypes can have overlapping clinical features. CLE patients display well-defined skin lesions, often in sun-exposed areas. The disease often has a chronic and relapsing course that can be induced or aggravated by UV light. It is important to confirm a CLE diagnosis histopathologically by a biopsy and in that there are several differential diagnoses and because CLE is a chronic disease in which regular follow-up is important and systemic treatment is sometimes indicated. PMID:24616847

The triadic intersubjective matrix in supervision: the use of disclosure to work through painful affects.

PubMed

Brown, Lawrence J; Miller, Martin

2002-08-01

The use of the psychoanalyst's subjective reactions as a tool to better understand his/her patient has been a central feature of clinical thinking in recent decades. While there has been much discussion and debate about the analyst's use of countertransference in individual psychoanalysis, including possible disclosure of his/her feelings to the patient, the literature on supervision has been slower to consider such matters. The attention to parallel processes in supervision has been helpful in appreciating the impact of affects arising in either the analyst/patient or the supervisor/analyst dyads upon the analytic treatment and its supervision. This contribution addresses the ways in which overlapping aspects of the personalities of the supervisor, analyst and patient may intersect and create resistances in the treatment. That three-way intersection, described here as the triadic intersubjective matrix, is considered inevitable in all supervised treatments. A clinical example from the termination phase of a supervised analysis of an adolescent is offered to illustrate these points. Finally, the question of self-disclosure as an aspect of the supervisory alliance is also discussed.

Emotional dysregulation and Attention-Deficit/Hyperactivity Disorder

PubMed Central

Stringaris, Argyris; Nigg, Joel; Leibenluft, Ellen

2014-01-01

It has long been recognized that many individuals with ADHD also have difficulties with emotion regulation but lack of consensus on how to conceptualize this clinically challenging domain renders a review timely. The authors examine the current literature using both quantitative and qualitative methods. Three key findings emerge. First, emotion dysregulation is prevalent in ADHD throughout the lifespan and is a major contributor to impairment. Second, emotion dysregulation in ADHD may arise from deficits in orienting towards, recognizing and/or allocating attention to emotional stimuli; these deficits that implicate dysfunction within a striato-amygdalo-medial prefrontal cortical network. Third, while current treatments for ADHD often also ameliorate emotion dysregulation, a focus on this combination of symptoms reframes clinical questions and could stimulate novel therapeutic approaches. Three models to explain the overlap between emotion dysregulation and ADHD are considered: emotion dysregulation and ADHD are correlated but distinct dimensions; emotion dysregulation is a core, diagnostic feature of ADHD; and the combination constitutes a nosological entity, distinct from both ADHD and emotion dysreguation alone. The differing predictions from each model can guide future research into this much-neglected population. PMID:24480998

Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient.

PubMed

Dumic, Katja; Barisic, Ingeborg; Potocki, Kristina; Sansovic, Ivona

2011-05-01

The simultaneous presence of Down syndrome and achondroplasia has rarely been reported in the literature, and our search revealed only six patients with such an association. We are reporting the first case of a patient with Down syndrome and hypochondroplasia. In this patient, Down syndrome was clinically recognised and confirmed by the cytogenetic finding of mosaic karyotype (47,XX,+21/46,XX) shortly after birth. She was subsequently diagnosed with hypochondroplasia at the age of 6 years when disproportional short stature, stocky habitus and macrocephaly were observed. These phenotypic findings were later confirmed by the presence of fibroblast growth factor receptor 3 (FGFR3) gene mutation N540K. The overlapping common clinical features of Down syndrome and hypochondroplasia resulted in delayed diagnosis of hypochondroplasia in our patient and the associated deleterious effect on her linear growth. Her final height is 126.5 cm, which is -3.76 standard deviations (SD) lower than the median height in patients with Down syndrome, and is under the lower borderline of the adult height range for women with hypochondroplasia.

Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.

PubMed

Jang, Mi-Ae; Lee, Taeheon; Lee, Junnam; Cho, Eun-Hae; Ki, Chang-Seok

2015-05-01

Waardenburg syndrome (WS) is a clinically and genetically heterogeneous hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration. Many genes have been linked to WS, including PAX3, MITF, SNAI2, EDNRB, EDN3, and SOX10, and many additional genes have been associated with disorders with phenotypic overlap with WS. To screen all possible genes associated with WS and congenital deafness simultaneously, we performed diagnostic exome sequencing (DES) in a male patient with clinical features consistent with WS. Using DES, we identified a novel missense variant (c.220C>G; p.Arg74Gly) in exon 2 of the PAX3 gene in the patient. Further analysis by Sanger sequencing of the patient and his parents revealed a de novo occurrence of the variant. Our findings show that DES can be a useful tool for the identification of pathogenic gene variants in WS patients and for differentiation between WS and similar disorders. To the best of our knowledge, this is the first report of genetically confirmed WS in Korea.

[Clinical examination of the hip joint in adults].

PubMed

Grifka, J; Keshmiri, A; Maderbacher, G; Craiovan, B

2014-12-01

Complaints in the region of the hips and pelvis are often difficult to classify. This is due to the fact that pain projection and overlapping can occur; therefore, the complete region of the lumbar spine, pelvis and hips must be considered as a single entity in which alterations can result in radiation throughout the whole region. There are many different anatomical structures within the pelvic region so that the function of various muscle components can be impaired and cause pathological alterations to positional relationships of bony structures or even alterations to other soft tissues, such as ligaments, tendons and labra. In terms of differential diagnostics the groin must be seen as the weak point of the peritoneum and vascular system and taken into consideration. Therefore, a detailed and targeted medical history, functional testing and specific examinations and tests are necessary to narrow down the pathology in question and reach a definitive diagnosis. Orthopedic surgeons must know which conspicuous features can lead to which problems and which anatomical structures are likely to be affected by irritation. The results of the clinical examination are the basis for targeted imaging diagnostics and subsequent therapy.

