Atypical presentations of older adults at the emergency department and associated factors.

PubMed

Limpawattana, Panita; Phungoen, Pariwat; Mitsungnern, Thapanawong; Laosuangkoon, Wannisa; Tansangworn, Natthida

2016-01-01

The objectives were to determine the prevalence of atypical presentations among older adults at the Emergency Department (ED) of a tertiary care hospital and to identify factors associated with these presentations. A retrospective medical record audit was randomly reviewed in 633 patients who were aged ≥ 65 years who attended the ED of Srinagarind Medical School Hospital in 2013. Demographic data were collected and were analyzed using descriptive statistics. Regression analysis was used to analyze the variables associated with the outcomes. The prevalence of an atypical presentation was 28.6% (181/633 cases). The failure to develop fever with a disease known to cause fever was the most common atypical presentation of illness (34.42%). Independent factors associated with atypical presentations were complicated urinary tract infection (UTI) (odds ratios (OR) 4.66, 95% confidence interval (CI) 2.0, 10.84, p=0.00) and a background of dementia (OR 3.48, 95% CI 1.38, 8.77, p=0.008). The prevalence of atypical presentations of older adults at the ED was about a third. The absence of fever with a disease known to cause fever was the most common atypical presentation. Complicated UTI and demented patients were the independent risk factors associated with the atypical presentations. Early awareness of non-specific presentations and applying comprehensive geriatric assessments among older patients at the ED is recommended. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Can Atypical Antipsychotic Augmentation Reduce Subsequent Treatment Failure More Effectively Among Depressed Patients with a Higher Degree of Treatment Resistance? A Meta-Analysis of Randomized Controlled Trials

PubMed Central

Wang, Hee Ryung; Woo, Young Sup; Ahn, Hyeong Sik; Ahn, Il Min; Kim, Hyun Jung; Bahk, Won-Myong

2015-01-01

Background: Atypical antipsychotic augmentation was demonstrated to be efficacious in treatment-resistant depression (TRD) in previous meta-analyses. We investigate whether there are differences in the effect size of atypical antipsychotic augmentation in major depressive disorder according to the degree of treatment resistance. Methods: A comprehensive search of four databases identified 11 randomized controlled trials. The 11 trials, which included 3 341 participants, were pooled using a random-effects meta-analysis. Results: Atypical antipsychotic augmentation of antidepressant therapy showed superior efficacy compared to antidepressant monotherapy in TRD in terms of both response and remission rates (response, risk ratio [RR] = 1.38, 95% confidence interval [CI] = 1.25 to 1.53; remission, RR = 1.62, 95% CI = 1.42 to 1.85). In addition, regarding response rates in the TRD trials, atypical antipsychotic augmentation exhibited significantly different effect sizes according to the degree of treatment resistance (TRD 1: RR = 1.24; TRD 2: RR = 1.37; TRD 2–4: RR = 1.58). In non-TRD trials, atypical antipsychotic augmentation failed to show superior efficacy over antidepressant monotherapy in terms of remission rates (RR = 0.89; 95% CI = 0.69 to 1.14). Atypical antipsychotic augmentation of antidepressant therapy exhibits greater effect size in patients with a higher degree of treatment resistance. Conclusions: This finding strengthens the rationale for considering atypical antipsychotic augmentation among depressed patients with multiple previous treatment failures in clinical practice. The efficacy of atypical antipsychotic augmentation for non-TRD seems to be different from that for TRD and, thus, further studies of non-TRD populations are needed. PMID:25770098

Atypical manifestations of Epstein-Barr virus in children: a diagnostic challenge.

PubMed

Bolis, Vasileios; Karadedos, Christos; Chiotis, Ioannis; Chaliasos, Nikolaos; Tsabouri, Sophia

2016-01-01

Clarify the frequency and the pathophysiological mechanisms of the rare manifestations of Epstein-Barr virus infection. Original research studies published in English between 1985 and 2015 were selected through a computer-assisted literature search (PubMed and Scopus). Computer searches used combinations of key words relating to "EBV infections" and "atypical manifestation." Epstein-Barr virus is a herpes virus responsible for a lifelong latent infection in almost every adult. The primary infection concerns mostly children and presents with the clinical syndrome of infectious mononucleosis. However, Epstein-Barr virus infection may exhibit numerous rare, atypical and threatening manifestations. It may cause secondary infections and various complications of the respiratory, cardiovascular, genitourinary, gastrointestinal, and nervous systems. Epstein-Barr virus also plays a significant role in pathogenesis of autoimmune diseases, allergies, and neoplasms, with Burkitt lymphoma as the main representative of the latter. The mechanisms of these manifestations are still unresolved. Therefore, the main suggestions are direct viral invasion and chronic immune response due to the reactivation of the latent state of the virus, or even various DNA mutations. Physicians should be cautious about uncommon presentations of the viral infection and consider EBV as a causative agent when they encounter similar clinical pictures. Copyright © 2016 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

Original Mycobacterial Sin, a consequence of highly homologous antigens?

PubMed

Jenkins, A O; Michel, A; Rutten, V

2017-05-01

The role of antigens shared between Mycobacteria in in-vivo cross-reactive immune responses in host animals, have been reported to be responsible for reduced BCG vaccination efficacy as well reduced specificity of routine immunological diagnostic tests. This presents with significant disease control challenges in humans and animals. The present review highlights the results of previous studies on the effect of pre-sensitization to environmental mycobacteria on either pathogenic mycobacteria and/or M. bovis BCG, in experimental animals. It also takes an in-depth view into assessing the genetic similarities and relationships between atypical mycobacteria and Mycobacterium tuberculosis complex (MTBC) and how they might explain the immunological imprint of environmental mycobacteria in directing the hosts' immune response upon subsequent exposure to other classes of mycobacteria. The outcome of this review suggests that genetic closeness between particular atypical mycobacteria and MTBC usually indicate a higher level of homology for certain shared protective antigens. This ultimately results in a higher level of cross reactive immune responses as compared with other atypical mycobacteria that are further away genetically. This would explain the different effects of environmental mycobacteria on MTBC that have been reported in the different studies. In other words the direction of the host immune system in response to exposure to MTBC would depend on the type of environmental mycobacteria that was encountered in the initial exposure. We also explain these mycobacterial interactions in the context of the phenomenon of "Original Mycobacterial Sin". The effects of these inevitable mycobacterial interactions on field diagnosis and control by vaccination and how to circumvent them are discussed. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

Modulation of A-type potassium channels by a family of calcium sensors.

PubMed

An, W F; Bowlby, M R; Betty, M; Cao, J; Ling, H P; Mendoza, G; Hinson, J W; Mattsson, K I; Strassle, B W; Trimmer, J S; Rhodes, K J

2000-02-03

In the brain and heart, rapidly inactivating (A-type) voltage-gated potassium (Kv) currents operate at subthreshold membrane potentials to control the excitability of neurons and cardiac myocytes. Although pore-forming alpha-subunits of the Kv4, or Shal-related, channel family form A-type currents in heterologous cells, these differ significantly from native A-type currents. Here we describe three Kv channel-interacting proteins (KChIPs) that bind to the cytoplasmic amino termini of Kv4 alpha-subunits. We find that expression of KChIP and Kv4 together reconstitutes several features of native A-type currents by modulating the density, inactivation kinetics and rate of recovery from inactivation of Kv4 channels in heterologous cells. All three KChIPs co-localize and co-immunoprecipitate with brain Kv4 alpha-subunits, and are thus integral components of native Kv4 channel complexes. The KChIPs have four EF-hand-like domains and bind calcium ions. As the activity and density of neuronal A-type currents tightly control responses to excitatory synaptic inputs, these KChIPs may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium.

Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes.

PubMed

Bujan-Rivas, Segundo; Basagaña, Maria; Sena, Francisca; Méndez, Maria; Dordal, Maria Teresa; Gonzalez-Roca, Eva; Ruiz-Ortiz, Estibaliz; Mensa-Vilaró, Anna; Plaza, Susana; Modesto, Consuelo; Ordi-Ros, Josep; Yagüe, Jordi; Martínez-Valle, Ferrán; Aróstegui, Juan Ignacio

2017-01-01

Cryopyrin-associated periodic syndromes (CAPS) usually start during infancy as an urticarial-like rash and a marked acute phase response, with additional manifestations appearing during its evolution. The aim of this study was to expand the clinical diversity of CAPS by the description of novel atypical features. Clinical data were collected from patients' medical charts. Sanger sequencing analyzed NLRP3. Response to anti-IL-1 blockade was evaluated by clinical assessments and by measurements of laboratory parameters. Seventeen patients from two families (A and B), carrying the p.Ala439Thr and p.Arg260Trp NLRP3 mutations respectively, were enrolled. The disease was unexpectedly atypical in all members of Family A, with a 16-year-old asymptomatic carrier, and onset in adulthood associated with absence of skin lesions in four affected members. Surprisingly, one patient from each family suffered from severe haemorrhagic cystitis due to AA amyloidosis in the urinary bladder. Members of Family B displayed a classical phenotype, with two patients suffering from olfactive disorders. Our evidence suggests that CAPS may occasionally be presented as a late-onset, recurrent inflammatory disease without urticarial-like rash. In some patients, AA amyloidosis in strange locations like urinary bladder may complicate the clinical course. The response to IL-1 blockade in these atypical CAPS was similar to that described in classical forms. Consequently, we suggest that CAPS should be included in the differential diagnosis of adult patients with unexplained, recurrent inflammatory diseases, and once confirmed, the early initiation of anti-IL-1 blockade will probably prevent the development of life-threatening complications.

Treatment of Low-Risk Endometrial Cancer and Complex Atypical Hyperplasia With the Levonorgestrel-Releasing Intrauterine Device.

PubMed

Pal, Navdeep; Broaddus, Russell R; Urbauer, Diana L; Balakrishnan, Nyla; Milbourne, Andrea; Schmeler, Kathleen M; Meyer, Larissa A; Soliman, Pamela T; Lu, Karen H; Ramirez, Pedro T; Ramondetta, Lois; Bodurka, Diane C; Westin, Shannon N

2018-01-01

To assess efficacy of the levonorgestrel-releasing intrauterine device (LNG-IUD) for treatment of complex atypical hyperplasia or low-grade endometrial cancer. This retrospective case series included all patients treated with the LNG-IUD for complex atypical hyperplasia or early-grade endometrial cancer from January 2003 to June 2013. Response rates were calculated and the association of response with clinicopathologic factors, including age, body mass index, and uterine size, was determined. Forty-six patients diagnosed with complex atypical hyperplasia or early-grade endometrial cancer were treated with the LNG-IUD. Of 32 evaluable patients at the 6-month time point, 15 had complex atypical hyperplasia (47%), nine had G1 endometrial cancer (28%), and eight had grade 2 endometrial cancer (25%). Overall response rate was 75% (95% CI 57-89) at 6 months; 80% (95% CI 52-96) in complex atypical hyperplasia, 67% (95% CI 30-93) in grade 1 endometrial cancer, and 75% (CI 35-97) in grade 2 endometrial cancer. Of the clinicopathologic features evaluated, there was a trend toward the association of lack of exogenous progesterone effect in the pathology specimen with nonresponse to the IUD (P=.05). Median uterine diameter was 1.3 cm larger in women who did not respond to the IUD (P=.04). Levonorgestrel-releasing IUD therapy for the conservative treatment of complex atypical hyperplasia or early-grade endometrial cancer resulted in return to normal histology in a majority of patients.

Autism Tendencies and Psychosis Proneness Interactively Modulate Saliency Cost

PubMed Central

Abu-Akel, Ahmad; Apperly, Ian A.; Wood, Stephen J.; Hansen, Peter C.; Mevorach, Carmel

2017-01-01

Atypical responses to salient information are a candidate endophenotype for both autism and psychosis spectrum disorders. The present study investigated the costs and benefits of such atypicalities for saliency-based selection in a large cohort of neurotypical adults in whom both autism and psychosis expressions were assessed. Two experiments found that autism tendencies and psychosis proneness interactively modulated the cost incurred in the presence of a task-irrelevant salient distractor. Specifically, expressions of autism and psychosis had opposing effects on responses to salient information such that the benefits associated with high expressions for autism offset costs associated with high expressions for psychosis. The opposing influences observed on saliency cost may be driven by distinct attentional mechanisms that are differentially affected by expressions for autism and psychosis. PMID:27217269

Behavioral Activation for the Treatment of Atypical Depression: A Pilot Open Trial

ERIC Educational Resources Information Center

Weinstock, Lauren M.; Munroe, Mary K.; Miller, Ivan W.

2011-01-01

Psychosocial interventions for atypical depression (AD) have been relatively ignored in the clinical research literature, despite evidence that the atypical subtype of major depression is marked by earlier age of onset, longer duration of mood episode, greater symptom severity, and poorer response to pharmacologic treatment. Given the symptom…

An ophthalmologist survey-based study of the atypical presentations and current treatment practices of ocular toxoplasmosis in India.

PubMed

Basu, Soumyava; Biswas, Jyotirmay; Pleyer, Uwe; Pathangay, Avinash; Manohar Babu, B

2011-10-01

The last two decades have seen a paradigm shift in the understanding of ocular toxoplasmosis. Post-natally acquired infection with its atypical presentations, has emerged as a common form of the disease. We conducted a questionnaire-based survey to investigate the characteristics of atypical presentations and current treatment practices of ocular toxoplasmosis, in India. A written questionnaire was distributed to ophthalmologists at two major uveitis meetings, held in Hyderabad, India in January, 2009. It evaluated characteristics of atypical presentations of ocular toxoplasmosis and specific treatment-related issues in India. Of 37 respondents who completed the questionnaire, 28 (75.6%) found atypical presentations in less than one-fourth of ocular toxoplasmosis patients. Atypical presentations were mostly seen as primary retinitis lesion, and in healthy immuno-competent individuals. Most ophthalmologists (n = 28, 75.6%) thought viral retinitis to be the most common differential diagnosis for atypical ocular toxoplasmosis and relied on serological tests (n = 19, 51.3%) for the diagnosis. Twenty-three (62.1%) respondents treated all patients with active lesions. A diverse range of treatment regimens were used, trimethoprim-sulphamethoxazole combination being most common (n = 12, 32.4%). Corticosteroids were included in all regimens. Atypical presentations of ocular toxoplasmosis were identified by all ophthalmologists, participating in the survey, though not commonly by most. Treatment practices were diverse, reflecting the lack of consensus on this issue.

Preserved search asymmetry in the detection of fearful faces among neutral faces in individuals with Williams syndrome revealed by measurement of both manual responses and eye tracking.

PubMed

Hirai, Masahiro; Muramatsu, Yukako; Mizuno, Seiji; Kurahashi, Naoko; Kurahashi, Hirokazu; Nakamura, Miho

2017-01-01

Individuals with Williams syndrome (WS) exhibit an atypical social phenotype termed hypersociability. One theory accounting for hypersociability presumes an atypical function of the amygdala, which processes fear-related information. However, evidence is lacking regarding the detection mechanisms of fearful faces for individuals with WS. Here, we introduce a visual search paradigm to elucidate the mechanisms for detecting fearful faces by evaluating the search asymmetry; the reaction time when both the target and distractors were swapped was asymmetrical. Eye movements reflect subtle atypical attentional properties, whereas, manual responses are unable to capture atypical attentional profiles toward faces in individuals with WS. Therefore, we measured both eye movements and manual responses of individuals with WS and typically developed children and adults in visual searching for a fearful face among neutral faces or a neutral face among fearful faces. Two task measures, namely reaction time and performance accuracy, were analyzed for each stimulus as well as gaze behavior and the initial fixation onset latency. Overall, reaction times in the WS group and the mentally age-matched control group were significantly longer than those in the chronologically age-matched group. We observed a search asymmetry effect in all groups: when a neutral target facial expression was presented among fearful faces, the reaction times were significantly prolonged in comparison with when a fearful target facial expression was displayed among neutral distractor faces. Furthermore, the first fixation onset latency of eye movement toward a target facial expression showed a similar tendency for manual responses. Although overall responses in detecting fearful faces for individuals with WS are slower than those for control groups, search asymmetry was observed. Therefore, cognitive mechanisms underlying the detection of fearful faces seem to be typical in individuals with WS. This finding is discussed with reference to the amygdala account explaining hypersociability in individuals with WS.

Atypical Presentation of Herpes Simplex Virus Type 2 Infection Refractory to Treatment With Acyclovir in 2 Hematologic Patients.

PubMed

Nieto Rodríguez, D; Sendagorta Cudós, E; Rueda Carnero, J M; Herranz Pinto, P

2017-12-01

Herpesvirus infections are not uncommon in hematologic patients. Our first patient, diagnosed with chronic lymphatic leukemia, presented extensive genital herpes infection refractory to treatment with acyclovir and with a partial response to foscarnet, which had to be withdrawn due to systemic adverse effects. The second patient, diagnosed with follicular Hodgkin lymphoma, presented hypertrophic herpes infection refractory to treatment with acyclovir but that responded to intralesional cidofovir and topical imiquimod. As in other immunodepressed patients, herpesvirus infection in hematologic patients can present atypical manifestations, as well as resistance to treatments that act via the viral thymidine kinase. A high level of clinical suspicion is therefore needed to make an early diagnosis, together with extensive knowledge of the different treatments available. Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

Visual Exemplification and Skin Cancer: The Utility of Exemplars in Promoting Skin Self-Exams and Atypical Nevi Identification.

PubMed

King, Andy J

2016-07-01

The present article reports an experiment investigating untested propositions of exemplification theory in the context of messages promoting early melanoma detection. The study tested visual exemplar presentation types, incorporating visual persuasion principles into the study of exemplification theory and strategic message design. Compared to a control condition, representative visual exemplification was more effective at increasing message effectiveness by eliciting a surprise response, which is consistent with predictions of exemplification theory. Furthermore, participant perception of congruency between the images and text interacted with the type of visual exemplification to explain variation in message effectiveness. Different messaging strategies influenced decision making as well, with the presentation of visual exemplars resulting in people judging the atypicality of moles more conservatively. Overall, results suggest that certain visual messaging strategies may result in unintended effects of presenting people information about skin cancer. Implications for practice are discussed.

Atypical responses in patients with advanced melanoma, lung cancer, renal-cell carcinoma and other solid tumors treated with anti-PD-1 drugs: A systematic review.

PubMed

Queirolo, Paola; Spagnolo, Francesco

2017-09-01

Anti-programmed death receptor 1 (PD-1) drugs nivolumab and pembrolizumab were recently approved for the treatment of advanced melanoma and other solid tumors. Atypical patterns of response (i.e. tumor shrinkage or stabilization after initial progression) were observed in about 10% of metastatic melanoma patients treated with anti-cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) drug ipilimumab and were associated with improved survival; however, the rate of atypical response patterns to anti-PD-1 therapy is not clear. An electronic search was performed to identify clinical trials evaluating response to anti-PD-1 therapy with nivolumab and pembrolizumab in patients with advanced solid tumors. Thirty-eight studies were included in our analysis for a total of 7069 patients with advanced cancer treated with anti-PD-1 therapy. Responses were evaluated by unconventional response criteria in 19 trials and were observed for all cancer types but tumors with mismatch-repair deficiency and head and neck squamous cell carcinoma. Overall, 151 atypical responses were observed in 2400 patients (6%) evaluated by unconventional response criteria. The results of our systematic review highlight the clinical relevance of unconventional responses to anti-PD-1 therapy and support further investigation into the development of tools that may assist evaluation of the antitumor activity of immunotherapy. Copyright © 2017 Elsevier Ltd. All rights reserved.

A Study of the Familial and Career Attitudes of College Women Enrolled in Typical and Atypical Programs.

ERIC Educational Resources Information Center

Wilson, Marian L.

A study was conducted to determine if a disparity exists between the familial and occupational attitudes of women in typical and atypical careers. Questionnaire responses of 225 undergraduate women in three typical careers (home economics, nursing, and elementary education) and three atypical careers (engineering, pharmacy, and agriculture)…

Investigating Robustness of Item Response Theory Proficiency Estimators to Atypical Response Behaviors under Two-Stage Multistage Testing. ETS GRE® Board Research Report. ETS GRE®-16-03. ETS Research Report No. RR-16-22

ERIC Educational Resources Information Center

Kim, Sooyeon; Moses, Tim

2016-01-01

The purpose of this study is to evaluate the extent to which item response theory (IRT) proficiency estimation methods are robust to the presence of aberrant responses under the "GRE"® General Test multistage adaptive testing (MST) design. To that end, a wide range of atypical response behaviors affecting as much as 10% of the test items…

Utility of the Trauma Symptom Inventory's Atypical Response Scale in Detecting Malingered Post-Traumatic Stress Disorder

ERIC Educational Resources Information Center

Elhai, Jon D.; Gray, Matthew J.; Naifeh, James A.; Butcher, Jimmie J.; Davis, Joanne L.; Falsetti, Sherry A.; Best, Connie L.

2005-01-01

The authors examined the Trauma Symptom Inventorys (TSI) ability to discriminate 88 student post-traumatic stress disorder (PTSD) simulators screened for genuine PTSD from 48 clinical PTSD-diagnosed outpatients. Results demonstrated between-group differences on several TSI clinical scales and the Atypical Response (ATR) validity scale.…

Celiac disease in 87 children with typical and atypical symptoms in Black Sea region of Turkey.

PubMed

Dinler, Gönül; Atalay, Erdal; Kalayci, Ayhan Gazi

2009-11-01

Celiac disease presents with a spectrum of clinical disorders. The variety of clinical presentations largely depends on age and extraintestinal findings. This study aimed to determine typical and atypical cases according to presenting symptoms and to evaluate their biochemical and pathological parameters. Eighty-seven patients with celiac disease in our unit between 2000 and 2007 were reviewed. Their diagnosis was made by serological and histological examination. The patients were divided into two groups according to their typical or atypical symptoms. The mean age of the patients at diagnosis was 8.2 years (range, 1-18 years), but patients presenting with typical symptoms were younger than those presenting with atypical symptoms. The patients in the two groups did not differ significantly in sex, weight and height Z scores except age. Diarrhea (96.3%), abdominal distention (65.4%) and failure to thrive (60%) were the most common clinical presentations in the typical group, and short stature (62.5%) and anemia (31.2%) were the most common in the atypical group. Total/subtotal villous atrophy was significantly higher in the typical group than in the atypical group. Many children with celiac disease show an atypical form. The understanding of presentations of celiac disease may prevent delayed diagnosis. Celiac disease should be specially investigated in patients with recurrent iron deficiency anemia, short stature and autoimmune disorders.

Brief Report: Atypical Neuromagnetic Responses to Illusory Auditory Pitch in Children with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Brock, Jon; Bzishvili, Samantha; Reid, Melanie; Hautus, Michael; Johnson, Blake W.

2013-01-01

Atypical auditory perception is a widely recognised but poorly understood feature of autism. In the current study, we used magnetoencephalography to measure the brain responses of 10 autistic children as they listened passively to dichotic pitch stimuli, in which an illusory tone is generated by sub-millisecond inter-aural timing differences in…

Atypical depressive symptoms as a predictor of treatment response to exercise in Major Depressive Disorder.

PubMed

Rethorst, Chad D; Tu, Jian; Carmody, Thomas J; Greer, Tracy L; Trivedi, Madhukar H

2016-08-01

Effective treatment of Major Depressive Disorder (MDD) will require the development of alternative treatments and the ability for clinicians to match patients with the treatment likely to produce the greatest effect. We examined atypical depression subtype as a predictor of treatment response to aerobic exercise augmentation in persons with non-remitted MDD. Our results revealed a small-to-moderate effect, particularly in a group assigned to high-dose exercise (semi-partial eta-squared =0.0335, p=0.0735), indicating that those with atypical depression tended to have larger treatment response to exercise. Through this hypothesis-generating analysis, we indicate the need for research to examine depression subtype, along with other demographic, clinical and biological factors as predictors of treatment response to exercise. Copyright © 2016 Elsevier B.V. All rights reserved.

Blunted neural response to implicit negative facial affect in anorexia nervosa.

PubMed

Leppanen, Jenni; Cardi, Valentina; Paloyelis, Yannis; Simmons, Andy; Tchanturia, Kate; Treasure, Janet

2017-09-01

People with anorexia nervosa (AN) have difficulties in a wide range of social-emotional processes. Previous work suggests atypical involvement of the prefrontal cortex (PFC), amygdala, insula, and fusiform gyri during social-emotional processing in AN. Twenty women with AN and twenty healthy comparison (HC) women were presented with happy, fearful, and neutral faces during a functional magnetic resonance imaging study. Group differences were investigated in the following regions of interest: lateral PFC, amygdala, insula, and fusiform gyri. The HC participants showed significantly increased recruitment of the ventrolateral PFC and amygdala in the fearful > neutral contrast relative to the AN participants. The AN participants showed a significantly increased recruitment of a small cluster in the right posterior insula in the happy > neutral contrast. These findings are in line with the hypothesis that people with AN have a blunted response to negative and atypical exaggerated response to positive emotionally provoking stimuli. Copyright © 2017 The Author(s). Published by Elsevier B.V. All rights reserved.

Pneumonia Updates on Legionella, Chlamydophila, and Mycoplasma Pneumonia

PubMed Central

Sharma, Lokesh; Losier, Ashley; Tolbert, Thomas; Dela Cruz, Charles S.; Marion, Chad R.

2017-01-01

SUMMARY CAP due to Legionella, Chlamydophyla, or Mycoplasma continues to be a diagnostic challenge due to the nonspecific clinical and radiographic presentations. The vague clinical presentations of atypical CAP contribute to its underdiagnosis and under-reporting. Advancements in diagnostic techniques bring hope to rapid and accurate diagnosis of atypical CAP. Macrolides and respiratory fluoroquinolones are currently the antibiotics of choice, but this may change in the near future as more antibiotics resistance patterns emerge for atypical CAP. Several controversies still exist in atypical CAP, underscoring the need for continued investigation of preventing atypical CAP and determine its association with chronic lung diseases. PMID:28159161

Neuroinflammation is increased in the parietal cortex of atypical Alzheimer's disease.

PubMed

Boon, Baayla D C; Hoozemans, Jeroen J M; Lopuhaä, Boaz; Eigenhuis, Kristel N; Scheltens, Philip; Kamphorst, Wouter; Rozemuller, Annemieke J M; Bouwman, Femke H

2018-05-29

While most patients with Alzheimer's disease (AD) present with memory complaints, 30% of patients with early disease onset present with non-amnestic symptoms. This atypical presentation is thought to be caused by a different spreading of neurofibrillary tangles (NFT) than originally proposed by Braak and Braak. Recent studies suggest a prominent role for neuroinflammation in the spreading of tau pathology. We aimed to explore whether an atypical spreading of pathology in AD is associated with an atypical distribution of neuroinflammation. Typical and atypical AD cases were selected based on both NFT distribution and amnestic or non-amnestic clinical presentation. Immunohistochemistry was performed on the temporal pole and superior parietal lobe of 10 typical and 9 atypical AD cases. The presence of amyloid-beta (N-terminal; IC16), pTau (AT8), reactive astrocytes (GFAP), microglia (Iba1, CD68, and HLA-DP/DQ/DR), and complement factors (C1q, C3d, C4b, and C5b-9) was quantified by image analysis. Differences in lobar distribution patterns of immunoreactivity were statistically assessed using a linear mixed model. We found a temporal dominant distribution for amyloid-beta, GFAP, and Iba1 in both typical and atypical AD. Distribution of pTau, CD68, HLA-DP/DQ/DR, C3d, and C4b differed between AD variants. Typical AD cases showed a temporal dominant distribution of these markers, whereas atypical AD cases showed a parietal dominant distribution. Interestingly, when quantifying for the number of amyloid-beta plaques instead of stained surface area, atypical AD cases differed in distribution pattern from typical AD cases. Remarkably, plaque morphology and localization of neuroinflammation within the plaques was different between the two phenotypes. Our data show a different localization of neuroinflammatory markers and amyloid-beta plaques between AD phenotypes. In addition, these markers reflect the atypical distribution of tau pathology in atypical AD, suggesting that neuroinflammation might be a crucial link between amyloid-beta deposits, tau pathology, and clinical symptoms.

Assessment of serum trace elements and electrolytes in children with childhood and atypical autism.

PubMed

Skalny, Anatoly V; Simashkova, Natalia V; Klyushnik, Tatiana P; Grabeklis, Andrei R; Radysh, Ivan V; Skalnaya, Margarita G; Nikonorov, Alexandr A; Tinkov, Alexey A

2017-09-01

The existing data demonstrate a significant interrelation between ASD and essential and toxic trace elements status of the organism. However, data on trace element homeostasis in particular ASD forms are insufficient. Therefore, the objective of the present study was to assess the level of trace elements and electrolytes in serum of children with childhood and atypical autism. A total of 48 children with ASD (24 with childhood and 24 with atypical autism) and age- and sex-adjusted controls were examined. Serum trace elements and electrolytes were assessed using inductively-coupled plasma mass spectrometry. The obtained data demonstrate that children with ASD unspecified are characterized by significantly lower Ni, Cr, and Se levels as compared to the age- and sex-matched controls. At the same time, significantly decreased serum Ni and Se concentrations were detected in patients with childhood autism. In turn, children with atypical autism were characterized by more variable serum trace element spectrum. In particular, atypical autism is associated with lower serum Al, As, Ni, Cr, Mn, and Se levels in comparison to the control values. Moreover, Al and Mn concentration in this group was also lower than that in childhood autism patients. Generally, the obtained data demonstrate lower levels of both essential and toxic trace elements in atypical autism group, being indicative of profound alteration of trace elements metabolism. However, further detailed metabolic studies are required to reveal critical differences in metabolic pathways being responsible for difference in trace element status and clinical course of the disease. Copyright © 2016 Elsevier GmbH. All rights reserved.

Autism Tendencies and Psychosis Proneness Interactively Modulate Saliency Cost.

PubMed

Abu-Akel, Ahmad; Apperly, Ian A; Wood, Stephen J; Hansen, Peter C; Mevorach, Carmel

2017-01-01

Atypical responses to salient information are a candidate endophenotype for both autism and psychosis spectrum disorders. The present study investigated the costs and benefits of such atypicalities for saliency-based selection in a large cohort of neurotypical adults in whom both autism and psychosis expressions were assessed. Two experiments found that autism tendencies and psychosis proneness interactively modulated the cost incurred in the presence of a task-irrelevant salient distractor. Specifically, expressions of autism and psychosis had opposing effects on responses to salient information such that the benefits associated with high expressions for autism offset costs associated with high expressions for psychosis. The opposing influences observed on saliency cost may be driven by distinct attentional mechanisms that are differentially affected by expressions for autism and psychosis. © The Author 2016. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved. For permissions, please email: journals.permissions@oup.com.

Case Report: Bullous Scabies in Two Children below 10 Years.

PubMed

Luo, Ze-Yu; Zeng, Mei; Gao, Qian; Zhao, Yu-Kun; Sarkar, Rashmi; Liao, Shu-Ping; Luo, Di-Qing

2017-12-01

Bullous scabies is an infrequent and atypical presentation of scabies, with predilection for elderly and males. Its median age of presentation is 70 years. We report two male cases of bullous scabies who were 7 years and 6 months old. Both patients had excellent response to sulfur 10% ointment alone and have had no recurrence in more than 3 months of follow-up.

Defectors, not norm violators, are punished by third-parties.

PubMed

Bone, Jonathan; Silva, Antonio S; Raihani, Nichola J

2014-07-01

Punishment of defectors and cooperators is prevalent when their behaviour deviates from the social norm. Why atypical behaviour is more likely to be punished than typical behaviour remains unclear. One possible proximate explanation is that individuals simply dislike norm violators. However, an alternative possibility exists: individuals may be more likely to punish atypical behaviour, because the cost of punishment generally increases with the number of individuals that are punished. We used a public goods game with third-party punishment to test whether punishment of defectors was reduced when defecting was typical, as predicted if punishment is responsive to norm violation. The cost of punishment was fixed, regardless of the number of players punished, meaning that it was not more costly to punish typical, relative to atypical, behaviour. Under these conditions, atypical behaviour was not punished more often than typical behaviour. In fact, most punishment was targeted at defectors, irrespective of whether defecting was typical or atypical. We suggest that the reduced punishment of defectors when they are common might often be explained in terms of the costs to the punisher, rather than responses to norm violators.

Atypical antipsychotic clozapine reversed deficit on prepulse inhibition of the acoustic startle reflex produced by microinjection of DOI into the inferior colliculus in rats.

PubMed

de Oliveira, Rodolpho Pereira; Nagaishi, Karen Yuriko; Barbosa Silva, Regina Cláudia

2017-05-15

Dysfunctions of the serotonergic system have been suggested to be important in the neurobiology of schizophrenia. Patients with schizophrenia exhibit deficits in an operational measure of sensorimotor gating: prepulse inhibition (PPI) of startle. PPI is the normal reduction in the startle response caused by a low intensity non-startling stimulus (prepulse) which is presented shortly before the startle stimulus (pulse). The hallucinogen 2,5-dimethoxy-4-iodoamphetamine (DOI), a 5-hydroxytryptamine(HT) 2 receptor agonist disrupted PPI in rats. The inferior colliculus (IC) is a critical nucleus of the auditory pathway mediating acoustic PPI. The activation of the IC by the acoustic prepulse reduces startle magnitude. The present study investigated the role of serotonergic transmission in the IC on the expression of acoustic PPI. For that we investigated whether 5-HT2A receptor activation or blockade would affect this response. Unilateral microinjection of DOI (10μg/0.3μl) into the IC disrupted PPI, while microinjection of the 5-HT2A receptor antagonist ritanserin (4μg/0.3μl), into this structure did not alter PPI. We also examined the ability of the atypical antipsychotic clozapine (5.0mg/kg; I.P.) to reverse the disruption of PPI produced by unilateral microinjections of DOI into the IC of rats. Pretreatment with clozapine blocked DOI-induced disruption of PPI. Altogether, these results suggest that serotonin-mediated mechanisms of the IC are involved in the expression of PPI in rodents and that this response is sensitive to atypical antipsychotic clozapine. Copyright © 2017 Elsevier B.V. All rights reserved.

Atypical antipsychotic olanzapine reversed deficit on prepulse inhibition of the acoustic startle reflex produced by microinjection of dizocilpine (MK-801) into the inferior colliculus in rats.

PubMed

Zangrando, Julia; Carvalheira, Renata; Labbate, Giovanna; Medeiros, Priscila; Longo, Beatriz Monteiro; Melo-Thomas, Liana; Silva, Regina Claudia Barbosa

2013-11-15

Patients with schizophrenia exhibit deficits in an operational measure of sensorimotor gating: prepulse inhibition (PPI) of startle. PPI is the normal reduction in the startle response caused by a low intensity non-startling stimulus (prepulse) which is presented shortly before the startle stimulus (pulse). MK-801 is an NMDA receptor-antagonist known to produce hyperactivity, deficits in prepulse inhibition and social withdrawal, behaviors which correlate well with some of the positive, cognitive and negative symptoms of schizophrenia. The inferior colliculus (IC) is a critical part of the auditory pathway mediating acoustic PPI. The activation of the IC by the acoustic prepulse reduces startle magnitude. Thus, the purpose of the present study was to elucidate the role of glutamatergic transmission in the IC on the expression of acoustic PPI. For that we investigated whether NMDA receptor stimulation or blockade would affect this response. Unilateral microinjections of NMDA (30 nmol/0.5 μL) into the IC did not alter PPI while microinjections of MK-801 (30 nmol/0.5 μL) into this structure disrupted PPI. We also examined the ability of the atypical antipsychotic olanzapine (5.0mg/kg; i.p.) to reverse the disruption of pre-pulse inhibition produced by unilateral microinjections of MK-801 into the IC of rats. Pretreatment with olanzapine blocked MK-801-induced disruption of PPI. Altogether, these results suggest that glutamate-mediated mechanisms of the IC are involved in the expression of PPI in rodents and that this response is sensitive to atypical antipsychotic olanzapine. Copyright © 2013 Elsevier B.V. All rights reserved.

Redox modulation of A-type K+ currents in pain-sensing dorsal root ganglion neurons.

PubMed

Hsieh, Chi-Pan

2008-06-06

Redox modulation of fast inactivation has been described in certain cloned A-type voltage-gated K(+) (Kv) channels in expressing systems, but the effects remain to be demonstrated in native neurons. In this study, we examined the effects of cysteine-specific redox agents on the A-type K(+) currents in acutely dissociated small diameter dorsal root ganglion (DRG) neurons from rats. The fast inactivation of most A-type currents was markedly removed or slowed by the oxidizing agents 2,2'-dithio-bis(5-nitropyridine) (DTBNP) and chloramine-T. Dithiothreitol, a reducing agent for the disulfide bond, restored the inactivation. These results demonstrated that native A-type K(+) channels, probably Kv1.4, could switch the roles between inactivating and non-inactivating K(+) channels via redox regulation in pain-sensing DRG neurons. The A-type channels may play a role in adjusting pain sensitivity in response to peripheral redox conditions.

Atypical Cutaneous Manifestations in Syphilis.

PubMed

Ivars Lleó, M; Clavo Escribano, P; Menéndez Prieto, B

2016-05-01

Although the diversity of the clinical manifestations of syphilis is well-known, atypical presentations can also occur. Such atypical presentations are associated with a high risk of transmission as a result of diagnostic confusion and treatment delays owing to the disease's ability to mimic other common skin diseases, deviate from classic clinical presentations, and adopt unique forms. Cases of atypical syphilis have been described most frequently in patients with concomitant human immunodeficiency virus (HIV) infection. Because the incidence of syphilis has been growing over recent years -particularly in patients with HIV co-infection- dermatologists need to be familiar with the less well-known clinical presentations of this venereal disease. Copyright © 2015 AEDV. Published by Elsevier España, S.L.U. All rights reserved.

Comparison of Endoscopic and Histological Findings between Typical and Atypical Celiac Disease in Children.

PubMed

Semwal, Pooja; Gupta, Raj Kumar; Sharma, Rahul; Garg, Kapil

2018-04-01

Celiac disease is a common non-communicable disease with varied presentations. Purpose of this study was to find the duodeno-endoscopic features in celiac disease and to compare duodeno-endoscopic and histological findings between typical and atypical celiac disease in children. Hospital based observational study was conducted at Sir Padampat Mother and Child Health Institute, Jaipur from June 2015 to May 2016. Patients were selected and divided in two groups- typical and atypical celiac disease based upon the presenting symptoms. Upper gastrointestinal endoscopy and duodenal biopsy was performed for serology positive patients. Results were analysed using appropriate statistical test of significance. Out of 101 enrolled patients, 47.5% were male. Age ranged from 1 to 18 years. Study showed that 54.5% were typical and 45.5% were atypical. Patients presenting with atypical symptoms were predominantly of older age group. On endoscopy, scalloping, mosaic pattern, reduced fold height and absent fold height; and in histology, advanced Marsh stage were significantly higher in the typical group. Awareness of atypical presentations as well as duodeno-endoscopic features may have considerable practical importance for the diagnosis of celiac disease in children. Scalloping, mosaic pattern, reduced fold height and nodularity are main endoscopic markers of celiac disease in children. Endoscopic markers of duodenal mucosa may be important in early diagnosis of celiac disease, in children subjected to endoscopy for atypical presentations or indication other than suspected celiac disease.

Recognition of Atypical Symptoms of Acute Myocardial Infarction: Development and Validation of a Risk Scoring System.

PubMed

Li, Polly W C; Yu, Doris S F

Atypical symptom presentation in patients with acute myocardial infarction (AMI) is associated with longer delay in care seeking and poorer prognosis. Symptom recognition in these patients is a challenging task. Our purpose in this risk prediction model development study was to develop and validate a risk scoring system for estimating cumulative risk for atypical AMI presentation. A consecutive sample was recruited for the developmental (n = 300) and validation (n = 97) cohorts. Symptom experience was measured with the validated Chinese version of the Symptoms of Acute Coronary Syndromes Inventory. Potential predictors were identified from the literature. Multivariable logistic regression was performed to identify significant predictors. A risk scoring system was then constructed by assigning weights to each significant predictor according to their b coefficients. Five independent predictors for atypical symptom presentation were older age (≥75 years), female gender, diabetes mellitus, history of AMI, and absence of hyperlipidemia. The Hosmer and Lemeshow test (χ6 = 4.47, P = .62) indicated that this predictive model was adequate to predict the outcome. Acceptable discrimination was demonstrated, with area under the receiver operating characteristic curve as 0.74 (95% confidence interval, 0.67-0.82) (P < .001). The predictive power of this risk scoring system was confirmed in the validation cohort. Atypical AMI presentation is common. A simple risk scoring system developed on the basis of the 5 identified predictors can raise awareness of atypical AMI presentation and promote symptom recognition by estimating the cumulative risk for an individual to present with atypical AMI symptoms.

Phylogenetic and genetic linkage between novel atypical dual-specificity phosphatases from non-metazoan organisms.

PubMed

Romá-Mateo, Carlos; Sacristán-Reviriego, Almudena; Beresford, Nicola J; Caparrós-Martín, José Antonio; Culiáñez-Macià, Francisco A; Martín, Humberto; Molina, María; Tabernero, Lydia; Pulido, Rafael

2011-04-01

Dual-specificity phosphatases (DSPs) constitute a large protein tyrosine phosphatase (PTP) family, with examples in distant evolutive phyla. PFA-DSPs (Plant and Fungi Atypical DSPs) are a group of atypical DSPs present in plants, fungi, kinetoplastids, and slime molds, the members of which share structural similarity with atypical- and lipid phosphatase DSPs from mammals. The analysis of the PFA-DSPs from the plant Arabidopsis thaliana (AtPFA-DSPs) showed differential tissue mRNA expression, substrate specificity, and catalytic activity for these proteins, suggesting different functional roles among plant PFA-DSPs. Bioinformatic analysis revealed the existence of novel PFA-DSP-related proteins in fungi (Oca1, Oca2, Oca4 and Oca6 in Saccharomyces cerevisiae) and protozoa, which were segregated from plant PFA-DSPs. The closest yeast homolog for these proteins was the PFA-DSP from S. cerevisiae ScPFA-DSP1/Siw14/Oca3. Oca1, Oca2, Siw14/Oca3, Oca4, and Oca6 were involved in the yeast response to caffeine and rapamycin stresses. Siw14/Oca3 was an active phosphatase in vitro, whereas no phosphatase activity could be detected for Oca1. Remarkably, overexpression of Siw14/Oca3 suppressed the caffeine sensitivity of oca1, oca2, oca4, and oca6 deleted strains, indicating a genetic linkage and suggesting a functional relationship for these proteins. Functional studies on mutations targeting putative catalytic residues from the A. thaliana AtPFA-DSP1/At1g05000 protein indicated the absence of canonical amino acids acting as the general acid/base in the phosphor-ester hydrolysis, which suggests a specific mechanism of reaction for PFA-DSPs and related enzymes. Our studies demonstrate the existence of novel phosphatase protein families in fungi and protozoa, with active and inactive enzymes linked in common signaling pathways. This illustrates the catalytic and functional complexity of the expanding family of atypical dual-specificity phosphatases in non-metazoans, including parasite organisms responsible for infectious human diseases.

The Use of Electroconvulsive Therapy in Atypical Psychotic Presentations

PubMed Central

Vasu, Devi

2007-01-01

Convulsive therapy and its progeny, electroconvulsive therapy (ECT), were originally used for the treatment of catatonic schizophrenia, and there is little doubt that ECT remains an effective intervention for the treatment of schizophrenia. However, current practice tends to favor the use of ECT in severe or treatment refractory affective disorders, and its use in schizophrenia and other nonaffective (atypical) psychotic disorders has become controversial. Case reports have suggested a role for ECT in two specific atypical psychotic disorders: Cotard's syndrome and cycloid psychosis. In this article, we review the atypical psychotic disorders and report a series of five case examples that signify the role of ECT in atypical psychotic presentations, particularly when the symptoms resemble those found in Cotard's syndrome and cycloid psychosis. PMID:20428309

The use of electroconvulsive therapy in atypical psychotic presentations: a case review.

PubMed

Montgomery, John H; Vasu, Devi

2007-10-01

Convulsive therapy and its progeny, electroconvulsive therapy (ECT), were originally used for the treatment of catatonic schizophrenia, and there is little doubt that ECT remains an effective intervention for the treatment of schizophrenia. However, current practice tends to favor the use of ECT in severe or treatment refractory affective disorders, and its use in schizophrenia and other nonaffective (atypical) psychotic disorders has become controversial.CASE REPORTS HAVE SUGGESTED A ROLE FOR ECT IN TWO SPECIFIC ATYPICAL PSYCHOTIC DISORDERS: Cotard's syndrome and cycloid psychosis. In this article, we review the atypical psychotic disorders and report a series of five case examples that signify the role of ECT in atypical psychotic presentations, particularly when the symptoms resemble those found in Cotard's syndrome and cycloid psychosis.

Screening for atypical suicide risk with person fit statistics among people presenting to alcohol and other drug treatment.

PubMed

Conrad, Kendon J; Bezruczko, Nikolaus; Chan, Ya-Fen; Riley, Barth; Diamond, Guy; Dennis, Michael L

2010-01-15

Symptoms of internalizing disorders (depression, anxiety, somatic, trauma) are the major risk factors for suicide. Atypical suicide risk is characterized by people with few or no symptoms of internalizing disorders. In persons screened at intake to alcohol or other drug (AOD) treatment, this research examined whether person fit statistics would support an atypical subtype at high risk for suicide that did not present with typical depression and other internalizing disorders. Symptom profiles of the prototypical, typical, and atypical persons, as defined using fit statistics, were tested on 7408 persons entering AOD treatment using the Global Appraisal of Individual Needs (GAIN; Dennis et al., 2003a,b). Of those with suicide symptoms, the findings were as expected with the atypical group being higher on suicide and lower on symptoms of internalizing disorders. In addition, the atypical group was similar or lower on substance problems, symptoms of externalizing disorders, and crime and violence. Person fit statistics were useful in identifying persons with atypical suicide profiles and in enlightening aspects of existing theory concerning atypical suicidal ideation. Copyright (c) 2009 Elsevier Ireland Ltd. All rights reserved.

Multiple modes of a-type potassium current regulation.

PubMed

Cai, Shi-Qing; Li, Wenchao; Sesti, Federico

2007-01-01

Voltage-dependent potassium (K+) channels (Kv) regulate cell excitability by controlling the movement of K+ ions across the membrane in response to changes in the cell voltage. The Kv family, which includes A-type channels, constitute the largest group of K+ channel genes within the superfamily of Na+, Ca2+ and K+ voltage-gated channels. The name "A-type" stems from the typical profile of these currents that results form the opposing effects of fast activation and inactivation. In neuronal cells, A-type currents (I(A)), determine the interval between two consecutive action potentials during repetitive firing. In cardiac muscle, A-type currents (I(to)), control the initial repolarization of the myocardium. Structurally, A-type channels are tetramers of alpha-subunits each containing six putative transmembrane domains including a voltage-sensor. A-type channels can be modulated by means of protein-protein interactions with so-called beta-subunits that control inactivation voltage sensitivity and other properties, and by post-transcriptional modifications such as phosphorylation or oxidation. Recently a new mode of A-type regulation has been discovered in the form of a class of hybrid beta-subunits that posses their own enzymatic activity. Here, we review the biophysical and physiological properties of these multiple modes of A-type channel regulation.

Brief Report: Early VEPs to Pattern-Reversal in Adolescents and Adults with Autism

ERIC Educational Resources Information Center

Kovarski, K.; Thillay, A.; Houy-Durand, E.; Roux, S.; Bidet-Caulet, A.; Bonnet-Brilhault, F.; Batty, M.

2016-01-01

Autism spectrum disorder (ASD) is characterized by atypical visual perception both in the social and nonsocial domain. In order to measure a reliable visual response, visual evoked potentials were recorded during a passive pattern-reversal stimulation in adolescents and adults with and without ASD. While the present results show the same…

Resolution of Tachyarrhythmia Following Posterior Fossa Decompression Surgery for Chiari Malformation Type I.

PubMed

Elia, Christopher; Brazdzionis, James; Tashjian, Vartan

2018-03-01

Chiari malformation (CM) type I commonly presents with symptoms such as tussive headaches, paresthesias, and, in severe cases, corticobulbar dysfunction. However, patients may present with atypical symptoms lending to the complexity in this patient population. We present a case of a CM patient presenting with atypical cardiac symptoms and arrhythmias, all of which resolved after surgical decompression. A 31-year-old female presented with atypical chest pain, palpitations, tachycardia, headaches, and dizziness for 2 years. Multiple antiarrhythmics and ultimately cardiac ablation procedure proved to be ineffective. Magnetic resonance imaging revealed CM, and the patient ultimately underwent surgical decompression with subsequent resolution of her symptoms. The surgical management of CM patients presenting with atypical symptoms can be challenging and often lead to delays in intervention. To our knowledge this is the only reported case of a patient presenting with tachyarrhythmia and atypical chest pain with resolution after Chiari decompression. We believe the dramatic improvement documented in the present case should serve to advance Chiari decompression in CM patients presenting with refractory tachyarrhythmia in whom no other discernable cause has been elucidated. Further studies are needed to better correlate the findings and to hopefully establish a criteria for patients that will likely benefit from surgical decompression. Copyright © 2017 Elsevier Inc. All rights reserved.

Unusual antigen presentation offers new insight into HIV vaccine design.

PubMed

McMichael, Andrew J; Picker, Louis J

2017-06-01

Recent findings with a rhesus monkey cytomegalovirus based simian immunodeficiency virus vaccine have identified strong CD8+ T cell responses that are restricted by MHC-E. Also mycobacteria specific CD8+ T cells, that are MHC-E restricted, have been identified. MHC-E therefore can present a wide range of epitope peptides to CD8+ T cells, alongside its well defined role in presenting a conserved MHC-class I signal peptide to the NKG2A/C-CD94 receptor on natural killer cells. Here we explore the antigen processing pathways involved in these atypical T cell responses. Copyright © 2017 Elsevier Ltd. All rights reserved.

Atypical Headbanging Presentation of Idiopathic Sleep Related Rhythmic Movement Disorder: Three Cases with Video-Polysomnographic Documentation

PubMed Central

Yeh, Shih-Bin; Schenck, Carlos H.

2012-01-01

Study Objectives: To describe three cases of sleep related, idiopathic rhythmic movement disorder (RMD) with atypical headbanging, consisting of head punching and head slapping. Methods: Three consecutive patients (2 males [11 and 13 years old) and one female [22 years old]) presented with atypical headbanging of 6 years, 7 years, and 17 years duration. In 2 cases, typical rhythmic headbanging (with use of the head) shifted after 3-4 years to atypical headbanging, with frontal head punching that was quasi-rhythmic. In one case, atypical headbanging (head-slapping) was the initial and only RMD. There was no injury from the headbanging. Prenatal, perinatal, developmental, behavioral-psychological, medical-neurological, and family histories were negative. Clinical evaluations and nocturnal video-polysomnography with seizure montage were performed on all patients. Results: Atypical headbanging was documented in all 3 cases; episodes always emerged late in the sleep cycle: from N2 sleep in 11 episodes, from REM sleep in 4 episodes, and from N1 sleep in 1 episode. Epileptiform activity was not detected. Clonazepam therapy was substantially effective in 1 case but not effective in 2 cases. Conclusions: These 3 cases of idiopathic atypical headbanging expand the literature on this RMD variant, as to our knowledge only one previously documented case has been reported. Citation: Yeh SB; Schenck CH. Atypical headbanging presentation of idiopathic sleep related rhythmic movement disorder: three cases with video-polysomnographic documentation. J Clin Sleep Med 2012;8(4):403-411. PMID:22893771

Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls.

PubMed

Rodolico, Carmelo; Parisi, Daniela; Portaro, Simona; Biasini, Fiammetta; Sinicropi, Stefano; Ciranni, Annamaria; Toscano, Antonio; Messina, Sonia; Musumeci, Olimpia; Vita, Giuseppe; Girlanda, Paolo

2016-08-30

Myasthenia gravis (MG) is an autoimmune disorder presenting with fluctuating, fatigable muscle weakness. Initial symptoms classically involve ocular and proximal limb muscles. Rarely, MG may onset with unusual features, so it can be misdiagnosed with other neuromuscular diseases. To describe unusual and atypical presentations of MG in a large cohort of patients, considering and discussing diagnostic difficulties and pitfalls. We report on 21 out of 508 MG patients, coming to our department in the last 27 years and presenting with atypical or unusual features. The diagnosis was achieved performing a careful clinical examination, a proper neurophysiological assessment, the neostigmine test, the AChR and MuSK antibodies assay and chest CT-scan. Patients with atypical/unusual MG onset were the 4.4% of all MG patients population. We describe seven different clinical categories: asymmetric distal upper limbs weakness, foot drop, isolated triceps brachii weakness and foot drop, post exertional axial weakness with dropped head, acute facial dyplegia, limb-girdle MG and MG with sudden lower limbs weakness and recurrent falls. Atypical and unusual presentations may increase the risk to misdiagnose or delay MG diagnosis. Isolated limb-girdle presentation is the most frequent atypical form in our series.

Traditional and Atypical Presentations of Anxiety in Youth with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Kerns, Connor Morrow; Kendall, Philip C.; Berry, Leandra; Souders, Margaret C.; Franklin, Martin E.; Schultz, Robert T.; Miller, Judith; Herrington, John

2014-01-01

We assessed anxiety consistent (i.e., "traditional") and inconsistent (i.e., "atypical") with diagnostic and statistical manual (DSM) definitions in autism spectrum disorder (ASD). Differential relationships between traditional anxiety, atypical anxiety, child characteristics, anxiety predictors and ASD-symptomology were…

Elevated thyroid peroxidase antibodies with encephalopathy in MELAS syndrome.

PubMed

Chan, Derrick W S; Lim, C C Tchoyoson; Tay, Stacey K H; Choong, Chew-Thye; Phuah, Huan Kee

2007-06-01

Both the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) and Hashimoto's encephalopathy can present with nonspecific encephalopathy. Hashimoto's encephalopathy is an association of steroid-responsive encephalopathy with elevated thyroid peroxidase antibodies. Steroid-responsive encephalopathy, however, is not characteristic of the MELAS syndrome, which typically presents with stroke-like episodes and lactic acidosis in cerebrospinal fluid and blood. Here, a patient is described with goiter, recurrent encephalopathy and elevated thyroid peroxidase antibodies who apparently responded to steroid therapy; however, magnetic resonance imaging was atypical for Hashimoto's encephalopathy, and she was diagnosed with MELAS syndrome. This syndrome can present with apparent steroid-responsive encephalopathy and elevated thyroid peroxidase antibodies, mimicking Hashimoto's encephalopathy, and should be suspected if lactic acidosis is present and typical features are detected on magnetic resonance imaging.

Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase.

PubMed Central

McGuire, M C; Nogueira, C P; Bartels, C F; Lightstone, H; Hajra, A; Van der Spek, A F; Lockridge, O; La Du, B N

1989-01-01

A point mutation in the gene for human serum cholinesterase was identified that changes Asp-70 to Gly in the atypical form of serum cholinesterase. The mutation in nucleotide 209, which changes codon 70 from GAT to GGT, was found by sequencing a genomic clone and sequencing selected regions of DNA amplified by the polymerase chain reaction. The entire coding sequences for usual and atypical cholinesterases were compared, and no other consistent base differences were found. A polymorphic site near the C terminus of the coded region was detected, but neither allele at this locus segregated consistently with the atypical trait. The nucleotide-209 mutation was detected in all five atypical cholinesterase families examined. There was complete concordance between this mutation and serum cholinesterase phenotypes for all 14 heterozygous and 6 homozygous atypical subjects tested. The mutation causes the loss of a Sau3A1 restriction site; the resulting DNA fragment length polymorphism was verified by electrophoresis of 32P-labeled DNA restriction fragments from usual and atypical subjects. Dot-blot hybridization analysis with a 19-mer allele-specific probe to the DNA amplified by the polymerase chain reaction distinguished between the usual and atypical genotypes. We conclude that the Asp-70----Gly mutation (acidic to neutral amino acid substitution) accounts for reduced affinity of atypical cholinesterase for choline esters and that Asp-70 must be an important component of the anionic site. Heterogeneity in atypical alleles may exist, but the Asp-70 point mutation may represent an appreciable portion of the atypical gene pool. Images PMID:2915989

Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase

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

McGuire, M.C.; Nogueira, C.P.; Bartels, C.F.

1989-02-01

A point mutation in the gene for human serum cholinesterase was identified that changes Asp-70 to Gly in the atypical form of serum cholinesterase. The mutation in nucleotide 209, which changes codon 70 from GAT to GGT, was found by sequencing a genomic clone and sequencing selected regions of DNA amplified by the polymerase chain reaction. The entire coding sequences for usual and atypical cholinesterases were compared, and no other consistent base differences were found. The nucleotide-209 mutation was detected in all five atypical cholinesterase families examined. There was complete concordance between this mutation and serum cholinesterase phenotypes for allmore » 14 heterozygous and 6 homozygous atypical subjects tested. The mutation causes the loss of a Sau3A1 restriction site; the resulting DNA fragment length polymorphism was verified by electrophoresis of {sup 32}P-labeled DNA restriction fragments from usual and atypical subjects. Dot-blot hybridization analysis with a 19-mer allele-specific probe to the DNA amplified by the polymerase chain reaction distinguished between the usual and atypical genotypes. The authors conclude that the Asp-70 {yields} Gly mutation accounts for reduced affinity of atypical cholinesterase for choline esters and that Asp-70 must be an important component of the anionic site. Heterogeneity in atypical alleles may exist, but the Asp-70 point mutation may represent an appreciable portion of the atypical gene pool.« less

Synchronous Pulmonary Malignancies: Atypical Presentation of Mantle Cell Lymphoma Masking a Lung Malignancy

PubMed Central

Masha, Luke; Zinchuk, Andrey; Boosalis, Valia

2015-01-01

We present a case of a pleural space malignancy masked by an atypical presentation of mantle cell lymphoma. Our patient presented with a large pleural effusion and right sided pleural studding, initially attributed to a new diagnosis of mantle cell lymphoma. Rare atypical epithelial cells were also seen amongst the clonal population of lymphocytes. The patient lacked systemic manifestations of mantle cell lymphoma and did not improve with chemotherapy. A pleural biopsy ultimately revealed the presence of an undifferentiated carcinoma, favoring a lung primary. A discussion of synchronous pleural space malignancies involving lymphomas is given. PMID:26500732

Synchronous Pulmonary Malignancies: Atypical Presentation of Mantle Cell Lymphoma Masking a Lung Malignancy.

PubMed

Masha, Luke; Zinchuk, Andrey; Boosalis, Valia

2015-09-07

We present a case of a pleural space malignancy masked by an atypical presentation of mantle cell lymphoma. Our patient presented with a large pleural effusion and right sided pleural studding, initially attributed to a new diagnosis of mantle cell lymphoma. Rare atypical epithelial cells were also seen amongst the clonal population of lymphocytes. The patient lacked systemic manifestations of mantle cell lymphoma and did not improve with chemotherapy. A pleural biopsy ultimately revealed the presence of an undifferentiated carcinoma, favoring a lung primary. A discussion of synchronous pleural space malignancies involving lymphomas is given.

Can transcranial electrical stimulation improve learning difficulties in atypical brain development? A future possibility for cognitive training☆

PubMed Central

Krause, Beatrix; Cohen Kadosh, Roi

2013-01-01

Learning difficulties in atypical brain development represent serious obstacles to an individual's future achievements and can have broad societal consequences. Cognitive training can improve learning impairments only to a certain degree. Recent evidence from normal and clinical adult populations suggests that transcranial electrical stimulation (TES), a portable, painless, inexpensive, and relatively safe neuroenhancement tool, applied in conjunction with cognitive training can enhance cognitive intervention outcomes. This includes, for instance, numerical processing, language skills and response inhibition deficits commonly associated with profound learning difficulties and attention-deficit hyperactivity disorder (ADHD). The current review introduces the functional principles, current applications and promising results, and potential pitfalls of TES. Unfortunately, research in child populations is limited at present. We suggest that TES has considerable promise as a tool for increasing neuroplasticity in atypically developing children and may be an effective adjunct to cognitive training in clinical settings if it proves safe. The efficacy and both short- and long-term effects of TES on the developing brain need to be critically assessed before it can be recommended for clinical settings. PMID:23770059

Brief Report: Arrested Development of Audiovisual Speech Perception in Autism Spectrum Disorders

ERIC Educational Resources Information Center

Stevenson, Ryan A.; Siemann, Justin K.; Woynaroski, Tiffany G.; Schneider, Brittany C.; Eberly, Haley E.; Camarata, Stephen M.; Wallace, Mark T.

2014-01-01

Atypical communicative abilities are a core marker of Autism Spectrum Disorders (ASD). A number of studies have shown that, in addition to auditory comprehension differences, individuals with autism frequently show atypical responses to audiovisual speech, suggesting a multisensory contribution to these communicative differences from their…

Subitizing and Counting in Typical and Atypical Development

ERIC Educational Resources Information Center

Schleifer, Patrick; Landerl, Karin

2011-01-01

Enumeration performance in standard dot counting paradigms was investigated for different age groups with typical and atypically poor development of arithmetic skills. Experiment 1 showed a high correspondence between response times and saccadic frequencies for four age groups with typical development. Age differences were more marked for the…

Gaze Behavior of Children with ASD toward Pictures of Facial Expressions.

PubMed

Matsuda, Soichiro; Minagawa, Yasuyo; Yamamoto, Junichi

2015-01-01

Atypical gaze behavior in response to a face has been well documented in individuals with autism spectrum disorders (ASDs). Children with ASD appear to differ from typically developing (TD) children in gaze behavior for spoken and dynamic face stimuli but not for nonspeaking, static face stimuli. Furthermore, children with ASD and TD children show a difference in their gaze behavior for certain expressions. However, few studies have examined the relationship between autism severity and gaze behavior toward certain facial expressions. The present study replicated and extended previous studies by examining gaze behavior towards pictures of facial expressions. We presented ASD and TD children with pictures of surprised, happy, neutral, angry, and sad facial expressions. Autism severity was assessed using the Childhood Autism Rating Scale (CARS). The results showed that there was no group difference in gaze behavior when looking at pictures of facial expressions. Conversely, the children with ASD who had more severe autistic symptomatology had a tendency to gaze at angry facial expressions for a shorter duration in comparison to other facial expressions. These findings suggest that autism severity should be considered when examining atypical responses to certain facial expressions.

Gaze Behavior of Children with ASD toward Pictures of Facial Expressions

PubMed Central

Matsuda, Soichiro; Minagawa, Yasuyo; Yamamoto, Junichi

2015-01-01

Atypical gaze behavior in response to a face has been well documented in individuals with autism spectrum disorders (ASDs). Children with ASD appear to differ from typically developing (TD) children in gaze behavior for spoken and dynamic face stimuli but not for nonspeaking, static face stimuli. Furthermore, children with ASD and TD children show a difference in their gaze behavior for certain expressions. However, few studies have examined the relationship between autism severity and gaze behavior toward certain facial expressions. The present study replicated and extended previous studies by examining gaze behavior towards pictures of facial expressions. We presented ASD and TD children with pictures of surprised, happy, neutral, angry, and sad facial expressions. Autism severity was assessed using the Childhood Autism Rating Scale (CARS). The results showed that there was no group difference in gaze behavior when looking at pictures of facial expressions. Conversely, the children with ASD who had more severe autistic symptomatology had a tendency to gaze at angry facial expressions for a shorter duration in comparison to other facial expressions. These findings suggest that autism severity should be considered when examining atypical responses to certain facial expressions. PMID:26090223

Post-cardiac injury syndrome: an atypical case following percutaneous coronary intervention.

PubMed

Paiardi, Silvia; Cannata, Francesco; Ciccarelli, Michele; Voza, Antonio

2017-12-01

Post-cardiac injury syndrome (PCIS) is a syndrome characterized by pericardial and/or pleural effusion, triggered by a cardiac injury, usually a myocardial infarction or cardiac surgery, rarely a minor cardiovascular percutaneous procedure. Nowadays, the post-cardiac injury syndrome, is regaining importance and interest as an emerging cause of pericarditis, especially in developed countries, due to a great and continuous increase in the number and complexity of percutaneous cardiologic procedures. The etiopathogenesis seems mediated by the immunitary system producing immune complexes, which deposit in the pericardium and pleura and trigger an inflammatory response. We present the atypical case of a 76-year-old man presenting with a hydro-pneumothorax, low-grade fever and elevated inflammation markers, after two complex percutaneous coronary interventions, executed 30 and 75 days prior. The clinical features of our case are consistent with the diagnostic criteria of PCIS: prior injury of the pericardium and/or myocardium, fever, leucocytosis, elevated inflammatory markers, remarkable steroid responsiveness and latency period. Only one element does not fit with this diagnosis and does not find any further explanation: the air accompanying the pleural effusion, determining a hydro-pneumothorax and requiring a pleural drainage catheter positioning. Copyright © 2017 Elsevier Inc. All rights reserved.

[Facial diplegia with atypical paresthesia. A variant of Guillain-Barré syndrome].

PubMed

Dal Verme, Agustín; Acosta, Paula; Margan, Mercedes; Pagnini, Cecilia; Dellepiane, Eugenia; Peralta, Christian

2015-01-01

Guillain-Barré syndrome is an acute demyelinating disease which presents in a classic form with muscular weakness and the lack of reflexes. There are multiple variations and atypical forms of the disease, being facial diplegia with paresthesia one of them. Also, the absence of reflexes in this syndrome is typical but not constant, since 10% of patients present reflexes. We describe a case of atypical presentation with bilateral facial palsy, paresthesia, brisk reflexes and weakness in the lower limbs in a 33 year old woman.

Atypicalities in cortical structure, handedness, and functional lateralization for language in autism spectrum disorders.

PubMed

Lindell, Annukka K; Hudry, Kristelle

2013-09-01

Language is typically a highly lateralized function, with atypically reduced or reversed lateralization linked to language impairments. Given the diagnostic and prognostic role of impaired language for autism spectrum disorders (ASDs), this paper reviews the growing body of literature that examines patterns of lateralization in individuals with ASDs. Including research from structural and functional imaging paradigms, and behavioral evidence from investigations of handedness, the review confirms that atypical lateralization is common in people with ASDs. The evidence indicates reduced structural asymmetry in fronto-temporal language regions, attenuated functional activation in response to language and pre-linguistic stimuli, and more ambiguous (mixed) hand preferences, in individuals with ASDs. Critically, the evidence emphasizes an intimate relationship between atypical lateralization and language impairment, with more atypical asymmetries linked to more substantive language impairment. Such evidence highlights opportunities for the identification of structural and functional biomarkers of ASDs, affording the potential for earlier diagnosis and intervention implementation.

Extracutaneous atypical syphilis in HIV-infected patients.

PubMed

Prieto, Paula; Imaz, Arkaitz; Calatayud, Laura; García, Olga; Saumoy, María; Podzamczer, Daniel

2017-12-07

We describe a series of cases of syphilis with atypical extracutaneous clinical presentation diagnosed in HIV-infected patients. Retrospective observational study. All cases of syphilis diagnosed in HIV-infected patients during the period between June 2013 and June 2016 in a tertiary hospital of the Barcelona metropolitan area were analysed. A total of 71 cases of syphilis were diagnosed, 32 of them presenting with clinical signs or symptoms. Seven of these cases (9.8% of the total and 21.8% of the symptomatic cases) had atypical presentations with extracutaneous involvement: ocular (4), gastric (1), multiple hepatic abscesses (1) and generalised adenopathies (1). Patients were treated with intramuscular or intravenous penicillin and the clinical and serological evolution was good in all of them. Extracutaneous atypical clinical presentations were observed in 21.8% of symptomatic cases of syphilis in HIV+ patients with ocular involvement being the most freqent. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

Atypical antipsychotics for psychosis in adolescents.

PubMed

Kumar, Ajit; Datta, Soumitra S; Wright, Stephen D; Furtado, Vivek A; Russell, Paul S

2013-10-15

Schizophrenia often presents in adolescence, but current treatment guidelines are based largely on studies of adults with psychosis. Over the past decade, the number of studies on treatment of adolescent-onset psychosis has increased. The current systematic review collates and critiques evidence obtained on the use of various atypical antipsychotic medications for adolescents with psychosis. To investigate the effects of atypical antipsychotic medications in adolescents with psychosis. We reviewed in separate analyses various comparisons of atypical antipsychotic medications with placebo or a typical antipsychotic medication or another atypical antipsychotic medication or the same atypical antipsychotic medication but at a lower dose. We searched the Cochrane Schizophrenia Group Register (October 2011), which is based on regular searches of BIOSIS, CENTRAL, CINAHL, EMBASE, MEDLINE and PsycINFO. We inspected references of all identified studies and contacted study authors and relevant pharmaceutical companies to ask for more information. We included all relevant randomised controlled trials (RCTs) that compared atypical antipsychotic medication with placebo or another pharmacological intervention or with psychosocial interventions, standard psychiatric treatment or no intervention in children and young people aged 13 to 18 years with a diagnosis of schizophrenia, schizoaffective disorder, acute and transient psychoses or unspecified psychosis. We included studies published in English and in other languages that were available in standardised databases. Review authors AK and SSD selected the studies, rated the quality of the studies and performed data extraction. For dichotomous data, we estimated risk ratios (RRs) with 95% confidence intervals (CIs) using a fixed-effect model. When possible, for binary data presented in the 'Summary of findings' table, we calculated illustrative comparative risks. We summated continuous data using the mean difference (MD). Risk of bias was assessed for included studies. We included 13 RCTs, with a total of 1112 participants. We found no data on service utilisation, economic outcomes, behaviour or cognitive response. Trials were classified into the following groups. 1. Atypical antipsychotics versus placebo: Only two studies compared one atypical antipsychotic medication with placebo. In one study, the number of non-responders treated with olanzapine was not different from the number treated with placebo (1 RCT, n = 107, RR 0.84, 95% CI 0.65 to 1.10); however, significantly more (57% vs 32%) people left the study early (1 RCT, n = 107, RR 0.56, 95% CI 0.36 to 0.87) from the placebo group compared with the olanzapine group. With regard to adverse effects, young people treated with aripiprazole had significantly lower serum cholesterol compared with those given placebo (1 RCT, n = 302, RR 3.77, 95% CI 1.88 to 7.58). 2. Atypical antipsychotics versus typical antipsychotics: When the findings of all five trials comparing atypical antipsychotic medications with a typical antipsychotic medication were collated, no difference in the mean end point Brief Psychiatric Rating Scale (BPRS) score was noted between the two arms (5 RCTs, n = 236, MD -1.08, 95% CI -3.08 to 0.93). With regard to adverse effects, the mean end point serum prolactin concentration was much higher than the reference range for treatment with risperidone, olanzapine and molindone in one of the studies. However, fewer adolescents who were receiving atypical antipsychotic medications left the study because of adverse effects (3 RCTs, n = 187, RR 0.65, 95% CI 0.36 to 1.15) or for any reason (3 RCTs, n = 187, RR 0.62, 95% CI 0.39 to 0.97).3. One atypical antipsychotic versus another atypical antipsychotic: The mean end point BPRS score was not significantly different for people who received risperidone compared with those who received olanzapine; however, the above data were highly skewed. Overall no difference was noted in the number of people leaving the studies early because of any adverse effects between each study arm in the three studies comparing olanzapine and risperidone (3 RCTs, n = 130, RR 1.15, 95% CI 0.44 to 3.04). Specific adverse events were not reported uniformly across the six different studies included in this section of the review; therefore it was difficult to do a head-to-head comparison of adverse events for different atypical antipsychotic medications.4. Lower-dose atypical antipsychotic versus standard/higher-dose atypical antipsychotic: Three studies reported comparisons of lower doses of the atypical antipsychotic medication with standard/higher doses of the same medication. One study reported better symptom reduction with a standard dose of risperidone as compared with a low dose (1 RCT, n = 257, RR -8.00, 95% CI -13.75 to -2.25). In another study, no difference was reported in the number of participants not achieving remission between the group receiving 10 mg/d and those who received 30 mg/d of aripiprazole (1 RCT, n = 196, RR 0.84, 95% CI 0.48 to 1.48). Similarly in the other study, authors reported no statistically significant difference in clinical response between the two groups receiving lower-dose (80 mg/d) and higher-dose (160 mg/d) ziprasidone, as reflected by the mean end point BPRS score (1 RCT, n = 17, MD -4.40, 95% CI -19.20 to 10.40). No convincing evidence suggests that atypical antipsychotic medications are superior to typical medications for the treatment of adolescents with psychosis. However, atypical antipsychotic medications may be more acceptable to young people because fewer symptomatic adverse effects are seen in the short term. Little evidence is available to support the superiority of one atypical antipsychotic medication over another, but side effect profiles are different for different medications. Treatment with olanzapine, risperidone and clozapine is often associated with weight gain. Aripiprazole is not associated with increased prolactin or with dyslipidaemia. Adolescents may respond better to standard-dose as opposed to lower-dose risperidone, but for aripiprazole and ziprasidone, lower doses may be equally effective. Future trials should ensure uniform ways of reporting.

BILATERAL RETINOCHOROIDITIS CAUSED BY AN ATYPICAL STRAIN OF TOXOPLASMA GONDII

PubMed Central

Bottós, Juliana; Miller, Robin H.; Belfort, Rubens N.; Macedo, Ana Carolina; Belfort, Rubens; Grigg, Michael E.

2012-01-01

Background A 53-year-old man presented with an acute bilateral posterior uveitis with extensive necrotizing retinochoroiditis but without chorioretinal scarring. A thorough workup did not reveal any underlying disease. The possibilities of atypical ocular toxoplasmosis as well as herpetic retinal necrosis were considered and specific therapy instituted, with little improvement. The patient died within two months as result of an undifferentiated squamous cell carcinoma. Methods Histopathological examination, immunohistochemistry and multi-locus polymerase chain reaction confirmed T. gondii infection of the retina Results Macroscopic examination of enucleated globe showed extensive retinal necrosis and vitreous detachment. Histological examination of retinal tissue identified numerous round–to-elliptical toxoplasmic cysts within the retina, with retinal necrosis and minimal choroidal inflammation. Immunohistochemical analyses confirmed the cysts were due to Toxoplasma gondii. DNA extracted from formalin-fixed, paraffin-embedded tissue sections was subjected to multi-locus PCR analysis at the following typing loci: SAG1, SAG2, SAG3, SAG4, B1, NTS2, GRA6, and GRA7. DNA sequencing of positive PCR products at the NTS2, SAG1, and GRA7 loci confirmed the presence of a non-archetypal strain of T. gondii infecting the eye of the patient experiencing a severe, atypical ocular toxoplasmosis Conclusion A highly divergent, non-archetypal strain of Toxoplasma gondii was responsible for causing a severe, atypical bilateral retinochoroiditis in a patient from Brazil. PMID:19666926

Acute Motor Axonal Neuropathy in a Child With Atypical Presentation

PubMed Central

Lee, Kyung Soo; Han, Seung Hoon

2015-01-01

Abstract Acute motor axonal neuropathy (AMAN) is a variant of Guillain–Barre syndrome. It has been reported to have no sensory symptoms and is diagnosed by typical electrophysiological findings of low-amplitude or unobtainable compound muscle action potentials with normal sensory nerve action potentials. However, the authors experienced atypical case of general electrophysiological findings of AMAN with pain and paresthesia and presented it. This case implies that clinician should be on the alert to atypical sensory symptoms from the classical presentation of AMAN even if the patient is diagnosed with AMAN electrophysiologically and should consider proper treatment options based on clinical presentations. PMID:25621680

Atypical presentation of macrophagic myofasciitis 10 years post vaccination.

