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Sample records for lymphoproliferative disorder presenting

  1. Hodgkin's disease as unusual presentation of post-transplant lymphoproliferative disorder after autologous hematopoietic cell transplantation for malignant glioma

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    Scelsi Mario

    2005-08-01

    Full Text Available Abstract Background Post-transplant lymphoproliferative disorder (PTLD is a complication of solid organ and allogeneic hematopoietic stem cell transplantation (HSCT; following autologous HSCT only rare cases of PTLD have been reported. Here, a case of Hodgkin's disease (HD, as unusual presentation of PTLD after autologous HSCT for malignant glioma is described. Case presentation 60-years old man affected by cerebral anaplastic astrocytoma underwent subtotal neurosurgical excision and subsequent high-dose chemotherapy followed by autologous HSCT. During the post HSCT course, cranial irradiation and corticosteroids were administered as completion of therapeutic program. At day +105 after HSCT, the patient developed HD, nodular sclerosis type, with polymorphic HD-like skin infiltration. Conclusion The clinical and pathological findings were consistent with the diagnosis of PTLD.

  2. Mutlifocal osseous posttransplantation lymphoproliferative disorder: case report

    International Nuclear Information System (INIS)

    Lo, Ryan; Michalicek, Zachary; Lazarus, Martin

    2015-01-01

    Posttransplant lymphoproliferative disorder (PTLD) is a known complication of organ transplantation, but musculoskeletal involvement of PTLD remains very rare. We present a case of recurrent PTLD of the bone in a heart transplant patient that was misdiagnosed as gout for several years. There are only a few cases of osseous PTLD in the literature, and we hope to better characterize its imaging findings on multiple imaging modalities. (orig.)

  3. Mutlifocal osseous posttransplantation lymphoproliferative disorder: case report

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    Lo, Ryan [University of Chicago, Department of Radiology, Chicago, IL (United States); Michalicek, Zachary [Northshore University Healthsystems, Department of Pathology, Evanston, IL (United States); Lazarus, Martin [Northshore University Healthsystems, Department of Radiology, Evanston, IL (United States)

    2015-02-14

    Posttransplant lymphoproliferative disorder (PTLD) is a known complication of organ transplantation, but musculoskeletal involvement of PTLD remains very rare. We present a case of recurrent PTLD of the bone in a heart transplant patient that was misdiagnosed as gout for several years. There are only a few cases of osseous PTLD in the literature, and we hope to better characterize its imaging findings on multiple imaging modalities. (orig.)

  4. Granulomatous Lymphoproliferative Disorders: Granulomatous Slack Skin and Lymphomatoid Granulomatosis.

    Science.gov (United States)

    Gangar, Pamela; Venkatarajan, Sangeetha

    2015-07-01

    Granulomatous cutaneous T-cell lymphomas (CTCL) and lymphomatoid granulomatosis are considered granulomatous lymphoproliferative disorders. The most common types of granulomatous CTCL are granulomatous mycosis fungoides and granulomatous slack skin. Lymphomatoid granulomatosis is a rare Epstein-Barr virus driven lymphoproliferative disorder. This article reviews the etiopathogenesis, clinical presentation, systemic associations, and management of both granulomatous slack skin syndrome and lymphomatoid granulomatosis. Copyright © 2015 Elsevier Inc. All rights reserved.

  5. Post-transplant lymphoproliferative disorders.

    Science.gov (United States)

    Singavi, Arun K; Harrington, Alexandra M; Fenske, Timothy S

    2015-01-01

    Post-transplant lymphoproliferative disorders (PTLD) are a serious complication after solid organ or allogeneic hematopoietic stem cell transplantation and include a range of diseases from benign proliferations to malignant lymphomas. Risk factors for developing PTLD include Epstein-Barr virus (EBV) infection, recipient age, transplanted organ, type of immunosuppression, and genetics. Uncontrolled proliferation of EBV-infected B cells is implicated in EBV-positive PTLD, whereas the pathogenesis of EBV-negative PTLD may be similar to non-Hodgkin's lymphoma in the general population. The World Health Organization (WHO) classifies PTLD into four categories: early lesions, polymorphic PTLD, monomorphic PTLD, and classical Hodgkin's lymphoma (cHL). Treatment is aimed at cure of PTLD, while maintaining transplanted organ function. However, there are no established guidelines for the treatment of PTLD. Immune suppression reduction (ISR) is the first line of treatment in most cases, with more recent data suggesting early use of rituximab. In more aggressive forms of PTLD, upfront chemotherapy may offer a better and more durable response. Sequential therapy using rituximab followed by chemotherapy has demonstrated promising results and may establish a standard of care. Novel therapies including anti-viral agents, adoptive immunotherapy, and monoclonal antibodies targeting cytokines require further study in the prevention and treatment of PTLD.

  6. Native kidney posttransplant lymphoproliferative disorder in a renal transplant recipient.

    Science.gov (United States)

    Chandra, Abhilash; Kaul, Anupama; Aggarwal, Vinita; Srivastava, Divya

    2017-01-01

    Compared with the general population, cancer risk in kidney transplant recipients is much higher. In the present study, we report a patient who was diagnosed with posttransplant lymphoproliferative disorder (PTLD) and had a fulminant course, dying within few days of diagnosis. This case report highlights the importance of timely detection and treatment of PTLD as it is associated with high mortality rate.

  7. Native kidney posttransplant lymphoproliferative disorder in a renal transplant recipient

    OpenAIRE

    Abhilash Chandra; Anupama Kaul; Vinita Aggarwal; Divya Srivastava

    2017-01-01

    Compared with the general population, cancer risk in kidney transplant recipients is much higher. In the present study, we report a patient who was diagnosed with posttransplant lymphoproliferative disorder (PTLD) and had a fulminant course, dying within few days of diagnosis. This case report highlights the importance of timely detection and treatment of PTLD as it is associated with high mortality rate.

  8. Cutaneous lymphoproliferative disorder complicating infectious mononucleosis in an immunosuppressed patient.

    Science.gov (United States)

    Owen, Cindy England; Callen, Jeffrey P; Bahrami, Soon

    2011-01-01

    Infectious mononucleosis is the syndrome produced by primary infection with Epstein-Barr virus during adolescence or early adulthood. In immunosuppressed individuals, depressed T-cell function allows the Epstein-Barr virus-driven B-cell proliferation to continue unabated, potentially leading to a lymphoproliferative disorder. A 15-year-old girl with a history of ulcerative colitis treated with 6-mercaptopurine and mesalamine presented with the acute onset of a rapidly enlarging, ulcerative nodule on her left lower eyelid 4 weeks following recovery from infectious mononucleosis. The biopsy revealed an Epstein-Barr virus-positive lymphoproliferative disorder. Systemic disease was absent. Following discontinuation of 6-mercaptopurine, the patient was treated with two courses of intravenous cyclophosphamide. The lesion resolved completely and she remains disease free at 14 months following diagnosis. We report a solitary cutaneous lesion of an immunosuppression-related lymphoproliferative disorder (IR-LPD) occurring as a complication of infectious mononucleosis, and review the pathogenesis and reported cases of Epstein-Barr virus-related immunosuppression-related lymphoproliferative disorder arising in the setting of inflammatory bowel disease. It is important for dermatologists and dermatopathologists to be aware of the occurrence of IR-LPD in patients being treated for inflammatory conditions, including inflammatory bowel disease. Given the role of primary infection with Epstein-Barr virus in the development of IR-LPD, consideration may be given to assessing Epstein-Barr virus status prior to initiating immunosuppressive therapy in young patients. © 2010 Wiley Periodicals, Inc.

  9. T-Cell lymphoproliferative disorder of hand-mirror cell morphology presenting in an eosinophilic loculated peritoneal effusion, with omental "caking"

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    Tufankjian Dearon

    2006-01-01

    Full Text Available Abstract Background Cells with "hand mirror" morphology have not, to the best of our knowledge, been described in a primary effusion sample. This paper describes a case of T-cell lymphoma with eosinophilia in a patient with suspected peritoneal carcinomatosis. Rarely, a T-cell lymphoproliferative process may mimic primary peritoneal carcinomatosis, clinically suggested by a presentation in CT imaging of omental caking with bilateral massive loculated effusions in a patient without lymphadenopathy or splenomegaly. Methods A 60 year old caucasian male presented with vague abdominal discomfort and increasing abdominal girth. Computed tomography showed a two centimeter thick omental cake and a small loculated effusion. The clinical presentation and imaging findings were most consistent with peritoneal carcinomatosis. Cytologic evaluation of the effusion was undertaken for diagnostic study. Results Rapid intraprocedural interpretation of the effusion sample showed a monomorphic population of cells with "hand-mirror" cell morphology exhibiting cytoplasmic extensions (uropodia with 3–5 course dark cytoplasmic granules and a rim of vacuolated cytoplasm capping the opposing "mirror head" side. These cells were seen within a background of mature eosinophils. Flow cytometric evaluation of the ascites fluid demonstrated an atypical T-cell population with the following immunophenotype: CD2-, CD3+, CD4-, CD5-, CD7-, CD8+, CD56+. T-cell receptor (TCR gene rearrangement was positive for clonal TCR-gamma gene rearrangement, supporting the diagnosis of a T-lymphoprolifereative disorder. Conclusion A T-cell lymphoproliferative process may present with "hand mirror" morphology in an effusion sample. These cells may show polar cytoplasmic vacuolization and 3–5 course granules within the "handle" of these unique cells. Cytoplasm shows peripheral constriction around the nucleus.

  10. Characterization of primary cutaneous CD8+/CD30+ lymphoproliferative disorders.

    Science.gov (United States)

    Martires, Kathryn J; Ra, Seong; Abdulla, Farah; Cassarino, David S

    2015-11-01

    CD30 primary cutaneous lymphoproliferative diseases include both lymphomatoid papulosis (LyP) and primary cutaneous anaplastic large cell lymphoma (PCALCL). The neoplastic cell of most primary CD30 lymphoproliferative disorders is CD4 positive. The terminology LyP "type D" has been used to describe a growing number of cases of LyP with a predominantly CD8 infiltrate. PCALCL with a CD8 phenotype has also been described, which presents a particularly difficult diagnostic and management challenge, given the difficulty in distinguishing it histologically from other cytotoxic lymphomas such as primary cutaneous aggressive epidermotropic CD8 cytotoxic T-cell lymphoma and CD8 gamma/delta and natural killer/T-cell lymphoma. We report 7 additional cases of these rare cutaneous CD8/CD30 lymphoproliferative disorders. We also present a unique case of CD8/CD30 LyP with histologic similarities to LyP type B. In all 7 of our cases of CD8 LyP and CD8 anaplastic large cell lymphoma, we found focal to diffuse MUM-1 positivity. We propose that MUM-1 may represent an adjunctive marker for CD8 lymphoproliferative disease. Finally, we review the current literature on cases of CD8 LyP and PCALCL. For the 106 cases examined, we found similar clinical and histologic features to those reported for traditional CD4CD30 LyP and PCALCL.

  11. Native kidney posttransplant lymphoproliferative disorder in a renal transplant recipient

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    Abhilash Chandra

    2017-01-01

    Full Text Available Compared with the general population, cancer risk in kidney transplant recipients is much higher. In the present study, we report a patient who was diagnosed with posttransplant lymphoproliferative disorder (PTLD and had a fulminant course, dying within few days of diagnosis. This case report highlights the importance of timely detection and treatment of PTLD as it is associated with high mortality rate.

  12. Post-kidney transplant large bowel lymphoproliferative disorder

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    Neeraj Singh

    2014-01-01

    Full Text Available Epstein-Barr virus (EBV-associated post-transplant lymphoproliferative disorder (PTLD is a serious complication of organ transplantation. The gastrointestinal (GI tract is a common site involved, but non-specific signs and symptoms often delay the diagnosis. We report a case of EBV-associated GI-PTLD in a 68-year-old kidney transplant patient who received the kidney ten months earlier. He presented with chronic diarrhea and developed massive pneumo-peritoneum secondary to multiple colonic perforations.

  13. X-Linked Lymphoproliferative Disease Presenting as Pancytopenia in a 10-Month-Old Boy

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    S. Nicole Chadha

    2010-01-01

    Full Text Available X-linked lymphoproliferative disease, also known as Duncan's syndrome, is a rare genetic disorder that causes exaggerated immune responses to Epstein-Barr virus (EBV infection and often leads to death. Patient presentation varies but can include signs and symptoms typical of EBV, pancytopenia, and fulminant hepatitis.

  14. The radiographic findings of lymphoproliferative disorders of the lung

    International Nuclear Information System (INIS)

    Song Wei; Li Liping; Yan Hongzhen

    2002-01-01

    Objective: To study the radiographic findings of lymphoproliferative disorders of the lung. Methods: Twenty-five patients with lymphoproliferative disorders of the lung were examined by X-ray film, tomography, and CT. Results: Multiple and mediastinal lymphadenopathy were observed in 2 patients with pulmonary pseudolymphoma. Multiple nodules or masses were observed in 4 patients with pulmonary lymphomatoid granulomatosis. Hilar and mediastinal lymphadenopathy was observed in each patient with angioimmunoblastic lymphadenopathy, 2 patients had multiple nodules or masses, 8 patients had single or multiple patchy infiltrations, 10 had diffuse interstitial infiltrations. 3 patients with Castlemen' disease had a mass in the mediastinum, and another patient had mediastinal lymphadenopathy. Conclusion: Radiographic findings of lymphoproliferative disorders of the lung are varied, and the final diagnosis relies on pathology

  15. Relative adrenal insufficiency in post-transplant lymphoproliferative disorder.

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    Cinclair R

    2003-01-01

    Full Text Available Post-transplant lymphoproliferative disorder is treated with rapid decrement of immunosuppressive therapy. This cannot be achieved with ease in patients on long-term glucocorticoid therapy, as chronically suppressed adrenal glands may not be capable of mounting adequate response to stress. A 52-year-old Caucasian male presented with fever, orthostatic hypotension, lymphadenopathy and hyponatraemia. Serum cortisol levels were within normal levels with a sub optimal response to stimulation by ACTH. Hyponatraemia and orthostasis responded poorly to fluid restriction, saline and salt repletion but corrected after increasing the steroid dose. The normal baseline cortisol levels represented a stimulated adrenal gland, however, the ACTH stimulation had inadequate response. This sub optimal stimulation and a good response to increased steroids suggest the presence of relative or occult adrenal insufficiency. Relative adrenal insufficiency must be considered in patients who have received prolonged glucocorticoid therapy and have symptoms such as hypotension and/or hyponatraemia.

  16. CD30+ lymphoproliferative disorder with spindle-cell morphology.

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    Martires, Kathryn J; Cohen, Brandon E; Cassarino, David S

    2016-11-01

    Lymphomatoid papulosis (LyP) is classified as a CD30+ primary cutaneous lymphoproliferative disease. The phenotypic variability along the spectrum of CD30+ lymphoproliferative diseases is highlighted by the distinct histologic subtypes of LyP types A, B, C, and the more recently described types D, E, and F. We report the case of an elderly woman with a clinical presentation and histopathologic findings consistent with LyP, whose atypical CD30+ infiltrate uniquely demonstrated a spindle-cell morphology. To our knowledge, this is the first reported case of LyP characterized by CD30+ spindle-shaped cells, and may represent a new and distinct histologic variant of LyP. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Interleukin-10 and posttransplant lymphoproliferative disorder after kidney transplantation

    DEFF Research Database (Denmark)

    Birkeland, S.A.; Bendtzen, K.; Moller, B.

    1999-01-01

    Background. Posttransplant lymphoproliferative disorder (PTLD) is a life-threatening complication of transplantation, which comprises a morphologically and clinically heterogeneous spectrum of B-lymphocyte diseases. Risk factors include primary or reactivated Epstein-Barr virus (EBV) infection...... to the development of PTLD in three kidney transplanted patients. The study now includes nine patients that could be followed before and/or after the occurrence of lymphoma, Methods. Nine patients with lymphomas (eight PTLDs and one Hodgkin's disease) were diagnosed among 268 consecutive renal transplantations (1990...

  18. Patogenetic correction of anemia with erythropoiesis-stimulating agents in lymphoproliferative disorders (literature review

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    N. A. Romanenko

    2014-07-01

    Full Text Available Literature review of anemia pathogenesis in patients with lymphatic system malignancies is presented. Advantages and disadvanta ges of eritropoiesis-stimulating preparations (ESP used for anemia correction are shown. Efficacy of anemia treatment with ESP in various types of lymphoproliferative disorders (LPD is presented. Prognostic factors that predict positive response on ESP in LPD pati ents and reduce treatment cost are identified.

  19. Patogenetic correction of anemia with erythropoiesis-stimulating agents in lymphoproliferative disorders (literature review

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    N. A. Romanenko

    2011-01-01

    Full Text Available Literature review of anemia pathogenesis in patients with lymphatic system malignancies is presented. Advantages and disadvanta ges of eritropoiesis-stimulating preparations (ESP used for anemia correction are shown. Efficacy of anemia treatment with ESP in various types of lymphoproliferative disorders (LPD is presented. Prognostic factors that predict positive response on ESP in LPD pati ents and reduce treatment cost are identified.

  20. A typical aspects of intrathoracic posttransplantation lymphoproliferative disorders

    International Nuclear Information System (INIS)

    Beigelman, C.; Leblond, V.; Suberbielle, C.; Lenoir, S.; Dorent, R.; Grenier, P.

    1995-01-01

    Posttransplant lymphoproliferative disorders (PTLD), developing after immunosuppressive therapy in human organ-graft recipients, are, for the most part, Epstein-Barr virus-induced. The earlier the diagnosis is made, the greater the potential for reversibility. The chest radiographs and CT scans of 10 patients with thoracic locations of PTLD were reviewed. Mediastinal and hilar adenopathy, pulmonary nodules, and pleural thickening or effusion were encountered. The incidence of partial resolution with clinical remission appears to be noteworthy, and in all likelihood is related to the extensive necrosis that is frequently seen. Slow regression, transitory deterioration in one case, and localization only on the graft side in two cases, were observed. These morphological and evolutionary peculiarities must be known in order to optimize the diagnosis, and thus the prognosis, of these very original disorders. (orig.)

  1. Notch signalling in primary cutaneous CD30+ lymphoproliferative disorders: a new therapeutic approach?

    DEFF Research Database (Denmark)

    Kamstrup, M R; Biskup, E; Gniadecki, R

    2010-01-01

    The oncogenic potential of deregulated Notch signalling has been described in several haematopoietic malignancies. We have previously reported an increased expression of Notch1 in primary cutaneous CD30+ lymphoproliferative disorders, lymphomatoid papulosis and primary cutaneous anaplastic large...

  2. Cerebral Post-Transplant Lymphoproliferative Disorder Occurring after Renal Transplantation: A Case Report

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    Suh, Jang Ho; Byun, Woo Mok; Kim, Hong Chul; Hwang, Min Su [Dept. of Radiology, Yeungnam University College of Medicine, Daegu (Korea, Republic of)

    2012-04-15

    Post-transplant lymphoproliferative disorder (PTLD) is a complication of organ transplantation and immunosuppression. A 36-year-old woman with a history of renal transplantation visited the hospital complaining of headache and on pathology was diagnosed with cerebral PTLD manifesting as multiple rim enhanced masses in both hemispheres. We report here a case of post-transplant lymphoproliferative disorder involving the cerebrum occurring after renal transplantation, and describe the MRI findings for this patient

  3. Cerebral Post-Transplant Lymphoproliferative Disorder Occurring after Renal Transplantation: A Case Report

    International Nuclear Information System (INIS)

    Suh, Jang Ho; Byun, Woo Mok; Kim, Hong Chul; Hwang, Min Su

    2012-01-01

    Post-transplant lymphoproliferative disorder (PTLD) is a complication of organ transplantation and immunosuppression. A 36-year-old woman with a history of renal transplantation visited the hospital complaining of headache and on pathology was diagnosed with cerebral PTLD manifesting as multiple rim enhanced masses in both hemispheres. We report here a case of post-transplant lymphoproliferative disorder involving the cerebrum occurring after renal transplantation, and describe the MRI findings for this patient

  4. Pulmonary lymphoproliferative disorders with affinity to lymphoma: a clinicopathoradiologic study of 16 cases

    International Nuclear Information System (INIS)

    Fernandez Cruz, J.; Gonzalez Garcia, A.; Escobar Casas, P.; Gomez Benitez, S.; Gonzalez Guirao, M.A.; Borderas, F.

    1993-01-01

    Pulmonary lymphoproliferative disorders include plasma cell granuloma, Castleman's disease, pseudolymphoma, lymphocytic interstitial pneumonia, angioimmunoblastic lymphadenopathy and lymphomatoid granulomatosis. We carried out a retrospective study for the purpose of analysing the clinical and radiological findings of 16 cases of pulmonary lymphoproliferative disorders seen during the decade 1980-1990. The cases comprised 8 lymphocytic interstitial pneumonia, 5 lymphomatoid granulomatosis, 2 plasma cell granuloma and 1 angioimmunoblastic lymphadenopathy. Owing to the overlap and low specificity of the radiological patterns in these processes, histopathological examination is required. In view of the frequent evolution of pulmonary lymphoproliferative disorders to malignant lymphoma (4 cases, 1 of lymphocytic interstitial pneumonia and 3 of lymphomatoid granulomatosis, in our series) we provide a description of the radiological changes that occur during this process. (orig.)

  5. Posttransplant Lymphoproliferative Disorder in a Patient with Worsening Ascites after Liver Transplantation

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    Harsh D. Patel

    2017-01-01

    Full Text Available Posttransplant lymphoproliferative disorder (PTLD is a spectrum of diseases that involves abnormal lymphoid and/or plasmacytic proliferation in patients with solid organ or hematopoietic cell transplantation. It is a condition with a low incidence of 3.5–4.3% in liver transplant (LT recipients. This case involves a 63-year-old male with history of LT for chronic HCV induced cirrhosis who presented with abdominal distension related to worsening ascites. Cytological ascitic fluid analysis revealed EBV (+ malignant cells without a malignant focal point on imaging. Diagnosis of monomorphic PTLD with primary effusion lymphoma-like morphology and immunophenotype was established. This case highlights the complexity in diagnosis, different diagnostic modalities, and rare clinical presentations of PTLD.

  6. Treatment of post-transplantation lymphoproliferative disorders after kidney transplant with rituximab and conversion to m-TOR inhibitor.

    Science.gov (United States)

    Nieto-Rios, John Fredy; Gómez de Los Ríos, Sandra Milena; Serna-Higuita, Lina María; Ocampo-Kohn, Catalina; Aristizabal-Alzate, Arbey; Gálvez-Cárdenas, Kenny Mauricio; Zuluaga-Valencia, Gustavo Adolfo

    2016-12-30

    Post-transplantation lymphoproliferative disorders are serious complications of organ transplantation which treatment is not yet standardized. To describe the clinical response, overall and graft survival of patients in our center with this complication after kidney transplantation, which received rituximab as part of their treatment as well as conversion to m-TOR. Retrospective study, which included patients, diagnosed with post-transplant lymphoproliferative disorders after kidney transplantation from January 2011 to July 2014. Eight cases were found with a wide spectrum of clinical presentations. Most had monomorphic histology, 85% were associated with Epstein-Barr virus, 25% of patients had tumor involvement of the renal graft, and 12.5% ​​had primary central nervous system lymphoma. All patients were managed with reduction of immunosuppression, conversion to m-TOR (except one who lost the graft at diagnosis) and rituximab-based therapy. The overall response rate was 87.5% (62.5% complete response, 25% partial response). Survival was 87.5% with a median follow-up of 34 months. An additional patient lost the graft, with chronic nephropathy already known. All the remaining patients had stable renal function. There are no standardized treatment regimens for lymphoproliferative disorders after kidney transplantation, but these patients can be managed successfully with reduction of immunosuppression, conversion to m-TOR and rituximab-based schemes.

  7. Endobronchial Epstein-Barr Virus Associated Post-transplant Lymphoproliferative Disorder in Hematopoietic Stem Cell Transplantation

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    S. Feuillet

    2009-01-01

    Full Text Available The Epstein-Barr virus (EBV associated Post-Transplant Lymphoproliferative Disorders (PTLD are increasingly recognized as a fatal complication of hematological stem cell transplantation (HSCT. Thoracic involvement, that may be isolated or part of a disseminated disease, usually encompasses pulmonary nodules or masses and mediastinal lymph node enlargement. The current case study presents 2 patients who underwent HSCT, one allogenic and the other autologous, who developed an exceptional endobronchial EBV related PTLD. The first patient had a fleshy white endobronchial mass resulting in a right upper lobe atelectasis and the second had an extensive necrotising mucosa from trachea to both basal bronchi without any significant change of lung parenchyma on the CT scan. In both cases, the diagnosis was made by bronchial biopsies. Physicians should be aware of an endobronchial pattern of EBV associated PTLD after HSCT to permit quick diagnosis and therapeutic intervention.

  8. Epstein-Barr virus in inflammatory bowel disease: the spectrum of intestinal lymphoproliferative disorders.

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    Nissen, Loes H C; Nagtegaal, Iris D; de Jong, Dirk J; Kievit, Wietske; Derikx, Lauranne A A P; Groenen, Patricia J T A; van Krieken, J Han J M; Hoentjen, Frank

    2015-05-01

    Inflammatory bowel disease (IBD) patients on thiopurine therapy are at increased risk of Epstein-Barr virus (EBV)-associated lymphomas. This virus is frequently detected in the intestinal mucosa of IBD patients and may cause a wide spectrum of lymphoproliferations similar to post-transplantation lymphoproliferative disorders (PTLDs). We aimed to assess whether histological aberrations aid in predicting EBV presence and to correlate histological assessment and EBV load with disease outcome in IBD. We included all IBD patients from our centre who underwent EBV testing of intestinal biopsies between January 2004 and October 2013. All biopsies were classified according to the WHO PTLD classification and the EBV load was scored per high-power field (HPF). Clinical data were collected from patient charts. Reported clinical outcomes included colectomy, need for chemotherapy and mortality. Our cohort included 58 patients: 28 were EBV-positive and 30 EBV-negative. An atypical infiltrate was seen more frequently in EBV-positive than in EBV-negative patients (57.1 versus 3.3%; p < 0.001). A high EBV load occurred more frequently in EBV-positive patients undergoing colectomy than in EBV-positive patients without colectomy (50.0 versus 10.0%; p = 0.048). Monomorphic lymphoproliferative disorders, including two overt lymphomas, were present in 10 patients. Reduction of immunosuppression resulted in histological normalization and loss of EBV expression in seven of eight non-lymphoma patients. The presence of atypical infiltrate in the intestinal mucosa of IBD patients warrants EBV testing. Reduction of immunosuppression is an effective strategy to achieve morphological normalization and loss of EBV. Lymphoproliferation related to IBD appears to have less aggressive clinical behaviour than PTLDs. Copyright © 2015 European Crohn’s and Colitis Organisation (ECCO). Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  9. Occurrence and prognostic relevance of CD30 expression in post-transplant lymphoproliferative disorders

    DEFF Research Database (Denmark)

    Vase, Maja Ølholm; Maksten, Eva Futtrup; Bendix, Knud

    2015-01-01

    Post-transplant lymphoproliferative disorders (PTLDs) are potentiallyfatal, often Epstein-Barr virus (EBV)-driven neoplasias developing in immunocompromised hosts. Initial treatment usually consists of a reduction in immunosuppressive therapy and/or rituximab with or without chemotherapy. However...... favorable outcome. For diffuse large B-cell lymphoma (DLBCL)-type PTLD this was regardless of EBV status, and remained significant in multivariate analysis. Cell-of-origin had no independent prognostic value in our series of DLBCL PTLD....