[Clinical examination of the hip joint in adults].

PubMed

Grifka, J; Keshmiri, A; Maderbacher, G; Craiovan, B

2015-07-01

Complaints in the region of the hips and pelvis are often difficult to classify. This is due to the fact that pain projection and overlapping can occur; therefore, the complete region of the lumbar spine, pelvis and hips must be considered as a single entity in which alterations can result in radiation throughout the whole region. There are many different anatomical structures within the pelvic region so that the function of various muscle components can be impaired and cause pathological alterations to positional relationships of bony structures or even alterations to other soft tissues, such as ligaments, tendons and labra. In terms of differential diagnostics the groin must be seen as the weak point of the peritoneum and vascular system and taken into consideration. Therefore, a detailed and targeted medical history, functional testing and specific examinations and tests are necessary to narrow down the pathology in question and reach a definitive diagnosis. Orthopedic surgeons must know which conspicuous features can lead to which problems and which anatomical structures are likely to be affected by irritation. The results of the clinical examination are the basis for targeted imaging diagnostics and subsequent therapy.

Clinicopathologic Correlation of White, Non scrapable Oral Mucosal Surface Lesions: A Study of 100 Cases.

PubMed

Abidullah, Mohammed; Raghunath, Vandana; Karpe, Tanveer; Akifuddin, Syed; Imran, Shahid; Dhurjati, Venkata Naga Nalini; Aleem, Mohammed Ahtesham; Khatoon, Farheen

2016-02-01

White, non scrapable lesions are commonly seen in the oral cavity. Based on their history and clinical appearance, most of these lesions can be easily diagnosed, but sometimes diagnosis may go wrong. In order to arrive to a confirmative diagnosis, histopathological assessment is needed in many cases, if not all. 1) To find out the prevalence of clinically diagnosed oral white, non scrapable lesions. 2) To find out the prevalence of histopathologically diagnosed oral white, non scrapable lesions. 3) To correlate the clinical and histopathological diagnosis in the above lesions. A total of 100 cases of oral white, non scrapable lesions were included in the study. Based on their history and clinical presentation, clinical provisional diagnosis was made. Then biopsy was done and confirmatory histopathological diagnosis was given and both were correlated. In order to correlate clinical and histopathological diagnosis Discrepancy Index (DI) was calculated for all the cases. Based on clinical diagnosis, there were 59 cases (59%) of leukoplakia, 29 cases (29%) of lichen planus and six cases (6%) of lichenoid reaction; whereas, based on histopathological diagnosis, there were 66 cases (66%) of leukoplakia epithelial hyperplasia and hyperkeratosis (leukoplakia) and 30 cases (30%) of lichen planus. Seventy eight clinically diagnosed cases (78%) correlated with the histopathological diagnosis and 22 cases (22%) did not correlate. The total discrepancy index was 22%. A clinician needs to be aware of oral white, non scrapable lesions. Due to the overlapping of many clinical features in some of these lesions and also due to their malignant potential, a histopathological confirmative diagnosis is recommended.

Registration of 3D spectral OCT volumes using 3D SIFT feature point matching

NASA Astrophysics Data System (ADS)

Niemeijer, Meindert; Garvin, Mona K.; Lee, Kyungmoo; van Ginneken, Bram; Abràmoff, Michael D.; Sonka, Milan

2009-02-01

The recent introduction of next generation spectral OCT scanners has enabled routine acquisition of high resolution, 3D cross-sectional volumetric images of the retina. 3D OCT is used in the detection and management of serious eye diseases such as glaucoma and age-related macular degeneration. For follow-up studies, image registration is a vital tool to enable more precise, quantitative comparison of disease states. This work presents a registration method based on a recently introduced extension of the 2D Scale-Invariant Feature Transform (SIFT) framework1 to 3D.2 The SIFT feature extractor locates minima and maxima in the difference of Gaussian scale space to find salient feature points. It then uses histograms of the local gradient directions around each found extremum in 3D to characterize them in a 4096 element feature vector. Matching points are found by comparing the distance between feature vectors. We apply this method to the rigid registration of optic nerve head- (ONH) and macula-centered 3D OCT scans of the same patient that have only limited overlap. Three OCT data set pairs with known deformation were used for quantitative assessment of the method's robustness and accuracy when deformations of rotation and scaling were considered. Three-dimensional registration accuracy of 2.0+/-3.3 voxels was observed. The accuracy was assessed as average voxel distance error in N=1572 matched locations. The registration method was applied to 12 3D OCT scans (200 x 200 x 1024 voxels) of 6 normal eyes imaged in vivo to demonstrate the clinical utility and robustness of the method in a real-world environment.

Deployable and retractable telescoping tubular structure development

NASA Astrophysics Data System (ADS)

Thomson, M. W.

1993-02-01

The paper describes the design and the structural performance of a new type of deployable and retractable telescoping mast, which can be used for flight systems that require a deployable beam with superaccurate positioning characteristics or for short to medium highly loaded structural applications. The mast employs a Bi-STEM (a two-piece Storable Tubular Extendible Member) boom as an actuator and stabilizer, which alleviates the need for the deployed telescoping mast segments to overlap. Due to this feature and because the segments can be fully overlapped when stowed, the mast enables an unusually lightweight and compact launch configuration.