PubMed

Ryan, Aisling M; Bermingham, Niamh; Harrington, Hugh J; Keohane, Catherine

2006-12-01

Macrophagic myofasciitis (MMF) is an uncommon inflammatory disorder of muscle believed to be due to persistence of vaccine-derived aluminium hydroxide at the site of injection. The condition is characterised by diffuse myalgias, arthralgia and fatigue. We describe a patient with histologically confirmed MMF whose presentation was atypical with left chest and upper limb pain beginning more than 10 years post vaccination. Treatment with steroids led to symptomatic improvement. Although rare, clinicians should consider MMF in cases of atypical myalgia.

[Auricular sporotrichosis. Atypical case report simulating bacterial cellulitis].

PubMed

Ochoa-Reyes, Juan; Ramos-Martínez, Ernesto; Treviño-Rangel, Rogelio; González, Gloria M; Bonifaz, Alexandro

Sporotrichosis is the most common subcutaneous or implantation mycosis in Mexico. The case of a preauricular cutaneous-fixed sporotrichosis simulating atypical bacterial cellulitis is reported in an elderly patient with no history of trauma. The biopsy showed a suppurative granuloma with scarce yeast. Sporothrix schenckii was identified in the culture and confirmed by molecular biology. She was treated with itraconazole and a clinical and mycological cure was obtained. The case of atypical presentation is presented, coming from a semi-arid zone with extreme weather.

Side effects induced by the acute levodopa challenge in Parkinson's Disease and atypical parkinsonisms.

PubMed

Vasta, Rosario; Nicoletti, Alessandra; Mostile, Giovanni; Dibilio, Valeria; Sciacca, Giorgia; Contrafatto, Donatella; Cicero, Calogero Edoardo; Raciti, Loredana; Luca, Antonina; Zappia, Mario

2017-01-01

Acute levodopa challenge may be performed to predict levodopa chronic responsiveness. The aim of the study was to investigate frequency of side effects during the acute levodopa challenge in PD and atypical parkinsonisms. We enrolled 34 de novo PD patients and 29 patients affected by atypical parkinsonisms (Multiple System Atrophy, MSA, n = 10; Progressive Supranuclear Palsy, PSP, n = 12 and Corticobasal Degeneration, CBD, n = 7) who underwent an acute levodopa challenge. Side effects occurring during test were recorded. Side effects were more frequent among atypical parkinsonisms as unique group when compared to PD patients (64.3% versus 23.5%; p-value 0.002) with an adjusted OR of 4.36 (95%CI 1.40-13.5). Each atypical parkinsonisms showed almost double occurrence of side effects (MSA 90%, PSP 41.7% and CBD 57%). Side effects during acute levodopa challenge may be frequent in atypical parkinsonisms. This information could be useful in order to better prepare the patient for the test. Furthermore, it could represent a useful cue in differential diagnosis with PD.

Stability of the Cortical Sensory Waveforms, the P1-N1-P2 Complex and T-Complex, of Auditory Evoked Potentials

ERIC Educational Resources Information Center

Wagner, Monica; Shafer, Valerie L.; Haxhari, Evis; Kiprovski, Kevin; Behrmann, Katherine; Griffiths, Tara

2017-01-01

Purpose: Atypical cortical sensory waveforms reflecting impaired encoding of auditory stimuli may result from inconsistency in cortical response to the acoustic feature changes within spoken words. Thus, the present study assessed intrasubject stability of the P1-N1-P2 complex and T-complex to multiple productions of spoken nonwords in 48 adults…

Processable high temperature resistant addition type polyimide laminating resins

NASA Technical Reports Server (NTRS)

Serafini, T. T.; Delvigs, P.

1973-01-01

Basic studies that were performed using model compounds to elucidate the polymerization mechanism of the so-called addition-type (A-type) polyimides are reviewed. The fabrication and properties of polyimide/graphite fiber composites using A-type polyimide prepolymers as the matrix are also reviewed. An alternate method for preparing processable A-type polyimides by means of in situ polymerization of monomer reactants (PMR) on the fiber reinforcement is described. The elevated temperature properties of A-type PMR/graphite fiber composites are also presented.

A-type potassium currents in smooth muscle.

PubMed

Amberg, Gregory C; Koh, Sang Don; Imaizumi, Yuji; Ohya, Susumu; Sanders, Kenton M

2003-03-01

A-type currents are voltage-gated, calcium-independent potassium (Kv) currents that undergo rapid activation and inactivation. Commonly associated with neuronal and cardiac cell-types, A-type currents have also been identified and characterized in vascular, genitourinary, and gastrointestinal smooth muscle cells. This review examines the molecular identity, biophysical properties, pharmacology, regulation, and physiological function of smooth muscle A-type currents. In general, this review is intended to facilitate the comparison of A-type currents present in different smooth muscles by providing a comprehensive report of the literature to date. This approach should also aid in the identification of areas of research requiring further attention.

HCN channels segregate stimulation‐evoked movement responses in neocortex and allow for coordinated forelimb movements in rodents

PubMed Central

Farrell, Jordan S.; Palmer, Laura A.; Singleton, Anna C.; Pittman, Quentin J.; Teskey, G. Campbell

2016-01-01

Key points The present study tested whether HCN channels contribute to the organization of motor cortex and to skilled motor behaviour during a forelimb reaching task.Experimental reductions in HCN channel signalling increase the representation of complex multiple forelimb movements in motor cortex as assessed by intracortical microstimulation.Global HCN1KO mice exhibit reduced reaching accuracy and atypical movements during a single‐pellet reaching task relative to wild‐type controls.Acute pharmacological inhibition of HCN channels in forelimb motor cortex decreases reaching accuracy and increases atypical movements during forelimb reaching. Abstract The mechanisms by which distinct movements of a forelimb are generated from the same area of motor cortex have remained elusive. Here we examined a role for HCN channels, given their ability to alter synaptic integration, in the expression of forelimb movement responses during intracortical microstimulation (ICMS) and movements of the forelimb on a skilled reaching task. We used short‐duration high‐resolution ICMS to evoke forelimb movements following pharmacological (ZD7288), experimental (electrically induced cortical seizures) or genetic approaches that we confirmed with whole‐cell patch clamp to substantially reduce I h current. We observed significant increases in the number of multiple movement responses evoked at single sites in motor maps to all three experimental manipulations in rats or mice. Global HCN1 knockout mice were less successful and exhibited atypical movements on a skilled‐motor learning task relative to wild‐type controls. Furthermore, in reaching‐proficient rats, reaching accuracy was reduced and forelimb movements were altered during infusion of ZD7288 within motor cortex. Thus, HCN channels play a critical role in the separation of overlapping movement responses and allow for successful reaching behaviours. These data provide a novel mechanism for the encoding of multiple movement responses within shared networks of motor cortex. This mechanism supports a viewpoint of primary motor cortex as a site of dynamic integration for behavioural output. PMID:27568501

Atypical headbanging presentation of idiopathic sleep related rhythmic movement disorder: three cases with video-polysomnographic documentation.

PubMed

Yeh, Shih-Bin; Schenck, Carlos H

2012-08-15

To describe three cases of sleep related, idiopathic rhythmic movement disorder (RMD) with atypical headbanging, consisting of head punching and head slapping. Three consecutive patients (2 males [11 and 13 years old) and one female [22 years old]) presented with atypical headbanging of 6 years, 7 years, and 17 years duration. In 2 cases, typical rhythmic headbanging (with use of the head) shifted after 3-4 years to atypical headbanging, with frontal head punching that was quasi-rhythmic. In one case, atypical headbanging (head-slapping) was the initial and only RMD. There was no injury from the headbanging. Prenatal, perinatal, developmental, behavioral-psychological, medical-neurological, and family histories were negative. Clinical evaluations and nocturnal video-polysomnography with seizure montage were performed on all patients. Atypical headbanging was documented in all 3 cases; episodes always emerged late in the sleep cycle: from N2 sleep in 11 episodes, from REM sleep in 4 episodes, and from N1 sleep in 1 episode. Epileptiform activity was not detected. Clonazepam therapy was substantially effective in 1 case but not effective in 2 cases. These 3 cases of idiopathic atypical headbanging expand the literature on this RMD variant, as to our knowledge only one previously documented case has been reported.

Atypical choroid plexus papilloma: spontaneous resolution of diffuse leptomeningeal contrast enhancement after primary tumor removal in 2 pediatric cases.

PubMed

Scala, Marcello; Morana, Giovanni; Milanaccio, Claudia; Pavanello, Marco; Nozza, Paolo; Garrè, Maria Luisa

2017-09-01

Atypical choroid plexus papillomas can metastasize in the form of leptomeningeal seeding. Postoperative chemotherapy is the recommended first-line treatment when gross-total removal is not achieved or in cases of disseminated disease. Here the authors report on 2 children with atypical choroid plexus papillomas and MRI findings of diffuse leptomeningeal enhancement at diagnosis, later presenting with spontaneous resolution of the leptomeningeal involvement after removal of the primary lesions. Observations in this report expand our knowledge about the natural history and biological behavior of these tumors and highlight the role of close neuroimaging surveillance in the management of atypical choroid plexus papillomas in cases with MRI evidence of diffuse leptomeningeal enhancement at presentation.

Clinical outcomes according to symptom presentation in patients with acute myocardial infarction: Results from the FAST-MI 2010 registry.

PubMed

Puymirat, Etienne; Aissaoui, Nadia; Bonello, Laurent; Cayla, Guillaume; Labèque, Jean-Noel; Nallet, Olivier; Motreff, Pascal; Varenne, Olivier; Schiele, François; Ferrières, Jean; Simon, Tabassome; Danchin, Nicolas

2017-12-01

Atypical clinical presentation in acute myocardial infarction (AMI) patients is not uncommon; most studies suggest that it is associated with unfavorable prognosis. Long-term clinical impact differs according to predominant symptom presentation (typical chest pain, atypical chest pain, syncope, cardiac arrest, or dyspnea) in AMI patients. FAST-MI 2010, a nationwide French registry, included 4169 patients with AMI in 213 centers at the end of 2010 (76% of active centers). Demographics, medical history, hospital management, and outcomes were compared according to predominant symptom presentation. Typical chest pain with no other symptom was reported in 3020 patients (68% in STEMI patients, 76% in NSTEMI patients). Atypical chest pain, dyspnea, syncope, and cardiac arrest were reported in 11%, 11%, 5%, and 1%, respectively. Patients with atypical clinical presentation had a higher cardiovascular risk profile and received fewer medications and a less invasive strategy. Using Cox multivariate analysis, atypical chest pain was not associated with higher death rate at 3 years (HR: 0.96, 95% CI: 0.69-1.33, P = 0.78), whereas cardiac arrest (HR: 2.44, 95% CI: 1.00-5.97, P = 0.05), syncope (HR: 1.70, 95% CI: 1.18-2.46, P = 0.005), and dyspnea (HR: 1.66, 95% CI: 1.31-2.10, P < 0.001) were associated with higher long-term mortality compared with patients with typical isolated chest pain. Similar trends were observed in STEMI and NSTEMI populations. Atypical clinical presentation is observed in about 20% of AMI patients. Cardiac arrest, dyspnea, and syncope represent independent predictors of long-term mortality in STEMI and NSTEMI populations. © 2017 Wiley Periodicals, Inc.

Atypical teratoid rhabdoid tumor in a 65-year-old man presenting with disseminated leptomeningeal disease: A case report and review of the literature.

PubMed

Babi, Marc-Alain; Fecci, Peter; Luedke, Matthew; Pineda, Olinda; O'Keefe, Yasmin Ali

2018-01-01

Central nervous system atypical teratoid rhabdoid tumors are very rare aggressive tumor of childhood, primarily occurring at age of less than 3 years old. The prognosis of these tumors is very poor, with a reported median survival of 6-12 months in most cases. Treatment typically consists of aggressive chemotherapy and radiotherapy. We present the case of a 65-year-old man who presented with progressive encephalopathy and change in personality over 3 months period. The patient had further accelerated decline over 3 weeks. The diagnosis of atypical teratoid rhabdoid tumor initially remained elusive despite very extensive workup, but was eventually confirmed via open brain biopsy. To the best of our knowledge, this is the oldest reported case of atypical teratoid rhabdoid tumor in the literature. We further extend the spectrum of this rare disease.

Typical visual search performance and atypical gaze behaviors in response to faces in Williams syndrome.

PubMed

Hirai, Masahiro; Muramatsu, Yukako; Mizuno, Seiji; Kurahashi, Naoko; Kurahashi, Hirokazu; Nakamura, Miho

2016-01-01

Evidence indicates that individuals with Williams syndrome (WS) exhibit atypical attentional characteristics when viewing faces. However, the dynamics of visual attention captured by faces remain unclear, especially when explicit attentional forces are present. To clarify this, we introduced a visual search paradigm and assessed how the relative strength of visual attention captured by a face and explicit attentional control changes as search progresses. Participants (WS and controls) searched for a target (butterfly) within an array of distractors, which sometimes contained an upright face. We analyzed reaction time and location of the first fixation-which reflect the attentional profile at the initial stage-and fixation durations. These features represent aspects of attention at later stages of visual search. The strength of visual attention captured by faces and explicit attentional control (toward the butterfly) was characterized by the frequency of first fixations on a face or butterfly and on the duration of face or butterfly fixations. Although reaction time was longer in all groups when faces were present, and visual attention was not dominated by faces in any group during the initial stages of the search, when faces were present, attention to faces dominated in the WS group during the later search stages. Furthermore, for the WS group, reaction time correlated with eye-movement measures at different stages of searching such that longer reaction times were associated with longer face-fixations, specifically at the initial stage of searching. Moreover, longer reaction times were associated with longer face-fixations at the later stages of searching, while shorter reaction times were associated with longer butterfly fixations. The relative strength of attention captured by faces in people with WS is not observed at the initial stage of searching but becomes dominant as the search progresses. Furthermore, although behavioral responses are associated with some aspects of eye movements, they are not as sensitive as eye-movement measurements themselves at detecting atypical attentional characteristics in people with WS.

Atypical Cutaneous Sporotrichosis in an Immunocompetent Adult: Response to Potassium Iodide.

PubMed

Gandhi, Nikita; Chander, Ram; Jain, Arpita; Sanke, Sarita; Garg, Taru

2016-01-01

Cutaneous sporotrichosis, also known as "Rose Gardener's disease," caused by dimorphic fungus Sporothrix schenkii, is usually characterized by indolent nodular or nodulo-ulcerative lesions arranged in a linear pattern. We report bizarre nonlinear presentation of Sporotrichosis, in an immunocompetent adult occurring after a visit to Amazon rain forest, speculating infection with more virulent species of Sporothrix. The diagnosis was reached with the help of periodic acid-Schiff positive yeast cells and cigar shaped bodies seen in skin biopsy along with the therapeutic response to potassium iodide.

Atypical Cutaneous Sporotrichosis in an Immunocompetent Adult: Response to Potassium Iodide

PubMed Central

Gandhi, Nikita; Chander, Ram; Jain, Arpita; Sanke, Sarita; Garg, Taru

2016-01-01

Cutaneous sporotrichosis, also known as “Rose Gardener's disease,” caused by dimorphic fungus Sporothrix schenkii, is usually characterized by indolent nodular or nodulo-ulcerative lesions arranged in a linear pattern. We report bizarre nonlinear presentation of Sporotrichosis, in an immunocompetent adult occurring after a visit to Amazon rain forest, speculating infection with more virulent species of Sporothrix. The diagnosis was reached with the help of periodic acid-Schiff positive yeast cells and cigar shaped bodies seen in skin biopsy along with the therapeutic response to potassium iodide. PMID:27057047

The effect of the position of atypical character-to-sound correspondences on reading kanji words aloud: Evidence for a sublexical serially operating kanji reading process.

PubMed

Sambai, Ami; Coltheart, Max; Uno, Akira

2018-04-01

In English, the size of the regularity effect on word reading-aloud latency decreases across position of irregularity. This has been explained by a sublexical serially operating reading mechanism. It is unclear whether sublexical serial processing occurs in reading two-character kanji words aloud. To investigate this issue, we studied how the position of atypical character-to-sound correspondences influenced reading performance. When participants read inconsistent-atypical words aloud mixed randomly with nonwords, reading latencies of words with an inconsistent-atypical correspondence in the initial position were significantly longer than words with an inconsistent-atypical correspondence in the second position. The significant difference of reading latencies for inconsistent-atypical words disappeared when inconsistent-atypical words were presented without nonwords. Moreover, reading latencies for words with an inconsistent-atypical correspondence in the first position were shorter than for words with a typical correspondence in the first position. This typicality effect was absent when the atypicality was in the second position. These position-of-atypicality effects suggest that sublexical processing of kanji occurs serially and that the phonology of two-character kanji words is generated from both a lexical parallel process and a sublexical serial process.

Drug information update. Atypical antipsychotics and neuroleptic malignant syndrome: nuances and pragmatics of the association

PubMed Central

Sarkar, Siddharth; Gupta, Nitin

2017-01-01

Neuroleptic malignant syndrome (NMS) is a rare but potentially fatal adverse event associated with the use of antipsychotics. Although atypical antipsychotics were initially considered to carry no risk of NMS, reports have accumulated over time implicating them in NMS causation. Almost all atypical antipsychotics have been reported to be associated with NMS. The clinical profile of NMS caused by certain atypical antipsychotics such as clozapine has been reported to be considerably different from the NMS produced by typical antipsychotics, with diaphoresis encountered more commonly, and rigidity and tremor encountered less frequently. This article briefly discusses the evidence relating to the occurrence, presentation and management of NMS induced by atypical antipsychotics. PMID:28811916

Drug information update. Atypical antipsychotics and neuroleptic malignant syndrome: nuances and pragmatics of the association.

PubMed

Sarkar, Siddharth; Gupta, Nitin

2017-08-01

Neuroleptic malignant syndrome (NMS) is a rare but potentially fatal adverse event associated with the use of antipsychotics. Although atypical antipsychotics were initially considered to carry no risk of NMS, reports have accumulated over time implicating them in NMS causation. Almost all atypical antipsychotics have been reported to be associated with NMS. The clinical profile of NMS caused by certain atypical antipsychotics such as clozapine has been reported to be considerably different from the NMS produced by typical antipsychotics, with diaphoresis encountered more commonly, and rigidity and tremor encountered less frequently. This article briefly discusses the evidence relating to the occurrence, presentation and management of NMS induced by atypical antipsychotics.

Atypical psychotic symptoms and Dandy-Walker variant.

PubMed

Williams, Aislinn J; Wang, Zhenni; Taylor, Stephan F

2016-10-01

New-onset psychotic symptoms often respond well to antipsychotic treatment; however, symptoms may be difficult to treat when an underlying brain malformation is present. Here, we present a case of atypical psychotic symptoms in the context of a congenital cerebellar malformation (Dandy-Walker variant). The patient ultimately improved with paliperidone palmitate after multiple antipsychotic medication trials (both oral and one long-acting injectable) were ineffective. Neuroimaging may provide valuable diagnostic and prognostic information in cases of new-onset psychosis with atypical features and treatment resistance, even in the absence of neurologic signs and symptoms.

Characterization of Atypical Off-Flavor Compounds in Natural Cork Stoppers by Multidimensional Gas Chromatographic Techniques.

PubMed

Slabizki, Petra; Fischer, Claus; Legrum, Charlotte; Schmarr, Hans-Georg

2015-09-09

Natural cork stoppers with sensory deviations other than the typical cork taint were subgrouped according to their sensory descriptions and compared with unaffected control cork stoppers. The assessment of purge and trap extracts obtained from corresponding cork soaks was performed by heart-cut multidimensional gas chromatography-olfactometry (MDGC-O). The identification of compounds responsible for atypical cork taint detected in MDGC-O was further supported with additional multidimensional GC analysis in combination with mass spectrometric detection. Geosmin and 2-methylisoborneol were mainly found in cork stoppers described as moldy and cellarlike; 3-isopropyl-2-methoxypyrazine and 3-isobutyl-2-methoxypyrazine were found in cork stoppers described with green attributes. Across all cork subgroups, the impact compound for typical cork taint, 2,4,6-trichloroanisole (TCA), was present and is therefore a good marker for cork taint in general. Another potent aroma compound, 3,5-dimethyl-2-methoxypyrazine (MDMP), was also detected in each subgroup, obviously playing an important role with regard to the atypical cork taint. Sensory deviations possibly affecting the wine could be generated by MDMP and its presence should thus be monitored in routine quality control.

Atypical streptococcal infection of gingiva associated with chronic mouth breathing.

PubMed

Haytac, M Cenk; Oz, I Attila

2007-01-01

Streptococcal infections of oral tissues are mainly seen in young children who experience a variety of upper respiratory tract infections. The disease is characterized by fever, lymphadenopathy, and ulcers on the gingiva, lips, and tonsils. This case report presents an atypical streptococcal infection of the gingiva in an 18-year-old man. The patient was referred to the periodontology department complaining of a 2-month history of gingival enlargement. He had persistent fever (39.5 degrees C) and general malaise for 2 weeks. Intraoral examination revealed extremely inflamed and enlarged gingiva with spontaneous bleeding and suppuration. Based on the otolaryngologic consultation and the hematologic, immunologic, and microbiologic tests, the final diagnosis was an atypical streptococcal gingivitis with chronic adenoid-related mouth breathing and oral hygiene neglect as contributing factors. Treatment consisted of a broad-spectrum antibiotic regimen, supragingival and subgingival debridement, adenoidectomy, and scaling and root planing. A good response to nonsurgical therapy was achieved despite poor patient compliance, and no recurrence of gingival enlargement was observed after 1 year. Streptococcal gingivitis should be included in the differential diagnosis of suppurative gingival enlargements. Furthermore, chronic mouth breathing may initiate and/or contribute to this disease.

Can transcranial electrical stimulation improve learning difficulties in atypical brain development? A future possibility for cognitive training.

PubMed

Krause, Beatrix; Cohen Kadosh, Roi

2013-10-01

Learning difficulties in atypical brain development represent serious obstacles to an individual's future achievements and can have broad societal consequences. Cognitive training can improve learning impairments only to a certain degree. Recent evidence from normal and clinical adult populations suggests that transcranial electrical stimulation (TES), a portable, painless, inexpensive, and relatively safe neuroenhancement tool, applied in conjunction with cognitive training can enhance cognitive intervention outcomes. This includes, for instance, numerical processing, language skills and response inhibition deficits commonly associated with profound learning difficulties and attention-deficit hyperactivity disorder (ADHD). The current review introduces the functional principles, current applications and promising results, and potential pitfalls of TES. Unfortunately, research in child populations is limited at present. We suggest that TES has considerable promise as a tool for increasing neuroplasticity in atypically developing children and may be an effective adjunct to cognitive training in clinical settings if it proves safe. The efficacy and both short- and long-term effects of TES on the developing brain need to be critically assessed before it can be recommended for clinical settings. Copyright © 2013 The Authors. Published by Elsevier Ltd.. All rights reserved.

A rare case of atypical pleomorphic adenoma arising from periocular ectopic lacrimal gland.

PubMed

Wajda, Brynn N; Mancini, Ronald; Evers, Bret; Nick Hogan, R

2018-06-23

To describe features of atypical pleomorphic adenoma, a rare clinical entity, particularly when found in ectopic periocular lacrimal gland tissue. Case report of biopsy-confirmed periocular atypical pleomorphic adenoma. A 35-year-old female presented with a unique orbital lesion found to be ectopic lacrimal gland demonstrating atypical pleomorphic adenoma on formal histopathologic review. Pleomorphic adenoma is pathologically characterized as an epithelial lesion intermixed with mesenchymal elements. It is further classified as atypical with the presence of features such as hypercellularity, regions of necrosis or hyalinization, cellular dysplasia, capsular violation, and malignant characteristics without frank local extension or distant metastases. Due to its rarity, the natural history and prognosis of atypical pleomorphic adenoma is unclear. Physicians need to recognize this entity, and complete surgical excision with strict follow-up regimens are likely warranted.

Case for diagnosis*

PubMed Central

Fernandes, Iolanda Conde; Sanches, Madalena; Alves, Rosário; Selores, Manuela

2012-01-01

We report a clinical case of a rare variant of pemphigus - pemphigus herpetiformis - which combines the clinical features of dermatitis herpetiformis with the immunological findings of pemphigus. Due to its atypical presentation, it is frequently misdiagnosed as dermatitis herpetiformis. It is basically characterized by the herpetiform pattern of skin lesions, severe pruritus and by the presence of eosinophilic spongiosis confirmed on histopathology. We call attention to the excellent response to dapsone. PMID:23197221

Slower Rate of Binocular Rivalry in Autism

PubMed Central

Kravitz, Dwight J.; Freyberg, Jan; Baron-Cohen, Simon; Baker, Chris I.

2013-01-01

An imbalance between cortical excitation and inhibition is a central component of many models of autistic neurobiology. We tested a potential behavioral footprint of this proposed imbalance using binocular rivalry, a visual phenomenon in which perceptual experience is thought to mirror the push and pull of excitatory and inhibitory cortical dynamics. In binocular rivalry, two monocularly presented images compete, leading to a percept that alternates between them. In a series of trials, we presented separate images of objects (e.g., a baseball and a broccoli) to each eye using a mirror stereoscope and asked human participants with autism and matched control subjects to continuously report which object they perceived, or whether they perceived a mixed percept. Individuals with autism demonstrated a slower rate of binocular rivalry alternations than matched control subjects, with longer durations of mixed percepts and an increased likelihood to revert to the previously perceived object when exiting a mixed percept. Critically, each of these findings was highly predictive of clinical measures of autistic symptomatology. Control “playback” experiments demonstrated that differences in neither response latencies nor response criteria could account for the atypical dynamics of binocular rivalry we observed in autistic spectrum conditions. Overall, these results may provide an index of atypical cortical dynamics that may underlie both the social and nonsocial symptoms of autism. PMID:24155303

Detection and partial discrimination of atypical and classical bovine spongiform encephalopathies in cattle and primates using real-time quaking-induced conversion assay.

PubMed

Levavasseur, Etienne; Biacabe, Anne-Gaëlle; Comoy, Emmanuel; Culeux, Audrey; Grznarova, Katarina; Privat, Nicolas; Simoneau, Steve; Flan, Benoit; Sazdovitch, Véronique; Seilhean, Danielle; Baron, Thierry; Haïk, Stéphane

2017-01-01

The transmission of classical bovine spongiform encephalopathy (C-BSE) through contaminated meat product consumption is responsible for variant Creutzfeldt-Jakob disease (vCJD) in humans. More recent and atypical forms of BSE (L-BSE and H-BSE) have been identified in cattle since the C-BSE epidemic. Their low incidence and advanced age of onset are compatible with a sporadic origin, as are most cases of Creutzfeldt-Jakob disease (CJD) in humans. Transmissions studies in primates and transgenic mice expressing a human prion protein (PrP) indicated that atypical forms of BSE may be associated with a higher zoonotic potential than classical BSE, and require particular attention for public health. Recently, methods designed to amplify misfolded forms of PrP have emerged as promising tools to detect prion strains and to study their diversity. Here, we validated real-time quaking-induced conversion assay for the discrimination of atypical and classical BSE strains using a large series of bovine samples encompassing all the atypical BSE cases detected by the French Centre of Reference during 10 years of exhaustive active surveillance. We obtained a 100% sensitivity and specificity for atypical BSE detection. In addition, the assay was able to discriminate atypical and classical BSE in non-human primates, and also sporadic CJD and vCJD in humans. The RT-QuIC assay appears as a practical means for a reliable detection of atypical BSE strains in a homologous or heterologous PrP context.

Brief Report: DSM-5 Sensory Behaviours in Children with and without an Autism Spectrum Disorder

ERIC Educational Resources Information Center

Green, Dido; Chandler, Susie; Charman, Tony; Simonoff, Emily; Baird, Gillian

2016-01-01

Atypical responses to sensory stimuli are a new criterion in DSM-5 for the diagnosis of an autism spectrum disorder (ASD) but are also reported in other developmental disorders. Using the Short Sensory profile (SSP) and Autism Diagnostic Interview-Revised we compared atypical sensory behaviour (hyper- or hypo-reactivity to sensory input or unusual…

MyD88/CD40 Genetic Adjuvant Function in Cutaneous Atypical Antigen-Presenting Cells Contributes to DNA Vaccine Immunogenicity

PubMed Central

Slawin, Kevin M.; Levitt, Jonathan M.; Spencer, David M.

2016-01-01

Therapeutic DNA-based vaccines aim to prime an adaptive host immune response against tumor-associated antigens, eliminating cancer cells primarily through CD8+ cytotoxic T cell-mediated destruction. To be optimally effective, immunological adjuvants are required for the activation of tumor-specific CD8+ T cells responses by DNA vaccination. Here, we describe enhanced anti-tumor efficacy of an in vivo electroporation-delivered DNA vaccine by inclusion of a genetically encoded chimeric MyD88/CD40 (MC) adjuvant, which integrates both innate and adaptive immune signaling pathways. When incorporated into a DNA vaccine, signaling by the MC adjuvant increased antigen-specific CD8+ T cells and promoted elimination of pre-established tumors. Interestingly, MC-enhanced vaccine efficacy did not require direct-expression of either antigen or adjuvant by local antigen-presenting cells, but rather our data supports a key role for MC function in “atypical” antigen-presenting cells of skin. In particular, MC adjuvant-modified keratinocytes increased inflammatory cytokine secretion, upregulated surface MHC class I, and were able to increase in vitro and in vivo priming of antigen-specific CD8+ T cells. Furthermore, in the absence of critical CD8α+/CD103+ cross-priming dendritic cells, MC was still able to promote immune priming in vivo, albeit at a reduced level. Altogether, our data support a mechanism by which MC signaling activates an inflammatory phenotype in atypical antigen-presenting cells within the cutaneous vaccination site, leading to an enhanced CD8+ T cell response against DNA vaccine-encoded antigens, through both CD8α+/CD103+ dendritic cell-dependent and independent pathways. PMID:27741278

Children's reasoning about gender-atypical preferences in different settings.

PubMed

Conry-Murray, Clare

2013-05-01

Two age groups of children, 5- and 6-year-olds (n=30) and 8- and 9-year-olds (n=26), made judgments about which of two items a character should choose: a gender-typical item or a gender-atypical item that was preferred by the character. Judgments were made about situations where the character was (a) in a familiar public setting and (b) in a country where the reversed preference was typical for that culture. At both ages and in both settings, a majority of responses endorsed the character's atypical preference. However, at both ages, endorsements of the atypical preferences were significantly less frequent in the familiar public setting that in the norm-reversed setting, and justifications indicated that there would be social consequences for defying gender norms in the familiar setting. Copyright © 2012 Elsevier Inc. All rights reserved.

Atypical autoerotic deaths

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

Gowitt, G.T.; Hanzlick, R.L.

1992-06-01

So-called typical' autoerotic fatalities are the result of asphyxia due to mechanical compression of the neck, chest, or abdomen, whereas atypical' autoeroticism involves sexual self-stimulation by other means. The authors present five atypical autoerotic fatalities that involved the use of dichlorodifluoromethane, nitrous oxide, isobutyl nitrite, cocaine, or compounds containing 1-1-1-trichloroethane. Mechanisms of death are discussed in each case and the pertinent literature is reviewed.

Atypical presentations of genital herpes simplex virus in HIV-1 and HIV-2 effectively treated by imiquimod.

PubMed

McKendry, Anna; Narayana, Srinivasulu; Browne, Rita

2015-05-01

Atypical presentations of genital herpes simplex virus have been described in HIV. We report two cases with hypertrophic presentations which were effectively treated with imiquimod, one of which is the first reported case occurring in a patient with HIV-2. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Atypical fibrosarcomas derived from cutaneous ganglion cell-like cells in 2 domestic Djungarian hamsters (Phodopus sungorus).

PubMed

Kondo, Hirotaka; Onuma, Mamoru; Shibuya, Hisashi; Sato, Tsuneo; Abbott, Jeffrey R

2011-07-01

Androgen-dependent atypical fibromas are benign tumors derived from ganglion-cell-like cells that are particular to Djungarian hamsters (Phodopus sungorus). Masses excised from 2 hamsters were composed of pleomorphic ganglion cell-like cells supported by small to moderate amounts of collagenous matrix. Intracytoplasmic fibrils were present in silver-stained sections, and immunohistochemistry showed that the cells expressed vimentin, androgen receptor, and, in one case, estrogen receptor α. In contrast to previously reported atypical fibromas, these tumors had features of anaplasia and were locally invasive. We diagnosed the tumors as atypical fibrosarcomas and consider them an unusual malignant counterpart of atypical fibroma. Copyright 2011 by the American Association for Laboratory Animal Science

Atypical Presentations of Tularemia.

PubMed

Odegaard, Karah; Boersma, Beth; Keegan, James

2017-05-01

Francisella tularensis is a gram-negative coccobacillus that causes a condition commonly referred to as tularemia. There has been a dramatic increase in tularemia cases reported in South Dakota, many of which were challenging to diagnose due to atypical clinical manifestations. We describe an interesting case of pneumonic tularemia and summarize six similar cases, several of which presented with lung nodules suggestive of malignancy. According to the literature, this is only the third outbreak of pneumonic tularemia reported in the U.S. We believe it is important for clinicians to be aware of the increased incidence of tularemia in the area and to be vigilant in the diagnosis and management of these atypically presenting cases. Copyright© South Dakota State Medical Association.

Caribbean parkinsonism and other atypical parkinsonian disorders.

PubMed

Tolosa, Eduardo; Calandrella, Daniela; Gallardo, Marisol

2004-05-01

Atypical parkinsonism (AP) is a term applied to disorders characterized by parkinsonism that evolves rapidly, with poor or transient response to levodopa, or has other associated features such as early falls and postural instability, early autonomic failure, supranuclear gaze palsy, pyramidal or cerebellar signs, alien hand syndrome or severe ideomotor apraxia. The most common AP are multiple system atrophy, progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). Other APs include Caribbean parkinsonism (CP) and parkinsonism-dementia complex of Guam (PDC). In this review we provide an update in etiology, neuropathology, diagnosis and treatment of atypical parkinsonian disorders associated with protein tau deposit, also known as tauopathies.

Antiepileptic effect of olanzapine in epilepsy patients with atypical depressive comorbidity.

PubMed

Qiu, Xiangmiao; Zingano, Bianca; He, Shixu; Zhu, Xi; Peng, Anjiao; Duan, Jianan; Wolf, Peter; Chen, Lei

2018-06-15

Depression is relatively common among patients with epilepsy, but often with predominant atypical symptoms. Some antiepileptic drugs show positive psychotropic effects, but these are not always sufficient to stabilize mood in epilepsy patients. Antidepressants are recommended to treat atypical depression but are not always effective and present a certain risk of seizure provocation. Thus, new treatment options are welcome. Here, we describe three cases of refractory epilepsy with atypical depression in which olanzapine, contrary to its earlier reported proconvulsant effect, showed excellent antidepressant action and resulted in seizure control. Possible mechanisms of this action are discussed.

Telemetry-assisted early detection of STEMI in patients with atypical symptoms by paramedic-performed 12-lead ECG with subsequent cardiological analysis.

PubMed

Campo Dell' Orto, Marco; Hamm, Christian; Liebetrau, Christoph; Hempel, Dorothea; Merbs, Reinhold; Cuca, Colleen; Breitkreutz, Raoul

2017-08-01

ECG is an essential diagnostic tool in patients with acute coronary syndrome. We aimed to determine how many patients presenting with atypical symptoms for an acute myocardial infarction show ST-segment elevations on prehospital ECG. We also aimed to study the feasibility of telemetric-assisted prehospital ECG analysis. Between April 2010 and February 2011, consecutive emergency patients presenting with atypical symptoms such as nausea, vomiting, atypical chest pain, palpitations, hypertension, syncope, or dizziness were included in the study. After basic measures were completed, a 12-lead ECG was written and telemetrically transmitted to the cardiac center, where it was analyzed by attending physicians. Any identification of an ST-elevation myocardial infarction resulted in patient admission at the closest coronary angiography facility. A total of 313 emergency patients presented with the following symptoms: dyspnea, nausea, vomiting, dizziness/collapse, or acute hypertension. Thirty-four (11%) patients of this cohort were found to show ST-segment elevations on the 12-lead ECG. These patients were directly admitted to the closest coronary catheterization facility rather than the closest hospital. The time required for transmission and analysis of the ECG was 3.6±1.2 min. Telemetry-assisted 12-lead ECG analysis in a prehospital setting may lead to earlier detection of ST-elevation myocardial infarction in patients with atypical symptoms. Thus, a 12-lead ECG should be considered in all prehospital patients both with typical and atypical symptoms.

Pancreatic Neuroendocrine Tumor with Atypical Radiologic Presentation.

PubMed

Singh, Ramandeep; Calhoun, Sean; Shin, Minchul; Katz, Robert

2008-01-01

An atypical radiographic presentation of a rare non-functional pancreatic neuroendocrine tumor as seen on US, CT and MRI is described. Radiographic-pathologic correlation via gross autopsy specimens and immuno-histochemical staining demonstrates the pancreas to be markedly enlarged with extensive calcifications and numerous tiny cysts secondary to diffuse neoplastic infiltration without a focal mass.

Atypical Teratoid Rhabdoid Tumor in a Teenager with Unusual Infiltration Into the Jugular Foramen.

PubMed

Udaka, Yoko T; Yoon, Janet M; Malicki, Denise M; Khanna, Paritosh C; Levy, Michael L; Crawford, John R

2015-12-01

Atypical teratoid rhabdoid tumor is a rare malignant neoplasm that represents 1%-2% of all pediatric central nervous system tumors. Immunohistochemistry plays an important role in establishing the diagnosis with a loss of INI-1 staining in tumor cells. In this case report, we describe a teenager with an unusual presentation and pattern of infiltration of the tumor. A 13-year-old boy presented with a history over several months of progressive nausea, weight loss, and hoarseness of voice associated with multiple lower cranial nerve palsies on neurologic examination. Magnetic resonance imaging revealed a large heterogeneously enhancing extra-axial neoplasm with extension and bony expansion of the jugular foramen. After near total resection, neuropathology demonstrated the absence of INI-1 expression consistent with a diagnosis of atypical teratoid rhabdoid tumor. This case highlights the diverse clinical presentation and infiltrative potential of atypical teratoid rhabdoid tumors, thus expanding the differential diagnosis of extra-axial tumors invading the jugular foramen. Copyright © 2015 Elsevier Inc. All rights reserved.

Motions of the hand expose the partial and parallel activation of stereotypes.

PubMed

Freeman, Jonathan B; Ambady, Nalini

2009-10-01

Perceivers spontaneously sort other people's faces into social categories and activate the stereotype knowledge associated with those categories. In the work described here, participants, presented with sex-typical and sex-atypical faces (i.e., faces containing a mixture of male and female features), identified which of two gender stereotypes (one masculine and one feminine) was appropriate for the face. Meanwhile, their hand movements were measured by recording the streaming x, y coordinates of the computer mouse. As participants stereotyped sex-atypical faces, real-time motor responses exhibited a continuous spatial attraction toward the opposite-gender stereotype. These data provide evidence for the partial and parallel activation of stereotypes belonging to alternate social categories. Thus, perceptual cues of the face can trigger a graded mixture of simultaneously active stereotype knowledge tied to alternate social categories, and this mixture settles over time onto ultimate judgments.

[Legionnaire's disease with predominant liver involvement].

PubMed

Magro Molina, A; Plaza Poquet, V; Giner Galvañ, V

2002-04-01

Like other pneumonias due to atypical agents, pneumonia due to Legionela Pneumophila has no characteristic clinical facts, although fever and non-productive cough are almost constant and diarrhea with changes in mental status are common. Hyponatremia and moderate transient hypertransaminasemia are common too. Severe systemic affectation after hematogenous dissemination similar to those described with typical bacterial pneumonias is a prominent difference with other atypical agents, with high mortality rates in the absence of appropriate treatment. Etiological diagnosis is very difficult and it is normally achieved late in the course of the infection. Because of diagnostic difficulties and potential mortality in predisposed patients, empirical antibiotherapy has been extensively recommended. We present a patient affected by critical community-acquired pneumonia due to Legionela Pneumophila serogroup 1 with liver alteration as the main manifestation and good response to empirical antibiotherapy with claritromycine and rifampin. We recommended the empirical use of such therapy in those pneumonias without microbiological diagnosis and torpid evolution.

Localizing Circuits of Atrial Macro-Reentry Using ECG Planes of Coherent Atrial Activation

PubMed Central

Kahn, Andrew M.; Krummen, David E.; Feld, Gregory K.; Narayan, Sanjiv M.

2007-01-01

Background The complexity of ablation for atrial macro-reentry (AFL) varies significantly depending upon the circuit location. Presently, surface ECG analysis poorly separates left from right atypical AFL and from some cases of typical AFL, delaying diagnosis until invasive study. Objective To differentiate and localize the intra-atrial circuits of left atypical AFL, right atypical, and typical AFL using quantitative ECG analysis. Methods We studied 66 patients (54 M, age 59±14 years) with typical (n=35), reverse typical (n=4) and atypical (n=27) AFL. For each, we generated filtered atrial waveforms from ECG leads V5 (X-axis), aVF (Y) and V1 (Z) by correlating a 120 ms F-wave sample to successive ECG regions. Atrial spatial loops were plotted for 3 orthogonal planes (frontal, XY=V5/aVF; sagittal, YZ=aVF/V1; axial, XZ=V5/V1), then cross-correlated to measure spatial regularity (‘coherence’: range −1 to 1). Results Mean coherence was greatest in the XY plane (p<10−3 vs XZ or YZ). Atypical AFL showed lower coherence than typical AFL in XY (p<10−3), YZ (p<10−6) and XZ (p<10−5) planes. Atypical left AFL could be separated from atypical right AFL by lower XY coherence (p=0.02); for this plane coherence < 0.69 detected atypical left AFL with 84% specificity and 75% sensitivity. F-wave amplitude did not separate typical, atypical right or atypical left AFL (p=NS). Conclusions Atypical AFL shows lower spatial coherence than typical AFL, particularly in sagittal and axial planes. Coherence in the Cartesian frontal plane separated left and right atypical AFL. Such analyses may be used to plan ablation strategy from the bedside. PMID:17399632

A crying baby: not simply infant colic.

PubMed

Onesimo, Roberta; Giorgio, Valentina; Monaco, Serena; Fundarò, Carlo

2012-08-21

Hypertrophic pyloric stenosis is a relatively common condition, but atypical presentations can present a diagnostic challenge. We describe the case of a 9-week-old Latin male infant who presented with a 2-day history of intermittent crying and poor feeding. He was suspected to have intussusception but was affected by and successfully treated for hypertrophic pyloric stenosis. Diagnostic tools of atypical HPS cases are discussed.

Taxonomic and ad hoc categorization within the two cerebral hemispheres.

PubMed

Shen, Yeshayahu; Aharoni, Bat-El; Mashal, Nira

2015-01-01

A typicality effect refers to categorization which is performed more quickly or more accurately for typical than for atypical members of a given category. Previous studies reported a typicality effect for category members presented in the left visual field/right hemisphere (RH), suggesting that the RH applies a similarity-based categorization strategy. However, findings regarding the typicality effect within the left hemisphere (LH) are less conclusive. The current study tested the pattern of typicality effects within each hemisphere for both taxonomic and ad hoc categories, using words presented to the left or right visual fields. Experiment 1 tested typical and atypical members of taxonomic categories as well as non-members, and Experiment 2 tested typical and atypical members of ad hoc categories as well as non-members. The results revealed a typicality effect in both hemispheres and in both types of categories. Furthermore, the RH categorized atypical stimuli more accurately than did the LH. Our findings suggest that both hemispheres rely on a similarity-based categorization strategy, but the coarse semantic coding of the RH seems to facilitate the categorization of atypical members.

Dysfunctions in brain networks supporting empathy: An fMRI study in adults with autism spectrum disorders

PubMed Central

Schulte-Rüther, Martin; Greimel, Ellen; Markowitsch, Hans J.; Kamp-Becker, Inge; Remschmidt, Helmut; Fink, Gereon R.; Piefke, Martina

2010-01-01

The present study aimed at identifying dysfunctions in brain networks that may underlie disturbed empathic behavior in autism spectrum disorders (ASD). During functional magnetic resonance imaging, subjects were asked to identify the emotional state observed in a facial stimulus (other-task) or to evaluate their own emotional response (self-task). Behaviorally, ASD subjects performed equally to the control group during the other-task, but showed less emotionally congruent responses in the self-task. Activations in brain regions related to theory of mind were observed in both groups. Activations of the medial prefrontal cortex (MPFC) were located in dorsal subregions in ASD subjects and in ventral areas in control subjects. During the self-task, ASD subjects activated an additional network of frontal and inferior temporal areas. Frontal areas previously associated with the human mirror system were activated in both tasks in control subjects, while ASD subjects recruited these areas during the self-task only. Activations in the ventral MPFC may provide the basis for one's “emotional bond” with other persons’ emotions. Such atypical patterns of activation may underlie disturbed empathy in individuals with ASD. Subjects with ASD may use an atypical cognitive strategy to gain access to their own emotional state in response to other people's emotions. PMID:20945256

Dysfunctions in brain networks supporting empathy: an fMRI study in adults with autism spectrum disorders.

PubMed

Schulte-Rüther, Martin; Greimel, Ellen; Markowitsch, Hans J; Kamp-Becker, Inge; Remschmidt, Helmut; Fink, Gereon R; Piefke, Martina

2011-01-01

The present study aimed at identifying dysfunctions in brain networks that may underlie disturbed empathic behavior in autism spectrum disorders (ASD). During functional magnetic resonance imaging, subjects were asked to identify the emotional state observed in a facial stimulus (other-task) or to evaluate their own emotional response (self-task). Behaviorally, ASD subjects performed equally to the control group during the other-task, but showed less emotionally congruent responses in the self-task. Activations in brain regions related to theory of mind were observed in both groups. Activations of the medial prefrontal cortex (MPFC) were located in dorsal subregions in ASD subjects and in ventral areas in control subjects. During the self-task, ASD subjects activated an additional network of frontal and inferior temporal areas. Frontal areas previously associated with the human mirror system were activated in both tasks in control subjects, while ASD subjects recruited these areas during the self-task only. Activations in the ventral MPFC may provide the basis for one's "emotional bond" with other persons' emotions. Such atypical patterns of activation may underlie disturbed empathy in individuals with ASD. Subjects with ASD may use an atypical cognitive strategy to gain access to their own emotional state in response to other people's emotions.

Impaired downregulation of visual cortex during auditory processing is associated with autism symptomatology in children and adolescents with autism spectrum disorder.

PubMed

Jao Keehn, R Joanne; Sanchez, Sandra S; Stewart, Claire R; Zhao, Weiqi; Grenesko-Stevens, Emily L; Keehn, Brandon; Müller, Ralph-Axel

2017-01-01

Autism spectrum disorders (ASD) are pervasive developmental disorders characterized by impairments in language development and social interaction, along with restricted and stereotyped behaviors. These behaviors often include atypical responses to sensory stimuli; some children with ASD are easily overwhelmed by sensory stimuli, while others may seem unaware of their environment. Vision and audition are two sensory modalities important for social interactions and language, and are differentially affected in ASD. In the present study, 16 children and adolescents with ASD and 16 typically developing (TD) participants matched for age, gender, nonverbal IQ, and handedness were tested using a mixed event-related/blocked functional magnetic resonance imaging paradigm to examine basic perceptual processes that may form the foundation for later-developing cognitive abilities. Auditory (high or low pitch) and visual conditions (dot located high or low in the display) were presented, and participants indicated whether the stimuli were "high" or "low." Results for the auditory condition showed downregulated activity of the visual cortex in the TD group, but upregulation in the ASD group. This atypical activity in visual cortex was associated with autism symptomatology. These findings suggest atypical crossmodal (auditory-visual) modulation linked to sociocommunicative deficits in ASD, in agreement with the general hypothesis of low-level sensorimotor impairments affecting core symptomatology. Autism Res 2017, 10: 130-143. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

Response to crizotinib in a non-small-cell lung cancer patient harboring an EML4-ALK fusion with an atypical LTBP1 insertion.

PubMed

Aguado, Cristina; Gil, Maria-de-Los-Llanos; Yeste, Zaira; Giménez-Capitán, Ana; Teixidó, Cristina; Karachaliou, Niki; Viteri, Santiago; Rosell, Rafael; Molina-Vila, Miguel A

2018-01-01

Fusion of the anaplastic lymphoma receptor tyrosine kinase gene ( ALK ) with the echinoderm microtubule-associated protein 4 gene ( EML4 ) is the second most common actionable alteration in non-small-cell lung cancer, with a frequency of 5%. Here, we present a case of an EML4-ALK-positive patient with an atypical in-frame insertion from the LTBP1 gene in the canonical junction of variant 1 . The patient was a 39-year-old never-smoker female diagnosed with Stage IV lung adenocarcinoma. A core biopsy was negative for EGFR and KRAS mutations but positive for ALK immunohistochemistry and fluorescence in situ hybridization. When submitted to nCounter, the sample showed a 3'/5' imbalance indicative of an ALK rearrangement, but failed to give a positive signal for any of the variants tested. Finally, a band with a molecular weight higher than expected appeared after reverse transcriptase-polymerase chain reaction analysis. When Sanger sequencing was performed, the band revealed an atypical EML4-ALK fusion gene with an in-frame 129 bp insertion. A 115 bp segment of the insertion corresponded to an intronic region of LTBP1 , a gene located in the short arm of chromosome 2, between ALK and EML4 . The patient received crizotinib and showed a good therapeutic response that is still ongoing after 12 months. Our result suggests that short in-frame insertions of other genes in the EML4-ALK junction do not affect the sensitivity of the EML4-ALK fusion protein to crizotinib.

Goodpasture’s Disease: An Uncommon Disease With an Atypical Clinical Course

PubMed Central

Shiferaw, Bethel; Miro, Viktor; Smith, Carroll; Akella, Jagadish; Chua, Walter; Kim, Zae

2016-01-01

Goodpasture’s disease is an uncommon composite of features including renal failure with pulmonary hemorrhage secondary to an autoimmune response that specifically targets these organ systems. We present a case of particular interest in regards to atypical presentation, and the uncommon treatment that the patient underwent. A 65-year-old Afghani female arrived with complaints of nausea, vomiting, loss of appetite, malaise, decreased urine output, exertional dyspnea, and cough. The patient presented initially with renal failure and unexpectedly developed respiratory failure after hemodialysis. Initial CT of thorax revealed diffuse bilateral pulmonary edema. Subsequently, the patient received a bronchoscopy demonstrating alveolar hemorrhage, which highlights a clinician’s need to maintain a differential and reassess patients. Anti-GBM antibody in the serum was detected and the renal biopsy revealed evidence of the antibody on immunofluorescence. In regards to management, the patient could only be treated with plasmapheresis as she had contraindication to initiation of immunosuppression, after which she showed significant clinical improvement. We would like to highlight the benefit of plasmapheresis without concomitant immunosuppression and recommend such an approach to be considered in similar clinical scenarios, where contraindication for immunosuppressant therapy exists. PMID:26668684

Neural bases of Theory of Mind in children with autism spectrum disorders and children with conduct problems and callous-unemotional traits.

PubMed

O'Nions, Elizabeth; Sebastian, Catherine L; McCrory, Eamon; Chantiluke, Kaylita; Happé, Francesca; Viding, Essi

2014-09-01

Individuals with autism spectrum disorders (ASD) have difficulty understanding other minds (Theory of Mind; ToM), with atypical processing evident at both behavioural and neural levels. Individuals with conduct problems and high levels of callous-unemotional (CU) traits (CP/HCU) exhibit reduced responsiveness to others' emotions and difficulties interacting with others, but nonetheless perform normally in experimental tests of ToM. The present study aimed to examine the neural underpinnings of ToM in children (aged 10-16) with ASD (N = 16), CP/HCU (N = 16) and typically developing (TD) controls (N = 16) using a non-verbal cartoon vignette task. Whilst individuals with ASD were predicted to show reduced fMRI responses across regions involved in ToM processing, CP/HCU individuals were predicted to show no differences compared with TD controls. The analyses indicated that neural responses did not differ between TD and CP/HCU groups during ToM. TD and CP/HCU children exhibited significantly greater medial prefrontal cortex responses during ToM than did the ASD group. Within the ASD group, responses in medial prefrontal cortex and right temporoparietal junction (TPJ) correlated with symptom severity as measured by the Autism Diagnostic Observation Schedule (ADOS). Findings suggest that although both ASD and CP/HCU are characterized by social difficulties, only children with ASD display atypical neural processing associated with ToM. © 2014 The Authors. Developmental Science Published by John Wiley & Sons Ltd.

Hunger, inhibitory control and distress-induced emotional eating.

PubMed

van Strien, Tatjana; Ouwens, Machteld A; Engel, Carmen; de Weerth, Carolina

2014-08-01

Self-reported emotional eating has been found to significantly moderate distress-induced food intake, with low emotional eaters eating less after a stress task than after a control task and high emotional eaters eating more. The aim of the present study was to explore possible underlying mechanisms by assessing possible associations with (1) ability to experience the typical post-stress reduction of hunger and (2) inhibitory control. We studied these effects in 54 female students who were preselected on the basis of extremely high or low scores on an emotional eating questionnaire. Using a within subject design we measured the difference of actual food or snack intake after a control or a stress task (Trier Social Stress Test). As expected, the moderator effect of emotional eating on distress-induced food intake was found to be only present in females with a failure to report the typical reduction of hunger immediately after a stress task (an a-typical hunger stress response). Contrary to our expectations, this moderator effect of emotional eating was also found to be only present in females with high ability to stop motor impulses (high inhibitory control). These findings suggest that an a-typical hunger stress response but not poor inhibitory control may underlie the moderator effect of emotional eating on distress-induced food intake. However, inhibitory control may play a role whether or not there is a moderator effect of self-reported emotional eating on distress-induced food intake. Copyright © 2014 Elsevier Ltd. All rights reserved.

Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome.

PubMed

Sánchez Chinchilla, Daniel; Pinto, Sheila; Hoppe, Bernd; Adragna, Marta; Lopez, Laura; Justa Roldan, Maria Luisa; Peña, Antonia; Lopez Trascasa, Margarita; Sánchez-Corral, Pilar; Rodríguez de Córdoba, Santiago

2014-09-05

Atypical hemolytic uremic syndrome is characterized by vascular endothelial damage caused by complement dysregulation. Consistently, complement inhibition therapies are highly effective in most patients with atypical hemolytic uremic syndrome. Recently, it was shown that a significant percentage of patients with early-onset atypical hemolytic uremic syndrome carry mutations in diacylglycerol kinase-ε, an intracellular protein with no obvious role in complement. These data support an alternative, complement-independent mechanism leading to thrombotic microangiopathy that has implications for treatment of early-onset atypical hemolytic uremic syndrome. To get additional insights into this new form of atypical hemolytic uremic syndrome, the diacylglycerol kinase-ε gene in a cohort with atypical hemolytic uremic syndrome was analyzed. Eighty-three patients with early-onset atypical hemolytic uremic syndrome (<2 years) enrolled in the Spanish atypical hemolytic uremic syndrome registry between 1999 and 2013 were screened for mutations in diacylglycerol kinase-ε. These patients were also fully characterized for mutations in the genes encoding factor H, membrane cofactor protein, factor I, C3, factor B, and thrombomodulin CFHRs copy number variations and rearrangements, and antifactor H antibodies. Four patients carried mutations in diacylglycerol kinase-ε, one p.H536Qfs*16 homozygote and three compound heterozygotes (p.W322*/p.P498R, two patients; p.Q248H/p.G484Gfs*10, one patient). Three patients also carried heterozygous mutations in thrombomodulin or C3. Extensive plasma infusions controlled atypical hemolytic uremic syndrome recurrences and prevented renal failure in the two patients with diacylglycerol kinase-ε and thrombomodulin mutations. A positive response to plasma infusions and complement inhibition treatment was also observed in the patient with concurrent diacylglycerol kinase-ε and C3 mutations. Data suggest that complement dysregulation influences the onset and disease severity in carriers of diacylglycerol kinase-ε mutations and that treatments on the basis of plasma infusions and complement inhibition are potentially useful in patients with combined diacylglycerol kinase-ε and complement mutations. A comprehensive understanding of the genetic component predisposing to atypical hemolytic uremic syndrome is, therefore, critical to guide an effective treatment. Copyright © 2014 by the American Society of Nephrology.

Complement Mutations in Diacylglycerol Kinase-ε–Associated Atypical Hemolytic Uremic Syndrome

PubMed Central

Sánchez Chinchilla, Daniel; Pinto, Sheila; Hoppe, Bernd; Adragna, Marta; Lopez, Laura; Justa Roldan, Maria Luisa; Peña, Antonia; Lopez Trascasa, Margarita; Sánchez-Corral, Pilar; Rodríguez de Córdoba, Santiago

2014-01-01

Background and objectives Atypical hemolytic uremic syndrome is characterized by vascular endothelial damage caused by complement dysregulation. Consistently, complement inhibition therapies are highly effective in most patients with atypical hemolytic uremic syndrome. Recently, it was shown that a significant percentage of patients with early-onset atypical hemolytic uremic syndrome carry mutations in diacylglycerol kinase-ε, an intracellular protein with no obvious role in complement. These data support an alternative, complement-independent mechanism leading to thrombotic microangiopathy that has implications for treatment of early-onset atypical hemolytic uremic syndrome. To get additional insights into this new form of atypical hemolytic uremic syndrome, the diacylglycerol kinase-ε gene in a cohort with atypical hemolytic uremic syndrome was analyzed. Design, setting, participants, & measurements Eighty-three patients with early-onset atypical hemolytic uremic syndrome (<2 years) enrolled in the Spanish atypical hemolytic uremic syndrome registry between 1999 and 2013 were screened for mutations in diacylglycerol kinase-ε. These patients were also fully characterized for mutations in the genes encoding factor H, membrane cofactor protein, factor I, C3, factor B, and thrombomodulin CFHRs copy number variations and rearrangements, and antifactor H antibodies. Results Four patients carried mutations in diacylglycerol kinase-ε, one p.H536Qfs*16 homozygote and three compound heterozygotes (p.W322*/p.P498R, two patients; p.Q248H/p.G484Gfs*10, one patient). Three patients also carried heterozygous mutations in thrombomodulin or C3. Extensive plasma infusions controlled atypical hemolytic uremic syndrome recurrences and prevented renal failure in the two patients with diacylglycerol kinase-ε and thrombomodulin mutations. A positive response to plasma infusions and complement inhibition treatment was also observed in the patient with concurrent diacylglycerol kinase-ε and C3 mutations. Conclusions Data suggest that complement dysregulation influences the onset and disease severity in carriers of diacylglycerol kinase-ε mutations and that treatments on the basis of plasma infusions and complement inhibition are potentially useful in patients with combined diacylglycerol kinase-ε and complement mutations. A comprehensive understanding of the genetic component predisposing to atypical hemolytic uremic syndrome is, therefore, critical to guide an effective treatment. PMID:25135762

Atypical Presentation of Ocular Toxoplasmosis: A Case Report of Exudative Retinal Detachment and Choroidal Ischemia.

PubMed

Al-Zahrani, Yahya A; Al-Dhibi, Hassan A; Al-Abdullah, Abdulelah A

2016-01-01

A 24-year-old healthy male presented with a chief complaint of blurred vision in the right eye for 1-week. Fundus examination indicated right exudative retinal detachment and choroidal ischemia. The patient responded well to anti-toxoplasmosis medications and steroids. Exudative retinal detachment and choroidal ischemia are atypical presentations of ocular toxoplasmosis. However, both conditions responded well to anti.parasitic therapy with steroid.

Neural Language Processing in Adolescent First-Language Learners: Longitudinal Case Studies in American Sign Language

PubMed Central

Ferjan Ramirez, Naja; Leonard, Matthew K.; Davenport, Tristan S.; Torres, Christina; Halgren, Eric; Mayberry, Rachel I.

2016-01-01

One key question in neurolinguistics is the extent to which the neural processing system for language requires linguistic experience during early life to develop fully. We conducted a longitudinal anatomically constrained magnetoencephalography (aMEG) analysis of lexico-semantic processing in 2 deaf adolescents who had no sustained language input until 14 years of age, when they became fully immersed in American Sign Language. After 2 to 3 years of language, the adolescents' neural responses to signed words were highly atypical, localizing mainly to right dorsal frontoparietal regions and often responding more strongly to semantically primed words (Ferjan Ramirez N, Leonard MK, Torres C, Hatrak M, Halgren E, Mayberry RI. 2014. Neural language processing in adolescent first-language learners. Cereb Cortex. 24 (10): 2772–2783). Here, we show that after an additional 15 months of language experience, the adolescents' neural responses remained atypical in terms of polarity. While their responses to less familiar signed words still showed atypical localization patterns, the localization of responses to highly familiar signed words became more concentrated in the left perisylvian language network. Our findings suggest that the timing of language experience affects the organization of neural language processing; however, even in adolescence, language representation in the human brain continues to evolve with experience. PMID:25410427

Hemodynamic response of children with attention-deficit and hyperactive disorder (ADHD) to emotional facial expressions.

PubMed

Ichikawa, Hiroko; Nakato, Emi; Kanazawa, So; Shimamura, Keiichi; Sakuta, Yuiko; Sakuta, Ryoichi; Yamaguchi, Masami K; Kakigi, Ryusuke

2014-10-01

Children with attention-deficit/hyperactivity disorder (ADHD) have difficulty recognizing facial expressions. They identify angry expressions less accurately than typically developing (TD) children, yet little is known about their atypical neural basis for the recognition of facial expressions. Here, we used near-infrared spectroscopy (NIRS) to examine the distinctive cerebral hemodynamics of ADHD and TD children while they viewed happy and angry expressions. We measured the hemodynamic responses of 13 ADHD boys and 13 TD boys to happy and angry expressions at their bilateral temporal areas, which are sensitive to face processing. The ADHD children showed an increased concentration of oxy-Hb for happy faces but not for angry faces, while TD children showed increased oxy-Hb for both faces. Moreover, the individual peak latency of hemodynamic response in the right temporal area showed significantly greater variance in the ADHD group than in the TD group. Such atypical brain activity observed in ADHD boys may relate to their preserved ability to recognize a happy expression and their difficulty recognizing an angry expression. We firstly demonstrated that NIRS can be used to detect atypical hemodynamic response to facial expressions in ADHD children. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

Atypical antibody responses in dengue vaccine recipients.

PubMed

Kanesa-Thasan, N; Sun, W; Ludwig, G V; Rossi, C; Putnak, J R; Mangiafico, J A; Innis, B L; Edelman, R

2003-12-01

Eight of 69 (12%) healthy adult volunteers vaccinated with monovalent live-attenuated dengue virus (DENV) vaccine candidates had atypical antibody responses, with depressed IgM:IgG antibody ratios and induction of high-titer hemagglutination-inhibiting and neutralizing (NT) antibodies to all four DENV serotypes. These features suggested flavivirus exposure prior to DENV vaccination, yet no volunteer had a history of previous flavivirus infection, flavivirus vaccination, or antibody to flaviviruses evident before DENV vaccination. Moreover, production of antibody to DENV by atypical responders (AR) was not accelerated compared with antibody responses in the 61 flavivirus-naive responders (NR). Further evaluation revealed no differences in sex, age, race, DENV vaccine candidate received, or clinical signs and symptoms following vaccination between AR and NR. However, viremia was delayed at the onset in AR compared with NR. A comparative panel of all AR and five randomly selected NR found flavivirus cross-reactive antibody after vaccination only in AR. Unexpectedly, six of eight AR had NT antibodies to yellow fever virus (YFV) > 1:10 before vaccination while NR had none (P = 0.04). The AR also universally demonstrated YFV NT antibody titers > or = 1:160 after DENV vaccination, whereas four of five NR failed to seroconvert (P = 0.02). Yellow fever virus priming broadens the antibody response to monovalent DENV vaccination. The effect of flavivirus priming on the clinical and immunologic response to tetravalent DENV vaccine remains to be determined.

Perianal atypical leiomyoma: A case report.

PubMed

Sun, Pingliang; Ou, Hailing; Huang, Shen; Wei, Longxiang; Zhang, Sen; Liu, Jiali; Geng, Shuguang; Yang, Kun

2017-12-01

Reports on perianal atypical leiomyoma, a perianal tumor, are rare. We confirmed a perianal atypical leiomyoma by its clinical presentation, magnetic resonance imaging findings, and immunohistochemistry. A 28-year-old female with a perianal mass found more than 4 years ago. The 5cm_4cm_4cm sized mass was located on the left side of the anus and vagina; The magnetic resonance imaging (MRI) scan revealed: A 4.1cm × 5.2cm × 4.9cm sized round mass was observed on the left side of the circumference. Perianal atypical leiomyoma. anal peripheral mass resection was performed under lumbar anesthesia. The postoperative course was uneventful, healing, the patient was discharged. Perianal atypical leiomyomas are benign tumors, but with the clinically atypical leiomyoma, it is sometimes difficult to distinguish between potential malignant smooth muscle tumors,and there may be malignant changes. Surgery should ensure complete resection, and to avoid postoperative recurrence, there should be a regular follow-up.

[Atypical cerebellar neurocytoma resembling a hemangioblastoma. A case report].

PubMed

Lista Martínez, Olalla; Rivas López, Luis Alfredo; Pombo Otero, Jorge Francisco; Amaro Cendón, Santiago; Bravo García, Christian; Villa Fernández, Juan Manuel

2014-01-01

Through August 2013, 105 cases of intracranial extraventricular neurocytoma (EVN) had been described; 6% were located in cerebellum and 22% were atypical EVN. A rare morphologic form of neurocytoma, atypical EVN has had only 24 cases reported to date. Its prognosis is poorer than the typical central neurocytoma. This case report describes an atypical cerebellar EVN, a form that has not been reported yet, hence the interest of this article. We emphasise its cystic nature and mural nodule, in an infrequent presentation. EVN are low-incidence tumours that we need to take into consideration when making the differential diagnosis of cystic cerebellar lesions with mural nodule. Given that the prognosis of atypical EVNs depends on the atypical nature and on the grade of resection, medical follow up has to be more constant, due to the greater degree of recurrence. Copyright © 2013 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

Electrophysiological evidence for attenuated auditory recovery cycles in children with specific language impairment

PubMed Central

Stevens, Courtney; Paulsen, David; Yasen, Alia; Mitsunaga, Leila; Neville, Helen

2012-01-01

Previous research indicates that at least some children with specific language impairment (SLI) show a reduced neural response when non-linguistic tones were presented at rapid rates. However, this past research has examined older children, and it is unclear whether such deficits emerge earlier in development. It is also unclear whether atypical refractory effects differ for linguistic versus non-linguistic stimuli or can be explained by deficits in selective auditory attention reported among children with SLI. In the present study, auditory refractory periods were compared in a group of 24 young children with SLI (age 3–8 years) and 24 matched control children. Event-related brain potentials (ERPs) were recorded and compared to 100 ms linguistic and non-linguistic probe stimuli presented at inter-stimulus intervals (ISIs) of 200, 500, or 1000 ms. These probes were superimposed on story narratives when attended and ignored, permitting an experimental manipulation of selective attention within the same paradigm. Across participants, clear refractory effects were observed with this paradigm, evidenced as a reduced amplitude response from 100 to 200 ms at shorter ISIs. Children with SLI showed reduced amplitude ERPs relative to the typically-developing group at only the shortest, 200 ms, ISI and this difference was over the left-hemisphere for linguistic probes and over the right-hemisphere for non-linguistic probes. None of these effects was influenced by the direction of selective attention. Taken together, these findings suggest that deficits in the neural representation of rapidly presented auditory stimuli may be one risk factor for atypical language development. PMID:22265331

Born criminal? Differences in structural, functional and behavioural lateralization between criminals and noncriminals.

PubMed

Savopoulos, Priscilla; Lindell, Annukka K

2018-02-15

Over 100 years ago Lombroso [(1876/2006). Criminal man. Durham: Duke University Press] proposed a biological basis for criminality. Based on inspection of criminals' skulls he theorized that an imbalance of the cerebral hemispheres was amongst 18 distinguishing features of the criminal brain. Specifically, criminals were less lateralized than noncriminals. As the advent of neuroscientific techniques makes more fine-grained inspection of differences in brain structure and function possible, we review criminals' and noncriminals' structural, functional, and behavioural lateralization to evaluate the merits of Lombroso's thesis and investigate the evidence for the biological underpinning of criminal behaviour. Although the body of research is presently small, it appears consistent with Lombroso's proposal: criminal psychopaths' brains show atypical structural asymmetries, with reduced right hemisphere grey and white matter volumes, and abnormal interhemispheric connectivity. Functional asymmetries are also atypical, with criminal psychopaths showing a less lateralized cortical response than noncriminals across verbal, visuo-spatial, and emotional tasks. Finally, the incidence of non-right-handedness is higher in criminal than non-criminal populations, consistent with reduced cortical lateralization. Thus despite Lombroso's comparatively primitive and inferential research methods, his conclusion that criminals' lateralization differs from that of noncriminals is borne out by the neuroscientific research. How atypical cortical asymmetries predispose criminal behaviour remains to be determined.

The majority of atypical cpb2 genes in Clostridium perfringens isolates of different domestic animal origin are expressed.

PubMed

Kircanski, Jasmina; Parreira, Valeria R; Whiteside, Samantha; Pei, Yanlong; Prescott, John F

2012-10-12

This study examined the prevalence and expression of the "consensus" and the "atypical"cpb2 genes in Clostridium perfringens isolates from cattle, chickens, dogs, goats, horses, pigs and sheep using polymerase chain reaction (PCR), sodium dodecyl sulfate-polyacrylamide gel electrophoresis followed by Western blotting. Almost all porcine isolates (12/14) carried and expressed the consensus form of cpb2 but, when present in 108 non-porcine isolates, the gene was usually the atypical form (40 atypical versus 9 consensus). Western blotting showed expression in 30 of 40 (75%) atypical cpb2-positive isolates, considerably more frequently than reported previously. CPB2 was expressed by almost all (20/21) the consensus cpb2-positive isolates, regardless of source. Copyright © 2012 Elsevier B.V. All rights reserved.

Greater Pupil Size in Response to Emotional Faces as an Early Marker of Social-Communicative Difficulties in Infants at High Risk for Autism

PubMed Central

Wagner, Jennifer B.; Luyster, Rhiannon J.; Tager-Flusberg, Helen; Nelson, Charles A.

2016-01-01

When scanning faces, individuals with autism spectrum disorder (ASD) have shown reduced visual attention (e.g., less time on eyes) and atypical autonomic responses (e.g., heightened arousal). To understand how these differences might explain sub-clinical variability in social functioning, 9-month-olds, with or without a family history of ASD, viewed emotionally-expressive faces, and gaze and pupil diameter (a measure of autonomic activation) were recorded using eye-tracking. Infants at high-risk for ASD with no subsequent clinical diagnosis (HRA-) and low-risk controls (LRC) showed similar face scanning and attention to eyes and mouth. Attention was overall greater to eyes than mouth, but this varied as a function of the emotion presented. HRA- showed significantly larger pupil size than LRC. Correlations between scanning at 9 months, pupil size at 9 months, and 18-month social-communicative behavior, revealed positive associations between pupil size and attention to both face and eyes at 9 months in LRC, and a negative association between 9-month pupil size and 18-month social-communicative behavior in HRA-. The present findings point to heightened autonomic arousal in HRA-. Further, with greater arousal relating to worse social-communicative functioning at 18 months, this work points to a mechanism by which unaffected siblings might develop atypical social behavior. PMID:27616938

Greater Pupil Size in Response to Emotional Faces as an Early Marker of Social-Communicative Difficulties in Infants at High Risk for Autism.

PubMed

Wagner, Jennifer B; Luyster, Rhiannon J; Tager-Flusberg, Helen; Nelson, Charles A

2016-01-01

When scanning faces, individuals with autism spectrum disorder (ASD) have shown reduced visual attention (e.g., less time on eyes) and atypical autonomic responses (e.g., heightened arousal). To understand how these differences might explain sub-clinical variability in social functioning, 9-month-olds, with or without a family history of ASD, viewed emotionally-expressive faces, and gaze and pupil diameter (a measure of autonomic activation) were recorded using eye-tracking. Infants at high-risk for ASD with no subsequent clinical diagnosis (HRA-) and low-risk controls (LRC) showed similar face scanning and attention to eyes and mouth. Attention was overall greater to eyes than mouth, but this varied as a function of the emotion presented. HRA- showed significantly larger pupil size than LRC. Correlations between scanning at 9 months, pupil size at 9 months, and 18-month social-communicative behavior, revealed positive associations between pupil size and attention to both face and eyes at 9 months in LRC, and a negative association between 9-month pupil size and 18-month social-communicative behavior in HRA-. The present findings point to heightened autonomic arousal in HRA-. Further, with greater arousal relating to worse social-communicative functioning at 18 months, this work points to a mechanism by which unaffected siblings might develop atypical social behavior.

A 20-year and 46,000-specimen journey to Paris reveals the influence of reporting systems and passive peer feedback on pathologist practice patterns.

PubMed

VandenBussche, Christopher J; Allison, Derek B; Gupta, Mohit; Ali, Syed Z; Rosenthal, Dorothy L

2018-05-14

An important goal of The Paris System for Reporting Urinary Cytology (TPS) is to reduce unnecessary atypical diagnoses given to urinary tract cytology (UTC) specimens. Since implementation of TPS at the study institution in 2016, the institutional atypical rate has declined only slightly. The authors speculated that TPS might not have had an immediate impact because several faculty members were involved in TPS committees and because TPS contains elements that already had been integrated into institutional practice. To identify factors contributing to alterations in the institutional atypical rate, the authors examined their practice over the last 22 years. UTC specimens submitted to the study laboratory between August 11, 1995, and August 10, 2017, were identified. Specimens were linked to the responsible pathologist, specimen diagnosis and type, association with high-grade urothelial carcinoma, and relevant cytomorphologic features. An increase in the institutional atypical rate occurred between 2002 and 2005. The atypical rate among individual pathologists also peaked during this same time. The increase coincided with an increase in the use of UTC and the arrival of a pathologist with a higher rate of atypical diagnoses. A substantial decrease in the institutional atypical rate occurred between 2005 and 2010 and coincided with the creation of the Johns Hopkins Hospital Template, the authors' first standardized reporting system for UTC specimens. The use of reporting systems (Johns Hopkins Hospital Template and TPS) has coincided with decreases in the institutional atypical rate at the study institution. An individual pathologist may influence the practice patterns of his or her colleagues, resulting in fluctuations in the institutional rate of atypia over time. Cancer Cytopathol 2018. © 2018 American Cancer Society. © 2018 American Cancer Society.

Clinical Profile of Atypical Manifestations of Dengue Fever.

PubMed

Pothapregada, Sriram; Kamalakannan, Banupriya; Thulasingam, Mahalakshmy

2016-06-01

To study the clinical profile and outcome of the atypical manifestations of dengue fever in children. All children (0-12 y of age) diagnosed and confirmed as dengue fever at a tertiary care hospital at Puducherry, between the 1st of August 2012 and January 31st 2015 were reviewed retrospectively from hospital case records as per the revised World Health Organization (WHO) guidelines 2011 for dengue fever. The diagnosis was confirmed by NS1 antigen-based ELISA test or dengue serology for IgM and IgG antibodies and the data was analyzed using SPSS 16.0 statistical software. Out of 254 children admitted with dengue fever, non-severe dengue and severe dengue were seen in 62.6 % and 37.4 % respectively. Atypical manifestations were seen in 106 cases (41.7 %). Mean age of presentation was 6.9(3.3) y. M: F ratio was 1.2:1. The common manifestations of severe dengue infection were shock (37.4 %), bleeding (20.1 %) and multi-organ dysfunction (2.4 %). The most common atypical manifestations of dengue fever were lymphadenopathy (41.7 %), splenomegaly (21.2 %), biphasic fever (18.1 %), hepatitis (11.4 %), febrile diarrhea (6.3 %), refractory shock (2.4 %) and impaired consciousness (1.9 %). The other atypical manifestations present were portal hypertension, acalculous cholecystitis, appendicitis, acute respiratory distress syndrome (ARDS), myocarditis, pericardial effusion, paroxysmal supraventricular tachycardia (PSVT), myositis, acute kidney injury (AKI), hemophagocytic syndrome and disseminated intravascular coagulopathy (DIC). Platelet count did not always correlate well with the severity of bleeding. There were six deaths (2.4 %) and out of them four presented with impaired consciousness (66.6 %). The common causes for poor outcome were multiorgan failure, encephalopathy and refractory shock. The atypical manifestations of dengue fever are no more a rare entity. Clinicians should have a high index of suspicion and vigilance for atypical manifestations of dengue fever as lack of timely detection and management could be fatal. Impaired consciousness was the most ominous atypical manifestation of severe dengue infection.