  10. Post-transplant Lymphoproliferative Disorder Arising from Renal Allograft Parenchyma: A Case Report

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    Park, Byung Kwan; Kim, Chan Kyo; Kwon, Ghee Young [Samsung Medical Center, Sungkyunkwan University College of Medicine, Seoul (Korea, Republic of)

    2010-06-15

    Post-transplant lymphoproliferative disorder (PTLD) is a rare but serious complication that occurs in patients undergoing kidney transplantation. PTLD usually manifests as a renal hilar mass comprised of histologically B-lymphocytes. We report our experience of managing a patient with PTLD arising from renal parenchyma. Ultrasonographic and MR imaging features of this unusual PTLD suggested differentiated renal cell carcinoma arising from the renal allograft

  11. Recurrent posttransplant lymphoproliferative disorder involving the larynx and trachea: case report and review of the literature.

    Science.gov (United States)

    Banks, Caroline A; Meier, Jeremy D; Stallworth, Christina R; White, David R

    2012-05-01

    Posttransplant lymphoproliferative disorder (PTLD) is a well-recognized complication of solid organ transplantation and commonly affects upper airway lymphoid tissue. Tracheal and laryngeal involvement in patients with PTLD, however, is rare. We present one such case. We report the case of a patient with recurrent PTLD involving the larynx and trachea and describe the presentation, evaluation, management, and outcome. An 11-year-old boy who underwent bilateral nephrectomy and renal transplantation as an infant was admitted to the hospital with chronic cough, fever, stridor, and dyspnea. His post-transplantation course was complicated by PTLD in cervical lymph nodes at 9 years of age that was successfully treated with chemotherapy. A computed tomographic scan during his present admission revealed supraglottic swelling, a distal tracheal mass, and paratracheal lymph node enlargement. The patient underwent laryngoscopy and bronchoscopy with biopsy specimens taken from the right laryngeal ventricle and distal trachea. Pathologic examination yielded a diagnosis of Epstein-Barr virus-positive PTLD. The patient was treated with chemotherapy, which resulted in resolution of the airway lesions, as seen on repeat bronchoscopy. This is the first report, to our knowledge, of recurrent PTLD involving simultaneous lesions in the larynx and the trachea. PTLD in the head and neck can present as lymphoid hypertrophy, airway obstruction, stridor, or cough. A high degree of clinical suspicion is essential for prompt diagnosis of this life-threatening complication.

  12. Posttransplant Lymphoproliferative Disorder After Clinical Islet Transplantation: Report of the First Two Cases.

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    Peters, A; Olateju, T; Deschenes, J; Shankarnarayan, S H; Chua, N; Shapiro, A M J; Senior, P

    2017-09-01

    We report the first two cases of posttransplant lymphoproliferative disorder (PTLD) in recipients of islet transplants worldwide. First, a 44-year-old recipient of three islet infusions developed PTLD 80 months after his initial transplantation, presenting with abdominal pain and diffuse terminal ileum thickening on imaging. He was treated with surgical excision, reduction of immunosuppression, and rituximab. Seven months later, he developed central nervous system PTLD, presenting with vertigo and diplopia; immunosuppression was discontinued, resulting in graft loss, and he was given high-dose methotrexate and underwent consolidative autologous stem cell transplantation. He remains in remission 37 months after the initial diagnosis. Second, a 58-year-old female recipient of two islet infusions developed PTLD 24 months after initial islet infusion, presenting with pancytopenia secondary to extensive bone marrow involvement. Immunosuppression was discontinued, resulting in graft loss, and she received rituximab and chemotherapy, achieving complete remission. Both patients were monomorphic B cell PTLD subtype by histology and negative for Epstein-Barr virus in tissue or blood. These cases document the first occurrences of this rare complication in islet transplantation, likely secondary to prolonged, intensive immunosuppression, and highlight the varying clinical manifestations of PTLD. Further studies are needed to determine incidence rate and risk factors in islet transplantation. © 2017 The American Society of Transplantation and the American Society of Transplant Surgeons.

  13. Lymphoproliferative disorders in non-AIDS- associated Kaposi's ...

    African Journals Online (AJOL)

    proliferative disorders are mostly of B-cell origin and include non-Hodgkin's lymphoma, chronic lymphatic leukaemia and multiple .... Bone marrow trephine biopsy revealed ... transplants, patients with auto-immune diseases and patients with ...

  14. Lymphoproliferative disorders in non-AIDS associated Kaposi's ...

    African Journals Online (AJOL)

    The association of the non-AIDS-related, classic fonn of Kaposi's sarcoma (KS) with secondary malignancies, especially Iymphoproliferative disorders, has frequently been noted. However, in endemic: African-type KS, such an association has been reported only rarely. A review of 62 non-AIDS-related cases of KS treated ...

  15. Long-term follow-up of kidney transplant patients with posttransplant lymphoproliferative disorder

    DEFF Research Database (Denmark)

    Birkeland, S A; Hamilton-Dutoit, Stephen Jacques; Bendtzen, K

    2003-01-01

    Posttransplant lymphoproliferative disorder (PTLD) can be resolved in many transplant patients by the reduction or cessation of immunosuppression, after which many grafts continue to function as the result of a form of operational tolerance. When graft function deteriorates, retransplantation may...... be an option. Cytokines such as interleukin (IL)-10 and IL-18 may play a role in PTLD tolerance induction and tumor regression. We report long-term follow-up on the duration of graft tolerance and the course of retransplantation in a series of patients who underwent kidney transplantation and demonstrated PTLD...

  16. The splenomegaly of myeloproliferative and lymphoproliferative disorders: splenic cellularity and vascularity

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, B (Capital Hospital, Peking University Medical College, Beijing (China)); Lewis, S.M. (Department of Haematology, Royal Postgraduate Medical School, London (UK))

    1989-01-01

    Employing radionuclide scanning, the volume of the spleen, its red cell pool and plasma pool have been measured in vivo, and the relative proportions of cellularity and vascularity of the spleen have been calcualted in 51 patients with myeloproliferactive and lymphoproliferative disorders. In primary proliferative polycythaemia (polycythaemia vera), the increase of spleen size was attributed mainly to the increase of splenic vascularity; in myelofibrosis and in hairy cell leukaemia, the increase of spleen size was associated with increase in both splenic vascularity and cellularity, whilst in size was associated with increase in both splenic vascularity and cellularity, whilst in CGL and CLL the increase was attributed more to cellularity than to vascularity. (author).

  17. Treatment of Primary Cutaneous CD4 Small/Medium T cell Lymphoproliferative Disorder with Intralesional Triamcinolone Acetonide.

    Science.gov (United States)

    2018-02-15

    12. REPORT TYPE 02/15/2018 Poster 4. TITLE AND SUBTITLE Treatment of Primary Cutaneous CD4+ Small/Medium T- cell Lymphoproliferative Disorder with...cutaneous CD4+ small/medium T- cell lymphoproliferative disorder (LPD) is a generally indolent cutaneous T- cell proliferation. Most cases follow a benign...lmmunohistochemistry showed diffuse CD3+ CD4+ T- cells without CD30, TIA1 or CD10. A subset of medium to large cells expressed BCL-6. Small subsets of B- cells and CDB

  18. A 5-year old male with “leukemic form” of disseminated post-transplant lymphoproliferative disorder

    Directory of Open Access Journals (Sweden)

    Saadiya Haque

    2010-03-01

    Full Text Available Post-transplant lymphoproliferative disorder (PTLD represents an abnormal lymphoid proliferation that occurs in recipients of solid organ or bone marrow allograft. It includes a diverse group of diseases ranging from polymorphic B-cell hyperplasia to frank malignant lymphoma. Clinical presentation is variable, ranging from asymptomatic to generalized lymphadenopathy, mononucleosis-like syndrome, nodal or extranodal tumors (usually gastrointestinal tract, systemic lymphomatous involvement, and rare (less than 1% of cases fulminant disseminated disease. PTLD is more common in children than in adults. Younger patients usually present with mononucleosis-like symptoms. We present an unusual case of a 5-year old male who developed a widely disseminated leukemic form of PTLD, involving lymph nodes, tonsils, multiple organs, bone marrow, cerebrospinal fluid, and peripheral blood.

  19. Systematic Epstein-Barr virus-positive T-cell lymphoproliferative disease presenting as a persistent fever and cough: a case report.

    Science.gov (United States)

    Ameli, Fereshteh; Ghafourian, Firouzeh; Masir, Noraidah

    2014-08-27

    Systemic Epstein-Barr virus-positive T-cell lymphoproliferative childhood disease is an extremely rare disorder and classically arises following primary acute or chronic active Epstein-Barr virus infection. It is characterized by clonal proliferation of Epstein-Barr virus-infected T-cells with an activated cytotoxic phenotype. This disease has a rapid clinical course and is more frequent in Asia and South America, with relatively few cases being reported in Western countries. The clinical and pathological features of the disease overlap with other conditions including infectious mononucleosis, chronic active Epstein-Barr virus infection, hemophagocytic lymphohistiocytosis and natural killer cell malignancies. We describe the rare case of systemic Epstein-Barr virus-positive T-cell lymphoproliferative childhood disease in a 16-year-old Malay boy. He presented with a six-month history of fever and cough, with pulmonary and mediastinal lymphadenopathy and severe pancytopenia. Medium- to large-sized, CD8+ and Epstein-Barr virus-encoded RNA-positive atypical lymphoid cells were present in the bone marrow aspirate. He subsequently developed fatal virus-associated hemophagocytic syndrome and died due to sepsis and multiorgan failure. Although systemic Epstein-Barr virus-positive T-cell lymphoproliferative childhood disease is a disorder which is rarely encountered in clinical practice, our case report underlines the importance of a comprehensive diagnostic approach in the management of this disease. A high level of awareness of the disease throughout the diagnosis process for young patients who present with systemic illness and hemophagocytic syndrome may be of great help for the clinical diagnosis of this disease.

  20. Advances in Understanding the Pathogenesis of Epstein-Barr Virus-Associated Lymphoproliferative Disorders.

    Science.gov (United States)

    Yang, Xi; Nishida, Naonori; Zhao, Xiaodong; Kanegane, Hirokazu

    2015-10-01

    Epstein-Barr virus (EBV) was discovered 50 years ago from an african Burkitt lymphoma cell line. EBV-associated lymphoproliferative disorders (LPDs) are life- threatening diseases, especially in children. In this article, we review EBV-associated LPDs, especially in the area of primary immunodeficiency disease (PID). We searched PubMed for publications with key words including EBV infection, lymphoma, LPDs and PID, and selected the manuscripts written in English that we judged to be relevant to the topic of this review.On the basis of the data in the literature, we grouped the EBV-associated LPDs into four categories: nonmalignant disease, malignant disease, acquired immunodeficiency disease and PID. Each category has its own risk factor for LPD development. EBV-associated LPD is a complex disease, creating new challenges for diagnosis and treatment.

  1. HLA associations and risk of posttransplant lymphoproliferative disorder in Danish population-based cohort

    DEFF Research Database (Denmark)

    Vase, Maja Ølholm; Maksten, Eva Futtrup; Strandhave, Charlotte

    2015-01-01

    Background: Posttransplant lymphoproliferative disorder (PTLD) is a feared complication to organ transplantation, associated with substantial morbidity and inferior survival. Risk factors for PTLD include T cell–depleting induction therapy and primary infection or reactivation of Epstein-Barr virus....... Possible associations between certain HLA types and the risk of developing PTLD have been reported by other investigators; however, results are conflicting. Methods: We conducted a retrospective, population-based study on 4295 Danish solid organ transplant patients from the Scandiatransplant database...... can be clinically useful after transplantation in personalized monitoring schemes. Given the strong linkage disequilibrium in the HLA region, the associations must be interpreted carefully. The large size, virtually complete ascertainment of cases and no loss to follow-up remain important strengths...

  2. Efficacy of Low-Dose Protocol in Follow-Up of Lymphoproliferative Disorders - Preliminary Results

    International Nuclear Information System (INIS)

    Popic-Ramac, J.; Brnic, Z.; Klasic, B.; Hebrang, A.; Knezevic, Z.

    2011-01-01

    Most medically-related radiation is caused by diagnostic examinations, in particular by computed tomography (CT). The purpose of this research is to reduce radiation doses faced by the population frequently exposed to such procedures-those with lymphoproliferative disorders. The research was conducted comparing radiation-exposition doses received by the radiosensitive organs (thyroid, lens, breast and gonad) using the standard thoracic CT protocol with the radiation received using the low-dose protocol, while maintaining display quality. The standard-dose thoracic protocol implies 120 kV and 150 mAs. The low-dose protocol was conducted on the same device using 120 kV and 30 mAs. We confirmed the hypothesis that the use of the low-dose thoracic CT protocol leads to a reduction in radiation dose without compromising display quality. It is further expected that a reduction in doses will reduce the risk of radiation-related mutations. (author)

  3. Diagnosis of post-transplant lymphoproliferative disorder in solid organ transplant recipients - BCSH and BTS Guidelines.

    Science.gov (United States)

    Parker, Anne; Bowles, Kristin; Bradley, J Andrew; Emery, Vincent; Featherstone, Carrie; Gupte, Girish; Marcus, Robert; Parameshwar, Jayan; Ramsay, Alan; Newstead, Charles

    2010-06-01

    A joint working group established by the Haemato-oncology subgroup of the British Committee for Standards in Haematology (BCSH) and the British Transplantation Society (BTS) has reviewed the available literature and made recommendations for the diagnosis and management of post-transplant lymphoproliferative disorder (PTLD) in adult recipients of solid organ transplants. This review details the risk factors predisposing to development, initial features and diagnosis. It is important that the risk of developing PTLD is considered when using post transplant immunosuppression and that the appropriate investigations are carried out when there are suspicions of the diagnosis. These must include tissue for histology and computed tomography scan to assess the extent of disease. These recommendations have been made primarily for adult patients, there have been some comments made with regard to paediatric practice.

  4. EBV-Associated Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis in a Patient with Severe Celiac Disease

    Directory of Open Access Journals (Sweden)

    John Jacob Kinross-Wright

    2018-01-01

    Full Text Available Background. Epstein-Barr virus- (EBV- associated lymphoproliferative disease (LPD is a rare condition, usually occurring in immunocompromised patients. We report a case of EBV-associated LPD in a patient with severe celiac disease, the first report to describe this syndrome in a patient with this diagnosis. Case Summary. A 69-year-old Caucasian woman with recent diagnosis of celiac sprue presented to our hospital with persistent diarrhea, abdominal pain, weight loss, and fatigue despite adherence to gluten-free diet for a number of weeks prior to presentation. She underwent evaluation for occult malignancy and was found to have diffuse intra-abdominal mesenteric lymphadenopathy on CT scan. Biopsy of mesenteric nodes revealed an EBV positive, CD20 positive mixed lymphoproliferative process with T-cell predominance, but without a monoclonal cell population felt to be consistent with EBV-associated LPD. Bone marrow biopsy revealed hemophagocytic lymphohistiocytosis, complicating her course. She was treated with steroids and rituximab but continued to decline, eventually developing MSSA bacteremia and succumbing to her disease. Conclusion. To our knowledge, this is the first report of the constellation of celiac sprue, EBV-associated LPD, and hemophagocytic lymphohistiocytosis. Providers caring for patients with severe, uncontrolled celiac disease and adenopathy should consider EBV-associated LPD.

  5. Small intestinal involvement by lymphoproliferative disorders post-renal transplantation: A report from the post-transplant lymphoproliferative disorder international survey

    Directory of Open Access Journals (Sweden)

    Hossein Khedmat

    2013-01-01

    Full Text Available In this study, data on post-renal transplant lymphoproliferative disorders (PTLD collected from the existing literature were pooled and analyzed to compare the characteristics, predictors and prognosis of small intestinal PTLDs. We performed a comprehensive search for the available data by Pubmed and Google scholar search engines for reports on this subject. Data from 18 previously published studies, comprising 120 renal allograft recipients, were included in the analysis. Renal transplant recipients with intestinal PTLD were significantly less likely to have Hogkin′s and Hogkin′s-like lesions (P = 0.044 and to be younger at the time of transplan-tation (P = 0.07. Except for Hodgkin′s-like lesions, histopathological evaluations elsewhere were comparable between the group with PTLD in the small intestine and age- and sex-matched renal transplant recipients with PTLD in other sites. The overall mortality was relatively higher in the control group (P = 0.09. When death only due to PTLD was used as the outcome, a trend toward better outcome was seen for the intestinal PTLD group compared with the other localizations (P = 0.1. The 1- and 5-year survival rates for intestinal PTLD patients were 57% and 37%, respectively, compared with 54% and 21%, respectively, for the control group. According to our findings based on analysis of international data, renal transplant patients with small intestinal PTLD are more likely to be of younger age but less frequently represent Hodgkin′s and Hodgkin′s-like lesions. They also have better patient survival compared with transplant recipients with PTLD in other locations. Further multi-center prospective studies are needed to confirm our results.

  6. Post-transplant lymphoproliferative disorder in the pelvis successfully treated with consolidative radiotherapy

    Energy Technology Data Exchange (ETDEWEB)

    Habibeh, Omar; Elsayad, Khaled; Kriz, Jan; Haverkamp, Uwe; Eich, Hans Theodor [University Hospital of Muenster, Department of Radiation Oncology, Muenster (Germany)

    2017-01-15

    Post-transplant lymphoproliferative disorders (PTLDs) are aggressive malignancies which represent one of the major post-transplant complications. However, treatment options vary significantly and localized disease may be curatively treated with radiotherapy (RT) or surgery. We report a case of recurrent rectal PTLD, which was successfully treated by chemoimmunotherapy followed by RT. We describe a patient who developed a rectal lymphoproliferative lesion 11 years after kidney transplant, which was successfully treated with consolidative RT using 25.4 Gy sequential to chemoimmunotherapy (R-CHOP). RT was well tolerated and the patient showed no signs of grade 3 or 4 toxicity. This patient is free of recurrence 52 months after RT, with an overall survival of 62 months since diagnosis. Conventionally fractionated moderate-dose RT appears to be a tolerable and effective treatment option for localized PTLD if a sufficient systemic treatment cannot be applied. (orig.) [German] Posttransplantationslymphoproliferative Erkrankungen (PTLDs) sind eine haeufige Komplikation nach einer Organtransplantation. Nichtdestotrotz unterscheiden sich die Behandlungsmoeglichkeiten signifikant und vor allem lokalisierte Stadien koennen kurativ entweder mit Strahlentherapie (RT) und/oder Operation behandelt werden. Wir berichten ueber einen Fall einer rezidivierten rektalen PTLD, die erfolgreich mit einer Chemoimmuntherapie mit anschliessender RT behandelt wurde. Wir beschreiben einen Patienten der 11 Jahre nach einer Nierentransplantation eine PTLD entwickelte. Diese wurde erfolgreich mit konsolidierender RT (25,4 Gy) im Anschluss an eine Chemoimmuntherapie (R-CHOP) behandelt. Die RT wurde komplikationslos vertragen und es zeigten sich keine Nebenwirkungen. Das rezidivfreie Ueberleben betrug zum Zeitpunkt der letzten Nachsorgeuntersuchung 52 Monate mit einer Gesamtueberlebenszeit von 62 Monaten seit der Diagnose. Die konventionelle fraktionierte moderat dosierte RT scheint eine gut

  7. Associations among Epstein-Barr virus subtypes, human leukocyte antigen class I alleles, and the development of posttransplantation lymphoproliferative disorder in bone marrow transplant recipients

    NARCIS (Netherlands)

    Görzer, Irene; Puchhammer-Stöckl, Elisabeth; van Esser, Joost W J; Niesters, Hubert G M; Cornelissen, Jan J

    2007-01-01

    The association between Epstein-Barr virus subtype, human leukocyte antigen class I alleles, and the development of posttransplantation lymphoproliferative disorder was examined in a group of 25 bone marrow transplant recipients. A highly statistically significant correlation was observed between

  8. Molecular Pathogenesis of B-Cell Posttransplant Lymphoproliferative Disorder: What Do We Know So Far?

    Directory of Open Access Journals (Sweden)

    J. Morscio

    2013-01-01

    Full Text Available Posttransplant lymphoproliferative disorder (PTLD is a potentially fatal disease that arises in 2%–10% of solid organ and hematopoietic stem cell transplants and is most frequently of B-cell origin. This very heterogeneous disorder ranges from benign lymphoproliferations to malignant lymphomas, and despite the clear association with Epstein-Barr Virus (EBV infection, its etiology is still obscure. Although a number of risk factors have been identified (EBV serostatus, graft type, and immunosuppressive regimen, it is currently not possible to predict which transplant patient will eventually develop PTLD. Genetic studies have linked translocations (involving C-MYC, IGH, BCL-2, various copy number variations, DNA mutations (PIM1, PAX5, C-MYC, RhoH/TTF, and polymorphisms in both the host (IFN-gamma, IL-10, TGF-beta, HLA and the EBV genome to B-cell PTLD development. Furthermore, the tumor microenvironment seems to play an important role in the course of disease representing a local niche that can allow antitumor immune responses even in an immunocompromised host. Taken together, B-cell PTLD pathogenesis is very complex due to the interplay of many different (patient-dependent factors and requires thorough molecular analysis for the development of novel tailored therapies. This review aims at giving a global overview of the currently known parameters that contribute to the development of B-cell PTLD.

  9. CD30-Positive T-Cell Lymphoproliferative Disease of the Oral Mucosa in Children: A Manifestation of Epstein-Barr Virus-Associated T-Lymphoproliferative Disorder.

    Science.gov (United States)

    Hong, Mineui; Ko, Young Hyeh

    2015-11-01

    Eosinophilic ulcer of the oral mucosa (EUOM) is a very rare, benign, self-limiting ulcerative lesion of the oral cavity of unknown pathogenesis, and belongs to the same spectrum of CD30(+) T-cell lymphoproliferative disease (LPD) of the oral mucosa. The etiology and pathogenesis of the disease are unknown. We report two cases in children who were initially diagnosed with EUOM and CD30(+) T-cell LPD, respectively. However, retrospective analysis revealed that a majority of infiltrated atypical T cells were positive for Epstein-Barr virus (EBV). The present cases suggest that the pathogenesis and etiology of EUOM or CD30(+) T-cell LPD occurring in children are different from those in adults. EUOM or CD30(+) T-cell LPD in children is a manifestation of EBV-positive T-cell LPD, and should therefore be distinguished from the disease in adults.

  10. Development of an Epstein-Barr virus-associated lymphoproliferative disorder in a patient treated with azacitidine for chronic myelomonocytic leukaemia.

    Science.gov (United States)

    Menter, T; Schlageter, M; Bastian, L; Haberthür, R; Rätz Bravo, A E; Tzankov, A

    2014-03-01

    Some chemotherapeutic agents can cause iatrogenic lymphoproliferative disorders. In analogy to what has been observed with other nucleoside analogues such as cladribine and fludarabine, we document the first case of an Epstein-Barr virus-positive, iatrogenic immunodeficiency-associated, lymphoproliferative disease, formally resembling polymorphic post-transplant lymphoproliferative disease in a patient treated with azacitidine (Vidaza) for chronic myelomonocytic leukaemia (CMML). A 78-year-old female patient was diagnosed with CMML in January 2012, and treatment with azacitidine was initiated, which lasted for five cycles from February until June 2012. The patient was hospitalized in June 2012 under the suspicion of pneumonia. Transformation of the CMML was suspected at that time too. During hospitalization, a generalized enlargement of the lymph nodes and the spleen was noticed. The patient rapidly deteriorated and finally died of respiratory insufficiency. At autopsy, an Epstein-Barr virus-associated lymphoproliferative disorder, resembling polymorphic post-transplant lymphoproliferative disease with involvement of the lymph nodes, the spleen and the lung and causing necrotizing pneumonia, was diagnosed. Diagnostic criteria for diffuse large B-cell lymphoma or infectious mononucleosis-like lymphoproliferative disease were not met. This is the first documented case of an azacitidine-associated lymphoproliferative disease, raising awareness for possible not yet known side effects of this drug, which should be kept in mind by oncologists and pathologists. Copyright © 2013 John Wiley & Sons, Ltd.

  11. Epstein-Barr Virus-associated lymphoproliferative disorders: experimental and clinical developments

    Science.gov (United States)

    Geng, Lingyun; Wang, Xin

    2015-01-01

    Epstein-Barr Virus (EBV), the first human virus related to oncogenesis, was initially identified in a Burkitt lymphoma cell line in 1964. EBV infects over 90% of the world’s population. Most infected people maintain an asymptomatic but persistent EBV infection lifelong. However, in some individuals, EBV infection has been involved in the development of cancer and autoimmune disease. Nowadays, oncogenic potential of EBV has been intensively studied in a wide range of human neoplasms, including Hodgkin’s lymphoma (HL), non-Hodgkin’s lymphoma (NHL), nasopharyngeal carcinoma (NPC), gastric carcinoma (GC), etc. EBV encodes a series of viral protein and miRNAs, promoting its persistent infection and the transformation of EBV-infected cells. Although the exact role of EBV in the oncogenesis remains to be clarified, novel diagnostic and targeted therapeutic approaches are encouraging for the management of EBV-related malignancies. This review mainly focuses on the experimental and clinical advances of EBV-associated lymphoproliferative disorders. PMID:26628948

  12. Chemoimmunotherapy and withdrawal of immunosupression for monomorphic post-transplant lymphoproliferative disorders

    Science.gov (United States)

    Podoltsev, Nikolai; Zhang, Bingnan; Yao, Xiaopan; Bustillo, Ivan; Deng, Yanhong; Cooper, Dennis L.