Novel Calmodulin (CALM2) Mutations Associated with Congenital Arrhythmia Susceptibility

PubMed Central

Makita, Naomasa; Yagihara, Nobue; Crotti, Lia; Johnson, Christopher N.; Beckmann, Britt-Maria; Roh, Michelle S.; Shigemizu, Daichi; Lichtner, Peter; Ishikawa, Taisuke; Aiba, Takeshi; Homfray, Tessa; Behr, Elijah R.; Klug, Didier; Denjoy, Isabelle; Mastantuono, Elisa; Theisen, Daniel; Tsunoda, Tatsuhiko; Satake, Wataru; Toda, Tatsushi; Nakagawa, Hidewaki; Tsuji, Yukiomi; Tsuchiya, Takeshi; Yamamoto, Hirokazu; Miyamoto, Yoshihiro; Endo, Naoto; Kimura, Akinori; Ozaki, Kouichi; Motomura, Hideki; Suda, Kenji; Tanaka, Toshihiro; Schwartz, Peter J.; Meitinger, Thomas; Kääb, Stefan; Guicheney, Pascale; Shimizu, Wataru; Bhuiyan, Zahurul A.; Watanabe, Hiroshi; Chazin, Walter J.; George, Alfred L.

2014-01-01

Background Genetic predisposition to life-threatening cardiac arrhythmias such as in congenital long-QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT) represent treatable causes of sudden cardiac death in young adults and children. Recently, mutations in calmodulin (CALM1, CALM2) have been associated with severe forms of LQTS and CPVT, with life-threatening arrhythmias occurring very early in life. Additional mutation-positive cases are needed to discern genotype-phenotype correlations associated with calmodulin mutations. Methods and Results We employed conventional and next-generation sequencing approaches including exome analysis in genotype-negative LQTS probands. We identified five novel de novo missense mutations in CALM2 in three subjects with LQTS (p.N98S, p.N98I, p.D134H) and two subjects with clinical features of both LQTS and CPVT (p.D132E, p.Q136P). Age of onset of major symptoms (syncope or cardiac arrest) ranged from 1–9 years. Three of five probands had cardiac arrest and one of these subjects did not survive. Although all probands had LQTS, two subjects also exhibited electrocardiographic features consistent with CPVT. The clinical severity among subjects in this series was generally less than that originally reported for CALM1 and CALM2 associated with recurrent cardiac arrest during infancy. Four of five probands responded to β-blocker therapy whereas one subject with mutation p.Q136P died suddenly during exertion despite this treatment. Mutations affect conserved residues located within calcium binding loops III (p.N98S, p.N98I) or IV (p.D132E, p.D134H, p.Q136P) and caused reduced calcium binding affinity. Conclusions CALM2 mutations can be associated with LQTS and with overlapping features of LQTS and CPVT. PMID:24917665

Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome

PubMed Central

Veeraragavan, Surabi; Wan, Ying-Wooi; Connolly, Daniel R.; Hamilton, Shannon M.; Ward, Christopher S.; Soriano, Sirena; Pitcher, Meagan R.; McGraw, Christopher M.; Huang, Sharon G.; Green, Jennie R.; Yuva, Lisa A.; Liang, Agnes J.; Neul, Jeffrey L.; Yasui, Dag H.; LaSalle, Janine M.; Liu, Zhandong; Paylor, Richard; Samaco, Rodney C.

2016-01-01

Mouse models of the transcriptional modulator Methyl-CpG-Binding Protein 2 (MeCP2) have advanced our understanding of Rett syndrome (RTT). RTT is a ‘prototypical’ neurodevelopmental disorder with many clinical features overlapping with other intellectual and developmental disabilities (IDD). Therapeutic interventions for RTT may therefore have broader applications. However, the reliance on the laboratory mouse to identify viable therapies for the human condition may present challenges in translating findings from the bench to the clinic. In addition, the need to identify outcome measures in well-chosen animal models is critical for preclinical trials. Here, we report that a novel Mecp2 rat model displays high face validity for modelling psychomotor regression of a learned skill, a deficit that has not been shown in Mecp2 mice. Juvenile play, a behavioural feature that is uniquely present in rats and not mice, is also impaired in female Mecp2 rats. Finally, we demonstrate that evaluating the molecular consequences of the loss of MeCP2 in both mouse and rat may result in higher predictive validity with respect to transcriptional changes in the human RTT brain. These data underscore the similarities and differences caused by the loss of MeCP2 among divergent rodent species which may have important implications for the treatment of individuals with disease-causing MECP2 mutations. Taken together, these findings demonstrate that the Mecp2 rat model is a complementary tool with unique features for the study of RTT and highlight the potential benefit of cross-species analyses in identifying potential disease-relevant preclinical outcome measures. PMID:27365498

Automated Camera Array Fine Calibration

NASA Technical Reports Server (NTRS)

Clouse, Daniel; Padgett, Curtis; Ansar, Adnan; Cheng, Yang

2008-01-01

Using aerial imagery, the JPL FineCalibration (JPL FineCal) software automatically tunes a set of existing CAHVOR camera models for an array of cameras. The software finds matching features in the overlap region between images from adjacent cameras, and uses these features to refine the camera models. It is not necessary to take special imagery of a known target and no surveying is required. JPL FineCal was developed for use with an aerial, persistent surveillance platform.