Analysis of the Origin of Atypical Scanning Laser Polarimetry Patterns by Polarization-Sensitive Optical Coherence Tomography

PubMed Central

Götzinger, Erich; Pircher, Michael; Baumann, Bernhard; Hirn, Cornelia; Vass, Clemens; Hitzenberger, Christoph K.

2010-01-01

Purpose To analyze the physical origin of atypical scanning laser polarimetry (SLP) patterns. To compare polarization-sensitive optical coherence tomography (PS-OCT) scans to SLP images. To present a method to obtain pseudo-SLP images by PS-OCT that are free of atypical artifacts. Methods Forty-one eyes of healthy subjects, subjects with suspected glaucoma, and patients with glaucoma were imaged by SLP (GDx VCC) and a prototype spectral domain PS-OCT system. The PS-OCT system acquires three-dimensional (3D) datasets of intensity, retardation, and optic axis orientation simultaneously within 3 seconds. B-scans of intensity and retardation and en face maps of retinal nerve fiber layer (RNFL) retardation were derived from the 3D PS-OCT datasets. Results were compared with those obtained by SLP. Results Twenty-two eyes showed atypical retardation patterns, and 19 eyes showed normal patterns. From the 22 atypical eyes, 15 showed atypical patterns in both imaging modalities, five were atypical only in SLP images, and two were atypical only in PS-OCT images. In most (15 of 22) atypical cases, an increased penetration of the probing beam into the birefringent sclera was identified as the source of atypical patterns. In such cases, the artifacts could be eliminated in PS-OCT images by depth segmentation and exclusion of scleral signals. Conclusions PS-OCT provides deeper insight into the contribution of different fundus layers to SLP images. Increased light penetration into the sclera can distort SLP retardation patterns of the RNFL. PMID:19036999

Atypical presentation of acute and chronic coronary artery disease in diabetics

PubMed Central

Khafaji, Hadi AR Hadi; Suwaidi, Jassim M Al

2014-01-01

In patients with diabetes mellitus, cardiovascular disease is the principal cause of mortality and chest pain is the most frequent symptom in patients with stable and acute coronary artery disease. However, there is little knowledge concerning the pervasiveness of uncommon presentations in diabetics. The symptomatology of acute coronary syndrome, which comprises both pain and non-pain symptoms, may be affected by traditional risk factors such as age, gender, smoking, hypertension, diabetes, and dyslipidemia. Such atypical symptoms may range from silent myocardial ischemia to a wide spectrum of non-chest pain symptoms. Worldwide, few studies have highlighted this under-investigated subject, and this aspect of ischemic heart disease has also been under-evaluated in the major clinical trials. The results of these studies are highly diverse which makes definitive conclusions regarding the spectrum of atypical presentation of acute and even stable chronic coronay artery disease difficult to confirm. This may have a significant impact on the morbidity and mortality of coronary artery disease in diabetics. In this up-to-date review we will try to analyze the most recent studies on the atypical presentations in both acute and chronic ischemic heart disease which may give some emphasis to this under-investigated topic. PMID:25228959

Identification of Patients with RAG Mutations Previously Diagnosed with Common Variable Immunodeficiency Disorders

PubMed Central

Buchbinder, David; Baker, Rebecca; Lee, Yu Nee; Ravell, Juan; Zhang, Yu; McElwee, Joshua; Nugent, Diane; Coonrod, Emily M.; Durtschi, Jacob D.; Augustine, Nancy H.; Voelkerding, Karl V.; Csomos, Krisztian; Rosen, Lindsey; Browne, Sarah; Walter, Jolan E.; Notarangelo, Luigi D.; Hill, Harry R.; Kumánovics, Attila

2015-01-01

Purpose Combined immunodeficiency (CID) presents a unique challenge to clinicians. Two patients presented with the prior clinical diagnosis of common variable immunodeficiency (CVID) disorder marked by an early age of presentation, opportunistic infections, and persistent lymphopenia. Due to the presence of atypical clinical features, next generation sequencing was applied documenting RAG deficiency in both patients. Methods Two different genetic analysis techniques were applied in these patients including whole exome sequencing in one patient and the use of a gene panel designed to target genes known to cause primary immunodeficiency disorders (PIDD) in a second patient. Sanger dideoxy sequencing was used to confirm RAG1 mutations in both patients. Results Two young adults with a history of recurrent bacterial sinopulmonary infections, viral infections, and autoimmune disease as well as progressive hypogammaglobulinemia, abnormal antibody responses, lymphopenia and a prior diagnosis of CVID disorder were evaluated. Compound heterozygous mutations in RAG1 (1) c256_257delAA, p86VfsX32 and (2) c1835A>G, pH612R were documented in one patient. Compound heterozygous mutations in RAG1 (1) c.1566G>T, p.W522C and (2) c.2689C>T, p. R897X) were documented in a second patient post-mortem following a fatal opportunistic infection. Conclusion Astute clinical judgment in the evaluation of patients with PIDD is necessary. Atypical clinical findings such as early onset, granulomatous disease, or opportunistic infections should support the consideration of atypical forms of late onset CID secondary to RAG deficiency. Next generation sequencing approaches provide powerful tools in the investigation of these patients and may expedite definitive treatments. PMID:25516070

Unwrapping the diagnosis of tuberculosis in primary care: a qualitative study.

PubMed

Metcalf, Elizabeth P; Davies, Joanne C; Wood, Fiona; Butler, Christopher C

2007-02-01

Although tuberculosis (TB) is relatively rare in the UK, its diagnosis is important because diagnostic delays can result in worse outcomes for patients and expose others to the risk of infection. Atypical presentations may be common, and patients' help-seeking behaviour may influence the diagnostic process in primary care. Little is known about the process of diagnosing TB in primary care in developed countries. To understand the process of diagnosing TB in UK primary care. Qualitative inductive study with paired semi-structured interviews. Communities and general practices in south-east Wales. Interviews were conducted with 17 patients diagnosed with TB in the previous 6 months and 16 GPs involved with their care. Data were analysed thematically. In response to expected classical features, GPs generally ordered specific tests. Both GPs and patients reported atypical presentations, and then the diagnostic and referral net was appropriately widened in most cases. Identified barriers to prompt diagnosis included atypical presentations and low clinical suspicion of TB, lack of continuity of care, workload demands that limit time with patients, and suboptimal clinician-patient communication. GPs recognised the growing problem of TB nationally and the need for improved education among health professionals. GPs' and patients' accounts about the process of diagnosing TB suggest that delays can occur, although they are not typical. Where diagnosis is clear, GPs generally test specifically and refer appropriately; where diagnosis is less clear, the diagnostic net is cast further. It is only when certain core values of general practice are not applied (including continuity of care, considering context appropriately, and eliciting and responding appropriately to patients' explanatory models) that clinicians and patients identify a suboptimal diagnostic process.

Evolution of an atypical de-epoxidase for photoprotection in the green lineage

PubMed Central

Li, Zhirong; Peers, Graham; Dent, Rachel M.; Bai, Yong; Yang, Scarlett Y.; Apel, Wiebke; Leonelli, Lauriebeth; Niyogi, Krishna K.

2016-01-01

Plants, algae and cyanobacteria need to regulate photosynthetic light harvesting in response to the constantly changing light environment. Rapid adjustments are required to maintain fitness because of a tradeoff between efficient solar energy conversion and photoprotection. The xanthophyll cycle, in which the carotenoid pigment violaxanthin is reversibly converted into zeaxanthin, is ubiquitous among green algae and plants and is necessary for the regulation of light harvesting, protection from oxidative stress, and adaptation to different light conditions1,2. Violaxanthin de-epoxidase (VDE) is the key enzyme responsible for zeaxanthin synthesis from violaxanthin under excess light. Here we show that the CVDE gene from the model green alga Chlamydomonas reinhardtii encodes an atypical VDE. This protein is not homologous to the VDE found in plants and is instead related to a lycopene cyclase from photosynthetic bacteria3. Unlike the plant-type VDE that is located in the thylakoid lumen, the Chlamydomonas CVDE protein is located on the stromal side of the thylakoid membrane. Phylogenetic analysis suggests that CVDE evolved from an ancient de-epoxidase that was present in the common ancestor of green algae and plants, providing evidence of unexpected diversity in photoprotection in the green lineage. PMID:27618685

Evolution of an atypical de-epoxidase for photoprotection in the green lineage.

PubMed

Li, Zhirong; Peers, Graham; Dent, Rachel M; Bai, Yong; Yang, Scarlett Y; Apel, Wiebke; Leonelli, Lauriebeth; Niyogi, Krishna K

2016-09-12

Plants, algae and cyanobacteria need to regulate photosynthetic light harvesting in response to the constantly changing light environment. Rapid adjustments are required to maintain fitness because of a trade-off between efficient solar energy conversion and photoprotection. The xanthophyll cycle, in which the carotenoid pigment violaxanthin is reversibly converted into zeaxanthin, is ubiquitous among green algae and plants and is necessary for the regulation of light harvesting, protection from oxidative stress and adaptation to different light conditions(1,2). Violaxanthin de-epoxidase (VDE) is the key enzyme responsible for zeaxanthin synthesis from violaxanthin under excess light. Here we show that the Chlorophycean VDE (CVDE) gene from the model green alga Chlamydomonas reinhardtii encodes an atypical VDE. This protein is not homologous to the VDE found in plants and is instead related to a lycopene cyclase from photosynthetic bacteria(3). Unlike the plant-type VDE that is located in the thylakoid lumen, the Chlamydomonas CVDE protein is located on the stromal side of the thylakoid membrane. Phylogenetic analysis suggests that CVDE evolved from an ancient de-epoxidase that was present in the common ancestor of green algae and plants, providing evidence of unexpected diversity in photoprotection in the green lineage.

Physiological responses to dyadic interactions are influenced by neurotypical adults' levels of autistic and empathy traits.

PubMed

Truzzi, Anna; Setoh, Peipei; Shinohara, Kazuyuki; Esposito, Gianluca

2016-10-15

Autistic traits are distributed on a continuum that ranges from non-clinical to clinical condition. Atypical responses to social situations represent a core feature of the Autism Spectrum Disorders phenotype. Here, we hypothesize that atypical physiological responses to social stimuli may predict non-clinical autistic and empathy traits levels. We measured physiological responses (heart rate, facial temperature) of 40 adults (20F) while showing them 24 movies representing dyadic interactions. Autistic traits were assessed through Autism Quotient questionnaire (AQ), while empathy traits were measured using the Empathy Quotient questionnaire (EQ). Opposite correlations between AQ and EQ scores and physiological responses were found. Analysis of physiological responses revealed that individuals with better social abilities, low AQ and high EQ, show opposite activation patterns compared to people with high AQ and low EQ. Findings show that physiological responses could be biomarkers for people's autistic traits and social abilities. Copyright © 2016 Elsevier Inc. All rights reserved.

Atypical Rocky Mountain spotted fever with polyarticular arthritis.

PubMed

Chaudhry, Muhammad A; Scofield, Robert Hal

2013-11-01

Rocky Mountain spotted fever (RMSF) is an acute, serious tick borne illness caused by Rickettsia rickettsi. Frequently, RMSF is manifested by headache, a typical rash and fever but atypical disease is common, making diagnosis difficult. Inflammatory arthritis as a manifestation is rare. The purpose of this study is to describe a patient with serologically proven RMSF who presented in an atypical manner with inflammatory arthritis of the small joints of the hands and to review the previously reported patients with rickettsial infection and inflammatory arthritis. An 18-year-old woman presented with a rash that began on the distal extremities and spread centrally, along with hand pain and swelling. She had tenderness and swelling of the metacarpophlangeal joints on examination in addition to an erythematosus macular rash and occasional fever. Acute and convalescent serology demonstrated R rickettsi infection. She was successfully treated with doxycycline. Inflammatory arthritis is a rare manifestation of RMSF or other rickettsial infection with 8 previously reported patients, only 1 of whom had RMSF. Physician must have a high index of suspicion for RMSF because of atypical presentations.

Atypical Rocky Mountain spotted fever with polyarticular arthritis

PubMed Central

Chaudhry, Muhammad A.; Hal Scofield, R.

2017-01-01

Background Rocky Mountain Spotted Fever (RMSF) is an acute, serious tick borne illness caused by Rickettsia rickettsi. Frequently RMSF is manifested by headache, a typical rash and fever but atypical disease is common, making diagnosis difficult. Inflammatory arthritis as a manifestation is rare Purpose Describe a patient with serologically proven RMSF who presented in an atypical manner with inflammatory arthritis of the small joints of the hands, and to review the previously reported patients with rickettsial infection and inflammatory arthritis Patient An 18 year old woman presented with a rash that began on the distal extremities and spread centrally, along with hand pain and swelling. She had tenderness and swelling of the metacarpophlangeal joints on exam as well as an erythematosus macular rash, and occasional fever. Acute and convalescent serology demonstrated Rickettsia rickettsi infection. She was successfully treated with doxycycline. Conclusion Inflammatory arthritis is a rare manifestation of RMSF or other rickettsial infection with eight previously reported patients, only one of whom had RMSF. Physician must have a high index of suspicion for RMSF because of atypical presentations. PMID:24157965

ChoiceKey: a real-time speech recognition program for psychology experiments with a small response set.

PubMed

Donkin, Christopher; Brown, Scott D; Heathcote, Andrew

2009-02-01

Psychological experiments often collect choice responses using buttonpresses. However, spoken responses are useful in many cases-for example, when working with special clinical populations, or when a paradigm demands vocalization, or when accurate response time measurements are desired. In these cases, spoken responses are typically collected using a voice key, which usually involves manual coding by experimenters in a tedious and error-prone manner. We describe ChoiceKey, an open-source speech recognition package for MATLAB. It can be optimized by training for small response sets and different speakers. We show ChoiceKey to be reliable with minimal training for most participants in experiments with two different responses. Problems presented by individual differences, and occasional atypical responses, are examined, and extensions to larger response sets are explored. The ChoiceKey source files and instructions may be downloaded as supplemental materials for this article from brm.psychonomic-journals.org/content/supplemental.

Atypical use of PICC in infants and small children: a unicentric experience.

PubMed

Bernasconi, Filippo; Zanaboni, Clelia; Dato, Andrea; Dolcino, Andrea; Bevilacqua, Michela; Montagnini, Luigi; Disma, Nicola

2017-11-17

The peripherally inserted central catheters (PICCs) are vascular access devices (VAD) that are increasingly being used in the pediatric population. If a small vein caliber prevents positioning the catheter in the arm, the following step is to position the same catheter in the supraclavicular area, which can be defined as an off-label use or "atypical" approach, first described by Pittiruti. We retrospectively reviewed PICC positioning with puncture-site in the supra-clavicular area ("atypical" PICC insertion) and then tunneled on the chest. Nineteen atypical PICCs were positioned in 18 patients. The median age of patients at the day of implant was 14 months (IQR 3-27 months), and weight 7.5 kg (IQR 4-12 kg). Within this population, 74% of cases scheduled for a typical PICC insertion presented vein caliber too small for this procedure. For this reason, the typical PICC insertion was changed in favor of an atypical PICC procedure. Atypical PICCs were successfully used in 100% of cases without immediate complications. Atypical PICC positioning is a safe and useful alternative to the conventional technique when there is need for a central vascular access device (CVAD) for mid- or long-term therapy.

The predictive validity of atypical neurovegetative depressive symptoms identified by the first principal component in the DUAG trial of moclobemide versus clomipramine.

PubMed

Bech, P; Stage, K B; Larsen, J K; Vestergaard, P; Gram, L F

2012-11-01

To investigate to what extent the primary depression subtype atypical depression can predict differential outcome of the mono-amino-oxidase inhibitor (MAO-I) moclobemide and the tricyclic antidepressant clomipramine in the Danish University Antidepressant Group Study (DUAG). In a randomised, double blind trial, a total of 117 patients with major depression were treated over 6 weeks with either 400 mg moclobemide or 150 mg clomipramine. A baseline principal component analysis (PCA) was performed to identify atypical symptoms on the combined depression scales (Hamilton Depression Scale (HAM-D(17)) and the Quantitative Scale for Atypical Depression (QSAD)). The primary outcome scale was the subscale HAM-D(6) which contains the pure items of depression. PCA identified two items with loadings opposite to the other depression items within HAM-D(17) and QSAD, namely increased duration of sleep and increased appetite (atypical neurovegetative symptoms). Patients with a positive score at baseline on these items were classified as having atypical depression. In total 13 patients were classified as having atypical depression. Within this group of patients 8 received clomipramine and 5 patients received moclobemide. At endpoint the moclobemide treated patients had a significantly better response than the clomipramine treated (P=0.036), effect size 1.42, when using HAM-D(6) as outcome. However, in the 104 patients classified as having typical depression clomipramine was superior to moclobemide (P=0.034), effect size 0.47. The number of patients with atypical neurovegetative symptoms was very small and no placebo arm was included. It is very important to screen for atypical depression (increased duration of sleep/increased appetite) in the acute therapy of patients with major depression. Our results add to the body of evidence that monoamine oxidase inhibitors are superior to tricyclic antidepressants in this sub-group of patients. Copyright © 2012 Elsevier B.V. All rights reserved.

Atypical presentations of gastroesophageal reflux disease.

PubMed

Heidelbaugh, Joel J; Gill, Arvin S; Van Harrison, R; Nostrant, Timothy T

2008-08-15

Gastroesophageal reflux disease typically manifests as heartburn and regurgitation, but it may also present with atypical or extraesophageal symptoms, including asthma, chronic cough, laryngitis, hoarseness, chronic sore throat, dental erosions, and noncardiac chest pain. Diagnosing atypical manifestations of gastroesophageal reflux disease is often a challenge because heartburn and regurgitation may be absent, making it difficult to prove a cause-and-effect relationship. Upper endoscopy and 24-hour pH monitoring are insensitive and not useful for many patients as initial diagnostic modalities for evaluation of atypical symptoms. In patients with gastroesophageal reflux disease who have atypical or extraesophageal symptoms, aggressive acid suppression using proton pump inhibitors twice daily before meals for three to four months is the standard treatment, although some studies have failed to show a significant benefit in symptomatic improvement. If these symptoms improve or resolve, patients may step down to a minimal dose of antisecretory therapy over the following three to six months. Surgical intervention via Nissen fundoplication is an option for patients who are unresponsive to aggressive antisecretory therapy. However, long-term studies have shown that some patients still require antisecretory therapy and are more likely to develop dysphagia, rectal flatulence, and the inability to belch or vomit.

Treatment of category generation and retrieval in aphasia: Effect of typicality of category items.

PubMed Central

Kiran, Swathi; Sandberg, Chaleece; Sebastian, Rajani

2011-01-01

Purpose: Kiran and colleagues (Kiran, 2007, 2008; Kiran & Johnson, 2008; Kiran & Thompson, 2003) have previously suggested that training atypical examples within a semantic category is a more efficient treatment approach to facilitating generalization within the category than training typical examples. The present study extended our previous work examining the notion of semantic complexity within goal-derived (ad-hoc) categories in individuals with aphasia. Methods: Six individuals with fluent aphasia (range = 39-84 years) and varying degrees of naming deficits and semantic impairments were involved. Thirty typical and atypical items each from two categories were selected after an extensive stimulus norming task. Generative naming for the two categories was tested during baseline and treatment. Results: As predicted, training atypical examples in the category resulted in generalization to untrained typical examples in five out the five patient-treatment conditions. In contrast, training typical examples (which was in examined three conditions) produced mixed results. One patient showed generalization to untrained atypical examples, whereas two patients did not show generalization to untrained atypical examples. Conclusions: Results of the present study supplement our existing data on the effect of a semantically based treatment for lexical retrieval by manipulating the typicality of category exemplars. PMID:21173393

A-type dimeric epigallocatechin-3-gallate (EGCG) is a more potent inhibitor against the formation of insulin amyloid fibril than EGCG monomer.

PubMed

Nie, Rong-Zu; Zhu, Wei; Peng, Jin-Ming; Ge, Zhen-Zhen; Li, Chun-Mei

2016-06-01

Because fibrillary protein aggregates is regarded to be closely associated with many diseases such as Alzheimer's disease, diabetes, and Parkinson's disease, growing interest and researches have been focused on finding potential fibrillation inhibitors. In the present study, the inhibitory effects of epigallocatechin-3-gallate (EGCG) and A-type dimeric epigallocatechin-3-gallate (A-type EGCG dimer) on the formation of insulin fibrillation were compared by multi-dimensional approaches including thioflavin-T (ThT) fluorescence assay, 1-anilinonaphthalene-8-sulfonic (ANS) fluorescence assay, dynamic light scattering (DLS), transmission electron microscopy (TEM), Fourier transform infrared (FTIR) spectroscopy and circular dichroism (CD) spectroscopy. Our results confirmed that A-type EGCG dimer is a more potent inhibitor against the formation of bovine insulin amyloid fibril than EGCG. In addition, A-type EGCG dimer could not only inhibit insulin amyloid fibril formation, but also change the aggregation pathway and induce bovine insulin into amorphous aggregates. The results of the present study may provide a new guide on finding novel anti-amyloidogenic agents. Copyright © 2016 Elsevier B.V. and Société française de biochimie et biologie Moléculaire (SFBBM). All rights reserved.

Atypical preeclampsia – Gestational proteinuria

PubMed Central

Stevens, Amy B.; Brasuell, Diane M.; Higdon, Rebecca N.

2017-01-01

There are many rural areas where obstetric care is predominately performed by family medicine physicians. As such, it is important for family medicine physicians to stay up to date with the latest obstetric guidelines. Preeclampsia is a well-established disorder and the guidelines for screening and treatment are well known. However, atypical presentations of preeclampsia have been less studied. Notably, what constitutes atypical preeclampsia and when to be concerned for increased morbidity and mortality in the mother and neonate. This report describes a unique case in which a woman with proteinuria of pregnancy developed atypical preeclampsia with severe features. This report discusses the care that was given by a practicing family medicine physician and the reasoning behind it. PMID:29417031

Atypical lymphocytosis in leptospirosis: a cohort of hospitalized cases between 1996 and 2009 in State of Rio de Janeiro, Brazil.

PubMed

Damasco, Paulo Vieira; Avila, Carlos André Lins; Barbosa, Angélica Tápia; Ribeiro Carvalho, Marilza de Moura; Pereira, Geraldo Moura Batista; Lemos, Elba Regina Sampaio de; Bóia, Márcio Neves; Pereira, Martha Maria

2011-10-01

Leptospirosis is a zoonotic disease found in tropical and temperate countries, and its clinical diagnostic confusion with arboviruses (dengue fever, oropouche fever and yellow fever), Brazilian spotted fever, viral hepatitis and hantaviruses has been an ongoing public health concern. The aim of this observational study was to demonstrate an association between findings of atypical lymphocytosis and the progression of endemic leptospirosis. A retrospective analysis was performed on the demographic, epidemiological, clinical and laboratory aspects of 27 human leptospirosis cases that occurred over a period of 13 years (1996-2009) with no reported epidemic outbreaks in Rio de Janeiro, Brazil. The overall mortality rate was 11.1% in our cohort of hospitalized cases. However, there was no mortality among patients with atypical lymphocytosis (OR = 11.1; 95% CI = 1.12-110.9; p = 0.04). Two patients who were in the septicemic phase showed signs of expansion of γδ T cell responses in peripheral blood. Atypical lymphocytosis may be observed in patients with leptospirosis. Our observations suggest that these atypical leukocyte subsets are associated with partial protection during the disease course of leptospirosis.

Catalyzing Genetic Thinking in Undergraduate Mathematics Education

ERIC Educational Resources Information Center

King, Samuel Olugbenga

2016-01-01

In undergraduate mathematics education, atypical problem solving approaches are usually discouraged because they are not adaptive to systematic deduction on which undergraduate instructional systems are predicated. I present preliminary qualitative research evidence that indicates that these atypical approaches, such as genetic guessing, which…

Steroid-responsive polyradiculopathy in association with focal segmental glomerulosclerosis

PubMed Central

Chapman, Andrew R.; Gamble, Paul; Pollock, Anne Marie; Joss, Nicola

2013-01-01

An 80-year-old woman presented with simultaneous increasing muscle weakness and nephrotic syndrome. A renal biopsy confirmed focal segmental glomerulosclerosis (FSGS). Her neurological diagnosis best fitted with a Guillain–Barre-like syndrome. There have been several cases of FSGS in combination with both conventional and atypical Guillain–Barre syndrome (GBS). Our patient was treated with high-dose steroids and resolution of both nephrotic syndrome and neurological symptoms occurred over 6 months. This article reviews all previously published presentations of this nature and discusses putative mechanisms for the development of concurrent FSGS and GBS. PMID:26069832

Atypical presentations of methemoglobinemia from benzocaine spray.

PubMed

Tantisattamo, Ekamol; Suwantarat, Nuntra; Vierra, Joseph R; Evans, Samuel J

2011-06-01

Widely used for local anesthesia, especially prior to endoscopic procedures, benzocaine spray is one of the most common causes of iatrogenic methemoglobinemia. The authors report an atypical case of methemoglobinemia in a woman presenting with pale skin and severe hypoxemia, after a delayed repeat exposure to benzocaine spray. Early recognition and prompt management of methemoglobinemia is needed in order to lessen morbidity and mortality from this entity.

Atypical memory B cells are greatly expanded in individuals living in a malaria-endemic area1

PubMed Central

Weiss, Greta E; Crompton, Peter D.; Li, Shanping; Walsh, Laura A.; Moir, Susan; Traore, Boubacar; Kayentao, Kassoum; Ongoiba, Aissata; Doumbo, Ogobara K.; Pierce, Susan K.

2009-01-01

Epidemiological observations in malaria endemic areas have long suggested a deficiency in the generation and maintenance of B cell memory to Plasmodium falciparum (Pf) in individuals chronically reinfected with the parasite. Recently, a functionally and phenotypically distinct population of FCRL4+ hypo-responsive memory B cells (MBCs) was reported to be expanded in HIV-infected individuals with high viral loads. Here we provide evidence that a phenotypically similar atypical MBC population is significantly expanded in Pf-exposed Malian adults and children as young as two years of age as compared to healthy U.S. adult controls. The number of these atypical MBCs was higher in children with chronic asymptomatic Pf infections compared to uninfected children suggesting that the chronic presence of the parasite may drive expansion of these distinct MBCs. This is the first description of an atypical MBC phenotype associated with malaria. Understanding the origin and function of these MBCs could be important in informing the design of malaria vaccines. PMID:19592645

Synthesis and Evaluation of Antimicrobial and Antibiofilm Properties of A-Type Procyanidin Analogues against Resistant Bacteria in Food.

PubMed

Alejo-Armijo, Alfonso; Glibota, Nicolás; Frías, María P; Altarejos, Joaquín; Gálvez, Antonio; Salido, Sofía; Ortega-Morente, Elena

2018-03-07

Natural A-type procyanidins have shown very interesting biological activities, such as their proven antiadherence properties against pathogenic bacteria. In order to find the structural features responsible for their activities, we describe herein the design and synthesis of six A-type procyanidin analogues and the evaluation of their antimicrobial and antibiofilm properties against 12 resistant bacteria, both Gram positive and Gram negative, isolated from organic foods. The natural A-type procyanidin A-2, which had known antiadherence activity, was also tested as a reference compound for the comparative studies. Within the series, analogue 4, which had a NO 2 group on ring A, showed the highest antimicrobial activity (MIC of 10 μg/mL) and was one of the best molecules at preventing biofilm formation (up to 40% decreases at 100 μg/mL) and disrupting preformed biofilms (up to 40% reductions at 0.1 μg/mL). Structure-activity relationships are also analyzed.

A novel examination of atypical major depressive disorder based on attachment theory.

PubMed

Levitan, Robert D; Atkinson, Leslie; Pedersen, Rebecca; Buis, Tom; Kennedy, Sidney H; Chopra, Kevin; Leung, Eman M; Segal, Zindel V

2009-06-01

While a large body of descriptive work has thoroughly investigated the clinical correlates of atypical depression, little is known about its fundamental origins. This study examined atypical depression from an attachment theory framework. Our hypothesis was that, compared to adults with melancholic depression, those with atypical depression would report more anxious-ambivalent attachment and less secure attachment. As gender has been an important consideration in prior work on atypical depression, this same hypothesis was further tested in female subjects only. One hundred ninety-nine consecutive adults presenting to a tertiary mood disorders clinic with major depressive disorder with either atypical or melancholic features according to the Structured Clinical Interview for DSM-IV Axis-I Disorders were administered a self-report adult attachment questionnaire to assess the core dimensions of secure, anxious-ambivalent, and avoidant attachment. Attachment scores were compared across the 2 depressed groups defined by atypical and melancholic features using multivariate analysis of variance. The study was conducted between 1999 and 2004. When men and women were considered together, the multivariate test comparing attachment scores by depressive group was statistically significant at p < .05. Between-subjects testing indicated that atypical depression was associated with significantly lower secure attachment scores, with a trend toward higher anxious-ambivalent attachment scores, than was melancholia. When women were analyzed separately, the multivariate test was statistically significant at p < .01, with both secure and anxious-ambivalent attachment scores differing significantly across depressive groups. These preliminary findings suggest that attachment theory, and insecure and anxious-ambivalent attachment in particular, may be a useful framework from which to study the origins, clinical correlates, and treatment of atypical depression. Gender may be an important consideration when considering atypical depression from an attachment perspective. Copyright 2009 Physicians Postgraduate Press, Inc.

From appearance to essence: 10 years review of atypical amniotic fluid embolism.

PubMed

Shen, Fangrong; Wang, Lu; Yang, Weiwen; Chen, Youguo

2016-02-01

Amniotic fluid embolism (AFE) is an unpredictable and unpreventable complication of maternity. The presentation may range from relatively subtle clinical events to sudden maternal cardiac arrest. However, the neglected diagnosis of non-classical form of AFE (atypical AFE) is very common. The aim of this study was to examine population-based regional data from Suzhou, China. Based on the analysis of all available case reports, we put forward an outline of atypical AFE and investigate whether any variation identified could be ascribed to methodology. Retrospective study from January 2004 to December 2013, 53 cases was identified from the database of Center for Disease Control (CDC) in the city of Suzhou. We investigated the presentations of atypical AFE and maternal characteristics with potential factors underlying AFE. Multiple-regression analysis was used to calculate adjusted odds ratios (ORs) and 95 % confidence intervals (CIs). The incidence of AFE was 6.91 per 100,000 deliveries (53/766,895). Seventeen deaths occurred, a mortality rate of 32 %. Atypical AFE may as the earlier stage or mild form of AFE, there was no death case in the study with timely remedy. The atypical AFE appear is obstetric hemorrhage and/or pulmonary and renal dysfunction postpartum. Hyperfibrinolysis and coagulopathy may the early laboratory findings of atypical AFE. Atypical and classical AFE shared the same risks, such as advanced maternal age, placental abnormalities, operative deliveries, eclampsia, cervical lacerations, and induction of labor. Staying alert to premonitory symptoms of AFE is critical to turn it to a remediable disease. Patient complaints such as breathlessness, chest pain, feeling cold, distress, panic, a feeling of nausea, and vomiting should elicit close attention. The management of a suspected episode of amniotic fluid embolism is generally considered to be supportive. Hysterectomy must be performed if there is further progression of symptoms. Due to advances in acute care, mortality has decreased in recent years, highlighting the importance of early detection and treatment.

[Lupus enteritis as initial manifestation of systemic lupus erythematosus. Report of one case].

PubMed

Barrera O, Manuel; Barrera M, Rodrigo; de la Rivera V, Matías; Vela U, Javier; Mönckeberg F, Gustavo

2017-10-01

Although gastrointestinal symptoms are not rare in Systemic lupus erythematosus, enteritis is an atypical manifestation of the disease. We report a 54 year-old woman who presented acute symptoms of diarrhea, fever and abdominal pain, receiving empiric antibiotic therapy for bacterial enteritis with no response. Computed tomography showed diffuse small intestine inflammation and serositis. Antinuclear antibodies, anti-Ro and anti-La were positive on blood tests. A lupic enteropathy was diagnosed and steroid treatment was initiated, with subsequent clinical improvement.

Bone density, body composition, and psychopathology of anorexia nervosa spectrum disorders in DSM-IV vs DSM-5

PubMed Central

Schorr, Melanie; Thomas, Jennifer J.; Eddy, Kamryn T.; Dichtel, Laura E.; Lawson, Elizabeth A.; Meenaghan, Erinne; Paskal, Margaret Lederfine; Fazeli, Pouneh K.; Faje, Alexander T.; Misra, Madhusmita; Klibanski, Anne; Miller, Karen K.

2016-01-01

Objective DSM-5 revised diagnostic criteria for anorexia nervosa (AN) by eliminating the amenorrhea requirement, liberalizing weight and psychological criteria, and adding the formal diagnosis of “atypical AN” for individuals with AN psychological symptoms without low weight. We sought to determine whether bone density (BMD) is impaired in women diagnosed with AN using the new, more liberal DSM-5 criteria. Method Cross-sectional study of 168 women, 18–45y: 1) AN by DSM-IV (DSM-IV)(n=37), 2) AN by DSM-5 but not DSM-IV criteria (DSM-5)(n=33), 3) atypical AN (ATYPICAL)(n=77), 4) healthy comparison group (HC)(n=21). Measurements included dual energy x-ray absorptiometry, Eating Disorder Examination-Questionnaire, Eating Disorder Inventory-2, Hamilton Depression and Anxiety Rating Scales. Results BMD Z-score <−1.0 was present in 78% of DSM-IV, 82% of DSM-5, and 69% of ATYPICAL. Mean Z-scores were comparably low in DSM-IV and DSM-5, intermediate in ATYPICAL, and highest in HC. Lack of prior low weight or amenorrhea was, but history of overweight/obesity was not, protective against bone loss. Mean lean mass and percent fat mass were significantly lower in all AN groups than HC. DSM-IV, DSM-5 and ATYPICAL had comparable psychopathology. Discussion Despite liberalizing diagnostic criteria, many women diagnosed with AN and atypical AN using DSM-5 criteria have low BMD. Presence or history of low weight and/or amenorrhea remain important indications for DXA. Loss of lean mass, in addition to fat mass, is present in all AN groups, and may contribute to low BMD. The deleterious effect of eating disorders on BMD extends beyond those with current low weight and amenorrhea. PMID:27527115

The effects of a culturally gender-specifying peripheral cue (headscarf) on the categorization of faces by gender.

PubMed

Megreya, Ahmed M

2015-06-01

Faces convey a wealth of cues that influence social categorizations and subsequent cognition and behavior. This study examined the effects of wearing a headscarf on face categorization by gender using Egyptian observers who have an extensive exposure with headscarf-framed female faces. A typical headscarf (worn by females) enhanced perceived femininity whereas an atypical headscarf (worn by males) reduced perceived masculinity. Regardless of whether the faces were presented briefly, or until participants responded, the typical headscarf had no effect on categorizing female faces but the atypical headscarf greatly slowed down categorizing male faces. However, a typical headscarf advantage was noticed when the atypical headscarf condition was removed. In addition, both typical and atypical headscarf effects were greatly strengthened when faces were presented as negatives. These data provide support to the dynamic continuity account of social categorization that suggests a competition among multiple simultaneous representations until a construal is stabilized. Copyright © 2015 Elsevier B.V. All rights reserved.

Elevated rates of atypical handedness in paedophilia: Theory and implications

PubMed Central

Fazio, Rachel L.; Lykins, Amy D.; Cantor, James M.

2014-01-01

Multiple factors determine handedness including genetics, prenatal stress and post-natal environmental conditions. Atypical handedness, whether manifest as increased sinistrality or decreased strength of lateral preference, has been noted in a wide variety of populations with neuropathology. Those with atypical sexual preferences, specifically paedophilia, also manifest reduced rates of right-handedness. This paper uses the largest sample of phallometrically assessed men to date to establish the pattern of atypical handedness in paedophilia. Specifically, whereas prior research has largely characterized participants dichotomously as right-handed or non-right-handed and/or used self-report of writing hand, this paper expands upon such reports by using the Edinburgh Handedness Inventory's laterality quotient. Participants' handedness and phallometrically assessed sexual preference were analyzed both as continuous and categorical variables, and the responses of those scoring in the range of ambiguous-handedness were evaluated to ascertain whether they were ambiguously handed or more accurately described as mixed-handed. Results indicated those producing scores in the range of ambiguous-handedness demonstrated response patterns consistent with ambiguous-handedness, rather than mixed-handedness. Paedophiles demonstrated high rates of non-right-handedness primarily manifested as sinistrality, whereas those who had a sexual preference for pubescent children evidenced increased ambiguous-handedness. Results support a view of ambiguous-handedness as less pathological than previously hypothesized, and of a neurodevelopmental origin of paraphilic sexual preferences. PMID:24666135

Atypical antipsychotic medications to control symptoms of delirium in children and adolescents.

PubMed

Turkel, Susan Beckwitt; Jacobson, Julienne; Munzig, Elizabeth; Tavaré, C Jane

2012-04-01

Atypical antipsychotics have been documented to be effective in the management of delirium in adults, but despite considerable need, their use has been less studied in pediatric patients. A retrospective chart review was done to describe the use of atypical antipsychotics in controlling symptoms of delirium in children and adolescents. Pharmacy records at Children's Hospital Los Angeles were reviewed to identify patients to whom antipsychotic agents were dispensed over a 24-month period. Psychiatric inpatient consultations during the same 24-month period were reviewed. Patients 1-18 years old diagnosed with delirium given antipsychotics constituted the study population. Delirium Rating Scale-Revised-98 (DRS-R98) scores were retrospectively calculated, when possible, at time antipsychotic was started to confirm the initial diagnosis of delirium and evaluate symptom severity, and again when antipsychotic was stopped, to assess symptom response. Olanzapine (n=78), risperidone (n=13), and quetiapine (n=19) were used during the 2 years of the study. Mean patient age, length of treatment, and response were comparable for the three medications. For patients with two DRS-R98 scores available (n=75/110), mean DRS-R98 scores decreased significantly (p<0.001) with antipsychotic without significant adverse side effects. Although randomized placebo-controlled studies are needed, atypical antipsychotic medications appeared to be effective and safe for managing delirium symptoms in pediatric patients while underlying etiology was addressed.

Elevated rates of atypical handedness in paedophilia: theory and implications.

PubMed

Fazio, Rachel L; Lykins, Amy D; Cantor, James M

2014-01-01

Multiple factors determine handedness including genetics, prenatal stress and post-natal environmental conditions. Atypical handedness, whether manifest as increased sinistrality or decreased strength of lateral preference, has been noted in a wide variety of populations with neuropathology. Those with atypical sexual preferences, specifically paedophilia, also manifest reduced rates of right-handedness. This paper uses the largest sample of phallometrically assessed men to date to establish the pattern of atypical handedness in paedophilia. Specifically, whereas prior research has largely characterized participants dichotomously as right-handed or non-right-handed and/or used self-report of writing hand, this paper expands upon such reports by using the Edinburgh Handedness Inventory's laterality quotient. Participants' handedness and phallometrically assessed sexual preference were analyzed both as continuous and categorical variables, and the responses of those scoring in the range of ambiguous-handedness were evaluated to ascertain whether they were ambiguously handed or more accurately described as mixed-handed. Results indicated those producing scores in the range of ambiguous-handedness demonstrated response patterns consistent with ambiguous-handedness, rather than mixed-handedness. Paedophiles demonstrated high rates of non-right-handedness primarily manifested as sinistrality, whereas those who had a sexual preference for pubescent children evidenced increased ambiguous-handedness. Results support a view of ambiguous-handedness as less pathological than previously hypothesized, and of a neurodevelopmental origin of paraphilic sexual preferences.

Detection of hypoglycin A in the seeds of sycamore (Acer pseudoplatanus) and box elder (A. negundo) in New Zealand; the toxin associated with cases of equine atypical myopathy.

PubMed

McKenzie, R K; Hill, F I; Habyarimana, J A; Boemer, F; Votion, D M

2016-05-01

During April and May 2014 four horses aged between 5 months and 9 years, located in the Canterbury, Marlborough and Southland regions, presented with a variety of clinical signs including recumbency, stiffness, lethargy, dehydration, depression, and myoglobinuria suggestive of acute muscle damage. Two horses were subjected to euthanasia and two recovered. In all cases seeds of sycamore maple (Acer pseudoplatanus) or box elder (A. negundo) were present in the area where the horse had been grazing. The samaras (seeds) of some Acer spp. may contain hypoglycin A, that has been associated with cases of atypical myopathy in Europe and North America. To determine if hypoglycin A is present in the samaras of Acer spp. in New Zealand, samples were collected from trees throughout the country that were associated with historical and/or current cases of atypical myopathy, and analysed for hypoglycin A. Serum samples from the four cases and four unaffected horses were analysed for the presence of hypoglycin A, profiles of acylcarnitines (the definitive diagnosis for atypical myopathy) and activities of creatine kinase and aspartate aminotransferase.Markedly elevated serum activities of creatine kinase and aspartate aminotransferase, and increased concentrations of selected acylcarnitines were found in the case horses. Hypoglycin A was detected in the serum of those horses but not in the healthy controls. Hypoglycin A was detected in 10/15 samples of samaras from sycamore maple and box elder from throughout New Zealand. Cases of atypical myopathy were diagnosed on properties where samaras containing hypoglycin A were also found. Sycamore and box elder trees in New Zealand are a source of hypoglycin A associated with the development of atypical myopathy. If pastured horses present with clinical and biochemical signs of severe muscle damage then the environment should be checked for the presence of these trees. Horses should be prevented from grazing samaras from Acer spp. in the autumn.

Prediction of outcome of bright light treatment in patients with seasonal affective disorder: Discarding the early response, confirming a higher atypical balance, and uncovering a higher body mass index at baseline as predictors of endpoint outcome.

PubMed

Dimitrova, Tzvetelina D; Reeves, Gloria M; Snitker, Soren; Lapidus, Manana; Sleemi, Aamar R; Balis, Theodora G; Manalai, Partam; Tariq, Muhammad M; Cabassa, Johanna A; Karim, Naila N; Johnson, Mary A; Langenberg, Patricia; Rohan, Kelly J; Miller, Michael; Stiller, John W; Postolache, Teodor T

2017-11-01

We tested the hypothesis that the early improvement in mood after the first hour of bright light treatment compared to control dim-red light would predict the outcome at six weeks of bright light treatment for depressed mood in patients with Seasonal Affective Disorder (SAD). We also analyzed the value of Body Mass Index (BMI) and atypical symptoms of depression at baseline in predicting treatment outcome. Seventy-eight adult participants were enrolled. The first treatment was controlled crossover, with randomized order, and included one hour of active bright light treatment and one hour of control dim-red light, with one-hour washout. Depression was measured on the Structured Interview Guide for the Hamilton Rating Scale for Depression-SAD version (SIGH-SAD). The predictive association of depression scores changes after the first session. BMI and atypical score balance with treatment outcomes at endpoint were assessed using multivariable linear and logistic regressions. No significant prediction by changes in depression scores after the first session was found. However, higher atypical balance scores and BMI positively predicted treatment outcome. Absence of a control intervention for the six-weeks of treatment (only the first session in the laboratory was controlled). Exclusion of patients with comorbid substance abuse, suicidality and bipolar I disorder, and patients on antidepressant medications, reducing the generalizability of the study. Prediction of outcome by early response to light treatment was not replicated, and the previously reported prediction of baseline atypical balance was confirmed. BMI, a parameter routinely calculated in primary care, was identified as a novel predictor, and calls for replication and then exploration of possible mediating mechanisms. Published by Elsevier B.V.

Neural Language Processing in Adolescent First-Language Learners: Longitudinal Case Studies in American Sign Language.

PubMed

Ferjan Ramirez, Naja; Leonard, Matthew K; Davenport, Tristan S; Torres, Christina; Halgren, Eric; Mayberry, Rachel I

2016-03-01

One key question in neurolinguistics is the extent to which the neural processing system for language requires linguistic experience during early life to develop fully. We conducted a longitudinal anatomically constrained magnetoencephalography (aMEG) analysis of lexico-semantic processing in 2 deaf adolescents who had no sustained language input until 14 years of age, when they became fully immersed in American Sign Language. After 2 to 3 years of language, the adolescents' neural responses to signed words were highly atypical, localizing mainly to right dorsal frontoparietal regions and often responding more strongly to semantically primed words (Ferjan Ramirez N, Leonard MK, Torres C, Hatrak M, Halgren E, Mayberry RI. 2014. Neural language processing in adolescent first-language learners. Cereb Cortex. 24 (10): 2772-2783). Here, we show that after an additional 15 months of language experience, the adolescents' neural responses remained atypical in terms of polarity. While their responses to less familiar signed words still showed atypical localization patterns, the localization of responses to highly familiar signed words became more concentrated in the left perisylvian language network. Our findings suggest that the timing of language experience affects the organization of neural language processing; however, even in adolescence, language representation in the human brain continues to evolve with experience. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Unusual cardiac paraganglioma mimicking an atypical carcinoid tumor of the lung

PubMed Central

Evans, Mark; Wang, Beverly; Delrosario, J. Lawrence; Cheng, Timmy; Milliken, Jeffrey

2018-01-01

We present a case of unusual cardiac paraganglioma (PG) initially misdiagnosed as atypical carcinoid tumor of the lung and discuss key clinical and pathologic characteristics that guide surgical management of these rare chromaffin cell tumors. A 64-year-old female with persistent cough and back pain was found to have a 4 cm × 3 cm mass abutting multiple cardiopulmonary structures. A biopsy was performed at an outside institution and pathology reported “atypical neuroendocrine carcinoma, consistent with carcinoid”. The patient was transferred to our institution and pericardial resection with right pneumonectomy was performed to excise the tumor. Histology of the mass was that of PG with multiple ethanol embolizations. Immunohistochemical examination revealed that type I (chief) cells were positive for neuroendocrine markers (chromogranin A and synaptophysin), while type II (sustentacular) cells were positive for S100. There was no evidence of atypical carcinoid tumor in the lung. PG is an entity of chromaffin cell tumors that often affects the adrenal glands and carotid body. PG rarely occurs in the thoracic region, accounting for just 1–2% of all PG. Proper diagnosis of cardiac PG is challenging owing to its rare prevalence, subtle symptoms of presentation, and the neuroendocrine histopathological features it shares with atypical carcinoids. These tumors are typically benign and are best treated by surgical resection. Our report examines the approach to appropriate diagnosis of cardiac PG vs. atypical carcinoid, preoperative management, and surgical treatment by describing successful resection through thoracotomy without the use of cardiopulmonary bypass. PMID:29600100

Tracing the associations between sex, the atypical and the combined atypical-melancholic depression subtypes: A path analysis.

PubMed

Rodgers, Stephanie; Vandeleur, Caroline L; Ajdacic-Gross, Vladeta; Aleksandrowicz, Aleksandra A; Strippoli, Marie-Pierre F; Castelao, Enrique; Glaus, Jennifer; Lasserre, Aurélie M; Müller, Mario; Rössler, Wulf; Angst, Jules; Preisig, Martin

2016-01-15

Numerous studies have examined determinants leading to preponderance of women in major depressive disorder (MDD), which is particularly accentuated for the atypical depression subtype. It is thus of interest to explore the specific indirect effects influencing the association between sex and established depression subtypes. The data of 1624 subjects with a lifetime diagnosis of MDD derived from the population-based PsyCoLaus data were used. An atypical (n=256), a melancholic (n=422), a combined atypical and melancholic features subtype (n=198), and an unspecified MDD group (n=748) were constructed according to the DSM-IV specifiers. Path models with direct and indirect effects were applied to the data. Partial mediation of the female-related atypical and combined atypical-melancholic depression subtypes was found. Early anxiety disorders and high emotion-orientated coping acted as mediating variables between sex and the atypical depression subtype. In contrast, high Body Mass Index (BMI) served as a suppression variable, also concerning the association between sex and the combined atypical-melancholic subtype. The latter association was additionally mediated by an early age of MDD onset and early/late anxiety disorders. The use of cross-sectional data does not allow causal conclusions. This is the first study that provides evidence for a differentiation of the general mechanisms explaining sex differences of overall MDD by depression subtypes. Determinants affecting the pathways begin early in life. Since some of them are primarily of behavioral nature, the present findings could be a valuable target in mental health care. Copyright © 2015 Elsevier B.V. All rights reserved.

Possible mechanism for inhibition of morphine formation from 6-acetylmorphine after intake of street heroin.

PubMed

Andersson, Maria; Björkhem-Bergman, Linda; Beck, Olof

2015-07-01

Heroin is de-acetylated in the body to morphine in two steps. The intermediate 6-acetylmorphine (6-AM) is formed rapidly and is considered important for the pharmacological effect of heroin. In urine drug testing, an atypical pattern of morphine and 6-AM is known to occur in low frequency. The aim of this study was to investigate this atypical pattern in more detail and to identify responsible substances for a possible inhibition of the conversion from 6-AM to morphine. Urine samples were selected from a routine flow of samples sent for drug testing. Out of 695 samples containing morphine and 6-acetylmorphine, 11.5% had the atypical pattern of a 6-AM to morphine ratio above 0.26 as derived from a bimodal frequency distribution. An in vitro study of the conversion of 6-acetylmorphine to morphine in human liver homogenates demonstrated that a number of known carboxylesterase inhibitors were able to inhibit the reaction mimicking the situation in vivo. Compound 3 (3,6-Dimethoxy-4-acetoxy-5-[2-(N-methylacetamido)ethyl]phenanthrene) a substance formed from thebaine during the production of heroin was found to be a strong inhibitor. Liquid chromatography-mass spectrometry was used to identify possible inhibitors present in vivo. This part of the investigation demonstrated that several components may contribute to the effect. It is concluded that inhibition of liver carboxylesterase activity is a possible mechanism causing the atypical pattern and that one candidate compound is the result of the heroin production process. An inhibition of 6-AM metabolism is likely to increase the pharmacological effect of heroin and may be related to a higher risk of lethal toxicity. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Distinct cellular distributions of Kv4 pore-forming and auxiliary subunits in rat dorsal root ganglion neurons.

PubMed

Matsuyoshi, Hiroko; Takimoto, Koichi; Yunoki, Takakazu; Erickson, Vickie L; Tyagi, Pradeep; Hirao, Yoshihiko; Wanaka, Akio; Yoshimura, Naoki

2012-09-17

Dorsal root ganglia contain heterogeneous populations of primary afferent neurons that transmit various sensory stimuli. This functional diversity may be correlated with differential expression of voltage-gated K(+) (Kv) channels. Here, we examine cellular distributions of Kv4 pore-forming and ancillary subunits that are responsible for fast-inactivating A-type K(+) current. Expression pattern of Kv α-subunit, β-subunit and auxiliary subunit was investigated using immunohistochemistry, in situ hybridization and RT-PCR technique. The two pore-forming subunits Kv4.1 and Kv4.3 show distinct cellular distributions: Kv4.3 is predominantly in small-sized C-fiber neurons, whereas Kv4.1 is seen in DRG neurons in various sizes. Furthermore, the two classes of Kv4 channel auxiliary subunits are also distributed in different-sized cells. KChIP3 is the only significantly expressed Ca(2+)-binding cytosolic ancillary subunit in DRGs and present in medium to large-sized neurons. The membrane-spanning auxiliary subunit DPP6 is seen in a large number of DRG neurons in various sizes, whereas DPP10 is restricted in small-sized neurons. Distinct combinations of Kv4 pore-forming and auxiliary subunits may constitute A-type channels in DRG neurons with different physiological roles. Kv4.1 subunit, in combination with KChIP3 and/or DPP6, form A-type K(+) channels in medium to large-sized A-fiber DRG neurons. In contrast, Kv4.3 and DPP10 may contribute to A-type K(+) current in non-peptidergic, C-fiber somatic afferent neurons. Copyright © 2012 Elsevier Inc. All rights reserved.

Brief Report: Chimpanzee Social Responsiveness Scale (CSRS) Detects Individual Variation in Social Responsiveness for Captive Chimpanzees

ERIC Educational Resources Information Center

Faughn, Carley; Marrus, Natasha; Shuman, Jeremy; Ross, Stephen R.; Constantino, John N.; Pruett, John R., Jr.; Povinelli, Daniel J.

2015-01-01

Comparative studies of social responsiveness, a core impairment in autism spectrum disorder (ASD), will enhance our understanding of typical and atypical social behavior. We previously reported a quantitative, cross-species (human-chimpanzee) social responsiveness measure, which included the development of the Chimpanzee Social Responsiveness…

Atypical Gifted Learners and Their Characteristics.

ERIC Educational Resources Information Center

Diket, Read M., Ed.; Abel, Trudy, Ed.

This collection of 12 handouts focuses on different categories of atypical gifted learners and their characteristics. The handouts are generally two pages long and present a summary of the literature on the topic, some practical teaching suggestions, and references. The handouts include: (1) "Socioeconomically Disadvantaged Gifted Students" (Pam…

Atypical Presentations of Methemoglobinemia from Benzocaine Spray

PubMed Central

Suwantarat, Nuntra; Vierra, Joseph R; Evans, Samuel J

2011-01-01

Widely used for local anesthesia, especially prior to endoscopic procedures, benzocaine spray is one of the most common causes of iatrogenic methemoglobinemia. The authors report an atypical case of methemoglobinemia in a woman presenting with pale skin and severe hypoxemia, after a delayed repeat exposure to benzocaine spray. Early recognition and prompt management of methemoglobinemia is needed in order to lessen morbidity and mortality from this entity. PMID:22162610

Neural mechanisms of negative reinforcement in children and adolescents with autism spectrum disorders.

PubMed

Damiano, Cara R; Cockrell, Dillon C; Dunlap, Kaitlyn; Hanna, Eleanor K; Miller, Stephanie; Bizzell, Joshua; Kovac, Megan; Turner-Brown, Lauren; Sideris, John; Kinard, Jessica; Dichter, Gabriel S

2015-01-01

Previous research has found accumulating evidence for atypical reward processing in autism spectrum disorders (ASD), particularly in the context of social rewards. Yet, this line of research has focused largely on positive social reinforcement, while little is known about the processing of negative reinforcement in individuals with ASD. The present study examined neural responses to social negative reinforcement (a face displaying negative affect) and non-social negative reinforcement (monetary loss) in children with ASD relative to typically developing children, using functional magnetic resonance imaging (fMRI). We found that children with ASD demonstrated hypoactivation of the right caudate nucleus while anticipating non-social negative reinforcement and hypoactivation of a network of frontostriatal regions (including the nucleus accumbens, caudate nucleus, and putamen) while anticipating social negative reinforcement. In addition, activation of the right caudate nucleus during non-social negative reinforcement was associated with individual differences in social motivation. These results suggest that atypical responding to negative reinforcement in children with ASD may contribute to social motivational deficits in this population.

Magnetic response of a disordered binary ferromagnetic alloy to an oscillating magnetic field

NASA Astrophysics Data System (ADS)

Vatansever, Erol; Polat, Hamza

2015-08-01

By means of Monte Carlo simulation with local spin update Metropolis algorithm, we have elucidated non-equilibrium phase transition properties and stationary-state treatment of a disordered binary ferromagnetic alloy of the type ApB1-p on a square lattice. After a detailed analysis, we have found that the system shows many interesting and unusual thermal and magnetic behaviors, for instance, the locations of dynamic phase transition points change significantly depending upon amplitude and period of the external magnetic field as well as upon the active concentration of A-type components. Much effort has also been dedicated to clarify the hysteresis tools, such as coercivity, dynamic loop area as well as dynamic correlations between time dependent magnetizations and external time dependent applied field as a functions of period and amplitude of field as well as active concentration of A-type components, and outstanding physical findings have been reported in order to better understand the dynamic process underlying present system.

Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation.

PubMed

Mory, Patricia B; Crispim, Felipe; Kasamatsu, Teresa; Gabbay, Monica A L; Dib, Sergio A; Moisés, Regina S

2008-11-01

Lipodystrophies are a group of heterogeneous disorders characterized by the loss of adipose tissue and metabolic complications. The main familial forms of lipodystrophy are Congenital Generalized Lipodystrophy and Familial Partial Lipodystrophy (FPLD). FPLD may result from mutations in the LMNA gene. Besides FPLD, mutations in LMNA have been shown to be responsible for other inherited diseases called laminopathies. Here we describe the case of a 15-year-old girl who was referred to our service due to diabetes mellitus and severe hypertriglyceridemia. Physical examination revealed generalized loss of subcutaneous fat, confirmed by DEXA (total body fat 8.6%). As the patient presented with pubertal-onset of generalized lipodystrophy and insulin resistance, molecular analysis of the LMNA gene was performed. We identified a heterozygous substitution in exon 1 (c.29C>T) predicting a p.T10I mutation. In summary, we describe an atypical phenotype of lipodistrophy associated with a de novo appearance of the p.T10I mutation in LMNA gene.

Destabilization and intracranial fragmentation of a full metal jacket bullet.

PubMed

Farrugia, A; Raul, J S; Geraut, A; Tortel, M C; Ludes, B

2009-10-01

We report a case with an atypical entrance wound as a result of a destabilized full metal jacket bullet penetration. The destabilized bullet by an impact with the dorsal hand experiences a yawing to tumbling motion in flight. The large angle of yaw induces a larger presenting profile upon impact that contributes, associated to a rapid deceleration, to a greater mechanical force on the projectile structure and a fragmentation into core and jacket. Forensic pathologists have to be aware that the metal jacket bullet could tend to break up outside or inside the body particularly after a shooting through a target. This phenomenon induces atypical entrance wounds and atypical X-ray presentation. 2009 Elsevier Ltd and Faculty of Forensic and Legal Medicine.

Sensational Stars with Autism

ERIC Educational Resources Information Center

Simmons, Karen; Miller, Lucy Jane

2008-01-01

Sensory processing refers to the way the brain takes incoming sensory messages, converts them into meaningful messages, then makes a response. If the responses are disorganized or inappropriate given the sensory input, sensory processing disorder (SPD) may co-exist with autism. If a child has an occasional atypical response to sensation, he or she…

Prader-Willi syndrome: a case report with atypical developmental features.

PubMed

Sewaybricker, Letícia E; Guaragna-Filho, Guilherme; Paula, Georgette B; Andrade, Juliana G R; Tincani, Bruna J; D'Souza-Li, Lília; Lemos-Marini, Sofia H V; Maciel-Guerra, Andréa T; Guerra-Júnior, Gil

2014-09-01

To describe the case of a male Prader-Willi syndrome (PWS) patient with atypical development features. We report the case of a male adolescent with confirmed diagnosis of PWS which presents atypical phenotype. The patient progressed with spontaneous and complete pubertal development, stature in the normal range, and weight control without any pharmacological treatment, except metformin. PWS is an imprinting paternally inherited disorder of 15q11-13 characterized by hypotonia in infant age, hyperphagia, varied degrees of mental retardation, behavior problems, hypogonadism, short stature, and other less common findings.

Identifying a predictive model for response to atypical antipsychotic monotherapy treatment in south Indian schizophrenia patients.

PubMed

Gupta, Meenal; Moily, Nagaraj S; Kaur, Harpreet; Jajodia, Ajay; Jain, Sanjeev; Kukreti, Ritushree

2013-08-01

Atypical antipsychotic (AAP) drugs are the preferred choice of treatment for schizophrenia patients. Patients who do not show favorable response to AAP monotherapy are subjected to random prolonged therapeutic treatment with AAP multitherapy, typical antipsychotics or a combination of both. Therefore, prior identification of patients' response to drugs can be an important step in providing efficacious and safe therapeutic treatment. We thus attempted to elucidate a genetic signature which could predict patients' response to AAP monotherapy. Our logistic regression analyses indicated the probability that 76% patients carrying combination of four SNPs will not show favorable response to AAP therapy. The robustness of this prediction model was assessed using repeated 10-fold cross validation method, and the results across n-fold cross-validations (mean accuracy=71.91%; 95%CI=71.47-72.35) suggest high accuracy and reliability of the prediction model. Further validations of these results in large sample sets are likely to establish their clinical applicability. Copyright © 2013 Elsevier Inc. All rights reserved.

Atypical pyoderma gangrenosum mimicking an infectious process.

PubMed

To, Derek; Wong, Aaron; Montessori, Valentina

2014-01-01

We present a patient with atypical pyoderma gangrenosum (APG), which involved the patient's arm and hand. Hemorrhagic bullae and progressive ulcerations were initially thought to be secondary to an infectious process, but a biopsy revealed PG. Awareness of APG by infectious disease services may prevent unnecessary use of broad-spectrum antibiotics.

Childhood Atypical Teratoid/Rhabdoid Tumor Treatment (PDQ®)—Health Professional Version

Cancer.gov

Central nervous system atypical teratoid/rhabdoid tumor (AT/RT) is a clinically aggressive tumor that usually affects very young children. Get information about the tumor biology, presentation, diagnosis, prognosis, and treatment of newly diagnosed and recurrent childhood AT/RT in this comprehensive summary for clinicians.

Use of Atypical Antipsychotics in Nursing Homes and Pharmaceutical Marketing

PubMed Central

Pimentel, Camilla B.; Donovan, Jennifer L.; Field, Terry S.; Gurwitz, Jerry H.; Harrold, Leslie R.; Kanaan, Abir O.; Lemay, Celeste A.; Mazor, Kathleen M.; Tjia, Jennifer; Briesacher, Becky A.

2014-01-01

BACKGROUND Many nursing home (NH) residents are prescribed atypical antipsychotics despite US Food and Drug Administration warnings of increased risk of death in older adults with dementia. Aggressive pharmaceutical marketing has been cited as a potential cause, although data are scarce. The objectives of this study were to describe the current extent and type of pharmaceutical marketing in NHs in one state, and to provide preliminary evidence for the potential influence of pharmaceutical marketing on the use of atypical antipsychotics in NHs. DESIGN Nested mixed-methods, cross-sectional study of NHs in a cluster randomized trial. SETTING 41 NHs in Connecticut. PARTICIPANTS NH administrators, directors of nursing and medical directors (n = 93, response rate 75.6%). MEASUREMENTS Quantitative data, including prescription drug dispensing data (September 2009–August 2010) linked with Nursing Home Compare data (April 2011), were used to determine facility-level prevalence of atypical antipsychotic use, facility-level characteristics, NH staffing and NH quality. Qualitative data, including semi-structured interviews and surveys of NH leaders conducted in the first quarter of 2011, were used to determine encounters with pharmaceutical marketing. RESULTS Leadership at 46.3% of NHs (19/41) reported pharmaceutical marketing encounters, consisting of educational training, written/Internet-based materials and/or sponsored training. No association was detected between the level of atypical antipsychotic prescribing and reports of any pharmaceutical marketing by at least one NH leader. CONCLUSION NH leaders frequently encounter pharmaceutical marketing through a variety of ways, although the impact on atypical antipsychotic prescribing is unclear. PMID:25688605

Novel antipsychotics: issues and controversies. Typicality of atypical antipsychotics.

PubMed Central

Stip, E

2000-01-01

The typicality of atypical antipsychotic drugs remains debatable. Preclinical studies and findings from randomized, controlled and open trials of clozapine, olanzapine, risperidone, quetiapine, sertindole, ziprasidone and a substituted benzamide were examined. A MEDLINE search was conducted using key words, including "extrapyramidal side effects," "cognition," "schizophrenia" and the generic drug names. Over 140 articles from peer-reviewed journals were reviewed, some of which were based on a meta-analysis. New-generation neuroleptic agents were found to have greater efficacy on the negative symptoms of schizophrenia and to cause fewer unwanted extrapyramidal side effects (EPS) than the traditional antipsychotic drugs. On one hand, atypical neuroleptic agents could be strictly defined as any neuroleptic agent with antipsychotic effects at a dosage that does not cause extrapyramidal side effects. Thus, clozapine is regarded as the "standard" atypical antipsychotic drug. On the other hand, typicality is about dimension rather than category, and we suggest the use of the term "spectrum of atypicality." For example, an emphasis is placed on quetiapine to illustrate where a new compound fits in this spectrum. Although dose-related, atypicality may be more a question of prescription attitude than of a specific characteristic of a compound. The degree to which a new compound is clinically superior to another atypical antipsychotic drug, in terms of improving positive, negative or affective symptoms, cognitive function and long-term outcome, will require further a priori hypotheses based on conceptual frameworks that are clinically meaningful. In addition, the results from industry-sponsored trials should be more comparable to those obtained from investigator-leading trials. Finally, the patient characteristics that define a patient's response to a specific antipsychotic drug are unknown. PMID:10740987

Short-term cognitive improvement in schizophrenics treated with typical and atypical neuroleptics.

PubMed

Rollnik, Jens D; Borsutzky, Marthias; Huber, Thomas J; Mogk, Hannu; Seifert, Jürgen; Emrich, Hinderk M; Schneider, Udo

2002-01-01

Atypical neuroleptics seem to be more beneficial than typical ones with respect to long-term neuropsychological functioning. Thus, most studies focus on the long-term effects of neuroleptics. We were interested in whether atypical neuroleptic treatment is also superior to typical drugs over relatively short periods of time. We studied 20 schizophrenic patients [10 males, mean age 35.5 years, mean Brief Psychiatric Rating Scale (BPRS) score at entry 58.9] admitted to our hospital with acute psychotic exacerbation. Nine of them were treated with typical and 11 with atypical neuroleptics. In addition, 14 healthy drug-free subjects (6 males, mean age 31.2 years) were enrolled in the study and compared to the patients. As neuropsychological tools, a divided attention test, the Vienna reaction time test, the Benton visual retention test, digit span and a Multiple Choice Word Fluency Test (MWT-B) were used during the first week after admission, within the third week and before discharge (approximately 3 months). Patients scored significantly worse than healthy controls on nearly all tests (except Vienna reaction time). Clinical ratings [BPRS and Positive and Negative Symptom Scale for Schizophrenia (PANSS)] improved markedly (p < 0.01), without a significant difference between typical and atypical medication. Clinical improvement (PANSS total score) correlated with less mistakes on the Benton test (r = 0.762, p = 0.017) and an improvement on the divided attention task (r = 0.705, p = 0.034). Neuropsychological functioning (explicit memory, p < 0.01; divided attention, p < 0.05) moderately improved for both groups under treatment but without a significant difference between atypical and typical antipsychotic drugs. Over short periods of time (3 months), neuropsychological disturbances in schizophrenia seem to be moderately responsive to both typical and atypical neuroleptics. Copyright 2002 S. Karger AG, Basel

Atypical prefrontal cortical responses to joint/non-joint attention in children with autism spectrum disorder (ASD): A functional near-infrared spectroscopy study

PubMed Central

Zhu, Huilin; Li, Jun; Fan, Yuebo; Li, Xinge; Huang, Dan; He, Sailing

2015-01-01

Autism spectrum disorder (ASD) is a neuro-developmental disorder, characterized by impairments in one’s capacity for joint attention. In this study, functional near-infrared spectroscopy (fNIRS) was applied to study the differences in activation and functional connectivity in the prefrontal cortex between children with autism spectrum disorder (ASD) and typically developing (TD) children. 21 ASD and 20 TD children were recruited to perform joint and non-joint attention tasks. Compared with TD children, children with ASD showed reduced activation and atypical functional connectivity pattern in the prefrontal cortex during joint attention. The atypical development of left prefrontal cortex might play an important role in social cognition defects of children with ASD. PMID:25798296

Use of atypical antipsychotics in nursing homes and pharmaceutical marketing.

PubMed

Pimentel, Camilla B; Donovan, Jennifer L; Field, Terry S; Gurwitz, Jerry H; Harrold, Leslie R; Kanaan, Abir O; Lemay, Celeste A; Mazor, Kathleen M; Tjia, Jennifer; Briesacher, Becky A

2015-02-01

To describe the current extent and type of pharmaceutical marketing in nursing homes (NHs) in one state and to provide preliminary evidence for the potential influence of pharmaceutical marketing on the use of atypical antipsychotics in NHs. Nested mixed-methods, cross-sectional study of NHs in a cluster randomized trial. Forty-one NHs in Connecticut. NH administrators, directors of nursing, and medical directors (n = 93, response rate 75.6%). Quantitative data, including prescription drug dispensing data (September 2009-August 2010) linked with Nursing Home Compare data (April 2011), were used to determine facility-level prevalence of atypical antipsychotic use, facility-level characteristics, NH staffing, and NH quality. Qualitative data, including semistructured interviews and surveys of NH leaders conducted in the first quarter of 2011, were used to determine encounters with pharmaceutical marketing. Leadership at 46.3% of NHs (n = 19) reported pharmaceutical marketing encounters, consisting of educational training, written and Internet-based materials, and sponsored training. No association was detected between level of atypical antipsychotic prescribing and reports of any pharmaceutical marketing by at least one NH leader. NH leaders frequently encounter pharmaceutical marketing through a variety of ways, although the impact on atypical antipsychotic prescribing is unclear. © 2015, Copyright the Authors Journal compilation © 2015, The American Geriatrics Society.

Alternative technique in atypical spinal decompression: the use of the ultrasonic scalpel in paediatric achondroplasia

PubMed Central

Woodacre, Timothy; Sewell, Matthew; Clarke, Andrew J; Hutton, Mike

2016-01-01

Spinal stenosis can be a very disabling condition. Surgical decompression carries a risk of dural tear and neural injury, which is increased in patients with severe stenosis or an atypical anatomy. We present an unusual case of symptomatic stenosis secondary to achondroplasia presenting in a paediatric patient, and highlight a new surgical technique used to minimise the risk of dural and neural injury during decompression. PMID:27288205

Herpes zoster - typical and atypical presentations.

PubMed

Dayan, Roy Rafael; Peleg, Roni

2017-08-01

Varicella- zoster virus infection is an intriguing medical entity that involves many medical specialties including infectious diseases, immunology, dermatology, and neurology. It can affect patients from early childhood to old age. Its treatment requires expertise in pain management and psychological support. While varicella is caused by acute viremia, herpes zoster occurs after the dormant viral infection, involving the cranial nerve or sensory root ganglia, is re-activated and spreads orthodromically from the ganglion, via the sensory nerve root, to the innervated target tissue (skin, cornea, auditory canal, etc.). Typically, a single dermatome is involved, although two or three adjacent dermatomes may be affected. The lesions usually do not cross the midline. Herpes zoster can also present with unique or atypical clinical manifestations, such as glioma, zoster sine herpete and bilateral herpes zoster, which can be a challenging diagnosis even for experienced physicians. We discuss the epidemiology, pathophysiology, diagnosis and management of Herpes Zoster, typical and atypical presentations.

Comparison of central and intraesophageal factors between gastroesophageal reflux disease (GERD) patients and those with GERD-related noncardiac chest pain.

PubMed

Shapiro, M; Simantov, R; Yair, M; Leitman, M; Blatt, A; Scapa, E; Broide, E

2012-01-01

Gastroesophageal reflux disease (GERD) causes a wide range of symptoms. Some patients present with typical symptoms such as heartburn and regurgitation and others with atypical symptoms such as chest pain. The mechanism responsible for the varying clinical presentation of GERD is still not fully elucidated. The aim of this study was to prospectively evaluate differences in central and local intraesophageal factors between patients with typical GERD symptoms and those with noncardiac chest pain (NCCP). Patients presenting with typical and atypical symptoms suspicious of GERD underwent upper endoscopy and 24-hour pH monitoring with four sensors, each positioned at a different esophageal level. All patients completed GERD symptom, Hospital Anxiety and Depression Scale, and Symptom Stress Rating questionnaires. From January 2006 to December 2009, 50 patients were recruited, 29 with typical symptoms, and 21 with NCCP. Patients with proven GERD and NCCP had higher proximal extension of acid during reflux episodes than patients with typical symptoms. They were found to be older, had a shorter history of symptom onset, worse anxiety scores, and more endoscopic findings compatible with gastritis. Proximal extension of acid during the reflux episodes in patients with GERD presenting with NCCP may play a role in symptom generation. © 2012 Copyright the Authors. Journal compilation © 2012, Wiley Periodicals, Inc. and the International Society for Diseases of the Esophagus.

High prevalence of atypical hyperplasia in the endometrium of patients with epithelial ovarian cancer.

PubMed

Mingels, Marjanka J J M; Masadah, Rina; Geels, Yvette P; Otte-Höller, Irene; de Kievit, Ineke M; van der Laak, Jeroen A W M; van Ham, Maaike A P C; Bulten, Johan; Massuger, Leon F A G

2014-08-01

The aim of the present study is to determine the prevalence of endometrial premalignancies in women diagnosed with epithelial ovarian cancer (EOC). Endometrial and ovarian specimens of 186 patients with EOC were retrospectively selected using the nationwide pathology network and registry, and sections were comprehensively reviewed: 136 (73%) serous, 19 (10%) endometrioid, 15 (8%) mucinous, seven (4%) clear cell, and nine (5%) undifferentiated. Immunohistochemical phenotypes were compared for patients with serous EOC with concurrent endometrial pathology. In 31%, endometrial (pre)malignancy was found: carcinoma in 3%, endometrial intraepithelial carcinoma (EIC) in 4%, and atypical hyperplasia in 24%. Atypical hyperplasia was found in 47% of endometrioid EOCs but in 7% to 33% of other subtypes. Body mass index was higher concurrent to atypical hyperplasia (P=.001). Serous EOC and EIC immunophenotypes were comparable, whereas atypical hyperplasia was expressed differently. Apart from synchronous endometrial carcinoma, endometrial premalignancies should be taken into account when determining optimal treatment for women diagnosed with EOC. Copyright© by the American Society for Clinical Pathology.

Large Vessel Occlusion Scales Increase Delivery to Endovascular Centers Without Excessive Harm From Misclassifications.

PubMed

Zhao, Henry; Coote, Skye; Pesavento, Lauren; Churilov, Leonid; Dewey, Helen M; Davis, Stephen M; Campbell, Bruce C V

2017-03-01

Clinical large vessel occlusion (LVO) triage scales were developed to identify and bypass LVO to endovascular centers. However, there are concerns that scale misclassification of patients may cause excessive harm. We studied the settings where misclassifications were likely to occur and the consequences of these misclassifications in a representative stroke population. Prospective data were collected from consecutive ambulance-initiated stroke alerts at 2 stroke centers, with patients stratified into typical (LVO with predefined severe syndrome and non-LVO without) or atypical presentations (opposite situations). Five scales (Rapid Arterial Occlusion Evaluation [RACE], Los Angeles Motor Scale [LAMS], Field Assessment Stroke Triage for Emergency Destination [FAST-ED], Prehospital Acute Stroke Severity scale [PASS], and Cincinnati Prehospital Stroke Severity Scale [CPSSS]) were derived from the baseline National Institutes of Health Stroke Scale scored by doctors and analyzed for diagnostic performance compared with imaging. Of a total of 565 patients, atypical presentations occurred in 31 LVO (38% of LVO) and 50 non-LVO cases (10%). Most scales correctly identified >95% of typical presentations but <20% of atypical presentations. Misclassification attributable to atypical presentations would have resulted in 4 M1/internal carotid artery occlusions, with National Institutes of Health Stroke Scale score ≥6 (5% of LVO) being missed and 9 non-LVO infarcts (5%) bypassing the nearest thrombolysis center. Atypical presentations accounted for the bulk of scale misclassifications, but the majority of these misclassifications were not detrimental, and use of LVO scales would significantly increase timely delivery to endovascular centers, with only a small proportion of non-LVO infarcts bypassing the nearest thrombolysis center. Our findings, however, would require paramedics to score as accurately as doctors, and this translation is made difficult by weaknesses in current scales that need to be addressed before widespread adoption. © 2017 American Heart Association, Inc.