    2013-01-01

    Introduction Monomorphic post-transplant lymphoproliferative disorders (PTLD) are the most aggressive type of PTLD occurring after solid organ transplantation (SOT). Current guidelines for treatment suggest a stepwise approach that includes a reduction of immunosuppression (RIS) with or without rituximab, followed by chemotherapy if there is no response. Nevertheless, recommendations regarding the extent and duration of RIS are non-standardized and RIS as an initial strategy may be associated with an unacceptably high frequency of graft loss and disease progression. Patients and Methods We reviewed the outcome of a combination program of aggressive chemo-immunotherapy and complete withdrawal of immunosuppression in treating 22 patients with monomorphic PTLD between January 1995 and August 2012. Results 12 of 22 patients (55%) received CHOP-R every 2 weeks (dose dense CHOP-R) and 10 patients received other doxorubicin-based regimens. There was no treatment related mortality (TRM). Complete response (CR) was seen in 91% of patients. Median overall survival was 9.61 years with 95% CI (5.21-10.74). Median progression free survival (PFS) was 5.39 years with 95% CI (2.10-10.74). The graft-rejection rate was 18% with 95% CI (0.03-0.34). Conclusion We conclude that the use of aggressive chemo-immunotherapy in combination with withdrawal of immunosuppression approach yields excellent results and should be prospectively studied in a multi-institutional setting. PMID:24035715

  13. Oncogenic Notch signaling in T-cell and B-cell lymphoproliferative disorders.

    Science.gov (United States)

    Chiang, Mark Y; Radojcic, Vedran; Maillard, Ivan

    2016-07-01

    This article highlights recent discoveries about Notch activation and its oncogenic functions in lymphoid malignancies, and discusses the therapeutic potential of Notch inhibition. NOTCH mutations arise in a broad spectrum of lymphoid malignancies and are increasingly scrutinized as putative therapeutic targets. In T-cell acute lymphoblastic leukemia (T-ALL), NOTCH1 mutations affect the extracellular negative regulatory region and lead to constitutive Notch activation, although mutated receptors remain sensitive to Notch ligands. Other NOTCH1 mutations in T-ALL and NOTCH1/2 mutations in multiple B-cell malignancies truncate the C-terminal proline (P), glutamic acid (E), serine (S), threonine (T)-rich (PEST) domain, leading to decreased Notch degradation after ligand-mediated activation. Thus, targeting Notch ligand-receptor interactions could provide therapeutic benefits. In addition, we discuss recent reports on clinical testing of Notch inhibitors in T-ALL that influenced contemporary thinking on the challenges of targeting Notch in cancer. We review advances in the laboratory to address these challenges in regards to drug targets, the Notch-driven metabolome, and the sophisticated protein-protein interactions at Notch-dependent superenhancers that underlie oncogenic Notch functions. Notch signaling is a recurrent oncogenic pathway in multiple T- and B-cell lymphoproliferative disorders. Understanding the complexity and consequences of Notch activation is critical to define optimal therapeutic strategies targeting the Notch pathway.

  14. Epstein-Barr virus load in transplant patients: Early detection of post-transplant lymphoproliferative disorders.

    Science.gov (United States)

    Fellner, María Dolores; Durand, Karina A; Solernou, Veronica; Bosaleh, Andrea; Balbarrey, Ziomara; García de Dávila, María T; Rodríguez, Marcelo; Irazu, Lucía; Alonio, Lidia V; Picconi, María A

    2016-01-01

    High levels of circulating EBV load are used as a marker of post-transplant lymphoproliferative disorders (PTLD). There is no consensus regarding the threshold level indicative of an increase in peripheral EBV DNA. The aim of the study was to clinically validate a developed EBV quantification assay for early PTLD detection. Transversal study: paired peripheral blood mononuclear cells (PBMC), plasma and oropharyngeal lymphoid tissue (OLT) from children undergoing a solid organ transplant with (n=58) and without (n=47) PTLD. Retrospective follow-up: 71 paired PBMC and plasma from recipients with (n=6) and without (n=6) PTLD history. EBV load was determined by real-time PCR. The diagnostic ability to detect all PTLD (categories 1-4), advanced PTLD (categories 2-4) or neoplastic PTLD (categories 3 and 4) was estimated by analyzing the test performance at different cut-off values or with a load variation greater than 0.5log units. The higher diagnostic performance for identifying all, advanced or neoplastic PTLD, was achieved with cut-off values of 1.08; 1.60 and 2.47log EBVgEq/10(5) PBMC or 2.30; 2.60; 4.47loggEq/10(5) OLT cells, respectively. EBV DNA detection in plasma showed high specificity but low (all categories) or high (advanced/neoplastic categories) sensitivity for PTLD identification. Diagnostic performance was greater when: (1) a load variation in PBMC or plasma was identified; (2) combining the measure of EBV load in PBMC and plasma. The best diagnostic ability to identify early PTLD stages was achieved by monitoring EBV load in PBMC and plasma simultaneously; an algorithm was proposed. Copyright © 2016 Asociación Argentina de Microbiología. Publicado por Elsevier España, S.L.U. All rights reserved.

  15. Usefullness of IGH/TCR PCR studies in lymphoproliferative disorders with inconclusive clonality by flow cytometry.

    Science.gov (United States)

    Ribera, Jordi; Zamora, Lurdes; Juncà, Jordi; Rodríguez, Inés; Marcé, Silvia; Cabezón, Marta; Millá, Fuensanta

    2013-07-25

    In up to 5-15% of studies of lymphoproliferative disorders (LPD) flow cytometry (FCM) or immunomorphologic methods cannot discriminate malignant from reactive processes. The aim of this work was to determine the usefulness of PCR for solving these diagnostic uncertainties. We analyzed IGH and TCRγ genes by PCR in 106 samples with inconclusive FCM results. A clonal result was registered in 36/106 studies, with a LPD being confirmed in 27 (75%) of these cases. Specifically, 9/9 IGH clonal and 16/25 TCRγ clonal results were finally diagnosed with LPD. Additionally, 2 clonal TCRγ samples with suspicion of undefined LPD were finally diagnosed with T LPD. Although polyclonal results were obtained in 47 of the cases studied (38 IGH and 9 TCRγ), hematologic neoplasms were diagnosed in 4/38 IGH polyclonal and in 1/9 TCRγ polyclonal studies. There were also 14 PCR polyclonal results (4 IGH, 10 TCRγ), albeit non-conclusive. Of these, 2/4 were eventually diagnosed with B-cell lymphoma and 3/10 with T-cell LPD. In 8 IGH samples the results of PCR techniques were non-informative but in 3/8 cases a B lymphoma was finally confirmed. We concluded that PCR is a useful technique to identify LPD when FCM is inconclusive. A PCR clonal B result is indicative of malignancy but IGH polyclonal and non-conclusive results do not exclude lymphoid neoplasms. Interpretation of T-cell clonality should be based on all the available clinical and analytical data. © 2013 Clinical Cytometry Society. Copyright © 2013 Clinical Cytometry Society.

  16. Management of post-transplant lymphoproliferative disorder in adult solid organ transplant recipients - BCSH and BTS Guidelines.

    Science.gov (United States)

    Parker, Anne; Bowles, Kristin; Bradley, J Andrew; Emery, Vincent; Featherstone, Carrie; Gupte, Girish; Marcus, Robert; Parameshwar, Jayan; Ramsay, Alan; Newstead, Charles

    2010-06-01

    A joint working group established by the Haemato-oncology subgroup of the British Committee for Standards in Haematology (BCSH) and the British Transplantation Society (BTS) has reviewed the available literature and made recommendations for the diagnosis and management of post-transplant lymphoproliferative disorder in adult recipients of solid organ transplants. This review details the therapeutic options recommended including reduction in immunosuppression (RIS), transplant organ resection, radiotherapy and chemotherapy. Effective therapy should be instituted before progressive disease results in declining performance status and multi-organ dysfunction. The goal of treatment should be a durable complete remission with retention of transplanted organ function with minimal toxicity.

  17. Two rare cases of Epstein-Barr virus-associated lymphoproliferative disorders in inflammatory bowel disease patients on thiopurines and other immunosuppressive medications.

    Science.gov (United States)

    Subramaniam, K; Cherian, M; Jain, S; Latimer, M; Corbett, M; D'Rozario, J; Pavli, P

    2013-12-01

    The setting of chronic immunosuppression in inflammatory bowel disease (IBD) may promote the proliferation of Epstein-Barr virus-positive neoplastic clones. We report two rare cases of Epstein-Barr virus-associated lymphoproliferative disorder in IBD patients: one resembled lymphomatoid granulomatosis, and the other was a lymphoma resembling Hodgkin lymphoma. There are currently no guidelines for the prevention of lymphoproliferative disorder in IBD patients on immunosuppressive therapy. © 2013 The Authors; Internal Medicine Journal © 2013 Royal Australasian College of Physicians.

  18. Notch-deficient skin induces a lethal systemic B-lymphoproliferative disorder by secreting TSLP, a sentinel for epidermal integrity.

    Directory of Open Access Journals (Sweden)

    Shadmehr Demehri

    2008-05-01

    Full Text Available Epidermal keratinocytes form a highly organized stratified epithelium and sustain a competent barrier function together with dermal and hematopoietic cells. The Notch signaling pathway is a critical regulator of epidermal integrity. Here, we show that keratinocyte-specific deletion of total Notch signaling triggered a severe systemic B-lymphoproliferative disorder, causing death. RBP-j is the DNA binding partner of Notch, but both RBP-j-dependent and independent Notch signaling were necessary for proper epidermal differentiation and lipid deposition. Loss of both pathways caused a persistent defect in skin differentiation/barrier formation. In response, high levels of thymic stromal lymphopoietin (TSLP were released into systemic circulation by Notch-deficient keratinocytes that failed to differentiate, starting in utero. Exposure to high TSLP levels during neonatal hematopoiesis resulted in drastic expansion of peripheral pre- and immature B-lymphocytes, causing B-lymphoproliferative disorder associated with major organ infiltration and subsequent death, a previously unappreciated systemic effect of TSLP. These observations demonstrate that local skin perturbations can drive a lethal systemic disease and have important implications for a wide range of humoral and autoimmune diseases with skin manifestations.

  19. Fine-needle aspiration biopsy of lymphoproliferative disorders--interpretations based on morphologic criteria alone: results from the College of American Pathologists Interlaboratory Comparison Program in Nongynecologic Cytopathology.

    Science.gov (United States)

    Young, Nancy A; Moriarty, Ann T; Haja, Jennifer C; Wilbur, David C

    2006-12-01

    Diagnosis of lymphoproliferative disorders is one of the most challenging tasks faced by the cytologist. The initial cytomorphologic evaluation of lymphoproliferative lesions directs the choice of ancillary studies that ultimately lead to a diagnosis based on the World Health Organization classification system using a composite of clinical, morphologic, immunophenotypic, and molecular features. To evaluate the ability of participating laboratories in the College of American Pathologists Interlaboratory Comparison Program in Non-Gynecologic Cytopathology to appropriately categorize lymphoproliferative lesions based solely on cytomorphologic criteria. Laboratory responses for lymph node aspirates were examined. All responses were based on review of glass slides without ancillary immunologic or molecular data available. The benchmarking data provided for each specific diagnosis were analyzed, with a focus on the performance for evaluation of lymphoproliferative lesions. Based on morphology alone, responses for lymph node aspirates in the Non-Gynecologic Cytopathology program were correct to the exact reference diagnosis for 87.1% of Hodgkin lymphoma. Non-Hodgkin lymphoma was identified in 69.5% of the large cell non-Hodgkin lymphoma cases, of which 66.8% were correctly classified as large cell type. Non-Hodgkin lymphoma was identified in 68.1% of non-Hodgkin lymphoma, other than large cell cases, and of these, 94.7% were identified as other than large cell type. The spectrum of specific responses was consistent for lymphoproliferative lesions, with a reasonable differential diagnosis based on cytomorphology alone, which, in practice, facilitates the appropriate choice of immunophenotypic markers and other ancillary studies.

  20. Hairy B-cell lymphoproliferative disorder and its differential diagnosis: a case with long-term follow-up

    Directory of Open Access Journals (Sweden)

    Kensuke Matsuda

    2017-09-01

    Full Text Available Hairy B-cell lymphoproliferative disorder (HBLD is one of chronic polyclonal B-cell lymphocytosis. We report a 47-year-old female Japanese patient diagnosed as having HBLD based on lymphocytosis with hairy cell appearance and characteristic phenotypes including CD11c+, and without B-cell monoclonalities. She was a non-smoker, and possessed HLA-DR4. She has been closely followed up without treatment and lymphoma development for over five years. Although this disease is quite rare and has been reported, to our knowledge, in only 13 Japanese cases, an accurate diagnosis, particularly differential diagnosis from persistent polyclonal B-cell lymphocytosis or hairy cell leukemia-Japanese variant is essential for the prevention of unnecessary treatments.

  1. Minimal disease detection of B-cell lymphoproliferative disorders by flow cytometry: multidimensional cluster analysis.

    Science.gov (United States)

    Duque, Ricardo E

    2012-04-01

    Flow cytometric analysis of cell suspensions involves the sequential 'registration' of intrinsic and extrinsic parameters of thousands of cells in list mode files. Thus, it is almost irresistible to describe phenomena in numerical terms or by 'ratios' that have the appearance of 'accuracy' due to the presence of numbers obtained from thousands of cells. The concepts involved in the detection and characterization of B cell lymphoproliferative processes are revisited in this paper by identifying parameters that, when analyzed appropriately, are both necessary and sufficient. The neoplastic process (cluster) can be visualized easily because the parameters that distinguish it form a cluster in multidimensional space that is unique and distinguishable from neighboring clusters that are not of diagnostic interest but serve to provide a background. For B cell neoplasia it is operationally necessary to identify the multidimensional space occupied by a cluster whose kappa:lambda ratio is 100:0 or 0:100. Thus, the concept of kappa:lambda ratio is without meaning and would not detect B cell neoplasia in an unacceptably high number of cases.

  2. Preventing acute rejection, Epstein-Barr virus infection, and posttransplant lymphoproliferative disorders after kidney transplantation: Use of aciclovir and mycophenolate mofetil in a steroid-free immunosuppressive protocol

    DEFF Research Database (Denmark)

    Birkeland, S.A.; Andersen, H.K.; Hamilton-Dutoit, Stephen Jacques

    1999-01-01

    Background: A widely held view is that any increase in the potency of an immunosuppressive agent will lead to an increase in infection and malignancy, such as life-threatening Epstein-Barr virus (EBV) induced posttransplant lymphoproliferative disorders (PTLD), We tested this paradigm by studying...... or reactivated EBV infection (PREBV) was correlated to acute rejection (treated with OKT3; Pdisease is included); (2) aciclovir protected against PREBV (P

  3. Partial Least Squares Based Gene Expression Analysis in EBV- Positive and EBV-Negative Posttransplant Lymphoproliferative Disorders.

    Science.gov (United States)

    Wu, Sa; Zhang, Xin; Li, Zhi-Ming; Shi, Yan-Xia; Huang, Jia-Jia; Xia, Yi; Yang, Hang; Jiang, Wen-Qi

    2013-01-01

    Post-transplant lymphoproliferative disorder (PTLD) is a common complication of therapeutic immunosuppression after organ transplantation. Gene expression profile facilitates the identification of biological difference between Epstein-Barr virus (EBV) positive and negative PTLDs. Previous studies mainly implemented variance/regression analysis without considering unaccounted array specific factors. The aim of this study is to investigate the gene expression difference between EBV positive and negative PTLDs through partial least squares (PLS) based analysis. With a microarray data set from the Gene Expression Omnibus database, we performed PLS based analysis. We acquired 1188 differentially expressed genes. Pathway and Gene Ontology enrichment analysis identified significantly over-representation of dysregulated genes in immune response and cancer related biological processes. Network analysis identified three hub genes with degrees higher than 15, including CREBBP, ATXN1, and PML. Proteins encoded by CREBBP and PML have been reported to be interact with EBV before. Our findings shed light on expression distinction of EBV positive and negative PTLDs with the hope to offer theoretical support for future therapeutic study.

  4. Post-Transplant Lymphoproliferative Disorder (PTLD) Manifesting in the Oral Cavity of a 13-Year-Old Liver Transplant Recipient (LTx).

    Science.gov (United States)

    Krasuska-Sławińska, Ewa; Minko-Chojnowska, Izabela; Pawłowska, Joanna; Dembowska-Bagińska, Bożenna; Pronicki, Maciej; Olczak-Kowalczyk, Dorota

    2015-08-18

    BACKGROUND Post-transplant lymphoproliferative disorder (PTLD) is a potential complication of solid organ or bone marrow transplants. The main PTLD risk factors are: the Epstein-Barr virus (EBV), transplant type, and use of immunosuppressants. It mainly consists of an uncontrolled growth of lymphocytes in transplant recipients under chronic immunosuppressive therapy. About 85% of PTLDs are EBV-containing B-cell proliferations; 14% are T-cell proliferations, of which only 40% contain EBV; and the remaining 1% is NK-cell or plasmocyte proliferations. PTLD may present various clinical manifestations, from non-specific mononucleosis-like syndrome to graft or other organ damage resulting from pathologic lymphocyte infiltration. PTLD may manifest in the oral cavity. CASE REPORT The objective of this study was to present the case of a 13-year-old female living-donor liver transplant recipient, resulting from biliary cirrhosis caused by congenital biliary atresia, with exophytic fibrous lesions on buccal mucosa and tongue. Exophytic and hyperplastic lesion of oral mucosa were removed and histopathological examination revealed polymorphic PTLD. The patient underwent 6 cycles of CHOP chemotherapy and all the oral lesions regressed completely. CONCLUSIONS All oral pathological lesions in organ transplant recipients need to be surgically removed and histopathologically examined because they present an increased risk of neoplastic transformations such as PTLD.

  5. Mapping the x-linked lymphoproliferative syndrome

    International Nuclear Information System (INIS)

    Skare, J.C.; Milunsky, A.; Byron, K.S.; Sullivan, J.L.

    1987-01-01

    The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally

  6. Mapping the x-linked lymphoproliferative syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Skare, J.C.; Milunsky, A.; Byron, K.S.; Sullivan, J.L.

    1987-04-01

    The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally.

  7. Early Gastric Post-Transplant Lymphoproliferative Disorder and H pylori Detection after Kidney Transplantation: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    CL Nash

    2000-01-01

    Full Text Available The incidence of post-transplantation lymphoproliferative disorder (PTLD in the adult renal transplant population ranges from 0.7% to 4%. The majority of cases involve a single site and arise, on average, seven months after transplantation. Histopathology usually reveals B-cell proliferative disease and has been standardized into its own classification. Treatment modalities consist of decreased immunosuppression, eradication of Epstein-Barr virus, surgical resection, systemic chemotherapy and monoclonal antibody therapy; however, mortality remains high, typically with a short survival time. In patients who have undergone renal transplantation, approximately 10% of those with PTLDs present with gastrointestinal symptomatology and disease. Reported sites include the stomach, and small and large bowel. Very few cases of Helicobacter pylori or mucosal-associated lymphoid tissue have been described in association with PTLD. In the era of cyclosporine immunosuppression, the incidence of PTLD affecting the gastrointestinal tract may be increasing in comparison with the incidence seen with the use of older immunosuppression regimens. A case of antral PTLD and H pylori infection occurring three months after renal transplantation is presented, and the natural history and management of gastric PTLD are reviewed.

  8. Epstein-Barr Virus-Positive Extranodal Marginal Zone Lymphoma of Bronchial-Associated Lymphoid Tissue in the Posttransplant Setting: An Immunodeficiency-Related (Posttransplant) Lymphoproliferative Disorder?

    Science.gov (United States)

    Cassidy, Daniel P; Vega, Francisco; Chapman, Jennifer R

    2017-12-20

    Posttransplant lymphoproliferative disorders (PTLDs) are a heterogeneous group of hematolymphoid proliferations arising in the context of chronic immunosuppression. The common and indolent B-cell lymphomas, including extranodal marginal zone lymphomas (ENMZLs) of mucosa-associated lymphoid tissue (MALT), are excluded from the category of PTLD in the current World Health Organization classification. We report a case of Epstein-Barr virus (EBV)-positive bronchial-associated lymphoid tissue (BALT) lymphoma involving the lungs of a transplant patient. Aside from history of cardiac transplant, young patient age, and EBV positivity, the histopathologic findings were indistinguishable from usual BALT lymphoma. We review the literature of ENMZL occurring in immunocompromised patients and present this case for consideration that this specific entity is a PTLD. We believe that additional studies might lend strength to the hypothesis that this particular group of EBV-positive, posttransplant ENMZLs merits classification and management as PTLDs. © American Society for Clinical Pathology, 2017. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

  9. POST-TRANSPLANT LYMPHOPROLIFERATIVE DISORDERS: ROLE OF VIRAL INFECTION, GENETIC LESIONS AND ANTIGEN STIMULATION IN THE PATHOGENESIS OF THE DISEASE

    Directory of Open Access Journals (Sweden)

    Daniela Capello

    2009-11-01

    Full Text Available Post-transplant lymphoproliferative disorders (PTLD are a life-threatening complication of solid organ transplantation or, more rarely, hematopoietic stem cell transplantation. The majority of PTLD is of B-cell origin and associated with Epstein–Barr virus (EBV infection. PTLD generally display involvement of extranodal sites, aggressive histology and aggressive clinical behavior. The molecular pathogenesis of PTLD involves infection by oncogenic viruses, namely Epstein-Barr virus, as well as genetic or epigenetic alterations of several cellular genes. At variance with lymphoma arising in immunocompetent hosts, whose genome is relatively stable, a fraction of PTLD are characterized by microsatellite instability as a consequence of defects in the DNA mismatch repair mechanism. Apart from microsatellite instability, molecular alterations of cellular genes recognized in PTLD include alterations of cMYC, BCL6, TP53, DNA hypermethylation, and aberrant somatic hypermutation of protooncogenes. The occurrence of IGV mutations in the overwhelming majority of PTLD documents that malignant transformation targets germinal centre (GC B-cells and their descendants both in EBV–positive and EBV–negative cases. Analysis of phenotypic markers of B-cell histogenesis, namely BCL6, MUM1 and CD138, allows further distinction of PTLD histogenetic categories. PTLD expressing the BCL6+/MUM1+/-/CD138- profile reflect B-cells actively experiencing the GC reaction, and comprise diffuse large B-cell lymphoma (DLBCL centroblastic and Burkitt lymphoma. PTLD expressing the BCL6-/MUM1+/CD138- phenotype putatively derive from B-cells that have concluded the GC reaction, and comprise the majority of polymorphic PTLD and a fraction of DLBCL immunoblastic. A third group of PTLD is reminiscent of post-GC and preterminally differentiated B-cells that show the BCL6-/MUM1+/CD138+ phenotype, and are morphologically represented by either polymorphic PTLD or DLBCL immunoblastic.

  10. Preliminary experience on the use of PET/CT in the management of pediatric post-transplant lymphoproliferative disorder.

    Science.gov (United States)

    Guerra-García, Pilar; Hirsch, Steffen; Levine, Daniel S; Taj, Mary M

    2017-12-01

    Post-transplant lymphoproliferative disorder (PTLD) is a well-known complication following prolonged immunosuppression. Contrary to other lymphomas, there is no standardized imaging approach to assess PTLD either at staging or for response to therapy. Positron emission tomography/computed tomography (PET/CT) is an imaging modality that has proven to be useful in lymphoma. However, there is still limited data concerning its use in pediatric PTLD. Our study evaluates the use of PET/CT in pediatric PTLD at our institution. To assess the role of PET/CT in pediatric PTLD, we reviewed the pediatric patients with PTLD who had undergone PET/CT at our institution between 2000 and 2016. Nine patients were identified. Six had PET/CT at diagnosis. All lesions seen on CT were identified with PET/CT. Fourteen PET/CTs were done during treatment. Eight PET/CTs were negative, including three where CT showed areas of uncertain significance. In these cases, PET/CT helped us to stop treatment and the patients remain in remission after a long follow-up (mean 74.3 months; range 12.4-180.9 months). PET/CT revealed additional disease in two cases, therefore treatment was intensified. Six biopsies and close follow-up was done to confirm PET/CT results. In one case, PET/CT did not identify central nervous system involvement demonstrated on magnetic resonance imaging. PET/CT may have an important role in the staging and follow-up of pediatric PTLD. In our cohort, PET/CT was helpful in staging and assessing treatment response and in clarifying equivocal findings on other imaging modalities. © 2017 Wiley Periodicals, Inc.

  11. Favorable outcome of Epstein-Barr virus-associated B-cell lymphoproliferative disorder complicated by immunoglobulin G4-related disease treated with rituximab-based therapy: a case report.

    Science.gov (United States)

    Ueda, Koki; Ikeda, Kazuhiko; Ogawa, Kazuei; Sukegawa, Masumi; Sano, Takahiro; Kimura, Satoshi; Suzuki, Osamu; Hashimoto, Yuko; Takeishi, Yasuchika

    2016-08-24

    After acute infection of Epstein-Barr virus, Epstein-Barr virus-infected B cells survive but usually do not show clonal proliferation. However, Epstein-Barr virus-infected B cells occasionally acquire a proliferative capacity that provokes clonal lymphoproliferative disorders. We herein present a case with Epstein-Barr virus-infected CD30+ B cell and immunoglobulin G4+ plasmacytoid cell proliferation in the lymph nodes, suggesting a pathological and clinical interaction between Epstein-Barr virus-associated B-cell lymphoproliferative disorders and immunoglobulin G4-related disease. Immunoglobulin G4-related disease has been recognized as a benign disease with proliferation of IgG4-related disease+ plasmacytoid cells. Several studies have recently reported the coexistence of immunoglobulin G4-related disease+ plasmacytoid cells with Epstein-Barr virus-infected B cells in lymph nodes in some immunoglobulin G4-related disease cases. However, the pathogenic role of the clonal proliferation of Epstein-Barr virus-infected B cells in immunoglobulin G4-related disease, as well as the treatments for patients with both Epstein-Barr virus-infected B cells and immunoglobulin G4-related disease, have never been discussed. A 50-year-old Japanese man was referred to us for persistent fatigue and lymphadenopathy. His blood examination showed elevated IgG4, and detected high levels of Epstein-Barr virus DNA. A lymph node biopsy revealed IgG4+ plasmacytoid cells and infiltration of large lymphoid cells, which were positive for CD20, CD30, Epstein-Barr virus-related late membrane protein 1, and Epstein-Barr virus-encoded RNA, and were negative for IgG4. Based on the diagnosis of both Epstein-Barr virus-associated B-cell lymphoproliferative disorder and IgG4-related disease, the patient received eight cycles of rituximab combined with cyclophosphamide and prednisolone, which resulted in the complete disappearance of lymphadenopathy. Moreover, his serum IgG4 level was significantly

  12. Preventing acute rejection, Epstein-Barr virus infection, and posttransplant lymphoproliferative disorders after kidney transplantation: Use of aciclovir and mycophenolate mofetil in a steroid-free immunosuppressive protocol

    DEFF Research Database (Denmark)

    Birkeland, S.A.; Andersen, H.K.; Hamilton-Dutoit, Stephen Jacques

    1999-01-01

    Background: A widely held view is that any increase in the potency of an immunosuppressive agent will lead to an increase in infection and malignancy, such as life-threatening Epstein-Barr virus (EBV) induced posttransplant lymphoproliferative disorders (PTLD), We tested this paradigm by studying......; the effect of adding mofetil to a steroid-free protocol under cover of high-dose aciclovir prophylaxis on the number of acute rejections, EBV infections and PTLDs after kidney transplantation. Methods: EBV serology was performed in 267 consecutive renal transplantations (1990-1997), All were treated...