Clinical features and subjective/physiological responses to emotional stimuli in the presence of emotion dysregulation in attention-deficit hyperactivity disorder.

PubMed

Taskiran, Candan; Karaismailoglu, Serkan; Cak Esen, Halime Tuna; Tuzun, Zeynep; Erdem, Aysen; Balkanci, Zeynep Dicle; Dolgun, Anil Barak; Cengel Kultur, Sadriye Ebru

2018-05-01

Emotion dysregulation (ED) has long been recognized in clinical descriptions of attention-deficit hyperactivity disorder (ADHD), but a renewed interest in ED has advanced research on the overlap between the two entities. Autonomic reactivity (AR) is a neurobiological correlate of emotion regulation; however, the association between ADHD and AR remains unclear. Our aim was to explore the clinical differences, AR, and subjective emotional responses to visual emotional stimuli in ADHD children with and without ED. School-aged ADHD children with (n = 28) and without (n = 20) ED, according to the definition of deficiency in emotional self-regulation (DESR), and healthy controls (n = 22) were interviewed by using the Schedule for Affective Disorders and Schizophrenia for School Aged Children-Present and Lifetime version (K-SADS-PL) to screen frequent psychopathologies for these ages. All subjects were evaluated with Child Behavior Checklist 6-18 (CBCL), the Strengths and Difficulties Questionnaire (SDQ), the McMaster Family Assessment Device (FAD), the School-Age Temperament Inventory (SATI), and Conners' Parent Rating Scale (CPRS-48), which were completed by parents. To evaluate emotional responses, the International Affective Picture System (IAPS) and the subjective and physiological responses (electrodermal activity and heart rate reactivity) to selected pictures were examined. Regarding clinically distinctive features, the ADHD+ED group differed from the ADHD-ED and the control groups in terms of having higher temperamental negative reactivity, more oppositional/conduct problems, and lower prosocial behaviors. In the AR measures, children in the ADHD+ED group rated unpleasant stimuli as more negative, but they still had lower heart rate reactivity (HRR) than the ADHD-ED and control groups; moreover, unlike the two other groups, the ADHD+ED group showed no differences in HRR between different emotional stimuli. The presented findings are unique in terms of their ability to clinically and physiologically differentiate between ADHD children with and without ED.

Integrated defense system overlaps as a disease model: with examples for multiple chemical sensitivity.

PubMed Central

Rowat, S C

1998-01-01

The central nervous, immune, and endocrine systems communicate through multiple common messengers. Over evolutionary time, what may be termed integrated defense system(s) (IDS) have developed to coordinate these communications for specific contexts; these include the stress response, acute-phase response, nonspecific immune response, immune response to antigen, kindling, tolerance, time-dependent sensitization, neurogenic switching, and traumatic dissociation (TD). These IDSs are described and their overlap is examined. Three models of disease production are generated: damage, in which IDSs function incorrectly; inadequate/inappropriate, in which IDS response is outstripped by a changing context; and evolving/learning, in which the IDS learned response to a context is deemed pathologic. Mechanisms of multiple chemical sensitivity (MCS) are developed from several IDS disease models. Model 1A is pesticide damage to the central nervous system, overlapping with body chemical burdens, TD, and chronic zinc deficiency; model 1B is benzene disruption of interleukin-1, overlapping with childhood developmental windows and hapten-antigenic spreading; and model 1C is autoimmunity to immunoglobulin-G (IgG), overlapping with spreading to other IgG-inducers, sudden spreading of inciters, and food-contaminating chemicals. Model 2A is chemical and stress overload, including comparison with the susceptibility/sensitization/triggering/spreading model; model 2B is genetic mercury allergy, overlapping with: heavy metals/zinc displacement and childhood/gestational mercury exposures; and model 3 is MCS as evolution and learning. Remarks are offered on current MCS research. Problems with clinical measurement are suggested on the basis of IDS models. Large-sample patient self-report epidemiology is described as an alternative or addition to clinical biomarker and animal testing. Images Figure 1 Figure 2 Figure 3 Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 PMID:9539008

Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.

PubMed

Karimzadeh, Parvaneh; Naderi, Samaneh; Modarresi, Farzaneh; Dastsooz, Hassan; Nemati, Hamid; Farokhashtiani, Tayebeh; Shamsian, Bibi Shahin; Inaloo, Soroor; Faghihi, Mohammad Ali

2017-07-17

Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly. The disease is characterized by slowly progressive neurodegeneration and mild skeletal changes. Due to the later age of onset and uncharacteristic presentation, diagnosis is frequently puzzled with other ataxic and purely neurological disorders. Up to now, 3-4 types of GM1-gangliosidosis have been reported and among them type I is the most common phenotype with the age of onset around 6 months. Various forms of GM1-gangliosidosis are caused by GLB1 gene mutations but severity of the disease and age of onset are directly related to the position and the nature of deleterious mutations. However, due to its unique genetic cause and overlapping clinical features, some researchers believe that GM1 gangliosidosis represents an overlapped disease spectrum instead of four distinct types. Here, we report a less frequent type of autosomal recessive GM1 gangliosidosis with perplexing clinical presentation in three families in the southwest part of Iran, who are unrelated but all from "Lurs" ethnic background. To identify disease-causing mutations, Whole Exome Sequencing (WES) utilizing next generation sequencing was performed. Four patients from three families were investigated with the age of onset around 3 years old. Clinical presentations were ataxia, gate disturbances and dystonia leading to wheelchair-dependent disability, regression of intellectual abilities, and general developmental regression. They all were born in consanguineous families with no previous documented similar disease in their parents. A homozygote missense mutation in GLB1 gene (c. 601 G > A, p.R201C) was found in all patients. Using Sanger sequencing this identified mutation was confirmed in the proband, their parents, grandparents, and extended family members, confirming its autosomal recessive pattern of inheritance. Our study identified a rare pathogenic missense mutation in GLB1 gene in patients with complex neurodevelopmental findings, which can extend the list of differential diagnoses for childhood ataxia in Iranian patients.