Spontaneous Regression of Pulmonary Nodules Presenting as Epstein-Barr Virus-related Atypical Infectious Mononucleosis.

PubMed

Shinozuka, Jun; Awaguni, Hitoshi; Tanaka, Shin-Ichiro; Makino, Shigeru; Maruyama, Rikken; Inaba, Tohru; Imashuku, Shinsaku

2016-07-01

Pulmonary nodules associated with Epstein-Barr virus (EBV)-related atypical infectious mononucleosis have rarely been described. A 12-year-old Japanese boy, upon admission, revealed multiple small round nodules (a total of 7 nodules in 4 to 8 mm size) in the lungs on computed tomography. The hemorrhagic pharyngeal tonsils with hot signals on 18F-fluorodeoxyglucose-positron emission tomography-computed tomography were biopsied revealing the presence of EBV-encoded small nuclear RNA (EBER)-positive cells; however, no lymphoma was noted. The patient was diagnosed as having atypical EBV-infectious mononucleosis associated with primary EBV infection. Pulmonary nodules markedly reduced in numbers and sizes spontaneously over a 2-year period. Differential diagnosis of pulmonary nodules in childhood should include atypical EBV infection.

Disseminated cutaneous atypical mycobacteriosis by M. chelonae after sclerotherapy of varicose veins in a immunocompetent patient: a case report*

PubMed Central

Murback, Nathalia Dias Negrão; Higa Júnior, Minoru German; Pompílio, Maurício Antônio; Cury, Eunice Stella Jardim; Hans Filho, Gunter; Takita, Luiz Carlos

2015-01-01

Atypical mycobacteria are saprophytic organisms not transmitted from person to person, which affect mainly immunosuppressed but also immunocompetent individuals. We present a case of atypical mycobacteriosis after a vascular procedure, with widespread cutaneous lesions associated with polyarthralgia. Mycobacterium chelonae was identified by the polymerase chain reaction (PCR) method. The patient showed improvement after treatment with three antibiotics. Mycobacterium chelonae causes skin lesions after invasive procedures. The clinical form depends on the immune state of the host and on the entry points. The diagnosis is based essentially on culture and the mycobacteria is identified by PCR. We highlight the importance of investigating atypical mycobacteriosis when faced with granulomatous lesions associated with a history of invasive procedures. PMID:26312697

Atypical presentations of subacute sclerosing panencephalitis in two neurologically handicapped cases.

PubMed

Demir, E; Ozcelik, A; Arhan, E; Serdaroglu, A; Gucuyener, K

2009-08-01

Subacute sclerosing panencephalitis (SSPE) is a neurodegenerative disorder caused by persistent measles infection. Here, we report two neurologically handicapped cases presenting with atypical features of SSPE. Patient 1 who had mild mental retardation manifested acute encephalopathy with partial seizures and hemiplegia, mimicking encephalitis. He showed a fulminant course without myoclonia or a periodic electroencephalogram complex. Although SSPE is usually associated with an increased diffusion pattern, diffusion-weighted imaging of our patient showed decreased diffusion in the right hippocampus. Patient 2 with infantile hemiparesis presented with secondary generalized seizures, followed by asymettrical myoclonias involving the side contralateral to the hemiparesis. A periodic electroencephalogram complex was absent on the previously damaged brain regions. Our findings show that preexisting neurological disorders may modify the clinical or electrophysiological findings of SSPE, leading to atypical presentations. SSPE should be considered in the differential diagnosis of acute encephalopathy with lateralizing signs or unidentified seizures. Decreased diffusion resolution in diffusion-weighted-imaging may correlate with rapid clinical progression in SSPE. Georg Thieme Verlag KG Stuttgart New York.

Hemodynamics of speech production: An fNIRS investigation of children who stutter.

PubMed

Walsh, B; Tian, F; Tourville, J A; Yücel, M A; Kuczek, T; Bostian, A J

2017-06-22

Stuttering affects nearly 1% of the population worldwide and often has life-altering negative consequences, including poorer mental health and emotional well-being, and reduced educational and employment achievements. Over two decades of neuroimaging research reveals clear anatomical and physiological differences in the speech neural networks of adults who stutter. However, there have been few neurophysiological investigations of speech production in children who stutter. Using functional near-infrared spectroscopy (fNIRS), we examined hemodynamic responses over neural regions integral to fluent speech production including inferior frontal gyrus, premotor cortex, and superior temporal gyrus during a picture description task. Thirty-two children (16 stuttering and 16 controls) aged 7-11 years participated in the study. We found distinctly different speech-related hemodynamic responses in the group of children who stutter compared to the control group. Whereas controls showed significant activation over left dorsal inferior frontal gyrus and left premotor cortex, children who stutter exhibited deactivation over these left hemisphere regions. This investigation of neural activation during natural, connected speech production in children who stutter demonstrates that in childhood stuttering, atypical functional organization for speech production is present and suggests promise for the use of fNIRS during natural speech production in future research with typical and atypical child populations.

Evolution of an atypical de-epoxidase for photoprotection in the green lineage

DOE PAGES

Li, Zhirong; Peers, Graham; Dent, Rachel M.; ...

2016-09-12

Plants, algae and cyanobacteria need to regulate photosynthetic light harvesting in response to the constantly changing light environment. Rapid adjustments are required to maintain fitness because of a trade-off between efficient solar energy conversion and photoprotection. The xanthophyll cycle, in which the carotenoid pigment violaxanthin is reversibly converted into zeaxanthin, is ubiquitous among green algae and plants and is necessary for the regulation of light harvesting, protection from oxidative stress and adaptation to different light conditions. Violaxanthin de-epoxidase (VDE) is the key enzyme responsible for zeaxanthin synthesis from violaxanthin under excess light. Here in this paper, we show that themore » Chlorophycean VDE (CVDE) gene from the model green alga Chlamydomonas reinhardtii encodes an atypical VDE. This protein is not homologous to the VDE found in plants and is instead related to a lycopene cyclase from photosynthetic bacteria. Unlike the plant-type VDE that is located in the thylakoid lumen, the Chlamydomonas CVDE protein is located on the stromal side of the thylakoid membrane. Phylogenetic analysis suggests that CVDE evolved from an ancient de-epoxidase that was present in the common ancestor of green algae and plants, providing evidence of unexpected diversity in photoprotection in the green lineage.« less

Trait-level temporal lobe hypoactivation to social exclusion in unaffected siblings of children and adolescents with autism spectrum disorders

PubMed Central

Bolling, Danielle Z.; Pelphrey, Kevin A.; Vander Wyk, Brent C.

2015-01-01

Social exclusion elicits powerful feelings of negative affect associated with rejection. Additionally, experiencing social exclusion reliably recruits neural circuitry associated with emotion processing. Recent work has demonstrated abnormal neural responses to social exclusion in children and adolescents with autism spectrum disorders (ASD). However, it remains unknown to what extent these abnormalities are due to atypical social experiences versus genetic predispositions to atypical neural processing. To address this question, the current study investigated brain responses to social exclusion compared to a baseline condition of fair play in unaffected siblings of youth with ASD using functional magnetic resonance imaging. We identified common deviations between unaffected siblings and ASD probands that might represent trait-level abnormalities in processing social exclusion versus fair play, specifically in the right anterior temporoparietal junction extending into posterior superior temporal sulcus. Thus, hypoactivation to social exclusion versus fair play in this region may represent a shared genetic vulnerability to developing autism. In addition, we present evidence supporting the idea that one’s status as an unaffected sibling moderates the relationship between IQ and neural activation to social exclusion versus fair play in anterior cingulate cortex. These results are discussed in the context of previous literature on neural endophenotypes of autism. PMID:26011751

Evolution of an atypical de-epoxidase for photoprotection in the green lineage

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

Li, Zhirong; Peers, Graham; Dent, Rachel M.

Plants, algae and cyanobacteria need to regulate photosynthetic light harvesting in response to the constantly changing light environment. Rapid adjustments are required to maintain fitness because of a trade-off between efficient solar energy conversion and photoprotection. The xanthophyll cycle, in which the carotenoid pigment violaxanthin is reversibly converted into zeaxanthin, is ubiquitous among green algae and plants and is necessary for the regulation of light harvesting, protection from oxidative stress and adaptation to different light conditions. Violaxanthin de-epoxidase (VDE) is the key enzyme responsible for zeaxanthin synthesis from violaxanthin under excess light. Here in this paper, we show that themore » Chlorophycean VDE (CVDE) gene from the model green alga Chlamydomonas reinhardtii encodes an atypical VDE. This protein is not homologous to the VDE found in plants and is instead related to a lycopene cyclase from photosynthetic bacteria. Unlike the plant-type VDE that is located in the thylakoid lumen, the Chlamydomonas CVDE protein is located on the stromal side of the thylakoid membrane. Phylogenetic analysis suggests that CVDE evolved from an ancient de-epoxidase that was present in the common ancestor of green algae and plants, providing evidence of unexpected diversity in photoprotection in the green lineage.« less

Lethal acute demyelinization with encephalo-myelitis as a complication of cured Cushing's disease.

PubMed

Chevalier, N; Hieronimus, S; Vandenbos, F; Delmont, E; Cua, E; Cherick, F; Paquis, P; Michiels, J-F; Fenichel, P; Brucker-Davis, F

2010-12-01

Cushing's disease is usually associated with higher mortality rate, especially from cardiovascular causes. Development or exacerbation of autoimmune or inflammatory diseases is known to occur in patients with hypercortisolism after cure. We report for the first time a 34-year old woman with a psychiatric background, who developed four months after the surgical cure of Cushing's disease an acute disseminated encephalomyelitis (ADEM) presenting initially as a psychiatric illness. We hypothesize that the recent correction of hypercortisolism triggered ADEM and that the atypical presentation, responsible for diagnosis delay, led to the death of this patient. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

The varied clinical presentations of major depressive disorder.

PubMed

Rush, A John

2007-01-01

DSM-IV major depressive disorder (MDD) is a clinical syndrome notable for heterogeneity of its clinical presentation, genetics, neurobiology, clinical course, and treatment responsiveness. In an attempt to make sense of this heterogeneity, clinicians and researchers have proposed a number of MDD "subtypes" based on differences in characteristic symptoms (e.g., atypical, melancholic, psychotic), onset (e.g., early vs. late, post-partum, seasonal), course of illness (e.g., single vs. recurrent, chronic, double), and severity. This article provides a brief review of the status of several of the most common subtypes in terms of their clinical features, biological correlates, course of illness, and treatment implications.

Atypical depressive symptoms and obesity in a national sample of older adults with major depressive disorder.

PubMed

Chou, Kee-Lee; Yu, Kar-Ming

2013-06-01

The objectives of this study are to present findings on the rate of obesity associated with classic, atypical, and undifferentiated depression by comparing with those without depression in a nationally representative sample of United States older adults. The authors used data from the 2001 to 2002 National Epidemiologic Survey of Alcohol and Related Conditions (NESARC), which included 10,557 adults 60 years of age and older. Chi-square tests were used to compare classic, atypical, and undifferentiated as well as nondepressed control in sociodemographic characteristics. Then, logistic regressions adjusting for sociodemographic characteristics were used to evaluate associations of rate of current obesity (defined as Body Mass Index (BMI) > 30) across the three depressive groups (classic, atypical, and undifferentiated depression) and nondepressed control. Lifetime, current, and past depression were examined. Significant differences were found between atypical and classic depression in sex, age, marital status, race, and personal income. After adjusting for sex, age, marital status, race, and personal income, the rate of obesity was significantly greater for respondents with atypical depression than respondents with classic, undifferentiated depression, or without depression. Same results were found in lifetime, current, and past depression. Our findings suggest that the heterogeneity of depression should be considered when examining the effect of depression on obesity in old age. Prevention measures should be designed and delivered to older adults with atypical depression. © 2013 Wiley Periodicals, Inc.

Atypical fibroxanthoma and pleomorphic dermal sarcoma harbor frequent NOTCH1/2 and FAT1 mutations and similar DNA copy number alteration profiles.

PubMed

Griewank, Klaus G; Wiesner, Thomas; Murali, Rajmohan; Pischler, Carina; Müller, Hansgeorg; Koelsche, Christian; Möller, Inga; Franklin, Cindy; Cosgarea, Ioana; Sucker, Antje; Schadendorf, Dirk; Schaller, Jörg; Horn, Susanne; Brenn, Thomas; Mentzel, Thomas

2018-03-01

Atypical fibroxanthomas and pleomorphic dermal sarcomas are tumors arising in sun-damaged skin of elderly patients. They have differing prognoses and are currently distinguished using histological criteria, such as invasion of deeper tissue structures, necrosis and lymphovascular or perineural invasion. To investigate the as-yet poorly understood genetics of these tumors, 41 atypical fibroxanthomas and 40 pleomorphic dermal sarcomas were subjected to targeted next-generation sequencing approaches as well as DNA copy number analysis by comparative genomic hybridization. In an analysis of the entire coding region of 341 oncogenes and tumor suppressor genes in 13 atypical fibroxanthomas using an established hybridization-based next-generation sequencing approach, we found that these tumors harbor a large number of mutations. Gene alterations were identified in more than half of the analyzed samples in FAT1, NOTCH1/2, CDKN2A, TP53, and the TERT promoter. The presence of these alterations was verified in 26 atypical fibroxanthoma and 35 pleomorphic dermal sarcoma samples by targeted amplicon-based next-generation sequencing. Similar mutation profiles in FAT1, NOTCH1/2, CDKN2A, TP53, and the TERT promoter were identified in both atypical fibroxanthoma and pleomorphic dermal sarcoma. Activating RAS mutations (G12 and G13) identified in 3 pleomorphic dermal sarcoma were not found in atypical fibroxanthoma. Comprehensive DNA copy number analysis demonstrated a wide array of different copy number gains and losses, with similar profiles in atypical fibroxanthoma and pleomorphic dermal sarcoma. In summary, atypical fibroxanthoma and pleomorphic dermal sarcoma are highly mutated tumors with recurrent mutations in FAT1, NOTCH1/2, CDKN2A, TP53, and the TERT promoter, and a range of DNA copy number alterations. These findings suggest that atypical fibroxanthomas and pleomorphic dermal sarcomas are genetically related, potentially representing two ends of a common tumor spectrum and distinguishing these entities is at present still best performed using histological criteria.

Ubiquitination in the antiviral immune response.

PubMed

Davis, Meredith E; Gack, Michaela U

2015-05-01

Ubiquitination has long been known to regulate fundamental cellular processes through the induction of proteasomal degradation of target proteins. More recently, 'atypical' non-degradative types of polyubiquitin chains have been appreciated as important regulatory moieties by modulating the activity or subcellular localization of key signaling proteins. Intriguingly, many of these non-degradative types of ubiquitination regulate the innate sensing pathways initiated by pattern recognition receptors (PRRs), ultimately coordinating an effective antiviral immune response. Here we discuss recent advances in understanding the functional roles of degradative and atypical types of ubiquitination in innate immunity to viral infections, with a specific focus on the signaling pathways triggered by RIG-I-like receptors, Toll-like receptors, and the intracellular viral DNA sensor cGAS. Copyright © 2015 Elsevier Inc. All rights reserved.

Atypical Pyoderma Gangrenosum Mimicking an Infectious Process

PubMed Central

To, Derek; Wong, Aaron; Montessori, Valentina

2014-01-01

We present a patient with atypical pyoderma gangrenosum (APG), which involved the patient's arm and hand. Hemorrhagic bullae and progressive ulcerations were initially thought to be secondary to an infectious process, but a biopsy revealed PG. Awareness of APG by infectious disease services may prevent unnecessary use of broad-spectrum antibiotics. PMID:25024856

Idiosyncratic Genetic Specificity for Neurolinguistic Systems: A Cause of Atypical or Delayed Language Acquisition.

ERIC Educational Resources Information Center

Lamendella, John T.

The diagnostic problem presented by children without obvious neurological, cognitive, genetic, emotional or environmental basis for their atypical or delayed language development is discussed. One unresolved issue is whether the deficits of such dysphasic children are linguistic or are more fundamental cognitive or perceptuomotor deficits. A…

Impaired Overt Facial Mimicry in Response to Dynamic Facial Expressions in High-Functioning Autism Spectrum Disorders

ERIC Educational Resources Information Center

Yoshimura, Sayaka; Sato, Wataru; Uono, Shota; Toichi, Motomi

2015-01-01

Previous electromyographic studies have reported that individuals with autism spectrum disorders (ASD) exhibited atypical patterns of facial muscle activity in response to facial expression stimuli. However, whether such activity is expressed in visible facial mimicry remains unknown. To investigate this issue, we videotaped facial responses in…

Psychopathic Traits and Physiological Responses to Aversive Stimuli in Children Aged 9-11 Years

ERIC Educational Resources Information Center

Wang, Pan; Baker, Laura A.; Gao, Yu; Raine, Adrian; Lozano, Dora Isabel

2012-01-01

Atypical electrodermal and cardiovascular response patterns in psychopathic individuals are thought to be biological indicators of fearless and disinhibition. This study investigated the relationship between psychopathic traits and these autonomic response patterns using a countdown task in 843 children (aged 9-10 years). Heart rate (HR) and…

Atypical antipsychotics and glucose homeostasis.

PubMed

Bergman, Richard N; Ader, Marilyn

2005-04-01

Persistent reports have linked atypical antipsychotics with diabetes, yet causative mechanisms responsible for this linkage are unclear. Goals of this review are to outline the pathogenesis of nonimmune diabetes and to survey the available literature related to why antipsychotics may lead to this disease. We accessed the literature regarding atypical antipsychotics and glucose homeostasis using PubMed. The search included English-language publications from 1990 through October 2004. Keywords used included atypical antipsychotics plus one of the following: glucose, insulin, glucose tolerance, obesity, or diabetes. In addition, we culled information from published abstracts from several national and international scientific meetings for the years 2001 through 2004, including the American Diabetes Association, the International Congress on Schizophrenia Research, and the American College of Neuropsychopharmacology. The latter search was necessary because of the paucity of well-controlled prospective studies. We examined publications with significant new data or publications that contributed to the overall comprehension of the impact of atypical antipsychotics on glucose metabolism. We favored original peer-reviewed articles and were less likely to cite single case studies and/or anecdotal information. Approximately 75% of the fewer than 150 identified articles were examined and included in this review. Validity of data was evaluated using the existence of peer-review status as well as our own experience with methodology described in the specific articles. The metabolic profile caused by atypical antipsychotic treatment resembles type 2 diabetes. These agents cause weight gain in treated subjects and may induce obesity in both visceral and subcutaneous depots, as occurs in diabetes. Insulin resistance, usually associated with obesity, occurs to varying degrees with different antipsychotics, although more comparative studies with direct assessment of resistance are needed. A major problem in assessing drug effects is that psychiatric disease itself can cause many of the manifestations leading to diabetes, including weight gain and sedentary lifestyle. While studies in healthy subjects are limited and inconclusive, studies in animal models are more revealing. In the conscious canine model, some atypical antipsychotics cause adiposity, including visceral obesity, a strong risk factor for the metabolic syndrome. Furthermore, while few studies have examined effects of antipsychotics on pancreatic beta-cell function, canine studies demonstrate that expected beta-cell compensation for insulin resistance may be reduced or even eliminated with these agents. Atypical antipsychotics have been shown to contribute to weight gain, which may well reflect increased body fat deposition. Such increased fat is known to cause resistance to insulin action, although more information regarding effect on insulin action is needed. The effect of these drugs on fat distribution has been clearly shown in animal models. It is known that the normal response to insulin resistance is compensatory hyperinsulinemia, which may prevent diabetes. In animals, there is evidence that the hyperinsulinemic compensation is inadequate in the face of atypical antipsychotic agents. It remains to be examined whether failure of adequate pancreatic beta-cell compensation for insulin resistance plays a central role in the pathogenesis of diabetes associated with this class of drugs.

Unilateral purpura annularis telangiectodes of majocchi in an elderly male: an atypical presentation.

PubMed

Wang, Apphia; Shuja, Fareesa; Chan, Audrey; Wasko, Carina

2013-08-15

Purpura annularis telangiectodes (PAT), also known as Majocchi purpura, is a rare form of pigmented purpuric dermatosis characterized by non-palpable red-brown, occasionally pruritic patches which progress to hyperpigmented halos. Purpura annularis telangiectodes usually presents in female adolescents as benign symmetric lesions with a predilection for the lower extremities. We present an atypical case of unilateral PAT in an elderly male. To our knowledge, our patient at 85-years-old is the oldest PAT and first unilateral purpura annularis telangiectodes case described in the literature.

Orbital Floor Fracture with Atypical Extraocular Muscle Entrapment Pattern and Intraoperative Asystole in an Adult

PubMed Central

Merali, Farhan I.; Grant, Michael P.; Mahoney, Nicholas R.

2015-01-01

Extraocular muscle entrapment in a nondisplaced orbital fracture, although a well-known entity in pediatric trauma, is atypical in adults. It can present with a triad of bradycardia, nausea, and in rare cases, syncope, and result in severe fibrosis of damaged and incarcerated muscle. We present a case of muscle entrapment in a partially nondisplaced two-wall orbital fracture with accompanying preoperative bradycardia and intraoperative asystole in an adult PMID:26576246

Atypical ulcers: wound biopsy results from a university wound pathology service .

PubMed

Tang, Jennifer C; Vivas, Alejandra; Rey, Andrea; Kirsner, Robert S; Romanelli, Paolo

2012-06-01

Chronic wounds are an increasing health burden across the continuum of care and encountered by a wide variety of healthcare providers and physicians of all specialties. The majority of chronic wounds are caused by vascular insufficiency, neuropathy, or prolonged pressure. Wounds caused by other underlying health conditions or external factors such as radiation or spider bites are usually referred to as atypical. Although a wound biopsy generally is recommended in the case of refractory, nonhealing ulcers or when wounds present with atypical signs and symptoms, little is known about the distribution of atypical ulcers. A retrospective, descriptive study was conducted to describe the proportion and differential diagnosis of atypical ulcer biopsies received during a 2-year period by the wound pathology division in the division of Dermatopathology at the University of Miami Department of Dermatology and Cutaneous Surgery. Of the 350 wound biopsies received for diagnostic purposes, 104 (29.7%) were due to atypical causes. The majority of specimens were neoplasms (n = 24). Pyoderma gangrenosum was the most common atypical diagnosis encountered (n = 14). Vasculitis, predominantly leukocytoclastic vasculitis, and external causes were diagnosed in 16 and 15 biopsies, respectively. This study represents the first published case series of atypical ulcer biopsy results from a wound pathology division. Although the prevalence results cannot be generalized and are likely lower in the general population of patients with nonhealing wounds, the results confirm the usefulness of obtaining wound biopsies to provide a definitive diagnosis and to guide care.

Analysis of clinical characteristics and antipsychotic medication prescribing practices of first-episode schizophrenia in Israel: a naturalistic prospective study.

PubMed

Strous, Rael D; Bar, Faina; Keret, Noa; Lapidus, Raya; Kosov, Nikolai; Chelben, Joseph; Kotler, Moshe

2006-01-01

Investigation of the clinical presentation and treatment of first-episode psychosis is important in order to exclude effects of age, chronic illness, long-term treatment and institutionalization. The aim of this descriptive study was to investigate the management practices of first-episode schizophrenia in a cohort of patients in Israel and to document use of the various "typical" or "atypical" antipsychotic agents. Fifty-one consecutive patients (26 M, 25 F) with first-episode psychosis were recruited for study participation and were administered either typical or atypical antipsychotic medications in a naturalistic manner. While an approximately equal number of subjects received typical and atypical medications at illness onset, a prominent shift to atypical antipsychotic treatment occurred over the study course; 18 subjects had medication class shifts: 17 from typical to atypical, and one from atypical to typical. Negative symptoms did not affect length of hospitalization, but were associated with aggression. Higher depression rates were noted in patients with long hospitalizations who received typical antipsychotic medications. Immigrants were admitted at an age approximately four years older than native-born Israelis. The prominent shift from "typical" to "atypical" antipsychotic medications may indicate sensitivity of first-episode psychotic patients to side-effects of "typical" medications and prominence of use of atypical medications in this patient subpopulation be it due to improved efficacy over time or successful marketing. Unique cultural and population characteristics may contribute to the manifestation of first-episode psychosis and suggest the importance of more effective outreach to the immigrant population in order to manage an apparent treatment delay.

Real frequency of ordinary and atypical sub-trochanteric and diaphyseal fractures in France based on X-rays and medical file analysis.

PubMed

Beaudouin-Bazire, Constance; Dalmas, Noémie; Bourgeois, Julie; Babinet, Antoine; Anract, Philippe; Chantelot, Christophe; Farizon, Frédéric; Chopin, Florence; Briot, Karine; Roux, Christian; Cortet, Bernard; Thomas, Thierry

2013-03-01

Atypical sub-trochanteric and femoral shaft fractures have been reported in patients treated with bisphosphonates. Their incidence has been determined from registered data analysis using international codes. Therefore, the aim of our study was to estimate the real frequency of typical and atypical sub-trochanteric or diaphyseal fractures, based on radiological and clinical data compared to registered data. In the registers of three large French University Hospitals, patients identified with International Classification of Diseases, 10th Revision diagnosis codes for sub-trochanteric or diaphyseal fracture were selected. Frequencies of ordinary and atypical fractures were calculated after both registered data, radiological and clinical files analysis. Among the 4592 patients hospitalized for a femoral fracture over 5 years, 574 were identified to have had a sub-trochanteric or femoral shaft fracture. 47.7% of the sub-trochanteric and femoral shaft fractures were misclassified, predominantly in the sub-trochanteric fractures subset. 12 patients had an atypical fracture (4% of the sub-trochanteric and femoral shaft fractures) and 11 fractures presented radiological features of atypical fractures, whereas clinical files analysis revealed they were pathological or traumatic fractures. Atypical fractures frequency is very low. Because of their low frequency and the unreliability of registered databases, the risk of atypical fractures is very difficult to estimate retrospectively. A prospective study is needed to clarify the risk factors associated with these fractures. Copyright © 2012 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

Atypical Intracranial Epidermoid Cysts: Rare Anomalies with Unique Radiological Features

PubMed Central

Law, Eric K. C.; Lee, Ryan K. L.; Ng, Alex W. H.; Siu, Deyond Y. W.; Ng, Ho-Keung

2015-01-01

Epidermoid cysts are benign slow growing extra-axial tumours that insinuate between brain structures, while their occurrences in intra-axial or intradiploic locations are exceptionally rare. We present the clinical, imaging, and pathological findings in two patients with atypical epidermoid cysts. CT and MRI findings for the first case revealed an intraparenchymal epidermoid cyst that demonstrated no restricted diffusion. The second case demonstrated an aggressive epidermoid cyst that invaded into the intradiploic spaces, transverse sinus, and the calvarium. The timing of ectodermal tissue sequestration during fetal development may account for the occurrence of atypical epidermoid cysts. PMID:25667778

The atypical pneumonias: clinical diagnosis and importance.

PubMed

Cunha, B A

2006-05-01

The most common atypical pneumonias are caused by three zoonotic pathogens, Chlamydia psittaci (psittacosis), Francisella tularensis (tularemia), and Coxiella burnetii (Q fever), and three nonzoonotic pathogens, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella. These atypical agents, unlike the typical pathogens, often cause extrapulmonary manifestations. Atypical CAPs are systemic infectious diseases with a pulmonary component and may be differentiated clinically from typical CAPs by the pattern of extrapulmonary organ involvement which is characteristic for each atypical CAP. Zoonotic pneumonias may be eliminated from diagnostic consideration with a negative contact history. The commonest clinical problem is to differentiate legionnaire's disease from typical CAP as well as from C. pneumoniae or M. pneumonia infection. Legionella is the most important atypical pathogen in terms of severity. It may be clinically differentiated from typical CAP and other atypical pathogens by the use of a weighted point system of syndromic diagnosis based on the characteristic pattern of extrapulmonary features. Because legionnaire's disease often presents as severe CAP, a presumptive diagnosis of Legionella should prompt specific testing and empirical anti-Legionella therapy such as the Winthrop-University Hospital Infectious Disease Division's weighted point score system. Most atypical pathogens are difficult or dangerous to isolate and a definitive laboratory diagnosis is usually based on indirect, i.e., direct flourescent antibody (DFA), indirect flourescent antibody (IFA). Atypical CAP is virtually always monomicrobial; increased IFA IgG tests indicate past exposure and not concurrent infection. Anti-Legionella antibiotics include macrolides, doxycycline, rifampin, quinolones, and telithromycin. The drugs with the highest level of anti-Legionella activity are quinolones and telithromycin. Therapy is usually continued for 2 weeks if potent anti-Legionella drugs are used. In adults, M. pneumoniae and C. pneumoniae may exacerbate or cause asthma. The importance of the atypical pneumonias is not related to their frequency (approximately 15% of CAPs), but to difficulties in their diagnosis, and their nonresponsiveness to beta-lactam therapy. Because of the potential role of C. pneumoniae in coronary artery disease and multiple sclerosis (MS), and the role of M. pneumoniae and C. pneumoniae in causing or exacerbating asthma, atypical CAPs also have public health importance.

The Relationship Between Autistic Traits and Atypical Sensory Functioning in Neurotypical and ASD Adults: A Spectrum Approach.

PubMed

Mayer, Jennifer L

2017-02-01

Sensory processing atypicalities are a common feature in Autism Spectrum Disorders (ASD) and have previously been linked to a range of behaviours in individuals with ASD and atypical neurological development. More recently research has demonstrated a relationship between autistic traits in the neurotypical (NT) population and increased levels of atypical sensory behaviours. The aim of the present study is to extend previous research by examining specific patterns across aspects of autistic traits and sensory behaviours within both ASD and NT populations. The present study recruited 580 NT adults and 42 high-functioning ASD adults with a confirmed diagnosis to investigate the relationship between specific aspects of autistic traits and sensory processing using the subscales of the autism spectrum quotient (AQ) and adult/adolescent sensory profile (AASP). Results showed a significant relationship between all subscales except for attention to detail and imagination on the AQ and provided the first evidence that the strength and pattern of this relationship is identical between NT and ASD adults. These data also provided support for the broader autism phenotype, uncovering a clear progression of sensory atypicalities in line with an increase in autistic traits, regardless of diagnostic status, which has potential implications for the spectrum approach to ASD and how sensory behaviours across the whole of the neurotypical population are conceptualised.

Bone density, body composition, and psychopathology of anorexia nervosa spectrum disorders in DSM-IV vs DSM-5.

PubMed

Schorr, Melanie; Thomas, Jennifer J; Eddy, Kamryn T; Dichtel, Laura E; Lawson, Elizabeth A; Meenaghan, Erinne; Lederfine Paskal, Margaret; Fazeli, Pouneh K; Faje, Alexander T; Misra, Madhusmita; Klibanski, Anne; Miller, Karen K

2017-04-01

DSM-5 revised the diagnostic criteria for anorexia nervosa (AN) by eliminating the amenorrhea requirement, liberalizing weight and psychological criteria, and adding the formal diagnosis of "atypical AN" for individuals with AN psychological symptoms without low weight. We sought to determine whether bone density (BMD) is impaired in women diagnosed with AN using the new, more liberal, DSM-5 criteria. Cross-sectional study of 168 women, 18 - 45y: (1) AN by DSM-IV (DSM-IV AN) (n = 37), (2) AN by DSM-5 but not DSM-IV criteria (DSM-5 AN) (n = 33), (3) atypical AN (ATYPICAL AN) (n = 77), (4) healthy comparison group (HC) (n = 21). Measurements included dual energy X-ray absorptiometry, Eating Disorder Examination-Questionnaire, Eating Disorder Inventory-2, Hamilton Depression and Anxiety Rating Scales. BMD Z-score <-1.0 was present in 78% of DSM-IV, 82% of DSM-5, and 69% of ATYPICAL. Mean Z-scores were comparably low in DSM-IV and DSM-5, intermediate in ATYPICAL, and highest in HC. Lack of prior low weight or amenorrhea was, but history of overweight/obesity was not, protective against bone loss. Mean lean mass and percent fat mass were significantly lower in all AN groups than HC. DSM-IV, DSM-5, and ATYPICAL had comparable psychopathology. Despite liberalizing diagnostic criteria, many women diagnosed with AN and atypical AN using DSM-5 criteria have low BMD. Presence or history of low weight and/or amenorrhea remain important indications for DXA. Loss of lean mass, in addition to fat mass, is present in all AN groups, and may contribute to low BMD. The deleterious effect of eating disorders on BMD extends beyond those with current low weight and amenorrhea. © 2016 Wiley Periodicals, Inc.(Int J Eat Disord 2017; 50:343-351). © 2016 Wiley Periodicals, Inc.

Clinical outcome in patients with peripherally-sited atypical lipomatous tumours and dedifferentiated liposarcoma.

PubMed

Kalimuthu, Sangeetha N; Tilley, Charles; Forbes, Georgina; Ye, Hongtao; Lehovsky, Katie; Pillay, Nischalan; Seddon, Beatrice M; O'Donnell, Paul; Pollock, Robin; Tirabosco, Roberto; Amary, M Fernanda; Flanagan, Adrienne M

2015-04-01

The reported incidence of local recurrence of peripheral atypical lipomatous tumours is highly variable and is likely to reflect the different inclusion criteria of cases, and the design of previous studies. We aimed to study the incidence of local recurrence of 90 cases of atypical lipomatous tumours and an additional 18 cases of de novo dedifferentiated liposarcoma. All tumours were diagnosed on the basis of MDM2 amplification: all patients had their first treatment in the same specialist sarcoma unit and were followed for a minimum of 60 months. The tumours were diagnosed between 1997 and 2009 and followed until the end of 2014. Seventy cases (78%) of atypical lipomatous tumours were located in the thigh (mean size 195 mm on presentation). Eight atypical lipomatous tumours (8.9%) recurred locally, of which 50% recurred after 60 months. The only two tumours with intralesional excisions recurred. Seven of the eight recurrent tumours were detected by the patient by self-examination. One case recurred a second time as a dedifferentiated liposarcoma. Seventeen per cent of the de novo dedifferentiated liposarcomas recurred within 60 months of presentation. Extending the study period revealed that atypical lipomatous tumour could recur up to 40 years after the first surgery. Furthermore, of 26 tumours that recurred in the extended study, 27% recurred more than once, and three of the seven that recurred more than once transformed into a dedifferentiated liposarcoma. We recommend that, following post-operative wound care, patients with atypical lipomatous tumour are referred back to their general practitioner for follow up, but that in the event of a suspected recurrence they have rapid access back to the specialist unit using a 'supported discharge' scheme. In the event of an intralesional excision and if a lesion recurs, patients are followed in a specialist unit at regular intervals: whether MRI scanning is a valuable means of monitoring such patients is unclear and requires an evidence base.

Q fever community-acquired pneumonia in a patient with Crohn's disease on immunosuppressive therapy.

PubMed

Nausheen, Sara; Cunha, Burke A

2007-01-01

Community-acquired pneumonia (CAP) may be caused by typical or atypical pathogens. The three most common zoonotic atypical pathogens are Chlamydophila psittaci (psittacosis), Francisella tularensis (tularemia), and Coxiella burnetii (Q fever). Atypical CAPs are suggested by a distinctive pattern of extrapulmonary organ involvement. Zoonotic CAP may be differentiated from nonzoonotic CAP (Chlamydia pneumoniae, Mycoplasma pneumoniae, Legionnaire's disease) by a recent zoonotic vector contact history. Zoonotic atypical CAP occurs sporadically, but not randomly, and require close association with the appropriate zoonotic vector to transmit the infection. CAP accompanied by the extrapulmonary finding of splenomegaly in a normal host limits differential diagnostic possibilities to Q fever and psittacosis. Splenomegaly does not occur with other typical or atypical CAP. Another common extrapulmonary finding occurs with some atypical pneumonias, that is, Q fever, psittacosis, and Legionnaire's disease is early mild/transient elevations of serum transaminases indicative of (hepatic) extrapulmonary organ involvement. The case presented is a middle-aged man with longstanding Crohn's disease who was further immunosuppressed by chronic prednisone therapy. The patient presented with CAP and extrapulmonary findings, that is, splenomegaly and increased serum transaminases. He denied recent contact with birds or animals. Because Crohn's disease and Q fever CAP may be accompanied by splenomegaly, the cause of his splenomegaly was a diagnostic dilemma. The patient was treated with levofloxacin. Serologic tests for atypical pathogens (Q fever, psittacosis, Legionnaire's disease, C. pneumoniae, and M. pneumoniae) were ordered. Enzyme-linked immunosorbent assay serology for Q fever was positive with elevated acute immunoglobulin-M (phase II) titers. Re-questioning of the patient revealed a recent exposure to a neighbor's parturient cat, providing the necessary zoonotic vector contact history for Q fever. The patient responded to levofloxacin, which resulted in resolution of the patient's symptoms, right lower lobe pneumonia, and splenomegaly. Because a prior abdominal computed tomography scan indicated no splenomegaly and his splenomegaly resolved with antimicrobial therapy, the splenomegaly was related to Q fever CAP.

Targeting renin-angiotensin system in malignant hypertension in atypical hemolytic uremic syndrome

PubMed Central

Raghunathan, V.; Sethi, S. K.; Dragon-Durey, M. A.; Dhaliwal, M.; Raina, R.; Jha, P.; Bansal, S. B.; Kher, V.

2017-01-01

Hypertension is common in hemolytic uremic syndrome (HUS) and often difficult to control. Local renin-angiotensin activation is believed to be an important part of thrombotic microangiopathy, leading to a vicious cycle of progressive renal injury and intractable hypertension. This has been demonstrated in vitro via enhanced tissue factor expression on glomerular endothelial cells which is enhanced by angiotensin II. We report two pediatric cases of atypical HUS with severe refractory malignant hypertension, in which we targeted the renin-angiotensin system by using intravenous (IV) enalaprilat, oral aliskiren, and oral enalapril with quick and dramatic response of blood pressure. Both drugs, aliskiren and IV enalaprilat, were effective in controlling hypertension refractory to multiple antihypertensive medications. These appear to be promising alternatives in the treatment of severe atypical HUS-induced hypertension and hypertensive emergency. PMID:28356668

Optical coherence tomography findings of bilateral foveal leukemic infiltration.

PubMed

Le, John Q; Braich, Puneet S; Brar, Vikram S

2016-01-01

We report a case of a 59-year-old man with a history of atypical chronic myelogenous leukemia who presented with a several-week history of decreased vision in both eyes. His clinical examination revealed bilateral foveal infiltration, which was also demonstrated on optical coherence tomography. After a failed induction with imatinib (Gleevec(®)), he was treated with omacetaxine (Synribo(®)) with an appropriate hematologic response. As his leukemia improved with chemotherapy, his retinal lesions regressed as demonstrated by serial optical coherence tomography and fundus photographs, with near complete restoration of foveal architecture.

On the intersection of phonetic detail and the organization of interaction: clinical connections.

PubMed

Walker, Gareth; Local, John

2013-01-01

The analysis of language use in real-world contexts poses particular methodological challenges. We codify responses to these challenges as a series of methodological imperatives. To demonstrate the relevance of these imperatives to clinical investigation, we present analyses of single episodes of interaction where one participant has a speech and/or language impairment: atypical prosody, echolalia and dysarthria. We demonstrate there is considerable heuristic and analytic value in taking this approach to analysing the organization of interaction involving individuals with a speech and/or language impairment.

Symptomatic thoracic spinal cord herniation: case series and technical report.

PubMed

Hawasli, Ammar H; Ray, Wilson Z; Wright, Neill M

2014-09-01

Idiopathic spinal cord herniation (ISCH) is an uncommon condition located predominantly in the thoracic spine and often associated with a remote history of a major traumatic injury. ISCH has an incompletely described presentation and unknown etiology. There is no consensus on the treatment algorithm and surgical technique, and there are few data on clinical outcomes. In this case series and technical report, we describe the atypical myelopathy presentation, remote history of traumatic injury, radiographic progression, treatment, and outcomes of 5 patients treated at Washington University for symptomatic ISCH. A video showing surgical repair is presented. In contrast to classic compressive myelopathy symptomatology, ISCH patients presented with an atypical myelopathy, characterized by asymmetric motor and sensory deficits and early-onset urinary incontinence. Clinical deterioration correlated with progressive spinal cord displacement and herniation observed on yearly spinal imaging in a patient imaged serially because of multiple sclerosis. Finally, compared with compressive myelopathy in the thoracic spine, surgical treatment of ISCH led to rapid improvement despite a long duration of symptoms. Symptomatic ISCH presents with atypical myelopathy and slow temporal progression and can be successfully managed with surgical repair.

Pulmonary cytology in chrysotile asbestos workers

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

Kobusch, A.B.; Simard, A.; Feldstein, M.

1984-01-01

The prevalence of atypical cytology has been determined in relation to age, smoking and asbestos exposure for male workers employed in 3 mines in the Province of Quebec. Overall participation was 71%. Out of 867 participating workers, 626 (72%) presented a deep cough specimen within normal limits, 74 (8.5%) a specimen with mild atypical metaplasia and 10 (1.2%) a specimen with moderate atypical metaplasia. Four lung carcinoma were identified. Five percent of the workers initially interviewed did not return their specimen and 12.7% had unsatisfactory test results. Proportions of cellular atypical increased with age and asbestos exposure. Using logistic regressionmore » analysis, estimated probabilities of abnormal cytology for workers aged 25 years when started mining increased with both years of asbestos exposure and exposure index measured in fibres per cubic centimeter.« less

The use of the color Doppler ultrasonography in the diagnosis and monitoring of an atypical case of giant-cell arteritis.

PubMed

Martins, N; Polido-Pereira, J; Rodrigues, A M; Soares, F; Batista, P; Pereira da Silva, J A

2016-01-01

Giant Cell Arteritis (GCA) is a large vessels vasculitis that is typically characterised by headache, scalp tenderness, jaw claudication and visual disturbances. Temporal arteries color Doppler ultrasonography (CDUS) is a sensitive and non-invasive image technique used in the diagnosis of this disease. This work highlights the importance of CDUS in the diagnostic workup of GCA and also demonstrates it´s usefullness in the evaluation and documentation of the response to corticosteroids therapy in an atypical case of ACG.

[Diagnosis and treatment of heparin-induced thrombocytopenia (HIT) based on its atypical immunological features].

PubMed

Miyata, Shigeki; Maeda, Takuma

2016-03-01

Heparin-induced thrombocytopenia (HIT) is a prothrombotic side effect of heparin therapy caused by HIT antibodies, i.e., anti-platelet factor 4 (PF4)/heparin IgG with platelet-activating properties. For serological diagnosis, antigen immunoassays are commonly used worldwide. However, such assays do not indicate their platelet-activating properties, leading to low specificity for the HIT diagnosis. Therefore, over-diagnosis is currently the most serious problem associated with HIT. The detection of platelet-activating antibodies using a washed platelet activation assay is crucial for appropriate HIT diagnosis. Recent advances in our understanding of the pathogenesis of HIT include it having several clinical features atypical for an immune-mediated disease. Heparin-naïve patients can develop IgG antibodies as early as day 4, as in a secondary immune response. Evidence for an anamnestic response on heparin re-exposure is lacking. In addition, HIT antibodies are relatively short-lived, unlike those in a secondary immune response. These lines of evidence suggest that the mechanisms underlying HIT antibody formation may be compatible with a non-T cell-dependent immune reaction. These atypical clinical and serological features should be carefully considered while endeavoring to accurately diagnose HIT, which leads to appropriate therapies such as immediate administration of an alternative anticoagulant to prevent thromboembolic events and re-administration of heparin during surgery involving cardiopulmonary bypass when HIT antibodies are no longer detectable.

Prescription medication changes following direct-to-consumer personal genomic testing: findings from the Impact of Personal Genomics (PGen) Study.

PubMed

Carere, Deanna Alexis; VanderWeele, Tyler J; Vassy, Jason L; van der Wouden, Cathelijne H; Roberts, J Scott; Kraft, Peter; Green, Robert C

2017-05-01

To measure the frequency of prescription medication changes following direct-to-consumer personal genomic testing (DTC-PGT) and their association with the pharmacogenomic results received. New DTC-PGT customers were enrolled in 2012 and completed surveys prior to the return of results and 6 months after results; DTC-PGT results were linked to survey data. "Atypical response" pharmacogenomic results were defined as those indicating an increase or decrease in risk of an adverse drug event or likelihood of therapeutic benefit. At follow-up, participants reported prescription medication changes and health-care provider consultation. Follow-up data were available from 961 participants, of whom 54 (5.6%) reported changing a medication they were taking or starting a new medication due to their DTC-PGT results. Of these, 45 (83.3%) reported consulting with a health-care provider regarding the change. Pharmacogenomic results were available for 961 participants, of which 875 (91.2%) received one or more atypical response results. For each such result received, the odds of reporting a prescription medication change increased 1.57 times (95% confidence interval = 1.17, 2.11). Receipt of pharmacogenomic results indicating an atypical drug response is common with DTC-PGT and is associated with prescription medication changes; however, fewer than 1% of consumers report unsupervised changes at 6 months after testing.Genet Med advance online publication 22 September 2016.

Atypical Manifestations of Hyperthyroidism

PubMed Central

Boxall, E. A.; Lauener, R. W.; McIntosh, H. W.

1964-01-01

Patients with hyperthyroidism usually present with symptoms of hypermetabolism with or without goitre and/or eye signs. Occasionally, however, the chief complaints are not immediately suggestive of hyperthyroidism. Patients with hyperthyroidism are described who presented with such atypical manifestations as periodic muscular paralysis, myasthenia, myopathy, encephalopathy, psychosis, angina pectoris, atrial fibrillation, heart failure without underlying heart disease, skeletal demineralization, pretibial myxedema, unilateral eye signs, and pitting edema of the ankles. ImagesFig. 2Fig. 3Fig. 5Fig. 7Fig. 8Fig. 9Fig. 10 PMID:14178405

Atypical localizations of calcific deposits in the shoulder

PubMed Central

Vinanti, G.B.; Pavan, D.; Rossato, A.; Biz, Carlo

2015-01-01

Introduction Calcific tendinopathies of the shoulder are due to inflammation around deposits of calcium within periarticular tendineal structures. Presentation of cases We present three cases of atypical localization of calcium deposits in the shoulder. All of the cases have been treated with arthroscopic excision, followed by post-operative rehabilitation, regaining excellent results. Patients were evaluated 6 months after surgery using the Visual Analogue Scale (VAS), the Simple Shoulder Test (SST) and the UCLA modified shoulder rating. Discussion Calcific tendinopathy is a self-limiting condition or is successfully treated with conservative therapy especially during the early phases of the pathology. If conservative measures fail, removal of calcium deposits is recommended. Arthroscopic management showed good results in our three cases. Conclusion We suggest that arthroscopic treatment of calcific tendonitis guarantees good results even when calcium deposits are in atypical locations. PMID:25884610

Age-dependent atypicalities in body- and face-sensitive activation of the EBA and FFA in individuals with ASD.

PubMed

Okamoto, Yuko; Kosaka, Hirotaka; Kitada, Ryo; Seki, Ayumi; Tanabe, Hiroki C; Hayashi, Masamichi J; Kochiyama, Takanori; Saito, Daisuke N; Yanaka, Hisakazu T; Munesue, Toshio; Ishitobi, Makoto; Omori, Masao; Wada, Yuji; Okazawa, Hidehiko; Koeda, Tatsuya; Sadato, Norihiro

2017-06-01

Individuals with autism spectrum disorder (ASD) have difficuly in recognizing bodies and faces, which are more pronounced in children than adults. If such difficulties originate from dysfunction of the extrastriate body area (EBA) and the fusiform face area (FFA), activation in these regions might be more atypical in children than in adults. We preformed functional magnetic resonance imaging while children and adults with ASD and age-matched typically developed (TD) individuals observed face, body, car, and scene. To examine various aspects, we performed individual region of interest (ROI) analysis, as well as conventional random effect group analysis. At individual ROI analysis, we examined the ratio of participants showing a category-sensitive response, the size of regions, location and activation patterns among the four object categories. Adults with ASD showed no atypicalities in activation of the EBA and FFA, whereas children with ASD showed atypical activation in these regions. Specifically, a smaller percentage of children with ASD showed face-sensitive activation of the FFA than TD children. Moreover, the size of the EBA was smaller in children with ASD than in TD children. Our results revealed atypicalities in both the FFA and EBA in children with ASD but not in adults with ASD. Copyright © 2017 Elsevier Ireland Ltd and Japan Neuroscience Society. All rights reserved.

Syllabic patterns in typical and atypical phonological development: ultrasonographic analysis.

PubMed

Vassoler, Aline Mara de Oliveira; Berti, Larissa Cristina

2018-01-01

Objective The present study aims to compare the production of syllabic patterns of the CVC and CV types performed by Brazilian children with typical and atypical phonological development through ultrasonography of tongue. Methods Ten children (five with typical and with five atypical phonological development) recorded nine pairs of words from the syllables: CCV and CV. The images and audios were captured simultaneously by the Articulate Assistant Advanced software. The data were submitted to perceptive analysis and ultrasonographic articulatory analysis (the area between the tip and the blade of the tongue). The area measurements were submitted to one-way repeated measures ANOVA. Results ANOVA demonstrated a significant effect for the clinical condition (typical and atypical), (F (1.8) = 172.48, p> 0.000) forthe area measurements. In both syllabic patterns (CCV and CV) the atypical children showed greater values ​​of the area between the tip and the blade of the tongue. Regarding the syllabic patterns analyzed, the statistical test showed no significant effect (F (1.8)=0.19, p>0.658). Conclusion The use of a greater area of ​​the tongue by children with atypical phonological development suggests the non-differentiation of the tip and the anterior body gestures of the tongue in the production of CV and CCV.

Frequency of celiac disease in adult patients with typical or atypical malabsorption symptoms in isfahan, iran.

PubMed

Emami, Mohammad Hassan; Kouhestani, Soheila; Karimi, Somayeh; Baghaei, Abdolmahdi; Janghorbani, Mohsen; Jamali, Nahid; Gholamrezaei, Ali

2012-01-01

Aim. Atypical presentations of celiac disease (CD) have now been shown to be much more common than classical (typical) form. We evaluated the frequency of CD among adult patients with typical or atypical symptoms of CD. Materials and Methods. Patients referred to two outpatient gastroenterology clinics in Isfahan (IRAN) were categorized into those with typical or atypical symptoms of CD. IgA antitissue transglutaminase antibody was assessed and followed by duodenal biopsy. In patients for whom endoscopy was indicated (independent of the serology), duodenal biopsy was taken. Histopathological changes were assessed according to the Marsh classification. Results. During the study period, 151 and 173 patients with typical and atypical symptoms were evaluated (mean age = 32.8 ± 12.6 and 35.8 ± 14.8 years, 47.0% and 56.0% female, resp.). Frequency of CD in patients with typical and atypical symptoms was calculated, respectively, as 5.9% (9/151) and 1.25% (3/173) based on positive serology and pathology. The overall frequency was estimated as at least 9.2% (14/151) and 4.0% (7/173) when data of seronegative patients were also considered. Conclusions. CD is more frequent among patients with typical symptoms of malabsorption and these patients should undergo duodenal biopsy, irrespective of the serology. In patients with atypical symptoms, serological tests should be performed followed by endoscopic biopsy, and routine duodenal biopsy is recommended when endoscopic evaluation is indicated because of symptoms.

Lipid profile in antipsychotic drug users: A comparative study

PubMed Central

Roohafza, Hamidreza; Khani, Azam; Afshar, Hamid; Garakyaraghi, Mohammad; Amirpour, Afshin; Ghodsi, Basir

2013-01-01

BACKGROUND Schizophrenic patients who receive antipsychotic drugs may be highly prone to metabolic disorders such as weight gain, dyslipidemia, and insulin resistance. The objective of the present study was to compare the effect of atypical and conventional antipsychotics on lipid profile. METHODS 128 schizophrenic patients were enrolled into the study. Patients were divided into two groups. One group had received one type of atypical antipsychotic drug, and, the other, one type of conventional antipsychotic drug. They were considered as atypical and conventional groups. Moreover, both groups had not used any other antipsychotic drugs during the past year. Demographic data and food frequency questionnaire were completed by the participants. Serum triglyceride, total cholesterol (TC), high-density lipoprotein and low-density lipoprotein (LDL) cholesterols, and apolipoprotein A and B (Apo B) were tested by blood sample drawing after 12 hours of fasting through the antecubital vein. Student’s t-test was used to compare atypical and conventional groups. RESULTS There was no significant difference in age, gender, duration of illness, period of drug consumption, and age at onset of illness in the two groups. Patients in the atypical group used clozapine and risperidone (46.9%) more than olanzapine. In the conventional group 81.3% of patients used phenothiazines. Comparison between lipid profile in the conventional and atypical groups showed a significantly higher mean in TC (P = 0.01), LDL (P = 0.03), and Apo B (P = 0.01) in conventional group than the atypical group. CONCLUSION In schizophrenic patients, the level of lipid profile had been increased in both atypical and conventional antipsychotic users, especially conventional users, so the effect of antipsychotic drugs should be investigated periodically. PMID:23766777

Atypical Modulations of N170 Component during Emotional Processing and Their Links to Social Behaviors in Ex-combatants.

PubMed

Trujillo, Sandra P; Valencia, Stella; Trujillo, Natalia; Ugarriza, Juan E; Rodríguez, Mónica V; Rendón, Jorge; Pineda, David A; López, José D; Ibañez, Agustín; Parra, Mario A

2017-01-01

Emotional processing (EP) is crucial for the elaboration and implementation of adaptive social strategies. EP is also necessary for the expression of social cognition and behavior (SCB) patterns. It is well-known that war contexts induce socio-emotional atypical functioning, in particular for those who participate in combats. Thus, ex-combatants represent an ideal non-clinical population to explore EP modulation and to evaluate its relation with SCB. The aim of this study was to explore EP and its relation with SCB dimensions such as empathy, theory of mind and social skills in a sample of 50 subjects, of which 30 were ex-combatants from illegally armed groups in Colombia, and 20 controls without combat experience. We adapted an Emotional Recognition Task for faces and words and synchronized it with electroencephalographic recording. Ex-combatants presented with higher assertion skills and showed more pronounced brain responses to faces than Controls. They did not show the bias toward anger observed in control participants whereby the latter group was more likely to misclassify neutral faces as angry. However, ex-combatants showed an atypical word valence processing. That is, words with different emotions yielded no differences in N170 modulations. SCB variables were successfully predicted by neurocognitive variables. Our results suggest that in ex-combatants the links between EP and SCB functions are reorganized. This may reflect neurocognitive modulations associated to chronic exposure to war experiences.

Atypical Modulations of N170 Component during Emotional Processing and Their Links to Social Behaviors in Ex-combatants

PubMed Central

Trujillo, Sandra P.; Valencia, Stella; Trujillo, Natalia; Ugarriza, Juan E.; Rodríguez, Mónica V.; Rendón, Jorge; Pineda, David A.; López, José D.; Ibañez, Agustín; Parra, Mario A.

2017-01-01

Emotional processing (EP) is crucial for the elaboration and implementation of adaptive social strategies. EP is also necessary for the expression of social cognition and behavior (SCB) patterns. It is well-known that war contexts induce socio-emotional atypical functioning, in particular for those who participate in combats. Thus, ex-combatants represent an ideal non-clinical population to explore EP modulation and to evaluate its relation with SCB. The aim of this study was to explore EP and its relation with SCB dimensions such as empathy, theory of mind and social skills in a sample of 50 subjects, of which 30 were ex-combatants from illegally armed groups in Colombia, and 20 controls without combat experience. We adapted an Emotional Recognition Task for faces and words and synchronized it with electroencephalographic recording. Ex-combatants presented with higher assertion skills and showed more pronounced brain responses to faces than Controls. They did not show the bias toward anger observed in control participants whereby the latter group was more likely to misclassify neutral faces as angry. However, ex-combatants showed an atypical word valence processing. That is, words with different emotions yielded no differences in N170 modulations. SCB variables were successfully predicted by neurocognitive variables. Our results suggest that in ex-combatants the links between EP and SCB functions are reorganized. This may reflect neurocognitive modulations associated to chronic exposure to war experiences. PMID:28588462

Symptomatic Thoracic Spinal Cord Herniation: Case Series and Technical Report

PubMed Central

Hawasli, Ammar H.; Ray, Wilson Z.; Wright, Neill M.

2014-01-01

Background and Importance Idiopathic spinal cord herniation (ISCH) is an uncommon condition located predominantly in the thoracic spine and often associated with a remote history of a major traumatic injury. ISCH has an incompletely described presentation and unknown etiology. There is no consensus on treatment algorithm and surgical technique, and there is little data on clinical outcomes. Clinical Presentation In this case series and technical report, we describe the atypical myelopathy presentation, remote history of traumatic injury, radiographic progression, treatment, and outcomes of 5 patients treated at Washington University for symptomatic ISCH. A video showing surgical repair is presented. In contrast to classic compressive myelopathy symptomology, ISCH patients presented with an atypical myelopathy, characterized by asymmetric motor and sensory deficits and early-onset urinary incontinence. Clinical deterioration correlated with progressive spinal cord displacement and herniation observed on yearly spinal imaging in a patient imaged serially due to multiple sclerosis. Finally compared to compressive myelopathy in the thoracic spine, surgical treatment of ISH led to rapid improvement despite long duration of symptoms. Conclusion Symptomatic ISCH presents with atypical myelopathy and slow temporal progression and can be successfully managed with surgical repair. PMID:24871148

A case of atypical Bartonella henselae infection in a patient with methimazole-induced agranulocytosis

PubMed Central

Kaysin, Alexander; Viera, Anthony J

2015-01-01

Antithyroid medications such as methimazole and propylthiouracil are commonly used to treat hyperthyroid disorders. Thionamide-induced agranulocytosis is a rare but life-threatening potential side effect of these medicines. In addition to routine monitoring of blood counts, healthcare workers caring for patients on such medication need to be mindful of atypical presentations of acute agranulocytosis throughout the treatment course. The manifestations of underlying infectious aetiologies can be mistaken for more common illness and result in delayed diagnosis. We present a case of a 41-year-old woman receiving methimazole for Grave's disease, who presented to outpatient care with high fever, pharyngitis, lymphadenopathy and jaundice. After failing to respond to empiric antibiotics, a diagnosis of neutropenia was made and the patient was admitted for inpatient care with eventual recovery following a course of granulocyte colony-stimulating factor. A diagnosis of atypical Bartonella henselae was eventually made and treated appropriately. The patient was later discharged and underwent radioactive iodine ablation. PMID:26315358

Case report of narcolepsy in a six-year-old child initially misdiagnosed as atypical epilepsy

PubMed Central

ZHOU, Jinquan; ZHANG, Xi; DONG, Zaiwen

2014-01-01

Summary This report describes a case of first-onset narcolepsy in a six-year-old female that was misdiagnosed as atypical epilepsy and other diagnoses at eight different hospitals over a period of 10 months before the correct diagnosis was made. The diagnosis of narcolepsy is more difficult in children because very few of them experience all four cardinal symptoms of narcolepsy – paroxysmal sleep, cataplexy, hypnagogic hallucination, and sleep paralysis – and they often have a more prolonged onset and diverse symptoms. To decrease the time lag between initial presentation and accurate diagnosis, we recommend that in all cases in which children report excessive sleep of unknown etiology – regardless of the associated symptoms – that sleep monitoring and sleep latency tests be conducted to rule out the possibility of narcolepsy. The case highlights the wide variety of presentations of uncommon psychiatric conditions, particularly in children, and the need for clinicians to be aware of the atypical presentations of these conditions when collecting medical histories. PMID:25317010

Case report of narcolepsy in a six-year-old child initially misdiagnosed as atypical epilepsy.

PubMed

Zhou, Jinquan; Zhang, Xi; Dong, Zaiwen

2014-08-01

This report describes a case of first-onset narcolepsy in a six-year-old female that was misdiagnosed as atypical epilepsy and other diagnoses at eight different hospitals over a period of 10 months before the correct diagnosis was made. The diagnosis of narcolepsy is more difficult in children because very few of them experience all four cardinal symptoms of narcolepsy - paroxysmal sleep, cataplexy, hypnagogic hallucination, and sleep paralysis - and they often have a more prolonged onset and diverse symptoms. To decrease the time lag between initial presentation and accurate diagnosis, we recommend that in all cases in which children report excessive sleep of unknown etiology - regardless of the associated symptoms - that sleep monitoring and sleep latency tests be conducted to rule out the possibility of narcolepsy. The case highlights the wide variety of presentations of uncommon psychiatric conditions, particularly in children, and the need for clinicians to be aware of the atypical presentations of these conditions when collecting medical histories.

Tumor-induced osteomalacia (TIO): atypical presentation.

PubMed

Khaliq, Waseem; Cheripalli, Praveen; Tangella, Krishnarao

2011-05-01

Tumor-induced osteomalacia is a rare acquired condition characterized by phosphaturia, hypophosphatemia and osteomalacia. We report an unusual presentation in a 15-year-old healthy male with a two-week history of cough and chest pain. The chest radiograph showed right middle lobe opacity and chest CT revealed a mass in the extra pleural space. A biopsy showed chondro-myxoidstroma with osteoid formation. Diagnosis was confirmed with the above findings and hypophosphatemia. The patient's symptoms resolved after complete surgical excision of the mass. Tumor-induced osteomalacia, although a rare disorder, can be a diagnostic challenge, especially in patients presenting with atypical symptoms.

Photoletter to the editor: Atypical primary cutaneous mucormycosis of the scalp.

PubMed

García-Sepúlveda, Ricardo; Navarrete-Solís, Josefina; Villanueva-Lozano, Hiram; de J Treviño-Rangel, Rogelio; González, Gloria M; Enríquez-Rojas, Jorge; Molina-Durazo, Javier; Arenas-Guzmán, Roberto

2017-12-01

Mucormycosis of the scalp is a rare cutaneous presentation of the disease. It is also an unusual infection in children. We present the case of a 4-year-old girl with acute lymphoblastic leukemia, who presented with atypical cutaneous mucormycosis simulating an ecthyma gangrenosum lesion. Risk factors for the infection are diabetes, neoplastic diseases, immunosuppression in organ transplant recipients, and neutropenia. The cutaneos forms have been associated with trauma, burns and surgical wounds. First line treatment is amphotericin B. Posaconazole was recently approved to treat invasive mucormycosis. Surgical removal of the infected tissue is indicated.

Pupillary Response and Phenotype in ASD: Latency to Constriction Discriminates ASD from Typically Developing Adolescents.

PubMed

Lynch, Georgina T F; James, Stephen M; VanDam, Mark

2018-02-01

Brain imaging data describe differences in the ASD brain, including amygdala overgrowth, neural interconnectivity, and a three-phase model of neuroanatomical changes from early post-natal development through late adolescence. The pupil reflex test (PRT), a noninvasive measure of brain function, may help improve early diagnosis and elucidate underlying physiology in expression of ASD endophenotype. Commonly observed characteristics of ASD include normal visual acuity but difficulty with eye gaze and photosensitivity, suggesting deficient neuromodulation of cranial nerves. Aims of this study were to confirm sensitivity of the PRT for identifying adolescents with ASD, determine if a phenotype for a subtype of ASD marked by pupil response is present in adolescence, and determine whether differences could be observed on a neurologic exam testing cranial nerves II and III (CNII; CNIII). Using pupillometry, constriction latency was measured serving as a proxy for recording neuromodulation of cranial nerves underlying the pupillary reflex. The swinging flashlight method, used to perform the PRT for measuring constriction latency and return to baseline, discriminated ASD participants from typically developing adolescents on 72.2% of trials. Results further confirmed this measure's sensitivity within a subtype of ASD in later stages of development, serving as a correlate of neural activity within the locus-coeruleus norepinephrine (LC-NE) system. A brainstem model of atypical PRT in ASD is examined in relation to modulation of cranial nerves and atypical arousal levels subserving the atypical pupillary reflex. Autism Res 2018, 11: 364-375. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Milder forms of autism spectrum disorder (ASD) can be difficult to diagnose based on behavioral testing alone. This study used eye-tracking equipment and a hand-held penlight to measure the pupil reflex in adolescents with "high functioning" ASD and in adolescents without ASD. The ASD group showed a delay in pupil response. This is the first eye-tracking study to conduct this test as typically performed by a clinical provider, demonstrating differences in older individuals with a subtype of ASD. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

An electronic medical record-based intervention to improve quality of care for gastro-esophageal reflux disease (GERD) and atypical presentations of GERD.

PubMed

Player, Marty S; Gill, James M; Mainous, Arch G; Everett, Charles J; Koopman, Richelle J; Diamond, James J; Lieberman, Michael I; Chen, Ying Xia

2010-01-01

Gastro-esophageal reflux disease (GERD) is common in primary care but is often underdiagnosed and untreated. GERD can also present with atypical symptoms like chronic cough and asthma, and physicians may be unaware of this presentation. We aimed to implement and evaluate an intervention to improve diagnosis and treatment for GERD and atypical GERD in primary care. This was a randomised controlled trial in primary care office practice using a national network of US practices (the Medical Quality Improvement Consortium - MQIC) that share the same electronic medical record (EMR). Thirteen offices with 53 providers were randomised to the intervention of EMR-based prompts and education, and 14 offices with 66 providers were randomised to the control group totalling over 67 000 patients and examining outcomes of GERD diagnosis and appropriate treatment. Among patients who did not have GERD at baseline, new diagnoses of GERD increased significantly in the intervention group (3.1%) versus the control group (2.3%) (P<0.01). This remained significant after controlling for clustering with an odds of diagnosis of 1.33 (95% CI 1.13-1.56) for the intervention group. For patients with atypical symptoms, those in the intervention group had both higher odds of being diagnosed with GERD (OR 2.02, 95% CI 1.41-2.88) and of being treated for GERD (OR 1.40, 95% CI 1.08-1.83) than those in the control group. GERD diagnosis and treatment in primary care, particularly among patients with atypical symptoms, can be improved through the use of an EMR-based tool incorporating decision support and education. However, significant room for improvement exists in use of appropriate treatment.

F45. THE EFFICACY AND SAFETY OF BLONASERIN AFTER SWITCHING FROM OTHER ATYPICAL ANTIPSYCHOTICS IN SCHIZOPHRENIC INPATIENTS: AN OPEN-LABEL, MULTI-CENTER TRIAL

PubMed Central

Yoon, Bo-Hyun; Bahk, Won-Myong; Kwon, Young Joon; Lee, Sang-Yeol; Lee, Kwanghun; Kim, Moon Doo; Park, Sung-Yong; Song, Min-Kyu

2018-01-01

Abstract Background The aim of this study was to investigate the efficacy and safety of blonanserin treatment after switching from other atypical antipsychotics in schizophrenic inpatients who showed inadequate efficacy and poor tolerability. Methods A total of 63 schizophrenic inpatients (inadequate response group=45 and poor tolerability group=18) were included in this study. They were already treated with atypical antipsychotics except blonanserin and not favored due to inadequate responses or intolerable adverse effects. Blonanserin was administered during 12 weeks after switching from their previous antispsychotics. Treatment response was evaluated with Brief Psychiatric Rating Scale (BPRS) and CGI-S, and safety profile were measured with Abnormal Involuntary Movement Scale (AIMS), Simpson-Angus Extrapyramidal Side effects Scale (SAR)S and Barnes Akathisia Rating Scale (BARS). Drug Attitude Inventory (DAI-10) and Subjective Well-being Under Neuroleptic Treatment (SWN) were used for subjective estimates. Assessments were done at baseline, 1, 2, 4, 8 and 12 weeks after blonanserin treatment. Repeated measures of ANOVA were done to analyze the group (inadequate vs. intolerable group) and time effects. Results CGI and BPRS were showed significant treatment responses after switching to Blonaserin. Time effects were significant at 2, 4, 8, 12 weeks after switching and group by time effect were also significant at that time. Mean changes of AIMS, SARS and BARS scores were not significant throughout test trial. Although SWN was significantly improved after switching to Blonaserin, it was not found significant group by time effect. Discussion The results suggest that blonanserin may be effective and well tolerable in schizophrenic patients who showed inadequate treatment response or poor tolerability.

Atypical postcesarean epithelioid trophoblastic lesion with cyst formation: a case report and literature review.

PubMed

Zhou, Feng; Lin, Kaiqing; Shi, Haiyan; Qin, Jiale; Lu, Bingjian; Huang, Lili

2015-07-01

We report an extremely rare case of atypical postcesarean epithelioid trophoblastic lesion with cyst formation. A 41-year-old Chinese woman presented with lower abdominal pain and menstrual disorder. Her serum human chorionic gonadotropin (hCG) was low (0.373 IU/L), and her urine hCG was negative. Ultrasound images showed a 3.7×2.8×2.5 cm(3) mass on the surface of the lower uterine segment, and a laparoscopy indicated a cystic mass in the serosal surface of the lower uterine segment. Histology indicated a cystic lesion consisting of epithelioid trophoblastic cells with an intermediate pattern between a classical placental site nodule and an epithelioid trophoblastic tumor; thus, the term atypical postcesarean epithelioid trophoblastic lesion with cyst formation was appropriate. As in atypical placental site nodule, serum hCG monitoring after treatment is necessary. Copyright © 2015. Published by Elsevier Inc.

[Atypical antipsychotic-induced weight gain].

PubMed

Godlewska, Beata R; Olajossy-Hilkesberger, Luiza; Marmurowska-Michałowska, Halina; Olajossy, Marcin; Landowski, Jerzy

2006-01-01

Introduction of a new group of antipsychotic drugs, called atypical because of the proprieties differing them from classical neuroleptics, gave hope for the beginning of a new era in treatment of psychoses, including schizophrenia. Different mechanisms of action not only resulted in a broader spectrum of action and high efficacy but also in a relative lack of extrapiramidal symptoms. However, atypical neuroleptics are not totally free from adverse effects. Symptoms such as sedation, metabolic changes and weight gain, often very quick and severe - present also in the case of classical drugs, but put to the background by extrapiramidal symptoms--have become prominent. Weight gain is important both from the clinical and subjective point of view--as associated with serious somatic consequences and as a source of enormous mental distress. These problems are addressed in this review, with the focus on weight gain associated with the use of specific atypical neuroleptics.

Autism, Attention, and Alpha Oscillations: An Electrophysiological Study of Attentional Capture.

PubMed

Keehn, Brandon; Westerfield, Marissa; Müller, Ralph-Axel; Townsend, Jeanne

2017-09-01

Autism spectrum disorder (ASD) is associated with deficits in adaptively orienting attention to behaviorally-relevant information. Neural oscillatory activity plays a key role in brain function and provides a high-resolution temporal marker of attention dynamics. Alpha band (8-12 Hz) activity is associated with both selecting task-relevant stimuli and filtering task-irrelevant information. The present study used electroencephalography (EEG) to examine alpha-band oscillatory activity associated with attentional capture in nineteen children with ASD and twenty-one age- and IQ-matched typically developing (TD) children. Participants completed a rapid serial visual presentation paradigm designed to investigate responses to behaviorally-relevant targets and contingent attention capture by task-irrelevant distractors, which either did or did not share a behaviorally-relevant feature. Participants also completed six minutes of eyes-open resting EEG. In contrast to their TD peers, children with ASD did not evidence posterior alpha desynchronization to behaviorally-relevant targets. Additionally, reduced target-related desynchronization and poorer target detection were associated with increased ASD symptomatology. TD children also showed behavioral and electrophysiological evidence of contingent attention capture, whereas children with ASD showed no behavioral facilitation or alpha desynchronization to distractors that shared a task-relevant feature. Lastly, children with ASD had significantly decreased resting alpha power, and for all participants increased resting alpha levels were associated with greater task-related alpha desynchronization. These results suggest that in ASD under-responsivity and impairments in orienting to salient events within their environment are reflected by atypical EEG oscillatory neurodynamics, which may signify atypical arousal levels and/or an excitatory/inhibitory imbalance.

Early alterations of social brain networks in young children with autism

PubMed Central

Kojovic, Nada; Rihs, Tonia Anahi; Jan, Reem Kais; Franchini, Martina; Plomp, Gijs; Vulliemoz, Serge; Eliez, Stephan; Michel, Christoph Martin; Schaer, Marie

2018-01-01

Social impairments are a hallmark of Autism Spectrum Disorders (ASD), but empirical evidence for early brain network alterations in response to social stimuli is scant in ASD. We recorded the gaze patterns and brain activity of toddlers with ASD and their typically developing peers while they explored dynamic social scenes. Directed functional connectivity analyses based on electrical source imaging revealed frequency specific network atypicalities in the theta and alpha frequency bands, manifesting as alterations in both the driving and the connections from key nodes of the social brain associated with autism. Analyses of brain-behavioural relationships within the ASD group suggested that compensatory mechanisms from dorsomedial frontal, inferior temporal and insular cortical regions were associated with less atypical gaze patterns and lower clinical impairment. Our results provide strong evidence that directed functional connectivity alterations of social brain networks is a core component of atypical brain development at early stages of ASD. PMID:29482718

Quality of life and response of negative symptoms in schizophrenia to haloperidol and the atypical antipsychotic remoxipride. The Canadian Remoxipride Group.

PubMed

Awad, A G; Lapierre, Y D; Angus, C; Rylander, A

1997-07-01

In a large, multicenter, double-blind study of the effect of haloperidol and the atypical antipsychotic remoxipride on improvement of negative symptoms in schizophrenia, quality of life was also assessed using a modified version of the Sickness Impact Profile (SIP). Compared with previous studies, this study had a longer duration (28 weeks), and the dose of the comparator, haloperidol, was much lower. At the end of the study, compared with the baseline, both treatment groups reported comparable improvement in negative symptoms as defined by the protocol (at least 20% improvement). Similarly, both groups showed comparable changes on global and multidimensional self-assessments of quality of life. All the subfactors of the modified version of the SIP were similar in both groups, except for the subfactor that relates to alertness behavior, which possibly reflects remoxipride's lack of any sedating properties compared with haloperidol. This study presents an approach for inclusion of quality of life as an outcome measure in the design of clinical trials of new antipsychotic medications.

Attenuated Auditory Event-Related Potentials and Associations with Atypical Sensory Response Patterns in Children with Autism

ERIC Educational Resources Information Center

Donkers, Franc C. L.; Schipul, Sarah E.; Baranek, Grace T.; Cleary, Katherine M.; Willoughby, Michael T.; Evans, Anna M.; Bulluck, John C.; Lovmo, Jeanne E.; Belger, Aysenil

2015-01-01

Neurobiological underpinnings of unusual sensory features in individuals with autism are unknown. Event-related potentials elicited by task-irrelevant sounds were used to elucidate neural correlates of auditory processing and associations with three common sensory response patterns (hyperresponsiveness; hyporesponsiveness; sensory seeking).…

Harmonic Domains and Synchronization in Typically and Atypically Developing Hebrew-Speaking Children

ERIC Educational Resources Information Center

Bat-El, Outi

2009-01-01

This paper presents a comparative study of typical and atypical consonant harmony (onset-onset place harmony), with emphasis on (i) the size of the harmonic domain, (ii) the position of the harmonic domain within the prosodic word, and (iii) the maximal size of the prosodic word that exhibits consonant harmony. The data, drawn from typically and…

Atypical Clinical Manifestations of Graves' Disease: An Analysis in Depth

PubMed Central

Hegazi, Mohamed Osama; Ahmed, Sherif

2012-01-01

Over the past few decades, there has been an increase in the number of reports about newly recognized (atypical or unusual) manifestations of Graves' disease (GD), that are related to various body systems. One of these manifestations is sometimes the main presenting feature of GD. Some of the atypical manifestations are specifically related to GD, while others are also similarly seen in patients with other forms of hyperthyroidism. Lack of knowledge of the association between these findings and GD may lead to delay in diagnosis, misdiagnosis, or unnecessary investigations. The atypical clinical presentations of GD include anemia, vomiting, jaundice, and right heart failure. There is one type of anemia that is not explained by any of the known etiological factors and responds well to hyperthyroidism treatment. This type of anemia resembles anemia of chronic disease and may be termed GD anemia. Other forms of anemia that are associated with GD include pernicious anemia, iron deficiency anemia of celiac disease, and autoimmune hemolytic anemia. Vomiting has been reported as a presenting feature of Graves' disease. Some cases had the typical findings of hyperthyroidism initially masked, and the vomiting did not improve until hyperthyroidism has been detected and treated. Hyperthyroidism may present with jaundice, and on the other hand, deep jaundice may develop with the onset of overt hyperthyroidism in previously compensated chronic liver disease patients. Pulmonary hypertension is reported to be associated with GD and to respond to its treatment. GD-related pulmonary hypertension may be so severe to produce isolated right-sided heart failure that is occasionally found as the presenting manifestation of GD. PMID:22132347

Touch Processing and Social Behavior in ASD.