  13. Spectrum and immunophenotyping of 653 patients with B-cell chronic lymphoproliferative disorders in China: A single-centre analysis.

    Science.gov (United States)

    Miao, Yi; Cao, Lei; Sun, Qian; Li, Xiao-Tong; Wang, Yan; Qiao, Chun; Wang, Li; Wang, Rong; Qiu, Hai-Rong; Xu, Wei; Li, Jian-Yong; Wu, Yu-Jie; Fan, Lei

    2018-02-01

    The incidence of B-cell chronic lymphoproliferative disorders (B-CLPDs) is significantly lower in China than that in western countries. There have been studies involving small cohorts with conflicting results regarding the spectrum of B-CLPDs in China, and the types and immunophenotyping of B-CLPDs in China remain largely unexplored. We conducted a retrospective analysis of 653 cases of B-CLPDs seen in our centre from 2011 to 2015. Four-colour flow cytometry was used to determine the expression of each immunological marker, and the diagnostic values of the immunological markers were also investigated. Chronic lymphocytic leukaemia (CLL) was the most common type of B-CLPD, which was consistent with that in west countries. However, the proportions of CLL (55.9%), follicular lymphoma (2.6%), and hairy cell leukaemia (0.2%) were lower, while the proportion of lymphoplasmacytic lymphoma/WaldenstrÖm macroglobulinaemia (5.4%) was higher in China, as compared with western countries. With respect to immunophenotypic characteristics, CD23 (31.7%) was more frequently expressed in mantle cell lymphoma (MCL) in our cohort than that in western countries. Immunophenotyping was useful in differentiating MCL from CLL or B-cell prolymphocytic leukaemia and lymphoplasmacytic lymphoma/WaldenstrÖm macroglobulinaemia from splenic marginal zone lymphoma. CD200 was of better diagnostic performance (accuracy: 94.6%) in differentiating CLL from MCL compared with CD23 (accuracy: 93.3%). Some cases of B-CPLDs, however, had no definite diagnoses, which were diagnosed as CD5 + B-CPLDs unclassified (7.7%) and CD5 - B-CPLDs unclassified (15.8%). This is the largest study that systematically explores the spectrum and immunophenotyping of B-CLPDs in Asia, confirming that spectrum of B-CLPDs in China was different from that in western countries. The immunophenotypic features of B-CLPDs were similar between China and western countries, although a few disparities exist. Cases with no definite

  14. POST-TRANSPLANT LYMPHOPROLIFERATIVE DISORDERS: ROLE OF VIRAL INFECTION, GENETIC LESIONS AND ANTIGEN STIMULATION IN THE PATHOGENESIS OF THE DISEASE

    Directory of Open Access Journals (Sweden)

    Gianluca Gaidano

    2009-11-01

    Full Text Available

    Post-transplant lymphoproliferative disorders (PTLD are a life-threatening complication of solid organ transplantation or, more rarely, hematopoietic stem cell transplantation. The majority of PTLD is of B-cell origin and associated with Epstein–Barr virus (EBV infection. PTLD generally display involvement of extranodal sites, aggressive histology and aggressive clinical behavior. The molecular pathogenesis of PTLD involves infection by oncogenic viruses, namely Epstein-Barr virus, as well as genetic or epigenetic alterations of several cellular genes. At variance with lymphoma arising in immunocompetent hosts, whose genome is relatively stable, a fraction of PTLD are characterized by microsatellite instability as a consequence of defects in the DNA mismatch repair mechanism. Apart from microsatellite instability, molecular alterations of cellular genes recognized in PTLD include alterations of cMYC, BCL6, TP53, DNA hypermethylation, and aberrant somatic hypermutation of protooncogenes. The occurrence of IGV mutations in the overwhelming majority of PTLD documents that malignant transformation targets germinal centre (GC B-cells and their descendants both in EBV–positive and EBV–negative cases. Analysis of phenotypic markers of B-cell histogenesis, namely BCL6, MUM1 and CD138, allows further distinction of PTLD histogenetic categories. PTLD expressing the BCL6+/MUM1+/-/CD138- profile reflect B-cells actively experiencing the GC reaction, and comprise diffuse large B-cell lymphoma (DLBCL centroblastic and Burkitt lymphoma. PTLD expressing the BCL6-/MUM1+/CD138- phenotype putatively derive from B-cells that have concluded the GC reaction, and comprise the majority of polymorphic PTLD and a fraction of

  15. Facial manifestations of Epstein-Barr virus-related lymphoproliferative disease in childhood acute lymphoblastic leukemia in remission: Two atypical presentations.

    Science.gov (United States)

    Lu, Benjamin Y; Kojima, Lisa; Huang, Mary S; Friedmann, Alison M; Ferry, Judith A; Weinstein, Howard J

    2016-11-01

    Epstein-Barr virus-related lymphoproliferative disease (EBV-LPD) rarely occurs in patients with acute lymphoblastic leukemia (ALL), who have not received hematopoietic transplantation. We describe EBV-LPD manifesting as facial lesions in two children with ALL in remission. One patient was a 16-year-old male with T-cell ALL with an EBV-positive angiocentric polymorphous lip lesion presenting as right-sided facial swelling. The other patient was a 12-year-old male with B-cell ALL with an EBV-positive polymorphous lymphoplasmacytic infiltrate presenting as bilateral dacryoadenitis. Neither patient had known primary immunodeficiencies. Both cases improved with immunosuppressant de-escalation. These cases suggest that immunosuppression induced by maintenance chemotherapy is sufficient to promote EBV-LPD. © 2016 Wiley Periodicals, Inc.

  16. Outpatient management of steroid-induced hyperglycaemia and steroid-induced diabetes in people with lymphoproliferative disorders treated with intermittent high dose steroids

    Directory of Open Access Journals (Sweden)

    Jennifer Vidler

    2017-09-01

    Eighty-three people were diagnosed with a lymphoproliferative disorder, of whom 6 had known Type 2 diabetes. Fifty-three people without known diabetes were screened by HbA1c and random venous plasma glucose. All patients (n = 34 subsequently prescribed HDS checked capillary blood glucose (CBG pre-breakfast and pre-evening meal. Treatment algorithms used initiation and/or dose titration of gliclazide or human NPH insulin, aiming for pre-meal CBG 5–11 mmol/l. Type 2 diabetes was identified in 4/53 people screened (7.5%. Of 34 people treated with HDS, 17 (44% developed SIH/SID. All 7 people with Type 2 diabetes developed SIH and 3 required insulin. Of 27 people without known diabetes, 8 (30% developed SID and 1 required insulin. Pre-treatment HbA1c was higher in people who developed SID compared to those that did not (p = 0.002. This is the first report of a SID/SIH detection and treatment protocol for use in people with lymphoproliferative disorders receiving intermittent HDS, demonstrating its feasibility and safety.

  17. Orbital benign and malignant lymphoproliferative disorders: Differentiation using semi-quantitative and quantitative analysis of dynamic contrast-enhanced magnetic resonance imaging

    International Nuclear Information System (INIS)

    Hu, Hao; Xu, Xiao-Quan; Liu, Hu; Hong, Xun-Ning; Shi, Hai-Bin; Wu, Fei-Yun

    2017-01-01

    Objectives: To assess the value of dynamic contrast-enhanced MR imaging (DCE-MRI) in differentiating benign from malignant orbital lymphoproliferative disorders (OLPDs). Methods: Thirty-nine patients with orbital lymphoproliferative disorders (21 malignant and 18 benign) underwent DCE-MRI scan for pre-treatment evaluation from March 2013 to December 2015. Both semi-quantitative (TTP, AUC, Slope max ) and quantitative (K trans , k ep , v e ) parameters were calculated, and compared between two groups. Receiver operating characteristic (ROC) curve analyses were used to determine the diagnostic value of each significant parameter. Results: Malignant OLPDs showed significantly higher k ep , lower v e , and lower AUC than benign OLPDs, while no significant differences were found on K trans , TTP and Slope max . ROC analyses indicated that v e exhibited the best diagnostic performance in predicting malignant OLPDs (cutoff value, 0.211; area under the curve, 0.896; sensitivity, 76.2%; specificity, 94.9%), followed by k ep (cutoff value, 0.853; area under the curve, 0.839; sensitivity, 85.7%; specificity, 89.9%). Conclusion: DCE-MRI and specially its derived quantitative parameters of k ep and v e are promising metrics for differentiating malignant from benign OLPDs.

  18. Orbital benign and malignant lymphoproliferative disorders: Differentiation using semi-quantitative and quantitative analysis of dynamic contrast-enhanced magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Hu, Hao; Xu, Xiao-Quan [Department of Radiology, First Affiliated Hospital of Nanjing Medical University, Nanjing (China); Liu, Hu [Department of Ophthalmology, First Affiliated Hospital of Nanjing Medical University, Nanjing (China); Hong, Xun-Ning; Shi, Hai-Bin [Department of Radiology, First Affiliated Hospital of Nanjing Medical University, Nanjing (China); Wu, Fei-Yun, E-mail: wfydd_njmu@163.com [Department of Radiology, First Affiliated Hospital of Nanjing Medical University, Nanjing (China)

    2017-03-15

    Objectives: To assess the value of dynamic contrast-enhanced MR imaging (DCE-MRI) in differentiating benign from malignant orbital lymphoproliferative disorders (OLPDs). Methods: Thirty-nine patients with orbital lymphoproliferative disorders (21 malignant and 18 benign) underwent DCE-MRI scan for pre-treatment evaluation from March 2013 to December 2015. Both semi-quantitative (TTP, AUC, Slope{sub max}) and quantitative (K{sup trans}, k{sub ep}, v{sub e}) parameters were calculated, and compared between two groups. Receiver operating characteristic (ROC) curve analyses were used to determine the diagnostic value of each significant parameter. Results: Malignant OLPDs showed significantly higher k{sub ep}, lower v{sub e}, and lower AUC than benign OLPDs, while no significant differences were found on K{sup trans}, TTP and Slope{sub max}. ROC analyses indicated that v{sub e} exhibited the best diagnostic performance in predicting malignant OLPDs (cutoff value, 0.211; area under the curve, 0.896; sensitivity, 76.2%; specificity, 94.9%), followed by k{sub ep} (cutoff value, 0.853; area under the curve, 0.839; sensitivity, 85.7%; specificity, 89.9%). Conclusion: DCE-MRI and specially its derived quantitative parameters of k{sub ep} and v{sub e} are promising metrics for differentiating malignant from benign OLPDs.

  19. Lymphoproliferative disorder in pleural effusion in a subject with past asbestos exposure

    Directory of Open Access Journals (Sweden)

    Naofumi Hara

    2015-01-01

    Full Text Available Primary effusion lymphoma (PEL is a subtype of non-Hodgkin lymphoma that presents as serous effusions without detectable masses or organomegaly. Here we report a case of PEL-like lymphoma in a patient with past asbestos exposure. A 65-year-old man was referred to our hospital due to dyspnea upon exertion. He had been exposed to asbestos for three years in the construction industry. Chest X-ray and CT images demonstrated left pleural effusion. Cytological analysis of the pleural effusion revealed large atypical lymphocytes with distinct nuclear bodies and high nucleus-to-cytoplasm ratio. Immunohistochemical analyses showed that the cells were CD20+, CD3−, CD5−, and CD10−. These findings led to a diagnosis of diffuse large B-cell lymphoma. PEL or PEL-like lymphoma should be considered a potential cause of pleural effusion in subjects with past asbestos exposure.

  20. Composite cutaneous lymphoma (iatrogenic immunodeficiency-associated lymphoproliferative disorder) in a patient with rheumatoid arthritis treated with methotrexate: Staging and evaluation of response to therapy with "1'8F-FDG PET/CT

    International Nuclear Information System (INIS)

    Makis, William; Ciarallo, Anthony; Gonzalez-Verdecia, Milene; Wang, Beatrice; Probst, Stehan

    2017-01-01

    A 67 year old woman with a 10 year history of rheumatoid arthritis (RA) treated with methotrexate and prednisone, presented with a 2 year history of worsening multiple cutaneous plaques of variable appearance. Two distinct skin lesions were biopsied to reveal a composite cutaneous lymphoma, possibly caused by long term methotrexate therapy. An [18F] fluoro-2-deoxy-D-glucose ("1"8F-FDG) positron emission tomography/computed tomography (PET/CT) was performed to stage the malignancy, and was later repeated to evaluate response to chemotherapy, which guided subsequent management. We present the PET/CT imaging findings of this very rare iatrogenic (methotrexate induced) immunodeficiency-associated lymphoproliferative disorder

  1. Composite cutaneous lymphoma (iatrogenic immunodeficiency-associated lymphoproliferative disorder) in a patient with rheumatoid arthritis treated with methotrexate: Staging and evaluation of response to therapy with {sup 1}'8F-FDG PET/CT

    Energy Technology Data Exchange (ETDEWEB)

    Makis, William [Dept. of Diagnostic Imaging, CCI, Diagnostic Imaging, Edmonton (Canada); Ciarallo, Anthony; Gonzalez-Verdecia, Milene [MUHC Glen Site, Montreal (Canada); Wang, Beatrice [MUHC, Dermatology, Westmount (Canada); Probst, Stehan [MUHC Jewish General Hospital, Nuclear Medicine, Montreal (Canada)

    2017-09-15

    A 67 year old woman with a 10 year history of rheumatoid arthritis (RA) treated with methotrexate and prednisone, presented with a 2 year history of worsening multiple cutaneous plaques of variable appearance. Two distinct skin lesions were biopsied to reveal a composite cutaneous lymphoma, possibly caused by long term methotrexate therapy. An [18F] fluoro-2-deoxy-D-glucose ({sup 18}F-FDG) positron emission tomography/computed tomography (PET/CT) was performed to stage the malignancy, and was later repeated to evaluate response to chemotherapy, which guided subsequent management. We present the PET/CT imaging findings of this very rare iatrogenic (methotrexate induced) immunodeficiency-associated lymphoproliferative disorder.

  2. Primary and secondary cutaneous CD30(+) lymphoproliferative disorders: a report from the Dutch Cutaneous Lymphoma Group on the long-term follow-up data of 219 patients and guidelines for diagnosis and treatment

    NARCIS (Netherlands)

    Bekkenk, M. W.; Geelen, F. A.; van Voorst Vader, P. C.; Heule, F.; Geerts, M. L.; van Vloten, W. A.; Meijer, C. J.; Willemze, R.

    2000-01-01

    To evaluate our diagnostic and therapeutic guidelines, clinical and long-term follow-up data of 219 patients with primary or secondary cutaneous CD30(+) lymphoproliferative disorders were evaluated. The study group included 118 patients with lymphomatoid papulosis (LyP; group 1), 79 patients with

  3. Desordem linfoproliferativa pós-transplante em paciente pediátrico Post-transplantation lymphoproliferative disorder in pediatric patient

    Directory of Open Access Journals (Sweden)

    Paulo Manuel Pêgo Fernandes

    2006-10-01

    Full Text Available Terapias de imunossupressão, a que pacientes transplantados devem ser submetidos, os expõe a um alto risco de desenvolver desordens linfoproliferativas pós-transplante (PTLD. Descrevemos o caso de uma criança submetida a transplante cardíaco aos sete meses de idade e que acabou desenvolvendo PTLD, aos nove anos, diagnosticada por meio de retirada de nódulo pulmonar.Immunosuppressive therapy for transplanted patients exposes them to a high risk of developing posttransplantation lymphoproliferative disorders (PTLD. We report the case of a child undergoing heart transplantation at seven months of age who developed PTLD at nine years of age, diagnosed by resection of a pulmonary nodule.

  4. Automated quantification of apoptosis in B-cell chronic lymphoproliferative disorders: a prognostic variable obtained with the Cell-Dyn Sapphire (Abbott) automated hematology analyzer.

    Science.gov (United States)

    Fumi, M; Martins, D; Pancione, Y; Sale, S; Rocco, V

    2014-12-01

    B-chronic lymphocytic leukemia CLL, a neoplastic clonal disorder with monomorphous small B lymphocytes with scanty cytoplasm and clumped chromatin, can be morphologically differentiated in typical and atypical forms with different prognosis: Smudge cells (Gumprecht's shadows) are one of the well-known features of the typical CLL and are much less inconsistent in other different types CLPD. Abbott Cell-Dyn Sapphire uses the fluorescence after staining with the DNA fluorochrome propidium iodide for the measurement of nucleated red blood cells (NRBCs) and nonviable cells (FL3+ cell fraction): We have studied the possible correlation between presence and number of morphologically identifiable smudge cells on smears and the percentage of nonviable cells produced by Cell-Dyn Sapphire. 305 blood samples from 224 patients with B-cell lymphoproliferative disorders and 40 healthy blood donors were analyzed by CBC performed by Cell-Dyn Sapphire, peripheral blood smear, and immunophenotype characterization. FL3+ fraction in CLPD directly correlated with the percentage of smudge cells and is significantly increased in patients with typical B-CLL. This phenomenon is much less evident in patients with atypical/mixed B-CLL and B-NHL. In small laboratories without FCM and cytogenetic, smudge cells%, can be utilized as a preliminary diagnostic and prognostic tool in differential diagnosis of CLPD. © 2014 John Wiley & Sons Ltd.

  5. An animal model for human EBV-associated hemophagocytic syndrome: herpesvirus papio frequently induces fatal lymphoproliferative disorders with hemophagocytic syndrome in rabbits.

    Science.gov (United States)

    Hayashi, K; Ohara, N; Teramoto, N; Onoda, S; Chen, H L; Oka, T; Kondo, E; Yoshino, T; Takahashi, K; Yates, J; Akagi, T

    2001-04-01

    Epstein-Barr virus-associated hemophagocytic syndrome (EBV-AHS) is often associated with fatal infectious mononucleosis. However, the animal model for EBV-AHS has not been developed. We reported the first animal model for EBV-AHS using rabbits infected with EBV-related herpesvirus of baboon (HVP). Eleven of 13 (85%) rabbits inoculated intravenously with HVP-producing cells developed fatal lymphoproliferative disorders (LPD) between 22 and 105 days after inoculation. LPD was also accompanied by hemophagocytic syndrome (HPS) in nine of these 11 rabbits. The peroral spray of cell-free HVP induced the virus infection with increased anti-EBV-viral capsid antigen-IgG titers in three of five rabbits, and two of these three infected rabbits died of LPD with HPS. Autopsy revealed hepatosplenomegaly and swollen lymph nodes. Atypical lymphoid T cells expressing EBV-encoded small RNA-1 infiltrated diffusely in many organs, frequently involving the lymph nodes, spleen, and liver. Hemophagocytic histiocytosis was observed in the lymph nodes, spleen, bone marrow, and thymus. HVP-DNA was detected in the tissues and peripheral blood from the infected rabbits by polymerase chain reaction or Southern blot analysis. Reverse transcriptase-polymerase chain reaction revealed both HVP-EBNA1 and HVP-EBNA2 transcripts, suggesting latency type III infection. These data indicate that the high rate of rabbit LPD with HPS induction is caused by HVP. This system is useful for studying the pathogenesis, prevention, and treatment of human EBV-AHS.

  6. Waldenström's macroglobulinemia harbors a unique proteome where Ku70 is severely underexpressed as compared with other B-lymphoproliferative disorders

    International Nuclear Information System (INIS)

    Perrot, A; Pionneau, C; Azar, N; Baillou, C; Lemoine, F M; Leblond, V; Merle-Béral, H; Béné, M-C; Herbrecht, R; Bahram, S; Vallat, L

    2012-01-01

    Waldenström's macroglobulinemia (WM) is a clonal B-cell lymphoproliferative disorder (LPD) of post-germinal center nature. Despite the fact that the precise molecular pathway(s) leading to WM remain(s) to be elucidated, a hallmark of the disease is the absence of the immunoglobulin heavy chain class switch recombination. Using two-dimensional gel electrophoresis, we compared proteomic profiles of WM cells with that of other LPDs. We were able to demonstrate that WM constitutes a unique proteomic entity as compared with chronic lymphocytic leukemia and marginal zone lymphoma. Statistical comparisons of protein expression levels revealed that a few proteins are distinctly expressed in WM in comparison with other LPDs. In particular we observed a major downregulation of the double strand repair protein Ku70 (XRCC6); confirmed at both the protein and RNA levels in an independent cohort of patients. Hence, we define a distinctive proteomic profile for WM where the downregulation of Ku70—a component of the non homologous end-joining pathway—might be relevant in disease pathophysiology

  7. A meta-analysis of potential relationship between Epstein-Barr-Encoded-RNA (EBER and onset time of post-transplant lymphoproliferative disorders

    Directory of Open Access Journals (Sweden)

    Hossein Khedmat

    2015-01-01

    Full Text Available Epstein-Barr virus (EBV encodes two non-polyadenylated RNAs termed EBV-encoded RNAs (EBERs. In this study, we tried to find series in which data of EBER and onset time of post-transplant lymphoproliferative disorder (PTLD for patients have been documented to conduct a meta-analysis. A comprehensive search of the literature was performed by Pubmed and Google scholar to find reports indicating test results for EBER and PTLD onset in transplant patients. PTLD was considered "early onset" when it develops within the first post-transplant year. Finally, 265 patients from 15 studies have been included in the meta-analysis. The overall meta-analysis also showed a significant relation between EBER test positivity and early-onset PTLD development [relative risk (RR: 1.36; 95% CI: 1.16-1.59; P <0.001]. The i2 index was 49.8%. Our study suggests that PTLD lesions with positive EBER test are more likely to develop within the early post-transplant period. Since early-onset PTLD is supposed to have better prognosis, having a positive EBER test might not be a bad news. However, for having a precise conclusion, prospective studies are needed to be conducted.

  8. EBV-associated post-transplantation B-cell lymphoproliferative disorder following allogenic stem cell transplantation for acute lymphoblastic leukaemia: tumor regression after reduction of immunosuppression - a case report

    Directory of Open Access Journals (Sweden)

    Niedobitek Gerald

    2010-03-01

    Full Text Available Abstract Epstein-Barr virus (EBV-associated B-cell post-transplantation lymphoproliferative disorder (PTLD is a severe complication following stem cell transplantation. This is believed to occur as a result of iatrogenic immunosuppression leading to a relaxation of T-cell control of EBV infection and thus allowing viral reactivation and proliferation of EBV-infected B-lymphocytes. In support of this notion, reduction of immunosuppressive therapy may lead to regression of PTLD. We present a case of an 18-year-old male developing a monomorphic B-cell PTLD 2 months after receiving an allogenic stem cell transplant for acute lymphoblastic leukemia. Reduction of immunosuppressive therapy led to regression of lymphadenopathy. Nevertheless, the patient died 3 months afterwards due to extensive graft-vs.-host-disease and sepsis. As a diagnostic lymph node biopsy was performed only after reduction of immunosuppressive therapy, we are able to study the histopathological changes characterizing PTLD regression. We observed extensive apoptosis of blast cells, accompanied by an abundant infiltrate comprising predominantly CD8-positive, Granzyme B-positive T-cells. This observation supports the idea that regression of PTLD is mediated by cytotoxic T-cells and is in keeping with the observation that T-cell depletion, represents a major risk factor for the development of PTLD.

  9. Epstein-Barr virus induced hemophagocytic lymphohistiocytosis in X-linked lymphoproliferative disease

    Directory of Open Access Journals (Sweden)

    Senthilkumar Sankararaman

    2014-01-01

    Full Text Available X-linked lymphoproliferative disease (XLP is a rare, often fatal genetic disorder characterized by extreme vulnerability to Epstein-Barr virus (EBV. EBV-induced hemophagocytic lymphohistiocytosis (HLH is a known presentation in XLP. In EBV-induced HLH in XLP, the brain imaging findings in the acute phase include a non specific pattern. In this report, we highlight the magnetic resonance imaging and magnetic resonance spectroscopy findings in a child with EBV induced HLH in XLP.

  10. Response to rituximab-based therapy and risk factor analysis in epstein barr virus-related lymphoproliferative disorder after hematopoietic stem cell transplant in children and adults: a study from the Infectious Diseases Working Party of the European Group for Blood and Marrow Transplantation.

    NARCIS (Netherlands)

    Styczynski, J.; Gil, L.; Tridello, G.; Ljungman, P.; Donnelly, J.P.; Velden, W. van der; Omar, H.; Martino, R.; Halkes, C.; Faraci, M.; Theunissen, K.; Kalwak, K.; Hubacek, P.; Sica, S.; Nozzoli, C.; Fagioli, F.; Matthes, S.; Diaz, M.A.; Migliavacca, M.; Balduzzi, A.; Tomaszewska, A.; amara Rde, L. C; Biezen, A. van; Hoek, J. van den; Iacobelli, S.; Einsele, H.; Cesaro, S.

    2013-01-01

    BACKGROUND: The objective of this analysis was to investigate prognostic factors that influence the outcome of Epstein-Barr virus (EBV)-related posttransplant lymphoproliferative disorder (PTLD) after a rituximab-based treatment in the allogeneic hematopoietic stem cell transplant (HSCT) setting.

  11. IgG4-related disease in autoimmune lymphoproliferative syndrome.

    Science.gov (United States)

    van de Ven, Annick A J M; Seidl, Maximilian; Drendel, Vanessa; Schmitt-Graeff, Annette; Voll, Reinhard E; Rensing-Ehl, Anne; Speckmann, Carsten; Ehl, Stephan; Warnatz, Klaus; Kollert, Florian

    2017-07-01

    A patient with autoimmune lymphoproliferative disorder (ALPS) developed IgG4-related disease. In retrospect, he had high levels of serum IgG4 for several years prior to presenting with IgG4-related pancreatitis. These high IgG4 levels were masked by hypergammaglobulinemia, a common feature of ALPS. We next screened 18 ALPS patients; four of them displayed increased levels of IgG4. Hence, IgG4-related disease should be considered in ALPS patients, especially in those manifesting lymphocytic organ infiltration or excessive hypergammaglobulinaemia. Screening of IgG4-related disease patients for ALPS-associated mutations would provide further information on whether this disease could be a late-onset atypical presentation of ALPS. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Meige's Syndrome: Rare Neurological Disorder Presenting as Conversion Disorder.