Comparison of Patient Outcomes and Cost of Overlapping Versus Nonoverlapping Spine Surgery.

PubMed

Zygourakis, Corinna C; Sizdahkhani, Saman; Keefe, Malla; Lee, Janelle; Chou, Dean; Mummaneni, Praveen V; Ames, Christopher P

2017-04-01

Overlapping surgery recently has gained significant media attention, but there are limited data on its safety and efficacy. To date, there has been no analysis of overlapping surgery in the field of spine. Our goal was to compare overlapping versus nonoverlapping spine surgery patient outcomes and cost. A retrospective review was undertaken of 2319 spine surgeries (n = 848 overlapping; 1471 nonoverlapping) performed by 3 neurosurgery attendings from 2012 to 2015 at the University of California San Francisco. Collected variables included patient age, sex, insurance, American Society of Anesthesiology score, severity of illness, risk of mortality, procedure type, surgeon, day of surgery, source of transfer, admission type, overlapping versus nonoverlapping surgery (≥1 minute of overlapping procedure time), Medicare-Severity Diagnosis-Related Group, osteotomy, and presence of another attending/fellow/resident. Univariate, then multivariate mixed-effect models were used to evaluate the effect of the collected variables on the following outcomes: procedure time, estimated blood loss, length of stay, discharge status, 30-day mortality, 30-day unplanned readmission, unplanned return to OR, and total hospital cost. Urgent spine cases were more likely to be done in an overlapping fashion (all P < 0.01). After we adjusted for patient demographics, clinical indicators, and procedure characteristics, overlapping surgeries had longer procedure times (estimate = 26.17; P < 0.001) and lower rates of discharge to home (odds ratio 0.65; P < 0.001), but equivalent rates of 30-day mortality, readmission, return to the operating room, estimated blood loss, length of stay, and total hospital cost (all P = ns). Overlapping spine surgery may be performed safely at our institution, although continued monitoring of patient outcomes is necessary. Overlapping surgery does not lead to greater hospital costs. Copyright © 2017 Elsevier Inc. All rights reserved.

xMSanalyzer: automated pipeline for improved feature detection and downstream analysis of large-scale, non-targeted metabolomics data.

PubMed

Uppal, Karan; Soltow, Quinlyn A; Strobel, Frederick H; Pittard, W Stephen; Gernert, Kim M; Yu, Tianwei; Jones, Dean P

2013-01-16

Detection of low abundance metabolites is important for de novo mapping of metabolic pathways related to diet, microbiome or environmental exposures. Multiple algorithms are available to extract m/z features from liquid chromatography-mass spectral data in a conservative manner, which tends to preclude detection of low abundance chemicals and chemicals found in small subsets of samples. The present study provides software to enhance such algorithms for feature detection, quality assessment, and annotation. xMSanalyzer is a set of utilities for automated processing of metabolomics data. The utilites can be classified into four main modules to: 1) improve feature detection for replicate analyses by systematic re-extraction with multiple parameter settings and data merger to optimize the balance between sensitivity and reliability, 2) evaluate sample quality and feature consistency, 3) detect feature overlap between datasets, and 4) characterize high-resolution m/z matches to small molecule metabolites and biological pathways using multiple chemical databases. The package was tested with plasma samples and shown to more than double the number of features extracted while improving quantitative reliability of detection. MS/MS analysis of a random subset of peaks that were exclusively detected using xMSanalyzer confirmed that the optimization scheme improves detection of real metabolites. xMSanalyzer is a package of utilities for data extraction, quality control assessment, detection of overlapping and unique metabolites in multiple datasets, and batch annotation of metabolites. The program was designed to integrate with existing packages such as apLCMS and XCMS, but the framework can also be used to enhance data extraction for other LC/MS data software.

Piperacillin-tazobactam-induced linear IgA bullous dermatosis presenting clinically as Stevens-Johnson syndrome/toxic epidermal necrolysis overlap.

PubMed

Adler, N R; McLean, C A; Aung, A K; Goh, M S Y

2017-04-01

Linear IgA bullous dermatosis (LABD) is a subepidermal autoimmune bullous disease characterized by linear IgA deposition at the basement membrane zone, which is visualized by direct immunofluorescence. Patients with LABD typically present with widespread vesicles and bullae; however, this is not necessarily the case, as the clinical presentation of this disease is heterogeneous. LABD clinically presenting as Stevens-Johnson syndrome (SJS) or toxic epidermal necrolysis (TEN) is an infrequent, yet well-described phenomenon. Most cases of LABD are idiopathic, but some cases are drug-induced. Multiple drugs have been implicated in the development of LABD. We report a case of piperacillin-tazobactam-induced LABD presenting clinically as SJS/TEN overlap. This is the first reported case of a strong causal association between piperacillin-tazobactam and the development of LABD. © 2017 British Association of Dermatologists.