PubMed

O Miguel, Helga; Sampaio, Adriana; Martínez-Regueiro, Rocío; Gómez-Guerrero, Lorena; López-Dóriga, Cristina Gutiérrez; Gómez, Sonia; Carracedo, Ángel; Fernández-Prieto, Montse

2017-08-01

Abnormal patterns of touch processing have been linked to core symptoms in ASD. This study examined the relation between tactile processing patterns and social problems in 44 children and adolescents with ASD, aged 6-14 (M = 8.39 ± 2.35). Multiple linear regression indicated significant associations between touch processing and social problems. No such relationships were found for social problems and autism severity. Within touch processing, patterns of hyper-responsiveness and hypo-responsiveness best predicted social problems, whereas sensory-seeking did not. These results support that atypical touch processing in individuals with ASD might be contributing to the social problems they present. Moreover, it the need to explore more in depth the contribution of sensory features to the ASD phenotype.

Nano- and microparticles as adjuvants in vaccine design: success and failure is related to host natural antibodies.

PubMed

Sinyakov, Michael S; Dror, Moti; Lublin-Tennenbaum, Tammy; Salzberg, Samuel; Margel, Shlomo; Avtalion, Ramy R

2006-10-30

Bovine serum albumin (BSA) and the surface A-layer protein (AP) of an atypical strain of fish bacterial pathogen Aeromonas salmonicida were covalently linked with polymeric nano- and microparticles, and antigenicity of the resulted conjugates was compared in mice and goldfish. Distinct albeit different levels of natural BSA and AP antibodies were present in both animal species. Significant stimulation of the anti-AP antibody response in mice strikingly contrasted to unresponsiveness or even suppression in fish. The results negatively correlate with the levels of respective natural antibodies in the host and are discussed in context of problems related to fish vaccination. The work reinforces the instructive role of natural antibodies in adaptive immune response.

Diffusion of Cd and Te adatoms on CdTe(111) surfaces: A computational study using density functional theory

NASA Astrophysics Data System (ADS)

Naderi, Ebadollah; Nanavati, Sachin; Majumder, Chiranjib; Ghaisas, S. V.

2015-01-01

CdTe is one of the most promising semiconductor for thin-film based solar cells. Here we report a computational study of Cd and Te adatom diffusion on the CdTe (111) A-type (Cd terminated) and B-type (Te terminated) surfaces and their migration paths. The atomic and electronic structure calculations are performed under the DFT formalism and climbing Nudge Elastic Band (cNEB) method has been applied to evaluate the potential barrier of the Te and Cd diffusion. In general the minimum energy site on the surface is labeled as Aa site. In case of Te and Cd on B-type surface, the sub-surface site (a site just below the top surface) is very close in energy to the A site. This is responsible for the subsurface accumulation of adatoms and therefore, expected to influence the defect formation during growth. The diffusion process of adatoms is considered from Aa (occupied) to Aa (empty) site at the nearest distance. We have explored three possible migration paths for the adatom diffusion. The adatom surface interaction is highly dependent on the type of the surface. Typically, Te interaction with both type (5.2 eV for A-type and 3.8 eV for B-type) is stronger than Cd interactions(2.4 eV for B-type and 0.39 eV for A-type). Cd interaction with the A-type surface is very weak. The distinct behavior of the A-type and B-type surfaces perceived in our study explain the need of maintaining the A-type surface during growth for smooth and stoichiometric growth.

Herpes simplex encephalitis presenting as stroke-like symptoms with atypical MRI findings and lacking cerebrospinal fluid pleocytosis.

PubMed

Tsuboguchi, Shintaro; Wakasugi, Takahiro; Umeda, Yoshitaka; Umeda, Maiko; Oyake, Mutsuo; Fujita, Nobuya

2017-07-29

A 73-year-old woman presented with sudden onset of right hemiparesis and was diagnosed as having cerebral infarction on the basis of diffusion-weighted brain MRI, which demonstrated lesions in the left parietal cortex. On the 3rd day, the patient developed right upper limb myoclonus, aphasia, and disturbance of consciousness with high fever. On the 6th day, she was transferred to our hospital with suspected viral encephalitis, and treatment with acyclovir was started. By the 6th day, the lesions detected by MRI had expanded to the gyrus cinguli, insula and thalamus, but not to the temporal lobe. At that time, the CSF cell count was 8/μl, and this later increased to 17/μl by the 13th day. Although herpes simplex virus DNA was detected in the CSF on the 6th day, there was no evidence of CSF pleocytosis or temporal lobe abnormalities demonstrable by brain MRI throughout the whole follow-up period. This was very atypical case of herpes simplex encephalitis characterized by a stroke-like episode, atypical MRI findings, and absence of cerebrospinal fluid pleocytosis. It is important to be mindful that herpes simplex encephalitis (HSE) can have an atypical presentation, and that sufficient acyclovir treatment should be initiated until HSE can be ruled out.

Pathological fracture of the patella due to an atypical located aneurysmal bone cyst: verification by means of ultrasound-guided biopsy.

PubMed

Plaikner, Michaela; Gruber, Hannes; Henninger, Benjamin; Gruber, Leonhard; Kosiol, Juana; Loizides, Alexander

2016-03-01

We report on a rare case of an atypical located aneurysmal bone cyst (ABC) in the patella presenting with pathological fracture after trauma. Using all available diagnostic modalities and by means of ultrasound-guided core-needle biopsy an unclear and suspected pathological fractured cystic bone lesion in the patella of a young man could be further clarified. The acquired images suggested the diagnosis of a pathological fractured aneurysmal bone cyst after mild trauma. However, due to the extraordinary location and clinical presentation the diagnosis was secured by means of ultrasound-guided biopsy through a small cortical gap. As shown in this rare case of an atypical aneurysmal bone cyst of the patella, the quite seldom but sometimes possible ultrasound-guided biopsy of intraosseous lesions can help to achieve the diagnostic clarification and should also be taken into account as a non-standard procedure.

MMPI-2 Item Endorsements in Dissociative Identity Disorder vs. Simulators.

PubMed

Brand, Bethany L; Chasson, Gregory S; Palermo, Cori A; Donato, Frank M; Rhodes, Kyle P; Voorhees, Emily F

2016-03-01

Elevated scores on some MMPI-2 (Minnesota Multiphasic Inventory-2) validity scales are common among patients with dissociative identity disorder (DID), which raises questions about the validity of their responses. Such patients show elevated scores on atypical answers (F), F-psychopathology (Fp), atypical answers in the second half of the test (FB), schizophrenia (Sc), and depression (D) scales, with Fp showing the greatest utility in distinguishing them from coached and uncoached DID simulators. In the current study, we investigated the items on the MMPI-2 F, Fp, FB, Sc, and D scales that were most and least commonly endorsed by participants with DID in our 2014 study and compared these responses with those of coached and uncoached DID simulators. The comparisons revealed that patients with DID most frequently endorsed items related to dissociation, trauma, depression, fearfulness, conflict within family, and self-destructiveness. The coached group more successfully imitated item endorsements of the DID group than did the uncoached group. However, both simulating groups, especially the uncoached group, frequently endorsed items that were uncommonly endorsed by the DID group. The uncoached group endorsed items consistent with popular media portrayals of people with DID being violent, delusional, and unlawful. These results suggest that item endorsement patterns can provide useful information to clinicians making determinations about whether an individual is presenting with DID or feigning. © 2016 American Academy of Psychiatry and the Law.

Trait-level temporal lobe hypoactivation to social exclusion in unaffected siblings of children and adolescents with autism spectrum disorders.

PubMed

Bolling, Danielle Z; Pelphrey, Kevin A; Vander Wyk, Brent C

2015-06-01

Social exclusion elicits powerful feelings of negative affect associated with rejection. Additionally, experiencing social exclusion reliably recruits neural circuitry associated with emotion processing. Recent work has demonstrated abnormal neural responses to social exclusion in children and adolescents with autism spectrum disorders (ASD). However, it remains unknown to what extent these abnormalities are due to atypical social experiences versus genetic predispositions to atypical neural processing. To address this question, the current study investigated brain responses to social exclusion compared to a baseline condition of fair play in unaffected siblings of youth with ASD using functional magnetic resonance imaging. We identified common deviations between unaffected siblings and ASD probands that might represent trait-level abnormalities in processing Social Exclusion vs. Fair Play, specifically in the right anterior temporoparietal junction extending into posterior superior temporal sulcus. Thus, hypoactivation to Social Exclusion vs. Fair Play in this region may represent a shared genetic vulnerability to developing autism. In addition, we present evidence supporting the idea that one's status as an unaffected sibling moderates the relationship between IQ and neural activation to Social Exclusion vs. Fair Play in anterior cingulate cortex. These results are discussed in the context of previous literature on neural endophenotypes of autism. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

Primary intraosseous atypical inflammatory meningioma presenting as a lytic skull lesion: Case report with review of literature.

PubMed

Bohara, Sangita; Agarwal, Swapnil; Khurana, Nita; Pandey, P N

2016-01-01

Primary extradural meningiomas of the skull comprise 1% of all meningiomas, and lytic skull meningiomas are still rarer and are said to be more aggressive. We present a case of 38-year-old male with an extradural tumor which on histopathological examination showed features of inflammatory atypical meningioma (WHO Grade II). The intense inflammatory nature of osteolytic primary intraosseous meningioma has not been reported before. This entity deserves special mention because of the need for adjuvant therapy and proper follow-up.

Classical and atypical agonists activate M1 muscarinic acetylcholine receptors through common mechanisms.

PubMed

Randáková, Alena; Dolejší, Eva; Rudajev, Vladimír; Zimčík, Pavel; Doležal, Vladimír; El-Fakahany, Esam E; Jakubík, Jan

2015-07-01

We mutated key amino acids of the human variant of the M1 muscarinic receptor that target ligand binding, receptor activation, and receptor-G protein interaction. We compared the effects of these mutations on the action of two atypical M1 functionally preferring agonists (N-desmethylclozapine and xanomeline) and two classical non-selective orthosteric agonists (carbachol and oxotremorine). Mutations of D105 in the orthosteric binding site and mutation of D99 located out of the orthosteric binding site decreased affinity of all tested agonists that was translated as a decrease in potency in accumulation of inositol phosphates and intracellular calcium mobilization. Mutation of D105 decreased the potency of the atypical agonist xanomeline more than that of the classical agonists carbachol and oxotremorine. Mutation of the residues involved in receptor activation (D71) and coupling to G-proteins (R123) completely abolished the functional responses to both classical and atypical agonists. Our data show that both classical and atypical agonists activate hM1 receptors by the same molecular switch that involves D71 in the second transmembrane helix. The principal difference among the studied agonists is rather in the way they interact with D105 in the orthosteric binding site. Furthermore, our data demonstrate a key role of D105 in xanomeline wash-resistant binding and persistent activation of hM1 by wash-resistant xanomeline. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

Chemical profiling of guarana seeds (Paullinia cupana) from different geographical origins using UPLC-QTOF-MS combined with chemometrics.

PubMed

da Silva, Givaldo Souza; Canuto, Kirley Marques; Ribeiro, Paulo Riceli Vasconcelos; de Brito, Edy Sousa; Nascimento, Madson Moreira; Zocolo, Guilherme Julião; Coutinho, Janclei Pereira; de Jesus, Raildo Mota

2017-12-01

Paullinia cupana, commonly known as guarana, is an Amazonian fruit whose seeds are used to produce the powdered guarana, which is rich in caffeine and consumed for its stimulating activity. The metabolic profile of guarana from the two largest producing regions was investigated using UPLC-MS combined with multivariate statistical analysis. The principal component analysis (PCA) showed significant differences between samples produced in the states of Bahia and Amazonas. The metabolites responsible for the differentiation were identified by orthogonal partial least squares discriminant analysis (OPLS-DA). Fourteen phenolic compounds were characterized in guarana powder samples, and catechin, epicatechin, B-type procyanidin dimer, A-type procyanidin trimer and A-type procyanidin dimer were the main compounds responsible for the geographical variation of the samples. Copyright © 2017. Published by Elsevier Ltd.

Optical coherence tomography findings of bilateral foveal leukemic infiltration

PubMed Central

Le, John Q; Braich, Puneet S; Brar, Vikram S

2016-01-01

We report a case of a 59-year-old man with a history of atypical chronic myelogenous leukemia who presented with a several-week history of decreased vision in both eyes. His clinical examination revealed bilateral foveal infiltration, which was also demonstrated on optical coherence tomography. After a failed induction with imatinib (Gleevec®), he was treated with omacetaxine (Synribo®) with an appropriate hematologic response. As his leukemia improved with chemotherapy, his retinal lesions regressed as demonstrated by serial optical coherence tomography and fundus photographs, with near complete restoration of foveal architecture. PMID:27540313

Clinical studies of pigmented lesions in human skin by using a multiphoton tomograph

NASA Astrophysics Data System (ADS)

Balu, Mihaela; Kelly, Kristen M.; Zachary, Christopher B.; Harris, Ronald M.; Krasieva, Tatiana B.; König, Karsten; Tromberg, Bruce J.

2013-02-01

In vivo imaging of pigmented lesions in human skin was performed with a clinical multiphoton microscopy (MPM)-based tomograph (MPTflex, JenLab, Germany). Two-photon excited fluorescence was used for visualizing endogenous fluorophores such as NADH/FAD, keratin, melanin in the epidermal cells and elastin fibers in the dermis. Collagen fibers were imaged by second harmonic generation. Our study involved in vivo imaging of benign melanocytic nevi, atypical nevi and melanoma. The goal of this preliminary study was to identify in vivo the characteristic features and their frequency in pigmented lesions at different stages (benign, atypical and malignant) and to evaluate the ability of in vivo MPM to distinguish atypical nevi from melanoma. Comparison with histopathology was performed for the biopsied lesions. Benign melanocytic nevi were characterized by the presence of nevus cell nests at the epidermal-dermal junction. In atypical nevi, features such as lentiginous hyperplasia, acanthosis and architectural disorder were imaged. Cytological atypia was present in all the melanoma lesions imaged, showing the strongest correlation with malignancy. The MPM images demonstrated very good correlation with corresponding histological images, suggesting that MPM could be a promising tool for in vivo non-invasive pigmented lesion diagnosis, particularly distinguishing atypical nevi from melanoma.

Cardiovascular and Affective Responses to Social Stress in Adolescents with Internalizing and Externalizing Problems

ERIC Educational Resources Information Center

Hastings, Paul D.; Zahn-Waxler, Carolyn; Usher, Barbara A.

2007-01-01

Behavioral responses to stress and challenge are based in emotional and physiological arousal reactions. Adolescents with maladaptive or problematic behavior patterns, such as internalizing or externalizing problems, are likely to show atypical emotional and physiological reactions to stress. Relations between problems and reactions to stress were…

Intact brain processing of musical emotions in autism spectrum disorder, but more cognitive load and arousal in happy vs. sad music.

PubMed

Gebauer, Line; Skewes, Joshua; Westphael, Gitte; Heaton, Pamela; Vuust, Peter

2014-01-01

Music is a potent source for eliciting emotions, but not everybody experience emotions in the same way. Individuals with autism spectrum disorder (ASD) show difficulties with social and emotional cognition. Impairments in emotion recognition are widely studied in ASD, and have been associated with atypical brain activation in response to emotional expressions in faces and speech. Whether these impairments and atypical brain responses generalize to other domains, such as emotional processing of music, is less clear. Using functional magnetic resonance imaging, we investigated neural correlates of emotion recognition in music in high-functioning adults with ASD and neurotypical adults. Both groups engaged similar neural networks during processing of emotional music, and individuals with ASD rated emotional music comparable to the group of neurotypical individuals. However, in the ASD group, increased activity in response to happy compared to sad music was observed in dorsolateral prefrontal regions and in the rolandic operculum/insula, and we propose that this reflects increased cognitive processing and physiological arousal in response to emotional musical stimuli in this group.

The impact of environmental stressors and types of work contract on occupational stress.

PubMed

Corrêa, Ana Paula; Ferreira, Maria Cristina

2011-05-01

This study aimed to investigate the impact of seven environmental stressors (role conflict, work overload, interpersonal difficulties, work-family conflict, work instability, lack of autonomy and pressure of responsibility) and the nature of the employment contract (permanent or atypical) on three psychological reactions to occupational stress (job satisfaction, positive emotions, and negative emotions at work). 305 Brazilian workers from both sexes participated in this research, distributed between permanent and atypical workers. The results showed that the role conflict and the work overload had a negative impact on job satisfaction. The role conflict had a negative impact on the positive emotions at work, while the pressure of responsibility interfered positively in it. The work overload interfered positively in the negative emotions at work, while the pressure of responsibility interfered negatively in it. The type of contract did not affect significantly any one of the dependent variables. The implications of the results for future research are discussed.

Therapeutic efficacy of atypical antipsychotic drugs by targeting multiple stress-related metabolic pathways

PubMed Central

Cai, H L; Jiang, P; Tan, Q Y; Dang, R L; Tang, M M; Xue, Y; Deng, Y; Zhang, B K; Fang, P F; Xu, P; Xiang, D X; Li, H D; Yao, J K

2017-01-01

Schizophrenia (SZ) is considered to be a multifactorial brain disorder with defects involving many biochemical pathways. Patients with SZ show variable responses to current pharmacological treatments of SZ because of the heterogeneity of this disorder. Stress has a significant role in the pathophysiological pathways and therapeutic responses of SZ. Atypical antipsychotic drugs (AAPDs) can modulate the stress response of the hypothalamic–pituitary–adrenal (HPA) axis and exert therapeutic effects on stress by targeting the prefrontal cortex (PFC) and hippocampus. To evaluate the effects of AAPDs (such as clozapine, risperidone and aripiprazole) on stress, we compared neurochemical profile variations in the PFC and hippocampus between rat models of chronic unpredictable mild stress (CUMS) for HPA axis activation and of long-term dexamethasone exposure (LTDE) for HPA axis inhibition, using an ultraperformance liquid chromatography–mass spectrometry (UPLC–MS/MS)-based metabolomic approach and a multicriteria assessment. We identified a number of stress-induced biomarkers comprising creatine, choline, inosine, hypoxanthine, uric acid, allantoic acid, lysophosphatidylcholines (LysoPCs), phosphatidylethanolamines (PEs), corticosterone and progesterone. Specifically, pathway enrichment and correlation analyses suggested that stress induces oxidative damage by disturbing the creatine–phosphocreatine circuit and purine pathway, leading to excessive membrane breakdown. Moreover, our data suggested that the AAPDs tested partially restore stress-induced deficits by increasing the levels of creatine, progesterone and PEs. Thus, the present findings provide a theoretical basis for the hypothesis that a combined therapy using adenosine triphosphate fuel, antioxidants and omega-3 fatty acids as supplements may have synergistic effects on the therapeutic outcome following AAPD treatment. PMID:28509906

Expanded Dengue.

PubMed

Kadam, D B; Salvi, Sonali; Chandanwale, Ajay

2016-07-01

The World Health Organization (WHO) has coined the term expanded dengue to describe cases which do not fall into either dengue shock syndrome or dengue hemorrhagic fever. This has incorporated several atypical findings of dengue. Dengue virus has not been enlisted as a common etiological agent in several conditions like encephalitis, Guillain Barre syndrome. Moreover it is a great mimic of co-existing epidemics like Malaria, Chikungunya and Zika virus disease, which are also mosquito-borne diseases. The atypical manifestations noted in dengue can be mutisystemic and multifacetal. In clinical practice, the occurrence of atypical presentation should prompt us to investigate for dengue. Knowledge of expanded dengue helps to clinch the diagnosis of dengue early, especially during ongoing epidemics, avoiding further battery of investigations. Dengue has proved to be the epidemic with the ability to recur and has a diverse array of presentation as seen in large series from India, Srilanka, Indonesia and Taiwan. WHO has given the case definition of dengue fever in their comprehensive guidelines. Accordingly, a probable case is defined as acute febrile illness with two or more of any findings viz. headache, retro-orbital pain, myalgia, arthralgia, rash, hemorrhagic manifestations, leucopenia and supportive serology. There have been cases of patients admitted with fever, altered mentation with or without neck stiffness and pyramidal tract signs. Some had seizures or status epilepticus as presentation. When they were tested for serology, dengue was positive. After ruling out other causes, dengue remained the only culprit. We have come across varied presentations of dengue fever in clinical practice and the present article throws light on atypical manifestations of dengue. © Journal of the Association of Physicians of India 2011.

Prior Haloperidol, but not Olanzapine, Exposure Augments the Pursuit of Reward Cues: Implications for Substance Abuse in Schizophrenia

PubMed Central

Samaha, Anne-Noël

2013-01-01

Drug abuse and addiction are excessively common in schizophrenia. Chronic antipsychotic treatment might contribute to this comorbidity by inducing supersensitivity within the brain’s dopamine system. Dopamine supersensitivity can enhance the incentive motivational properties of reward cues, and reward cues contribute to the maintenance and severity of drug addiction. We have shown previously that rats withdrawn from continuous haloperidol (HAL) treatment (via subcutaneous minipump) develop dopamine supersensitivity and pursue reward cues more vigorously than HAL-naive rats following an amphetamine (AMPH) challenge. Atypical antipsychotic drugs are thought to be less likely than typicals to produce dopamine supersensitivity. Thus, we compared the effects of HAL and the atypical antipsychotic olanzapine (OLZ) on the pursuit of reward cues. Rats were trained to associate a light-tone cue with water then treated with HAL or OLZ. Following antipsychotic withdrawal, we assessed AMPH-induced enhancement of lever pressing for the cue. Withdrawal from HAL, but not from OLZ, enhanced this effect. HAL, but not OLZ, also enhanced AMPH-induced psychomotor activation and c-fos mRNA expression in the caudate-putamen. Thus, prior HAL, but not OLZ, enhanced conditioned reward following an AMPH challenge, and this was potentially linked to enhanced behavioral sensitivity to AMPH and AMPH-induced engagement of the caudate-putamen. These findings suggest that HAL, but not an atypical like OLZ, modifies reward circuitry in ways that increase responsiveness to reward cues. Because enhanced responsiveness to reward cues can promote drug-seeking behavior, it should be investigated whether atypical antipsychotics might be a preferential option in schizophrenic patients at risk for drug abuse or addiction. PMID:22927669

Typical, Atypical, and Asymptomatic Presentations of New-Onset Atrial Fibrillation in the Community: Characteristics and Prognostic Implications

PubMed Central

Siontis, Konstantinos C.; Gersh, Bernard J.; Killian, Jill M.; Noseworthy, Peter A.; McCabe, Pamela; Weston, Susan A.; Roger, Veronique L.; Chamberlain, Alanna M.

2016-01-01

Background The prognostic significance of the clinical presentation of atrial fibrillation (AF) is poorly defined. Objective We aimed to determine the frequency, associations, and prognostic impact of different clinical presentations of new-onset AF. Methods One thousand patients with incident AF in Olmsted County, MN, were randomly selected (2000-2010). Patients with AF that was complicated at presentation [heart failure (n=71), thromboembolism (n=24)], provoked (n=346), or unable to determine symptoms (n=83) were excluded. In the remaining patients, characteristics and prognosis associated with different types of symptoms were examined. Results Among 476 patients, 193 had typical (palpitations), 122 had atypical (other non-palpitation symptoms), and 161 had asymptomatic AF presentation. Patients with typical presentation had lower CHA2DS2-VASc scores (mean 2.3±2) compared to atypical and asymptomatic presentation (mean 3.2±1.8 and 3.3±1.9, respectively; p<0.001). Fifty-nine cerebrovascular events (CVE) and 149 deaths (n=49 cardiovascular) were documented over median 5.6 and 6.0 years, respectively. Atypical and asymptomatic AF conferred higher risks of CVE compared to typical AF after adjustment for CHA2DS2-VASc score and age (hazard ratio (HR) 3.51, 95% confidence interval (CI) 1.65-7.48 and HR 2.70, 95% CI 1.29-5.66, respectively), and associations remained statistically significant after further adjustments including comorbidities and warfarin use. Asymptomatic AF was associated with an increased risk of cardiovascular (HR 3.12, 95% CI 1.50-6.45) and all-cause mortality (HR 2.96, 95% CI 1.89-4.64) compared to typical AF after adjustment for CHA2DS2-VASc score and age. Conclusion The type of clinical presentation may have important implications for the prognosis of new-onset AF in the community. PMID:26961300

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.

"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).

COMBINED 24-HOURS ESOPHAGEAL PH MONITORING AND MULTICHANNEL INTRALUMINAL IMPEDANCE FOR COMPARISON OF GASTROESOPHAGEAL REFLUX IN CHILDREN WITH TYPICAL VERSUS ATYPICAL SYMPTOMS OF GASTROESOPHAGEAL REFLUX DISEASE.

PubMed

Dehghani, Seyed Mohsen; Taghavi, Seyed Alireza; Javaherizadeh, Hazhir; Nasri, Maryam

2016-01-01

- Gastroesophageal reflux disease is the most common esophageal disorder in pediatrics. - The aim of this study was to compare reflux parameters of typical and atypical symptoms of gastroesophageal reflux disease using 24-hour esophageal pH monitoring and multichannel intraluminal impedance in pediatric population. - In this prospective study, 43 patients aged less than 18 year with suspected gastroesophageal reflux disease were enrolled. The patients were divided into two groups based on the main presenting symptoms (typical versus atypical). Twenty four-hour pH monitoring and multichannel intraluminal impedance were performed in all the patients for comparing these two group regarding association of symptoms and reflux. Number of refluxes, pH related reflux, total reflux time, reflux more than 5 minutes, longest time of the reflux, lowest pH at reflux, reflux index were recorded and compared. Data comparison was done using SPSS. - The mean age of the patients was 5.7±3.4 years and 65.1% were male. Out of 43 patients 24 cases had typical symptoms and 19 had atypical symptoms. The mean reflux events detected by multichannel intraluminal impedance was more than mean reflux events detected by pH monitoring (308.4±115.8 vs 69.7±66.6) with P value of 0.037, which is statistically significant. The mean symptom index and symptom association probability were 35.01% ± 20.78% and 86.42% ± 25.79%, respectively in multichannel intraluminal impedance versus 12.73% ± 12.48% and 45.16% ± 42.29% in pH monitoring (P value <0.001). Number of acid reflux was 46.26±47.16 and 30.9±22.09 for atypical and typical symptoms respectively. The mean symptom index was 18.12% ± 13.101% and 8.30% ± 10.301% in atypical and typical symptoms respectively (P=0.034). Bolus clearance was longer in atypical symptoms compared typical symptoms(P<0.05). - Symptom index was significantly higher in atypical symptoms compared to typical symptoms. Higher number of acid reflux was found in children with atypical symptoms of reflux. Longer duration of bolus clearance was found in group with atypical symptoms of reflux.

Increased expression of annexin I and thioredoxin detected by two-dimensional gel electrophoresis of drug resistant human stomach cancer cells.

PubMed

Sinha, P; Hütter, G; Köttgen, E; Dietel, M; Schadendorf, D; Lage, H

1998-11-18

The therapy of advanced cancer using chemotherapy alone or in combination with radiation or hyperthermia yields an overall response rate of about 20-50%. This success is often marred by the development of resistance to cytostatic drugs. Our aim was to study the global analysis of protein expression in the development of chemoresistance in vitro. We therefore used a cell culture model derived from the gastric carcinoma cell line EPG 85-257P. A classical multidrug-resistant subline EPG85-257RDB selected to daunorubicin and an atypical multidrug-resistant cell variant EPG85-257RNOV selected to mitoxantrone, were analysed using two-dimensional electrophoresis in immobilized pH-gradients (pH 4.0-8.0) in the first dimension and linear polyacrylamide gels (12%) in the second dimension. After staining with coomassie brilliant blue, image analysis was performed using the PDQuest system. Spots of interest were isolated using preparative two-dimensional electrophoresis and subjected to microsequencing. A total of 241 spots from the EPG85-257RDB-standard and 289 spots from the EPG85-257RNOV-standard could be matched to the EPG85-257P-standard. Microsequencing after enzymatic hydrolysis in gel, mass spectrometric data and sequencing of the peptides after their fractionation using microbore HPLC identified that two proteins annexin I and thioredoxin were overexpressed in chemoresistant cell lines. Annexin I was present in both the classical and the atypical multidrug-resistant cells. Thioredoxin was found to be overexpressed only in the atypical multidrug-resistant cell line.

[Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy].

PubMed

Silva, Helga Cristina Almeida da; Hiray, Marcia; Vainzof, Mariz; Schmidt, Beny; Oliveira, Acary Souza Bulle; Amaral, José Luiz Gomes do

2017-05-31

Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is to describe the investigation and diagnosis of a patient with Becker muscular dystrophy and review the care required in anesthesia. Male patient, 14 years old, referred for hyperCKemia (chronic increase of serum creatine kinase levels - CK), with CK values of 7,779-29,040IU.L -1 (normal 174IU.L -1 ). He presented with a discrete delay in motor milestones acquisition (sitting at 9 months, walking at 18 months). He had a history of liver transplantation. In the neurological examination, the patient showed difficulty in walking on one's heels, myopathic sign (hands supported on the thighs to stand), high arched palate, calf hypertrophy, winged scapulae, global muscle hypotonia and arreflexia. Spirometry showed mild restrictive respiratory insufficiency (forced vital capacity: 77% of predicted). The in vitro muscle contracture test in response to halothane and caffeine was normal. Muscular dystrophy analysis by Western blot showed reduced dystrophin (20% of normal) for both antibodies (C and N-terminal), allowing the diagnosis of Becker muscular dystrophy. On preanesthetic assessment, the history of delayed motor development, as well as clinical and/or laboratory signs of myopathy, should encourage neurological evaluation, aiming at diagnosing subclinical myopathies and planning the necessary care to prevent anesthetic complications. Duchenne/Becker muscular dystrophy, although it does not increase susceptibility to MH, may lead to atypical fatal reactions in anesthesia. Copyright © 2017 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

Atypical Lymphocytes and Cellular Cannibalism: A Phenomenon, First of its Kind to be Discovered in Chronic Periapical Lesions.

PubMed

Kalele, Ketki P; Patil, Kaustubh P; Nayyar, Abhishek Singh; Sasane, Rutuparna S

2016-04-01

Lymphocytes are often termed to be isomorphic, having a monotonous light microscopic appearance. Morphological aspects of lymphocytes in tissue sections thereby are not routinely taken notice of as their morphology seems to vary only in case of lymphoid malignancies, hematological malignancies apart from certain viral infections. Atypical lymphocytes are the lymphocytes with unusual shape, size or overall structure. These are more commonly known as reactive lymphocytes. The unusual histomorphological feature of these cells include larger size than normal lymphocytes; in some cells the size exceeds even 30 microns. The large size is the result of antigenic stimulation of the cell. Alongwith these, the other rare feature which is recently coming under light is "Cellular Cannibalism" which is defined as a large cell enclosing a slightly smaller one within its cytoplasm. Previously, this feature was noted only in cases of malignant tumors. The objectives of this study were to determine the proportion of atypical lymphocytes in chronic periapical granulomas and cysts; to determine the proportionate cellular cannibalism in these periapical lesions. This was a descriptive, observational study conducted in the Department of Oral Medicine and Radiology and Oral Pathology and Microbiology. Haematoxylin and eosin stained 30 slides of chronic periapical granulomas and 20 slides of cysts reported in the year 2014-15 and the clinical proformas of the patients were retrieved from the files of the Department of Oral Medicine and Radiology and Oral Pathology and Microbiology. These slides were evaluated by 3 experts from the specialization of Oral Pathology and Microbiology to determine the presence of atypical lymphocytes and cellular cannibalism under high power magnification (400X). Out of the 30 slides of chronic periapical granulomas, about 12 slides (40%) revealed presence of atypical lymphocytes. In case of slides of chronic periapical cysts, however, only 4 out of the 20 slides (20%) examined histopathologically showed presence of atypical lymphocytes. An interesting feature of cellular cannibalism was noted in tissues with atypical cells. Cannibalistic cells were present in 12 out of the 30 slides of chronic periapical granulomas (40%). None of the cysts, however, revealed cannibalistic cells (0%). In the present study, we have quoted our observations on the unique cellular composition that was seen in histopathological sections of chronic periapical lesions. As also it was noted that those cases in which atypical cells & cellular cannibalism was evident the lesion clinically showed size more than 5cm. The question arises that whether presence of atypical cells from the tissue sections in these lesions denotes an aggressive clinical behavior and should be given a due consideration in deciding the treatment protocols for such cases to provide an optimum patient care.

Outbreak of subclinical mastitis in a flock of dairy goats associated with atypical Staphylococcus haemolyticus.

PubMed

Leitner, Gabriel; Sela, Shlom; Hammer-Muntz, Orly; Zivotofsky, Doni; Weisblit, Limor; Chaffer, Marcelo; Zamir, Shmuel

2009-02-01

Staphylococcus haemolyticus is a pathogen frequently isolated from dairy cows and small ruminants. However, it always appears in only a few animals and not as a major pathogen. Recently, in a dairy goat herd of approximately 250 milking animals, 25.6% (46/180 goats) had milk cultures with atypical highly mucoid colonies accompanied by elevated somatic cell counts. The isolates were identified as Staph. haemolyticus. The present study describes the steps used in an attempt to identify the bacterium and to compare it with other coagulase-negative staphylococci (CNS) including Staph. haemolyticus. Species identification performed with the API STAPH-IDENT 32 kit showed >99.4% identity confirmed by 16S rDNA sequencing tests. Microscopically the atypical Staph. haemolyticus strains showed unique cuboidal tetrad clusters reminiscent of those of the genus Sarcina. The outbreak caused by an atypical CNS underlines the need for accurate biochemical and genetic methods for ultimate identification of CNS to the species level.

CYTOPATHIC EFFECT OF THE ATYPICAL PNEUMONIA ORGANISM IN CULTURES OF HUMAN TISSUE

PubMed Central

Eaton, Monroe D.; Farnham, Ann E.; Levinthal, Jeana D.; Scala, Anthony R.

1962-01-01

Eaton, Monroe D. (Harvard Medical School, Boston, Mass.), Ann E. Farnham, Jeana D. Levinthal, and Anthony R. Scala. Cytopathic effect of the atypical pneumonia organism in cultures of human tissue. J. Bacteriol. 84:1330–1337. 1962.—Three strains of the atypical pneumonia agent were adapted to grow in continuous cell cultures of human amnion or human embryonic lung, with production of initial increased acidity followed by destruction of the cells. Evidence is presented that cytopathic effects of the organism were associated with intracellular growth and formation of microcolonies. Clumps of organisms stained specifically with fluorescein-labeled antibody, and showed distinctive tinctorial reactions with the May Grünwald-Giemsa stain. The cytopathic effect was prevented by fresh serum from a rabbit immunized with an egg-passage strain of the atypical pneumonia agent. Heating the immune serum to 56 C for 30 min abolished the neutralizing effect. The significance of heat-labile serum constituents in killing or inhibition of mycoplasma is discussed. Images PMID:16561984

Method for Atypical Opinion Extraction from Ungrammatical Answers in Open-ended Questions

NASA Astrophysics Data System (ADS)

Hiramatsu, Ayako; Tamura, Shingo; Oiso, Hiroaki; Komoda, Norihisa

This paper presents a method for atypical opinion extraction from ungrammatical answers to open-ended questions supplied through cellular phones. The proposed system excludes typical opinions and extracts only atypical opinions. To cope with incomplete syntax of texts due to the input by cellular phones, the system treats the opinions as the sets of keywords. The combinations of words are established beforehand in a typical word database. Based on the ratio of typical word combinations in sentences of an opinion, the system classifies the opinion typical or atypical. When typical word combinations are sought in an opinion, the system considers the word order and the distance of difference between the positions of words to exclude unnecessary combinations. Furthermore, when an opinion includes meanings the system divides the opinion into phrases at each typical word combination. By applying questionnaire data supplied by users of a mobile game content when they cancel their account, the extraction accuracy of the proposed system was confirmed.

Atypical Antipsychotic Drugs and the Risk of Sudden Cardiac Death

PubMed Central

Ray, Wayne A.; Chung, Cecilia P.; Murray, Katherine T.; Hall, Kathi; Stein, C. Michael

2009-01-01

Background Users of typical antipsychotics have increased risk of serious ventricular arrhythmias and sudden cardiac death. However, less is known regarding the cardiac safety of the atypical antipsychotic drugs, which have largely replaced the older agents in clinical practice. Methods We calculated the adjusted incidence of sudden cardiac death among current users of antipsychotics in a retrospective cohort of Tennessee Medicaid enrollees. The primary analysis included 44,218 and 46,089 baseline users of single typical and atypical drugs, respectively, and 186,600 matched nonuser controls. To assess residual confounding related to antipsychotic indication, we performed a secondary analysis of antipsychotic users with no baseline diagnosis of schizophrenia or related psychoses, propensity-score matched with nonusers. Results Current users of both typical and atypical antipsychotics had greater rates of sudden cardiac death than did nonusers of any antipsychotic, with adjusted incidence-rate ratios (IRRs) of 2.00 (95% CI, 1.69–2.35) and 2.27 (1.89–2.73), respectively. Former antipsychotic users had no significantly increased risk (IRR = 1.13 [0.98–1.30]). For both classes of drugs, the risk for current users increased significantly with dose. For typical antipsychotics the IRRs increased from 1.31 (0.97–1.77) for low doses to 2.42 (1.91–3.06) for high doses (p<.001). For atypical agents the IRRs increased from 1.59 (1.03–2.46) for low doses to 2.86 (2.25–3.65) for high doses (p=.015). The IRR for atypical vs typical antipsychotics was 1.14 (.93–1.39). Similar findings were present in the propensity-score matched cohort. Conclusion Current users of both typical and atypical antipsychotics had a similar, dose-related increased risk of sudden cardiac death. PMID:19144938

Deleterious sucking habits and atypical swallowing in children with otitis media with effusion.

PubMed

Ralli, Giovanni; Ruoppolo, Giovanni; Mora, Renzo; Guastini, Luca

2011-10-01

The aim of this study was to investigate the possible correlation between otitis media with effusion, bad sucking habits and atypical swallowing in children affected by otitis media with effusion. 65 children, aged from 7 to 12 years, observed in the ENT Department of the "La Sapienza" University of Rome, were enrolled in the study group (group A). All children were affected by otitis media with effusion for more than 3 months. As control group, 60 healthy children, aged from 7 to 12 years were identified (group B). All the children underwent medical history, with evaluation of the sucking habits, ENT examination, tympanometry, orthodontic examination and evaluation of swallowing. In the orthodontic examination the variables analyzed were: maximum mouth opening, right and left mandibular lateral movements and mandibular protrusion. Atypical swallowing was considered to occur when lip activity produced strong tension in the perioral musculature, and/or the tip of the tongue was placed or pushed against the anterior teeth during swallowing. In the group A, atypical swallowing was found in 33/65 subjects out of the 65 children (50.7%). In the control group (group B) 16/60 children (26.6%) showed atypical swallowing. Compared with group B, deleterious sucking habits were significantly higher (p<0.05) in the study group (28/65 vs. 12/60). In both the study and control group, deleterious sucking habits were present in almost all children with atypical swallowing (28/33 in group A and 12/16 in group B). Our data suggest a correlation between otitis media with effusion, deleterious sucking habits and prevalence of atypical swallowing. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Endometrial cancer arising from atypical complex hyperplasia: The significance in an endometrial biopsy and a diagnostic challenge

PubMed Central

Byun, Jung Mi; Jeong, Dae Hoon; Kim, Young Nam; Cho, En Bee; Cha, Ju Eun; Sung, Moon Su; Lee, Kyung Bok

2015-01-01

Objective We investigated the features of endometrial hyperplasia with concurrent endometrial cancer that had been diagnosed by endometrial sampling. Further, we attempted to identify an accurate differential diagnostic method. Methods We retrospectively studied 125 patients who underwent a diagnostic endometrial biopsy or were diagnosed after the surgical treatment of other gynecological lesions, such as leiomyoma or polyps. Patients were diagnosed between January 2005 and December 2013 at Busan Paik Hospital. Clinical and histopathological characteristics were compared in patients who had atypical endometrial hyperplasia with and without concurrent endometrial cancer. Results The patients were grouped based on the final pathology reports. One hundred seventeen patients were diagnosed with endometrial hyperplasia and eight patients were diagnosed with endometrioid adenocarcinoma arising from atypical hyperplasia. Of the 26 patients who had been diagnosed with atypical endometrial hyperplasia by office-based endometrial biopsy, eight (30.8%) were subsequently diagnosed with endometrial cancer after they had undergone hysterectomy. The patients with endometrial cancer arising from endometrial hyperplasia were younger (39.1 vs. 47.2 years, P=0.0104) and more obese (body mass index 26.1±9.6 vs. 23.8±2.8 kg/m2, P=0.3560) than the patients with endometrial hyperplasia. The correlation rate between the pathology of the endometrial samples and the final diagnosis of endometrial hyperplasia was 67.3%. Conclusion In patients with atypical endometrial hyperplasia, the detection of endometrial cancer before hysterectomy can decrease the risk of suboptimal treatment. The accuracy of endometrial sampling for the diagnosis of concurrent endometrial carcinoma was much lower than that for atypical endometrial hyperplasia. Therefore, concurrent endometrial carcinoma should be suspected and surgical intervention should be considered in young or obese patients who present with atypical endometrial hyperplasia. PMID:26623410

Takayasu arteritis in childhood: misdiagnoses at disease onset and associated diseases.

PubMed

Clemente, Gleice; Silva, Clovis A; Sacchetti, Silvana B; Ferriani, Virginia P L; Oliveira, Sheila K; Sztajnbok, Flavio; Bica, Blanca E R G; Cavalcanti, André; Robazzi, Teresa; Bandeira, Marcia; Terreri, Maria Teresa

2018-06-01

Juvenile-Takayasu arteritis (j-TA) is a difficult diagnosis and some patients develop uncommon manifestations and associated diseases that may contribute to the delayed diagnosis. Our aim was to identify the misdiagnoses, the associated diseases and the atypical manifestations observed in a j-TA Brazilian multicentre study. 71 children and adolescents who met the classification criteria for j-TA were included. The misdiagnoses, the associated diseases and the atypical manifestations were evaluated. 19 (26.8%) patients had misdiagnoses. The most common of them was aortic coarctation in six (8.4%) patients, followed by rheumatic fever in five (7.0%) and one patient presented with both former diagnoses. Limb pain (two patients), spondyloarthropathy, juvenile idiopathic arthritis (JIA), spinal arteriovenous malformation, polyarteritis nodosa (PAN) and fever of unknown origin (FUO) were other misdiagnoses. Patients who had misdiagnoses previously to j-TA diagnosis presented a trend to have a longer diagnosis delay. 11 (15.5%) patients had 14 TA-associated diseases, such as pulmonary tuberculosis (5 patients), rheumatic fever (2 patients), spondyloarthropathy, polyarticular JIA, Crohn's disease, Prader-Willi disease, diabetes mellitus, Moyamoya and primary immunodeficiency. 7 (9.9%) patients presented 10 atypical manifestations, such as pyoderma gangrenosum, erythema nodosum, myositis, chorea, enthesitis, episcleritis, uveitis, hepatomegaly, splenomegaly and necrosis of extremities. Our study emphasizes the main misdiagnoses, associated diseases and atypical manifestations that occur in patients with j-TA and warns of the features that may alert paediatricians to this diagnosis, such as constitutional symptoms and elevated inflammatory markers.

Interesting coincidence of atypical TSH-secreting pituitary adenoma and chronic lymphocytic leukemia.

PubMed

Bolanowski, Marek; Zieliński, Grzegorz; Jawiarczyk-Przybyłowska, Aleksandra; Maksymowicz, Maria; Potoczek, Stanisław; Syrycka, Joanna; Podgórski, Jan K

2014-01-01

Thyrotropin-secreting adenomas (TSH-oma) are very rare pituitary tumours. They are macroadenomas usually presenting with signs and symptoms of hyperthyroidism, and mass effects. They can co-secrete other hormones such as growth hormone or prolactin. Different malignancies, including haematological ones, are reported in patients with pituitary diseases. Chronic lymphocytic leukemia (CLL) occurs mostly in older patients, more often in males. CLL is associated with increased risk of second malignancies such as other blood neoplasms, skin and solid tumours. We present a successful neurosurgical outcome in a patient with an interesting coincidence of atypical TSH-oma and asymptomatic CLL.

Maxillary Teeth Abscesses Result in Atypical Liver Abscesses

PubMed Central

Gupta, Vritti; Vivekanandan, Renuga; Gorby, Gary

2018-01-01

Hepatic liver abscesses are often misdiagnosed on initial presentation because pyogenic liver lesions are a rare occurrence in the United States. This leads to a delay in proper treatment and results in increasing morbidity and mortality. Our case report demonstrates the atypical presentation of a hepatic liver abscess in the elderly. The source of infection was found to be periapical abscesses of the teeth, which subsequently seeded the portal blood stream of our patient. Our findings validate the potential hazard of Viridans streptococci and illustrate how untreated dental infections can serve as a reservoir for a systemic infection. PMID:29796365

IgLON5-Associated Encephalitis With Atypical Brain Magnetic Resonance Imaging and Cerebrospinal Fluid Changes.

PubMed

Montagna, Massimiliano; Amir, Rizvana; De Volder, Ilse; Lammens, Martin; Huyskens, Jef; Willekens, Barbara

2018-01-01

IgLON5-associated encephalitis is a syndrome with different clinical presentations consisting of sleep dysfunction, bulbar dysfunction, chorea, and progressive supranuclear palsy-like symptoms whereas dysautonomy and cognitive decline usually appear in later stages of the disease. We report a case of a patient with IgLON5-associated encephalitis presenting with rapidly progressive cognitive decline and atypical inflammatory lesions on brain magnetic resonance imaging, oligoclonal bands on cerebrospinal fluid, anti-IgLON5 antibodies exclusively of the IgG1 class, and a fierce inflammatory reaction on brain biopsy, who responded favorably to immunotherapy.

Age-Related Brain Activation Changes during Rule Repetition in Word-Matching.

PubMed

Methqal, Ikram; Pinsard, Basile; Amiri, Mahnoush; Wilson, Maximiliano A; Monchi, Oury; Provost, Jean-Sebastien; Joanette, Yves

2017-01-01

Objective: The purpose of this study was to explore the age-related brain activation changes during a word-matching semantic-category-based task, which required either repeating or changing a semantic rule to be applied. In order to do so, a word-semantic rule-based task was adapted from the Wisconsin Sorting Card Test, involving the repeated feedback-driven selection of given pairs of words based on semantic category-based criteria. Method: Forty healthy adults (20 younger and 20 older) performed a word-matching task while undergoing a fMRI scan in which they were required to pair a target word with another word from a group of three words. The required pairing is based on three word-pair semantic rules which correspond to different levels of semantic control demands: functional relatedness, moderately typical-relatedness (which were considered as low control demands), and atypical-relatedness (high control demands). The sorting period consisted of a continuous execution of the same sorting rule and an inferred trial-by-trial feedback was given. Results: Behavioral performance revealed increases in response times and decreases of correct responses according to the level of semantic control demands (functional vs. typical vs. atypical) for both age groups (younger and older) reflecting graded differences in the repetition of the application of a given semantic rule. Neuroimaging findings of significant brain activation showed two main results: (1) Greater task-related activation changes for the repetition of the application of atypical rules relative to typical and functional rules, and (2) Changes (older > younger) in the inferior prefrontal regions for functional rules and more extensive and bilateral activations for typical and atypical rules. Regarding the inter-semantic rules comparison, only task-related activation differences were observed for functional > typical (e.g., inferior parietal and temporal regions bilaterally) and atypical > typical (e.g., prefrontal, inferior parietal, posterior temporal, and subcortical regions). Conclusion: These results suggest that healthy cognitive aging relies on the adaptive changes of inferior prefrontal resources involved in the repetitive execution of semantic rules, thus reflecting graded differences in support of task demands.

The monsoon imprint during the `atypical' MIS 13 as seen through north and equatorial Indian Ocean records

NASA Astrophysics Data System (ADS)

Caley, Thibaut; Malaizé, Bruno; Bassinot, Franck; Clemens, Steven C.; Caillon, Nicolas; Linda, Rossignol; Charlier, Karine; Rebaubier, Helene

2011-09-01

Previous studies have suggested that Marine Isotope Stage (MIS) 13, recognized as atypical in many paleoclimate records, is marked by the development of anomalously strong summer monsoons in the northern tropical areas. To test this hypothesis, we performed a multi-proxy study on three marine records from the tropical Indian Ocean in order to reconstruct and analyse changes in the summer Indian monsoon winds and precipitations during MIS 13. Our data confirm the existence of a low-salinity event during MIS 13 in the equatorial Indian Ocean but we argue that this event should not be considered as "atypical". Taking only into account a smaller precession does not make it possible to explain such precipitation episode. However, when considering also the larger obliquity in a more complete orbitally driven monsoon "model," one can successfully explain this event. In addition, our data suggest that intense summer monsoon winds, although not atypical in strength, prevailed during MIS 13 in the western Arabian Sea. These strong monsoon winds, transporting important moisture, together with the effect of insolation and Eurasian ice sheet, are likely one of the factors responsible for the intense monsoon precipitation signal recorded in China loess, as suggested by model simulations.

Exploring Typical and Atypical Safety Climate Perceptions of Practitioners in the Repair, Maintenance, Minor Alteration and Addition (RMAA) Sector in Hong Kong.

PubMed

Hon, Carol K H; Liu, Yulin

2016-09-22

The safety of repair, maintenance, minor alteration and addition (RMAA) work is an under-explored area. This study explored the typical and atypical safety climate perceptions of practitioners in the RMAA sector in Hong Kong, based on a self-administered questionnaire survey of 662 local practitioners in the industry. Profile analysis, via multidimensional scaling of the respondents' scores of three safety climate scales, identified one typical perception: high in management commitment to occupational health and safety (OHS) and employee involvement, low in applicability for safety rules and regulations, and low in responsibility for OHS. The respondents were clustered into typical and atypical perception groups according to their safety climate scores' match to the typical perception. A comparison of demographics between the two groups with logistic regression found that work level and direct employer significantly affect their classification. A multivariate analysis of variance of safety performance measures between the two groups indicated that the typical group had a significantly higher level of safety compliance than the atypical group, with no significant difference in safety participation or injury. The significance of this study lies in revealing the typical safety climate perception profile pattern of RMAA works and offering a new perspective of safety climate research.

Exploring Typical and Atypical Safety Climate Perceptions of Practitioners in the Repair, Maintenance, Minor Alteration and Addition (RMAA) Sector in Hong Kong

PubMed Central

Hon, Carol K.H.; Liu, Yulin

2016-01-01

The safety of repair, maintenance, minor alteration and addition (RMAA) work is an under-explored area. This study explored the typical and atypical safety climate perceptions of practitioners in the RMAA sector in Hong Kong, based on a self-administered questionnaire survey of 662 local practitioners in the industry. Profile analysis, via multidimensional scaling of the respondents’ scores of three safety climate scales, identified one typical perception: high in management commitment to occupational health and safety (OHS) and employee involvement, low in applicability for safety rules and regulations, and low in responsibility for OHS. The respondents were clustered into typical and atypical perception groups according to their safety climate scores’ match to the typical perception. A comparison of demographics between the two groups with logistic regression found that work level and direct employer significantly affect their classification. A multivariate analysis of variance of safety performance measures between the two groups indicated that the typical group had a significantly higher level of safety compliance than the atypical group, with no significant difference in safety participation or injury. The significance of this study lies in revealing the typical safety climate perception profile pattern of RMAA works and offering a new perspective of safety climate research. PMID:27669269

A case of tinea incognito.

PubMed

Segal, Dan; Wells, Malcolm M; Rahalkar, Amit; Joseph, Mariamma; Mrkobrada, Marko

2013-05-15

Tinea incognito is a dermatophyte infection of the skin that presents atypically because it has previously been treated with imunnosuppresive medication. Herein we present a case of a middle-aged man who was initially clinically diagnosed to have plaque-type psoriasis on his arms. Over the course of two months of topical hydrocortisone and calciptriol treatment as well as phototherapy, the rash worsened. At the time of presentation to hospital the patient had a pruritic, widespread, sloughing, erythematous rash with areas of eschar. A punch biopsy skin confirmed dermatophyte fungal infection of the skin. Fungal culture was positive for Trichophyton Rubrum and the eruption resolved with systemic anti-fungal therapy. Patient specific risk factors for atypical presentation included poor hygiene and hepatatic disease.

Binaural Interaction in Specific Language Impairment: An Auditory Evoked Potential Study

ERIC Educational Resources Information Center

Clarke, Elaine M; Adams, Catherine

2007-01-01

The aim of the study was to examine whether auditory binaural interaction, defined as any difference between binaurally evoked responses and the sum of monaurally evoked responses, which is thought to index functions involved in the localization and detection of signals in background noise, is atypical in a group of children with specific language…

Developmental Change in the ERP Responses to Familiar Faces in Toddlers with Autism Spectrum Disorders versus Typical Development

ERIC Educational Resources Information Center

Webb, Sara Jane; Jones, Emily J. H.; Merkle, Kristen; Venema, Kaitlin; Greenson, Jessica; Murias, Michael; Dawson, Geraldine

2011-01-01

Individuals with autism spectrum disorder (ASD) show differences in face processing abilities from early in development. To examine whether these differences reflect an atypical versus delayed developmental trajectory, neural responses to familiar and unfamiliar faces in twenty-four 18- to 47-month-old children with ASD were compared with…

Use of a Differential Observing Response to Expand Restricted Stimulus Control

ERIC Educational Resources Information Center

Walpole, Carrie Wallace; Roscoe, Eileen M.; Dube, William V.

2007-01-01

This study extends previous work on the use of differential observing responses (DOR) to remediate atypically restricted stimulus control. A participant with autism had high matching-to-sample accuracy scores with printed words that had no letters in common (e.g., "cat," "lid," "bug") but poor accuracy with words that had two letters in common…

A Novel PANK2 Mutation in a Patient with Atypical Pantothenate-Kinase-Associated Neurodegeneration Presenting with Adult-Onset Parkinsonism

PubMed Central

Seo, Joo-Hyun; Song, Sook-Keun

2009-01-01

Background Pantothenate-kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder that is characterized by progressive extrapyramidal signs, visual loss, and cognitive impairment. PKAN is caused by mutations in the pantothenate kinase gene (PANK2), which is located on chromosome 20p13 and encodes pantothenate kinase, the key regulatory enzyme in coenzyme-A biosynthesis. Case Report In this report we describe a case of atypical PKAN with a novel PANK2 mutation, presenting with a 10-year history of postural tremor involving both hands. Upon neurological examination, the patient's face was masked and he spoke in a monotonous voice. The patient presented with mild bradykinesia and rigidity that involved all of the extremities. Horizontal saccadic eye movements were slow and fragmented. Brain MRI revealed a typical "eye-of-the-tiger" sign. A mutation analysis revealed three PANK2 mutations: two in exon 3 (Asp 378Gly and Leu385CysfsX13) and one in exon 4 (Arg440Pro). Conclusions Parkinsonism is not an unusual presenting symptom in patients with atypical PKAN, and so it is important for physicians to consider PKAN in the differential diagnosis of patients presenting with young-onset parkinsonism. PMID:20076801

A case of atypical thyroid storm with hypoglycemia and lactic acidosis.

PubMed

Izumi, Kenichi; Kondo, Shiori; Okada, Takanori

2009-01-01

We describe herein a case of thyroid storm with hypoglycemia and lactic acidosis-a rare complication of thyroid storm. The patient was a 50-year-old Japanese woman who suffered cardiopulmonary arrest an hour after hospitalization. Analysis of a blood sample obtained before her cardiopulmonary arrest yielded surprising results: Her plasma glucose level was 14 mg/dL and her lactic acid concentration had increased to 6.238 mM. Thus, if atypical thyroid storm presents with normothermic hypoglycemia, and lactic acidosis, we believe it is necessary to consider a diagnosis of thyroid storm earlier, because this condition requires emergency treatment. Moreover, it is very important to apply standard principles in the treatment of atypical cases of thyroid storm.

Folliculotropic mycosis fungoides and a leonine clinical appearance of the face.

PubMed

Ito, Tomonobu; Yamamoto, Toshiyuki; Matsumoto, Yuka; Wakamatsu, Junko; Kato, Yukihiko; Tsuboi, Ryoji

2008-09-15

A 73-year-old man presented with a two year history of multiple nodules and follicular papules accompanied by slight itching on the face and the forearm. A physical examination showed multiple, soft, erythematous nodules on the forehead, cheek, and jaw, contributing to a generally leonine appearance of the face. Histopathological examination from the forehead revealed dense, massive concentrations of atypical lymphocytes in the dermis, and the forearm showed infiltration of atypical lymphocytes predominantly around the follicles. We diagnosed this condition as folliculotropic cutaneous T cell lymphoma (CTCL). EPOCH therapy was very effective and the lesions of the forehead and forearm showed a decrease in tumor elevation; the histology showed a precipitous decrease in the number of the atypical lymphocytes.

A Death Involving a Fired and Deflected Bullet: A Case Report from Lyon University Institute of Forensic Science, France.

PubMed

Maujean, Géraldine; Guinet, Tiphaine; Malicier, Daniel

2016-01-01

In case of gunshot deaths, atypical wounds can make the distinction between entrance and exit wounds harder. They may be due either to anatomical reasons or to diverse cogent ballistic arguments. The reported case pertains to a fatal hunting accident involving an expanded conical point bullet against the neck with both atypical entrance and exit wounds. Ballistic analyses including test firings allowed a better understanding of the external and internal findings. Upon premature impact with an intermediary target, the bullet experienced expansion in the formation of sharp brass petals responsible for a star-shaped entry wound. The trajectory of the deformed high energy projectile through the victim's body was then deviated by the cervical column, causing it to be tangential to the skin when exiting the body. The description of such atypical cases may benefit other experts and may assist in their investigation into similar cases. © 2015 American Academy of Forensic Sciences.

Goiter and deaf mutism.

PubMed

Thieme, E T

1975-08-01

The occurrence of deaf-mutism and goiter unassocaited with creatinism or mental retardation in euthyroid patients is known as Pendred's Syndrome. It is considered due to a single mutant recessive gene responsible for both the goiter and deafness. The penetrance is high, the intenseness of expressivity may vary within the same family and only one generation is affected. The extremely atypical hyperplasia seen in such goiters has been considered malignant. In 1956 the author reported a family in which 4 of 6 sibilings demonstrated Pendred's Syndrome. Three of the 4 had undergone thyroidectomy, two were considered to have carcinoma. Nineteen years later the family is again reported. The fourth sibling has recently undergone thyroidectomy. This thyroid demonstrated the same atypical hyperplasia as seen in the elder two siblings. The 19 year followup of this family has shown no evidence of recurrence or metastases, indicating that the atypical hyperplasia is probably not malignant. Pendred's Syndrome is described and certain suggestions are made for the counseling of the parents and the treatment and counseling of those children so afflicted.

Segmental dilatation of sigmoid colon in a neonate: atypical presentation and histology.

PubMed

Mahadevaiah, Shubha Attibele; Panjwani, Poonam; Kini, Usha; Mohanty, Suravi; Das, Kanishka

2011-03-01

Segmental dilatation of the colon is a rare disorder of colonic motility in children, often presenting with severe constipation in older infants, children, and occasionally adults. It may mimic the commoner Hirschsprung disease clinicoradiologically but differs in that the ganglion cell morphology and distribution are typically normal in the colon. We report a neonate with segmental dilatation of the sigmoid colon who had an atypical clinical presentation and describe certain abnormalities in bowel histology (hypertrophied muscularis propria, nerve plexus, and ganglion cells located within the circular layer rather than the normal myenteric location), for the first time in the English literature. Copyright © 2011 Elsevier Inc. All rights reserved.

Atypical spatiotemporal signatures of working memory brain processes in autism.

PubMed

Urbain, C M; Pang, E W; Taylor, M J

2015-08-11

Working memory (WM) impairments may contribute to the profound behavioural manifestations in children with autism spectrum disorder (ASD). However, previous behavioural results are discrepant as are the few functional magnetic resonance imaging (fMRI) results collected in adults and adolescents with ASD. Here we investigate the precise temporal dynamics of WM-related brain activity using magnetoencephalography (MEG) in 20 children with ASD and matched controls during an n-back WM task across different load levels (1-back vs 2-back). Although behavioural results were similar between ASD and typically developing (TD) children, the between-group comparison performed on functional brain activity showed atypical WM-related brain processes in children with ASD compared with TD children. These atypical responses were observed in the ASD group from 200 to 600 ms post stimulus in both the low- (1-back) and high- (2-back) memory load conditions. During the 1-back condition, children with ASD showed reduced WM-related activations in the right hippocampus and the cingulate gyrus compared with TD children who showed more activation in the left dorso-lateral prefrontal cortex and the insulae. In the 2-back condition, children with ASD showed less activity in the left insula and midcingulate gyrus and more activity in the left precuneus than TD children. In addition, reduced activity in the anterior cingulate cortex was correlated with symptom severity in children with ASD. Thus, this MEG study identified the precise timing and sources of atypical WM-related activity in frontal, temporal and parietal regions in children with ASD. The potential impacts of such atypicalities on social deficits of autism are discussed.

Atypical antipsychotics and metabolic syndrome in patients with schizophrenia: risk factors, monitoring, and healthcare implications.

PubMed

Riordan, Henry J; Antonini, Paola; Murphy, Michael F

2011-09-01

Metabolic syndrome is a leading cause of morbidity and mortality in patients with schizophrenia, with a prevalence rate double that of nonpsychiatric populations. Given the amount of evidence suggesting a link between atypical antipsychotic medications and metabolic syndrome, several agencies have recommended regular clinical monitoring of weight, symptoms of hyperglycemia, and glucose in chronically medicated patients with schizophrenia. To summarize the current literature on atypical antipsychotic-induced metabolic syndrome in patients with schizophrenia, outline some of the molecular mechanisms behind this syndrome, identify demographic and disease-related risk factors, and describe cost-effective methods for surveillance. The differential prevalence of metabolic syndrome associated with various atypical antipsychotic medications has been evidenced across numerous studies, with higher effects seen for certain antipsychotic medications on weight gain, waist circumference, fasting triglyceride level, and glucose levels. Given the association of these symptoms, all atypical antipsychotic medications currently include a warning about the risk of hyperglycemia and diabetes, as well as suggestions for regular monitoring. Despite this, very little data are available to support adherence to these monitoring recommendations. Lack of awareness and resources, diffusion of responsibility, policy implementation, and organizational structure have all been implicated. The treatment of schizophrenia involves a balance in terms of risks and benefits. Failing to treat because of risk for complications from metabolic syndrome may place the patient at a higher risk for more serious health outcomes. Supporting programs aimed at increasing monitoring of simple laboratory and clinical measures associated with metabolic syndrome may decrease important risk factors, improve patients' quality of life, and reduce healthcare costs.

Protection against atypical Aeromonas salmonicida infection in carp (Cyprinus carpio L.) by oral administration of humus extract.

PubMed

Kodama, Hiroshi; Denso; Nakagawa, Tsuyoshi

2007-04-01

Humic substances are formed during the decomposition of organic matter in humus, and are found in many natural environments in which organic materials and microorganisms have been present. In the present study, oral administration of humus extract to common carp (Cyprinus carpio L.) induced effective protection against experimental atypical Aeromonas salmonicida infection. Mortality of fish and development of skin lesions such as hemorrhages and ulcers were significantly suppressed in carp treated with 10%, 5% or 1% humus extract adsorbed on dry feeding pellets. The median surviving days was also greater in fish treated with 10% or 5% humus extract than in untreated fish. Atypical A. salmonicida was isolated from ulcerative lesions of part of dead fish, but Aeromonas hydrophila and Flavobacterium sp. were also isolated from these fish, verifying bacterial population changes during the progression of skin lesions. These results clearly show that treatment of fish with humus extract is effective in preventing A. salmonicida disease.

Atypical favic invasion of the scalp by Microsporum canis: report of a case and review of reported cases caused by Microsporum species.

PubMed

Krunic, Aleksandar L; Cetner, Aaron; Tesic, Vera; Janda, William M; Worobec, Sophie

2007-03-01

Favus is an uncommon pattern of dermatophytic infection of the scalp, glabrous skin and nails. We report the first documented case of favus of the scalp caused by Microsporum canis in an immunocompetent 8-year-old girl. The classic and various atypical clinical presentations of favus are discussed, as well as a brief review of the literature given.

Birth Origin Differentially Affects Depressive-Like Behaviours: Are Captive-Born Cynomolgus Monkeys More Vulnerable to Depression than Their Wild-Born Counterparts?

PubMed Central

Camus, Sandrine MJ.; Rochais, Céline; Blois-Heulin, Catherine; Li, Qin; Hausberger, Martine; Bezard, Erwan

2013-01-01

Background Adverse early-life experience might lead to the expression of abnormal behaviours in animals and the predisposition to psychiatric disorder (e.g. major depressive disorder) in Humans. Common breeding processes employ weaning and housing conditions different from what happens in the wild. Methods The present study, therefore, investigated whether birth origin impacts the possible existence of spontaneous atypical/abnormal behaviours displayed by 40 captive-born and 40 wild-born socially-housed cynomolgus macaques in farming conditions using an unbiased ethological scan-sampling analysis followed by multifactorial correspondence and hierarchical clustering analyses. Results We identified 10 distinct profiles (groups A to J) that significantly differed on several behaviours, body postures, body orientations, distances between individuals and locations in the cage. Data suggest that 4 captive-born and 1 wild-born animals (groups G and J) present depressive-like symptoms, unnatural early life events thereby increasing the risk of developing pathological symptoms. General differences were also highlighted between the captive- and wild-born populations, implying the expression of differential coping mechanisms in response to the same captive environment. Conclusions Birth origin thus impacts the development of atypical ethologically-defined behavioural profiles, reminiscent of certain depressive-like symptoms. The use of unbiased behavioural observations might allow the identification of animal models of human mental/behavioural disorders and their most appropriate control groups. PMID:23861787

Deafness on the island of Providencia - Colombia: different etiology, different genetic counseling.

PubMed

Lattig, M C; Gelvez, N; Plaza, S L; Tamayo, G; Uribe, J I; Salvatierra, I; Bernal, J E; Tamayo, M L

2008-01-01

Providencia is a small island located in the Caribbean Ocean, northwest of Colombia with an unusually high frequency of individuals with hearing loss (5 in 1,000) is present. The hearing loss in the island was characterized as non-syndromic autosomal recessive deafness accounting for 47% (8/17) of the deaf population, Waardenburg Syndrome (deafness associated with pigmentary anomalies) for 29% (5/17), and the remaining 24% (4/17) are cases of sporadic non-syndromic deafness. For appropriate genetic counseling a complete pedigree of families with deaf individuals was constructed. The 35delG mutation in GJB2 gene, which encodes connexin 26 (Cx26), is responsible for the deafness observed in the 8 individuals with autosomal recessive non-syndromic hearing loss. The deaf individuals with Waardenburg Syndrome and the sporadic cases did not have this mutation. Therefore, we present here an atypical case of an isolated community with at least two different genetic etiologies for deafness: non-syndromic genetic deafness caused by the 35delG mutation in the GJB2 gene and deafness associated with Waardenburg Syndrome not related to GJB2. In a small and isolated population, it is feasible to assume that the deafness is caused by the same factor; however, Providencia is an atypical case. Therefore, it is extremely important to define the exact etiology of deafness in each case, since different etiologies require different genetic counseling.

Psychopathology in patients with endogenous Cushing's syndrome: 'atypical' or melancholic features.

PubMed

Dorn, L D; Burgess, E S; Dubbert, B; Simpson, S E; Friedman, T; Kling, M; Gold, P W; Chrousos, G P

1995-10-01

Prolonged elevations of glucocorticoids have been linked to the effective disturbances experienced by patients with Cushing's syndrome. Major depression has been most commonly reported in patients with endogenous Cushing's syndrome. The purpose of this study was to determine whether these patients experience melancholic or 'atypical' subtype depression and to determine relations between current psychological functioning and factors such as duration and severity of Cushing's syndrome. We examined 33 adult patients with documented Cushing's syndrome and 17 hospitalized, matched controls, using standardized structured interviews and tests. During the active phase of Cushing's syndrome (prior to and/or on admission), 66.7% of all patients reported histories meeting criteria for a psychiatric diagnosis. Of those with a diagnosis during Cushing's syndrome, 50% reported major depression. Upon presentation to this institution, atypical depression was the most common diagnosis involving 51.5% (n =17) of all enrolled patients. Of the 17 with atypical depression, 8 reported a co-morbid psychiatric disorder. The duration of Cushing's syndrome was an important factor in predicting whether patients sought psychological intervention or met criteria for psychiatric diagnosis. Patients with active endogenous Cushing's syndrome exhibit significant psychopathology expressed primarily by atypical depression. Longer duration of Cushing's syndrome may place them at increased risk of such psychopathology.

Biphasic Somatic A-Type K+ Channel Downregulation Mediates Intrinsic Plasticity in Hippocampal CA1 Pyramidal Neurons

PubMed Central

Jung, Sung-Cherl; Hoffman, Dax A.

2009-01-01

Since its original description, the induction of synaptic long-term potentiation (LTP) has been known to be accompanied by a lasting increase in the intrinsic excitability (intrinsic plasticity) of hippocampal neurons. Recent evidence shows that dendritic excitability can be enhanced by an activity-dependent decrease in the activity of A-type K+ channels. In the present manuscript, we examined the role of A-type K+ channels in regulating intrinsic excitability of CA1 pyramidal neurons of the hippocampus after synapse-specific LTP induction. In electrophysiological recordings we found that LTP induced a potentiation of excitability which was accompanied by a two-phased change in A-type K+ channel activity recorded in nucleated patches from organotypic slices of rat hippocampus. Induction of LTP resulted in an immediate but short lasting hyperpolarization of the voltage-dependence of steady-state A-type K+ channel inactivation along with a progressive, long-lasting decrease in peak A-current density. Blocking clathrin-mediated endocytosis prevented the A-current decrease and most measures of intrinsic plasticity. These results suggest that two temporally distinct but overlapping mechanisms of A-channel downregulation together contribute to the plasticity of intrinsic excitability. Finally we show that intrinsic plasticity resulted in a global enhancement of EPSP-spike coupling. PMID:19662093

Petrogenesis of two Triassic A-type intrusions in the interior of South China and their implications for tectonic transition

NASA Astrophysics Data System (ADS)

Sun, Li-Qiang; Ling, Hong-Fei; Shen, Wei-Zhou; Wang, Kai-Xing; Huang, Guo-Long

2017-07-01

The evolution of the tectonic regime that was responsible for the Indosinian granitoids in the South China Block (SCB) is still controversial. Investigations on A-type granites can provide important information regarding this tectonic evolution. A detailed study that utilizes whole-rock elemental, Sr-Nd isotopic, in situ zircon U-Pb and Lu-Hf isotopic geochemistry is conducted on the Miantuwo biotite granite in northern Guangdong Province and the Pingtian biotite monzogranite in southern Jiangxi Province, South China. The new data indicate that both the Miantuwo and Pingtian granites were emplaced at 233 ± 2 Ma and show metaluminous to slightly peraluminous A-type granite affinity. The two granites are characterized by high amounts of rare earth elements (total REEs = 247 ppm-557 ppm and 251 ppm-342 ppm) and high field strength elements (Zr + Nb + Ce + Y = 325 ppm-605 ppm and 343 ppm-496 ppm) and high Ga/Al ratios (10,000 × Ga/Al = 2.50-2.98 and 2.62-2.70). Calculations from a zircon saturation thermometer and apatite saturation thermometer indicate that the magmatic temperatures were 800 °C-980 °C for both granites. Both the Miantuwo and Pingtian granites show relatively high initial 87Sr/86Sr ratios (0.7151-0.7185 and 0.7170-0.7189), low εNd(t) values (- 9.8 to - 8.6 and - 9.7 to - 9.1) and low to moderate zircon εHf(t) values (- 10.4 to - 6.6 and - 9.5 to - 4.6). Based on these data, we suggest that these two A-type granites were derived from the partial melting of existing mafic to intermediate rocks in the lower crust in response to the underplating and/or intraplating of mantle-derived magma. Our study on the Miantuwo and Pingtian granites, alongside previous studies on other Triassic A-type granites in South China, indicates an extensional tectonic environment during the Late Triassic in the interior of the Cathaysia Block. Alongside existing geological observations and the tectonic evolution in the SCB, we suggest that the interior of the SCB was dominated by a compressional tectonic environment during the Late Permian-Middle Triassic in response to the collisions between the SCB and ambient blocks, and then a tectonic transition from this compressional environment to a post-collisional extension environment began at approximately 233 Ma.

RNA-Binding Proteins in Trichomonas vaginalis: Atypical Multifunctional Proteins.

PubMed

Figueroa-Angulo, Elisa E; Calla-Choque, Jaeson S; Mancilla-Olea, Maria Inocente; Arroyo, Rossana

2015-11-26

Iron homeostasis is highly regulated in vertebrates through a regulatory system mediated by RNA-protein interactions between the iron regulatory proteins (IRPs) that interact with an iron responsive element (IRE) located in certain mRNAs, dubbed the IRE-IRP regulatory system. Trichomonas vaginalis, the causal agent of trichomoniasis, presents high iron dependency to regulate its growth, metabolism, and virulence properties. Although T. vaginalis lacks IRPs or proteins with aconitase activity, possesses gene expression mechanisms of iron regulation at the transcriptional and posttranscriptional levels. However, only one gene with iron regulation at the transcriptional level has been described. Recently, our research group described an iron posttranscriptional regulatory mechanism in the T. vaginalis tvcp4 and tvcp12 cysteine proteinase mRNAs. The tvcp4 and tvcp12 mRNAs have a stem-loop structure in the 5'-coding region or in the 3'-UTR, respectively that interacts with T. vaginalis multifunctional proteins HSP70, α-Actinin, and Actin under iron starvation condition, causing translation inhibition or mRNA stabilization similar to the previously characterized IRE-IRP system in eukaryotes. Herein, we summarize recent progress and shed some light on atypical RNA-binding proteins that may participate in the iron posttranscriptional regulation in T. vaginalis.

Brain synchronization during perception of facial emotional expressions with natural and unnatural dynamics

PubMed Central

Volhard, Jakob; Müller, Viktor; Kaulard, Kathrin; Brick, Timothy R.; Wallraven, Christian; Lindenberger, Ulman

2017-01-01

Research on the perception of facial emotional expressions (FEEs) often uses static images that do not capture the dynamic character of social coordination in natural settings. Recent behavioral and neuroimaging studies suggest that dynamic FEEs (videos or morphs) enhance emotion perception. To identify mechanisms associated with the perception of FEEs with natural dynamics, the present EEG (Electroencephalography)study compared (i) ecologically valid stimuli of angry and happy FEEs with natural dynamics to (ii) FEEs with unnatural dynamics, and to (iii) static FEEs. FEEs with unnatural dynamics showed faces moving in a biologically possible but unpredictable and atypical manner, generally resulting in ambivalent emotional content. Participants were asked to explicitly recognize FEEs. Using whole power (WP) and phase synchrony (Phase Locking Index, PLI), we found that brain responses discriminated between natural and unnatural FEEs (both static and dynamic). Differences were primarily observed in the timing and brain topographies of delta and theta PLI and WP, and in alpha and beta WP. Our results support the view that biologically plausible, albeit atypical, FEEs are processed by the brain by different mechanisms than natural FEEs. We conclude that natural movement dynamics are essential for the perception of FEEs and the associated brain processes. PMID:28723957

Brain synchronization during perception of facial emotional expressions with natural and unnatural dynamics.