    Science.gov (United States)

    Debadatta, Mohapatra; Mishra, Ajay K

    2013-07-01

    Meige's syndrome is a rare neurological syndrome characterized by oromandibular dystonia and blepharospasm. Its pathophysiology is not clearly determined. A 35-year-old female presented to psychiatric department with blepharospasm and oromandibular dystonia with clinical provisional diagnosis of psychiatric disorder (Conversion Disorder). After thorough physical examination including detailed neurological exam and psychiatric evaluation no formal medical or psychiatric diagnosis could be made. The other differential diagnoses of extra pyramidal symptom, tardive dyskinesia, conversion disorder, anxiety disorder were ruled out by formal diagnostic criteria. Consequently with suspicion of Meige's syndrome she was referred to the department of Neurology and the diagnosis was confirmed. Hence, Meige's syndrome could be misdiagnosed as a psychiatric disorder such as conversion disorder or anxiety disorder because clinical features of Meige's syndrome are highly variable and affected by psychological factors and also can be inhibited voluntarily to some extent.

  13. Clinical neurogenetics: neurologic presentations of metabolic disorders.

    Science.gov (United States)

    Kwon, Jennifer M; D'Aco, Kristin E

    2013-11-01

    This article reviews aspects of the neurologic presentations of selected treatable inborn errors of metabolism within the category of small molecule disorders caused by defects in pathways of intermediary metabolism. Disorders that are particularly likely to be seen by neurologists include those associated with defects in amino acid metabolism (organic acidemias, aminoacidopathies, urea cycle defects). Other disorders of small molecule metabolism are discussed as additional examples in which early treatments have the potential for better outcomes. Copyright © 2013 Elsevier Inc. All rights reserved.

  14. Lacrimal sac lymphoproliferative lesion: case report.

    Science.gov (United States)

    Coloma-González, I; Ruíz-García, L; Ceriotto, A; Corredor-Casas, S; Salcedo-Casillas, G

    2015-03-01

    The case is presented of a 51 year-old woman with a firm mass at the medial canthus of the right eye of five years onset. A low-grade lymphoproliferative lesion (reactive lymphoid hyperplasia) was diagnosed from an excisional biopsy Lacrimal sac tumors are rare, with a peak incidence in the fifth decade of life. The initial clinical features are epiphora and medial canthus swelling. As it mimics nasolacrimal duct obstruction, up to 40% of these tumors are misdiagnosed until undergoing surgery. Copyright © 2013 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

  15. Intracranial Castleman's disease presenting as hypopituitarism

    International Nuclear Information System (INIS)

    Ribeiro, L.T.; Simao, G.N.; Matos, A.L.M.; Santos, Antonio Carlos; Carlotti, C.G. Jr.; Colli, B.O.; Neder, L.; Ribeiro-Silva, A.; Castro, M. de; Rego, E.

    2004-01-01

    Castleman's disease is an atypical lymphoproliferative disorder that may present as a localized or multicentric form. The involvement of the central nervous system is rare. We describe here a case of Castleman's disease with involvement of the hypothalamus and meninges, presenting as hypopituitarism. Radiological and clinical pathological features are emphasized and a review of the literature is presented. (orig.)

  16. The Many Presentations of Posttraumatic Stress Disorder

    Directory of Open Access Journals (Sweden)

    Edward J. Hickling

    2013-02-01

    Full Text Available Posttraumatic stress disorder (PTSD has been a controversial diagnosis, with concerns including the sheer number of possible minimal diagnostic combinations (1,750, increasing to >10,000 theoretical possibilities in Diagnostic and Statistical Manual of Mental Disorders (5th ed. proposals. This study examined whether the theoretical combinations postulated actually occur in a large sample of military personnel. The design of the study was a retrospective examination of PTSD checklists from 3,810 participants who, based on scores, endorsed symptoms consistent with probable PTSD. Combinations of PTSD Checklist–Civilian Version (PCL-C symptom clusters were identified using data from active-duty military personnel who completed the 2005 and the 2008 Department of Defense (DoD Health Related Behaviors Among Active Duty Military Personnel Survey. The study examined (a occurrence of combinations, (b unique minimum combinations, (c most frequent combinations, and (d replication of symptom combinations and clusters. The PCL-C scores showed 1,837 unique scoring combinations, 83.5% (1,533/1,837 of the observed unique scoring combinations occurred just once. The most frequently occurring combination (17/17 endorsed accounted for 955 participants (25.1%, the second most frequent (16/17 endorsed accounted for 75 participants (2.0%. PTSD most often presented as a unique constellation of symptom clusters, either capturing symptoms while allowing for considerable variability in its presentation, reflecting different severities of the disorder, or raising concerns about the classification itself, and any future classification that Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM-V might develop.

  17. Posttransplantation lymphoproliferative disease involving the pituitary gland.

    Science.gov (United States)

    Meriden, Zina; Bullock, Grant C; Bagg, Adam; Bonatti, Hugo; Cousar, John B; Lopes, M Beatriz; Robbins, Mark K; Cathro, Helen P

    2010-11-01

    Posttransplantation lymphoproliferative disorders (PTLD) are heterogeneous lesions with variable morphology, immunophenotype, and molecular characteristics. Multiple distinct primary lesions can occur in PTLD, rarely with both B-cell and T-cell characteristics. Lesions can involve both grafted organs and other sites; however, PTLD involving the pituitary gland has not been previously reported. We describe a patient who developed Epstein-Barr virus-negative PTLD 13 years posttransplantation involving the terminal ileum and pituitary, which was simultaneously involved by a pituitary adenoma. Immunohistochemistry of the pituitary lesion showed expression of CD79a, CD3, and CD7 with clonal rearrangements of both T-cell receptor gamma chain (TRG@) and immunoglobulin heavy chain (IGH@) genes. The terminal ileal lesion was immunophenotypically and molecularly distinct. This is the first report of pituitary PTLD and illustrates the potentially complex nature of PTLD. Copyright © 2010 Elsevier Inc. All rights reserved.

  18. Possible Association of Multicentric Castleman's Disease with Autoimmune Lymphoproliferative Syndrome

    Directory of Open Access Journals (Sweden)

    Hiroyuki Minemura

    2018-04-01

    Full Text Available Multicentric Castleman's disease (MCD is lymphoproliferative disorder characterized by systemic inflammatory symptoms such as fever and weight loss. Human herpes virus-8 (HHV-8 is thought to be a causable pathogen in all HIV-positive and some HIV-negative MCD patients. Furthermore, the term idiopathic MCD (iMCD was recently proposed to represent a group of HIV-negative and HHV-8-negative patients with unknown etiologies. Although the international diagnostic criteria for iMCD require exclusion of infection-related disorders, autoimmune/autoinflammatory diseases and malignant/lymphoproliferative disorders to make an iMCD diagnosis, the relationships and differences between these disorders and MCD have not yet been clarified. We recently reported the first case of MCD with autoimmune lymphoproliferative syndrome (ALPS. Although ALPS was included in the iMCD exclusion criteria as an autoimmune/autoinflammatory disease according to the international diagnostic criteria, there is a lack of evidence on the association between MCD and ALPS. In this study, we review the recent understanding of MCD and discuss the possible association between MCD with ALPS.

  19. Uncommon presentation of a common disorder

    Directory of Open Access Journals (Sweden)

    P R Sowmini

    2013-01-01

    Full Text Available We report about a young male who presented with generalized muscle stiffness, involving the limb, facial, and paraspinal muscles. The stiffness was severe enough to restrict all his daily activities, progressively increased with movements and also produced recurrent falls. This clinical picture resembled one of stiff person syndrome. As he had hypertrophy of calf muscles and generalized muscle tautness he was evaluated for other disorders which can resemble stiff person syndrome. Investigations revealed severe hypothyroidism with thyroid antibodies being elevated. This case is reported to highlight the fact that myopathy as a presenting manifestation of hypothyroidism can simulate stiff person syndrome. It is essential to identify the condition early as it recovers fully with treatment. Our patient responded well to thyroid replacement therapy and was able to lead a normal life.

  20. An atypical presentation of visual conversion disorder.

    Science.gov (United States)

    Foutch, Brian K

    2015-01-01

    Nonorganic vision loss accounts for up to 5% of patients and presents in two forms, malingering and visual conversion disorder (VCD). It is described a case of VCD in a new mother struggling both with her husband being deployed overseas and the recent death of her father. In addition, she had been evaluated for a concussion secondary to a motor vehicle accident three months prior. An inexpensive series of clinical tests were performed to rule out organic disease and obtained equivocal results. Some tests revealed intact vision in the affected eye while others supported a neurological cause for the vision loss. However, the patient quickly recovered normal visual acuity when encouraged to discuss situations that have been causing emotional stress. This almost immediate recovery of vision confirmed the diagnosis of VCD. This report should make primary eye care professionals more aware of visual conversion disorder and its clinical evaluation. Copyright © 2014 Spanish General Council of Optometry. Published by Elsevier Espana. All rights reserved.

  1. Conversion Disorder Presenting As Neuritic Leprosy

    Directory of Open Access Journals (Sweden)

    Sayal SK

    2000-01-01

    Full Text Available Conversion disorder is not normally listed amongst the conditions in differential diagnosis of leprosy neuropathy. A case conversion reaction who was initially diagnosed as neuritic leprosy is reported. Patient responded to narcosuggestion and psychotherapy.

  2. EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53.

    Science.gov (United States)

    Bogusz, Agata M

    2017-01-01

    Posttransplant lymphoproliferative disorders (PTLDs) are a diverse group of lymphoid or plasmacytic proliferations frequently driven by Epstein-Barr virus (EBV). EBV-negative PTLDs appear to represent a distinct entity. This report describes an unusual case of a 33-year-old woman that developed a monomorphic EBV-negative PTLD consistent with diffuse large B-cell lymphoma (DLBCL) 13 years after heart-lung transplant. Histological examination revealed marked pleomorphism of the malignant cells including nodular areas reminiscent of classical Hodgkin lymphoma (cHL) with abundant large, bizarre Hodgkin-like cells. By immunostaining, the malignant cells were immunoreactive for CD45, CD20, CD79a, PAX5, BCL6, MUM1, and p53 and negative for CD15, CD30, latent membrane protein 1 (LMP1), and EBV-encoded RNA (EBER). Flow cytometry demonstrated lambda light chain restricted CD5 and CD10 negative B-cells. Fluorescence in situ hybridization studies (FISH) were negative for cMYC , BCL2, and BCL6 rearrangements but showed deletion of TP53 and monosomy of chromosome 17. Next-generation sequencing studies (NGS) revealed numerous genetic alterations including 6 pathogenic mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53 (x2) genes and 30 variants of unknown significance (VOUS) in ABL1, ASXL1, ATM, BCOR, BCORL1, BRNIP3, CDH2, CDKN2A, DNMT3A, ETV6, EZH2, FBXW7, KIT, NF1, RUNX1, SETPB1, SF1, SMC1A, STAG2, TET2, TP53, and U2AF2.

  3. EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53

    Directory of Open Access Journals (Sweden)

    Agata M. Bogusz

    2017-01-01

    Full Text Available Posttransplant lymphoproliferative disorders (PTLDs are a diverse group of lymphoid or plasmacytic proliferations frequently driven by Epstein-Barr virus (EBV. EBV-negative PTLDs appear to represent a distinct entity. This report describes an unusual case of a 33-year-old woman that developed a monomorphic EBV-negative PTLD consistent with diffuse large B-cell lymphoma (DLBCL 13 years after heart-lung transplant. Histological examination revealed marked pleomorphism of the malignant cells including nodular areas reminiscent of classical Hodgkin lymphoma (cHL with abundant large, bizarre Hodgkin-like cells. By immunostaining, the malignant cells were immunoreactive for CD45, CD20, CD79a, PAX5, BCL6, MUM1, and p53 and negative for CD15, CD30, latent membrane protein 1 (LMP1, and EBV-encoded RNA (EBER. Flow cytometry demonstrated lambda light chain restricted CD5 and CD10 negative B-cells. Fluorescence in situ hybridization studies (FISH were negative for cMYC, BCL2, and BCL6 rearrangements but showed deletion of TP53 and monosomy of chromosome 17. Next-generation sequencing studies (NGS revealed numerous genetic alterations including 6 pathogenic mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53(x2 genes and 30 variants of unknown significance (VOUS in ABL1, ASXL1, ATM, BCOR, BCORL1, BRNIP3, CDH2, CDKN2A, DNMT3A, ETV6, EZH2, FBXW7, KIT, NF1, RUNX1, SETPB1, SF1, SMC1A, STAG2, TET2, TP53, and U2AF2.

  4. End-of-Treatment Positron Emission Tomography After Uniform First-Line Therapy of B-Cell Posttransplant Lymphoproliferative Disorder Identifies Patients at Low Risk of Relapse in the Prospective German PTLD Registry.

    Science.gov (United States)

    Zimmermann, Heiner; Denecke, Timm; Dreyling, Martin H; Franzius, Christiane; Reinke, Petra; Subklewe, Marion; Amthauer, Holger; Kneba, Michael; Riess, Hanno; Trappe, Ralf U

    2018-05-01

    Fluorine-18 fluorodeoxyglucose (18F-FDG)-positron emission tomography (PET) is a recommended standard in the staging and response assessment of 18F-FDG-avid lymphoma. Posttransplant lymphoproliferative disorder (PTLD) can be detected by 18F-FDG-PET at diagnosis with high sensitivity and specificity. However, the role of response assessment by end-of-treatment (EOT) PET has only been addressed in small case series. We performed a retrospective, multicenter study of 37 patients with CD20-positive PTLD after solid organ transplantation treated with uniform, up-to-date, first-line protocols in the prospective German PTLD registry who had received EOT 18F-FDG-PET between 2006 and 2014. Median follow-up was 5.0 years. Any nonphysiological 18F-FDG uptake (Deauville score greater 2) was interpreted as PET-positive. By computed tomography (CT) final staging, 18 of 37 patients had a complete response, 18 had a partial response and 1 patient had stable disease. EOT PET was negative in 24 of 37 patients and positive in 13 of 37 patients. The positive predictive value of EOT PET for PTLD relapse was 38%, and the negative predictive value was 92%. Time to progression (TTP) and progression-free-survival were significantly longer in the PET negative group (P = 0.019 and P = 0.013). In the 18 patients in a partial response by CT staging, we noted highly significant differences in overall survival (P = 0.001), time to progression (P = 0.007), and progression-free survival (P < 0.001) by EOT PET. Even without baseline imaging, EOT PET in PTLD identifies patients at low risk of relapse and offers clinically relevant information, particularly in patients in a partial remission by CT staging.

  5. Clinical Neurotoxic Disorders : Past, Present and Future

    Directory of Open Access Journals (Sweden)

    Nag Devika

    2001-01-01

    Full Text Available Neurotoxins have existed on the earth from times immemorial. Old neurotoxic disorders were due to ingestion/ exposure of heavy metals and food like lathyrus sativus over a long period of time. The 20th Century with rapid industrialsation and expanding chemical and drug industry has spawned several new, hitherto unknown disorders. Old disorders continue to exist e.g. fluorosis, arsenicosis, lathyrism, manganism and lead neuropathy, along with new diseases like Minamata disease, subacute myelo optic neuropathy (SMON, MPTP-Parkinsonian syndorme, triorthcresyl phosphate (TOCP neuroparalytic disease, pesticide induced seizures, tremor and neuropathy, solvent encephalopthy, antipileptic drug foetal syndrome and excitotoxin induced behavioural disorders. Studies on pesticides Organochlorine and organophosphates, synthetic pyrethrins, solvents, heavy metals and substances abuse in the Indian context confirm the neurotoxic nature of many synthetic substances. Future problems envisaged are of concern to clinical neurologists as many of these neurotoxic disorders mimic syndromes of well known neurological disease. The new millenium poses a challenge to the clinician as newer compounds in industry, food, drugs and chemical war agents are being developed. Molecular genetics has advanced rapidly with release of the human genome map. Animal cloning and genetically modified plant products have entered the food chain. How safe are these new inventions for the central nervous system is a big question? India cannot afford disasters like Union Carbide′s Bhopal gas leak nor be a silent spectator to manipulative biotechnology. Unless it is proven beyond all doubt to be a safe innovation, Chemicals have to be cautiously introduced in our environment. To Study, ascertain and confirm safety or neurotoxicity is an exciting challenge for the neuroscientists of the 21st century.

  6. EXPRESSION OF A NEW A3 ANTIGEN IN THE CELLS OF PATIENTS WITH VARIOUS LYMPHOPROLIFERATIVE DISEASES

    Directory of Open Access Journals (Sweden)

    N. L. Deineko

    2014-01-01

    Full Text Available We have conducted a study of a novel monoclonal A3 antibody raised by means of hybridoma biotechnology. The study was performed with malignant cells of the patients with various lymphoproliferative disorders, and persons with nonmalignant diseases, as compared with intact lymphocytes from healthy people,using a method of immunocytochemical staining and indirect immunofluorescence technique. It was found that in cases of lymphoproliferative diseases with low proliferation rates, as based on the numbers of Ki-67 positive cells, as well as in non-malignant blood diseases, the A3 antigen was localized in nucleoli, and it was visualized as focal fluorescence. In malignant lymphoproliferative diseases with high proliferation indexes, the number of brightly fluorescent foci is observed, with formation of necklace-like structures within the nucleolar structures. The obtained data point to a diagnostic significance of A3 Mab in assessment of cellular proliferative rates in patients with various lymphoproliferative diseases. It was established that, in contrast to Ki-67, the proliferation stage could be determined for each cell, according to the number of fuorescent foci in nucleoli. This specific property of the A3 antigen points to its significance for diagnostics and malignancy staging of lymphoproliferative disorders.

  7. Disorders presenting with headache as the sole symptom ...

    African Journals Online (AJOL)

    Disorders presenting with headache as the sole symptom. ... Log in or Register to get access to full text downloads. ... probably do not require sophisticated neurological skills or investigations, failure to recognise an underlying disorder or an ...

  8. Risk factors for Epstein-Barr virus-related post-transplant lymphoproliferative disease after allogeneic hematopoietic stem cell transplantation.

    Science.gov (United States)

    Uhlin, Michael; Wikell, Helena; Sundin, Mikael; Blennow, Ola; Maeurer, Markus; Ringden, Olle; Winiarski, Jacek; Ljungman, Per; Remberger, Mats; Mattsson, Jonas

    2014-02-01

    Allogeneic hematopoietic stem cell transplantation is a successful treatment for hematologic malignancies and a variety of genetic and metabolic disorders. In the period following stem cell transplantation, the immune-compromised milieu allows opportunistic pathogens to thrive. Epstein-Barr virus-associated post-transplant lymphoproliferative disease can be a life-threatening complication for transplanted patients because of suppressed T-cell-mediated immunity. We analyzed possible risk factors associated with post-transplant lymphoproliferative disease in a cohort of over 1,000 patients. The incidence of post-transplant lymphoproliferative disease was 4%. Significant risk factors identified by multivariate analysis were: human leukocyte antigen-mismatch (PEpstein-Barr virus mismatch recipient-/donor+ (Pdisease grade II to IV (P=0.006), pre-transplant splenectomy (P=0.008) and infusion of mesenchymal stromal cells (P=0.015). The risk of post-transplant lymphoproliferative disease has increased in more recent years, from less than 2% before 1998 to more than 6% after 2011. Additionally, we show that long-term survival of patients with post-transplant lymphoproliferative disease is poor despite initial successful treatment. The 3-year survival rate among the 40 patients with post-transplant lymphoproliferative disease was 20% as opposed to 62% among patients without post-transplant lymphoproliferative disease (Pdisease after transplantation in need of pre-emptive measures.

  9. EBV-positive B cell cerebral lymphoma 12 years after sex-mismatched kidney transplantation: post-transplant lymphoproliferative disorder or donor-derived lymphoma?

    LENUS (Irish Health Repository)

    Phelan, Paul J

    2010-06-01

    We present a follow-up case report of possible transmission of lymphoma 12 years after deceased-donor renal transplantation from a male donor who was found at autopsy to have had an occult lymphoma. The female recipient underwent prompt transplant nephrectomy. However, 12 years later, she presented with cerebral B cell lymphoma. A donor origin for the cerebral lymphoma was supported by in situ hybridization demonstration of a Y chromosome in the lymphoma. There was a dramatic resolution of the cerebral lesions with tapering of immunosuppression and introduction of rituximab treatment. The finding of a Y chromosome in the cerebral lymphoma does not exclude a host contribution to lymphoma development.

  10. Body Dysmorphic Disorder in Patients Presenting for Cosmetic Treatment

    Directory of Open Access Journals (Sweden)

    Ebru Altintas

    2015-09-01

    Full Text Available Body dysmorphic disorder is an obsessive-compulsive related psychiatric disorder characterized by excessive preoccupation about an imagined or slight defect in appearance. Preoccupation of the appearance with the skin, hair and nose are most common. Impairment of the quality of life, comorbidity of the psychiatric and personality disorder are related with body dysmorphic disorder. Nowadays, cosmetic procedure has become increasingly popular especially among women. The prevalence of body dysmorphic disorder among patients seeking cosmetic treatment in surgery or dermatology clinics is higher than general population. As postoperatively some patients dissatisfied with the surgery, dermatologists and surgeons should be informed about body dysmorphic disorder. This aim of this review was to assess prevalance, clinical features, motivational factors of patients with body dysmorphic disorder presenting for cosmetic medical treatments. [Archives Medical Review Journal 2015; 24(3.000: 324-338

  11. Eating disorder not otherwise specified presentation in the US population.

    Science.gov (United States)

    Le Grange, Daniel; Swanson, Sonja A; Crow, Scott J; Merikangas, Kathleen R

    2012-07-01

    To examine prevalence and clinical correlates of eating disorder not otherwise specified (EDNOS) in the US population. Two cross-sectional surveys of adults and adolescents used the WHO CIDI to assess DSM-IV criteria for anorexia nervosa (AN), bulimia nervosa (BN), and EDNOS. Lifetime prevalence of EDNOS was 4.78% in adolescents and 4.64% in adults. The majority of adolescents and adults with an eating disorder presented with EDNOS. Three-quarters of participants with EDNOS met criteria for comorbid disorders, while one-quarter endorsed suicidality. Severity correlates were equally prevalent in EDNOS and AN, whereas comparisons between EDNOS and BN varied by specific correlate and sample. Adolescents with subthreshold AN (SAN) endorsed more anxiety than AN (p EDNOS. Eating disorder diagnostic nomenclature requires modification to capture the full spectrum. © 2012 by Wiley Periodicals, Inc. Int J Eat Disord 2012. Copyright © 2012 Wiley Periodicals, Inc.

  12. Type of presentation of dissociative disorder and frequency of co-morbid depressive disorder.

    Science.gov (United States)

    Alvi, Tabassum; Minhas, Fareed Aslam

    2009-02-01

    To determine the frequency distribution of various types of dissociative disorders, along with existing co-morbid depression and its level of severity in patients with dissociative disorder. Observational, cross-sectional study. The Institute of Psychiatry, Rawalpindi General Hospital from October 2004 to March 2005. Fifty consecutive patients were included in the study through non-probable purposive sampling technique. Encounter form included socio-demographic profile and brief psychiatric history. ICD 10 diagnostic criteria for research were administered for determining the presentation of dissociative disorder. Present state examination was applied to make diagnosis of depressive disorder in the studied patients. Descriptive statistics for frequency analysis of sociodemographic variables, type of presentation of dissociative disorder and the frequency of depressive disorder in patients of dissociative disorder. The mean age was 23.6+/-8.67 years with female preponderance (n=40, 80% patients). Most of them were single, unemployed and belonged to urban population. Main stress was primary support group issue. Mixed category of dissociative disorder was highest (n=18, 38%) followed by unspecified and motor symptoms (n=13, 26%) in each group. Depression was present in 42 (84%) patients. Moderate depression was most frequent (n=19, 38%). Mixed dissociative symptoms were found in 38%, while 26% had motor and unspecified category of dissociative symptoms respectively. Depressive disorder was present in 42 (84%) cases of dissociative disorder with 38% having moderate depression.

  13. Overview and clinical presentation of generalized anxiety disorder.

    Science.gov (United States)

    Rickels, K; Rynn, M

    2001-03-01

    1. To distinguish GAD from panic disorder is not difficult if a patient has frequent, spontaneous panic attacks and agoraphobic symptoms, but many patients with GAD have occasional anxiety attacks or panic attacks. Such patients should be considered as having GAD. An even closer overlap probably exists between GAD and social phobia. Patients with clear-cut phobic avoidant behavior may be distinguished easily from patients with GAD, but patients with social anxiety without clear-cut phobic avoidant behavior may overlap with patients with GAD and possibly should be diagnosed as having GAD and not social phobia. The cardinal symptoms of GAD commonly overlap with those of social phobia, particularly if the social phobia is more general and not focused on a phobic situation. For example, free-floating anxiety may cause the hands to perspire and may cause a person to be shy in dealing with people in public, and thus many patients with subthreshold social phobic symptoms have, in the authors' opinion, GAD and not generalized social phobia. The distinction between GAD and obsessive-compulsive disorder, acute stress disorder, and posttraumatic stress disorder should not be difficult by definition. At times, however, it may be difficult to distinguish between adjustment disorder with anxious mood from GAD or anxiety not otherwise specified, particularly if the adjustment disorder occurs in a patient with a high level of neuroticism or trait anxiety or type C personality disorder. Table 2 presents features distinguishing GAD from other psychiatric disorders. 2. Lifetime comorbid diagnoses of other anxiety or depression disorders, not active for 1 year or more and not necessitating treatment during that time period, should not effect a diagnosis of current GAD. On the other hand, if concomitant depressive symptoms are present and if these are subthreshold, a diagnosis of GAD should be made, and if these are full threshold, a diagnosis of MDD should be made. 3. If GAD is

  14. Acute auditory agnosia as the presenting hearing disorder in MELAS.

    Science.gov (United States)

    Miceli, Gabriele; Conti, Guido; Cianfoni, Alessandro; Di Giacopo, Raffaella; Zampetti, Patrizia; Servidei, Serenella

    2008-12-01

    MELAS is commonly associated with peripheral hearing loss. Auditory agnosia is a rare cortical auditory impairment, usually due to bilateral temporal damage. We document, for the first time, auditory agnosia as the presenting hearing disorder in MELAS. A young woman with MELAS (A3243G mtDNA mutation) suffered from acute cortical hearing damage following a single stroke-like episode, in the absence of previous hearing deficits. Audiometric testing showed marked central hearing impairment and very mild sensorineural hearing loss. MRI documented bilateral, acute lesions to superior temporal regions. Neuropsychological tests demonstrated auditory agnosia without aphasia. Our data and a review of published reports show that cortical auditory disorders are relatively frequent in MELAS, probably due to the strikingly high incidence of bilateral and symmetric damage following stroke-like episodes. Acute auditory agnosia can be the presenting hearing deficit in MELAS and, conversely, MELAS should be suspected in young adults with sudden hearing loss.