Stratified Mucin-Producing Intraepithelial Lesion of the Cervix: Subtle Features Not to Be Missed.

PubMed

Schwock, Joerg; Ko, Hyang Mi; Dubé, Valérie; Rouzbahman, Marjan; Cesari, Matthew; Ghorab, Zeina; Geddie, William R

2016-01-01

Stratified mucin-producing intraepithelial lesion (SMILE) is an uncommon premalignant lesion of the uterine cervix. A detailed examination of preinvasive SMILE cases including a comparison of the cytologic features with usual-type adenocarcinoma in situ (AIS) and human papillomavirus (HPV) genotyping was performed. Excisions and preceding Papanicolaou (Pap) tests were retrieved from the files of 2 tertiary care centers. Histologic review estimated the lesional SMILE proportion. Pap tests were reviewed and assessed for architectural, cellular and background features. Cobas® HPV test was performed. 13 cases were identified. Mean/median patient age was 35/33 years (range 23-51 years). Concurrent high-grade squamous intraepithelial lesion was found in 10/13 (77%) and AIS in 8/13 (62%) cases. In 6 cases, SMILE was dominant (≥50%) and represented in 5/6 corresponding Pap tests. Cytology interpretations differed more often in the SMILE-dominant group (p < 0.05). SMILE and AIS had overlapping features. Feathering and prominent nucleoli were absent in SMILE. HPV DNA was detected in all 12 cases tested. HPV 18 was most common (7/12). Excisions with positive/suspicious margins were reported in 5/6 SMILE-dominant versus 3/7 nondominant cases. SMILE is best considered as an AIS variant for cytologic, etiologic and management purposes. Cytologic features overlap with AIS, but are more subtle and easily missed. HPV testing may play a role in facilitating SMILE detection. © 2016 S. Karger AG, Basel.

Mutations in the S gene and in the overlapping reverse transcriptase region in chronic hepatitis B Chinese patients with coexistence of HBsAg and anti-HBs.

PubMed

Ding, Feng; Miao, Xi-Li; Li, Yan-Xia; Dai, Jin-Fen; Yu, Hong-Gang

2016-01-01

The mechanism underlying the coexistence of hepatitis B surface antigen and antibodies to HBsAg in chronic hepatitis B patients remains unknown. This research aimed to determine the clinical and virological features of the rare pattern. A total of 32 chronic hepatitis B patients infected by HBV genotype C were included: 15 carrying both HBsAg and anti-HBs (group I) and 17 solely positive for HBsAg (group II). S gene and reverse transcriptase region sequences were amplified, sequenced and compared with the reference sequences. The amino acid variability within major hydrophilic region, especially the "a" determinant region, and within reverse transcriptase for regions overlapping the major hydrophilic region in group I is significantly higher than those in group II. Mutation sI126S/T within the "a" determinant was the most frequent change, and only patients from group I had the sQ129R, sG130N, sF134I, sG145R amino acid changes, which are known to alter immunogenicity. In chronic patients, the concurrent HBsAg/anti-HBs serological profile is associated with an increased aa variability in several key areas of HBV genome. Additional research on these genetic mutants are needed to clarify their biological significance for viral persistence. Copyright © 2015 Elsevier Editora Ltda. All rights reserved.

Tics in TACs: A Step into an Avalanche? Systematic Literature Review and Conclusions.

PubMed

Wöber, Christian

2017-11-01

Trigeminal autonomic cephalalgias (TACs) comprise cluster headache, paroxysmal hemicrania, short-lasting unilateral neuralgiform headache attacks, and hemicrania continua. In some cases, trigeminal neuralgia (TN, "tic douloureux") or TN-like pain may co-occur with TACs. This article will review the co-occurrence and overlap of TACs and tics in order to contribute to a better understanding of the issue and an improved management of the patients. For performing a systematic literature review Pubmed was searched using a total of ten terms. The articles identified were screened for further articles of relevance. TACs are related to tics in various ways. TN or TN-like paroxysms may co-occur with CH, PH, and HC, labeled as cluster-tic syndrome, PH-tic syndrome, and HC-tic syndrome. Such co-occurrence was not only found in the primary TACs but also in secondary headaches resembling TACs. The initial onset of TAC and tic may be simultaneous or separated by months or years. In acute attacks, tic and TAC may occur concurrently or much more often independently of each other. The term "cluster-tic syndrome" was also used in patients with a single type of pain in a twilight zone between TACs and TN fulfilling none of the relevant diagnostic criteria. Short-lasting neuralgiform headache attacks overlap with TN in terms of clinical features, imaging findings, and therapy. © 2017 American Headache Society.

Lung adenocarcinoma mimicking pulmonary fibrosis-a case report.

PubMed

Mehić, Bakir; Duranović Rayan, Lina; Bilalović, Nurija; Dohranović Tafro, Danina; Pilav, Ilijaz

2016-09-13

Lung cancer is usually presented with cough, dyspnea, pain and weight loss, which is overlapping with symptoms of other lung diseases such as pulmonary fibrosis. Pulmonary fibrosis shows characteristic reticular and nodular pattern, while lung cancers are mostly presented with infiltrative mass, thick-walled cavitations or a solitary nodule with spiculated borders. If the diagnosis is established based on clinical symptoms and CT findings, it would be a misapprehension. We report a case of lung adenocarcinoma whose symptoms as well as clinical images overlapped strongly with pulmonary fibrosis. The patient's non-productive cough, progressive dyspnea, restrictive pattern of pulmonary function test and CT scans (showing reticular interstitial opacities) were all indicative of pulmonary fibrosis. The patient underwent a treatment consisting of corticosteroids and antibiotics, to no avail. Histopathology of the lung showed that the patient suffered from mucinous adenocarcinoma. Albeit the immunohistochemical staining was not consistent with lung adenocarcinoma, tumor's morphological characteristics were consistent, and were used to make the definitive diagnosis. Given the fact that radiography cannot always make a clear-cut difference between pulmonary fibrosis and lung adenocarcinomas, and that clinical symptoms often overlap, histological examination should be considered as gold standard for diagnosis of lung adenocarcinoma.