PubMed

Perdikis, Dionysios; Volhard, Jakob; Müller, Viktor; Kaulard, Kathrin; Brick, Timothy R; Wallraven, Christian; Lindenberger, Ulman

2017-01-01

Research on the perception of facial emotional expressions (FEEs) often uses static images that do not capture the dynamic character of social coordination in natural settings. Recent behavioral and neuroimaging studies suggest that dynamic FEEs (videos or morphs) enhance emotion perception. To identify mechanisms associated with the perception of FEEs with natural dynamics, the present EEG (Electroencephalography)study compared (i) ecologically valid stimuli of angry and happy FEEs with natural dynamics to (ii) FEEs with unnatural dynamics, and to (iii) static FEEs. FEEs with unnatural dynamics showed faces moving in a biologically possible but unpredictable and atypical manner, generally resulting in ambivalent emotional content. Participants were asked to explicitly recognize FEEs. Using whole power (WP) and phase synchrony (Phase Locking Index, PLI), we found that brain responses discriminated between natural and unnatural FEEs (both static and dynamic). Differences were primarily observed in the timing and brain topographies of delta and theta PLI and WP, and in alpha and beta WP. Our results support the view that biologically plausible, albeit atypical, FEEs are processed by the brain by different mechanisms than natural FEEs. We conclude that natural movement dynamics are essential for the perception of FEEs and the associated brain processes.

Sensory deprivation due to otitis media episodes in early childhood and its effect at later age: A psychoacoustic and speech perception measure.

PubMed

Shetty, Hemanth Narayan; Koonoor, Vishal

2016-11-01

Past research has reported that children with repeated occurrences of otitis media at an early age have a negative impact on speech perception at a later age. The present study necessitates documenting the temporal and spectral processing on speech perception in noise from normal and atypical groups. The present study evaluated the relation between speech perception in noise and temporal; and spectral processing abilities in children with normal and atypical groups. The study included two experiments. In the first experiment, temporal resolution and frequency discrimination of listeners with normal group and three subgroups of atypical groups (had a history of OM) a) less than four episodes b) four to nine episodes and c) More than nine episodes during their chronological age of 6 months to 2 years) were evaluated using measures of temporal modulation transfer function and frequency discrimination test. In the second experiment, SNR 50 was evaluated on each group of study participants. All participants had normal hearing and middle ear status during the course of testing. Demonstrated that children with atypical group had significantly poorer modulation detection threshold, peak sensitivity and bandwidth; and frequency discrimination to each F0 than normal hearing listeners. Furthermore, there was a significant correlation seen between measures of temporal resolution; frequency discrimination and speech perception in noise. It infers atypical groups have significant impairment in extracting envelope as well as fine structure cues from the signal. The results supported the idea that episodes of OM before 2 years of agecan produce periods of sensory deprivation that alters the temporal and spectral skills which in turn has negative consequences on speech perception in noise. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

[Immunofluorescence assay with Crithidia luciliae for the detection of anti-DNA antibodies. Atypical images and their relationship with Chagas' disease and leishmaniasis].

PubMed

Griemberg, Gloria; Ferrarotti, Nidia F; Svibel, Graciela; Ravelli, Maria R; Taranto, Nestor J; Malchiodi, Emilio L; Pizzimenti, Maria C

2006-01-01

Anti-native DNA antibodies can be detected by indirect immunofluorescence assay with Crithidia luciliae, displaying an annular image due to a kinetoplast containing double stranded DNA. Other structures such as membrane, flagellum and basal corpuscle can be stained as well, showing what is called atypical fluorescent images. As C. luciliae belongs to the Trypanosomatidae family, which include the human pathogens Trypanosoma cruzi and Leishmania spp., it was considered that these atypical images could be caused by cross-reactions. Serological studies for Chagas' disease were performed in 105 serum samples displaying atypical images. Sixty four percent of the samples from non endemic and 78.3% from endemic areas for Chagas' disease showed fluorescence in both, membrane and flagellum (joint image). Fifty samples from normal blood donors and 57 samples from patients with conective tissue diseases were tested with C. luciliae. None of them presented the joint image except for two patients with lupus who were also chagasic. In addition, 54 samples from chagasic patients were studied and all of them presented the joint image. We also studied 46 samples from patients with leishmaniasis from whom 28 were coinfected with T. cruzi. The joint image was observed in 88.0% of the samples with leishmaniasis and in 89.3% of the co-infected samples. The results suggest that C. luciliae could be used as an economical, and of low risk, alternative substrate for the serological diagnosis of Chagas' disease, even though it does not discriminate for Leishmania spp. infection. This study also suggests that whenever atypical images are observed in C. luciliae during the search for anti-DNA antibodies, it would be convenient to submit the patient to clinical and serological tests for the diagnosis of leishmaniosis and Chagas' disease.

Elastomeric Structural Attachment Concepts for Aircraft Flap Noise Reduction - Challenges and Approaches to Hyperelastic Structural Modeling and Analysis

NASA Technical Reports Server (NTRS)

Sreekantamurthy, Thammaiah; Turner, Travis L.; Moore, James B.; Su, Ji

2014-01-01

Airframe noise is a significant part of the overall noise of transport aircraft during the approach and landing phases of flight. Airframe noise reduction is currently emphasized under the Environmentally Responsible Aviation (ERA) and Fixed Wing (FW) Project goals of NASA. A promising concept for trailing-edge-flap noise reduction is a flexible structural element or link that connects the side edges of the deployable flap to the adjacent main-wing structure. The proposed solution is distinguished by minimization of the span-wise extent of the structural link, thereby minimizing the aerodynamic load on the link structure at the expense of increased deformation requirement. Development of such a flexible structural link necessitated application of hyperelastic materials, atypical structural configurations and novel interface hardware. The resulting highly-deformable structural concept was termed the FLEXible Side Edge Link (FLEXSEL) concept. Prediction of atypical elastomeric deformation responses from detailed structural analysis was essential for evaluating feasible concepts that met the design constraints. The focus of this paper is to describe the many challenges encountered with hyperelastic finite element modeling and the nonlinear structural analysis of evolving FLEXSEL concepts. Detailed herein is the nonlinear analysis of FLEXSEL concepts that emerged during the project which include solid-section, foamcore, hollow, extended-span and pre-stressed concepts. Coupon-level analysis performed on elastomeric interface joints, which form a part of the FLEXSEL topology development, are also presented.

Prescription medication changes following direct-to-consumer personal genomic testing: Findings from the Impact of Personal Genomics (PGen) Study

PubMed Central

Carere, Deanna Alexis; VanderWeele, Tyler; Vassy, Jason L.; van der Wouden, Cathelijne; Roberts, J. Scott; Kraft, Peter; Green, Robert C.

2016-01-01

Purpose To measure the frequency of prescription medication changes following direct-to-consumer personal genomic testing (DTC-PGT) and their association with the pharmacogenomic results received. Methods New DTC-PGT customers were enrolled in 2012 and completed surveys prior to return of results and 6 months post-results; DTC-PGT results were linked to survey data. ‘Atypical response’ pharmacogenomic results were defined as those indicating an increase or decrease in risk of an adverse drug event or likelihood of therapeutic benefit. At follow-up, participants reported prescription medication changes and health care provider consultation. Results Follow-up data were available from 961 participants, of which 54 (5.6%) reported changing a medication they were taking, or starting a new medication, due to their DTC-PGT results. Of these, 45 (83.3%) reported consulting with a health care provider regarding the change. Pharmacogenomic results were available for 961 participants, of which 875 (91.2%) received ≥1 atypical response result. For each such result received, the odds of reporting a prescription medication change increased 1.57 times (95% confidence interval = 1.17, 2.11). Conclusion Receipt of pharmacogenomic results indicating atypical drug response is common with DTC-PGT, and associated with prescription medication changes; however, fewer than 1% of consumers report unsupervised changes at 6 months post-testing. PMID:27657683

Detecting subject-specific activations using fuzzy clustering

PubMed Central

Seghier, Mohamed L.; Friston, Karl J.; Price, Cathy J.

2007-01-01

Inter-subject variability in evoked brain responses is attracting attention because it may reflect important variability in structure–function relationships over subjects. This variability could be a signature of degenerate (many-to-one) structure–function mappings in normal subjects or reflect changes that are disclosed by brain damage. In this paper, we describe a non-iterative fuzzy clustering algorithm (FCP: fuzzy clustering with fixed prototypes) for characterizing inter-subject variability in between-subject or second-level analyses of fMRI data. The approach identifies the contribution of each subject to response profiles in voxels surviving a classical F-statistic criterion. The output identifies subjects who drive activation in specific cortical regions (local effects) or in voxels distributed across neural systems (global effects). The sensitivity of the approach was assessed in 38 normal subjects performing an overt naming task. FCP revealed that several subjects had either abnormally high or abnormally low responses. FCP may be particularly useful for characterizing outlier responses in rare patients or heterogeneous populations. In these cases, atypical activations may not be detected by standard tests, under parametric assumptions. The advantage of using FCP is that it searches all voxels systematically and can identify atypical activation patterns in a quantitative and unsupervised manner. PMID:17478103

[Atypical hemolytic and uremic syndrome associated with von Willebrand factor-cleaving protease (ADAMTS 13) deficiency in children].

PubMed

Ben Abdallah Chabchoub, R; Boukedi, A; Bensalah, M; Maalej, B; Gargour, L; Turk, F; Ben Halima, N; Wolf, M; Veyradier, A; Mahfoudh, A

2013-08-01

Hemolytic and uremic syndrome (HUS) is a classical form of thrombotic microangiopathies characterized by the association of hemolytic anemia with schizocytes, thrombocytopenia, and acute renal failure. Two forms of HUS have been described: the typical form that occurs after ingestion of a strain of bacteria, usually Escherichia coli types, which expresses verotoxin (also called shiga-like toxin), typically followed by bloody diarrhea, and atypical HUS, which is rare during childhood and can also be revealed by bloody diarrhea. We report a case of a 25-month-old infant who presented with hematuria and pallor after an episode of diarrhea. Biological tests revealed anemia, thrombocytopenia, and renal failure. The diagnosis of typical HUS was made, but the causal microorganism was not identified. Progression was favorable within 5 days of plasma transfusions. Two months later, the patient presented with the same symptoms and neurological impairment without any diarrhea. Von Willebrand factor-cleaving protease activity (ADAMTS 13) was low. Therefore, the diagnosis of atypical HUS by severe deficiency of ADAMTS 13 was suggested. The treatment was based on plasma transfusions resulting in remission. Atypical HUS associated with severe ADAMTS 13 deficiency rarely occurs in childhood. The prognosis, usually threatening, has been completely transformed thanks to a better understanding of the pathogenesis and to therapeutic progress. Copyright © 2013. Published by Elsevier SAS.

Central hypogonadism due to a giant, "silent" FSH-secreting, atypical pituitary adenoma: effects of adenoma dissection and short-term Leydig cell stimulation by luteinizing hormone (LH) and human chorionic gonadotropin (hCG).

PubMed

Santi, Daniele; Spaggiari, Giorgia; Casarini, Livio; Fanelli, Flaminia; Mezzullo, Marco; Pagotto, Uberto; Granata, Antonio R M; Carani, Cesare; Simoni, Manuela

2017-06-01

We present a case report of an atypical giant pituitary adenoma secreting follicle-stimulating hormone (FSH). A 55-year-old patient presented for erectile dysfunction, loss of libido and fatigue. The biochemical evaluation showed very high FSH serum levels in the presence of central hypogonadism. Neither testicular enlargement nor increased sperm count was observed, thus a secretion of FSH with reduced biological activity was supposed. The histological examination after neuro-surgery showed an atypical pituitary adenoma with FSH-positive cells. Hypogonadism persisted and semen analyses impaired until azoospermia in conjunction with the reduction in FSH levels suggesting that, at least in part, this gonadotropin should be biologically active. Thus, we hypothesized a concomitant primary testicular insufficiency. The patient underwent short-term treatment trials with low doses of either recombinant luteinizing hormone (LH) or human chorionic gonadotropin (hCG) in three consecutive treatment schemes, showing an equal efficacy in stimulating testosterone (T) increase. This is the first case of atypical, giant FSH-secreting pituitary adenoma with high FSH serum levels without signs of testicular hyperstimulation, in presence of hypogonadism with plausible combined primary and secondary etiology. Hypophysectomized patients may represent a good model to assess both pharmacodynamics and effective dose of LH and hCG in the male.

Neurobehavioral Abnormalities in First-Degree Relatives of Individuals With Autism

PubMed Central

Mosconi, Matthew W.; Kay, Margaret; D’Cruz, Anna-Maria; Guter, Stephen; Kapur, Kush; Macmillan, Carol; Stanford, Lisa D.; Sweeney, John A.

2011-01-01

Context Studying sensorimotor and neurocognitive impairments in unaffected family members of individuals with autism may help identify familial pathophysiological mechanisms associated with the disorder. Objective To determine whether atypical sensorimotor or neurocognitive characteristics associated with autism are present in first-degree relatives of individuals with autism. Design Case-control comparison of neurobehavioral functions. Setting University medical center. Participants Fifty-seven first-degree relatives of individuals with autism and 40 age-, sex-, and IQ-matched healthy control participants (aged 8–54 years). Main Outcome Measures Oculomotor tests of sensorimotor responses (saccades and smooth pursuit); procedural learning and response inhibition; neuropsychological tests of motor, memory, and executive functions; and psychological measures of social behavior, communication skills, and obsessive-compulsive behaviors. Results On eye movement testing, family members demonstrated saccadic hypometria, reduced steady-state pursuit gain, and a higher rate of voluntary response inhibition errors relative to controls. They also showed lateralized deficits in procedural learning and open-loop pursuit gain (initial 100 milliseconds of pursuit) and increased variability in the accuracy of large-amplitude saccades that were confined to rightward movements. In neuropsychological studies, only executive functions were impaired relative to those of controls. Family members reported more communication abnormalities and obsessive-compulsive behaviors than controls. Deficits across oculomotor, neuropsychological, and psychological domains were relatively independent from one another. Conclusions Family members of individuals with autism demonstrate oculomotor abnormalities implicating pontocerebellar and frontostriatal circuits and left-lateralized alterations of frontotemporal circuitry and striatum. The left-lateralized alterations have not been identified in other neuropsychiatric disorders and are of interest given atypical brain lateralization and language development associated with the disorder. Similar oculomotor deficits have been reported in individuals with autism, suggesting that they may be familial and useful for studies of neurophysiological and genetic mechanisms in autism. PMID:20679591

Gene expression profiling of Japanese psoriatic skin reveals an increased activity in molecular stress and immune response signals.

PubMed

Kulski, Jerzy K; Kenworthy, William; Bellgard, Matthew; Taplin, Ross; Okamoto, Koichi; Oka, Akira; Mabuchi, Tomotaka; Ozawa, Akira; Tamiya, Gen; Inoko, Hidetoshi

2005-12-01

Gene expression profiling was performed on biopsies of affected and unaffected psoriatic skin and normal skin from seven Japanese patients to obtain insights into the pathways that control this disease. HUG95A Affymetrix DNA chips that contained oligonucleotide arrays of approximately 12,000 well-characterized human genes were used in the study. The statistical analysis of the Affymetrix data, based on the ranking of the Student t-test statistic, revealed a complex regulation of molecular stress and immune gene responses. The majority of the 266 induced genes in affected and unaffected psoriatic skin were involved with interferon mediation, immunity, cell adhesion, cytoskeleton restructuring, protein trafficking and degradation, RNA regulation and degradation, signalling transduction, apoptosis and atypical epidermal cellular proliferation and differentiation. The disturbances in the normal protein degradation equilibrium of skin were reflected by the significant increase in the gene expression of various protease inhibitors and proteinases, including the induced components of the ATP/ubiquitin-dependent non-lysosomal proteolytic pathway that is involved with peptide processing and presentation to T cells. Some of the up-regulated genes, such as TGM1, IVL, FABP5, CSTA and SPRR, are well-known psoriatic markers involved in atypical epidermal cellular organization and differentiation. In the comparison between the affected and unaffected psoriatic skin, the transcription factor JUNB was found at the top of the statistical rankings for the up-regulated genes in affected skin, suggesting that it has an important but as yet undefined role in psoriasis. Our gene expression data and analysis suggest that psoriasis is a chronic interferon- and T-cell-mediated immune disease of the skin where the imbalance in epidermal cellular structure, growth and differentiation arises from the molecular antiviral stress signals initiating inappropriate immune responses.

The quetiapine active metabolite N-desalkylquetiapine and the neurotensin NTS₁ receptor agonist PD149163 exhibit antidepressant-like effects on operant responding in male rats.

PubMed

Hillhouse, Todd M; Shankland, Zachary; Matazel, Katelin S; Keiser, Ashley A; Prus, Adam J

2014-12-01

Major depressive disorder is the most common mood disorder in the United States and European Union; however, the limitations of clinically available antidepressant drugs have led researchers to pursue novel pharmacological treatments. Clinical studies have reported that monotherapy with the atypical antipsychotic drug quetiapine produces a rapid reduction in depressive symptoms that is apparent after 1 week of treatment, and it is possible that the active metabolite N-desalkylquetiapine, which structurally resembles an antidepressant drug, produces antidepressant effects. Neuropharmacological evaluations of the neurotensin NTS1 receptor agonist PD149163 suggest antidepressant efficacy, but the effects of a NTS₁ receptor agonist in an antidepressant animal model have yet to be reported. The present study examined the antidepressant-like effects of N-desalkylquetiapine, PD14916, quetiapine, the tricyclic antidepressant drug imipramine, the atypical antipsychotic drug risperidone, and the typical antipsychotic drug raclopride on responding in male Sprague-Dawley rats trained on a differential-reinforcement-of-low-rate 72-s operant schedule, a procedure used for screening antidepressant drugs. Quetiapine, PD149163, risperidone, and imipramine exhibited antidepressant-like effects by increasing the number of reinforcers earned, decreasing the number of responses emitted, and shifting the interresponse time (IRT) distributions to the right. N-Desalkylquetiapine produced a partial antidepressant-like effect by decreasing the number of responses emitted and producing a rightward shift in the IRT distributions, but it did not significantly alter the number of reinforcers earned. Raclopride decreased reinforcers and responses. These data suggest that N-desalkylquetiapine likely contributes to quetiapine's antidepressant efficacy and identify NTS₁ receptor activation as a potential novel pharmacologic strategy for antidepressant drugs. PsycINFO Database Record (c) 2014 APA, all rights reserved.

Neurobehavioral abnormalities in first-degree relatives of individuals with autism.

PubMed

Mosconi, Matthew W; Kay, Margaret; D'Cruz, Anna-Maria; Guter, Stephen; Kapur, Kush; Macmillan, Carol; Stanford, Lisa D; Sweeney, John A

2010-08-01

Studying sensorimotor and neurocognitive impairments in unaffected family members of individuals with autism may help identify familial pathophysiological mechanisms associated with the disorder. To determine whether atypical sensorimotor or neurocognitive characteristics associated with autism are present in first-degree relatives of individuals with autism. Case-control comparison of neurobehavioral functions. University medical center. Fifty-seven first-degree relatives of individuals with autism and 40 age-, sex-, and IQ-matched healthy control participants (aged 8-54 years). Oculomotor tests of sensorimotor responses (saccades and smooth pursuit); procedural learning and response inhibition; neuropsychological tests of motor, memory, and executive functions; and psychological measures of social behavior, communication skills, and obsessive-compulsive behaviors. On eye movement testing, family members demonstrated saccadic hypometria, reduced steady-state pursuit gain, and a higher rate of voluntary response inhibition errors relative to controls. They also showed lateralized deficits in procedural learning and open-loop pursuit gain (initial 100 milliseconds of pursuit) and increased variability in the accuracy of large-amplitude saccades that were confined to rightward movements. In neuropsychological studies, only executive functions were impaired relative to those of controls. Family members reported more communication abnormalities and obsessive-compulsive behaviors than controls. Deficits across oculomotor, neuropsychological, and psychological domains were relatively independent from one another. Family members of individuals with autism demonstrate oculomotor abnormalities implicating pontocerebellar and frontostriatal circuits and left-lateralized alterations of frontotemporal circuitry and striatum. The left-lateralized alterations have not been identified in other neuropsychiatric disorders and are of interest given atypical brain lateralization and language development associated with the disorder. Similar oculomotor deficits have been reported in individuals with autism, suggesting that they may be familial and useful for studies of neurophysiological and genetic mechanisms in autism.

[Initial experiences with amisulpride, an in Germany novel, atypical neuroleptic drug in treatment of adolescents with psychiatric disorders].

PubMed

Göpel, C; Marcus, A

2001-08-01

In addition to conventional antipsychotic drugs, during the past decade an increasing number of atypical neuroleptics has been introduced in the treatment of juvenile schizophrenic and schizoaffective disorders. In 1999 Germany legalized the benzamide amisulpride for the treatment of acute and chronic schizophrenic symptoms. Preliminary treatment results are reported here. Ten adolescent cases are presented with regard to the efficacy, side effects and dosage of amisulpride. Preliminary results on the use of amisulpride are promising. The rate of side effects is tolerable. Amisulprise seems to constitute a useful alternative in the treatment of juvenile schizophrenia for those who suffer from intolerable side effects of classical or atypical neuroleptics. Controlled studies are warranted to further clarify its efficacy and safety in the treatment of adolescents.

Recurrent conjunctival atypical fibroxanthoma in Pigmentosum Xeroderma.

PubMed

Cerdà-Ibáñez, M; Barreiro-González, A; Barranco González, H; Aviñó Martínez, J; Évole-Buselli, M; Harto-Castaño, M Á

2018-02-01

A 7 year-old boy with Xeroderma Pigmentosum (XP) and who presents a recurrent conjunctival atypical fibroxanthoma after two surgeries. This is the third procedure and the patient is treated with a surgical excision of the tumour and cryotherapy at the surgical bed. Due to the risk of recurrence, topical Mitomycin C 0,02% was added at post-operative care achieving a good clinical outcome. Surgical exeresis with cryotherapy and topical Mitomycin C is an effective treatment for a case of an atypical fibroxanthoma with a high potential for recurrence and invasion. An ophthalmologic follow-up is required for these patients, as well as general paediatric care and support aids. Copyright © 2017 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

Atypical Pityriasis rosea in a black child: a case report

PubMed Central

2009-01-01

Introduction Pityriasis rosea is a self-limited inflammatory condition of the skin that mostly affects healthy children and adolescents. Atypical cases of Pityriasis rosea are fairly common and less readily recognized than typical eruptions, and may pose a diagnostic challenge. Case presentation We report the case of a 12-year-old black child that developed an intense pruritic papular eruption with intense facial involvement that was diagnosed of Pityriasis rosea and resolved after five weeks leaving a slight hyperpigmentation. Conclusion Facial and scalp involvement, post-inflammatory disorders of pigmentation and papular lesions are characteristics typically associated to black patients with Pityriasis rosea. The knowledge of features found more frequently in dark-skinned population may be helpful to physicians for diagnosing an atypical Pityriasis rosea in these patients. PMID:20181179

Prenatal Cocaine Exposure Impacts Language and Reading Into Late Adolescence: Behavioral and ERP Evidence.

PubMed

Landi, Nicole; Avery, Trey; Crowley, Michael J; Wu, Jia; Mayes, Linda

2017-01-01

Extant research documents impaired language among children with prenatal cocaine exposure (PCE) relative to nondrug exposed (NDE) children, suggesting that cocaine alters development of neurobiological systems that support language. The current study examines behavioral and neural (electrophysiological) indices of language function in older adolescents. Specifically, we compare performance of PCE (N = 59) and NDE (N = 51) adolescents on a battery of cognitive and linguistic assessments that tap word reading, reading comprehension, semantic and grammatical processing, and IQ. In addition, we examine event related potential (ERP) responses in in a subset of these children across three experimental tasks that examine word level phonological processing (rhyme priming), word level semantic processing (semantic priming), and sentence level semantic processing (semantic anomaly). Findings reveal deficits across a number of reading and language assessments, after controlling for socioeconomic status and exposure to other substances. Additionally, ERP data reveal atypical orthography to phonology mapping (reduced N1/P2 response) and atypical rhyme and semantic processing (N400 response). These findings suggest that PCE continues to impact language and reading skills into the late teenage years.

Clinical and laboratory aspects of Legionnaire's disease.

PubMed

Strampfer, M J; Cunha, B A

1987-12-01

Legionnaires' disease is an illness with protean manifestations that are due to infection with Legionella pneumophila. It occurs both in epidemic and sporadic form and usually presents as an atypical pneumonia. Relative bradycardia, abnormal liver function test results, and a patient presenting with an atypical pneumonia should alert the clinician to the possibility of Legionella. The presence of systemic involvement, specifically neurological, gastrointestinal, and renal abnormalities, should further suggest the diagnosis. Patients may demonstrate multiple extrapulmonary manifestations of legionnaires' disease, sometimes without pneumonia. Several methods are available to aid the clinician in making the diagnosis of legionnaires' disease, and the use of all tests will increase the overall sensitivity.

[Bartonella henselae vertebral osteomyelitis: report of a case].

PubMed

Juan Zepeda, T; Jorge Morales, S; Hugo Letelier, A; Luis Delpiano, M

2016-01-01

Cat scratch disease (CSD) is caused by Bartonella henselae, with unknown prevalence and incidence in the Chilean paediatric population. Regional lymphadenopathy is the most common presentation, while atypical forms constitute a diagnostic challenge. To report a case of CSD with osteomyelitis and present guidelines regarding treatment. An eight year-old patient, with prolonged febrile illness, back pain and neck stiffness. Laboratory studies highlight positive IgG for Bartonella henselae. The abdominal ultrasound showed splenic micro-abscesses, and the MRI showing vertebral lesions suggestive of osteomyelitis. The diagnosis of atypical forms requires a high rate of suspicion, as in this case, in which the patient manifested the musculoskeletal symptoms simultaneously with the febrile syndrome, which led us to study possible complications of the disease. Current knowledge of the treatment of atypical or complicated CSD is derived from the observation of case studies, rather than randomized trials. It is suggested that antibiotic therapy is analysed individually, with the help of a specialist. The importance of high clinical suspicion are emphasised and discussed, as well presenting some treatment options based on the evidence from the current literature. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Osteoblastoma of body of the talus--Report of a rare case with atypical radiological features.

PubMed

Mir, Naseer Ahmed; Baba, Asif Nazir; Maajid, Saheel; Badoo, Abdul Rashid; Mir, Ghulam Rasool

2010-06-01

Osteoblastoma is a benign bone tumour found commonly in the spine and long tubular bones. Involvement of the talus is uncommon, and when present, is found in the neck of the talus. Osteoblastoma of the body of talus is a very rare entity. We report a young male, presenting as chronic ankle pain, with a radiolucent lesion with a thick periosteal shell in the body of the talus. Analysis of clinical, radiological and histological findings confirmed the diagnosis of osteoblastoma. The case is reported for the rarity of the site and atypical radiological features that osteoblastoma can present with. Copyright 2009 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.

The clinics of acute coronary syndrome

PubMed Central

Rastelli, Gianni

2016-01-01

Risk stratification and management of patients with chest pain continues to be challenging despite considerable efforts made in the last decades by many clinicians and researchers. The throutful evaluation necessitates that the physicians have a high index of suspicion for acute coronary syndrome (ACS) and always keep in mind the myriad of often subtle and atypical presentations of ischemic heart disease, especially in certain patient populations such as the elderly ones. In this article we aim to review and discuss the available evidence on the value of clinical presentation in patients with a suspected ACS, with special emphasis on history, characteristics of chest pain, associated symptoms, atypical presentations, precipitating and relieving factors, drugs, clinical rules and significance of clinical Gestalt. PMID:27294087

[Tuberculous meningitis with atypical presentation in a patient with human immunodeficiency virus infection].

PubMed

López, M T; Lluch, M; Fernández-Solá, J; Coca, A; Urbano-Márquez, A

1992-04-11

A 32 years old male patient is described with infection by the human immunodeficiency virus (HIV) on stage IV C1 and with positive Ag p24 who developed tuberculous meningitis of atypical presentation. A persistent liquoral neutrophilia and low adenosindeaminase values were observed in cerebrospinal fluid of purulent appearance. The patient responded badly to tuberculostatic treatment and died. In the antibiogram carried out resistance to Mycobacterium tuberculosis was observed to rifampicine and isoniazide, two of the five drugs the patient had received. The peculiarities of the clinical form of presentation similar to purulent bacterian meningitis are discussed, and the possible influence of HIV infection and the antibiotic multiresistance observed in the bad evolution of the tuberculous meningitis which the patient developed.

Blindness, dancing extremities, and corpus callosum and brain stem involvement: an unusual presentation of fulminant subacute sclerosing panencephalitis.

PubMed

Singhi, Pratibha; Saini, Arushi Gahlot; Sankhyan, Naveen; Gupta, Pankaj; Vyas, Sameer

2015-01-01

A 4-year-old girl presented with acute visual loss followed 2 weeks later with loss of speech and audition, fulminant neuroregression, and choreo-athetoid movements of extremities. Fundus showed bilateral chorioretinitis. Electroencephalography showed periodic complexes. Measles antibody titers were elevated in both serum and cerebrospinal fluid, consistent with subacute sclerosing panencephalitis. Neuroimaging showed discontiguous involvement of splenium of the corpus callosum and ventral pons with sparing of cortical white matter. Our case highlights the atypical clinical and radiologic presentations of subacute sclerosing panencephalitis. Pediatricians need to be aware that necrotizing chorioretinitis in a child and/or atypical brain stem changes could be the heralding feature of this condition in endemic countries. © The Author(s) 2014.

[Atypical manifestations in familial type 1 Waardenburg syndrome].

PubMed

Sans, B; Calvas, P; Bazex, J

1998-01-01

Waardenburg syndrome is an uncommon genetic disorder. Four clinical types are recognized. Three responsible genes have been identified (PAX 3: for type I syndrome, MITF and EDN3 for types II and IV respectively). We report the case of a patient with Waardenburg type I morphotype who had atypical neurological manifestations. Decisive elements for diagnosis were the presence of Waardenburg syndrome in the family and, in affected kin, a mutation causing a shift in PAX 3 gene reading. This case confirms the variability of Waardenburg signs within one family. The association of unusual neurological manifestations in the proband suggested that Vogt Koyanagi Harada disease may have been associated and may show some relationship with familial Waardenburg syndrome.

Relationship between atypical depression and social anxiety disorder.

PubMed

Koyuncu, Ahmet; Ertekin, Erhan; Ertekin, Banu Aslantaş; Binbay, Zerrin; Yüksel, Çağrı; Deveci, Erdem; Tükel, Raşit

2015-01-30

In this study, we aimed to investigate the effects of atypical and non-atypical depression comorbidity on the clinical characteristics and course of social anxiety disorder (SAD). A total of 247 patients with SAD were enrolled: 145 patients with a current depressive episode (unipolar or bipolar) with atypical features, 43 patients with a current depressive episode with non-atypical features and 25 patients without a lifetime history of depressive episodes were compared regarding sociodemographic and clinical features, comorbidity rates, and severity of SAD, depression and functional impairment. Thirty four patients with a past but not current history of major depressive episodes were excluded from the comparisons. 77.1% of current depressive episodes were associated with atypical features. Age at onset of SAD and age at initial major depressive episode were lower in the group with atypical depression than in the group with non-atypical depression. History of suicide attempts and bipolar disorder comorbidity was more common in the atypical depression group as well. Atypical depression group has higher SAD and depression severity and lower functionality than group with non-atypical depression. Our results indicate that the presence of atypical depression is associated with more severe symptoms and more impairment in functioning in patients with SAD. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

A typical presentations of hypothyroidism and associated problems in Ibadan, Nigeria.

PubMed

Balogun, F M; Jarrett, O O

2015-06-01

Hypothyroidism can present atypically making its recognition difficult especially in resource limited settings. CASE PRESENTATION AND MANAGEMENT: Two children presented with atypical features of hypothyroidism with resultant delay in diagnosis. Patient I presented with persistent respiratory distress, facial swelling and recurrent syncopal attacks. Cardiovascular examination was normal except for pulmonary hypertension. He did not respond to conventional supportive therapy and hypothyroidism was discovered much later. Patient II was a seven month old male infant with abdominal swelling, bilateral pitting leg oedema, poor weight gain and delayed developmental milestones. Examination revealed ascites and pericardial effusion. He was being managed for protein energy malnutrition until he was found to have hypothyroidism and was successfully managed with L thyroxin. A typical presentations of hypothyroidism in resource limited settings can result in delay in diagnosis and treatment which can lead to unnecessary morbidity and mortality. High index of suspicion and expertise are therefore required.

Atypical central auditory speech-sound discrimination in children who stutter as indexed by the mismatch negativity.

PubMed

Jansson-Verkasalo, Eira; Eggers, Kurt; Järvenpää, Anu; Suominen, Kalervo; Van den Bergh, Bea; De Nil, Luc; Kujala, Teija

2014-09-01

Recent theoretical conceptualizations suggest that disfluencies in stuttering may arise from several factors, one of them being atypical auditory processing. The main purpose of the present study was to investigate whether speech sound encoding and central auditory discrimination, are affected in children who stutter (CWS). Participants were 10 CWS, and 12 typically developing children with fluent speech (TDC). Event-related potentials (ERPs) for syllables and syllable changes [consonant, vowel, vowel-duration, frequency (F0), and intensity changes], critical in speech perception and language development of CWS were compared to those of TDC. There were no significant group differences in the amplitudes or latencies of the P1 or N2 responses elicited by the standard stimuli. However, the Mismatch Negativity (MMN) amplitude was significantly smaller in CWS than in TDC. For TDC all deviants of the linguistic multifeature paradigm elicited significant MMN amplitudes, comparable with the results found earlier with the same paradigm in 6-year-old children. In contrast, only the duration change elicited a significant MMN in CWS. The results showed that central auditory speech-sound processing was typical at the level of sound encoding in CWS. In contrast, central speech-sound discrimination, as indexed by the MMN for multiple sound features (both phonetic and prosodic), was atypical in the group of CWS. Findings were linked to existing conceptualizations on stuttering etiology. The reader will be able (a) to describe recent findings on central auditory speech-sound processing in individuals who stutter, (b) to describe the measurement of auditory reception and central auditory speech-sound discrimination, (c) to describe the findings of central auditory speech-sound discrimination, as indexed by the mismatch negativity (MMN), in children who stutter. Copyright © 2014 Elsevier Inc. All rights reserved.

Decrease in Numbers of Naive and Resting B Cells in HIV-Infected Kenyan Adults Leads to a Proportional Increase in Total and Plasmodium falciparum-Specific Atypical Memory B Cells.

PubMed

Frosch, Anne E; Odumade, Oludare A; Taylor, Justin J; Ireland, Kathleen; Ayodo, George; Ondigo, Bartholomew; Narum, David L; Vulule, John; John, Chandy C

2017-06-15

Human immunodeficiency virus type 1 (HIV-1) infection is associated with B cell activation and exhaustion, and hypergammaglobulinemia. How these changes influence B cell responses to coinfections such as malaria is poorly understood. To address this, we compared B cell phenotypes and Abs specific for the Plasmodium falciparum vaccine candidate apical membrane Ag-1 (AMA1) in HIV-infected and uninfected adults living in Kenya. Surprisingly, HIV-1 infection was not associated with a difference in serum AMA1-specific Ab levels. HIV-infected individuals had a higher proportion of total atypical and total activated memory B cells (MBCs). Using an AMA1 tetramer to detect AMA1-specific B cells, HIV-infected individuals were also shown to have a higher proportion of AMA1-specific atypical MBCs. However, this proportional increase resulted in large part from a loss in the number of naive and resting MBCs rather than an increase in the number of atypical and activated cells. The loss of resting MBCs and naive B cells was mirrored in a population of cells specific for an Ag to which these individuals were unlikely to have been chronically exposed. Together, the data show that changes in P. falciparum Ag-specific B cell subsets in HIV-infected individuals mirror those in the overall B cell population, and suggest that the increased proportion of atypical MBC phenotypes found in HIV-1-infected individuals results from the loss of naive and resting MBCs. Copyright © 2017 by The American Association of Immunologists, Inc.

Vitamin D deficiency, behavioral atypicality, anxiety and depression in children with chromosome 22q11.2 deletion syndrome

PubMed Central

Kelley, L.; Sanders, A. F. P.; Beaton, E. A.

2018-01-01

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a complex developmental disorder with serious medical, cognitive and emotional symptoms across the lifespan. This genetic deletion also imparts a lifetime risk for developing schizophrenia that is 25–30 times that of the general population. The origin of this risk is multifactorial and may include dysregulation of the stress response and immunological systems in relation to brain development. Vitamin D is involved in brain development and neuroprotection, gene transcription, immunological regulation and influences neuronal signal transduction. Low levels of vitamin D are associated with schizophrenia, depression and anxiety in the general population. Yet, little is known about how vitamin D levels in children with 22q11.2DS could mediate risk of psychosis in adulthood. Blood plasma levels of vitamin D were measured in children aged 7–16 years with (n = 11) and without (n = 16) 22q11.2DS in relation to parent reports of children’s anxiety and atypicality. Anxiety and atypicality in childhood are risk indicators for the development of schizophrenia in those with 22q11.2DS and the general population. Children with 22q11.2DS had lower vitamin D levels, as well as elevated anxiety and atypicality compared with typical peers. Higher levels of anxiety, depression and internalizing problems but not atypicality were associated with lower levels of vitamin D. Vitamin D insufficiency may relate to higher levels of anxiety and depression, in turn contributing to the elevated risk of psychosis in this population. Further study is required to determine casual linkages between anxiety, stress, mood and vitamin D in children with 22q11.2DS. PMID:27827293

Vitamin D deficiency, behavioral atypicality, anxiety and depression in children with chromosome 22q11.2 deletion syndrome.

PubMed

Kelley, L; Sanders, A F P; Beaton, E A

2016-12-01

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a complex developmental disorder with serious medical, cognitive and emotional symptoms across the lifespan. This genetic deletion also imparts a lifetime risk for developing schizophrenia that is 25-30 times that of the general population. The origin of this risk is multifactorial and may include dysregulation of the stress response and immunological systems in relation to brain development. Vitamin D is involved in brain development and neuroprotection, gene transcription, immunological regulation and influences neuronal signal transduction. Low levels of vitamin D are associated with schizophrenia, depression and anxiety in the general population. Yet, little is known about how vitamin D levels in children with 22q11.2DS could mediate risk of psychosis in adulthood. Blood plasma levels of vitamin D were measured in children aged 7-16 years with (n=11) and without (n=16) 22q11.2DS in relation to parent reports of children's anxiety and atypicality. Anxiety and atypicality in childhood are risk indicators for the development of schizophrenia in those with 22q11.2DS and the general population. Children with 22q11.2DS had lower vitamin D levels, as well as elevated anxiety and atypicality compared with typical peers. Higher levels of anxiety, depression and internalizing problems but not atypicality were associated with lower levels of vitamin D. Vitamin D insufficiency may relate to higher levels of anxiety and depression, in turn contributing to the elevated risk of psychosis in this population. Further study is required to determine casual linkages between anxiety, stress, mood and vitamin D in children with 22q11.2DS.

Contributions of visual and embodied expertise to body perception.

PubMed

Reed, Catherine L; Nyberg, Andrew A; Grubb, Jefferson D

2012-01-01

Recent research has demonstrated that our perception of the human body differs from that of inanimate objects. This study investigated whether the visual perception of the human body differs from that of other animate bodies and, if so, whether that difference could be attributed to visual experience and/or embodied experience. To dissociate differential effects of these two types of expertise, inversion effects (recognition of inverted stimuli is slower and less accurate than recognition of upright stimuli) were compared for two types of bodies in postures that varied in typicality: humans in human postures (human-typical), humans in dog postures (human-atypical), dogs in dog postures (dog-typical), and dogs in human postures (dog-atypical). Inversion disrupts global configural processing. Relative changes in the size and presence of inversion effects reflect changes in visual processing. Both visual and embodiment expertise predict larger inversion effects for human over dog postures because we see humans more and we have experience producing human postures. However, our design that crosses body type and typicality leads to distinct predictions for visual and embodied experience. Visual expertise predicts an interaction between typicality and orientation: greater inversion effects should be found for typical over atypical postures regardless of body type. Alternatively, embodiment expertise predicts a body, typicality, and orientation interaction: larger inversion effects should be found for all human postures but only for atypical dog postures because humans can map their bodily experience onto these postures. Accuracy data supported embodiment expertise with the three-way interaction. However, response-time data supported contributions of visual expertise with larger inversion effects for typical over atypical postures. Thus, both types of expertise affect the visual perception of bodies.

Hyperconnectivity of the Right Posterior Temporo-parietal Junction Predicts Social Difficulties in Boys with Autism Spectrum Disorder.

PubMed

Chien, Hsiang-Yun; Lin, Hsiang-Yuan; Lai, Meng-Chuan; Gau, Susan Shur-Fen; Tseng, Wen-Yih Isaac

2015-08-01

The posterior right temporo-parietal junction (pRTPJ) is a key brain region representing other's mental status. Despite reports of atypical activation at pRTPJ during mentalizing in individuals with autism spectrum disorder (ASD), the intrinsic functional connectivity (iFC) of the pRTPJ remains under-investigated. We examined whether boys with ASD show altered resting-state iFC of the pRTPJ, and whether atypical iFC of the pRTPJ is associated with social deficits in ASD in a sample of 40 boys with high-functioning ASD (aged 9-17 years, mean age, 12.38 ± 2.17; mean IQ, 105.60 ± 16.06) and 42 typically developing (TD) boys (aged 9-17 years, mean age, 11.64 ± 2.71; mean IQ, 111.29 ± 13.45). Both groups received resting-state fMRI assessment after imaging data quality control for in-scanner head motion and spatial coverage. Seed-based approach was used to investigate iFC of the pRTPJ. TD and ASD boys demonstrated a resting-state pRTPJ iFC pattern comparable to the known spatial involvement of the default-mode network. Boys with ASD showed pRTPJ hyperconnectivity relative to TD boys in the right ventral occipito-temporal cortex. This atypically increased iFC in the ASD group was positively correlated with social deficits assessed by the Chinese version of the Autism Diagnostic Interview-Revised and the Social Responsive Scale. Our findings provide empirical support for functional "dysconnectivity," that is, atypical functional integration among brain regions, as an integral component of the atypical neurobiology of ASD. © 2015 International Society for Autism Research, Wiley Periodicals, Inc.

Role of protein kinase C in the induction and maintenance of serotonin-dependent enhancement of the glutamate response in isolated siphon motor neurons of Aplysia californica.

PubMed

Villareal, Greg; Li, Quan; Cai, Diancai; Fink, Ann E; Lim, Travis; Bougie, Joanna K; Sossin, Wayne S; Glanzman, David L

2009-04-22

Serotonin (5-HT) mediates learning-related facilitation of sensorimotor synapses in Aplysia californica. Under some circumstances 5-HT-dependent facilitation requires the activity of protein kinase C (PKC). One critical site of PKC's contribution to 5-HT-dependent synaptic facilitation is the presynaptic sensory neuron. Here, we provide evidence that postsynaptic PKC also contributes to synaptic facilitation. We investigated the contribution of PKC to enhancement of the glutamate-evoked potential (Glu-EP) in isolated siphon motor neurons in cell culture. A 10 min application of either 5-HT or phorbol ester, which activates PKC, produced persistent (> 50 min) enhancement of the Glu-EP. Chelerythrine and bisindolylmaleimide-1 (Bis), two inhibitors of PKC, both blocked the induction of 5-HT-dependent enhancement. An inhibitor of calpain, a calcium-dependent protease, also blocked 5-HT's effect. Interestingly, whereas chelerythrine blocked maintenance of the enhancement, Bis did not. Because Bis has greater selectivity for conventional and novel isoforms of PKC than for atypical isoforms, this result implicates an atypical isoform in the maintenance of 5-HT's effect. Although induction of enhancement of the Glu-EP requires protein synthesis (Villareal et al., 2007), we found that maintenance of the enhancement does not. Maintenance of 5-HT-dependent enhancement appears to be mediated by a PKM-type fragment generated by calpain-dependent proteolysis of atypical PKC. Together, our results suggest that 5-HT treatment triggers two phases of PKC activity within the motor neuron, an early phase that may involve conventional, novel or atypical isoforms of PKC, and a later phase that selectively involves an atypical isoform.

Sensory atypicalities in dyads of children with autism spectrum disorder (ASD) and their parents.

PubMed

Glod, Magdalena; Riby, Deborah M; Honey, Emma; Rodgers, Jacqui

2017-03-01

Sensory atypicalities are a common feature of autism spectrum disorder (ASD). To date, the relationship between sensory atypicalities in dyads of children with ASD and their parents has not been investigated. Exploring these relationships can contribute to an understanding of how phenotypic profiles may be inherited, and the extent to which familial factors might contribute towards children's sensory profiles and constitute an aspect of the broader autism phenotype (BAP). Parents of 44 children with ASD and 30 typically developing (TD) children, aged between 3 and 14 years, participated. Information about children's sensory experiences was collected through parent report using the Sensory Profile questionnaire. Information about parental sensory experiences was collected via self-report using the Adolescent/Adult Sensory Profile. Parents of children with ASD had significantly higher scores than parents of TD children in relation to low registration, over responsivity, and taste/smell sensory processing. Similar levels of agreement were obtained within ASD and TD parent-child dyads on a number of sensory atypicalities; nevertheless significant correlations were found between parents and children in ASD families but not TD dyads for sensation avoiding and auditory, visual, and vestibular sensory processing. The findings suggest that there are similarities in sensory processing profiles between parents and their children in both ASD and TD dyads. Familial sensory processing factors are likely to contribute towards the BAP. Further work is needed to explore genetic and environmental influences on the developmental pathways of the sensory atypicalities in ASD. Autism Res 2017, 10: 531-538. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

Atypical patterns of respiratory sinus arrhythmia index an endophenotype for depression

PubMed Central

Yaroslavsky, Ilya; Rottenberg, Jonathan; Kovacs, Maria

2015-01-01

Can atypical patterns of parasympathetic nervous system activity serve as endophenotypes for depression? Using respiratory sinus arrhythmia (RSA) as an index of parasympathetic nervous system function, we examined this question in two studies: one involving mothers with and without depression histories and their offspring (at high and low risk for depression, respectively), and a further study of adolescent sibling pairs concordant and discordant for major depression. In both studies, subjects were exposed to sad mood induction; subjects’ RSA was monitored during rest periods and in response to the mood induction. We used Gottesman and Gould’s (2003) criteria for an endophenotype and a priori defined “atypical” and “normative” RSA patterns (combinations of resting RSA and RSA reactivity). We found that atypical RSA patterns (a) predicted current depressive episodes and remission status among women with histories of juvenile onset depression and healthy controls, (b) predicted longitudinal trajectories of depressive symptoms among high- and low-risk young offspring, (c) were concordant across mothers and their juvenile offspring, (d) were more prevalent among never-depressed youth at high risk for depression than their low-risk peers, and (e) were more concordant across adolescent sibling pairs in which both versus only one had a history of major depression. Thus, the results support atypical RSA patterns as an endophenotype for depression. Possible mechanisms by which RSA patterns increase depression risk and their genetic contributors are discussed. PMID:25422965

Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant.

PubMed

Tenney, Jeffrey R; Prada, Carlos E; Hopkin, Robert J; Hallinan, Barbara E

2013-12-01

Leigh syndrome, due to a dysfunction of mitochondrial energy metabolism, is a genetically heterogeneous and progressive neurologic disorder that usually occurs in infancy and childhood. Its clinical presentation and neuroimaging findings can be variable, especially early in the course of the disease. This report presents a patient with infantile Leigh syndrome who had atypical radiologic findings on serial neuroimaging studies with early and severe involvement of the cervical spinal cord and brainstem and injury to the thalami and basal ganglia occurring only late in the clinical course. Postmortem microscopic examination supported this timing of injury within the central nervous system. In addition, mitochondrial deoxyribonucleic acid sequencing showed a novel homoplasmic variant that could be responsible for this unique lethal form of Leigh syndrome.

Pharmacokinetics of bambuterol in subjects homozygous for the atypical gene for plasma cholinesterase

PubMed Central

Bang, Ulla; Nyberg, Lars; Rosenborg, Johan; Viby-Mogensen, Jørgen

1998-01-01

Aims It has been assumed that both plasma cholinesterase (EC 3.1.1.8) and oxidative enzymes are needed for optimum formation of the bronchodilator terbutaline from its biscarbamate prodrug bambuterol. The present study aimed at investigating the fate of bambuterol in subjects with deficient plasma cholinesterase but with normal oxidative (CYP2D6) capability. Methods The pharmacokinetics of bambuterol and terbutaline were studied in four healthy subjects (two men and two women) being homozygous for the atypical gene for plasma cholinesterase. Their oxidative metabolism was apparently good as they were all rapid metabolizers of debrisoquine. Bambuterol hydrochloride 20 mg was given orally once daily for 10 days, and plasma and urine samples were taken for 1.5 days (plasma) and 4.5 days (urine) after administration of the last dose. Results The pharmacokinetic parameters in the present study were grossly similar to those found in a study of bambuterol in subjects with normal plasma cholinesterase activity (N). However, subjects with atypical cholinesterase had a shorter terminal half-life of bambuterol (a measure of uptake rate), 4.8–12.6 h vs 8.3–22.3 h in N, and slightly higher plasma concentrations of bambuterol (average concentrations 1.9–3.7 nmol l−1vs 1.5–3.1 nmol l−1 in N). Peak/trough terbutaline plasma concentrations ratios (2.1–3.2) were somewhat increased, but average plasma concentrations (8.3–14.5 nmol l−1) and terminal half-life (16.5–21.8 h) of terbutaline did not differ. Conclusions In Caucasian populations, one subject out of 2500 is homozygous for the atypical gene for plasma cholinesterase. The atypical enzyme has a much lower affinity for bambuterol than the normal enzyme. Nevertheless, the subjects with atypical cholinesterase were able to produce terbutaline as efficiently as normal subjects. This might be explained by an altered uptake and metabolism in the absence of plasma cholinesterase, or the importance of this enzyme for the formation of terbutaline from bambuterol in vivo may have been overestimated. PMID:9643621

[Neonatal meningitis caused by atypical Streptococcus pneumoniae: case report and review].

PubMed

Silva B, Verónica; Castillo F, Felipe; O Reilly F, Paula; Araya B, Isabel; Porte T, Lorena; Ulloa F, M Teresa; Varela A, Carmen; Zamorano R, Juanita

2006-12-01

Streptococcus pneumoniae is a rarely recognized cause of neonatal sepsis and/or meningitis, but it is associated with substantial morbidity and mortality. Traditionally, S. pneumoniae is identified in the laboratory by demonstrating susceptibility to optochin. However, the emergence of optochin-resistant organisms makes definite identification difficult when only phenotypic tests are taken as markers. We present the case of a severe early-onset neonatal meningitis due to an atypical strain of S. pneumoniae. Laboratory methods utilized to certify this species diagnosis are discussed.

Atypical antipsychotic (clozapine) self-poisoning in late pregnancy presenting with absent fetal heart rate variability without acidosis and delayed peristalsis in the newborn baby: a case report.

PubMed

Novikova, N; Chitnis, M; Linder, V; Hofmeyr, G J

2009-08-01

A case of an attempted suicide with atypical antipsychotic (clozapine) in late pregnancy is reported. Toxic effects of clozapine in the mother as well as in the fetus and newborn were observed. It should be remembered as a rare cause of unexplained loss of consciousness in pregnant women, a cause of abnormalities on fetal cardiotocogram as well as a cause of delayed peristalsis in a newborn baby.

Atypical sarcoidosis-associated uveitis: diagnostic challenges.

PubMed

Cehajic Kapetanovic, Jasmina; Jones, Nicholas P; Steeples, Laura R

2018-05-30

Sarcoidosis is a multisystem disease of unknown aetiology with pulmonary involvement in most patients. Uveitis is common and often characteristic. We report a case of ocular sarcoidosis with grossly atypical contiguous optic neuropathy and choroiditis and describe the diagnostic challenges in this highly unusual presentation. High-dose systemic corticosteroid and immunosuppressive treatment was required for sustained control of intraocular inflammation. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Atypical scrapie in sheep from a UK research flock which is free from classical scrapie

PubMed Central

Simmons, Hugh A; Simmons, Marion M; Spencer, Yvonne I; Chaplin, Melanie J; Povey, Gill; Davis, Andrew; Ortiz-Pelaez, Angel; Hunter, Nora; Matthews, Danny; Wrathall, Anthony E

2009-01-01

Background In the wake of the epidemic of bovine spongiform encephalopathy the British government established a flock of sheep from which scrapie-free animals are supplied to laboratories for research. Three breeds of sheep carrying a variety of different genotypes associated with scrapie susceptibility/resistance were imported in 1998 and 2001 from New Zealand, a country regarded as free from scrapie. They are kept in a purpose-built Sheep Unit under strict disease security and are monitored clinically and post mortem for evidence of scrapie. It is emphasised that atypical scrapie, as distinct from classical scrapie, has been recognised only relatively recently and differs from classical scrapie in its clinical, neuropathological and biochemical features. Most cases are detected in apparently healthy sheep by post mortem examination. Results The occurrence of atypical scrapie in three sheep in (or derived from) the Sheep Unit is reported. Significant features of the affected sheep included their relatively high ages (6 y 1 mo, 7 y 9 mo, 9 y 7 mo respectively), their breed (all Cheviots) and their similar PRNP genotypes (AFRQ/AFRQ, AFRQ/ALRQ, and AFRQ/AFRQ, respectively). Two of the three sheep showed no clinical signs prior to death but all were confirmed as having atypical scrapie by immunohistochemistry and Western immunoblotting. Results of epidemiological investigations are presented and possible aetiologies of the cases are discussed. Conclusion By process of exclusion, a likely explanation for the three cases of atypical scrapie is that they arose spontaneously and were not infected from an exterior source. If correct, this raises challenging issues for countries which are currently regarded as free from scrapie. It would mean that atypical scrapie is liable to occur in flocks worldwide, especially in older sheep of susceptible genotypes. To state confidently that both the classical and atypical forms of scrapie are absent from a population it is necessary for active surveillance to have taken place. PMID:19208228

Variations of stereotypies in individuals with Rett syndrome: A nationwide cross-sectional study in Taiwan.

PubMed

Chin Wong, Lee; Hung, Pi-Lien; Jan, Tz-Yun; Lee, Wang-Tso

2017-07-01

Individuals with Rett syndrome (RTT) can have variable manifestations of stereotypies. In this nation-wide cross-sectional study, we recruited all individuals with RTT in Taiwan diagnosed as RTT by neurologists based on genetic findings and diagnostic criteria. The data were collected using questionnaire. A total 43 cases of typical RTT and 15 cases of atypical RTT, aged from 2.1 to 40.1 years, were enrolled. They included 3 (5.2%) in stage II, 42 (72.4%) in stage III, and 13 (22.4%) in stage IV. All individuals presented with at least one stereotypy. Individuals with atypical RTT had more varied stereotypies (mean: 14 ± 6) compared to those with typical RTT (mean: 9 ± 5) (P = 0.003). Flapping (73.3%) and wringing (58.1%) were the most common hand stereotypies in atypical and typical RTT, respectively. Compared with typical RTT, hair pulling, bruxism, retropulsion, and protrusion of lips were more common in atypical RTT (P = 0.003, P = 0.006, P = 0.003 and <0.001, respectively). The number of stereotypies did not differ among different stages, clinical severities, and hand functions. Although there were no age-related changes in stereotypies in atypical RTT, flapping (P = 0.012), clapping (P = 0.044), and mouthing with single hand (P = 0.009) were significantly more prevalent in individuals aged <10 years with typical RTT, and they decreased after 10 years. In conclusion, our study showed that the stereotypical movements varied in typical and atypical RTT, implying the heterogeneous nature of the disease and the pathogenic mechanisms of RTT with atypical features. Autism Res 2017. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 1204-1214. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

Detection of respiratory bacterial pathogens causing atypical pneumonia by multiplex Lightmix® RT-PCR.

PubMed

Wagner, Karoline; Springer, Burkard; Imkamp, Frank; Opota, Onya; Greub, Gilbert; Keller, Peter M

2018-04-01

Pneumonia is a severe infectious disease. In addition to common viruses and bacterial pathogens (e.g. Streptococcus pneumoniae), fastidious respiratory pathogens like Chlamydia pneumoniae, Mycoplasma pneumoniae and Legionella spp. can cause severe atypical pneumonia. They do not respond to penicillin derivatives, which may cause failure of antibiotic empirical therapy. The same applies for infections with B. pertussis and B. parapertussis, the cause of pertussis disease, that may present atypically and need to be treated with macrolides. Moreover, these fastidious bacteria are difficult to identify by culture or serology, and therefore often remain undetected. Thus, rapid and accurate identification of bacterial pathogens causing atypical pneumonia is crucial. We performed a retrospective method evaluation study to evaluate the diagnostic performance of the new, commercially available Lightmix ® multiplex RT-PCR assay that detects these fastidious bacterial pathogens causing atypical pneumonia. In this retrospective study, 368 clinical respiratory specimens, obtained from patients suffering from atypical pneumonia that have been tested negative for the presence of common agents of pneumonia by culture and viral PCR, were investigated. These clinical specimens have been previously characterized by singleplex RT-PCR assays in our diagnostic laboratory and were used to evaluate the diagnostic performance of the respiratory multiplex Lightmix ® RT-PCR. The multiplex RT-PCR displayed a limit of detection between 5 and 10 DNA copies for different in-panel organisms and showed identical performance characteristics with respect to specificity and sensitivity as in-house singleplex RT-PCRs for pathogen detection. The Lightmix ® multiplex RT-PCR assay represents a low-cost, time-saving and accurate diagnostic tool with high throughput potential. The time-to-result using an automated DNA extraction device for respiratory specimens followed by multiplex RT-PCR detection was below 4 h, which is expected to significantly improve diagnostics for atypical pneumonia-associated bacterial pathogens. Copyright © 2018 The Authors. Published by Elsevier GmbH.. All rights reserved.

Evidence for Broadening Criteria for Atypical Depression Which May Define a Reactive Depressive Disorder.

PubMed

Silverstein, Brett; Angst, Jules

2015-01-01

Objective. Arguing that additional symptoms should be added to the criteria for atypical depression. Method. Published research articles on atypical depression are reviewed. Results. (1) The original studies upon which the criteria for atypical depression were based cited fatigue, insomnia, pain, and loss of weight as characteristic symptoms. (2) Several studies of DSM depressive criteria found patients with atypical depression to exhibit high levels of insomnia, fatigue, and loss of appetite/weight. (3) Several studies have found atypical depression to be comorbid with headaches, bulimia, and body image issues. (4) Most probands who report atypical depression meet criteria for "somatic depression," defined as depression associated with several of disordered eating, poor body image, headaches, fatigue, and insomnia. The gender difference in prevalence of atypical depression results from its overlap with somatic depression. Somatic depression is associated with psychosocial measures related to gender, linking it with the descriptions of atypical depression as "reactive" appearing in the studies upon which the original criteria for atypical depression were based. Conclusion. Insomnia, disordered eating, poor body image, and aches/pains should be added as criteria for atypical depression matching criteria for somatic depression defining a reactive depressive disorder possibly distinct from endogenous melancholic depression.

On Correlational Properties for Volcanic Earthquakes Associated with Asamayama (Japan), 1983-2005

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

Reyment, Richard A.

To a first approximation, earthquakes directly associated with volcanic activity may be studied as point-stochastic processes. The earthquakes associated with B-type (movements located at 1 km or shallower) eruptive activity in the caldera of Asamayama differ in correlational properties from concurrent deep-seated seismic activity (A-type, located deeper than approximately 1 km). A-type activity occurs either in the form of independently distributed intervals between events or as dependently distributed intervals which are most appropriately analysed in contiguous sub-samples ('windows'). The cross correlations between the magnitudes of A-type earthquakes and depth of events for three periods from 1983 to 2005 may bemore » of significance for interpreting aspects of the volcanic history of Asamayama. The lag-1 serial correlation coefficient for the A-type sequence from 1983 to 1990 is not significantly different from zero. In the case of the sets for 1991-2002 and 2003-2005, the coefficients are small but not zero. The difference is in part, at least, probably due to the well-known confounding effect of trending as opposed to true serial correlation between successive events. The serial correlation coefficient for the B-type crater sequence is not significant. The novel aspect of the present study concerns the relationship between depth of A-type earth movements and magnitude of associated shocks.« less

Carbonate substitution in the mineral component of bone: Discriminating the structural changes, simultaneously imposed by carbonate in A and B sites of apatite

NASA Astrophysics Data System (ADS)

Madupalli, Honey; Pavan, Barbara; Tecklenburg, Mary M. J.

2017-11-01

The mineral component of bone and other biological calcifications is primarily a carbonate substituted calcium apatite. Integration of carbonate into two sites, substitution for phosphate (B-type carbonate) and substitution for hydroxide (A-type carbonate), influences the crystal properties which relate to the functional properties of bone. In the present work, a series of AB-type carbonated apatites (AB-CAp) having varying A-type and B-type carbonate weight fractions were prepared and analyzed by Fourier transform infrared spectroscopy (FTIR), powder X-ray diffraction (XRD), and carbonate analysis. A detailed characterization of A-site and B-site carbonate assignment in the FTIR ν3 region is proposed. The mass fractions of carbonate in A-site and B-site of AB-CAp correlate differently with crystal axis length and crystallite domain size. In this series of samples reduction in crystal domain size correlates only with A-type carbonate which indicates that carbonate in the A-site is more disruptive to the apatite structure than carbonate in the B-site. High temperature methods were required to produce significant A-type carbonation of apatite, indicating a higher energy barrier for the formation of A-type carbonate than for B-type carbonate. This is consistent with the dominance of B-type carbonate substitution in low temperature synthetic and biological apatites.

Regulation of mouse brain glycogen synthase kinase-3 by atypical antipsychotics.

PubMed

Li, Xiaohua; Rosborough, Kelley M; Friedman, Ari B; Zhu, Wawa; Roth, Kevin A

2007-02-01

Glycogen synthase kinase-3 (GSK3) has been recognized as an important enzyme that modulates many aspects of neuronal function. Accumulating evidence implicates abnormal activity of GSK3 in mood disorders and schizophrenia, and GSK3 is a potential protein kinase target for psychotropics used in these disorders. We previously reported that serotonin, a major neurotransmitter involved in mood disorders, regulates GSK3 by acutely increasing its N-terminal serine phosphorylation. The present study was undertaken to further determine if atypical antipsychotics, which have therapeutic effects in both mood disorders and schizophrenia, can regulate phospho-Ser-GSK3 and inhibit its activity. The results showed that acute treatment of mice with risperidone rapidly increased the level of brain phospho-Ser-GSK3 in the cortex, hippocampus, striatum, and cerebellum in a dose-dependent manner. Regulation of phospho-Ser-GSK3 was a shared effect among several atypical antipsychotics, including olanzapine, clozapine, quetiapine, and ziprasidone. In addition, combination treatment of mice with risperidone and a monoamine reuptake inhibitor antidepressant imipramine or fluoxetine elicited larger increases in brain phospho-Ser-GSK3 than each agent alone. Taken together, these results provide new information suggesting that atypical antipsychotics, in addition to mood stabilizers and antidepressants, can inhibit the activity of GSK3. These findings may support the pharmacological mechanisms of atypical antipsychotics in the treatment of mood disorders.

Do Pattern-Focused Visuals Improve Skin Self-Examination Performance? Explicating the Visual Skill Acquisition Model

PubMed Central

JOHN, KEVIN K.; JENSEN, JAKOB D.; KING, ANDY J.; RATCLIFF, CHELSEA L.; GROSSMAN, DOUGLAS

2017-01-01

Skin self-examination (SSE) consists of routinely checking the body for atypical moles that might be cancerous. Identifying atypical moles is a visual task; thus, SSE training materials utilize pattern-focused visuals to cultivate this skill. Despite widespread use, researchers have yet to explicate how pattern-focused visuals cultivate visual skill. Using eye tracking to capture the visual scanpaths of a sample of laypersons (N = 92), the current study employed a 2 (pattern: ABCDE vs. ugly duckling sign [UDS]) × 2 (presentation: photorealistic images vs. illustrations) factorial design to assess whether and how pattern-focused visuals can increase layperson accuracy in identifying atypical moles. Overall, illustrations resulted in greater sensitivity, while photos resulted in greater specificity. The UDS × photorealistic condition showed greatest specificity. For those in the photo condition with high self-efficacy, UDS increased specificity directly. For those in the photo condition with self-efficacy levels at the mean or lower, there was a conditional indirect effect such that these individuals spent a larger amount of their viewing time observing the atypical moles, and time on target was positively related to specificity. Illustrations provided significant gains in specificity for those with low-to-moderate self-efficacy by increasing total fixation time on the atypical moles. Findings suggest that maximizing visual processing efficiency could enhance existing SSE training techniques. PMID:28759333

Adjunctive α-lipoic acid reduces weight gain compared with placebo at 12 weeks in schizophrenic patients treated with atypical antipsychotics: a double-blind randomized placebo-controlled study.

PubMed

Kim, Nam Wook; Song, Yul-Mai; Kim, Eosu; Cho, Hyun-Sang; Cheon, Keun-Ah; Kim, Su Jin; Park, Jin Young

2016-09-01

α-Lipoic acid (ALA) has been reported to be effective in reducing body weight in rodents and obese patients. Our previous open trial showed that ALA may play a role in reducing weight gain in patients with schizophrenia on atypical antipsychotics. The present study evaluated the efficacy of ALA in reducing weight and BMI in patients with schizophrenia who had experienced significant weight gain since taking atypical antipsychotics. In a 12-week, double-blind randomized placebo-controlled study, 22 overweight and clinically stable patients with schizophrenia were randomly assigned to receive ALA or placebo. ALA was administered at 600-1800 mg, as tolerated. Weight, BMI, abdomen fat area measured by computed tomography, and metabolic values were determined. Adverse effects were also assessed to examine safety. Overall, 15 patients completed 12 weeks of treatment. There was significant weight loss and decreased visceral fat levels in the ALA group compared with the placebo group. There were no instances of psychopathologic aggravation or severe ALA-associated adverse effects. ALA was effective in reducing weight and abdominal obesity in patients with schizophrenia who had experienced significant weight gain since beginning an atypical antipsychotic regimen. Moreover, ALA was well tolerated throughout this study. ALA might play an important role as an adjunctive treatment in decreasing obesity in patients who take atypical antipsychotics.

Learning about the internal structure of categories through classification and feature inference.

PubMed

Jee, Benjamin D; Wiley, Jennifer

2014-01-01

Previous research on category learning has found that classification tasks produce representations that are skewed toward diagnostic feature dimensions, whereas feature inference tasks lead to richer representations of within-category structure. Yet, prior studies often measure category knowledge through tasks that involve identifying only the typical features of a category. This neglects an important aspect of a category's internal structure: how typical and atypical features are distributed within a category. The present experiments tested the hypothesis that inference learning results in richer knowledge of internal category structure than classification learning. We introduced several new measures to probe learners' representations of within-category structure. Experiment 1 found that participants in the inference condition learned and used a wider range of feature dimensions than classification learners. Classification learners, however, were more sensitive to the presence of atypical features within categories. Experiment 2 provided converging evidence that classification learners were more likely to incorporate atypical features into their representations. Inference learners were less likely to encode atypical category features, even in a "partial inference" condition that focused learners' attention on the feature dimensions relevant to classification. Overall, these results are contrary to the hypothesis that inference learning produces superior knowledge of within-category structure. Although inference learning promoted representations that included a broad range of category-typical features, classification learning promoted greater sensitivity to the distribution of typical and atypical features within categories.

Atypical Microglial Response to Biodiesel Exhaust in Healthy and Hypertensive Rats

EPA Science Inventory

Accumulating evidence suggests a deleterious role for urban air pollution in central nervous system (CNS) diseases and neurodevelopmental disorders. Microglia, the resident innate immune cells and sentinels in the brain, are a common source of neuroinflammation and are implicate...

Spontaneous temporal encephaloceles masked by dual pathology: report of two cases.

PubMed

Paleri, V; Watson, C

2001-05-01

Spontaneous temporal meningoencephaloceles are rare entities and diagnostic difficulties can occur. We present two cases whose presentation was atypical and diagnosis delayed by the presence of dual pathology.

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency

PubMed Central

Volk, Timo; Pannicke, Ulrich; Reisli, Ismail; Bulashevska, Alla; Ritter, Julia; Björkman, Andrea; Schäffer, Alejandro A.; Fliegauf, Manfred; Sayar, Esra H.; Salzer, Ulrich; Fisch, Paul; Pfeifer, Dietmar; Di Virgilio, Michela; Cao, Hongzhi; Yang, Fang; Zimmermann, Karin; Keles, Sevgi; Caliskaner, Zafer; Güner, S¸ükrü; Schindler, Detlev; Hammarström, Lennart; Rizzi, Marta; Hummel, Michael; Pan-Hammarström, Qiang; Schwarz, Klaus; Grimbacher, Bodo

2015-01-01

Null mutations in genes involved in V(D)J recombination cause a block in B- and T-cell development, clinically presenting as severe combined immunodeficiency (SCID). Hypomorphic mutations in the non-homologous end-joining gene DCLRE1C (encoding ARTEMIS) have been described to cause atypical SCID, Omenn syndrome, Hyper IgM syndrome and inflammatory bowel disease—all with severely impaired T-cell immunity. By whole-exome sequencing, we investigated the molecular defect in a consanguineous family with three children clinically diagnosed with antibody deficiency. We identified perfectly segregating homozygous variants in DCLRE1C in three index patients with recurrent respiratory tract infections, very low B-cell numbers and serum IgA levels. In patients, decreased colony survival after irradiation, impaired proliferative response and reduced counts of naïve T cells were observed in addition to a restricted T-cell receptor repertoire, increased palindromic nucleotides in the complementarity determining regions 3 and long stretches of microhomology at switch junctions. Defective V(D)J recombination was complemented by wild-type ARTEMIS protein in vitro. Subsequently, homozygous or compound heterozygous DCLRE1C mutations were identified in nine patients from the same geographic region. We demonstrate that DCLRE1C mutations can cause a phenotype presenting as only antibody deficiency. This novel association broadens the clinical spectrum associated with ARTEMIS mutations. Clinicians should consider the possibility that an immunodeficiency with a clinically mild initial presentation could be a combined immunodeficiency, so as to provide appropriate care for affected patients. PMID:26476407

Evidence for Atypical Auditory Brainstem Responses in Young Children with Suspected Autism Spectrum Disorders

ERIC Educational Resources Information Center

Roth, Daphne Ari-Even; Muchnik, Chava; Shabtai, Esther; Hildesheimer, Minka; Henkin, Yael

2012-01-01

Aim: The aim of this study was to characterize the auditory brainstem responses (ABRs) of young children with suspected autism spectrum disorders (ASDs) and compare them with the ABRs of children with language delay and with clinical norms. Method: The ABRs of 26 children with suspected ASDs (21 males, five females; mean age 32.5 mo) and an age-…

The Relationship between Early Neural Responses to Emotional Faces at Age 3 and Later Autism and Anxiety Symptoms in Adolescents with Autism

ERIC Educational Resources Information Center

Neuhaus, Emily; Jones, Emily J. H.; Barnes, Karen; Sterling, Lindsey; Estes, Annette; Munson, Jeff; Dawson, Geraldine; Webb, Sara J.

2016-01-01

Both autism spectrum (ASD) and anxiety disorders are associated with atypical neural and attentional responses to emotional faces, differing in affective face processing from typically developing peers. Within a longitudinal study of children with ASD (23 male, 3 female), we hypothesized that early ERPs to emotional faces would predict concurrent…

Inflammatory protein response in CDKL5-Rett syndrome: evidence of a subclinical smouldering inflammation.

PubMed

Cortelazzo, Alessio; de Felice, Claudio; Leoncini, Silvia; Signorini, Cinzia; Guerranti, Roberto; Leoncini, Roberto; Armini, Alessandro; Bini, Luca; Ciccoli, Lucia; Hayek, Joussef

2017-03-01

Mutations in the cyclin-dependent kinase-like 5 gene cause a clinical variant of Rett syndrome (CDKL5-RTT). A role for the acute-phase response (APR) is emerging in typical RTT caused by methyl-CpG-binding protein 2 gene mutations (MECP2-RTT). No information is, to date, available on the inflammatory protein response in CDKL5-RTT. We evaluated, for the first time, the APR protein response in CDKL5-RTT. Protein patterns in albumin- and IgG-depleted plasma proteome from CDKL5-RTT patients were evaluated by two-dimensional gel electrophoresis/mass spectrometry. The resulting data were related to circulating cytokines and compared to healthy controls or MECP2-RTT patients. The effects of omega-3 polyunsaturated fatty acids (ω-3 PUFAs) were evaluated. CDKL5-RTT mutations resulted in a subclinical attenuated inflammation, specifically characterized by an overexpression of the complement component C3 and CD5 antigen-like, both strictly related to the inflammatory response. Cytokine dysregulation featuring a bulk increase of anti-inflammatory cytokines, predominantly IL-10, could explain the unchanged erythrocyte sedimentation rate and atypical features of inflammation in CDKL5-RTT. Omega-3 PUFAs were able to counterbalance the pro-inflammatory status. For the first time, we revealed a subclinical smouldering inflammation pattern in CDKL5-RTT consisting in the coexistence of an atypical APR coupled with a dysregulated cytokine response.

MESAS: Measuring the Emission of Stellar Atmospheres at Submillimeter/millimeter Wavelengths

NASA Astrophysics Data System (ADS)

White, Jacob Aaron; Aufdenberg, Jason; Boley, A. C.; Hauschildt, Peter; Hughes, Meredith; Matthews, Brenda; Wilner, David

2018-06-01

In the early stages of planet formation, small dust grains grow to become millimeter-sized particles in debris disks around stars. These disks can in principle be characterized by their emission at submillimeter and millimeter wavelengths. Determining both the occurrence and abundance of debris in unresolved circumstellar disks of A-type main-sequence stars requires that the stellar photospheric emission be accurately modeled. To better constrain the photospheric emission for such systems, we present observations of Sirius A, an A-type star with no known debris, from the James Clerk Maxwell Telescope, Submillimeter Array, and Jansky Very Large Array at 0.45, 0.85, 0.88, 1.3, 6.7, and 9.0 mm. We use these observations to inform a PHOENIX model of Sirius A’s atmosphere. We find the model provides a good match to these data and can be used as a template for the submillimeter/millimeter emission of other early A-type stars where unresolved debris may be present. The observations are part of an ongoing observational campaign entitled Measuring the Emission of Stellar Atmospheres at Submillimeter/millimeter wavelengths.

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

PubMed Central

Ferrero, Giovanni Battista; Howald, Cédric; Micale, Lucia; Biamino, Elisa; Augello, Bartolomeo; Fusco, Carmela; Turturo, Maria Giuseppina; Forzano, Serena; Reymond, Alexandre; Merla, Giuseppe

2010-01-01

Williams–Beuren syndrome (WBS; OMIM no. 194050) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion of 1.55 Mb on chromosome 7q11.23 spanning 28 genes. Haploinsufficiency of the ELN gene was shown to be responsible for supravalvular aortic stenosis and generalized arteriopathy, whereas LIMK1, CLIP2, GTF2IRD1 and GTF2I genes were suggested to be linked to the specific cognitive profile and craniofacial features. These insights for genotype–phenotype correlations came from the molecular and clinical analysis of patients with atypical deletions and mice models. Here we report a patient showing mild WBS physical phenotype and normal IQ, who carries a shorter 1 Mb atypical deletion. This rearrangement does not include the GTF2IRD1 and GTF2I genes and only partially the BAZ1B gene. Our results are consistent with the hypothesis that hemizygosity of the GTF2IRD1 and GTF2I genes might be involved in the facial dysmorphisms and in the specific motor and cognitive deficits observed in WBS patients. PMID:19568270

Goiter and deaf mutism.