  15. Idiopathic Basal Ganglia Calcification Presented with Impulse Control Disorder

    OpenAIRE

    Sahin, Cem; Levent, Mustafa; Akbaba, Gulhan; Kara, Bilge; Yeniceri, Emine Nese; Inanc, Betul Battaloglu

    2015-01-01

    Primary familial brain calcification (PFBC), also referred to as Idiopathic Basal Ganglia Calcification (IBGC) or “Fahr’s disease,” is a clinical condition characterized by symmetric and bilateral calcification of globus pallidus and also basal ganglions, cerebellar nuclei, and other deep cortical structures. It could be accompanied by parathyroid disorder and other metabolic disturbances. The clinical features are dysfunction of the calcified anatomic localization. IBGC most commonly present...

  16. Genetics Home Reference: X-linked lymphoproliferative disease

    Science.gov (United States)

    ... my area? Other Names for This Condition Duncan disease Epstein-Barr virus-induced lymphoproliferative disease in males familial fatal ... the proapoptotic SAP function in X-linked lymphoproliferative disease aggravates Epstein-Barr virus (EBV) induced mononucleosis and promotes lymphoma development. ...

  17. Cerebellar Cognitive Affective Syndrome Presented as Severe Borderline Personality Disorder

    Directory of Open Access Journals (Sweden)

    Danilo Pesic

    2014-01-01

    Full Text Available An increasing number of findings confirm the significance of cerebellum in affecting regulation and early learning. Most consistent findings refer to association of congenital vermis anomalies with deficits in nonmotor functions of cerebellum. In this paper we presented a young woman who was treated since sixteen years of age for polysubstance abuse, affective instability, and self-harming who was later diagnosed with borderline personality disorder. Since the neurological and neuropsychological reports pointed to signs of cerebellar dysfunction and dysexecutive syndrome, we performed magnetic resonance imaging of brain which demonstrated partially developed vermis and rhombencephalosynapsis. These findings match the description of cerebellar cognitive affective syndrome and show an overlap with clinical manifestations of borderline personality disorder.

  18. LYMPHOPROLIFERATIVE SYNDROMES ASSOCIATED WITH HUMAN HERPESVIRUS-6A AND HUMAN HERPESVIRUS-6B

    Directory of Open Access Journals (Sweden)

    Eva Eliassen

    2018-05-01

    Full Text Available Human herpesvirus 6A and 6B (HHV-6A and HHV-6B have been noted since their discovery for their T-lymphotropism. Although it has proven difficult to determine the extent to which HHV-6A and HHV-6B are involved in the pathogenesis of many diseases, evidence suggests that primary infection and reactivation of both viruses may induce or contribute to the progression of several lymphoproliferative disorders, ranging from benign to malignant and including infectious mononucleosis-like illness, drug induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms (DIHS/DRESS, and nodular sclerosis Hodgkin’s lymphoma. Herein, we discuss the conditions associated with the lymphoproliferative capacity of HHV-6, as well as the potential mechanisms behind them. Continued exploration on this topic may add to our understanding of the interactions between HHV-6 and the immune system and may open the doors to more accurate diagnosis and treatment of certain lymphoproliferative disorders.

  19. C9orf72 expansion presenting as an eating disorder.

    Science.gov (United States)

    Sanders, Peter; Ewing, Isobel; Ahmad, Kate

    2016-03-01

    This report describes a 64-year-old woman with a strong family history of motor neuron disease, whose diagnosis of behavioural variant frontotemporal dementia was delayed due to her initial presentation with atypical manifestations, including restriction of oral intake resulting in low weight, disordered eating and anxiety. Upon investigation, she was found to be a carrier of the C9orf72 hexanucleotide repeat expansion. Our case supports previous publications asserting that C9orf72 mutation carriers manifest with diverse clinical syndromes, and expands the phenotype to include anorexia and food refusal as potential features of the condition. Crown Copyright © 2015. Published by Elsevier Ltd. All rights reserved.

  20. The varied clinical presentations of major depressive disorder.

    Science.gov (United States)

    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.

  1. Disorders of sex development presenting as unilateral cryptorchidism

    DEFF Research Database (Denmark)

    Ostergren, Peter; Juul, Anders; Azawi, Nessn H

    2013-01-01

    Abstract Disorders of sex development (DSD) present in different forms but, in most cases, with visible anomalies of the external genitalia. The diagnosis of DSD can have a vast impact on an individual; in addition to concerns about fertility and a higher risk of neoplasia, it may have severe...... psychosocial impact on the patient. This report presents two apparently healthy cases referred for operation because of unilateral undescended testis. In these two patients, uterine remnants were found during the operation, and underlying DSD conditions were unexpectedly diagnosed. One patient had a 45,X/46,XY...... mosaic karyotype, while the second patient had persistent müllerian duct syndrome, probably due to an anti-müllerian hormone receptor defect. Both conditions are extremely rare, but the findings reinforce that DSD should be considered in patients with cryptorchidism, especially if other clinical signs...

  2. Recognizing Uncommon Presentations of Psychogenic (Functional Movement Disorders

    Directory of Open Access Journals (Sweden)

    José Fidel Baizabal-Carvallo

    2015-01-01

    Full Text Available Background: Psychogenic or functional movement disorders (PMDs pose a challenge in clinical diagnosis. There are several clues, including sudden onset, incongruous symptoms, distractibility, suggestibility, entrainment of symptoms, and lack of response to otherwise effective pharmacological therapies, that help identify the most common psychogenic movements such as tremor, dystonia, and myoclonus.Methods: In this manuscript, we review the frequency, distinct clinical features, functional imaging, and neurophysiological tests that can help in the diagnosis of uncommon presentations of PMDs, such as psychogenic parkinsonism, tics, and chorea; facial, palatal, and ocular movements are also reviewed. In addition, we discuss PMDs at the extremes of age and mass psychogenic illness.Results: Psychogenic parkinsonism (PP is observed in less than 10% of the case series about PMDs, with a female–male ratio of roughly 1:1. Lack of amplitude decrement in repetitive movements and of cogwheel rigidity help to differentiate PP from true parkinsonism. Dopamine transporter imaging with photon emission tomography can also help in the diagnostic process. Psychogenic movements resembling tics are reported in about 5% of PMD patients. Lack of transient suppressibility of abnormal movements helps to differentiate them from organic tics. Psychogenic facial movements can present with hemifacial spasm, blepharospasm, and other movements. Some patients with essential palatal tremor have been shown to be psychogenic. Convergence ocular spasm has demonstrated a high specificity for psychogenic movements. PMDs can also present in the context of mass psychogenic illness or at the extremes of age.Discussion: Clinical features and ancillary studies are helpful in the diagnosis of patients with uncommon presentations of psychogenic movement disorders.

  3. Characterization of skin blister fluids from children with Epstein-Barr virus-associated lymphoproliferative disease.

    Science.gov (United States)

    Wada, Taizo; Toma, Tomoko; Miyazawa, Hanae; Koizumi, Eiko; Shirahashi, Tetsujiro; Matsuda, Yusuke; Yachie, Akihiro

    2018-04-01

    Epstein-Barr virus (EBV)-associated T- or natural killer (NK)-cell lymphoproliferative disease (LPD) is a heterogeneous group of disorders characterized by chronic proliferation of EBV-infected lymphocytes. Patients may present with severe skin manifestations, including hypersensitivity to mosquito bites (HMB) and hydroa vacciniforme (HV)-like eruption, which are characterized by blister formation and necrotic ulceration. Skin biopsy specimens show inflammatory reactions comprising EBV-infected lymphocytes. However, blister fluids have not been fully assessed in patients with this disease. Blister fluids were collected from three patients with EBV-associated LPD: two with HMB and one with HV. Immunophenotyping of blister lymphocytes and measurement of tumor necrosis factor (TNF)-α in blister fluids were performed. The patients with HMB and HV exhibited markedly increased percentages of NK and γδ T cells, respectively, in both peripheral blood and blister fluids. These NK and γδ T cells strongly expressed the activation marker human leukocyte antigen-DR and were considered to be cellular targets of EBV infections. TNF-α was highly elevated in all blister fluids. Severe local skin reactions of EBV-associated LPD may be associated with infiltrating EBV-infected lymphocytes and a high TNF-α concentration in blister fluids. © 2018 Japanese Dermatological Association.

  4. Response to rituximab-based therapy and risk factor analysis in Epstein Barr Virus-related lymphoproliferative disorder after hematopoietic stem cell transplant in children and adults: a study from the Infectious Diseases Working Party of the European Group for Blood and Marrow Transplantation.

    Science.gov (United States)

    Styczynski, Jan; Gil, Lidia; Tridello, Gloria; Ljungman, Per; Donnelly, J Peter; van der Velden, Walter; Omar, Hamdy; Martino, Rodrigo; Halkes, Constantijn; Faraci, Maura; Theunissen, Koen; Kalwak, Krzysztof; Hubacek, Petr; Sica, Simona; Nozzoli, Chiara; Fagioli, Franca; Matthes, Susanne; Diaz, Miguel A; Migliavacca, Maddalena; Balduzzi, Adriana; Tomaszewska, Agnieszka; Camara, Rafael de la; van Biezen, Anja; Hoek, Jennifer; Iacobelli, Simona; Einsele, Hermann; Cesaro, Simone

    2013-09-01

     The objective of this analysis was to investigate prognostic factors that influence the outcome of Epstein-Barr virus (EBV)-related posttransplant lymphoproliferative disorder (PTLD) after a rituximab-based treatment in the allogeneic hematopoietic stem cell transplant (HSCT) setting.  A total of 4466 allogeneic HSCTs performed between 1999 and 2011 in 19 European Group for Blood and Marrow Transplantation centers were retrospectively analyzed for PTLD, either biopsy-proven or probable disease.  One hundred forty-four cases of PTLD were identified, indicating an overall EBV-related PTLD frequency of 3.22%, ranging from 1.16% for matched-family donor, 2.86% for mismatched family donor, 3.97% in matched unrelated donors, and 11.24% in mismatched unrelated donor recipients. In total, 69.4% patients survived PTLD. Multivariable analysis showed that a poor response of PTLD to rituximab was associated with an age ≥30 years, involvement of extralymphoid tissue, acute GVHD, and a lack of reduction of immunosuppression upon PTLD diagnosis. In the prognostic model, the PTLD mortality increased with the increasing number of factors: 0-1, 2, or 3 factors being associated with mortality of 7%, 37%, and 72%, respectively (P disease, and acute graft-vs-host disease predicted poor outcome.

  5. The Presentation of Body Dysmorphic Disorder in Medical Settings

    Science.gov (United States)

    Phillips, Katharine A.

    2006-01-01

    Body dysmorphic disorder (BDD) is a relatively common psychiatric illness that often presents to mental health professionals as well as nonpsychiatric physicians. However, BDD usually goes unrecognized and undiagnosed in clinical settings. It is important to recognize and accurately diagnose BDD because this often secret illness may be debilitating. Patients with BDD typically have markedly impaired functioning, notably poor quality of life, and a high rate of suicidal ideation and suicide attempts. Thus, it is important to screen patients for BDD and avoid misdiagnosing it as another illness. Nonpsychiatric treatments (eg, dermatologic, surgical), which most patients seek and receive, appear ineffective for BDD and can be risky for physicians to provide. This article provides a clinically focused overview of BDD, including its symptoms, morbidity, case examples, nonpsychiatric (ie, cosmetic) treatment, diagnostic “do’s” and “don’ts,” and suggestions for how to persuade patients to accept appropriate psychiatric care. PMID:17183412

  6. Presentation of an acquired urea cycle disorder post liver transplantation.

    Science.gov (United States)

    Ghabril, Marwan; Nguyen, Justin; Kramer, David; Genco, Trina; Mai, Martin; Rosser, Barry G

    2007-12-01

    The liver's role as the largest organ of metabolism and the unique and often critical function of liver-specific enzyme pathways imply a greater risk to the recipient of acquiring a donor metabolic disease with liver transplants versus other solid organ transplants. With clinical consequences rarely reported, the frequency of solid organ transplant transfer of metabolic disease is not known. Ornithine transcarbamylase deficiency (OTCD), although rare, is the most common of the urea cycle disorders (UCDs). Because of phenotypic heterogeneity, OTCD may go undiagnosed into adulthood. With over 5000 liver transplant procedures annually in the United States, the likelihood of unknowingly transmitting OTCD through liver transplantation is very low. We describe the clinical course of a liver transplant recipient presenting with acute hyperammonemia and encephalopathy after receiving a liver graft form a donor with unrecognized OTCD. Copyright (c) 2007 AASLD.

  7. Pediatric Tourette Syndrome: A Tic Disorder with a Tricky Presentation.

    Science.gov (United States)

    Warsi, Qurratul; Kirby, Caroline; Beg, Mirza

    2017-01-01

    Dysphagia is a condition in which disruption of the swallowing process interferes with a patient's ability to eat. This may result in coughing or choking while swallowing, food sticking in the throat, or globus sensation. Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease with a varied clinical spectrum of symptoms including dysphagia. Tourette syndrome (TS) is an inherited neurological disorder that manifests itself as a series of motor and vocal tics and may include oropharyngeal dysphagia. Dysphagia as a result of TS generally affects female, elderly patients and is not reported in children. While the pathophysiology is relatively unknown, experts believe TS is closely linked to damage or abnormalities in the basal ganglia of the brain. We present this interesting pediatric case of dysphagia due to EoE, which had been previously thought to be related to the patient's TS.

  8. Pediatric Tourette Syndrome: A Tic Disorder with a Tricky Presentation

    Directory of Open Access Journals (Sweden)

    Qurratul Warsi

    2017-03-01

    Full Text Available Dysphagia is a condition in which disruption of the swallowing process interferes with a patient’s ability to eat. This may result in coughing or choking while swallowing, food sticking in the throat, or globus sensation. Eosinophilic esophagitis (EoE is a chronic immune-mediated disease with a varied clinical spectrum of symptoms including dysphagia. Tourette syndrome (TS is an inherited neurological disorder that manifests itself as a series of motor and vocal tics and may include oropharyngeal dysphagia. Dysphagia as a result of TS generally affects female, elderly patients and is not reported in children. While the pathophysiology is relatively unknown, experts believe TS is closely linked to damage or abnormalities in the basal ganglia of the brain. We present this interesting pediatric case of dysphagia due to EoE, which had been previously thought to be related to the patient’s TS.

  9. The association between obsessive compulsive disorder and obsessive compulsive personality disorder: prevalence and clinical presentation.

    Science.gov (United States)

    Gordon, Olivia M; Salkovskis, Paul M; Oldfield, Victoria B; Carter, Natalie

    2013-09-01

    The relationship between Obsessive Compulsive Disorder (OCD) and Obsessive Compulsive Personality Disorder (OCPD) has been the subject of interest for some time due to the historical assumption that OCPD causes OCD. This study systematically examined the association between OCD and OCPD in terms of prevalence and clinical presentation. The specificity of the association between OCD and OCPD was investigated relative to another axis I anxiety disorder (Panic disorder). Data for this study were drawn from measures taken at initial assessment at a specialist treatment centre for anxiety disorders. Of the 359 participants included in this study, 189 had a principal diagnosis of OCD, while 170 had a principal diagnosis of Panic disorder. Measures included SCID I and II interview modules and self-report measures of anxiety, depression, and OCD syptomatology. Significantly elevated rates of OCPD were found in OCD relative to Panic disorder. Regardless of axis I disorder, individuals with comorbid OCPD reported more severe depression relative to those without. Participants with both OCD and OCPD had greater self-reported OCD symptom severity, doubting, ordering, and hoarding symptoms at assessment relative to those without OCPD. Participants with OCD and comorbid OCPD also reported significantly higher levels of alcohol consumption. There appears to be a significant and specific association between OCD and OCPD. Co-occurring OCD and OCPD is associated with greater severity of impairment in terms of certain OCD symptoms. The significant and specific association between OCD and OCPD suggests that OCPD occurs more frequently with OCD than previously suggested. A comorbid OCPD diagnosis is associated with a greater degree of depression, regardless of axis I disorder, either OCD or Panic disorder. This is an important consideration, as depression can interfere with therapeutic progress (Foa, 1979). Participants with OCD and OCPD had greater self-reported OCD severity, along

  10. Esophageal motor and sensory disorders: presentation, evaluation, and treatment.

    Science.gov (United States)

    Massey, Benson T

    2007-09-01

    Esophageal motor and sensory disorders are relatively rare conditions in the general population and afflicted patients are often initially misdiagnosed as having gastroesophageal reflux disease. Tests for these disorders have imperfect gold standards and are adjuncts to sound diagnostic reasoning. Treatments are palliative and have not been rigorously evaluated for some disorders. Symptoms and complications from disease progression and relapse are common, so that patients need continued follow-up.

  11. Castleman′s Disease Presenting as Localized Abdominal Mass and Paraneoplastic Pemphigus

    Directory of Open Access Journals (Sweden)

    Santosh Kumar

    2016-01-01

    Full Text Available Castleman′s disease is a rare, benign lymphoproliferative disorder of unknown origin. Paraneoplastic pemphigus is a common association which presents as oral mucosal ulcerations. Abdominal and retroperitoneal Castleman′s disease present either as a localized disease or as a systemic disease. We hereby present a 15-year-old male patient with oral mucosal lesions with localized vague right lower abdominal mass who was diagnosed to have Castleman′s disease with paraneoplastic pemphigus which was surgically excised.

  12. Post-operative Adult Onset Tic Disorder: A Rare Presentation.

    Science.gov (United States)

    Upadhyaya, Suneet Kumar; Raval, Chintan M; Sharma, Devendra Kumar; Vijayvergiya, Devendra Kumar

    2014-10-01

    Tics are rapid and repetitive muscle contractions resulting in stereotype movements and vocalizations that are experienced as involuntary. Onset before 18-year is a diagnostic criterion for tic disorders. Children and adolescents may exhibit tic behaviors after a stimulus or in response to an internal urge. Tic behaviors increase during physical or an emotional stress. Adult onset tic disorders are reported by infections, drugs, cocaine, toxins, chromosomal disorders, head injury, stroke, neurocutaneous syndromes, neurodegenerative disorders and peripheral injuries. Only few cases have yet been reported having onset after surgery though surgery brings both physical and emotional stress to the patient. We report a case of a 55-year-old lady who developed tic disorder as post-operative event of cataract surgery. Our patient had a dramatic response to haloperidol which is in contrast to all earlier reports.

  13. Isolated Post-Transplantation Lymphoproliferative Disease Involving the Breast and Axilla as Peripheral T-cell Lymphoma

    OpenAIRE

    Hwang, Ji-Young; Cha, Eun Suk; Lee, Jee Eun; Sung, Sun Hee

    2013-01-01

    Post-transplantation lymphoproliferative disorders (PTLDs) are a heterogeneous group of diseases that represent serious complications following immunosuppressive therapy for solid organ or hematopoietic-cell recipients. In contrast to B-cell PTLD, T-cell PTLD is less frequent and is not usually associated with Epstein Barr Virus infection. Moreover, to our knowledge, isolated T-cell PTLD involving the breast is extremely rare and this condition has never been reported previously in the litera...

  14. Conversion (dissociative) symptoms as a presenting feature in early onset bipolar disorder: a case series

    OpenAIRE

    Ghosal, Malay Kumar; Guha, Prathama; Sinha, Mausumi; Majumdar, Debabrata; Sengupta, Payel

    2009-01-01

    We present three cases of early onset bipolar disorder where dissociative (conversion) symptoms preceded the onset of mania. This case series underscores the significance of dissociative/conversion symptoms as an early atypical presentation in juvenile bipolar disorder.

  15. Acute Movement Disorder as a Presenting Feature of Hyperglycemia

    African Journals Online (AJOL)

    This report will highlight the significance of movement disorder as an important clinical manifestation of hyperglycaemia particularly in elderly patients. It is a review of six (6) consecutive cases seen over a five year period (1999-2003) along with the relevant literature. Four (4) of the six patients were females aged 54, 65, ...

  16. Aggression in autism spectrum disorder: presentation and treatment options

    Directory of Open Access Journals (Sweden)

    Fitzpatrick SE

    2016-06-01

    Full Text Available Sarah E Fitzpatrick, Laura Srivorakiat, Logan K Wink, Ernest V Pedapati, Craig A Erickson Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA Abstract: Autism spectrum disorder (ASD is a neurodevelopmental disorder characterized by persistent difficulties in social communication and social interaction, coupled with restricted, repetitive patterns of behavior or interest. Research indicates that aggression rates may be higher in individuals with ASD compared to those with other developmental disabilities. Aggression is associated with negative outcomes for children with ASD and their caregivers, including decreased quality of life, increased stress levels, and reduced availability of educational and social support. Therapeutic strategies including functional behavioral assessment, reinforcement strategies, and functional communication training may have a significant impact in reducing the frequency and intensity of aggressive behavior in individuals with ASD. Pharmacologic treatments, particularly the use of second-generation antipsychotics, may also be of some benefit in reducing aggression in individuals with ASD. With the ever-increasing rate of ASD diagnosis, development of effective therapeutic and pharmacologic methods for preventing and treating aggression are essential to improving outcomes in this disorder. Keywords: autism, autism spectrum disorder, aggression, treatment, antipsychotics, applied behavior analysis

  17. Common Emotional and Behavioral Disorders in Preschool Children: Presentation, Nosology, and Epidemiology

    Science.gov (United States)

    Egger, Helen Link; Angold, Adrian

    2006-01-01

    We review recent research on the presentation, nosology and epidemiology of behavioral and emotional psychiatric disorders in preschool children (children ages 2 through 5 years old), focusing on the five most common groups of childhood psychiatric disorders: attention deficit hyperactivity disorders, oppositional defiant and conduct disorders,…

  18. Primary and secondary cutaneous CD30(+) lymphoproliferative disorders : a report from the Dutch Cutaneous Lymphoma Group on the long-term follow-up data of 219 patients and guidelines for diagnosis and treatment

    NARCIS (Netherlands)

    Bekkenk, MW; Geelen, FAMJ; Vader, PCV; Heule, F; Geerts, ML; van Vloten, WA; Meijer, CJLM; Willemze, R

    2000-01-01

    To evaluate our diagnostic and therapeutic guidelines, clinical and long-term follow-up data of 219 patients with primary or secondary cutaneous CD30(+) lympho proliferative disorders were evaluated. The study group included 118 patients with lymphomatoid papulosis (LyP; group 1), 79 patients with

  19. Pediatric Tourette Syndrome: A Tic Disorder with a Tricky Presentation

    OpenAIRE

    Qurratul Warsi; Caroline Kirby; Mirza Beg

    2017-01-01

    Dysphagia is a condition in which disruption of the swallowing process interferes with a patient's ability to eat. This may result in coughing or choking while swallowing, food sticking in the throat, or globus sensation. Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease with a varied clinical spectrum of symptoms including dysphagia. Tourette syndrome (TS) is an inherited neurological disorder that manifests itself as a series of motor and vocal tics and may include orophar...

  20. KLEPTOMANIA PRESENTING WITH MAJOR DEPRESSIVE DISORDER : A CASE REPORT

    OpenAIRE

    Sharma, R.C.

    1996-01-01

    A 35 year old, married, educated woman of well to do economic condition who was referred by court for psychiatric opinion was found to suffer from “Kleptomania” with “recurrent major depressive disorder.” The patient had been stealing and hoarding (at times giving away when caught) defective and useless objects for the past 3 years .mostly during periods of depression and had been arrested twice for stealing. Her kleplomanic symptoms improved moderately when her depression lifted with antidep...

  1. Castleman's disease presenting as a pleural tumor: a case report with CT findings.

    Science.gov (United States)

    Doo, Kyung Won; Kim, Bomi

    2018-02-01

    Castleman's disease (CD) is an uncommon benign lymphoproliferative disorder which most commonly involves the mediastinum but rarely affects the pleura. We report a case of unicentric CD that presents as a pleural mass in a 45-year-old man, which was subsequently resected followed by an unexpected diagnosis on histologic examination. Although rare, CD should be included in the differential diagnosis of well-enhancing pleural mass.

  2. Disruptive technology disorder: A past, present, and future neurologic syndrome.

    Science.gov (United States)

    Weaver, Donald F

    2017-07-25

    Based upon an analysis of 6 major historical technological advances over the last 150 years, a new syndrome, disruptive technology disorder (DTD), is introduced. DTD describes the human health ailments that accompany the implementation of disruptive technologies. Elevator sickness, railway spine, and bicycle face are representative examples. Though the underlying causative disruptive technologies may differ, many neurologic symptoms (headache, dizziness, weakness) are common to multiple DTDs. Born of technology-driven societal change, DTDs manifest as a complex interplay between biological and psychological symptoms. © 2017 American Academy of Neurology.

  3. Integrated cognitive behavioral therapy for patients with substance use disorder and comorbid ADHD: two case presentations

    NARCIS (Netherlands)

    van Emmerik-van Oortmerssen, Katelijne; Vedel, Ellen; van den Brink, Wim; Schoevers, Robert A.

    2015-01-01

    Two cases of integrated cognitive behavioral therapy (ICBT) for substance use disorder (SUD) and Attention Deficit Hyperactivity Disorder (ADHD) are presented illustrating that ICBT is a promising new treatment option

  4. Integrated cognitive behavioral therapy for patients with Substance Use Disorder and Comorbid ADHD : Two case presentations

    NARCIS (Netherlands)

    van Emmerik-van Oortmerssen, Katelijne; Vedel, Ellen; van den Brink, Wir; Schoevers, Robert A.

    Two cases of integrated cognitive behavioral therapy (ICBT) for substance use disorder (SUD) and Attention Deficit Hyperactivity Disorder (ADHD) are presented illustrating that ICBT is a promising new treatment option. (C) 2015 Elsevier Ltd. All rights reserved.