Predictive Habitat Use of California Sea Lions and Its Implications for Fisheries Management

NASA Astrophysics Data System (ADS)

Briscoe, D.

2016-02-01

Advancements in satellite telemetry and remotely-sensed oceanography have shown that species and the environment they utilize are highly dynamic in space and time. However, biophysical features often overlap with human use. For this reason, spatially-explicit management approaches may only provide a snapshot of protection for a highly mobile species throughout its range. As a migratory species, California sea lions (Zalophus californianus) utilize dynamic oceanographic features that overlap with the California swordfish fishery, and are subject to incidental catch. The development of near-real time tools can assist in management efforts to mitigate against human impacts, such as fisheries interactions and dynamic marine species. Here, we combine near-real time remotely-sensed satellite oceanography, animal tracking data, and Generalized Additive Mixed Models (GAMMs) to: a) determine suitable habitat for 75 female California sea lions throughout their range, b) forecast when and where these non-target interactions are likely to occur, and c) validate these models with observed data of such interactions. Model results can be used to provide resource management that are highly responsive to the movement of managed species, ocean users, and underlying ocean features.

Predictive Habitat Use of California Sea Lions and Its Implications for Fisheries Management

NASA Astrophysics Data System (ADS)

Briscoe, D.

2016-12-01

Advancements in satellite telemetry and remotely-sensed oceanography have shown that species and the environment they utilize are highly dynamic in space and time. However, biophysical features often overlap with human use. For this reason, spatially-explicit management approaches may only provide a snapshot of protection for a highly mobile species throughout its range. As a migratory species, California sea lions (Zalophus californianus) utilize dynamic oceanographic features that overlap with the California swordfish fishery, and are subject to incidental catch. The development of near-real time tools can assist in management efforts to mitigate against human impacts, such as fisheries interactions and dynamic marine species. Here, we combine near-real time remotely-sensed satellite oceanography, animal tracking data, and Generalized Additive Mixed Models (GAMMs) to: a) determine suitable habitat for 75 female California sea lions throughout their range, b) forecast when and where these non-target interactions are likely to occur, and c) validate these models with observed data of such interactions. Model results can be used to provide resource management that are highly responsive to the movement of managed species, ocean users, and underlying ocean features.

Nonlocal atlas-guided multi-channel forest learning for human brain labeling

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

Ma, Guangkai; Gao, Yaozong; Wu, Guorong

Purpose: It is important for many quantitative brain studies to label meaningful anatomical regions in MR brain images. However, due to high complexity of brain structures and ambiguous boundaries between different anatomical regions, the anatomical labeling of MR brain images is still quite a challenging task. In many existing label fusion methods, appearance information is widely used. However, since local anatomy in the human brain is often complex, the appearance information alone is limited in characterizing each image point, especially for identifying the same anatomical structure across different subjects. Recent progress in computer vision suggests that the context features canmore » be very useful in identifying an object from a complex scene. In light of this, the authors propose a novel learning-based label fusion method by using both low-level appearance features (computed from the target image) and high-level context features (computed from warped atlases or tentative labeling maps of the target image). Methods: In particular, the authors employ a multi-channel random forest to learn the nonlinear relationship between these hybrid features and target labels (i.e., corresponding to certain anatomical structures). Specifically, at each of the iterations, the random forest will output tentative labeling maps of the target image, from which the authors compute spatial label context features and then use in combination with original appearance features of the target image to refine the labeling. Moreover, to accommodate the high inter-subject variations, the authors further extend their learning-based label fusion to a multi-atlas scenario, i.e., they train a random forest for each atlas and then obtain the final labeling result according to the consensus of results from all atlases. Results: The authors have comprehensively evaluated their method on both public LONI-LBPA40 and IXI datasets. To quantitatively evaluate the labeling accuracy, the authors use the dice similarity coefficient to measure the overlap degree. Their method achieves average overlaps of 82.56% on 54 regions of interest (ROIs) and 79.78% on 80 ROIs, respectively, which significantly outperform the baseline method (random forests), with the average overlaps of 72.48% on 54 ROIs and 72.09% on 80 ROIs, respectively. Conclusions: The proposed methods have achieved the highest labeling accuracy, compared to several state-of-the-art methods in the literature.« less