PubMed Central

Thieme, E T

1975-01-01

The occurrence of deaf-mutism and goiter unassocaited with creatinism or mental retardation in euthyroid patients is known as Pendred's Syndrome. It is considered due to a single mutant recessive gene responsible for both the goiter and deafness. The penetrance is high, the intenseness of expressivity may vary within the same family and only one generation is affected. The extremely atypical hyperplasia seen in such goiters has been considered malignant. In 1956 the author reported a family in which 4 of 6 sibilings demonstrated Pendred's Syndrome. Three of the 4 had undergone thyroidectomy, two were considered to have carcinoma. Nineteen years later the family is again reported. The fourth sibling has recently undergone thyroidectomy. This thyroid demonstrated the same atypical hyperplasia as seen in the elder two siblings. The 19 year followup of this family has shown no evidence of recurrence or metastases, indicating that the atypical hyperplasia is probably not malignant. Pendred's Syndrome is described and certain suggestions are made for the counseling of the parents and the treatment and counseling of those children so afflicted. Images Fig. 1. Fig. 2. Fig. 3. Fig. 4. Fig. 5. PMID:1211996

Atypical familial Mediterranean fever developed in a long-term hemodialysis patient.

PubMed

Makino, Toshiyuki; Ohara, Yoshitatsu; Kobayashi, Namiko; Kono, Yohei; Nomizu, Ayumu; Ichijo, Mariko; Mori, Yutaro; Matsui, Noriaki; Kishida, Dai; Toda, Takayuki

2018-04-01

Familial Mediterranean Fever (FMF) is usually an autosomal recessive autoinflammatory disease characterized by recurrent attacks of fever and serositis. FMF develops before the age of 20 years in 90% of patients. It has intervals of 1 week to several years between attacks, which leads to renal dysfunction-amyloidosis. We report a case of atypical FMF that developed in a long-term hemodialysis patient. A 65-year-old Japanese female undergoing hemodialysis for 32 years was referred to our hospital with a fever of unknown origin (FUO) following cervical laminoplasty. The fever occurred as recurrent attacks accompanied by oligoarthralgia of the left hip and knee. We suspected FMF because of recurrent self-limited febrile attacks, although the patient showed atypical clinical features such as late-onset and highly frequent attacks. After receiving treatment, she achieved a complete response to colchicine. Therefore, a diagnosis of FMF was made based on the Tel-Hashomer criteria, which was confirmed by genetic testing. The case suggests that FMF may be of note in long-term hemodialysis patients developing FUO. © 2017 International Society for Hemodialysis.

Extrapyramidal side effects of antipsychotic treatment: scope of problem and impact on outcome.

PubMed

Tandon, Rajiv; Jibson, Michael D

2002-06-01

Previously, clinicians worked with antipsychotic drugs (conventional or typical) that almost invariably caused extrapyramidal symptoms (EPS) at clinically effective doses. This led to the false impression that all antipsychotics were the same, and that EPS were an unavoidable consequence of effective antipsychotic therapy. EPS adversely impact several aspects of antipsychotic efficacy and tolerability, thereby worsening outcome of afflicted individuals. EPS reduce beneficial effects of antipsychotic treatment on the negative, cognitive, and mood symptom domains, while increasing the risk of tardive dyskinesia and reducing compliance. By definition, the newer generation of "atypical" antipsychotic agents are significantly better than conventional agents with regard to EPS (i.e., they are clinically effective at doses at which they do not cause EPS). Pharmacologically, this difference is expressed in the greater degree of separation between respective dose response curves for antipsychotic and EPS effects observed for "atypical" in contrast to conventional agents. Clinically, this EPS advantage of atypical antipsychotics translates into several important benefits, including better negative symptom efficacy, less dysphoria, less impaired cognition, a lower risk of TD, and better overall outcome.

A star in the eye: cat scratch neuroretinitis.

PubMed

Gajula, Viswanath; Kamepalli, Ravi; Kalavakunta, Jagadeesh K

2014-02-01

Neuroretinitis is one of the atypical presentations of Cat scratch disease (CSD). Fundoscopy showed star pattern macular exudates. CSD should be considered in patients who present with blurry vision and typical fundoscopic findings.

Precursors to language development in typically and atypically developing infants and toddlers: the importance of embracing complexity.

PubMed

D'Souza, Dean; D'Souza, Hana; Karmiloff-Smith, Annette

2017-05-01

In order to understand how language abilities emerge in typically and atypically developing infants and toddlers, it is important to embrace complexity in development. In this paper, we describe evidence that early language development is an experience-dependent process, shaped by diverse, interconnected, interdependent developmental mechanisms, processes, and abilities (e.g. statistical learning, sampling, functional specialization, visual attention, social interaction, motor ability). We also present evidence from our studies on neurodevelopmental disorders (e.g. Down syndrome, fragile X syndrome, Williams syndrome) that variations in these factors significantly contribute to language delay. Finally, we discuss how embracing complexity, which involves integrating data from different domains and levels of description across developmental time, may lead to a better understanding of language development and, critically, lead to more effective interventions for cases when language develops atypically.

A review of processable high temperature resistant addition-type laminating resins

NASA Technical Reports Server (NTRS)

Serafini, T. T.; Delvigs, P.

1973-01-01

An important finding that resulted from research that was conducted to develop improved ablative resins was the discovery of a novel approach to synthesize processable high temperature resistant polymers. Low molecular weight polyimide prepolymers end-capped with norbornene groups were polymerized into thermo-oxidatively stable modified polyimides without the evolution of void producing volatile materials. This paper reviews basic studies that were performed using model compounds to elucidate the polymerization mechanism of the so-called addition-type polyimides. The fabrication and properties of polyimide/graphite fiber composites using A-type polyimide prepolymer as the matrix are described. An alternate method for preparing processable A-type polyimides by means of in situ polymerization of monomeric reactants on the fiber reinforcement is also described. Polyimide/graphite fiber composite performance at elevated temperatures is presented for A-type polyimides.

Posterior cortical atrophy variant of Alzheimer's dementia-A case report.

PubMed

Mukku, Shiva Shanker Reddy; Chintala, Haripriya; Nagaraj, Chandana; Mangalore, Sandhya; Sivakumar, Palanimuthu T; Varghese, Mathew

2018-05-17

Alzheimer's dementia (AD) is the commonest type of dementia presenting with initial episodic memory decline followed by involvement of other cognitive domains. Posterior cortical atrophy (PCA) is one of the variants of Alzheimer's dementia (AD) characterized by the atypical presentation of relatively persevered memory in the initial stage. PCA is an uncommon early onset dementia affecting adults between 50 and 65 years. It presents predominantly with visuo-spatial and visuo-perceptual deficits. PCA is a phenotype with varied etiology most common being Alzheimer's disease. The complex and atypical presentation with preserved memory and insight in patients with PCA poses challenge to clinicians in diagnosing at initial stages. There is also paucity of research on prevalence, course, prognosis and management of PCA. In this article we describe a middle aged gentlemen presenting with clinical features suggestive of PCA. We also discussed relevant literature. Copyright © 2018 Elsevier B.V. All rights reserved.

Subacute sclerosing panencephalitis presenting as schizophrenia with an alpha coma pattern in a child.

PubMed

Kartal, Ayşe; Kurt, Ayşegül Neşe Çitak; Gürkaş, Esra; Aydin, Kurşad; Serdaroğlu, Ayşe

2014-10-01

Subacute sclerosing panencephalitis, a progressive neurodegenerative disorder of the central nervous system, can present atypically with uncharacteristic electroencephalographic (EEG) features at its onset albeit typically with progressive mental deterioration, behavioral changes, and myoclonic jerks. An atypical presentation of subacute sclerosing panencephalitis can lead to a delay in diagnosis, thus hindering early treatment. Herein, we describe a 14-year-old girl who presented with insomnia, amnesia, auditory and visual hallucinations. The patient's electroencephalography on admission showed an alpha coma pattern. In spite of antipsychiatric treatment (olanzapine 20 mg/d) for 3 months, a progressive deterioration in neurologic function was observed. Subacute sclerosing panencephalitis was suspected and diagnosis was confirmed by increased titers of measles antibodies in the cerebrospinal fluid. The attention of pediatricians should be drawn to psychiatric symptoms as possible initial presentations of subacute sclerosing panencephalitis in order to avoid needless diagnostic and treatment procedures. © The Author(s) 2013.

Dermoscopic features of thin melanomas: a comparative study of melanoma in situ and invasive melanomas smaller than or equal to 1mm*

PubMed Central

da Silva, Vanessa Priscilla Martins; Ikino, Juliana Kida; Sens, Mariana Mazzochi; Nunes, Daniel Holthausen; Di Giunta, Gabriella

2013-01-01

BACKGROUND Dermoscopy allows the early detection of melanomas. The preoperative determination of Breslow index by dermoscopy could be useful in planning the surgical approach and in selecting patients for sentinel lymph node biopsy. OBJECTIVES This study aims at describing the dermoscopic features of thin melanomas and comparing melanomas in situ with invasive melanomas less than or equal to 1 mm thick. METHODS This was an observational retrospective study in which the dermoscopy photographs of 41 thin melanomas were evaluated. Three observers evaluated together 14 dermoscopic criteria. RESULTS Among thin melanomas, the most frequent criteria were presence of asymmetry in two axes in 95% of cases (39 cases), 3 or more colors in 80.4% of cases (33 cases), atypical dots or globules in 58.5% of cases (24 cases) and atypical network or streaks in 53.6% of cases (22 cases). The group of invasive melanomas presented with a higher frequency and statistical significance (p <0.05) 3 or more colors (OR: 16.1), milky red areas (OR: 4.8) and blue-white veil (OR: 20.4), and a greater tendency to have streaks or atypical network (OR: 3.66). CONCLUSIONS Thin melanomas tend to have asymmetry in the two axes, 3 or more colors, atypical dots or globules and atypical network or streaks. Melanomas in situ tend to have up to 2 colors, no blue-white veil and no milky red area. Invasive melanomas tend to have 3 or more colors, a milky red area, blue-white veil, and atypical network or streaks. Further studies are needed to confirm these findings. PMID:24173175

Flat epithelial atypia and atypical ductal hyperplasia: carcinoma underestimation rate.

PubMed

Ingegnoli, Anna; d'Aloia, Cecilia; Frattaruolo, Antonia; Pallavera, Lara; Martella, Eugenia; Crisi, Girolamo; Zompatori, Maurizio

2010-01-01

This study was carried out to determine the underestimation rate of carcinoma upon surgical biopsy after a diagnosis of flat epithelial atypia and atypical ductal hyperplasia and 11-gauge vacuum-assisted breast biopsy. A retrospective review was conducted of 476 vacuum-assisted breast biopsy performed from May 2005 to January 2007 and a total of 70 cases of atypia were identified. Fifty cases (71%) were categorized as pure atypical ductal hyperplasia, 18 (26%) as pure flat epithelial atypia and two (3%) as concomitant flat epithelial atypia and atypical ductal hyperplasia. Each group were compared with the subsequent open surgical specimens. Surgical biopsy was performed in 44 patients with atypical ductal hyperplasia, 15 patients with flat epithelial atypia, and two patients with flat epithelial atypia and atypical ductal hyperplasia. Five cases of atypical ductal hyperplasia were upgraded to ductal carcinoma in situ, three cases of flat epithelial atypia yielded one ductal carcinoma in situ and two cases of invasive ductal carcinoma, and one case of flat epithelial atypia/atypical ductal hyperplasia had invasive ductal carcinoma. The overall rate of malignancy was 16% for atypical ductal hyperplasia (including flat epithelial atypia/atypical ductal hyperplasia patients) and 20% for flat epithelial atypia. The presence of flat epithelial atypia and atypical ductal hyperplasia at biopsy requires careful consideration, and surgical excision should be suggested.

A depressed post-menopausal woman.

PubMed

Lutwak, Nancy; Dill, Curt

2012-11-01

Post-menopausal women are at significant risk for coronary artery disease, have increased rates of depression compared to their male counterparts, and often present atypically with coronary insufficiency. The symptoms of depression and coronary ischemia overlap greatly. Complaints like fatigue, body aches, and sleep disturbance reported by a depressed elderly woman may be cardiac related and need to be investigated seriously without physician bias. To ensure that clinicians are cautious when evaluating older women with a history of depression who are presenting with atypical complaints. A 61-year-old woman with history of depression presented to the Emergency Department with multiple complaints atypical for acute coronary syndrome. She had an immediate electrocardiogram and troponin-T Biosite point-of-care test (Biosite Incorporated, San Diego, CA) performed, which were positive for cardiac ischemia and myocardial infarction. The patient underwent immediate cardiac catheterization, which revealed occlusion of the mid left circumflex. After aspiration of thrombus and balloon dilatation of the site, a bare metal stent was deployed, restoring excellent flow. The patient did well medically but her depression worsened after the procedure and continues despite psychiatric intervention. For years there have been gender differences in medical treatment of coronary artery disease, and often women's complaints are not investigated aggressively. Post-menopausal women are at great risk for cardiac ischemia and depression, and their symptoms, which are often atypical, may not be diagnosed as anginal equivalents. In addition, depression is an independent risk factor for cardiovascular disease and, if it occurs after myocardial infarction, may lead to poor quality of life and increased morbidity and mortality. Patients who have had a coronary event must be thoroughly evaluated for signs of depression and receive the necessary treatment. Published by Elsevier Inc.

"Brief" Aripiprazole-induced Neuroleptic Malignant Syndrome with Symptoms that Only Lasted a Few Hours.

PubMed

Mizumura, Naoto; Uematsu, Masato; Ito, Aya; Okumura, Satoshi; Maehira, Hiromitsu; Ogawa, Masao; Kawasaki, Masayasu

2017-11-15

Neuroleptic malignant syndrome (NMS) with characteristic symptoms is a potentially lethal reaction to antipsychotic drugs. Atypical NMS usually lacks major symptoms and frequently occurs after treatment using atypical antipsychotics, such as aripiprazole. A 64-year-old man developed aripiprazole-induced NMS after surgery, and our early recognition of the NMS was based on high creatine kinase levels and low serum iron levels. His characteristic symptoms (a fever, rigidity, and altered mental status) were only present for a few hours and were resolved by aripiprazole discontinuation and supportive care. Aripiprazole-induced NMS can present with brief but major symptoms, and clinicians may overlook this "brief" appearance of NMS.

Herpes Zoster Meningitis Presenting With a Cerebrospinal Fluid Leukemoid Reaction in an Adolescent With preB-ALL in Remission.

PubMed

Adachi, Kristina; Song, Sophie X; Kao, Roy L; Van Dyne, Elizabeth; Kempert, Pamela; Deville, Jaime G

2016-08-01

A 19-year-old girl with a history of precursor B acute lymphoblastic leukemia in remission presented with fever, headache, and a skin rash. Cerebrospinal fluid (CSF) examination reported pleocytosis with blast-like cells concerning for a central nervous system leukemic relapse. After the patient showed significant improvement on intravenous acyclovir, a repeat lumbar puncture revealed normalization of CSF. The abnormal CSF cells were reviewed and ultimately determined to be activated and atypical lymphocytes. The patient recovered uneventfully. Atypical lymphocytes resembling leukemic blasts are an unusual finding in viral meningitis. Varicella zoster virus reactivation should be considered during initial evaluation for central nervous system relapse of leukemia.

World wide web-based cytological analysis of atypical squamous cells cannot exclude high-grade intraepithelial lesions.

PubMed

Washiya, Kiyotada; Takamizu, Ryuichi; Kumagai, Yukie; Himeji, Yukari; Kobayashi, Takako; Iwai, Muneo; Watanabe, Jun

2012-01-01

It has been reported that the low level of consistency of diagnosis of atypical squamous cells cannot exclude high-grade squamous intraepithelial lesions (ASC-H) in uterine cervical cancer screening using the Bethesda System, indicating the necessity of a large-scale survey. We presented cases cytologically judged as ASC-H on our website and invited our members to give their opinions regarding the diagnosis by voting online. The Web voting results were analyzed and ASC-H was cytologically investigated. Virtual slides of atypical cells in cytology preparations of 53 cases were prepared and presented on a website. ASC-H cases were divided into 42 cases sampled by brush scraping and 11 cases sampled by cotton swab scraping. Fifty-three cases cytologically judged as ASC-H were classified into benign and CIN2/3, and their patterns of arrangement of atypical cells and 8 cytological parameters were morphologically investigated. The frequency of ASC-H diagnosis in the Web votes was low: 29.2% for brush-scraped and 26.2% for cotton swab-scraped cases. Three-dimensionality, coarse chromatin and irregular nuclei were significantly different between high-grade squamous intraepithelial lesions and benign cases. Web-based surveys showed the difference of cytological findings between high-grade squamous intraepithelial lesions and benign cases. To increase interobserver consistency, it may be useful to share information online, which avoids geographical and temporal limitations. Copyright © 2012 S. Karger AG, Basel.

Towards a new taxonomy of idiopathic orofacial pain.

PubMed

Woda, Alain; Tubert-Jeannin, Stéphanie; Bouhassira, Didier; Attal, Nadine; Fleiter, Bernard; Goulet, Jean-Paul; Gremeau-Richard, Christelle; Navez, Marie Louise; Picard, Pascale; Pionchon, Paul; Albuisson, Eliane

2005-08-01

There is no current consensus on the taxonomy of the different forms of idiopathic orofacial pain (stomatodynia, atypical odontalgia, atypical facial pain, facial arthromyalgia), which are sometimes considered as separate entities and sometimes grouped together. In the present prospective multicentric study, we used a systematic approach to help to place these different painful syndromes in the general classification of chronic facial pain. This multicenter study was carried out on 245 consecutive patients presenting with chronic facial pain (>4 months duration). Each patient was seen by two experts who proposed a diagnosis, administered a 111-item questionnaire and filled out a standardized 68-item examination form. Statistical processing included univariate analysis and several forms of multidimensional analysis. Migraines (n=37), tension-type headache (n=26), post-traumatic neuralgia (n=20) and trigeminal neuralgia (n=13) tended to cluster independently. When signs and symptoms describing topographic features were not included in the list of variables, the idiopathic orofacial pain patients tended to cluster in a single group. Inside this large cluster, only stomatodynia (n=42) emerged as a distinct homogenous subgroup. In contrast, facial arthromyalgia (n=46) and an entity formed with atypical facial pain (n=25) and atypical odontalgia (n=13) could only be individualised by variables reflecting topographical characteristics. These data provide grounds for an evidence-based classification of idiopathic facial pain entities and indicate that the current sub-classification of these syndromes relies primarily on the topography of the symptoms.

Early Cretaceous MORB-type basalt and A-type rhyolite in northern Tibet: Evidence for ridge subduction in the Bangong-Nujiang Tethyan Ocean

NASA Astrophysics Data System (ADS)

Fan, Jian-Jun; Li, Cai; Sun, Zhen-Ming; Xu, Wei; Wang, Ming; Xie, Chao-Ming

2018-04-01

New zircon U-Pb ages, major- and trace-element data, and Hf isotopic compositions are presented for bimodal volcanic rocks of the Zhaga Formation (ZF) in the western-middle segment of the Bangong-Nujiang suture zone (BNSZ), northern Tibet. The genesis of these rocks is described, and implications for late-stage evolution of the Bangong-Nujiang Tethyan Ocean (BNTO) are considered. Detailed studies show that the ZF bimodal rocks, which occur as layers within a typical bathyal to abyssal flysch deposit, comprise MORB-type basalt that formed at a mid-ocean ridge, and low-K calc-alkaline A-type rhyolite derived from juvenile crust. The combination of MORB-type basalt, calc-alkaline A-type rhyolite, and bathyal to abyssal flysch deposits in the ZF leads us to propose that they formed as a result of ridge subduction. The A-type ZF rhyolites yield LA-ICP-MS zircon U-Pb ages of 118-112 Ma, indicating formation during the Early Cretaceous. Data from the present study, combined with regional geological data, indicate that the BNTO underwent conversion from ocean opening to ocean closure during the Late Jurassic-Early Cretaceous. The eastern segment of the BNTO closed during this period, while the western and western-middle segments were still at least partially open and active during the Early Cretaceous, accompanied by ridge subduction within the Bangong-Nujiang Tethyan Ocean.

Reduced Perceptual Exclusivity during Object and Grating Rivalry in Autism

PubMed Central

Freyberg, J.; Robertson, C.E.; Baron-Cohen, S.

2015-01-01

Background The dynamics of binocular rivalry may be a behavioural footprint of excitatory and inhibitory neural transmission in visual cortex. Given the presence of atypical visual features in Autism Spectrum Conditions (ASC), and evidence in support of the idea of an imbalance in excitatory/inhibitory neural transmission in ASC, we hypothesized that binocular rivalry might prove a simple behavioural marker of such a transmission imbalance in the autistic brain. In support of this hypothesis, we previously reported a slower rate of rivalry in ASC, driven by reduced perceptual exclusivity. Methods We tested whether atypical dynamics of binocular rivalry in ASC are specific to certain stimulus features. 53 participants (26 with ASC, matched for age, sex and IQ) participated in binocular rivalry experiments in which the dynamics of rivalry were measured at two levels of stimulus complexity, low (grayscale gratings) and high (coloured objects). Results Individuals with ASC experienced a slower rate of rivalry, driven by longer transitional states between dominant percepts. These exaggerated transitional states were present at both low and high levels of stimulus complexity, suggesting that atypical rivalry dynamics in autism are robust with respect to stimulus choice. Interactions between stimulus properties and rivalry dynamics in autism indicate that achromatic grating stimuli produce stronger group differences. Conclusion These results confirm the finding of atypical dynamics of binocular rivalry in ASC. These dynamics were present for stimuli of both low and high levels of visual complexity, suggesting an imbalance in competitive interactions throughout the visual system of individuals with ASC. PMID:26382002

An ATP synthase harboring an atypical γ-subunit is involved in ATP synthesis in tomato fruit chromoplasts.

PubMed

Pateraki, Irini; Renato, Marta; Azcón-Bieto, Joaquín; Boronat, Albert

2013-04-01

Chromoplasts are non-photosynthetic plastids specialized in the synthesis and accumulation of carotenoids. During fruit ripening, chloroplasts differentiate into photosynthetically inactive chromoplasts in a process characterized by the degradation of the thylakoid membranes, and by the active synthesis and accumulation of carotenoids. This transition renders chromoplasts unable to photochemically synthesize ATP, and therefore these organelles need to obtain the ATP required for anabolic processes through alternative sources. It is widely accepted that the ATP used for biosynthetic processes in non-photosynthetic plastids is imported from the cytosol or is obtained through glycolysis. In this work, however, we show that isolated tomato (Solanum lycopersicum) fruit chromoplasts are able to synthesize ATP de novo through a respiratory pathway using NADPH as an electron donor. We also report the involvement of a plastidial ATP synthase harboring an atypical γ-subunit induced during ripening, which lacks the regulatory dithiol domain present in plant and algae chloroplast γ-subunits. Silencing of this atypical γ-subunit during fruit ripening impairs the capacity of isolated chromoplast to synthesize ATP de novo. We propose that the replacement of the γ-subunit present in tomato leaf and green fruit chloroplasts by the atypical γ-subunit lacking the dithiol domain during fruit ripening reflects evolutionary changes, which allow the operation of chromoplast ATP synthase under the particular physiological conditions found in this organelle. © 2013 The Authors The Plant Journal © 2013 Blackwell Publishing Ltd.

Hepatic and skin metastases after laparoscopic radical prostatectomy for prostate cancer.

PubMed

Coman, Ioan; Crişan, Nicolae; Petrut, Bogdan; Bungărdean, Cătălina; Cristea, Tudor; Crişan, Dana

2007-09-01

Between 2004 and 2006, 50 radical prostatectomies were performed in our department, 46 of them through a laparoscopic approach addressed to early stage cancer (T1a,b,c and T2a,b,c N0 M0). We present the case of a 63 year old patient, who was initially diagnosed with prostate cancer in T1bN0M0 stage, Gleason score 8 and later presented atypical hepatic and trocar site metastases. This particular evolution of the case can be explained by the high value of the Gleason score and by the extension into microvessels observed on the sample prelevated by prostatectomy. The rarity of this atypical metastases and its association, the diagnostic and therapy problems are the reasons for the detailed presentation of this case.

Sarcoid polyneuropathy masquerading as chronic inflammatory demyelinating polyneuropathy.

PubMed

Singhal, Neel S; Irodenko, Viktoriya S; Margeta, Marta; Layzer, Robert B

2015-10-01

Sarcoid polyneuropathy is a rare and clinically heterogeneous disorder that may be the initial presentation of sarcoidosis. We report the clinical, electrophysiological, and pathological findings of a patient who carried a diagnosis of sensory-predominant chronic inflammatory demyelinating polyneuropathy (CIDP) for over a decade but was ultimately found to have sarcoid polyneuropathy. A 36-year-old man presented with a several-week history of gait difficulty and muscle cramps. He had a diagnosis of CIDP but had not received lasting benefit from steroid-sparing immunosuppressive drugs. Electrodiagnostic studies were consistent with a chronic demyelinating polyradiculoneuropathy with conduction blocks. After he developed systemic symptoms, tissue biopsies revealed granulomatous disease. Symptoms improved with steroid therapy. Sarcoid polyneuropathy presents a diagnostic challenge, but, in patients with atypical neuropathy, characteristic systemic symptoms, or a poor response to standard treatment, nerve and muscle biopsies can help diagnose this treatable disorder. © 2015 Wiley Periodicals, Inc.

Reexpansion pulmonary edema in children

PubMed Central

Rodrigues, Antonio Lucas L.; Lopes, Carlos Eduardo; Romaneli, Mariana Tresoldi das N.; Fraga, Andrea de Melo A.; Pereira, Ricardo Mendes; Tresoldi, Antonia Teresinha

2013-01-01

OBJECTIVE To present a case of a patient with clinical and radiological features of reexpansion pulmonary edema, a rare and potentially fatal disease. CASE DESCRIPTION An 11-year-old boy presenting fever, clinical signs and radiological features of large pleural effusion initially treated as a parapneumonic process. Due to clinical deterioration he underwent tube thoracostomy, with evacuation of 3,000 mL of fluid; he shortly presented acute respiratory insufficiency and needed mechanical ventilation. He had an atypical evolution (extubated twice with no satisfactory response). Computerized tomography findings matched those of reexpansion edema. He recovered satisfactorily after intensive care, and pleural tuberculosis was diagnosed afterwards. COMMENTS Despite its rareness in the pediatric population (only five case reports gathered), the knowledge of this pathology and its prevention is very important, due to high mortality rates. It is recommended, among other measures, slow evacuation of the pleural effusion, not removing more than 1,500 mL of fluid at once. PMID:24142327

Structural analysis of a Petri net model of oxidative stress in atherosclerosis.

PubMed

Kozak, Adam; Formanowicz, Dorota; Formanowicz, Piotr

2018-06-01

Atherosclerosis is a complex process of gathering sub-endothelial plaques decreasing lumen of the blood vessels. This disorder affects people of all ages, but its progression is asymptomatic for many years. It is regulated by many typical and atypical factors including the immune system response, a chronic kidney disease, a diet rich in lipids, a local inflammatory process and a local oxidative stress that is here one of the key factors. In this study, a Petri net model of atherosclerosis regulation is presented. This model includes also some information about stoichiometric relationships between its components and covers all mentioned factors. For the model, a structural analysis based on invariants was made and biological conclusions are presented. Since the model contains inhibitor arcs, a heuristic method for analysis of such cases is presented. This method can be used to extend the concept of feasible t -invariants.

Esterification of 24S-OHC induces formation of atypical lipid droplet-like structures, leading to neuronal cell death[S

PubMed Central

Takabe, Wakako; Urano, Yasuomi; Vo, Diep-Khanh Ho; Shibuya, Kimiyuki; Tanno, Masaki; Kitagishi, Hiroaki; Fujimoto, Toyoshi; Noguchi, Noriko

2016-01-01

The 24(S)-hydroxycholesterol (24S-OHC), which plays an important role in maintaining brain cholesterol homeostasis, has been shown to possess neurotoxicity. We have previously reported that 24S-OHC esterification by ACAT1 and the resulting lipid droplet (LD) formation are responsible for 24S-OHC-induced cell death. In the present study, we investigate the functional roles of 24S-OHC esters and LD formation in 24S-OHC-induced cell death, and we identify four long-chain unsaturated fatty acids (oleic acid, linoleic acid, arachidonic acid, and DHA) with which 24S-OHC is esterified in human neuroblastoma SH-SY5Y cells treated with 24S-OHC. Here, we find that cotreatment of cells with 24S-OHC and each of these four unsaturated fatty acids increases prevalence of the corresponding 24S-OHC ester and exacerbates induction of cell death as compared with cell death induced by treatment with 24S-OHC alone. Using electron microscopy, we find in the present study that 24S-OHC induces formation of LD-like structures coupled with enlarged endoplasmic reticulum (ER) lumina, and that these effects are suppressed by treatment with ACAT inhibitor. Collectively, these results illustrate that ACAT1-catalyzed esterification of 24S-OHC with long-chain unsaturated fatty acid followed by formation of atypical LD-like structures at the ER membrane is a critical requirement for 24S-OHC-induced cell death. PMID:27647838

Tinea capitis in Campania, Italy: a 9-year retrospective study.

PubMed

Calabrò, G; Patalano, A; Fiammenghi, E; Chianese, C

2015-08-01

The present work was carried out to study the prevalence of Tinea capitis (TC) in Campania over a 9-year period and also to delineate the prevalence of the causative fungus responsible and the clinical forms of tinea capitis. This retrospective study included all the cases of TC occurring between January 2004 and December 2012 to the Mycology Laboratory at the University of Naples "Federico II" and mycologically confirmed. Samples for potassium hydroxide 20% mounts and fungal cultures were collected. Sabouraud dextrose agar were inoculated with the samples. TC was diagnosed by direct microscopy and culture in 143 patients. TC was found to be most common in the group including patients aged between 1-18 years; 13% of patients were over 18 years old. Non-inflammatory clinical forms were the most common type (80.4%). M. canis was the dermatophyte most frequently isolated (64.1%). Microscopic examination revealed an ectothrix pattern of hair invasion to be more common (72% cases). TC was clinical and mycologically diagnosed in 143 patients. It was prevalent in patients aged 1-18 years old; 73.2% of adults affected by TC had possible risk factors and in these patients TC often presented in atypical forms; atypical forms were also observed in children. M. canis was the most common dermatophyte species isolated in children, T. rubrum in adults. We noticed a significant increase of anthropophilic dermatophytes possibly linked to the immigration from African countries. For the diagnosis of TC, mycological examinations are essential.

Is color an intrinsic property of object representation?

PubMed

Naor-Raz, Galit; Tarr, Michael J; Kersten, Daniel

2003-01-01

The role of color in object representation was examined by using a variation of the Stroop paradigm in which observers named the displayed colors of objects or words. In experiment 1, colors of color-diagnostic objects were manipulated to be either typical or atypical of the object (eg a yellow banana versus a purple banana). A Stroop-like effect was obtained, with faster color-naming times for the typical as compared to the atypical condition. In experiment 2, naming colors on words specifying these same color-diagnostic objects reversed this pattern, with the typical condition producing longer response times than the atypical condition. In experiment 3, a blocked condition design that used the same words and colors as experiment 2 produced the standard Stroop-like facilitation for the typical condition. These results indicate that color is an intrinsic property of an object's representation at multiple levels. In experiment 4, we examined the specific level(s) at which color-shape associations arise by following the tasks used in experiments 1 and 2 with a lexical-decision task in which some items were conceptually related to items shown during color naming (eg banana/monkey). Priming for these associates was observed following color naming of words, but not pictures, providing further evidence that the color-shape associations responsible for the differing effects obtained in experiments 1 and 2 are due to the automatic activation of color-shape associations at different levels of representation.

Database of Autotransplants for Breast Cancer.

DTIC Science & Technology

1996-12-01

Infections (Indicate code for atypical bacteria; 301 Herpes Simplex (HSV1, HSV2) list bacterium for non-atypical bacteria.) 302 Herpes Zoster ( Chicken pox ...for non-atypical bacteria.) 302 Herpes Zoster ( Chicken pox , Varicella) 303 Cytomegalovirus (CMV) 100 Atypical bacteria, not otherwise specified 304... Chicken pox , Varicella) 303 Cytomegalovirus (CMV) 100 Atypical bacteria, not otherwise specified 304 Adenovirus 101 Coxiella 305 Enterovirus (Coxsackie

Subacute sclerosing panencephalitis presenting as acute cerebellar ataxia and brain stem hyperintensities.

PubMed

Saini, Arushi Gahlot; Sankhyan, Naveen; Padmanabh, Hansashree; Sahu, Jitendra Kumar; Vyas, Sameer; Singhi, Pratibha

2016-05-01

Subacute sclerosing panencephalitis is a devastating neurodegenerative disease with a characteristic clinical course. Atypical presentations may be seen in 10% of the cases. To describe the atypical clinical and radiological features of SSPE in a child form endemic country. A 5-year-old boy presented with acute-onset cerebellar ataxia without associated encephalopathy, focal motor deficits, seizures or cognitive decline. He had varicella-like illness with vesicular, itchy truncal rash erupting one month prior to the onset of these symptoms. He underwent detailed neurological assessment, relevant laboratory and radiological investigations. Neuroimaging revealed peculiar brain stem lesions involving the pons and cerebellum suggestive of demyelination. With a presumptive diagnosis of clinically isolated syndrome of demyelination, he was administered pulse methylprednisolone (30 mg/kg/day for 5 days). Four weeks later he developed myoclonic jerks. Electroencephalogram showed characteristic periodic complexes time-locked with myoclonus. CSF and serum anti-measles antibody titres were elevated (1:625). Our report highlights that subacute sclerosing panencephalitis can present atypically as isolated acute cerebellar ataxia and peculiar involvement of longitudinal and sparing of transverse pontine fibres. The predominant brainstem abnormalities in the clinical setting may mimick acute demyelinating syndrome. Hence, it is important to recognize these features of subacute sclerosing panencephalitis in children, especially in the endemic countries. Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Brain signatures of moral sensitivity in adolescents with early social deprivation.

PubMed

Escobar, María Josefina; Huepe, David; Decety, Jean; Sedeño, Lucas; Messow, Marie Kristin; Baez, Sandra; Rivera-Rei, Álvaro; Canales-Johnson, Andrés; Morales, Juan Pablo; Gómez, David Maximiliano; Schröeder, Johannes; Manes, Facundo; López, Vladimir; Ibánez, Agustín

2014-06-19

The present study examined neural responses associated with moral sensitivity in adolescents with a background of early social deprivation. Using high-density electroencephalography (hdEEG), brain activity was measured during an intentional inference task, which assesses rapid moral decision-making regarding intentional or unintentional harm to people and objects. We compared the responses to this task in a socially deprived group (DG) with that of a control group (CG). The event-related potentials (ERPs) results showed atypical early and late frontal cortical markers associated with attribution of intentionality during moral decision-making in DG (especially regarding intentional harm to people). The source space of the hdEEG showed reduced activity for DG compared with CG in the right prefrontal cortex, bilaterally in the ventromedial prefrontal cortex (vmPFC), and right insula. Moreover, the reduced response in vmPFC for DG was predicted by higher rates of externalizing problems. These findings demonstrate the importance of the social environment in early moral development, supporting a prefrontal maturation model of social deprivation.

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

PubMed

Serrano, Mercedes; Rebollo, Mónica; Depienne, Christel; Rastetter, Agnès; Fernández-Álvarez, Emilio; Muchart, Jordi; Martorell, Loreto; Artuch, Rafael; Obeso, José A; Pérez-Dueñas, Belén

2012-09-01

Thiamine transporter-2 deficiency, a condition resulting from mutations in the SLC19A3 gene, has been described in patients with subacute dystonia and striatal necrosis. The condition responds extremely well to treatment with biotin and has thus been named biotin-responsive basal ganglia disease. Recently, this deficiency has also been related to Wernicke's-like encephalopathy and atypical infantile spasms, showing heterogeneous responses to biotin and/or thiamine. Two Spanish siblings with a biotin-responsive basal ganglia disease phenotype and mutations in SLC19A3 presented with acute episodes of generalized dystonia, rigidity, and symmetrical lesions involving the striatum, midline nuclei of the thalami, and the cortex of cerebral hemispheres as shown by magnetic resonance imaging. The clinical features resolved rapidly after thiamine administration. Despite the rarity of thiamine transporter-2 deficiency, it should be suspected in patients with acute dystonia and basal ganglia injury, as thiamine can halt disease evolution and prevent further episodes. © 2012 Movement Disorder Society. Copyright © 2012 Movement Disorder Society.

[Clinical course of acute poisoning with olanzapine].

PubMed

Balicka-Slusarczyk, Barbara; Szczeklik, Jerzy; Szpak, Dorota; Groszek, Barbara

2005-01-01

Olanzapine is a new atypical antipsychotic drug acting on different receptors. A variety of pharmacologic effects are responsible for toxicity and the variety of clinical symptoms seen in overdose: tachycardia, agitation or aggression, dysarthria, extrapyramidal dystonic effects, sedation or coma, small pupils, blurred vision, respiratory depression, hypotension. A retrospective analysis of clinical course of eight acute olanzapine intoxication treated at the Department of Clinical Toxicology Jagiellonian University Medical College is presented. CNS symptoms manifested in fluctuations between somnolence/coma and agitation/aggression and miosis were observed in most of the patients. Increased CPK activity was stated in the most of patients. All of the patients recovered, poisoning severity according PSS was moderate and severe.

The interaction between young people with atypical gender identity organization and their peers.

PubMed

Wilson, Ian; Griffin, Christine; Wren, Bernadette

2005-05-01

This exploratory study involved the qualitative analysis of the responses of eight children with atypical gender identity organization to open-ended questions about their experiences of secondary school. The aim was to develop an understanding of these young people's interaction with their peers. It became apparent that all but one of the participants had been bullied. In this context, participants reported difficulties in developing friendships, although each participant received support from at least one of their peers. Given the hostile school environment participants did not necessarily talk to these individuals about their experiences in relation to their gender identity. The clinical implications for working with young people on a developing gender identity, and the impact on their mental health, are considered.

The organization of the stress system and its dysregulation in depressive illness.

PubMed

Gold, P W

2015-02-01

Stressors are imminent or perceived challenges to homeostasis. The stress response is an innate, stereotypic, adaptive response to stressors that has evolved in the service of restoring the nonstressed homeostatic set point. It is encoded in specific neuroanatomical sites that activate a specific repertoire of cognitive, behavioral and physiologic phenomena. Adaptive responses, though essential for survival, can become dysregulated and result in disease. A clear example is autoimmune disease. I postulate that depression, like autoimmunity, represents a dysregulated adaptive response: a stress response that has gone awry. The cardinal manifestation of the normal stress response is anxiety. Cognitive programs shift from complex associative operations to rapid retrieval of unconscious emotional memories acquired during prior threatening situations. These emerge automatically to promote survival. To prevent distraction during stressful situations, the capacity to seek and experience pleasure is reduced, food intake is diminished and sexual activity and sleep are held in abeyance. Monoamines, cytokines, glutamate, GABA and other central mediators have key roles in the normal stress response. Many central loci are involved. The subgenual prefrontal cortex restrains the amygdala, the corticotropin-releasing hormone/hypothalamic-pituitary-adrenal (CRH/HPA) axis and the sympathomedullary system. The function of the subgenual prefrontal cortex is moderately diminished during normal stress to disinhibit these loci. This disinhibition promotes anxiety and physiological hyperarousal, while diminishing appetite and sleep. The dorsolateral prefrontal cortex is downregulated, diminishing cognitive regulation of anxiety. The nucleus accumbens is also downregulated, to reduce the propensity for distraction by pleasurable stimuli or the capacity to experience pleasure. Insulin resistance, inflammation and a prothrombotic state acutely emerge. These provide increased glucose for the brain and establish premonitory, proinflammatory and prothrombotic states in anticipation of either injury or hemorrhage during a threatening situation. Essential adaptive intracellular changes include increased neurogenesis, enhancement of neuroplasticity and deployment of a successful endoplasmic reticulum stress response. In melancholic depression, the activities of the central glutamate, norepinephrine and central cytokine systems are significantly and persistently increased. The subgenual prefrontal cortex is functionally impaired, and its size is reduced by as much as 40%. This leads to sustained anxiety and activations of the amygdala, CRH/HPA axis, the sympathomedullary system and their sequella, including early morning awakening and loss of appetite. The sustained activation of the amygdala, in turn, further activates stress system neuroendocrine and autonomic functions. The activity of the nucleus accumbens is further decreased and anhedonia emerges. Concomitantly, neurogenesis and neuroplasticity fall significantly. Antidepressants ameliorate many of these processes. The processes that lead to the behavioral and physiological manifestations of depressive illness produce a significant decrease in lifespan, and a doubling of the incidence of premature coronary artery disease. The incidences of premature diabetes and osteoporosis are also substantially increased. Six physiological processes that occur during stress and that are markedly increased in melancholia set into motion six different mechanisms to produce inflammation, as well as sustained insulin resistance and a prothrombotic state. Clinically, melancholic and atypical depression seem to be antithesis of one another. In melancholia, depressive systems are at their worst in the morning when arousal systems, such as the CRH/HPA axis and the noradrenergic systems, are at their maxima. In atypical depression, depressive symptoms are at their worst in the evening, when these arousal systems are at their minima. Melancholic patients experience anorexia and insomnia, whereas atypical patients experience hyperphagia and hypersomnia. Melancholia seems like an activation and persistence of the normal stress response, whereas atypical depression resembles a stress response that has been excessively inhibited. It is important that we stratify clinical studies of depressed patients to compare melancholic and atypical subtypes and establish their differential pathophysiology. Overall, it is important to note that many of the major mediators of the stress response and melancholic depression, such as the subgenual prefrontal cortex, the amygdala, the noradrenergic system and the CRH/HPA axis participate in multiple reinforcing positive feedback loops. This organization permits the establishment of the markedly exaggerated, persistent elevation of the stress response seen in melancholia. Given their pronounced interrelatedness, it may not matter where in this cascade the first abnormality arises. It will spread to the other loci and initiate each of their activations in a pernicious vicious cycle.

Long-acting atypical injectable antipsychotics in the treatment of schizophrenia: safety and tolerability review.

PubMed

Cañas, Fernando; Möller, Hans-Jürgen

2010-09-01

Although atypical antipsychotics have beneficial efficacy and tolerance, non-adherence and partial adherence remain in patients treated for schizophrenia. Long-acting injectable or depot atypical antipsychotics offer better medication adherence and tolerability advantages. Currently, two drugs are available for the treatment of schizophrenia, risperidone long-acting injectable (RLAI) and olanzapine pamoate (OP). Short- and long-term safety and tolerability data on RLAI and OP from January 2006 through September 2009 were reviewed by performing Medline and PubMed searches, reviewing abstracts and poster presentations, and viewing available material from the FDA and European Medicines Agency. RLAI and OP show good short- and long-term safety when treating patients with schizophrenia, with uncommon discontinuation due to adverse effects. RLAI and OP data show rare problems with injection site reactions and patients exposed to injectable treatments prefer to continue injections. Infrequent but serious post-injection delirium sedation syndrome occurred after 1% of OP injections. Weight gain was generally higher among patients treated with OP versus RLAI. Healthcare providers, patients and family members should be made aware of the safety and benefits of long-acting injectable atypical antipsychotics in order to diminish the unnecessary restrictions of these therapies for patients with schizophrenia.

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

PubMed

Le Ber, Isabelle; De Septenville, Anne; Guerreiro, Rita; Bras, José; Camuzat, Agnès; Caroppo, Paola; Lattante, Serena; Couarch, Philippe; Kabashi, Edor; Bouya-Ahmed, Kawtar; Dubois, Bruno; Brice, Alexis

2014-10-01

TREM2 mutations were first identified in Nasu-Hakola disease, a rare autosomal recessive disease characterized by recurrent fractures because of bone cysts and presenile dementia. Recently, homozygous and compound heterozygous TREM2 mutations were identified in rare families with frontotemporal lobar degeneration (FTLD) but without bone involvement. We identified a p.Thr66Met heterozygous mutation in a new consanguineous Italian family. Two sibs had early onset autosomal recessive FTLD without severe bone disorders. Atypical signs were present in this family: early parietal and hippocampus involvement, parkinsonism, epilepsy, and corpus callosum thickness on brain magnetic resonance imaging. This study further demonstrates the implication of TREM2 mutations in FTLD phenotypes. It illustrates the variability of bone phenotype and underlines the frequency of atypical signs in TREM2 carriers. This and previous studies evidence that TREM2 mutation screening should be limited to autosomal recessive FTLD with atypical phenotypes characterized by: (1) a very young age at onset (20-50 years); (2) early parietal and hippocampal deficits; (3) the presence of seizures and parkinsonism; (4) suggestive extensive white matter lesions and corpus callosum thickness on brain magnetic resonance imaging. Copyright © 2014 Elsevier Inc. All rights reserved.

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

PubMed Central

Bras, José; Camuzat, Agnès; Caroppo, Paola; Lattante, Serena; Couarch, Philippe; Kabashi, Edor; Bouya-Ahmed, Kawtar; Dubois, Bruno; Brice, Alexis

2014-01-01

TREM2 mutations were first identified in Nasu-Hakola disease, a rare autosomal recessive disease characterized by recurrent fractures because of bone cysts and presenile dementia. Recently, homozygous and compound heterozygous TREM2 mutations were identified in rare families with frontotemporal lobar degeneration (FTLD) but without bone involvement. We identified a p.Thr66Met heterozygous mutation in a new consanguineous Italian family. Two sibs had early onset autosomal recessive FTLD without severe bone disorders. Atypical signs were present in this family: early parietal and hippocampus involvement, parkinsonism, epilepsy, and corpus callosum thickness on brain magnetic resonance imaging. This study further demonstrates the implication of TREM2 mutations in FTLD phenotypes. It illustrates the variability of bone phenotype and underlines the frequency of atypical signs in TREM2 carriers. This and previous studies evidence that TREM2 mutation screening should be limited to autosomal recessive FTLD with atypical phenotypes characterized by: (1) a very young age at onset (20–50 years); (2) early parietal and hippocampal deficits; (3) the presence of seizures and parkinsonism; (4) suggestive extensive white matter lesions and corpus callosum thickness on brain magnetic resonance imaging. PMID:24910390

Exploring the perceptual spaces of faces, cars and birds in children and adults

PubMed Central

Tanaka, James W.; Meixner, Tamara L.; Kantner, Justin

2011-01-01

While much developmental research has focused on the strategies that children employ to recognize faces, less is known about the principles governing the organization of face exemplars in perceptual memory. In this study, we tested a novel, child-friendly paradigm for investigating the organization of face, bird and car exemplars. Children ages 3–4, 5–6, 7–8, 9–10, 11–12 and adults were presented with 50/50 morphs of typical and atypical face, bird and car parent images. Participants were asked to judge whether the 50/50 morph more strongly resembled the typical or the atypical parent image. Young and older children and adults showed a systematic bias to the atypical faces and birds, but no bias toward the atypical cars. Collectively, these findings argue that by the age of 3, children encode and organize faces, birds and cars in a perceptual space that is strikingly similar to that of adults. Category organization for both children and adults follows Krumhansl’s (1978) distance-density principle in which the similarity between two exemplars is jointly determined by their physical appearance and the density of neighboring exemplars in the perceptual space. PMID:21676096

The psychopharmacology of aggressive behavior: a translational approach: part 2: clinical studies using atypical antipsychotics, anticonvulsants, and lithium.

PubMed

Comai, Stefano; Tau, Michael; Pavlovic, Zoran; Gobbi, Gabriella

2012-04-01

Patients experiencing mental disorders are at an elevated risk for developing aggressive behavior. In the past 10 years, the psychopharmacological treatment of aggression has changed dramatically owing to the introduction of atypical antipsychotics on the market and the increased use of anticonvulsants and lithium in the treatment of aggressive patients.This review (second of 2 parts) uses a translational medicine approach to examine the neurobiology of aggression, discussing the major neurotransmitter systems implicated in its pathogenesis (serotonin, glutamate, norepinephrine, dopamine, and γ-aminobutyric acid) and the neuropharmacological rationale for using atypical antipsychotics, anticonvulsants, and lithium in the therapeutics of aggressive behavior. A critical review of all clinical trials using atypical antipsychotics (aripiprazole, clozapine, loxapine, olanzapine, quetiapine, risperidone, ziprasidone, and amisulpride), anticonvulsants (topiramate, valproate, lamotrigine, and gabapentin), and lithium are presented. Given the complex, multifaceted nature of aggression, a multifunctional combined therapy, targeting different receptors, seems to be the best strategy for treating aggressive behavior. This therapeutic strategy is supported by translational studies and a few human studies, even if additional randomized, double-blind, clinical trials are needed to confirm the clinical efficacy of this framework.

RNA-Binding Proteins in Trichomonas vaginalis: Atypical Multifunctional Proteins Involved in a Posttranscriptional Iron Regulatory Mechanism

PubMed Central

Figueroa-Angulo, Elisa E.; Calla-Choque, Jaeson S.; Mancilla-Olea, Maria Inocente; Arroyo, Rossana

2015-01-01

Iron homeostasis is highly regulated in vertebrates through a regulatory system mediated by RNA-protein interactions between the iron regulatory proteins (IRPs) that interact with an iron responsive element (IRE) located in certain mRNAs, dubbed the IRE-IRP regulatory system. Trichomonas vaginalis, the causal agent of trichomoniasis, presents high iron dependency to regulate its growth, metabolism, and virulence properties. Although T. vaginalis lacks IRPs or proteins with aconitase activity, possesses gene expression mechanisms of iron regulation at the transcriptional and posttranscriptional levels. However, only one gene with iron regulation at the transcriptional level has been described. Recently, our research group described an iron posttranscriptional regulatory mechanism in the T. vaginalis tvcp4 and tvcp12 cysteine proteinase mRNAs. The tvcp4 and tvcp12 mRNAs have a stem-loop structure in the 5'-coding region or in the 3'-UTR, respectively that interacts with T. vaginalis multifunctional proteins HSP70, α-Actinin, and Actin under iron starvation condition, causing translation inhibition or mRNA stabilization similar to the previously characterized IRE-IRP system in eukaryotes. Herein, we summarize recent progress and shed some light on atypical RNA-binding proteins that may participate in the iron posttranscriptional regulation in T. vaginalis. PMID:26703754

Mixed states in bipolar disorder - changes in DSM-5 and current treatment recommendations.

PubMed

Betzler, Felix; Stöver, Laura Apollonia; Sterzer, Philipp; Köhler, Stephan

2017-11-01

Mixed states in affective disorders represent a particular challenge in clinical routine, characterized by a complicated course of treatment and a worse treatment response. Clinical features of mixed states and the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria are presented and critical discussed. We then performed a systematic review using the terms 'bipolar', 'mixed' and 'randomized' to evaluate current treatment options. For pharmacological treatment of mixed states in total, there is still insufficient data from RCTs. However, there is some evidence for efficacy in mixed states from RCTs for atypical antipsychotics, especially olanzapine, aripiprazole and asenapine as well as mood stabilizers as valproate and carbamazepine. Mixed states are of a high clinical relevance and the DSM-5 criteria substantially reduced the diagnostic threshold. Besides advantages of a better characterization of patients with former DSM-IV-defined mixed episodes, disadvantages arise for example differential diagnoses with a substantial overlap in symptoms such as borderline personality disorders. Atypical antipsychotics, valproate and carbamazepine demonstrated efficacy in a limited sample of RCTs. The number of RCTs in the treatment of mixed states is highly limited. Furthermore, nearly all studies were funded by pharmaceutical companies which may lead to an underestimation of classical mood stabilizers such as lithium.

Viral-associated lymphoid proliferations☆

PubMed Central

Pittaluga, Stefania

2013-01-01

The histological spectrum of viral-associated lymphoid proliferations is quite broad, ranging from reactive lymphadenitis to atypical proliferations mimicking classical Hodgkin lymphoma or non-Hodgkin lymphoma. Virally associated reactive lesions can appear quite alarming on histological examination, because of direct (cytopathic) and indirect viral-induced changes eliciting a polymorphic cellular host response. In addition, the atypical lymphoid proliferation may show aberrant phenotypic features as well as restricted/clonal gene immunoglobulin or T-cell receptor rearrangements, further complicating the interpretation. In order to achieve an accurate diagnosis, it is important to be aware of the clinical history, including family history and ethnic background, clinical presentation, symptoms, and extent of the disease. Among the clinical data, particular emphasis should be placed on serology and viral load studies, and the use of immunosuppressive drugs. The clinical course and outcome vary greatly, from an indolent, self-limited to aggressive clinical course, blurring at times the distinction between neoplastic and reactive proliferations. It is now recognized that immunosenescence also plays a significant role in the development of these viral-associated lymphoid proliferations, and new entities have been described in recent years. In this review we discuss mostly Epstein–Barr virus-associated viral proliferations that may be confused with lymphomas, which the practicing pathologist may encounter. PMID:23537914

Clinicopathologic features and pathogenesis of melanocytic colonization in atypical meningioma.

PubMed

Dehghan Harati, Mitra; Yu, Andrew; Magaki, Shino D; Perez-Rosendahl, Mari; Im, Kyuseok; Park, Young K; Bergsneider, Marvin; Yong, William H

2018-02-01

Only two prior cases of benign dendritic melanocytes colonizing a meningioma have been reported. We add a third case, describe clinicopathologic features shared by the three, and elucidate the risk factors for this very rare phenomenon. A 29 year-old Hispanic woman presented with headache and hydrocephalus. MRI showed a lobulated enhancing pineal region mass measuring 41 mm in greatest dimension. Subtotal resection of the mass demonstrated an atypical meningioma, WHO grade II, and the patient subsequently underwent radiotherapy. She presented 4 years later with diplopia, and MRI showed an enhancing extra-axial mass measuring 47 mm in greatest dimension and centered on the tentorial incisura. Subtotal resection showed a brain-invasive atypical meningioma with melanocytic colonization. The previous two cases in the literature were atypical meningiomas, one of which was also brain invasive. Atypical meningiomas may be at particular risk for melanocytic colonization as they upregulate molecules known to be chemoattractants for melanocytes. We detected c-Kit expression in a minority of the melanocytes as well as stem cell factor and basic fibroblast growth factor in the meningioma cells, suggesting that mechanisms implicated in normal melanocyte migration may be involved. In some cases, brain invasion with disruption of the leptomeningeal barrier may also facilitate migration from the subarachnoid space into the tumor. Whether there is low-level proliferation of the dendritic melanocytes is unclear. Given that all three patients were non-Caucasian, meningiomas in persons and/or brain regions with increased dendritic melanocytes may predispose to colonization. The age range spanned from 6 years old to 70 years old. All three patients were female. The role of gender and estrogen in the pathogenesis of this entity remains to be clarified. Whether melanocytic colonization may also occur in the more common Grade I meningiomas awaits identification of additional cases. © 2017 Japanese Society of Neuropathology.

Atypical serum immunofixation patterns frequently emerge in immunomodulatory therapy and are associated with a high degree of response in multiple myeloma.

PubMed

Mark, Tomer; Jayabalan, David; Coleman, Morton; Pearse, Roger N; Wang, Y Lynn; Lent, Richard; Christos, Paul J; Lee, Joong W; Agrawal, Yash P; Matthew, Susan; Ely, Scott; Mazumdar, Madhu; Cesarman, Ethel; Leonard, John P; Furman, Richard R; Chen-Kiang, Selina; Niesvizky, Ruben

2008-12-01

The M-protein is the major reference measure for response in multiple myeloma (MM) and its correct interpretation is key to clinical management. The emergence of oligoclonal banding is recognized as a benign finding in the postautologous stem cell transplantation setting (ASCT) for MM but its significance during non-myeloablative therapy is unknown. In a study of the immunomodulatory combination BiRD, (lenalidomide and dexamethasone with clarithromycin), we frequently detected the emergence of mono- and oligo-clonal immunoglobulins unrelated to the baseline diagnostic M-protein. The new M-proteins seen on serum immunofixation electrophoresis were clearly different in either heavy or light chain component(s) from the original M-spike protein and were termed atypical serum immunofixation patterns (ASIPs). Overall, 24/72 (33%) patients treated with BiRD developed ASIPs. Patients who developed ASIPs compared with patients treated with BiRD without ASIPs, had a significantly greater overall response (100% vs. 85%) and complete response rates (71% vs. 23%). ASIPs were not associated with new clonal plasma cells or other lymphoproliferative processes, and molecular remissions were documented. This is the first time this phenomenon has been seen with regularity in non-myeloablative therapy for MM. Analogous to the ASCT experience, ASIPs do not signal incipient disease progression, but rather herald robust response.

Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.

PubMed

Dutra, Roberta L; Piazzon, Flavia B; Zanardo, Évelin A; Costa, Thais Virginia Moura Machado; Montenegro, Marília M; Novo-Filho, Gil M; Dias, Alexandre T; Nascimento, Amom M; Kim, Chong Ae; Kulikowski, Leslie D

2015-12-01

Williams-Beuren syndrome (WBS) is caused by a hemizygous contiguous gene microdeletion of 1.55-1.84 Mb at 7q11.23 region. Approximately, 28 genes have been shown to contribute to classical phenotype of SWB with presence of dysmorphic facial features, supravalvular aortic stenosis (SVAS), intellectual disability, and overfriendliness. With the use of Microarray-based comparative genomic hybridization and other molecular cytogenetic techniques, is possible define with more accuracy partial or atypical deletion and refine the genotype-phenotype correlation. Here, we report on a rare genomic structural rearrangement in a boy with atypical deletion in 7q11.23 and XYY syndrome with characteristic clinical signs, but not sufficient for the diagnosis of WBS. Cytogenetic analysis of G-banding showed a karyotype 47,XYY. Analysis of DNA with the technique of MLPA (Multiplex Ligation-dependent Probe Amplification) using kits a combination of kits (P064, P036, P070, and P029) identified an atypical deletion on 7q11.23. In addition, high resolution SNP Oligonucleotide Microarray Analysis (SNP-array) confirmed the alterations found by MLPA and revealed others pathogenic CNVs, in the chromosomes 7 and X. The present report demonstrates an association not yet described in literature, between Williams-Beuren syndrome and 47,XYY. The identification of atypical deletion in 7q11.23 concomitant to additional pathogenic CNVs in others genomic regions allows a better comprehension of clinical consequences of atypical genomic rearrangements. © 2015 Wiley Periodicals, Inc.

Atypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case study

PubMed Central

Węgrzyn, Grzegorz; Kurlenda, Julianna; Liberek, Anna; Tylki-Szymańska, Anna; Czartoryska, Barbara; Piotrowska, Ewa; Jakóbkiewicz-Banecka, Joanna; Węgrzyn, Alicja

2005-01-01

Background Mucopolysaccharidoses are heritable, metabolic diseases caused by deficiency in an activity of one of specific lysosomal enzymes involved in degradation of mucoplysaccharides (glycosaminoglycans). Among many medical problems of patients with mucopolysaccharidoses, there are frequent episodes of diarrhea of unknown etiology. Case presentation A girl, diagnosed enzymatically for mucopolysaccharidosis type I (deficiency of α-L-iduronidase) at the age of 3 years and 9 months, was investigated until the age of 5 years and 4 months. Frequent loose stools and episodes of diarrhea, often accompanied by vomiting, were encountered. Detailed microbiological analyses were performed and atypical microbial infections (most often enetropathogenic Escherichia coli, but also other species, like Pseudomonas aeruginosa or Staphylococcus aureus, as well as adenoviruses) of the digestive tract were found in most severe diarrhea episodes. Often, isolations of pathogenic bacterial strains from stools of the investigated patient suffering from diarrhea were not obvious during the first screening, and only detailed microbiological studies, including re-isolation of colonies, gave the results of isolation of particular pathogenic strains (especially in the case of enetropathogenic E. coli). Conclusion We conclude that atypical microbial infections of digestive tract may contribute significantly to diarrhea in mucopolysaccaridosis patients. Since isolated strains were not typical and their isolation was often possible only after detailed investigation (not during a standard screening), such atypical microbial infections of digestive tract of mucopolysaccharidosis patients could be usually overlooked to date. Importantly, these atypical infections could be effectively treated with antimicrobial agents. PMID:15882450

Increased risk for an atypical autism diagnosis following Thimerosal-containing vaccine exposure in the United States: A prospective longitudinal case-control study in the Vaccine Safety Datalink.

PubMed

Geier, David A; Kern, Janet K; Geier, Mark R

2017-07-01

Thimerosal is an organic-mercury (Hg)-containing compound (49.55% Hg by weight) historically added to many multi-dose vials of vaccine as a preservative and still added to some vaccines today. Concerns about the toxic effects from Thimerosal-containing childhood vaccines and the risk of an atypical autism diagnosis were evaluated in this study. A hypothesis-testing, prospective longitudinal, case-control study assessed exposure to Hg from Thimerosal-containing hepatitis B vaccines (TM-HepB) among cases diagnosed with atypical autism (n=164) and controls (n=15,216). Automated medical records for subjects born from 1991 to 2000 and continuously enrolled in the Vaccine Safety Datalink (VSD) database were examined. Cases diagnosed with atypical autism were statistically significantly more likely to have received greater overall and dose-dependent exposures to Hg from TM-HepB vaccines administered within the first month of life, first two months of life, and first six months of life than the controls. Similar phenomena were observed when cases and controls were separated by gender. Routine childhood vaccination is an important public health tool to reduce infectious diseases. The present study provides important epidemiological evidence significantly associating increasing Hg exposure from Thimerosal-containing childhood vaccines and the subsequent risk of atypical autism diagnosis, and suggests that Thimerosal should be eliminated from vaccines. Copyright © 2017 Elsevier GmbH. All rights reserved.

Identifying and treating a life-threatening disease.

PubMed

Cole, Beverley

2014-02-01

Meningococcal septicaemia is a life-threatening condition that all nurses working in emergency and urgent care settings are likely to come across during their careers. This article presents, and reflects on, a case study involving a woman with the disease whose signs and symptoms were atypical, and who was not therefore diagnosed with the condition immediately. The author aims to raise awareness among emergency nurses and nurse practitioners of the atypical signs and symptoms of the infection, and its consequences. The article also discusses how referring to patient scenarios can improve practice.

Surgical management of cutaneous infection caused by atypical mycobacteria after penetrating injury: the hidden dangers of horticulture.

PubMed

Holland, J; Smith, C; Childs, P A; Holland, A J

1997-02-01

We identified two patients in a 12-month period who presented with cutaneous infection and secondary lymph node involvement from atypical mycobacterial infection after minor gardening injuries. One patient had a coinfection with Nocardia asteroides. Both patients required multiple surgical interventions, despite appropriate antibiotic therapy, before resolution of the disease. The course of the infection was characterized by chronic relapses with complete healing at 12 to 18 months after the original injury. The identification and management of this clinical problem are reviewed.

[Clinical heterogeneity of atypical fractures during prolonged use of bisphosphonates--risk factors and bone turnover markers].

PubMed

Piazzetta, Giovana; Baracho, Filipe R; Oliveira, Larissa de; Santos, Gustavo R; Kulak, Carolina A M; Borba, Victória Z C

2014-11-01

We describe four cases of atypical femoral fractures treated at the Department of Endocrinology, Hospital de Clínicas, Federal University of Paraná (SEMPR) which, although characteristic of this type of fracture, presented clinical peculiarities that should be considered and serve as a warning in these patients, such as: late diagnosis with maintenance of bisphosphonates; absence of co-morbidities with excellent result; failure of fracture healing; use of anabolic medication after the fracture and the use of bone turnover markers at the follow up.

Histological and molecular biology diagnosis of neurocysticercosis in a patient without history of travel to endemic areas – Case report

PubMed Central

L’Ollivier, C.; González, L.M.; Gárate, T.; Martin, L.; Martha, B.; Duong, M.; Huerre, M.; Cuisenier, B.; Harrison, L.J.S.; Dalle, F.; Bonnin, A.

2012-01-01

Background: in endemic areas, neurocysticercosis appears mainly as a single, large, spherical and non-enhancing intracranial cyst. Case presentation: an atypical case of neurocysticercosis (NCC) in a French Caucasian, without history of travel to endemic areas, was confirmed by histology and molecular speciation. Imaging was atypical, showing several hook-bearing scolices visible in the cyst, while the serology employed was non-contributary. Conclusions: NCC should be considered when multiple taeniid scolices are observed within the same cystic lesion. PMID:23193531

Endodontic management of maxillary first molar with atypical canal morphology: Report of three cases

PubMed Central

Sherwani, Osama Adeel Khan; Kapoor, Bhumika; Sharma, Rajat; Mishra, Surendra Kumar

2016-01-01

Maxillary first molar with three roots and 3–4 canals is a common occurrence. However, extreme variations in their canal morphology have been reported ranging from one single canal and one root to as many as eight root canals. This article presents three cases of successful endodontic management of maxillary first molars with atypical canal morphologies, thus highlighting the fact that variations do occur and an endodontist should always be aware of aberrancies in root canal system apart from the knowledge of normal root canal anatomy. PMID:27994427

Atypical findings in three patients with Pai syndrome and literature review.

PubMed

Lederer, Damien; Wilson, Brian; Lefesvre, Pierre; Poorten, Vincent Vander; Kirkham, Nigel; Mitra, Dipayan; Verellen-Dumoulin, Christine; Devriendt, Koenraad

2012-11-01

Pai syndrome is a rare disorder characterized by congenital nasal or facial polyp, midline cleft lip, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report on three patients with Pai syndrome and atypical findings: temporal triangular alopecia, posterior lenticonus, bilateral palatal pits, bifid uvula, hypospadias, sacral dimple, true tracheal bronchus, and epilepsy. Thirty-three cases of Pai syndrome have been described so far. We present a review of the previously reported cases and suggest modified diagnostic criteria for Pai syndrome. Copyright © 2012 Wiley Periodicals, Inc.

Differential Effects of Various Typical and Atypical Antipsychotics on Plasma Glucose and Insulin Levels in the Mouse: Evidence for the Involvement of Sympathetic Regulation

PubMed Central

Savoy, Yvette E.; Ashton, Michael A.; Miller, Matthew W.; Nedza, Frank M.; Spracklin, Douglas K.; Hawthorn, Mark H.; Rollema, Hans; Matos, F. Fatima; Hajos-Korcsok, Eva

2010-01-01

Atypical antipsychotic treatment has been associated with serious metabolic adverse events, such as glucose dysregulation and development of type 2 diabetes. As part of our studies on possible underlying mechanisms, we investigated the acute effects of various typical and atypical antipsychotics on plasma glucose and insulin in FVB/N mice, a strain that showed a more pronounced hyperglycemic response to clozapine than C57BL/6 and CD-1 mice. Acute administration of high doses of clozapine, olanzapine, quetiapine, perphenazine, or chlorpromazine significantly increased plasma glucose by 100%–140% above basal levels without significant effects on insulin levels. In contrast, risperidone reduced plasma glucose (−30%) and markedly enhanced plasma insulin levels. Doses of ziprasidone that gave 50-fold higher free plasma concentrations than therapeutic plasma levels, as well as high doses of aripiprazole and haloperidol, did not significantly alter either glucose or insulin levels. Clozapine- and olanzapine-induced hyperglycemia occurred at free plasma concentrations that were within, or one order of magnitude above, the range of therapeutic plasma levels. Pretreatment with either the ganglionic blocker hexamethonium, or the α2 adrenergic receptor antagonist yohimbine, blocked the clozapine- and chlorpromazine-induced increase in glucose levels. Taken together, these results suggest that typical and atypical antipsychotics with known metabolic liability produce acute hyperglycemia in mice and that this effect is likely driven by activation of the sympathetic autonomic nervous system via a central mechanism. PMID:18703666

Atypical right hemisphere response to slow temporal modulations in children with developmental dyslexia.

PubMed

Cutini, Simone; Szűcs, Dénes; Mead, Natasha; Huss, Martina; Goswami, Usha

2016-12-01

Phase entrainment of neuronal oscillations is thought to play a central role in encoding speech. Children with developmental dyslexia show impaired phonological processing of speech, proposed theoretically to be related to atypical phase entrainment to slower temporal modulations in speech (<10Hz). While studies of children with dyslexia have found atypical phase entrainment in the delta band (~2Hz), some studies of adults with developmental dyslexia have shown impaired entrainment in the low gamma band (~35-50Hz). Meanwhile, studies of neurotypical adults suggest asymmetric temporal sensitivity in auditory cortex, with preferential processing of slower modulations by right auditory cortex, and faster modulations processed bilaterally. Here we compared neural entrainment to slow (2Hz) versus faster (40Hz) amplitude-modulated noise using fNIRS to study possible hemispheric asymmetry effects in children with developmental dyslexia. We predicted atypical right hemisphere responding to 2Hz modulations for the children with dyslexia in comparison to control children, but equivalent responding to 40Hz modulations in both hemispheres. Analyses of HbO concentration revealed a right-lateralised region focused on the supra-marginal gyrus that was more active in children with dyslexia than in control children for 2Hz stimulation. We discuss possible links to linguistic prosodic processing, and interpret the data with respect to a neural 'temporal sampling' framework for conceptualizing the phonological deficits that characterise children with developmental dyslexia across languages. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

Idiopathic Non-traumatic Facial Nerve Palsy (Bell's Palsy) in Neonates; An Atypical Age and Management Dilemma.

PubMed

Khair, Abdulhafeez M; Ibrahim, Khalid

2018-01-01

Idiopathic (Bell's) palsy is the commonest cause of unilateral facial paralysis in children. Although being idiopathic by definition, possible infectious, inflammatory, and ischemic triggers have been suggested. Bell's palsy is thought to be responsible for up to three-fourths of cases of acute unilateral facial paralysis worldwide. The diagnosis has to be reached after other causes of acute peripheral palsy have been excluded. However, it is rarely described in neonates and young infants. Steroids may have some role in treatment, but antiviral therapies have doubtful evidence of benefit. Prognosis is good, though residual dysfunction is occasionally encountered. We report the case of a two-week-old neonate with no prior illnesses who presented with acute left facial palsy. Clinical findings and normal brain imaging were consistent with the diagnosis of Bell's palsy. The patient had a good response to oral steroids.

Idiopathic Non-traumatic Facial Nerve Palsy (Bell’s Palsy) in Neonates; An Atypical Age and Management Dilemma

PubMed Central

Khair, Abdulhafeez M.; Ibrahim, Khalid

2018-01-01

Idiopathic (Bell’s) palsy is the commonest cause of unilateral facial paralysis in children. Although being idiopathic by definition, possible infectious, inflammatory, and ischemic triggers have been suggested. Bell’s palsy is thought to be responsible for up to three-fourths of cases of acute unilateral facial paralysis worldwide. The diagnosis has to be reached after other causes of acute peripheral palsy have been excluded. However, it is rarely described in neonates and young infants. Steroids may have some role in treatment, but antiviral therapies have doubtful evidence of benefit. Prognosis is good, though residual dysfunction is occasionally encountered. We report the case of a two-week-old neonate with no prior illnesses who presented with acute left facial palsy. Clinical findings and normal brain imaging were consistent with the diagnosis of Bell’s palsy. The patient had a good response to oral steroids. PMID:29468002

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

PubMed Central

2013-01-01

Background Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature. The known genetic causes are point mutations or deletions of the cAMP-response element binding protein-BP (CREBBP) (50-60% of the cases) and of the homologous gene E1A-binding protein (EP300) (5%). Case presentation We describe, for the first time in literature, a RTS Caucasian girl, 14-year-old, with growth hormone (GH) deficiency, pituitary hypoplasia, Arnold Chiari malformation type 1, double syringomyelic cavity and a novel CREBBP mutation (c.3546insCC). Conclusion We hypothesize that CREBBP mutation we have identified in this patient could be responsible also for RTS atypical features as GH deficiency and pituitary hypoplasia. PMID:23432975

Petrogenesis of Permian A-type granitoids in the Cihai iron ore district, Eastern Tianshan, NW China: Constraints on the timing of iron mineralization and implications for a non-plume tectonic setting

NASA Astrophysics Data System (ADS)

Zheng, Jiahao; Mao, Jingwen; Chai, Fengmei; Yang, Fuquan

2016-09-01

The geochronology and geochemistry of granitoids in the Eastern Tianshan, NW China provide important constraints on the timing of iron mineralization, as well as in understanding evolution history of the southern Central Asian Orogenic Belt (CAOB). Here we present results from a detailed study on granitoid rocks from the Cihai iron ore district in the Beishan region, southern part of the Eastern Tianshan. The granitoid rocks are composed of granodiorite, quartz monzonite, granite, and monzonite. Zircon U-Pb analyses yielded the ages of 294.1 ± 2.2 Ma, 286.5 ± 0.7 Ma, 284.3 ± 3.3 Ma, and 265.6 ± 3.0 Ma, respectively, suggesting they were formed in Early-Middle Permian. Among these granitoid rocks, the ages of quartz monzonite and granite are close to the timing of iron mineralization ( 282 Ma), indicating they may provide a source of iron in the Cihai ore district. Geochemically, the granodiorite, granite, and quartz monzonite samples are characterized by high FeOt/(FeOt + MgO) and Ga/Al ratios (0.84-0.94 and 2.28-3.27, respectively), as well as high zircon saturation temperatures (781-908 °C), similar to those of typical A-type granitoids. Isotopically, they display consistently depleted Hf isotopic compositions (εHf(t) = + 1.18 to + 15.37). Geological, geochemical, and isotopic data suggest that the Cihai A-type granitoids were derived from melting of juvenile lower crust. Some Early Permian A-type granitoids were recently identified in the Tarim and Eastern Tianshan with the ages between 294 and 269 Ma. The A-type granitoids in the Eastern Tianshan formed earlier between 294-284 Ma and exhibit characteristics of A2 type granitoids, whereas the A-type granitoids in the Tarim formed later between 277-269 Ma and show A1 granitoids affinity. We suggest that the Permian Tarim mantle plume does not account for the formation of the A-type granitoids in the Eastern Tianshan area, and the Eastern Tianshan was in a non-plume tectonic setting during Early Permian time. A slab break-off event has been suggested as the possible tectonic mechanism that triggered the formation of Early Permian A-type granitoids in the Eastern Tianshan.

The role of cyclothymia in atypical depression: toward a data-based reconceptualization of the borderline-bipolar II connection.