  5. Prevalence, Clinical Presentation, and Differential Diagnosis of Pediatric Bipolar Disorder

    Science.gov (United States)

    Goldstein, Benjamin I.; Birmaher, Boris

    2016-01-01

    Background Over the past 20 years, the evidence regarding pediatric bipolar disorder (BP) has increased substantially. As a result, recent concerns have focused primarily on prevalence and differential diagnosis. Method Selective review of the literature. Results BP as defined by rigorously applying diagnostic criteria has been observed among children and especially adolescents in numerous countries. In contrast to increasing diagnoses in clinical settings, prevalence in epidemiologic studies has not recently changed. BP-spectrum conditions among youth are highly impairing and confer high risk for conversion to BP-I and BP-II. Compared to adults, youth with BP have more mixed symptoms, more changes in mood polarity, are more often symptomatic and seem to have worse prognosis. The course, clinical characteristics, and comorbidities of BP among children and adolescents are in many ways otherwise similar to those of adults with BP. Nonetheless, many youth with BP receive no treatment and most do not receive BP-specific treatment. Conclusion Despite increased evidence supporting the validity of pediatric BP, discrepancies between clinical and epidemiologic findings suggest that diagnostic misapplication may be common. Simultaneously, low rates of treatment of youth with BP suggest that withholding of BP diagnoses may also be common. Clinicians should apply diagnostic criteria rigorously in order to optimize diagnostic accuracy and ensure appropriate treatment. PMID:22652925

  6. A Rare Disorder with Common Clinical Presentation: Neonatal Bartter Syndrome.

    Science.gov (United States)

    Hussain, Shabbir; Tarar, Saba Haider; Al-Muhaizae, Muhammad

    2015-04-01

    Bartter syndrome is an autosomal recessive renal tubulopathy that presents with hypokalemic, hypochloremic metabolic alkalosis associated with increased urinary loss of sodium, potassium, calcium and chloride. There is hyperreninemia and hyperaldosteronemia but normotension. A full term male neonate was referred at 20-day of age with features of sepsis and respiratory distress. He was evaluated and managed as case of septicemia with all supportive paraphernalia including mechanical ventilation. Investigations revealed electrolytes imbalance and metabolic alkalosis suggestive of Neonatal Bartter Syndrome (NBS). Raised aldosterone and renin levels confirmed the diagnosis. Electrolyte imbalance was corrected with fluids and indomethacin, treated successfully, discharged and parents counseled. He was thriving well at 9 months of age. Another 2 months old male baby presented with recurrent episodes of lethargy with dehydration and failure to gain weight. Investigations confirmed the diagnosis of NBS. He was also successfully treated with same medication. We report these 2 cases because of the rarity of NBS, presentation of which may mimic common illnesses like sepsis and gastroenteritis.

  7. Aerococcus christensenii native aortic valve subacute bacterial endocarditis (SBE) presenting as culture negative endocarditis (CNE) mimicking marantic endocarditis.

    Science.gov (United States)

    Jose, Anita; Cunha, Burke A; Klein, Natalie C; Schoch, Paul E

    2014-01-01

    This is a case report of an adult who presented with apparent culture negative endocarditis (CNE) thought to be marantic endocarditis due to a B-cell lymphoproliferative disorder. This was a most perplexing case and was eventually diagnosed as subacute bacterial endocarditis (SBE) due to a rare slow growing organism. Against the diagnosis of SBE was the lack of fever, hepatomegaly, peripheral manifestations and microscopic hematuria. Also, against a diagnosis of SBE was another explanation for the patient's abnormal findings, e.g., elevated ferritin levels, elevated α1/α2 globulins on SPEP, an elevated alkaline phosphatase, flow cytometry showing B-lymphocytes expressing CD5, and a bone lesion in the right iliac. Findings compatible with both SBE and marantic endocarditis due to a B-cell lymphoproliferative disorder included an elevated ESR, and splenomegaly. Blood cultures eventually became positive during hospitalization. We report a case of native aortic valve (AV) subacute bacterial endocarditis (SBE) due to Aerococcus christensenii mimicking marantic endocarditis due to a B-cell lymphoproliferative disorder. To the best of our knowledge, this is the first reported case of native AV SBE due to A. christensenii presenting as marantic endocarditis. Copyright © 2014 Elsevier Inc. All rights reserved.

  8. A case of enterobiasis presenting as post-traumatic-stress-disorder ...

    African Journals Online (AJOL)

    A case of enterobiasis presenting as post-traumatic-stress-disorder (PTSD): a curious case of the infection with predominant mental health symptoms, presenting for the first time in the settings of a refugee camp.

  9. Differences in clinical presentation between bipolar I and II disorders in the early stages of bipolar disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Mikkelsen, Rie Lambaek; Kirkegaard, Thomas

    2017-01-01

    Aim In a naturalistic clinical study of patients in the early stages of bipolar disorders the aim was to assess differences between patients with bipolar I (BD I) and bipolar II (BD II) disorders on clinical characteristics including affective symptoms, subjective cognitive complaints, functional...... level, the presence of comorbid personality disorders and coping strategies. Methods Diagnoses were confirmed using the Structured Clinical Interview for DSM-IV Disorders. Clinical symptoms were rated with the Young Mania Rating Scale and the Hamilton Depression Rating Scale, and functional status using...... Inventory for Stressful Situations. Results In total, 344 patients were included (BD I (n=163) and BD II (n=181). Patients with BD II presented with significantly more depressive symptoms, more cognitive complaints, lower overall functioning, and a higher prevalence of comorbid personality disorders...

  10. Interleukin-10 and posttransplant lymphoproliferative disorder after kidney transplantation

    DEFF Research Database (Denmark)

    Birkeland, S.A.; Bendtzen, K.; Moller, B.

    1999-01-01

    , and the type and duration of immunosuppression. Interleukin-10 (IL-10) is a pleiotropic cytokine, produced primarily by T-helper 2 (Th2) lymphocytes in the later stages of T-cell activation, suggested to play a role in EBV-associated PTLD, We recently reported preliminary findings on IL-10 in relation...... human recombinant IL-10 was employed; the assay is specific for human natural and viral IL-10, Results, Three patients experienced primary EBV infection, five reactivated EBV infections, and one did not change EBV status. Three patients had a fulminant course and died with EBV-associated PTLD; confirmed...... immunosuppression and are now in a state of operational tolerance. In three of four cases with initial lymphoma, EBV infection (primary or reactivation) preceded the increase in IL-10, In all four cases, the IL-10 increase preceded the PTLD diagnosis. In six cases, IL-10 could be followed after treatment showing...

  11. Human immunodeficiency virus negative Kaposi sarcoma and lymphoproliferative disorders

    NARCIS (Netherlands)

    Fossati, S; Boneschi, [No Value; Ferrucci, S; Brambilla, L

    1999-01-01

    BACKGROUND. The concomitant occurrence of more than one primary neoplasm in the same individual has led researchers to seek possible common etiopathogenetic factors. Kaposi sarcoma (KS) is a multicentric neoplasm of vascular origin and perhaps viral etiology. Four forms of KS are known: classic or

  12. Post-transplant lymphoproliferative disorder following kidney transplantation

    DEFF Research Database (Denmark)

    Maksten, Eva Futtrup; Vase, Maja Ølholm; Kampmann, Jan

    2016-01-01

    after long-term post-transplantation follow-up. A retrospective population-based cohort study including all kidney transplant recipients at two Danish centres (1990-2011; population covered 3.1 million; 2175 transplantations in 1906 patients). Pathology reports were reviewed for all patient biopsies...

  13. Isolated Post-Transplantation Lymphoproliferative Disease Involving the Breast and Axilla as Peripheral T-cell Lymphoma

    Energy Technology Data Exchange (ETDEWEB)

    Hwang, Ji-Young [Department of Radiology, Kangnam Sacred Heart Hospital, Hallym University College of Medicine, Seoul 150-950 (Korea, Republic of); Cha, Eun Suk; Lee, Jee Eun [Department of Radiology, Ewha Womans University School of Medicine, Seoul 158-710 (Korea, Republic of); Sung, Sun Hee [Department of Pathology, Ewha Womans University School of Medicine, Seoul 158-710 (Korea, Republic of)

    2013-07-01

    Post-transplantation lymphoproliferative disorders (PTLDs) are a heterogeneous group of diseases that represent serious complications following immunosuppressive therapy for solid organ or hematopoietic-cell recipients. In contrast to B-cell PTLD, T-cell PTLD is less frequent and is not usually associated with Epstein Barr Virus infection. Moreover, to our knowledge, isolated T-cell PTLD involving the breast is extremely rare and this condition has never been reported previously in the literature. Herein, we report a rare case of isolated T-cell PTLD of the breast that occurred after a patient had been treated for allogeneic peripheral blood stem cell transplantation due to acute myeloblastic leukemia.

  14. Isolated Post-Transplantation Lymphoproliferative Disease Involving the Breast and Axilla as Peripheral T-cell Lymphoma

    International Nuclear Information System (INIS)

    Hwang, Ji-Young; Cha, Eun Suk; Lee, Jee Eun; Sung, Sun Hee

    2013-01-01

    Post-transplantation lymphoproliferative disorders (PTLDs) are a heterogeneous group of diseases that represent serious complications following immunosuppressive therapy for solid organ or hematopoietic-cell recipients. In contrast to B-cell PTLD, T-cell PTLD is less frequent and is not usually associated with Epstein Barr Virus infection. Moreover, to our knowledge, isolated T-cell PTLD involving the breast is extremely rare and this condition has never been reported previously in the literature. Herein, we report a rare case of isolated T-cell PTLD of the breast that occurred after a patient had been treated for allogeneic peripheral blood stem cell transplantation due to acute myeloblastic leukemia

  15. Primary presentation of Jeune's syndrome as gastric motility disorder in an infant: A case report

    Directory of Open Access Journals (Sweden)

    Amit Katyan

    2018-01-01

    Full Text Available We report a case of a 4-week-old female neonate with Jeune's asphyxiating thoracic dystrophy (JATD and coexistent situs anomaly, primarily presenting as gastric motility disorder. The child presented with abdominal distension and nonbilious vomiting since birth with failure to thrive. However, skeletal survey revealed JATD. Upper gastrointestinal contrast study showed situs inversus with delayed gastric emptying. Pyloric biopsy and intraoperative antro-duodenal manometry confirmed association of gastric motility disorder. Awareness of the unusual possibility of primary presentation of Jeune syndrome as gastric motility disorder will improve the management approach in such infants.

  16. Webinar Presentation: Air Pollution and Autism Spectrum Disorder: What Do We Know and What Is Next?

    Science.gov (United States)

    This presentation, Air Pollution and Autism Spectrum Disorder: What Do We Know and What Is Next?, was given at the NIEHS/EPA Children's Centers 2015 Webinar Series: Brain Health held on Aug. 12, 2015.

  17. Venlafaxine-induced REM sleep behavioral disorder presenting as two fractures

    Directory of Open Access Journals (Sweden)

    R. Ryan Williams

    2017-10-01

    Full Text Available Rapid eye movement (REM sleep behavioral disorder is characterized by the absence of muscular atonia during REM sleep. In this disorder, patients can violently act out their dreams, placing them at risk for traumatic fractures during these episodes. REM sleep behavioral disorder (RBD can be a sign of future neurodegenerative disease and has also been found to be a side effect of certain psychiatric medications. We present a case of venlafaxine-induced RBD in a 55 year old female who presented with a 13 year history of intermittent parasomnia and dream enactment in addition to a recent history of two fractures requiring intervention.

  18. Venlafaxine-induced REM sleep behavioral disorder presenting as two fractures.

    Science.gov (United States)

    Ryan Williams, R; Sandigo, Gustavo

    2017-10-01

    Rapid eye movement (REM) sleep behavioral disorder is characterized by the absence of muscular atonia during REM sleep. In this disorder, patients can violently act out their dreams, placing them at risk for traumatic fractures during these episodes. REM sleep behavioral disorder (RBD) can be a sign of future neurodegenerative disease and has also been found to be a side effect of certain psychiatric medications. We present a case of venlafaxine-induced RBD in a 55 year old female who presented with a 13 year history of intermittent parasomnia and dream enactment in addition to a recent history of two fractures requiring intervention.

  19. Mucosal Healing and Risk of Lymphoproliferative Malignancy in Celiac Disease

    Science.gov (United States)

    Lebwohl, Benjamin; Granath, Fredrik; Ekbom, Anders; Smedby, Karin Ekström; Murray, Joseph A.; Neugut, Alfred I.; Green, Peter HR; Ludvigsson, Jonas F.

    2013-01-01

    Background Celiac disease (CD) is associated with an increased risk of lymphoproliferative malignancy (LPM). It is unknown whether this risk is affected by the results of the follow-up intestinal biopsy, performed to document mucosal healing. Objective To examine the association between mucosal healing in CD and later LPM. Design Population-based cohort study Setting We identified patients with CD from all of Sweden’s 28 pathology departments. Patients Individuals with CD who had a follow-up biopsy after initial diagnosis. Measurements We compared the risk of LPM to that of the general population using expected rates; and through Cox regression we compared the rate of LPM in those with persistent villous atrophy to those with mucosal healing. Results Among 7,625 patients with CD and a follow-up biopsy, persistent villous atrophy was present in 3,308 (43%). The overall risk of LPM was increased compared to the general population (Standardized incidence ratio, SIR 2.81; 95%CI 2.10–3.67), but this increase was greater among those with persistent villous atrophy (SIR 3.78; 95%CI 2.71–5.12) as compared to those with mucosal healing (SIR 1.50; 95%CI 0.77–2.62). Persistent villous atrophy compared to mucosal healing was associated with an increased risk of LPM (Hazard ratio, HR 2.26; 95%CI 1.18–4.34). We found an increased risk of T cell lymphoma (HR 3.51; 95%CI 0.75–16.34), but no excess risk of B cell lymphoma (HR 0.97; 95%CI 0.21–4.49). Limitation We had no data on dietary compliance. Conclusions The increased LPM risk in CD is associated with the results of the follow-up biopsy, with a higher risk among those with persistent villous atrophy. Follow-up biopsy may be a means to effectively stratify CD patients regarding subsequent LPM risk. Primary funding source the National Center for Advancing Translational Sciences, National Institutes of Health, The American Scandinavian Foundation, the Celiac Sprue Association, Örebro University Hospital, Karolinska

  20. Differences in clinical presentation between bipolar I and II disorders in the early stages of bipolar disorder: A naturalistic study.

    Science.gov (United States)

    Vinberg, Maj; Mikkelsen, Rie Lambaek; Kirkegaard, Thomas; Christensen, Ellen Margrethe; Kessing, Lars Vedel

    2017-01-15

    In a naturalistic clinical study of patients in the early stages of bipolar disorders the aim was to assess differences between patients with bipolar I (BD I) and bipolar II (BD II) disorders on clinical characteristics including affective symptoms, subjective cognitive complaints, functional level, the presence of comorbid personality disorders and coping strategies. Diagnoses were confirmed using the Structured Clinical Interview for DSM-IV Disorders. Clinical symptoms were rated with the Young Mania Rating Scale and the Hamilton Depression Rating Scale, and functional status using the Functional Assessment Short Test. Cognitive complaints were assessed using the Massachusetts General Hospital Cognitive and Physical Functioning Questionnaire, the presence of comorbid personality disorders using the Standardized Assessment of Personality - Abbreviated Scale and coping style using the Coping Inventory for Stressful Situations. In total, 344 patients were included (BD I (n=163) and BD II (n=181). Patients with BD II presented with significantly more depressive symptoms, more cognitive complaints, lower overall functioning, and a higher prevalence of comorbid personality disorders. Finally, they exhibited a trend towards using less adaptive coping styles. It cannot be omitted that some patients may have progressed from BD II to BD I. Most measures were based on patient self report. Overall, BD II was associated with a higher disease burden. Clinically, it is important to differentiate BD II from BD I and research wise, there is a need for tailoring and testing specific interventions towards BD II. Copyright © 2016 Elsevier B.V. All rights reserved.

  1. A Case of Sporadic Creutzfeldt-Jakob Disease Presenting as Conversion Disorder.

    Science.gov (United States)

    Yegya-Raman, Nikhil; Aziz, Rehan; Schneider, Daniel; Tobia, Anthony; Leitch, Megan; Nwobi, Onyi

    2017-01-01

    Background . Creutzfeldt-Jakob disease is a rare disorder of the central nervous system. Its initial diagnosis may be obscured by its variable presentation. This case report illustrates the complexity of diagnosing this disease early in the clinical course, especially when the initial symptoms may be psychiatric. It offers a brief review of the literature and reinforces a role for consultation psychiatry services. Methods . PUBMED/MEDLINE was searched using the terms "Creutzfeldt-Jakob disease", "psychiatric symptoms", "conversion disorder", "somatic symptom disorder", "functional movement disorder", and "functional neurologic disorder". Case . The patient was a 64-year-old woman with no prior psychiatric history who was initially diagnosed with conversion disorder and unspecified anxiety disorder but soon thereafter was discovered to have Creutzfeldt-Jakob disease. Discussion . This case highlights the central role of psychiatric symptoms in early presentations of Creutzfeldt-Jakob disease. Still, few other cases in the literature report functional neurological symptoms as an initial sign. The consultation psychiatrist must remain alert to changing clinical symptoms, especially with uncharacteristic disease presentations.

  2. Past, present, and future of iodine deficiency disorders in India: Need to look outside the blinkers

    Directory of Open Access Journals (Sweden)

    Gurmeet Kaur

    2017-01-01

    Full Text Available Iodine deficiency disorders (IDDs have been recognized as one of the major nutritional disorders throughout the world affecting 200 million people who are at risk and another 71 million suffering from goiter and other IDDs. These groups of disorders can affect every stage of life, but most vulnerable age group is between 6 and 12 years and these disorders together constitute the single largest preventable cause of brain damage leading to learning disabilities and psychomotor impairment. The existence of endemic goiter in an extensive belt along the southern slopes of the Himalayas, Alps, and Andes has long been described, but consistently high prevalence of IDDs outside the endemic zones and failure to attain goals set by the National Iodine Deficiency Disorder Control Program questions the strategy and achievements till date. Therefore, the present article is an attempt to critically examine the program since inception in India.

  3. Disseminated neurocysticercosis presenting as affective mood disorder with chronic tension type headache

    Directory of Open Access Journals (Sweden)

    Krishnarpan Chatterjee

    2013-01-01

    Full Text Available Neurocysticercosis is a common parasitic infection in India presenting usually with seizues, headache, focal neurological deficits. Neurocysticercosis presenting as a psychiatric illness is rare. Disseminated cysticercosis with involvement of central nervous system and head and neck muscles is rare even in endemic areas. We present a case of disseminated cysticercosis, which presented with chronic tension type headache and affective mood disorder. Treatment with cysticidal drugs led to complete remission of psychiatric complaints. In endemic areas history suggestive of mood disorder should not be used as supportive evidence of a primary headache syndome like tension type headche without ruling out secondary causes. Making an early diagnosis can prevent morbidity.

  4. Lingual dyskinesia and tics: a novel presentation of copper-metabolism disorder.

    Science.gov (United States)

    Goez, Helly R; Jacob, Francois D; Yager, Jerome Y

    2011-02-01

    Copper is a trace element that is required for cellular respiration, neurotransmitter biosynthesis, pigment formation, antioxidant defense, peptide amidation, and formation of connective tissue. Abnormalities of copper metabolism have been linked with neurologic disorders that affect movement, such as Wilson disease and Menkes disease; however, the diagnosis of non-Wilson, non-Menkes-type copper-metabolism disorders has been more elusive, especially in cases with atypical characteristics. We present here the case of an adolescent with a novel presentation of copper-metabolism disorder who exhibited acute severe hemilingual dyskinesia and prominent tics, with ballismus of the upper limbs, but had normal brain and spinal MRI results and did not show any signs of dysarthria or dysphagia. His serum copper and ceruloplasmin levels were low, but his urinary copper level was elevated after penicillamine challenge. We conclude that copper-metabolism disorders should be included in the differential diagnosis for movement disorders, even in cases with highly unusual presentations, because many of them are treatable. Moreover, a connection between copper-metabolism disorders and tics is presented, to our knowledge, for the first time in humans; further investigation is needed to better establish this connection and understand its underlying pathophysiology.

  5. Spectrum Of Inherited Metabolic Disorders In Pakistani Children Presenting At A Tertiary Care Centre

    International Nuclear Information System (INIS)

    Cheema, H. A.; Malik, H. S.; Parkash, A.; Fayyaz, Z.

    2016-01-01

    Objective: To determine the frequency, presentation and outcome of various inherited metabolic diseases in children presenting in a tertiary care hospital, Lahore, Pakistan. Study Design: An observational study. Place and Duration of Study: Gastroenterology, Hepatology and Nutrition Department of The Children Hospital and Institute of Child Health, Lahore, from January 2011 to October 2014. Methodology: All children aged < 14 years with high suspicion of a metabolic disorder were inducted. Routine and radiological investigation were carried out at the study place. Comprehensive diagnostic testing of particular metabolic disorder was sent abroad. Those with a specific metabolic disorder were included in the study while those with normal metabolic work-up were excluded. All data was collected on preformed proforma. Result: A total of 239 patients were enrolled. Nineteen different types of inherited metabolic disorders were diagnosed in 180 patients; age ranged from 8 days to 14 years. Consanguinity was positive in 175 (97 percentage) among the parents of the affected children, with previously affected siblings in 64 (35.5 percentage). The most frequent disorders were inherited disorders of carbohydrate metabolism (92, 51 percentage), lipid storage disease (59, 32.7 percentage), organic acidemia and energy defects (18, 10 percentage), amino acid disorder (6, 3.3 percentage), and miscellaneous (4, 2.2 percentage). Fifty-eight (32.2 percentage) presented with acute metabolic crisis, 28 (15.5 percentage) patients presented with early onset liver failure, and 24 (13.3 percentage) with mental retardation. Out of these, 16 (8.8 percentage) expired. Conclusion: Glycogen storage disorders being the commonest followed by Gaucher disease and Galactosemia. The associated complications resulted in high morbidity and mortality. (author)

  6. Immune-mediated neuropathy with Epstein-Barr virus-positive T-cell lymphoproliferative disease.

    Science.gov (United States)

    Hattori, Takaaki; Arai, Ayako; Yokota, Takanori; Imadome, Ken-Ichi; Tomimitsu, Hiroyuki; Miura, Osamu; Mizusawa, Hidehiro

    2015-01-01

    A 47-year-old man with Epstein-Barr virus (EBV)-positive T/NK- cell lymphoproliferative disease (EBV-T/NK-LPD) developed acute-onset weakness. A nerve conduction study showed a conduction block in both the proximal and most distal segments. Although the patient's neuropathy transiently responded to intravenous immunoglobulin, it was progressive for at least 25 days until the start of prednisolone (PSL) administration, after which it remarkably improved. The neuropathy further improved after allogeneic bone marrow transplantation (BMT). The present patient's clinical course is not consistent with that of typical Guillain-Barré syndrome. This case suggests that EBV-T/NK-LPD can cause progressive immune-mediated neuropathy as a result of chronic EBV antigen presentation and can be treated with PSL and BMT.

  7. A late-diagnosed phenylketonuria case presenting with autism spectrum disorder in early childhood.

    Science.gov (United States)

    Mazlum, Betül; Anlar, Banu; Kalkanoğlu-Sivri, H Serap; Karlı-Oğuz, Kader; Özusta, Şeniz; Ünal, Fatih

    2016-01-01

    Phenylketonuria is one of the most prevalent autosomal recessive hereditary disorders in Turkey. If untreated, it results in severe brain damage and can also be associated with autism in certain patients. We present a three-year old boy who exhibited the symptoms of autism and was subsequently diagnosed with phenylketonuria. This case illustrates that because the majority of autism cases are idiopathic, an occasional patient with a metabolic disorder might be overlooked especially in the era of newborn screening. We also discuss the possible pathogenetic processes leading to autistic symptoms in phenylketonuria, and wish to draw attention to the possibility of cases missed in the screening program because of less than 100% coverage or insufficient food intake before blood sampling. Clinicians should keep in mind the possibility of treatable disorders in children with autism even when such disorders appear unlikely.

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

    Science.gov (United States)

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

    2013-01-01

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

  9. Right hilar mass with hemoptysis: An unusual presentation of uncommon disorder

    Directory of Open Access Journals (Sweden)

    Asmita A Mehta

    2011-01-01

    Full Text Available Common differential diagnosis of lung and hilar opacity includes infectious pathology or a mitotic lesion. Behcet′s disease (BD is a rarely diagnosed disease in Indian subcontinent. BD is a multisystem inflammatory disorder that presents with recurrent orogenital ulceration, uveitis, and erythema nodosum. We present here the case of a patient who presented with recurrent hemoptysis with radiological picture of hilar mass, during the evaluation of which the diagnosis of BD was established.

  10. Adult systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease: A case report.

    Science.gov (United States)

    Wang, Youping; Liu, Xinyue; Chen, Yan

    2015-09-01

    Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease (EBV + T-LPD) occurs mainly in Asia and South America and is extremely rare in adults. The disease is characterized by a clonal proliferation of EBV-infected T cells with a cytotoxic immunophenotype and is associated with a poor clinical outcome and can be life-threatening. The majority of the patients have evidence of systemic disease, often with lymph node, liver and spleen involvement. The present study describes a case of adult systemic EBV + T-LPD with high fever, systemic lymphadenopathy, hepatosplenomegaly, nose-pharynx neoplasm, pancytopenia, EB virus infection and proliferative bone marrow, with the aim of improving the understanding of the condition.

  11. Parkinsonian syndromes presenting with circadian rhythm sleep disorder- advanced sleep-phase type.

    Science.gov (United States)

    Shukla, Garima; Kaul, Bhavna; Gupta, Anupama; Goyal, Vinay; Behari, Madhuri

    2015-01-01

    Circadian rhythm sleep disorder-advanced sleep-phase type is a relatively uncommon disorder, mostly seen among the elderly population. Impaired circadian rhythms have been reported in neurodegenerative conditions; however, there are no reports of any circadian rhythm sleep disorder among patients with Parkinsonian syndromes. We report two patients who presented with this circadian rhythm disorder, and were then diagnosed with a Parkinsonian syndrome. The cases. A 65-year-old retired man presented with history of abrupt change in sleep schedules, sleeping around 6.30-7 p.m. and waking up around 3-4 a.m. for the last 2 months. On detailed examination, the patient was observed to have symmetrical bradykinesia and cogwheel rigidity of limbs. A diagnosis of multiple system atrophy was made, supported by MRI findings and evidence of autonomic dysfunction. Symptoms of change in sleep-wake cycles resolved over the next 1 year, while the patient was treated with dopaminergic therapy. A 47-year-old man, who was being evaluated for presurgical investigation for refractory temporal lobe epilepsy, presented with complaints suggestive of dysarthria, bradykinesia of limbs and frequent falls for 5 months. Simultaneously, he began to sleep around 7 p.m. and wake up at about 2-3 a.m. Examination revealed severe axial rigidity, restricted vertical gaze and bradykinesia of limbs. A diagnosis of progressive supranuclear palsy was made. This is the first report of Parkinson's plus syndromes presenting with a circadian rhythm sleep disorder-advanced sleep-phase type. More prospective assessment for circadian sleep disorders may introduce useful insights into similar associations. Copyright 2015, NMJI.