Nonlocal atlas-guided multi-channel forest learning for human brain labeling

PubMed Central

Ma, Guangkai; Gao, Yaozong; Wu, Guorong; Wu, Ligang; Shen, Dinggang

2016-01-01

Purpose: It is important for many quantitative brain studies to label meaningful anatomical regions in MR brain images. However, due to high complexity of brain structures and ambiguous boundaries between different anatomical regions, the anatomical labeling of MR brain images is still quite a challenging task. In many existing label fusion methods, appearance information is widely used. However, since local anatomy in the human brain is often complex, the appearance information alone is limited in characterizing each image point, especially for identifying the same anatomical structure across different subjects. Recent progress in computer vision suggests that the context features can be very useful in identifying an object from a complex scene. In light of this, the authors propose a novel learning-based label fusion method by using both low-level appearance features (computed from the target image) and high-level context features (computed from warped atlases or tentative labeling maps of the target image). Methods: In particular, the authors employ a multi-channel random forest to learn the nonlinear relationship between these hybrid features and target labels (i.e., corresponding to certain anatomical structures). Specifically, at each of the iterations, the random forest will output tentative labeling maps of the target image, from which the authors compute spatial label context features and then use in combination with original appearance features of the target image to refine the labeling. Moreover, to accommodate the high inter-subject variations, the authors further extend their learning-based label fusion to a multi-atlas scenario, i.e., they train a random forest for each atlas and then obtain the final labeling result according to the consensus of results from all atlases. Results: The authors have comprehensively evaluated their method on both public LONI_LBPA40 and IXI datasets. To quantitatively evaluate the labeling accuracy, the authors use the dice similarity coefficient to measure the overlap degree. Their method achieves average overlaps of 82.56% on 54 regions of interest (ROIs) and 79.78% on 80 ROIs, respectively, which significantly outperform the baseline method (random forests), with the average overlaps of 72.48% on 54 ROIs and 72.09% on 80 ROIs, respectively. Conclusions: The proposed methods have achieved the highest labeling accuracy, compared to several state-of-the-art methods in the literature. PMID:26843260

Neural pattern similarity underlies the mnemonic advantages for living words.

PubMed

Xiao, Xiaoqian; Dong, Qi; Chen, Chuansheng; Xue, Gui

2016-06-01

It has been consistently shown that words representing living things are better remembered than words representing nonliving things, yet the underlying cognitive and neural mechanisms have not been clearly elucidated. The present study used both univariate and multivariate pattern analyses to examine the hypotheses that living words are better remembered because (1) they draw more attention and/or (2) they share more overlapping semantic features. Subjects were asked to study a list of living and nonliving words during a semantic judgment task. An unexpected recognition test was administered 30 min later. We found that subjects recognized significantly more living words than nonliving words. Results supported the overlapping semantic feature hypothesis by showing that (a) semantic ratings showed greater semantic similarity for living words than for nonliving words, (b) there was also significantly greater neural global pattern similarity (nGPS) for living words than for nonliving words in the posterior portion of left parahippocampus (LpPHG), (c) the nGPS in the LpPHG reflected the rated semantic similarity, and also mediated the memory differences between two semantic categories, and (d) greater univariate activation was found for living words than for nonliving words in the left hippocampus (LHIP), which mediated the better memory performance for living words and might reflect greater semantic context binding. In contrast, although living words were processed faster and elicited a stronger activity in the dorsal attention network, these differences did not mediate the animacy effect in memory. Taken together, our results provide strong support to the overlapping semantic features hypothesis, and emphasize the important role of semantic organization in episodic memory encoding. Copyright © 2016 Elsevier Ltd. All rights reserved.

Motor Speech Disorders Associated with Primary Progressive Aphasia

PubMed Central

Duffy, Joseph R.; Strand, Edythe A.; Josephs, Keith A.

2014-01-01

Background Primary progressive aphasia (PPA) and conditions that overlap with it can be accompanied by motor speech disorders. Recognition and understanding of motor speech disorders can contribute to a fuller clinical understanding of PPA and its management as well as its localization and underlying pathology. Aims To review the types of motor speech disorders that may occur with PPA, its primary variants, and its overlap syndromes (progressive supranuclear palsy syndrome, corticobasal syndrome, motor neuron disease), as well as with primary progressive apraxia of speech. Main Contribution The review should assist clinicians' and researchers' understanding of the relationship between motor speech disorders and PPA and its major variants. It also highlights the importance of recognizing neurodegenerative apraxia of speech as a condition that can occur with little or no evidence of aphasia. Conclusion Motor speech disorders can occur with PPA. Their recognition can contribute to clinical diagnosis and management of PPA and to understanding and predicting the localization and pathology associated with PPA variants and conditions that can overlap with them. PMID:25309017

Fibroblastic connective tissue nevus.

PubMed

Velez, Moises J; Billings, Steven D; Weaver, Joshua A

2016-01-01

Fibroblastic connective tissue nevus (FCTN) is a newly recognized, benign cutaneous mesenchymal lesion of fibroblasts/myofibroblastic lineage, which expands the classification of connective tissue nevi. We present three cases of FCTN and discuss significant clinical, morphologic and immunophenotypic overlap with dermatomyofibroma. Our cases were from young women, aged 32, 24 and 10, and presented as 1.2 and 1 cm nodules on the posterior neck and right upper flank, respectively while presenting as a linear plaque of the right posterior thigh in the latter case. The lesions showed a poorly circumscribed proliferation of hypercellular spindle cells arranged in short to longer intersecting fascicles entrapping adnexal structures. Superficial adipose tissue was also entrapped in one case. The spindle cells had fibroblastic features with pale eosinophilic cytoplasmic extensions and inconspicuous nucleoli. The spindle cells were positive for CD34 in two cases. One case was negative for CD34, smooth muscle actin (SMA), desmin and S100. The overall features were consistent with a diagnosis of FCTN. In two cases, we further elucidated the fibroblastic differentiation of the spindle cells in FCTN with electron microscopy, which has not been previously described. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.