PubMed

Perugi, Giulio; Toni, Cristina; Travierso, Maria Chiara; Akiskal, Hagop S

2003-01-01

Recent data, including our own, indicate significant overlap between atypical depression and bipolar II. Furthermore, the affective fluctuations of patients with these disorders are difficult to separate, on clinical grounds, from cyclothymic temperamental and borderline personality disorders. The present analyses are part of an ongoing Pisa-San Diego investigation to examine whether interpersonal sensitivity, mood reactivity and cyclothymic mood swings constitute a common diathesis underlying the atypical depression-bipolar II-borderline personality constructs. We examined in a semi-structured format 107 consecutive patients who met criteria for major depressive episode with DSM-IV atypical features. Patients were further evaluated on the basis of the Atypical Depression Diagnostic Scale (ADDS), the Hopkins Symptoms Check-list (HSCL-90), and the Hamilton Rating Scale for Depression (HRSD), coupled with its modified form for reverse vegetative features as well as Axis I and SCID-II evaluated Axis II comorbidity, and cyclothymic dispositions ('APA Review', American Psychiatric Press, Washington DC, 1992). Seventy-eight percent of atypical depressives met criteria for bipolar spectrum-principally bipolar II-disorder. Forty-five patients who met the criteria for cyclothymic temperament, compared with the 62 who did not, were indistinguishable on demographic, familial and clinical features, but were significantly higher in lifetime comorbidity for panic disorder with agoraphobia, alcohol abuse, bulimia nervosa, as well as borderline and dependent personality disorders. Cyclothymic atypical depressives also scored higher on the ADDS items of maximum reactivity of mood, interpersonal sensitivity, functional impairment, avoidance of relationships, other rejection avoidance, and on the interpersonal sensitivity, phobic anxiety, paranoid ideation and psychoticism of the HSCL-90 factors. The total number of cyclothymic traits was significantly correlated with 'maximum' reactivity of mood and interpersonal sensitivity. A significant correlation was also found between interpersonal sensitivity and 'usual' and 'maximum' reactivity of mood. Correlational study. Mood lability and interpersonal sensitivity traits appear to be related by a cyclothymic temperamental diathesis which, in turn, appears to underlie the complex pattern of anxiety, mood and impulsive disorders which atypical depressive, bipolar II and borderline patients display clinically. We submit that conceptualizing these constructs as being related will make patients in this realm more accessible to pharmacological and psychological interventions geared to their common temperamental attributes. More generally, we submit that the construct of borderline personality disorder is better covered by more conventional diagnostic entities.

Atypical neurophysiology underlying episodic and semantic memory in adults with autism spectrum disorder.

PubMed

Massand, Esha; Bowler, Dermot M

2015-02-01

Individuals with autism spectrum disorder (ASD) show atypicalities in episodic memory (Boucher et al. in Psychological Bulletin, 138 (3), 458-496, 2012). We asked participants to recall the colours of a set of studied line drawings (episodic judgement), or to recognize line drawings alone (semantic judgement). Cycowicz et al. (Journal of Experimental Child Psychology, 65, 171-237, 2001) found early (300 ms onset) posterior old-new event-related potential effects for semantic judgements in typically developing (TD) individuals, and occipitally focused negativity (800 ms onset) for episodic judgements. Our results replicated findings in TD individuals and demonstrate attenuated early old-new effects in ASD. Late posterior negativity was present in the ASD group, but was not specific to this time window. This non-specificity may contribute to the atypical episodic memory judgements characteristic of individuals with ASD.

Sensory chronic inflammatory demyelinating polyneuropathy: an under-recognized entity?

PubMed

Ayrignac, Xavier; Viala, Karine; Koutlidis, Régine Morizot; Taïeb, Guillaume; Stojkovic, Tanya; Musset, Lucille; Léger, Jean-Marc; Fournier, Emmanuel; Maisonobe, Thierry; Bouche, Pierre

2013-11-01

Sensory chronic inflammatory demyelinating polyneuropathy (CIDP) can be difficult to diagnose. We report 22 patients with chronic sensory polyneuropathy with ≥1 clinical sign atypical for chronic idiopathic axonal polyneuropathy (CIAP) but no electrodiagnostic criteria for CIDP. Clinical signs atypical for CIAP were: sensory ataxia (59%), generalized areflexia (36%), cranial nerve involvement (32%), rapid upper limb involvement (40%), and age at onset ≤55 years (50%). Additional features were: normal sensory nerve action potentials (36%), abnormal radial/normal sural pattern (23%), abnormal somatosensory evoked potentials (SSEPs) (100%), elevated cerebrospinal fluid (CSF) protein (73%), and demyelinating features in 5/7 nerve biopsies. Over 90% of patients responded to immunotherapy. We conclude that all patients had sensory CIDP. Sensory CIDP patients can be misdiagnosed as having CIAP. If atypical clinical/electrophysiologic features are present, we recommend performing SSEPs and CSF examination. Nerve biopsy should be restricted to disabled patients if other examinations are inconclusive. Copyright © 2013 Wiley Periodicals, Inc.

Telltale teeth: Idiopathic Hypergonadotropic Hypogonadism.

PubMed

Lele, G S; Lakade, L S

2014-01-01

The detection of any atypical extraoral or intraoral features warrants a thorough investigation, even if the patient is asymptomatic or unaware of these. At times, dental findings help in the diagnosis of an underlying systemic problem. These findings may or may not be associated with any syndrome. Thus, thorough examination and exhaustive investigations should be carried out for every atypical finding to ensure optimal oral and general health for the patient. This is a case report of seventeen year old male who presented with peculiar/atypical dentition which 'told the tale' and led to the diagnosis of underlying endocrinological problem about which the parents were totally unaware. The patient was short with central obesity and microcephaly. Intraorally, there was presence of thirty six microdonts. Consultation with pediatrician and endocrinologist, and thorough investigations confirmed the condition to be of 'Idiopathic Hypergonadotropic Hypogonadism'. The patient underwent not only oral rehabilitation, but also timely consultation and treatment from a pediatrician and an endocrinologist.

Sex, cheating, and disgust: enhanced source memory for trait information that violates gender stereotypes.

PubMed

Kroneisen, Meike; Bell, Raoul

2013-01-01

The present study examines memory for social-exchange-relevant information. In Experiment 1 male and female faces were shown together with behaviour descriptions of cheating, altruistic, and neutral behaviour. Previous results have led to the hypothesis that people preferentially remember schema-atypical information. Given the common gender stereotype that women are kinder and less egoistic than men, this atypicality account would predict that source memory (that is, memory for the type of context to which a face was associated) should be enhanced for female cheaters in comparison to male cheaters. The results of Experiment 1 confirmed this hypothesis. Experiment 2 reveals that source memory for female faces associated with disgusting behaviours is enhanced in comparison to male faces associated with disgusting behaviours. Thus the atypicality effect generalises beyond social-exchange-relevant information, a result which is inconsistent with the assumption that the findings can be ascribed to a highly specific cheater detection module.

A Case of First Branchial Cleft Fistula Presenting with an External Opening on the Root of the Helical Crus

PubMed Central

2018-01-01

Background First branchial cleft anomalies (FBCA) are rare clinical entities of the head and neck. Typically, the tract of the FBCA begins in the external auditory canal and ends in the postauricular or submandibular region. Case Presentation We present a case of a 23-year-old man who had a first branchial cleft fistula with atypical opening on the root of the helical crus. Complete excision of the tract, including the cuff of surrounding cartilage, was performed. Histopathology revealed a fistular tract lined with squamous epithelium. To our knowledge, this is the first case to be reported of type I FBCA with an opening on the root of the helical crus. The low incidence and varied presentation often result in misdiagnosis and inappropriate treatment. Conclusions In the patients with FBCA, careful recognition of atypical variants is essential for complete excision. PMID:29560006

Unique Case of Imperforate Hymen.

PubMed

Coppola, Lynn

2016-02-01

Imperforate hymen typically presents in adolescence with pain, hematocolpometra and primary amenorrhea. This case documents a previously unreported etiology for an atypical presentation with a history of recent menstruation. A female adolescent presented with symptoms of urinary retention and leg pain. She reported a history of irregular, painful menses. Clinical examination revealed a pelvic mass and imperforate hymen. Sonography was consistent with hematocolpometra. Before a planned hymenectomy, the patient began to pass dark blood through a fistulous opening in her vulva. Hymenectomy resulted in complete resolution of the pain and hematocolpometra. Identification of the fistulous tract explained the patient's history of menstrual bleeding despite an imperforate hymen. Spontaneous rupture of hematocolpometra through a fistulous tract to the vulva is a previously unreported atypical presentation of imperforate hymen in a "menstruating" adolescent with pain and a pelvic mass. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Database of Autotransplants for Breast Cancer.

DTIC Science & Technology

1998-11-01

atypical bacteria in Q.79, 81.) 301 Herpes Simplex (HSV1, HSV2) 100 Atypical bacteria, not otherwise specified 302 Herpes Zoster ( Chicken pox , Varicella...100 Atypical bacteria, not otherwise specified 302 Herpes Zoster ( Chicken pox , Varicella) 101 Coxiella 303 Cytomegalovirus (CMV) 102 Legionella 304...atypical bacteria in Q.329, 330.) 301 Herpes Simplex (HSV1, HSV2) 100 Atypical bacteria, not otherwise specified 302 Herpes Zoster ( Chicken pox , Vadcella

Efficacy and safety of haloperidol versus atypical antipsychotic medications in the treatment of delirium.

PubMed

Yoon, Hyung-Jun; Park, Kyoung-Min; Choi, Won-Jung; Choi, Soo-Hee; Park, Jin-Young; Kim, Jae-Jin; Seok, Jeong-Ho

2013-09-30

Most previous studies on the efficacy of antipsychotic medication for the treatment of delirium have reported that there is no significant difference between typical and atypical antipsychotic medications. It is known, however, that older age might be a predictor of poor response to antipsychotics in the treatment of delirium. The objective of this study was to compare the efficacy and safety of haloperidol versus three atypical antipsychotic medications (risperidone, olanzapine, and quetiapine) for the treatment of delirium with consideration of patient age. This study was a 6-day, prospective, comparative clinical observational study of haloperidol versus atypical antipsychotic medications (risperidone, olanzapine, and quetiapine) in patients with delirium at a tertiary level hospital. The subjects were referred to the consultation-liaison psychiatric service for management of delirium and were screened before enrollment in this study. A total of 80 subjects were assigned to receive either haloperidol (N = 23), risperidone (N = 21), olanzapine (N = 18), or quetiapine (N = 18). The efficacy was evaluated using the Korean version of the Delirium Rating Scale-Revised-98 (DRS-K) and the Korean version of the Mini Mental Status Examination (K-MMSE). The safety was evaluated by the Udvalg Kliniske Undersogelser side effect rating scale. There were no significant differences in mean DRS-K severity or K-MMSE scores among the four groups at baseline. In all groups, the DRS-K severity score decreased and the K-MMSE score increased significantly over the study period. However, there were no significant differences in the improvement of DRS-K or K-MMSE scores among the four groups. Similarly, cognitive and non-cognitive subscale DRS-K scores decreased regardless of the treatment group. The treatment response rate was lower in patients over 75 years old than in patients under 75 years old. Particularly, the response rate to olanzapine was poorer in the older age group. Fifteen subjects experienced a few adverse events, but there were no significant differences in adverse event profiles among the four groups. Haloperidol, risperidone, olanzapine, and quetiapine were equally efficacious and safe in the treatment of delirium. However, age is a factor that needs to be considered when making a choice of antipsychotic medication for the treatment of delirium. Clinical Research Information Service, Republic of Korea, (http://cris.nih.go.kr/cris/en/search/basic_search.jsp, Registered Trial No. KCT0000632).

The costs and benefits of self-monitoring for higher functioning children and adolescents with autism.

PubMed

Henderson, Heather A; Ono, Kim E; McMahon, Camilla M; Schwartz, Caley B; Usher, Lauren V; Mundy, Peter C

2015-02-01

The ability to regulate behaviors and emotions depends in part on the ability to flexibly monitor one's own progress toward a goal. Atypical patterns of response monitoring have been reported in individuals with autism spectrum disorders (ASD). In the current study we examined the error related negativity (ERN), an electrophysiological index of response monitoring, in relation to behavioral, social cognitive, and emotional presentation in higher functioning children (8-16 years) diagnosed with autism (HFA: N = 38) and an age- and IQ-matched sample of children without autism (COM: N = 36). Both HFA and COM participants displayed larger amplitude responses to error compared to correct response trials and these amplitudes did not differ by diagnostic group. For participants with HFA, larger ERN amplitudes were associated with more parent-reported autistic symptoms and more self-reported internalizing problems. However, across the full sample, larger ERN amplitudes were associated with better performance on theory of mind tasks. The results are discussed in terms of the utility of electrophysiological measures for understanding essential moderating processes that contribute to the spectrum of behavioral expression in the development of ASD.

Searching for Excellence in FE Colleges.

ERIC Educational Resources Information Center

Hughes, Maria; Smeaton, Barry

The factors responsible for the atypical success experienced by some English further education (FE) colleges were examined through case studies of eight FE colleges that have managed to extend their high-quality vocational education and training (VET) provision in recent years. The 8 colleges were selected from only 56 identified as having…

THE EDUCATIONAL DIAGNOSTIC AND PLANNING CENTER.

ERIC Educational Resources Information Center

STOREY, GEORGE

THIS REPORT BRIEFLY DESCRIBES THE EDUCATIONAL DIAGNOSTIC AND PLANNING CENTER FUNDED UNDER TITLE III OF THE 1965 ELEMENTARY AND SECONDARY EDUCATION ACT. THE CENTER IS RESPONSIBLE FOR THE COORDINATION OF DIAGNOSTIC AND EDUCATIONAL RESOURCES FOR UNDERACHIEVING OR OTHERWISE ATYPICAL PUPILS WHO ARE POTENTIAL DROPOUTS BECAUSE OF A PARTICULAR BEHAVIOR OR…

Acute generalized exanthematous pustulosis induced by hydroxychloroquine: a case with atypical clinical presentation.

PubMed

Duman, Hatice; Topal, Ilteris Oguz; Kocaturk, Emek; Cure, Kubra; Mansuroglu, Ilknur

2017-01-01

Acute generalized exanthematous pustulosis is a rare drug-induced eruption that is characterized by acute, nonfollicular sterile pustules on an erythematous and edematous base. The most frequently implicated drugs are beta-lactam antibiotics. Hydroxychloroquine has been widely used to treat dermatologic and rheumatologic diseases and has been reported as a rare cause of acute generalized exanthematous pustulosis. A 42-year-old female presented with pustular lesions on the skin surface with erythema, facial edema, and occasional atypical target-like lesions after 21 days of treatment with 200mg/day hydroxychloroquine for rheumatoid arthritis, diagnosed one month previously. We report a case with acute generalized exanthematous pustulosis induced by hydroxychloroquine and treated with dapsone and systemic corticosteroid.

Pigmentary characteristics and moles in relation to melanoma risk.

PubMed

Titus-Ernstoff, Linda; Perry, Ann E; Spencer, Steven K; Gibson, Jennifer J; Cole, Bernard F; Ernstoff, Marc S

2005-08-10

Although benign and atypical moles are considered key melanoma risk factors, previous studies of their influence were small and/or institution-based. We conducted a population-based case-control study in the state of New Hampshire. Individuals of ages 20-69 with an incident diagnosis of first primary cutaneous melanoma were ascertained through the New Hampshire State Cancer Registry. Controls were identified through New Hampshire driver's license lists and frequency-matched by age and gender to cases. We interviewed 423 eligible cases and 678 eligible controls. Host characteristics, including mole counts, were evaluated using logistic regression analyses. Our results showed that pigmentary factors, including eye color (OR = 1.57 for blue eyes compared to brown), hair color (OR = 1.85 for blonde/red hair color compared to brown/black), freckles before age 15 (OR = 2.39 for freckles present compared to absent) and sun sensitivity (OR = 2.25 for peeling sunburn followed by no tan or a light tan and 2.42 for sunburn followed by tan compared to tanning immediately), were related to melanoma risk; these associations held after adjustment for sun-related factors and for moles. In analyses confined to skin examination participants, the covariate-adjusted effects of benign and atypical moles were moderately strong. Compared to 0-4 benign moles, risk increased steadily for 5-14 moles (OR = 1.71), 15-24 moles (OR = 3.55) and >or= 25 moles (OR = 4.33). Risk also increased with the number of atypical moles; compared to none, the ORs for having 1, 2-3, or >or= 4 atypical moles were 2.08, 1.84 and 3.80, respectively. Although risk was highest for those with multiple benign and atypical moles, the interaction was not of statistical significance. Our findings, arising from the first population- and incidence-based study to evaluate atypical moles in relation to melanoma risk, confirm the importance of host susceptibility, represented by pigmentary factors and the tendency to develop benign or atypical moles, in the etiology of this disease. (c) 2005 Wiley-Liss, Inc.

Loss of anchorage primarily induces non-apoptotic cell death in a human mammary epithelial cell line under atypical focal adhesion kinase signaling.

PubMed

Ishikawa, F; Ushida, K; Mori, K; Shibanuma, M

2015-01-22

Anchorage dependence of cellular growth and survival prevents inappropriate cell growth or survival in ectopic environments, and serves as a potential barrier to metastasis of cancer cells. Therefore, obtaining a better understanding of anchorage-dependent responses in normal cells is the first step to understand and impede anchorage independence of growth and survival in cancer cells and finally to eradicate cancer cells during metastasis. Anoikis, a type of apoptosis specifically induced by lack of appropriate cell-extracellular matrix adhesion, has been established as the dominant response of normal epithelial cells to anchorage loss. For example, under detached conditions, the untransformed mammary epithelial cell (MEC) line MCF-10 A, which exhibits myoepithelial characteristics, underwent anoikis dependent on classical ERK signaling. On the other hand, recent studies have revealed a variety of phenotypes resulting in cell death modalities distinct from anoikis, such as autophagy, necrosis, and cornification, in detached epithelial cells. In the present study, we characterized detachment-induced cell death (DICD) in primary human MECs immortalized with hTERT ((Tert)HMECs), which are bipotent progenitor-like cells with a differentiating phenotype to luminal cells. In contrast to MCF-10 A cells, apoptosis was not observed in detached (Tert)HMECs; instead, non-apoptotic cell death marked by features of entosis, cornification, and necrosis was observed along with downregulation of focal adhesion kinase (FAK) signaling. Cell death was overcome by anchorage-independent activities of FAK but not PI3K/AKT, SRC, and MEK/ERK, suggesting critical roles of atypical FAK signaling pathways in the regulation of non-apoptotic cell death. Further analysis revealed an important role of TRAIL (tumor necrosis factor (TNF)-related apoptosis-inducing ligand) as a mediator of FAK signaling in regulation of entosis and necrosis and a role of p38 MAPK in the induction of necrosis. Overall, the present study highlighted outstanding cell subtype or differentiation stage specificity in cell death phenotypes induced upon anchorage loss in human MECs.

Clinical practice guidelines for the diagnosis and management of melanoma: melanomas that lack classical clinical features.

PubMed

Mar, Victoria J; Chamberlain, Alex J; Kelly, John W; Murray, William K; Thompson, John F

2017-10-16

A Cancer Council Australia multidisciplinary working group is currently revising and updating the 2008 evidence-based clinical practice guidelines for the management of cutaneous melanoma. While there have been many recent improvements in treatment options for metastatic melanoma, early diagnosis remains critical to reducing mortality from the disease. Improved awareness of the atypical presentations of this common malignancy is required to achieve this. A chapter of the new guidelines was therefore developed to aid recognition of atypical melanomas. Main recommendations: Because thick, life-threatening melanomas may lack the more classical ABCD (asymmetry, border irregularity, colour variegation, diameter > 6 mm) features of melanoma, a thorough history of the lesion with regard to change in morphology and growth over time is essential. Any lesion that is changing in morphology or growing over a period of more than one month should be excised or referred for prompt expert opinion. Changes in management as a result of the guidelines: These guidelines provide greater emphasis on improved recognition of the atypical presentations of melanoma, in particular nodular, desmoplastic and acral lentiginous subtypes, with particular awareness of hypomelanotic and amelanotic lesions.

Progressive Ischemic Stroke due to Thyroid Storm-Associated Cerebral Venous Thrombosis.

PubMed

Tanabe, Natsumi; Hiraoka, Eiji; Hoshino, Masataka; Deshpande, Gautam A; Sawada, Kana; Norisue, Yasuhiro; Tsukuda, Jumpei; Suzuki, Toshihiko

2017-02-23

BACKGROUND Cerebral venous thrombosis (CVT) is a rare but fatal complication of hyperthyroidism that is induced by the hypercoagulable state of thyrotoxicosis. Although it is frequently difficult to diagnose CVT promptly, it is important to consider it in the differential diagnosis when a hyperthyroid patient presents with atypical neurologic symptoms. CASE REPORT A 49-year-old Japanese female with unremarkable medical history came in with thyroid storm and multiple progressive ischemic stroke identified at another hospital. Treatment for thyroid storm with beta-blocker, glucocorticoid, and potassium iodide-iodine was started and MR venography was performed on hospital day 3 for further evaluation of her progressive ischemic stroke. The MRI showed CVT, and anticoagulation therapy, in addition to the anti-thyroid agents, was initiated. The patient's thyroid function was successfully stabilized by hospital day 10 and further progression of CVT was prevented. CONCLUSIONS Physicians should consider CVT when a patient presents with atypical course of stroke or with atypical MRI findings such as high intensity area in apparent diffusion coefficient (ADC) mapping. Not only is an early diagnosis and initiation of anticoagulation important, but identifying and treating the underlying disease is essential to avoid the progression of CVT.

An atypical case of late-onset systemic lupus erythematosus with systemic lymphadenopathy and severe autoimmune thrombocytopenia/neutropenia mimicking malignant lymphoma.

PubMed

Tamaki, Keita; Morishima, Satoko; Nakachi, Sawako; Kitamura, Sakiko; Uchibori, Sachie; Tomori, Shouhei; Hanashiro, Taeko; Shimabukuro, Natsuki; Tedokon, Iori; Morichika, Kazuho; Nishi, Yukiko; Tomoyose, Takeaki; Karube, Kennosuke; Fukushima, Takuya; Masuzaki, Hiroaki

2017-04-01

Here, we report a rare case of systemic lupus erythematosus (SLE) with conspicuous manifestation of hematological abnormalities. At onset, the 52-year-old male patient showed systemic lymphadenopathy and splenomegaly, severe autoimmune thrombocytopenia, and autoimmune neutropenia. Bone marrow examination and lymph node biopsy excluded the possibility of malignant lymphoma. Based on laboratory findings, he was finally diagnosed with combined autoimmune cytopenia coupled with SLE. Atypical clinical manifestations of SLE prompted us to explore the possibility of autoimmune lymphoproliferative syndrome (ALPS). However, we did not detect an increased number of CD4 - /CD8 - , CD3 + , TCRαβ + double-negative T cells in the circulating blood or dysfunctional T cell apoptosis in the Fas/Fas ligand pathway due to mutations in the FAS, FASLG or CASP10 genes. Combined autoimmune cytopenia is a rare clinical entity that in some cases co-occurs with other autoimmune diseases. Given that most SLE patients presenting atypical hematological manifestations at an early stage subsequently exhibit typical systemic manifestations, the present case raises the possibility that initial hematological abnormalities may be signs of unexpected SLE manifestations.

New developments in the treatment of optic neuritis

PubMed Central

Jenkins, Thomas M; Toosy, Ahmed T

2010-01-01

Acute optic neuritis (ON) has various etiologies. The most common presentation is inflammatory, demyelinating, idiopathic, or “typical” ON, which may be associated with multiple sclerosis. This must be differentiated from “atypical” causes of ON, which differ in their clinical presentation, natural history, management, and prognosis. Clinical “red flags” for an atypical cause of ON include absent or persistent pain, exudates and hemorrhages on fundoscopy, very severe, bilateral, or progressive visual loss, and failure to recover. In typical ON, steroids shorten the duration of the attack, but do not influence visual outcome. This is in contrast to atypical ON associated with conditions such as sarcoidosis and neuromyelitis optica, which require aggressive immunosuppression and sometimes plasma exchange. The visual prognosis of typical ON is generally good. The prognosis in atypical ON is more variable. New developments aimed at designing better treatments for patients who fail to recover are discussed, focusing on recent research elucidating mechanisms of damage and recovery in ON. Future therapeutic directions may include enhancing repair processes, such as remyelination or adaptive neuroplasticity, or alternative methods of immunomodulation. Pilot studies investigating the safety and proof-of-principle of stem cell treatment are currently underway. PMID:28539768

Nonlesional atypical mesial temporal epilepsy

PubMed Central

Alexopoulos, Andreas V.; Busch, Robyn M.; Wehner, Tim; Nair, Dileep; Bingaman, William E.; Najm, Imad M.

2013-01-01

Objective: Misleading manifestations of common epilepsy syndromes might account for some epilepsy surgery failures, thus we sought to characterize patients with difficult to diagnose (atypical) mesial temporal lobe epilepsy (mTLE). Methods: We retrospectively reviewed our surgical database over 12 years to identify patients who underwent a standard anterior temporal lobectomy after undergoing intracranial EEG (ICEEG) evaluation with a combination of depth and subdural electrodes. We carefully studied electroclinical manifestations, neuroimaging data, neuropsychological findings, and indications for ICEEG. Results: Of 835 patients who underwent anterior temporal lobectomy, 55 were investigated with ICEEG. Ten of these had atypical mTLE features and were not considered to have mTLE preoperatively. All of them had Engel class I outcome for 3 to 7 years (median 3.85). Five reported uncommon auras, and 3 had no auras. Scalp-EEG and nuclear imaging studies failed to provide adequate localization. None had MRI evidence of hippocampal sclerosis. However, ICEEG demonstrated exclusive mesial temporal seizure onset in all patients. Clues suggesting the possibility of mTLE were typical auras when present, anterior temporal epileptiform discharges or ictal patterns, small hippocampi, asymmetrical or ipsilateral temporal hypometabolism on PET, anterior temporal hyperperfusion on ictal SPECT, and asymmetry of memory scores. Histopathology revealed hippocampal sclerosis in 6 patients and gliosis in 2. Conclusions: Atypical electroclinical presentation may be deceptive in some patients with mTLE. We emphasize the importance of searching for typical mTLE features to guide ICEEG study of mesial temporal structures in such patients, who may otherwise mistakenly undergo extramesial temporal resections or be denied surgery. PMID:24174582

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.

PubMed

Volk, Timo; Pannicke, Ulrich; Reisli, Ismail; Bulashevska, Alla; Ritter, Julia; Björkman, Andrea; Schäffer, Alejandro A; Fliegauf, Manfred; Sayar, Esra H; Salzer, Ulrich; Fisch, Paul; Pfeifer, Dietmar; Di Virgilio, Michela; Cao, Hongzhi; Yang, Fang; Zimmermann, Karin; Keles, Sevgi; Caliskaner, Zafer; Güner, S Ükrü; Schindler, Detlev; Hammarström, Lennart; Rizzi, Marta; Hummel, Michael; Pan-Hammarström, Qiang; Schwarz, Klaus; Grimbacher, Bodo

2015-12-20

Null mutations in genes involved in V(D)J recombination cause a block in B- and T-cell development, clinically presenting as severe combined immunodeficiency (SCID). Hypomorphic mutations in the non-homologous end-joining gene DCLRE1C (encoding ARTEMIS) have been described to cause atypical SCID, Omenn syndrome, Hyper IgM syndrome and inflammatory bowel disease-all with severely impaired T-cell immunity. By whole-exome sequencing, we investigated the molecular defect in a consanguineous family with three children clinically diagnosed with antibody deficiency. We identified perfectly segregating homozygous variants in DCLRE1C in three index patients with recurrent respiratory tract infections, very low B-cell numbers and serum IgA levels. In patients, decreased colony survival after irradiation, impaired proliferative response and reduced counts of naïve T cells were observed in addition to a restricted T-cell receptor repertoire, increased palindromic nucleotides in the complementarity determining regions 3 and long stretches of microhomology at switch junctions. Defective V(D)J recombination was complemented by wild-type ARTEMIS protein in vitro. Subsequently, homozygous or compound heterozygous DCLRE1C mutations were identified in nine patients from the same geographic region. We demonstrate that DCLRE1C mutations can cause a phenotype presenting as only antibody deficiency. This novel association broadens the clinical spectrum associated with ARTEMIS mutations. Clinicians should consider the possibility that an immunodeficiency with a clinically mild initial presentation could be a combined immunodeficiency, so as to provide appropriate care for affected patients. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Brief Report: Atypical expression of distress during the separation phase of the strange situation procedure in infant siblings at high risk for ASD.

PubMed

Esposito, Gianluca; Del Carmen Rostagno, Maria; Venuti, Paola; Haltigan, John D; Messinger, Daniel S

2014-04-01

Previous studies have provided preliminary evidence that disruptions in cry acoustics may be part of an atypical vocal signature of autism early in life. We examined the acoustic characteristics of cries extracted from the separation phase of the strange situation procedure in a sample of toddler of younger siblings of a child with autism spectrum disorder-autism spectrum disorders (ASD) (high risk, HR) and a low risk (LR) group. Cry samples derived from vocal recordings of 15-month-old HR (n = 13) and LR infants (n = 14) were subjected to acoustic analyses. HR toddlers, compared to those with LR, produced cries that were shorter and had a higher fundamental frequency (F0). Three HR toddlers later classified with an ASD at 36 months (autistic disorder in all cases) produced cries that had among the highest F0 and shortest durations. Taken together these results indicate that toddlers at high risk for ASD (and those with an ASD) express atypical patterns of distress in response a social stressor. Implications for early diagnosis and parenting are discussed.

Interventions for tic disorders: An overview of systematic reviews and meta analyses.

PubMed

Yang, Chunsong; Hao, Zilong; Zhu, Cairong; Guo, Qin; Mu, Dezhi; Zhang, Lingli

2016-04-01

We conducted a comprehensive search and the overview included 22 systematic reviews (SRs) for treating tic disorders (TDs). Three SRs indicated typical antipsychotics (i.e., haloperidol, pimozide) were efficacious in the reduction of tic severity compared with placebo but with poor tolerability. Six SRs assessed the efficacy of atypical antipsychotics and indicated that atypical antipsychotics (i.e., risperidone, aripiprazole) could significantly improved tic symptoms compared with placebo or typical antipsychotics with less AEs. Four SRs indicated alpha adrenergic agonists (i.e., clonidine, guanfacine) could improve tic symptoms. Two SRs assessed the efficacy of antiepileptic drugs and indicated topiramate was a promising therapy. Six SRs evaluated the efficacy of behavior therapy and showed habit reversal therapy (HRT) and exposure and response prevention (ERP) were effective. One SR evaluated the efficacy deep brain stimulation (DBS) and indicated DBS is a promising treatment option for severe cases of TS. In conclusion, RCTs directly comparing different pharmacological treatment options are scarce. In practice, typical and atypical antipsychotics are often considered firstly while other pharmacological medications are suggested as alternatives in the case of treatment failure or contradictory outcomes. Behavioral therapies can be used either alone or in combination with medication. Copyright © 2016. Published by Elsevier Ltd.

Physiological reactivity to faces via live and video-mediated communication in typical and atypical development.

PubMed

Riby, Deborah M; Whittle, Lisa; Doherty-Sneddon, Gwyneth

2012-01-01

The human face is a powerful elicitor of emotion, which induces autonomic nervous system responses. In this study, we explored physiological arousal and reactivity to affective facial displays shown in person and through video-mediated communication. We compared measures of physiological arousal and reactivity in typically developing individuals and those with the developmental disorders Williams syndrome (WS) and autism spectrum disorder (ASD). Participants attended to facial displays of happy, sad, and neutral expressions via live and video-mediated communication. Skin conductance level (SCL) indicated that live faces, but not video-mediated faces, increased arousal, especially for typically developing individuals and those with WS. There was less increase of SCL, and physiological reactivity was comparable for live and video-mediated faces in ASD. In typical development and WS, physiological reactivity was greater for live than for video-mediated communication. Individuals with WS showed lower SCL than typically developing individuals, suggesting possible hypoarousal in this group, even though they showed an increase in arousal for faces. The results are discussed in terms of the use of video-mediated communication with typically and atypically developing individuals and atypicalities of physiological arousal across neurodevelopmental disorder groups.

High Prevalence of Mycoplasma pneumoniae and Chlamydia pneumoniae in Children with Acute Respiratory Infections from Lima, Peru

PubMed Central

del Valle-Mendoza, Juana; Orellana-Peralta, Fiorella; Marcelo-Rodríguez, Alvaro; Verne, Eduardo; Esquivel-Vizcarra, Mónica; Silva-Caso, Wilmer; Aguilar-Luis, Miguel Angel; Weilg, Pablo; Casabona-Oré, Verónica; Ugarte, Claudia; del Valle, Luis J.

2017-01-01

Background Mycoplasma pneumoniae and Chlamydia pneumoniae are atypical pathogens responsible for pneumonia and a leading cause of morbidity and mortality in low income countries. The study objective is to determine the prevalence of this pathogens in Peruvian children with acute respiratory infections. Methods A consecutive cross-sectional study was conducted in Lima, Peru from May 2009 to September 2010. A total of 675 children admitted with clinical diagnoses of acute respiratory infections were tested for Mycoplasma pneumoniae and Chlamydia pneumoniae detection by polymerase chain reaction (PCR), and clinical symptoms were registered by the attending physician. Results Mycoplasma pneumonia was detected in 25.19% (170/675) of nasopharyngeal samples and Chlamydia pneumonia in 10.52% (71/675). The most common symptoms in patients with these atypical pathogens were rhinorrhea, cough and fever. A higher prevalence of Mycoplasma pneumoniae cases were registered in summer, between December 2009 and March 2010. Conclusions Mycoplasma pneumoniae and Chlamydia pneumonia are a significant cause of morbidity in Peruvian children with acute respiratory infections (ARI). Further studies should evaluate the use of reliable techniques such as PCR in Peru in order to avoid underdiagnoses of these atypical pathogens. PMID:28129377

Superior orientation discrimination and increased peak gamma frequency in autism spectrum conditions.

PubMed

Dickinson, Abigail; Bruyns-Haylett, Michael; Smith, Richard; Jones, Myles; Milne, Elizabeth

2016-04-01

While perception is recognized as being atypical in individuals with autism spectrum conditions (ASC), the underlying mechanisms for such atypicality are unclear. Here we test the hypothesis that individuals with ASC will show enhanced orientation discrimination compared with neurotypical observers. This prediction is based both on anecdotal report of superior discriminatory skills in ASC and also on evidence in the auditory domain that some individuals with ASC have superior pitch discrimination. In order to establish whether atypical perception might be mediated by an imbalance in the ratio of neural excitation and inhibition (E:I ratio), we also measured peak gamma frequency, which provides an indication of neural inhibition levels. Using a rigorous thresholding method, we found that orientation discrimination thresholds for obliquely oriented stimuli were significantly lower in participants with ASC. Using EEG to measure the visually induced gamma band response, we also found that peak gamma frequency was higher in participants with ASC, relative to a well-matched control group. These novel results suggest that neural inhibition may be increased in the occipital cortex of individuals with ASC. Implications for existing theories of an imbalance in the E:I ratio of ASC are discussed. (c) 2016 APA, all rights reserved).

Correlation between plasma homovanillic acid levels and the response to atypical antipsychotics in male patients with schizophrenia.

PubMed

Kaneda, Yasuhiro; Kawamura, Ichiro; Ohmori, Tetsuro

2005-01-01

The authors investigated the effects of atypical antipsychotic drugs-olanzapine, perospirone, and quetiapine-on plasma homovanillic acid (pHVA) in male patients with chronic schizophrenia. In this prospective, open-label study, the subjects were 30 inpatients who were diagnosed according to the Diagnostic and Statistical Manual of Mental Disorders, 4th edition, criteria for schizophrenia. The authors switched patients from typical antipsychotic drugs to olanzapine, perospirone, or quetiapine. Each patient gave informed consent for the research. pHVA was assessed before and after switching medications. After the switch, the authors found a significant improvement in psychotic symptoms, nonsignificant improvement in extrapyramidal symptoms, and a nonsignificant reduction in pHVA. In addition, the baseline pHVA correlated positively with the score changes from baseline in the Brief Psychiatric Rating Scale (BPRS) total, positive, and negative symptoms in the group with a whole sample and in the olanzapine-treated group, and with the score changes in the BPRS total and positive symptoms in the quetiapine-treated group. Our findings indicated that the preswitching pHVA levels could be used to predict changes in the psychotic symptoms of male patients with chronic schizophrenia when switching to atypical antipsychotic drugs.

Atypical Initial Presentation of Painful Muscle Cramps in a Patient with Amyotrophic Lateral Sclerosis: A Case Report and Brief Review of the Literature.

PubMed

Kuzel, Aaron R; Lodhi, Muhammad Uzair; Syed, Intekhab Askari; Rahim, Mustafa

2017-11-10

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized clinically by progressive muscle weakness that can occur proximally or distally in either the upper or lower extremities. It includes both upper motor neuron signs (spasticity, hyperreflexia, clonus, and Babinski sign) and lower motor neuron signs (atrophy, weakness, and muscle fasciculation). Initial presentation of progressively painful muscle cramps should lead the physician to screen for other signs of amyotrophic lateral sclerosis. We report the case of a 51-year-old male, who presented with dull muscle cramps in the right upper shoulder and arm. After a careful history and physical exam, it was found that patient had both upper and lower motor neuron signs; therefore, a diagnosis of amyotrophic lateral sclerosis was made. Amyotrophic lateral sclerosis should strongly be considered in the differential diagnosis of patients presenting with an atypical initial presentation of progressively painful muscle cramps.

Subacute sclerosing panencephalitis (SSPE) presenting as acute disseminated encephalomyelitis in a child.

PubMed

Goraya, Jatinder; Marks, Harold; Khurana, Divya; Legido, Agustin; Melvin, Joseph

2009-07-01

Subacute sclerosing panencephalitis (SSPE) typically presents with progressive mental deterioration, behavioral changes, and myoclonic jerks. Atypical presentations are not unknown and may result in diagnostic delays. A 9-year-old girl presented with poor balance and ataxia following an episode of upper respiratory tract infection. Neurological examination revealed mild hemiparesis and ataxia. Brain magnetic resonance imaging revealed scattered areas of T2 and fluid-attenuated inversion recovery hyperintensities in the white matter consistent with acute disseminated encephalomyelitis. Despite treatment with intravenous methylprednisolone, intravenous immunoglobulins, and plasmapheresis, progressive neurological worsening occurred. Later during the course of her illness, subacute sclerosing panencephalitis was suspected from the appearance of burst-suppression pattern on electroencephalogram, and the diagnosis confirmed by elevated titers of measles antibodies in cerebrospinal fluid. Physicians taking care of children need to be aware of atypical presentations of subacute sclerosing panencephalitis and must have a high index of suspicion to prevent diagnostic delays and avoid unnecessary diagnostic and therapeutic interventions.

Nonoperative management of atypical endometrial hyperplasia and grade 1 endometrial cancer with the levonorgestrel intrauterine device in medically ill post-menopausal women.

PubMed

Baker, William D; Pierce, Stuart R; Mills, Anne M; Gehrig, Paola A; Duska, Linda R

2017-07-01

To assess the endometrial response rates to treatment with the levonorgestrel intrauterine device in post-menopausal women with atypical hyperplasia/endometrial intraepithelial neoplasia and grade 1 endometrioid (AH/EC) endometrial carcinoma who are not surgical candidates. Chart review was undertaken of patients with AH/EC who underwent levonorgestrel intrauterine device insertion by a gynecologic oncologist within two academic health systems between 2002 and 2013. When available, tissue blocks were evaluated with immunohistochemical staining for progesterone receptor expression. A total of 41 patients received treatment for AH/EC with the levonorgestrel intrauterine device. Follow up sufficient to assess response occurred in 36 women (88%). Complete response was documented in 18 of 36 women (50%), no response in 8 patients (22%), partial response in 3 women (8%) and progression of disease in 7 patients (19%). Four of 18 patients with complete response (22%) later experienced relapse of hyperplasia or cancer. Four patients (10%) died during the study period: none had evidence of metastatic disease and 1 of the 4 woman died of perioperative complications following hysterectomy for stage I disease. Patients responding to treatment had significantly lower progesterone receptor expression on post-treatment biopsies. Intrauterine levonorgestrel is a viable treatment option for post-menopausal women with AH/EC who are poor candidates for standard surgical management. The response rate in this series is similar to published reports in premenopausal patients and includes cases of disease recurrence following conversion to benign endometrium. Copyright © 2017 Elsevier Inc. All rights reserved.

Increased numbers of CD38 molecules on bright CD8+ T lymphocytes in infectious mononucleosis caused by Epstein–Barr virus infection

PubMed Central

ŽIDOVEC LEPEJ, S; VINCE, A; ÐAKOVIĆ RODE, O; REMENAR, A; JEREN, T

2003-01-01

The aim of this study was to quantify the expression of CD38 on CD8+ T lymphocytes of patients with infectious mononucleosis (IM) caused by Epstein–Barr virus (EBV) and cytomegalovirus (CMV). CD38 quantification technique chosen for this study was based on the enumeration of CD38 antibody binding sites in comparison to the quantification standards rather than determining relative fluorescence, which is difficult to standardize. The study enrolled 19 patients with typical clinical and laboratory parameters compatible with EBV-induced IM as well as 10 patients with atypical clinical presentation of this disease. Furthermore, CD38 expression was analysed in a group of 13 patients with IM caused by CMV infection. CD38 quantification was performed within 6 days of the presentation of symptoms. All three groups of IM patients showed a statistically significant increase in the number of anti-CD38 antibody binding sites (which correspond to the number of CD38 molecules) on bright CD8+ T lymphocytes compared to healthy controls. The numbers of CD38 molecules expressed on CD8+ T lymphocytes did not differ significantly between IM patients with typical and atypical clinical presentation of the disease. Patients with CMV-induced IM had significantly lower numbers of CD38 molecules expressed on CD8+ T lymphocytes. Therefore, we conclude that CD38 quantification could be helpful in differential diagnostics of IM cases with atypical clinical presentation. PMID:12930365

Bisphosphonates and atypical subtrochanteric fractures of the femur

PubMed Central

Kharwadkar, N.; Mayne, B.; Lawrence, J. E.

2017-01-01

Objectives Bisphosphonates are widely used as first-line treatment for primary and secondary prevention of fragility fractures. Whilst they have proved effective in this role, there is growing concern over their long-term use, with much evidence linking bisphosphonate-related suppression of bone remodelling to an increased risk of atypical subtrochanteric fractures of the femur (AFFs). The objective of this article is to review this evidence, while presenting the current available strategies for the management of AFFs. Methods We present an evaluation of current literature relating to the pathogenesis and treatment of AFFs in the context of bisphosphonate use. Results Six broad themes relating to the pathogenesis and management of bisphosphonate-related AFFs are presented. The key themes in fracture pathogenesis are: bone microdamage accumulation; altered bone mineralisation and altered collagen formation. The key themes in fracture management are: medical therapy and surgical therapy. In addition, primary prevention strategies for AFFs are discussed. Conclusions This article presents current knowledge about the relationship between bisphosphonates and the development of AFFs, and highlights key areas for future research. In particular, studies aimed at identifying at-risk subpopulations and organising surveillance for those on long-term therapy will be crucial in both increasing our understanding of the condition, and improving population outcomes. Cite this article: N. Kharwadkar, B. Mayne, J. E. Lawrence, V. Khanduja. Bisphosphonates and atypical subtrochanteric fractures of the femur. Bone Joint Res 2017;6:144–153. DOI: 10.1302/2046-3758.63.BJR-2016-0125.R1. PMID:28288986

A cannonball through the chest: disseminated tuberculosis, threatening the aortic arch.

PubMed

Feldman, Henry J; Somai, Melek; Dweck, Ezra

2014-01-01

In 2012 the World Health Organization reported 8.7 million new cases of Tuberculosis worldwide, causing 1.4 million deaths (1). Despite modern drug therapy, this disease continues to present in novel ways and mimic other diseases causing misdiagnosis. We report this case to educate on the reason to suspect atypical Tuberculosis presentation, even if a common disease is diagnosed, when Tuberculosis remains in the differential. We also demonstrate that with globalization and patient moving between countries, that these presentations can occur in locations, where such atypical manifestations are very uncommon. We report on a 48 year old man with one month of malaise, fever, productive cough, night sweats, chills, pleuritic chest pain, weight loss and progressive non-painful swelling on his thorax. Initial diagnoses of interstitial pneumonia and a thoracic subcutaneous abscess were made. Needle drainage was attempted, with thick purulent material returned. When the sternum was not struck with the needle, a thoracic computed tomography scan was performed. A milliary pattern was noted in the lungs, with a large abscess present anteriorly, completely obliterating the manubrium, approaching the aorta with distant lesions. Subsequent analysis showed the material to be pan-sensitive M. Tuberculosis. The issue that this case raises is that when tuberculosi is in the differential, even common diseases may in fact be atypical manifestations of tuberculosis. In addition, when a shallow surgical procedure is going to be performed on the thoracic soft tissues, particularly when tuberculosis is suspected, imaging of the thorax should be obtained.

A computer-based measure of resultant achievement motivation.

PubMed

Blankenship, V

1987-08-01

Three experiments were conducted to develop a computer-based measure of individual differences in resultant achievement motivation (RAM) on the basis of level-of-aspiration, achievement motivation, and dynamics-of-action theories. In Experiment 1, the number of atypical shifts and greater responsiveness to incentives on 21 trials with choices among easy, intermediate, and difficult levels of an achievement-oriented game were positively correlated and were found to differentiate the 62 subjects (31 men, 31 women) on the amount of time they spent at a nonachievement task (watching a color design) 1 week later. In Experiment 2, test-retest reliability was established with the use of 67 subjects (15 men, 52 women). Point and no-point trials were offered in blocks, with point trials first for half the subjects and no-point trials first for the other half. Reliability was higher for the atypical-shift measure than for the incentive-responsiveness measure and was higher when points were offered first. In Experiment 3, computer anxiety was manipulated by creating a simulated computer breakdown in the experimental condition. Fifty-nine subjects (13 men, 46 women) were randomly assigned to the experimental condition or to one of two control conditions (an interruption condition and a no-interruption condition). Subjects with low RAM, as demonstrated by a low number of typical shifts, took longer to choose the achievement-oriented task, as predicted by the dynamics-of-action theory. The difference was evident in all conditions and most striking in the computer-breakdown condition. A change of focus from atypical to typical shifts is discussed.

Genetic predictors of antipsychotic response to lurasidone identified in a genome wide association study and by schizophrenia risk genes.

PubMed

Li, Jiang; Yoshikawa, Akane; Brennan, Mark D; Ramsey, Timothy L; Meltzer, Herbert Y

2018-02-01

Biomarkers which predict response to atypical antipsychotic drugs (AAPDs) increases their benefit/risk ratio. We sought to identify common variants in genes which predict response to lurasidone, an AAPD, by associating genome-wide association study (GWAS) data and changes (Δ) in Positive And Negative Syndrome Scale (PANSS) scores from two 6-week randomized, placebo-controlled trials of lurasidone in schizophrenia (SCZ) patients. We also included SCZ risk SNPs identified by the Psychiatric Genomics Consortium using a polygenic risk analysis. The top genomic loci, with uncorrected p<10 -4 , include: 1) synaptic adhesion (PTPRD, LRRC4C, NRXN1, ILIRAPL1, SLITRK1) and scaffolding (MAGI1, MAGI2, NBEA) genes, both essential for synaptic function; 2) other synaptic plasticity-related genes (NRG1/3 and KALRN); 3) the neuron-specific RNA splicing regulator, RBFOX1; and 4) ion channel genes, e.g. KCNA10, KCNAB1, KCNK9 and CACNA2D3). Some genes predicted response for patients with both European and African Ancestries. We replicated some SNPs reported to predict response to other atypical APDs in other GWAS. Although none of the biomarkers reached genome-wide significance, many of the genes and associated pathways have previously been linked to SCZ. Two polygenic modeling approaches, GCTA-GREML and PLINK-Polygenic Risk Score, demonstrated that some risk genes related to neurodevelopment, synaptic biology, immune response, and histones, also contributed to prediction of response. The top hits predicting response to lurasidone did not predict improvement with placebo. This is the first evidence from clinical trials that SCZ risk SNPs are related to clinical response to an AAPD. These results need to be replicated in an independent sample. Copyright © 2017. Published by Elsevier B.V.

Exploring the cognitive features in children with autism spectrum disorder, their co-twins, and typically developing children within a population-based sample.

PubMed

Brunsdon, Victoria E A; Colvert, Emma; Ames, Catherine; Garnett, Tracy; Gillan, Nicola; Hallett, Victoria; Lietz, Stephanie; Woodhouse, Emma; Bolton, Patrick; Happé, Francesca

2015-08-01

The behavioural symptoms of autism spectrum disorder (ASD) are thought to reflect underlying cognitive deficits/differences. The findings in the literature are somewhat mixed regarding the cognitive features of ASD. This study attempted to address this issue by investigating a range of cognitive deficits and the prevalence of multiple cognitive atypicalities in a large population-based sample comprising children with ASD, their unaffected co-twins, and typically developing comparison children. Participants included families from the Twins Early Development Study (TEDS) where one or both children met diagnostic criteria for ASD. Overall, 181 adolescents with a diagnosis of ASD and 73 unaffected co-twins were included, plus an additional 160 comparison control participants. An extensive cognitive battery was administered to measure IQ, central coherence, executive function, and theory of mind ability. Differences between groups (ASD, co-twin, control) are reported on tasks assessing theory of mind, executive function, and central coherence. The ASD group performed atypically in significantly more cognitive tasks than the unaffected co-twin and control groups. Nearly a third of the ASD group presented with multiple cognitive atypicalities. Multiple cognitive atypicalities appear to be a characteristic, but not universal feature, of ASD. Further work is needed to investigate whether specific cognitive atypicalities, either alone or together, are related to specific behaviours characteristic of ASD. © 2014 The Authors. Journal of Child Psychology and Psychiatry published by John Wiley & Sons Ltd on behalf of Association for Child and Adolescent Mental Health.

Sex, Sexual Orientation, Gender Atypicality, and Indicators of Depression and Anxiety in Childhood and Adulthood.

PubMed

Petterson, Lanna J; VanderLaan, Doug P; Vasey, Paul L

2017-07-01

The current study evaluated the possibility that greater negative mental health outcomes reported among gay, lesbian, and gender-atypical individuals, compared to gender-typical individuals, are present in childhood and persist into adulthood. Sex and sexual orientation differences in self-reported adulthood and recalled childhood indicators of depression and anxiety and their association with current and retrospectively reported gender (a)typicality were examined in a non-clinically recruited community sample of Canadian heterosexual men (n = 98), heterosexual women (n = 142), gay men (n = 289), and lesbian women (n = 69). Indicators of depression and anxiety were constructed based on diagnostic criteria for generalized anxiety disorder, major depression, agoraphobia, social anxiety disorder, panic disorder, obsessive-compulsive disorder, and specific phobias. Factor reduction analyses yielded three factors: (1) indicators of childhood separation anxiety, (2) indicators of childhood depression and anxiety, and (3) indicators of adulthood depression and anxiety. Lesbian women scored higher on childhood separation anxiety than all other groups. Heterosexual men scored lower on indicators of childhood separation anxiety than gay men and lower on indicators of childhood and adulthood depression and anxiety than all other groups. No other significant group differences were observed. Correlational analysis suggested that for men, but not for women, gender-atypical behavior was associated with negative mental health. The current study indicated that childhood should be considered a critical time period during which the noted sexual orientation-related mental health discrepancies manifest and that childhood gender atypicality is a key factor for understanding the emergence of such discrepancies.

A retrospective study of dogs with atypical hypoadrenocorticism: a diagnostic cut-off or continuum?

PubMed Central

Furrow, E.; Merkel, L. K.; Armstrong, P. J.

2017-01-01

Objectives To describe the clinicopathologic findings and outcome in dogs with atypical hypoadrenocorticism (Group 1) and dogs with suspected atypical hypoadrenocorticism whose post-adrenocorticotropic hormone stimulation cortisol concentrations were greater than 55 nmol/L but below the laboratory reference interval (Group 2). Methods Medical records were searched to identify dogs diagnosed with hypoadrenocorticism between January 2004 and June 2014. Dogs were excluded if their Na:K ratio was less than 27 or if they had received prior therapy that could interfere with adrenocorticotropic hormone stimulation testing. Results Forty dogs were included in Group 1 and nine dogs in Group 2. In Group 1, the most common biochemical abnormalities were hypoalbuminaemia (87%) and hypocholesterolaemia (76%). Of 35 dogs in Group 1 with follow-up biochemistry results, five (14%) developed electrolyte abnormalities at 2 to 51 months post diagnosis. Of seven dogs in Group 2 with follow-up, glucocorticoid therapy was discontinued in two dogs without return of clinical signs, four dogs were subsequently diagnosed with inflammatory bowel disease and one dog continued to have clinical signs despite glucocorticoid treatment. Clinical Significance Dogs with gastrointestinal signs and hypoalbuminaemia and, or, hypocholesterolaemia should be evaluated for atypical hypoadrenocorticism. Follow-up electrolyte monitoring is recommended because some will develop electrolyte abnormalities. Although dogs in Group 2 had a clinical presentation compatible with atypical hypoadrenocorticism, the diagnosis appears unlikely based on review of follow-up data. Dogs with equivocal adrenocorticotropic hormone stimulation results should be evaluated for other underlying diseases such as inflammatory bowel disease. The use of endogenous adrenocorticotropic hormone measurements in these dogs warrants investigation. PMID:28247992

Evaluating average and atypical response in radiation effects simulations

NASA Astrophysics Data System (ADS)

Weller, R. A.; Sternberg, A. L.; Massengill, L. W.; Schrimpf, R. D.; Fleetwood, D. M.

2003-12-01

We examine the limits of performing single-event simulations using pre-averaged radiation events. Geant4 simulations show the necessity, for future devices, to supplement current methods with ensemble averaging of device-level responses to physically realistic radiation events. Initial Monte Carlo simulations have generated a significant number of extremal events in local energy deposition. These simulations strongly suggest that proton strikes of sufficient energy, even those that initiate purely electronic interactions, can initiate device response capable in principle of producing single event upset or microdose damage in highly scaled devices.

Discrepant epidemiological patterns between classical and atypical scrapie in sheep flocks under French TSE control measures.

PubMed

Fediaevsky, Alexandre; Gasqui, Patrick; Calavas, Didier; Ducrot, Christian

2010-09-01

The occurrence of secondary cases of atypical and classical scrapie was examined in 340 outbreaks of atypical and 296 of classical sheep scrapie detected in France during active surveillance programmes between 2002 and 2007. The prevalence of atypical scrapie in these flocks was 0.05% under selective culling and 0.07% under intensified monitoring i.e. not significantly different from that detected during active surveillance of the general population (P>0.5), whereas these figures were much higher for classical scrapie (3.67% and 0.25%, respectively, P<10(-5)). In addition the number of atypical scrapie cases per outbreak did not indicate clustering. The results suggest that atypical scrapie occurs spontaneously or is not particularly contagious, and that the control measures in force allowed appropriate control of classical scrapie but were not more efficient than active surveillance in detecting cases of atypical scrapie. Copyright 2009 Elsevier Ltd. All rights reserved.

Cytological analysis of atypical squamous epithelial cells of undetermined significance using the world wide web.

PubMed

Washiya, Kiyotada; Abe, Ichinosuke; Ambo, Junichi; Iwai, Muneo; Okusawa, Estuko; Asanuma, Kyousuke; Watanabe, Jun

2011-01-01

The low-level consistency of the cytodiagnosis of uterine cervical atypical squamous epithelial cells of undetermined significance (ASC-US) employing the Bethesda System has been reported, suggesting the necessity of a wide survey. We presented cases judged as ASC-US on the Web and analyzed the voting results to investigate ASC-US cytologically. Cytology samples from 129 patients diagnosed with ASC-US were used. Images of several atypical cells observed in these cases were presented on the Web. The study, based on the voting results, was presented and opinions were exchanged at the meeting of the Japanese Society of Clinical Cytology. The final diagnosis of ASC-US was benign lesions in 76 cases and low- and high-grade squamous intraepithelial lesions in 44, but no definite diagnosis could be made for the remaining 9. The total number of votes was 17,884 with a 36.5% consistency of cases judged as ASC-US. Benign cases were divided into 6 categories. Four categories not corresponding to the features of koilocytosis and small abnormal keratinized cells were judged as negative for an intraepithelial lesion or malignancy at a high rate. A Web-based survey would be useful which could be viewed at any time and thereby facilitate the sharing of cases to increase consistency. Copyright © 2011 S. Karger AG, Basel.

Confocal Microscopy for the Histological Fluorescence Pattern of a Recurrent Atypical Meningioma: Case Report

PubMed Central

Whitson, Wesley J.; Valdes, Pablo A.; Harris, Brent T.; Paulsen, Keith D.; Roberts, David W.

2013-01-01

Background and Importance Fluorescence-guided resection with 5-aminolevulinic acid (5-ALA), which has shown promising results in the resection of malignant gliomas, has been used for meningioma resection in an attempt to more clearly delineate the tumor margin. However, no article has investigated the fluorescence pattern of meningiomas on a histological level. Understanding the microscopic pattern of fluorescence could help assess the precision and utility of using 5-ALA for these tumors. We present the case of a recurrent atypical meningioma operated on with 5-ALA fluorescence-guided resection for delineation of tumor tissue from surrounding uninvolved dura. Clinical Presentation A 53-year-old woman presented with recurrent atypical meningioma of the falx. Prior treatment included surgical resection 6 years earlier with subsequent fractionated radiation therapy and radiosurgery for tumor progression. The patient was given 5-ALA 20 mg/kg body weight dissolved in 100 mL water 3 hours before induction of anesthesia. Intraoperative fluorescence was coregistered with preoperative imaging. Neuropathological analysis of the resected falx with confocal microscopy enabled correlation of fluorescence with the extent of tumor on a histological level. Conclusion Fluorescence guidance allowed clear intraoperative delineation of tumor tissue from adjacent, uninvolved dura. On a microscopic level, there was a very close correlation of fluorescence with tumor, but some tumor cells did not fluoresce. PMID:21389893

Atypical location of an osteoid osteoma with atypical anterior knee pain

PubMed Central

Harun, Mutlu; Hayrettin, Yaldız; Serhat, Mutlu; Engin, Cetinkaya; Kamil, Cepni; Armagan, Arslan; Sancar, Parmaksızoglu Atilla

2014-01-01

INTRODUCTION An osteoid osteoma is a painful tumor that most commonly affects the extra-articular parts of the long bones. An intra-articular location of an osteoid osteoma is rare. Various differential diagnoses may arise in connection with such an unusual location because it causes atypical clinical signs. PRESENTATION OF CASE A 24-year-old male developed pain in the central region of the right knee. Magnetic resonance imaging (MRI) showed no clear pathology in the knee joint. A technetium bone scan and computed tomography (CT) were then ordered and confirmed the presence of an osteoid osteoma in the knee joint. The patient was treated through an anteromedial approach to the knee, and the lesion was removed by excisional biopsy under fluoroscopy. DISCUSSION The diagnosis of intra-articular osteoid osteoma is challenging because the clinical presentation can be misleading. MRI is often requested as the first imaging method when dealing with knee symptoms, and radiologists are often unaware of the clinical presentation. Edema seen on MRI can be misleading with respect to the location of the nidus. CT is considered to be the best imaging method because it usually allows for clear visualization of the nidus. Different treatments have been proposed, ranging from open excision to arthroscopic resection. CONCLUSION Osteoid osteoma should be considered in young adult patients with chronic knee pain and no history of trauma. PMID:25462055

Glutamatergic neurotransmission modulation and the mechanisms of antipsychotic atypicality.

PubMed

Heresco-Levy, Uriel

2003-10-01

The neurotransmission mediated by the excitatory amino acids (EAA) glutamate (GLU) and aspartate is of interest to the pharmacotherapy of psychosis due to its role in neurodevelopment and neurotoxicity, its complex interactions with dopaminergic and other neurotransmitter systems and its pivotal importance in recent models of schizophrenia. Accumulating evidence indicates that modulation of glutamatergic neurotransmission may play an important role in the mechanisms of action of atypical antipsychotic drugs. The principles of the phencyclidine (PCP) model of schizophrenia suggest that conventional neuroleptics cannot counteract all aspects of schizophrenia symptomatology, while a more favorable outcome, including anti-negative and cognitive symptoms effects, would be expected with the use of treatment modalities targeting glutamatergic neurotransmission. Clozapine and other presently used atypical antipsychotics differ from conventional neuroleptics in the way they affect various aspects of glutamatergic receptors function. In this context, a specific hypothesis suggesting an agonistic role of clozapine at the N-methyl-D-aspartate (NMDA) subtype of GLU receptors has been postulated. Furthermore, the results of the first generation of clinical trials with glycine (GLY) site agonists of the NMDA receptor in schizophrenia suggest that this type of compounds (1) have efficacy and side effects profiles different than those of conventional neuroleptics and (2) differ in their synergic effects when used in addition to conventional neuroleptics versus clozapine and possibly additional atypical antipsychotics. These findings (1) bring further support to the hypothesis that glutamatergic effects may play an important role in the mechanism of action of atypical antipsychotics, (2) help explain the unique clinical profile of clozapine, and (3) suggest that GLY site agonists of the NMDA receptor may represent a new class of atypical antipsychotic medication. Future research in this area is bound to bring about a better understanding of the role of glutamatergic neurotransmission manipulation in the pharmacotherapy of psychosis and the development of novel pharmacological strategies targeting GLU brain systems.

Molecular imaging in the diagnosis of Alzheimer's disease and related disorders.

PubMed

Koric, L; Guedj, E; Habert, M O; Semah, F; Branger, P; Payoux, P; Le Jeune, F

2016-12-01

The diagnosis of Alzheimer's disease (AD) and its related disorders rely on clinical criteria. There is, however, a large clinical overlap between the different neurodegenerative diseases affecting cognition and, frequently, there are diagnostic uncertainties with atypical clinical presentations. Current clinical practices can now regularly use positron emission tomography (PET) and single-photon emission computed tomography (SPECT) molecular imaging to help resolve such uncertainties. The Neurology Group of the French Society of Nuclear Medicine and Federations of Memory, Resources and Research Centers have collaborated to establish clinical guidelines to determine which molecular imaging techniques to use when seeking a differential diagnosis between AD and other neurodegenerative disorders affecting cognition. According to the current medical literature, the potential usefulness of molecular imaging to address the typical clinical criteria in common forms of AD remains modest, as typical AD presentations rarely raise questions of differential diagnoses with other neurodegenerative disorders. However, molecular imaging could be of significant value in the diagnosis of atypical neurodegenerative disorders, including early onset, rapid cognitive decline, prominent non-amnestic presentations involving language, visuospatial, behavioral/executive and/or non-cognitive symptoms in AD, or prominent amnestic presentations in other non-AD dementias. The clinical use of molecular imaging should be recommended for assessing cognitive disturbances particularly in patients with early clinical onset (before age 65) and atypical presentations. However, diagnostic tools should always be part of the global clinical approach, as an isolated positive result cannot adequately establish a diagnosis of any neurodegenerative disorder. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Atypical epithelial changes in the uterine cervix

PubMed Central

Kirkland, James A.

1963-01-01

Atypical epithelium, i.e., epithelium showing changes just insufficient to warrant a diagnosis of carcinoma in situ, was re-studied in surgical material from 66 patients. Most of these specimens had originally been reported as suspicious or potentially malignant. Of the 66 patients, 62 were alive and 46 of these were `untreated' having had no treatment to the cervix since the original operation. Thirty-seven of the 66 were examined personally, 28 of these being `untreated'; nineteen were found to have gynaecological abnormalities. Cytological examination was performed on 36, with only one suspicious smear; none of these patients was found to have invasive carcinoma or carcinoma in situ. Of the remaining 25 patients not seen personally, all were considered by their doctors to be free of any significant cervical lesion. The incidence of progression from atypical epithelium to carcinoma in situ is so different in the published reports that the definitions must surely be different. Sections from 15 cases of carcinoma in situ were therefore submitted to seven skilled pathologists, and as only 70 out of 105 diagnoses came into this category, the need for agreed definition is obvious. The present study shows a depressing persistence of the original or similar complaint. The follow-up (average 7·4 years) suggests that atypical epithelial change is unlikely to progress to carcinoma. Images PMID:14033012

A pediatric case of Fascioliasis with eosinophilic pneumonia.

PubMed

Bayhan, Gülsüm İclal; Batur, Abdulsamet; Taylan-Özkan, Ayşegül; Demirören, Kaan; Beyhan, Yunus Emre

2016-01-01

Fasciolia spp. are common trematode infestations worldwide. Fasciolia spp. may lead to hepatic diseases in the acute phase and may cause biliary diseases in the chronic phase. In addition, Fasciolia spp. may rarely cause extrahepatic signs and symptoms. The clinical manifestations of fascioliasis are divided into three groups: typical, atypical, and ectopic. Eosinophilic pneumonia is an atypical presentation of acute fascioliasis and it has been reported very rarely. Herein, we report a boy with marked blood eosinophilia and eosinophilic pneumonia who was diagnosed with fascioliasis by serologic tests and abdominal USG. The patient recovered completely following triclabendazole treatment.

The Utility and Comparative Incremental Validity of the MMPI-2 and Trauma Symptom Inventory Validity Scales in the Detection of Feigned PTSD

ERIC Educational Resources Information Center

Efendov, Adele A.; Sellbom, Martin; Bagby, R. Michael

2008-01-01

The authors examined the comparative predictive capacity of the Trauma Symptom Inventory (TSI) Atypical Response Scale (ATR) and the standard set of Minnesota Multiphasic Personality Inventory-2 (MMPI-2) fake-bad validity scales (i.e., F, F[subscript B[prime

Early Onset of Atypical Proliferative Lesions in the Lungs of a Libby Amphibole (LA) Exposed Rat Model of Cardiovascular Disease-Associated Iron Overlo

EPA Science Inventory

Rationale: Miners and residents of Libby, Montana have increased incidences of asbestos-related diseases associated with exposure to amphibole contaminated vermiculite. Amphiboles have been shown to bind endogenous iron and modulate fiber induced inflammatory response. We hypoth...

Development of Gender Discrimination: Role of Stereotypic and Counterstereotypic Gender Cues.

ERIC Educational Resources Information Center

Etaugh, Claire; Duits, Terri

1990-01-01

A group of 76 male and female toddlers identified drawings depicting boys and girls alone or with sex-typical or sex-atypical toys by responding "girl" or "boy,""girls' toy" or "boys' toy." The youngest girls outperformed the youngest boys in identifying toys. Otherwise, responses in general improved with…

Sensory Symptoms and Processing of Nonverbal Auditory and Visual Stimuli in Children with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Stewart, Claire R.; Sanchez, Sandra S.; Grenesko, Emily L.; Brown, Christine M.; Chen, Colleen P.; Keehn, Brandon; Velasquez, Francisco; Lincoln, Alan J.; Müller, Ralph-Axel

2016-01-01

Atypical sensory responses are common in autism spectrum disorder (ASD). While evidence suggests impaired auditory-visual integration for verbal information, findings for nonverbal stimuli are inconsistent. We tested for sensory symptoms in children with ASD (using the Adolescent/Adult Sensory Profile) and examined unisensory and bisensory…

Sex-Atypical Interests and Inferred Values of Ns of One.

ERIC Educational Resources Information Center

Diamond, Esther E.

Over the years, the responses of men and women to interest inventories have shown large differences that, in the interests of sex-fairness, have necessitated separate scales and norms for empirically built inventories. The degree of overlap between scores on male- and female-normed scales quickly identifies the individual with sex-typical or…

Heterogeneity of Social Approach Behaviour in Williams Syndrome: The Role of Response Inhibition

ERIC Educational Resources Information Center

Little, Katie; Riby, Deborah M.; Janes, Emily; Clark, Fiona; Fleck, Ruth; Rodgers, Jacqui

2013-01-01

The developmental disorder of Williams syndrome (WS) is associated with an overfriendly personality type, including an increased tendency to approach strangers. This atypical social approach behaviour (SAB) has been linked to two potential theories: the amygdala hypothesis and the frontal lobe hypothesis. The current study aimed to investigate…

The non-classical MAP kinase ERK3 controls T cell activation.

PubMed

Marquis, Miriam; Boulet, Salix; Mathien, Simon; Rousseau, Justine; Thébault, Paméla; Daudelin, Jean-François; Rooney, Julie; Turgeon, Benjamin; Beauchamp, Claudine; Meloche, Sylvain; Labrecque, Nathalie

2014-01-01

The classical mitogen-activated protein kinases (MAPKs) ERK1 and ERK2 are activated upon stimulation of cells with a broad range of extracellular signals (including antigens) allowing cellular responses to occur. ERK3 is an atypical member of the MAPK family with highest homology to ERK1/2. Therefore, we evaluated the role of ERK3 in mature T cell response. Mouse resting T cells do not transcribe ERK3 but its expression is induced in both CD4⁺ and CD8⁺ T cells following T cell receptor (TCR)-induced T cell activation. This induction of ERK3 expression in T lymphocytes requires activation of the classical MAPK ERK1 and ERK2. Moreover, ERK3 protein is phosphorylated and associates with MK5 in activated primary T cells. We show that ERK3-deficient T cells have a decreased proliferation rate and are impaired in cytokine secretion following in vitro stimulation with low dose of anti-CD3 antibodies. Our findings identify the atypical MAPK ERK3 as a new and important regulator of TCR-induced T cell activation.

The Non-Classical MAP Kinase ERK3 Controls T Cell Activation

PubMed Central

Mathien, Simon; Rousseau, Justine; Thébault, Paméla; Daudelin, Jean-François; Rooney, Julie; Turgeon, Benjamin; Beauchamp, Claudine; Meloche, Sylvain; Labrecque, Nathalie

2014-01-01

The classical mitogen-activated protein kinases (MAPKs) ERK1 and ERK2 are activated upon stimulation of cells with a broad range of extracellular signals (including antigens) allowing cellular responses to occur. ERK3 is an atypical member of the MAPK family with highest homology to ERK1/2. Therefore, we evaluated the role of ERK3 in mature T cell response. Mouse resting T cells do not transcribe ERK3 but its expression is induced in both CD4+ and CD8+ T cells following T cell receptor (TCR)-induced T cell activation. This induction of ERK3 expression in T lymphocytes requires activation of the classical MAPK ERK1 and ERK2. Moreover, ERK3 protein is phosphorylated and associates with MK5 in activated primary T cells. We show that ERK3-deficient T cells have a decreased proliferation rate and are impaired in cytokine secretion following in vitro stimulation with low dose of anti-CD3 antibodies. Our findings identify the atypical MAPK ERK3 as a new and important regulator of TCR-induced T cell activation. PMID:24475167

Effects of Metformin on Spatial and Verbal Memory in Children with ASD and Overweight Associated with Atypical Antipsychotic Use.

PubMed

Aman, Michael G; Hollway, Jill A; Veenstra-VanderWeele, Jeremy; Handen, Benjamin L; Sanders, Kevin B; Chan, James; Macklin, Eric; Arnold, L Eugene; Wong, Taylor; Newsom, Cassandra; Hastie Adams, Rianne; Marler, Sarah; Peleg, Naomi; Anagnostou, Evdokia A

2018-05-01

Studies in humans and rodents suggest that metformin, a medicine typically used to treat type 2 diabetes, may have beneficial effects on memory. We sought to determine whether metformin improved spatial or verbal memory in children with autism spectrum disorder (ASD) and overweight associated with atypical antipsychotic use. We studied the effects of metformin (Riomet ® ) concentrate on spatial and verbal memory in 51 youth with ASD, ages 6 through 17 years, who were taking atypical antipsychotic medications, had gained significant weight, and were enrolled in a trial of metformin for weight management. Phase 1 was a 16-week, randomized, double-blind, placebo-controlled, parallel-group comparison of metformin (500-850 mg given twice a day) versus placebo. During Phase 2, all participants took open-label metformin from week 17 through week 32. We assessed spatial and verbal memory using the Neuropsychological Assessment 2nd Edition (NEPSY-II) and a modified children's verbal learning task. No measures differed between participants randomized to metformin versus placebo, at either 16 or 32 weeks, after adjustment for multiple comparisons. Sixteen-week change in memory for spatial location on the NEPSY-II was nominally better among participants randomized to placebo. However, patterns of treatment response across all measures revealed no systematic differences in performance, suggesting that metformin had no effect on spatial or verbal memory in these children. Although further study is needed to support these null effects, the overall impression is that metformin does not affect memory in overweight youth with ASD who were taking atypical antipsychotic medications.

Cecal duplication: A mimicker of intussusception: A case report and review.

PubMed

Radhakrishna, Veerabhadra; Rijhwani, Ashok; Jadhav, Bhushanrao

2018-07-01

Cecal duplication is a rare congenital anomaly and to the best of our knowledge, only 43 cases have been reported in the literature till date. Most of them present within the first year of life. They can mimic intussusception, and the delay in diagnosis can lead to high morbidity. A five-year boy presented with pain abdomen for a week. He was found to have ileocolic intussusception. The intussusception could only be partially reduced by the hydrostatic method. On laparotomy, a submucosal solid mass was found in the cecum with multiple enlarged lymph nodes. Mass was resected with clear margins and lymph nodes sampled. Histopathology was conclusive of cecal duplication. Post-operative course was uneventful, and the child is thriving well, last reviewed at three-year follow-up. Incomplete reduction of intussusception, intussusception with atypical presentation or intussusception in atypical age group should alert to the possibility of cecal duplication.

Riddle Me This: Acalculous Cholecystitis as an Unusual Complication of Immunoglobulin M Negative Mononucleosis.

PubMed

Höhn, Philipp; Braumann, Chris; Uhl, Waldemar; Luu, Andreas M

2018-04-19

Infectious mononucleosis is a common disease of the adolescent caused by the Epstein-Barr virus (EBV). We present a rare case of a male adult with acalculous cholecystitis due to infectious mononucleosis. A correct diagnosis was challenging due to a false negative antibody test. Laboratory values were significant for a marked lymphocytosis and an early Immunoglobulin G (IgG) response without initial Immunoglobulin M (IgM) elevation. However, IgM antibodies were elevated two weeks later. Symptoms resolved quickly under symptomatic therapy. Antibody level patterns in asplenic patients with infectious mononucleosis are characterized by an atypical course with a delayed rise in IgM antibodies, which complicates the correct diagnosis of an EBV-induced acalculous cholecystitis.

Output order reflects the cognitive accessibility of goals.

PubMed

Grimes, Carrie E; Nes, Lise Solberg; Waldman, Andrea; Segerstrom, Suzanne C

2012-01-01

Goal accessibility--the ease or speed with which a goal is activated--increases the likelihood that it will be acted on. The present studies validate output order as a measure of goal accessibility that can be applied to goal lists in both laboratory and naturalistic settings. In three studies, output order (the order in which goals are listed in a free-response format) was related to self-reported goal value but was not redundant with it. Furthermore, output order was affected by motivational priming whereas value was not, and order associated with typical student goals (e.g., achievement) compared with atypical goals (e.g., power). Output order is well suited to bring the study of accessibility to naturalistic studies of goals and goal pursuit.

Processing of affective speech prosody is impaired in Asperger syndrome.

PubMed

Korpilahti, Pirjo; Jansson-Verkasalo, Eira; Mattila, Marja-Leena; Kuusikko, Sanna; Suominen, Kalervo; Rytky, Seppo; Pauls, David L; Moilanen, Irma

2007-09-01

Many people with the diagnosis of Asperger syndrome (AS) show poorly developed skills in understanding emotional messages. The present study addressed discrimination of speech prosody in children with AS at neurophysiological level. Detection of affective prosody was investigated in one-word utterances as indexed by the N1 and the mismatch negativity (MMN) of auditory event-related potentials (ERPs). Data from fourteen boys with AS were compared with those for thirteen typically developed boys. These results suggest atypical neural responses to affective prosody in children with AS and their fathers, especially over the RH, and that this impairment can already be seen at low-level information processes. Our results provide evidence for familial patterns of abnormal auditory brain reactions to prosodic features of speech.

Gender nonconformity, sexual orientation, and psychological well-being.

PubMed

Rieger, Gerulf; Savin-Williams, Ritch C

2012-06-01

Both a same-sex sexual orientation and gender nonconformity have been linked with poorer well-being; however, sexual orientation and gender nonconformity are also correlated. It is, therefore, critical to investigate their independent contributions to well-being. Based on survey responses of 230 female and 245 male high school seniors, the present study is one of the first to provide empirical data on this topic. Both childhood and adolescent gender nonconformity were negatively related to well-being. In the same analyses, neither sexual orientation nor biological sex was a significant predictor of well-being. These results suggest that gender-atypical traits may be more relevant for psychological health than a same-sex sexual orientation. Both environmental and biological influences may account for these findings.