  12. Challenges in the Evaluation for Possible Abuse: Presentations of Congenital Bleeding Disorders in Childhood

    Science.gov (United States)

    Jackson, Jami; Carpenter, Shannon; Anderst, Jim

    2012-01-01

    Objectives: To describe children with congenital bleeding disorders that present in a manner that may be concerning for non-accidental trauma (NAT), and to evaluate associations with disease and demographic characteristics. Methods: Ten year retrospective charts of subjects were reviewed at a Hemophilia Treatment Center. Demographic, historical,…

  13. The phenotypic spectrum of organic acidurias and urea cycle disorders Part 1: the initial presentation

    NARCIS (Netherlands)

    Kölker, Stefan; Garcia-Cazorla, Angeles; Cazorla, Angeles Garcia; Valayannopoulos, Vassili; Lund, Allan M.; Burlina, Alberto B.; Sykut-Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi-Vici, Carlo; Barić, Ivo; Karall, Daniela; Augoustides-Savvopoulou, Persephone; Aksglaede, Lise; Arnoux, Jean-Baptiste; Avram, Paula; Baumgartner, Matthias R.; Blasco-Alonso, Javier; Chabrol, Brigitte; Chakrapani, Anupam; Chapman, Kimberly; I Saladelafont, Elisenda Cortès; Couce, Maria L.; de Meirleir, Linda; Dobbelaere, Dries; Dvorakova, Veronika; Furlan, Francesca; Gleich, Florian; Gradowska, Wanda; Grünewald, Stephanie; Jalan, Anil; Häberle, Johannes; Haege, Gisela; Lachmann, Robin; Laemmle, Alexander; Langereis, Eveline; de Lonlay, Pascale; Martinelli, Diego; Matsumoto, Shirou; Mühlhausen, Chris; de Baulny, Hélène Ogier; Ortez, Carlos; Peña-Quintana, Luis; Ramadža, Danijela Petković; Rodrigues, Esmeralda; Scholl-Bürgi, Sabine; Sokal, Etienne; Staufner, Christian; Summar, Marshall L.; Thompson, Nicholas; Vara, Roshni; Pinera, Inmaculada Vives; Walter, John H.; Williams, Monique; Burgard, Peter

    2015-01-01

    Background The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorders (UCD) is variable; symptoms are often non-specific. Aims/methods To improve the knowledge about OAD and UCD the E-IMD consortium established a web-based patient registry. Results We registered 795

  14. Self-Presentation and the Role of Perspective Taking and Social Motivation in Autism Spectrum Disorder

    NARCIS (Netherlands)

    Scheeren, Anke M; Banerjee, Robin; Koot, Hans M; Begeer, Sander

    We compared self-presentation abilities of 132 children and adolescents with autism spectrum disorders (ASD) to those of 41 typically developing (TD) peers, and examined the potential link with their social motivation and perspective taking. Participants introduced themselves to an interviewer in a

  15. Brief Report: Self-Presentation of Children with Autism Spectrum Disorders

    Science.gov (United States)

    Begeer, Sander; Banerjee, Robin; Lunenburg, Patty; Terwogt, Mark Meerum; Stegge, Hedy; Rieffe, Carolien

    2008-01-01

    The self-presentational behaviour of 43 6- to 12-year-old children with high functioning autism spectrum disorders (HFASD) and normal intelligence and 43 matched comparisons was investigated. Children were prompted to describe themselves twice, first in a baseline condition and then in a condition where they were asked to convince others to select…

  16. Self-Presentation and the Role of Perspective Taking and Social Motivation in Autism Spectrum Disorder

    Science.gov (United States)

    Scheeren, Anke M.; Banerjee, Robin; Koot, Hans M.; Begeer, Sander

    2016-01-01

    We compared self-presentation abilities of 132 children and adolescents with autism spectrum disorders (ASD) to those of 41 typically developing (TD) peers, and examined the potential link with their social motivation and perspective taking. Participants introduced themselves to an interviewer in a baseline condition (without incentive) and a…

  17. Assessment of Theory of Mind in Children with Communication Disorders: Role of Presentation Mode

    Science.gov (United States)

    van Buijsen, Marit; Hendriks, Angelique; Ketelaars, Mieke; Verhoeven, Ludo

    2011-01-01

    Children with communication disorders have problems with both language and social interaction. The theory-of-mind hypothesis provides an explanation for these problems, and different tests have been developed to test this hypothesis. However, different modes of presentation are used in these tasks, which make the results difficult to compare. In…

  18. Excess of non-verbal cases of autism spectrum disorders presenting ...

    African Journals Online (AJOL)

    Objectives. Characteristics of children with autism spectrum disorders (ASDs) in Africa are not known because of unavailability of large-scale epidemiological studies in this region. This review explored the age at first presentation to orthodox clinical practice of African children with ASDs and their expressive language ability ...

  19. A case of peduncular hallucinosis presenting as a primary psychiatric disorder

    Directory of Open Access Journals (Sweden)

    Vasfiye Burcu Dogan

    2013-01-01

    Full Text Available Peduncular hallucinosis usually occurs due to vascular or infectious midbrain lesions or brain stem compression by tumors. We present a peduncular hallucinosis case in a 63-year-old female with brain stem infarction, which can easily be misdiagnosed as a psychiatric disorder.

  20. Self-presentation and the role of perspective taking and social motivation in autism spectrum disorder

    NARCIS (Netherlands)

    Scheeren, A.M.; Banerjee, Robin; Koot, Hans M.; Begeer, Sander

    2016-01-01

    We compared self-presentation abilities of 132 children and adolescents with autism spectrum disorders (ASD) to those of 41 typically developing (TD) peers, and examined the potential link with their social motivation and perspective taking. Participants introduced themselves to an interviewer in a

  1. Presentations

    International Nuclear Information System (INIS)

    2007-01-01

    The presented materials consist of presentations of international workshop which held in Warsaw from 4 to 5 October 2007. Main subject of the meeting was progress in manufacturing as well as research program development for neutron detector which is planned to be placed at GANIL laboratory and will be used in nuclear spectroscopy research

  2. Postoperative Conversion Disorder Presenting as Inspiratory Stridor and Hemiparesis in a Pediatric Patient.

    Science.gov (United States)

    Nelson, Erik J; Wu, Jennifer Y

    2017-01-17

    BACKGROUND Postoperative conversion disorder is rare and has been reported. The diagnosis is usually made after all major organic causes have been ruled out. CASE REPORT We describe a case of a 13-year-old female who presented in the post-anesthesia care unit with acute-onset inspiratory stridor and unresponsiveness to verbal or painful stimuli after receiving a general anesthetic for upper endoscopy. Later in the post-anesthesia care unit, she presented with acute-onset right hemiplegia and sensory loss. She was first evaluated for causes of her stridor and unresponsiveness. The evaluation revealed paradoxical vocal cord movement, and all laboratory test values were normal. For her hemiplegia and sensory loss, she was evaluated for stroke with head MRI and CT scans, which were normal. CONCLUSIONS After extensive workup and consideration of multiple etiologies for her presenting signs and symptoms, the most likely diagnosis was conversion disorder.

  3. Pediatric obsessive-compulsive disorder with tic symptoms: clinical presentation and treatment outcome.

    Science.gov (United States)

    Højgaard, Davíð R M A; Skarphedinsson, Gudmundur; Nissen, Judith Becker; Hybel, Katja A; Ivarsson, Tord; Thomsen, Per Hove

    2017-06-01

    Some studies have shown that children and adolescents with obsessive-compulsive disorder (OCD) and co-morbid tics differ from those without co-morbid tics in terms of several demographic and clinical characteristics. However, not all studies have confirmed these differences. This study examined children and adolescents with OCD and with possible or definite tic specifiers according to the DSM-5 in order to see whether they differ from patients without any tic symptoms regarding clinical presentation and outcome of cognitive behavioral therapy (CBT). The full sample included 269 patients (aged 7-17) with primary DSM-IV OCD who had participated in the Nordic Long-term Treatment Study (NordLOTS). Symptoms of tics were assessed using the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS-PL). One or more tic symptoms were found in 29.9% of participants. Those with OCD and co-morbid tic symptoms were more likely male, more likely to have onset of OCD at an earlier age, and differed in terms of OCD symptom presentation. More specifically, such participants also showed more symptoms of OCD-related impairment, externalization, autism spectrum disorder (ASD), social anxiety, and attention-deficit/hyperactivity disorder (ADHD). However, the two groups showed no difference in terms of OCD severity or outcome of CBT. Children and adolescents with OCD and co-morbid tic symptoms differ from those without tic symptoms in several aspects of clinical presentation, but not in their response to CBT. Our results underscore the effectiveness of CBT for tic-related OCD. Nordic Long-term Obsessive-Compulsive Disorder (OCD) Treatment Study; www.controlled-trials.com ; ISRCTN66385119.

  4. Presentations

    International Nuclear Information System (INIS)

    2007-01-01

    The PARIS meeting held in Cracow, Poland from 14 to 15 May 2007. The main subjects discussed during this meeting were the status of international project dedicated to gamma spectroscopy research. The scientific research program includes investigations of giant dipole resonance, probe of hot nuclei induced in heavy reactions, Jacobi shape transitions, isospin mixing and nuclear multifragmentation. The mentioned programme needs Rand D development such as new scintillations materials as lanthanum chlorides and bromides as well as new photo detection sensors as avalanche photodiodes - such subjects are also subjects of discussion. Additionally results of computerized simulations of scintillation detectors properties by means of GEANT- 4 code are presented

  5. Suicidality in pediatric bipolar disorder: predictor or outcome of family processes and mixed mood presentation?

    Science.gov (United States)

    Algorta, Guillermo Pérez; Youngstrom, Eric A; Frazier, Thomas W; Freeman, Andrew J; Youngstrom, Jennifer Kogos; Findling, Robert L

    2011-02-01

    Pediatric bipolar disorder (PBD) involves a potent combination of mood dysregulation and interpersonal processes, placing these youth at significantly greater risk of suicide. We examined the relationship between suicidal behavior, mood symptom presentation, family functioning, and quality of life (QoL) in youth with PBD. Participants were 138 youths aged 5-18 years presenting to outpatient clinics with DSM-IV diagnoses of bipolar I disorder (n=27), bipolar II disorder (n=18), cyclothymic disorder (n=48), and bipolar disorder not otherwise specified (n=45). Twenty PBD patients had lifetime suicide attempts, 63 had past or current suicide ideation, and 55 were free of suicide ideation and attempts. Attempters were older than nonattempters. Suicide ideation and attempts were linked to higher depressive symptoms, and rates were even higher in youths meeting criteria for the mixed specifier proposed for DSM-5. Both suicide ideation and attempts were associated with lower youth QoL and poorer family functioning. Parent effects (with suicidality treated as outcome) and child effects (where suicide was the predictor of poor family functioning) showed equally strong evidence in regression models, even after adjusting for demographics. These findings underscore the strong association between mixed features and suicidality in PBD, as well as the association between QoL, family functioning, and suicidality. It is possible that youths are not just a passive recipient of family processes, and their illness may play an active role in disrupting family functioning. Replication with longitudinal data and qualitative methods should investigate both child and parent effect models. © 2011 John Wiley and Sons A/S.

  6. Probiotics and Prebiotics: Present Status and Future Perspectives on Metabolic Disorders.

    Science.gov (United States)

    Yoo, Ji Youn; Kim, Sung Soo

    2016-03-18

    Metabolic disorders, including type 2 diabetes (T2DM) and cardiovascular disease (CVD), present an increasing public health concern and can significantly undermine an individual's quality of life. The relative risk of CVD, the primary cause of death in T2DM patients, is two to four times higher in people with T2DM compared with those who are non-diabetic. The prevalence of metabolic disorders has been associated with dynamic changes in dietary macronutrient intake and lifestyle changes over recent decades. Recently, the scientific community has considered alteration in gut microbiota composition to constitute one of the most probable factors in the development of metabolic disorders. The altered gut microbiota composition is strongly conducive to increased adiposity, β-cell dysfunction, metabolic endotoxemia, systemic inflammation, and oxidative stress. Probiotics and prebiotics can ameliorate T2DM and CVD through improvement of gut microbiota, which in turn leads to insulin-signaling stimulation and cholesterol-lowering effects. We analyze the currently available data to ascertain further potential benefits and limitations of probiotics and prebiotics in the treatment of metabolic disorders, including T2DM, CVD, and other disease (obesity). The current paper explores the relevant contemporary scientific literature to assist in the derivation of a general perspective of this broad area.

  7. Probiotics and Prebiotics: Present Status and Future Perspectives on Metabolic Disorders

    Science.gov (United States)

    Yoo, Ji Youn; Kim, Sung Soo

    2016-01-01

    Metabolic disorders, including type 2 diabetes (T2DM) and cardiovascular disease (CVD), present an increasing public health concern and can significantly undermine an individual’s quality of life. The relative risk of CVD, the primary cause of death in T2DM patients, is two to four times higher in people with T2DM compared with those who are non-diabetic. The prevalence of metabolic disorders has been associated with dynamic changes in dietary macronutrient intake and lifestyle changes over recent decades. Recently, the scientific community has considered alteration in gut microbiota composition to constitute one of the most probable factors in the development of metabolic disorders. The altered gut microbiota composition is strongly conducive to increased adiposity, β-cell dysfunction, metabolic endotoxemia, systemic inflammation, and oxidative stress. Probiotics and prebiotics can ameliorate T2DM and CVD through improvement of gut microbiota, which in turn leads to insulin-signaling stimulation and cholesterol-lowering effects. We analyze the currently available data to ascertain further potential benefits and limitations of probiotics and prebiotics in the treatment of metabolic disorders, including T2DM, CVD, and other disease (obesity). The current paper explores the relevant contemporary scientific literature to assist in the derivation of a general perspective of this broad area. PMID:26999199

  8. Probiotics and Prebiotics: Present Status and Future Perspectives on Metabolic Disorders

    Directory of Open Access Journals (Sweden)

    Ji Youn Yoo

    2016-03-01

    Full Text Available Metabolic disorders, including type 2 diabetes (T2DM and cardiovascular disease (CVD, present an increasing public health concern and can significantly undermine an individual’s quality of life. The relative risk of CVD, the primary cause of death in T2DM patients, is two to four times higher in people with T2DM compared with those who are non-diabetic. The prevalence of metabolic disorders has been associated with dynamic changes in dietary macronutrient intake and lifestyle changes over recent decades. Recently, the scientific community has considered alteration in gut microbiota composition to constitute one of the most probable factors in the development of metabolic disorders. The altered gut microbiota composition is strongly conducive to increased adiposity, β-cell dysfunction, metabolic endotoxemia, systemic inflammation, and oxidative stress. Probiotics and prebiotics can ameliorate T2DM and CVD through improvement of gut microbiota, which in turn leads to insulin-signaling stimulation and cholesterol-lowering effects. We analyze the currently available data to ascertain further potential benefits and limitations of probiotics and prebiotics in the treatment of metabolic disorders, including T2DM, CVD, and other disease (obesity. The current paper explores the relevant contemporary scientific literature to assist in the derivation of a general perspective of this broad area.

  9. HLA antigens and post renal transplant lymphoproliferative disease : HLA-B matching is critical

    NARCIS (Netherlands)

    Bakker, N.A.; van Imhoff, G.W.; Verschuuren, E.A.M.; van Son, W.J.; van der Heide, J.J.H.; Lems, S.P.M.; Veeger, N.J.G.M.; Kluin, P.M.; Kluin-Nelemans, Hanneke; Hepkema, B.G.

    2005-01-01

    Although several risk factors for posttransplant lymphoproliferative disease (PTLD) after solid organ transplantation have been identified, the immunosuppressive regimen probably as most important one, their exact pathogenic role and relevance is still unclear. In hematopoietic stem cell

  10. Presentation

    Directory of Open Access Journals (Sweden)

    Eduardo Vicente

    2013-06-01

    Full Text Available In the present edition of Significação – Scientific Journal for Audiovisual Culture and in the others to follow something new is brought: the presence of thematic dossiers which are to be organized by invited scholars. The appointed subject for the very first one of them was Radio and the invited scholar, Eduardo Vicente, professor at the Graduate Course in Audiovisual and at the Postgraduate Program in Audiovisual Media and Processes of the School of Communication and Arts of the University of São Paulo (ECA-USP. Entitled Radio Beyond Borders the dossier gathers six articles and the intention of reuniting works on the perspectives of usage of such media as much as on the new possibilities of aesthetical experimenting being build up for it, especially considering the new digital technologies and technological convergences. It also intends to present works with original theoretical approach and original reflections able to reset the way we look at what is today already a centennial media. Having broadened the meaning of “beyond borders”, four foreign authors were invited to join the dossier. This is the first time they are being published in this country and so, in all cases, the articles where either written or translated into Portuguese.The dossier begins with “Radio is dead…Long live to the sound”, which is the transcription of a thought provoking lecture given by Armand Balsebre (Autonomous University of Barcelona – one of the most influential authors in the world on the Radio study field. It addresses the challenges such media is to face so that it can become “a new sound media, in the context of a new soundscape or sound-sphere, for the new listeners”. Andrew Dubber (Birmingham City University regarding the challenges posed by a Digital Era argues for a theoretical approach in radio studies which can consider a Media Ecology. The author understands the form and discourse of radio as a negotiation of affordances and

  11. Bipolar II disorder as the initial presentation of CADASIL: an underdiagnosed manifestation

    Directory of Open Access Journals (Sweden)

    Wang J

    2017-08-01

    Full Text Available Jianjun Wang,1 Jinfang Li,2 Fanxin Kong,2 Hanqing Lv,3 Zhouke Guo2 1Department of Neurology and Psychology, the Fourth Clinical College, Guangzhou University of Chinese Medicine, Shenzhen, Guangdong, People’s Republic of China; 2Department of Neurology and Psychology, Shenzhen Hospital of Chinese Medicine, Shenzhen, Guangdong, People’s Republic of China; 3Medical Imaging Department, Shenzhen Hospital of Chinese Medicine, Shenzhen, Guangdong, People’s Republic of China Abstract: Mood disturbances have been documented in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL. The highly varied morbidity indicates that the affective symptoms in CADASIL have not been cataloged systematically, leading to ineffective treatment, affecting the patients’ quality of life, and possibly resulting in suicide. We present a case of CADASIL with bipolar II disorder as the first manifestation. A middle-aged female reported recurrent depressive episodes and appeared treatment resistant to adequate dosages and durations of antidepressants. Following a structured psychiatric interview and neuropsychological assessment, a past episode of hypomania was identified. Added treatment with sodium valproate alleviated most symptoms. Considering late-onset bipolar disorder with unexplained decline in cognition, a medical history of migraine, and a suspected family history of stroke, further cranial magnetic resonance imaging scan was performed and revealed severe leukoencephalopathy, prompting further investigation. The diagnosis was revised to CADASIL after Arg587Cys NOTCH3 mutation was confirmed. This case highlights the evolving process of affective disorder diagnosis and underlying organic etiologies. Based on the overlap of white matter hyperintensities, NOTCH3 mutation, and valproate therapy in bipolar disorder and CADASIL, bipolar II depression may be a poorly recognized manifestation of CADASIL. Well

  12. Clonality assessment of lymphoproliferative lesions using the polymerase chain reaction: An analysis of two methods

    Directory of Open Access Journals (Sweden)

    Nikhil Moorchung

    2011-01-01

    Full Text Available Background: Lymphoid malignancies are a heterogeneous group of disorders which may be difficult to differentiate from reactive proliferations even after immunohistochemistry. Polymerase chain reaction (PCR is believed to be a good adjunct tool for diagnosis. Materials and Methods: We examined 24 cases of neoplastic and non-neoplastic lymphoproliferative lesions in this study and evaluated the PCR as an additional tool in the confirmation of the diagnosis. Two different PCR methodologies were evaluated. Results: In the evaluation of the T-cell PCR, it was seen that the correlation using both the commercial kits and the custom-synthesized primers was highly significant at a P value of 0.05. Conclusions: Both the methods showed an excellent concordance for T-cell γ gene rearrangements, However, the same was not seen in the B-cell receptor rearrangements. This may be because of the small sample size or the inability of consensus V primers to recognize complementary DNA sequences in all of the V segments.

  13. Clinical presentation and outcome of avoidant/restrictive food intake disorder in a Japanese sample.

    Science.gov (United States)

    Nakai, Yoshikatsu; Nin, Kazuko; Noma, Shun'ichi; Hamagaki, Seiji; Takagi, Ryuro; Teramukai, Satoshi; Wonderlich, Stephen A

    2017-01-01

    We conducted a study of the clinical presentation and outcome in patients with avoidant/restrictive food intake disorder (ARFID), aged 15-40years, and compared this group to an anorexia nervosa (AN) group in a Japanese sample. A retrospective chart review was completed on 245 patients with feeding and eating disorders (FEDs), analyzing prevalence, clinical presentation, psychopathological properties, and outcomes. Using the DSM-5 criteria, 27 (11.0%) out of the 245 patients with a FED met the criteria for ARFID at entry. All patients with ARFID were women. In terms of eating disorder symptoms, all patients with ARFID had restrictive eating related to emotional problems and/or gastrointestinal symptoms. However, none of the ARFID patients reported food avoidance related to sensory characteristics or functional dysphagia. Additionally, none of them exhibited binge eating or purging behaviors, and none of them reported excessive exercise. The ARFID group had a significantly shorter duration of illness, lower rates of admission history, and less severe psychopathology than the AN group. The ARFID group reported significantly better outcome results than the AN group. These results suggest that patients with ARFID in this study were clinically distinct from those with AN and somewhat different from pediatric patients with ARFID in previous studies. Copyright © 2016 Elsevier Ltd. All rights reserved.

  14. Suspected bacterial meningomyelitis: The first presenting clinical feature of neuromyelitis optica spectrum disorder.

    Science.gov (United States)

    Li, Xiang; Lin, Jie; Pan, Sipei; Weng, Yiyun; Li, Jia; Zhang, Xu; Xia, Junhui; Tong, Qiaowen

    2017-08-15

    A rare case of neuromyelitis optica spectrum disorder, suspected to be bacterial meningomyelitis as the initial manifestation, is reported. The patient presented with initial symptoms of meningomyelitis and fever. Cerebrospinal fluid analysis revealed pleocytosis (1280×10 6 /L [98% lymphocytes]) and glucose level of 1.8mmol/L. Magnetic resonance imaging revealed >3 vertebral, longitudinally extensive transverse myelitis and area postrema lesions. Right optic neuritis was experienced 20months after the first attack. Serum anti-aquaporin-4 antibody was positive, and a diagnosis of neuromyelitis optica spectrum disorder was made, supporting the hypothesis that the pathogenesis of neuromyelitis optica is triggered by infection. Copyright © 2017. Published by Elsevier B.V.

  15. Study of compulsive buying in patients presenting obsessive-compulsive disorder.

    Science.gov (United States)

    Lejoyeux, Michel; Bailly, Florence; Moula, Hervé; Loi, Sabrina; Adès, Jean

    2005-01-01

    The authors assessed the prevalence of compulsive buying (CB) among patients presenting an obsessive-compulsive disorder (OCD). They compared the buying style of patients with and without CB. One thousand five hundred consecutive patients were assessed by a general practitioner in Paris (France). Sixty patients presenting with OCD were included. Patients with CB associated with OCD (n = 14) were compared with those with "pure" OCD (n = 46). Sixty patients paired for sex and age and free from OCD, depression, and anxiety were also recruited among the clients of the same general practitioner. We compared 3 groups: controls, patients with OCD, and patients with OCD + CB. Prevalence of CB was 23% (14 cases) among patients with OCD and 6% (4 cases) in controls (chi(2)(1) = 5.3, P = .02). Patients presenting with OCD + CB had a higher number of Diagnostic and Statistical Manual of Mental Disorders, Revised Fourth Edition diagnostic criteria for OCD than patients with pure OCD (6.1 and 5.4, respectively, P = .001). Depression was more frequent in the OCD + CB group (78%) than in the OCD group (42%) and in controls (10%) (P = .02). Patients from the OCD + CB group had higher score at the CAGE questionnaire than those of the OCD group (2 vs 0.7, P = .003). Patients with OCD + CB considered 42% of their purchases as occasions not to be passed up compared with 15.4% in the OCD group and 8.6% in controls. OCD+CD patients used the items they bought after a longer delay than controls and patients with pure OCD (8.2 vs 3 and 3.1 days, respectively). Compulsive buying is more frequent in OCD than in controls. Patients presenting with OCD + CB show more depressive disorders and drink more alcohol. They are more highly implicated in the items they buy and they are more often disappointed by the items once they possess them.

  16. Incidence, prevalence, diagnostic delay, and clinical presentation of female 46,XY disorders of sex development

    DEFF Research Database (Denmark)

    Berglund, Agnethe; Johannsen, Trine H; Krag, Kirstine Stochholm

    2016-01-01

    CONTEXT: The prevalence of phenotypic females with a 46,XY karyotype is low, thus current knowledge about age and clinical presentation at diagnosis is sparse even for the most frequent conditions, androgen insensitivity syndrome (AIS), and gonadal dysgenesis. OBJECTIVE: To estimate incidence......, prevalence, age at diagnosis, and clinical presentation at diagnosis in 46,XY females. DESIGN AND SETTING: A nationwide study covering all known females with a 46,XY karyotype in Denmark since 1960. The diagnosis of 46,XY disorder of sex development (DSD) was determined by medical record evaluation, data.......0-13.5; range, 0-34 y) in AIS and 17.0 years (95% confidence interval, 15.5-19.0; range, 0-28 y) in gonadal dysgenesis (P = .001). Clinical presentation was dependent on cause of DSD. CONCLUSIONS: The first estimate on prevalence of 46,XY females is 6.4 per 100 000 live born females. The presentation of AIS...

  17. Are eating disorders "all about control?" The elusive psychopathology of nonfat phobic presentations.

    Science.gov (United States)

    Murray, Helen B; Coniglio, Kathryn; Hartmann, Andrea S; Becker, Anne E; Eddy, Kamryn T; Thomas, Jennifer J

    2017-11-01

    There are a subset of individuals with eating disorders (EDs) who do not overevaluate body shape/weight (i.e., nonfat phobic ED; NFP-ED). According to the transdiagnostic cognitive-behavioral conceptualization of EDs, a need for control, in general, is hypothesized as the core psychopathology of NFP-EDs, with shape- and weight-related motivations for ED behavior merely superimposed in FP-ED presentations. This study tested the need for control as motivation for restriction in NFP-ED, using items aimed at assessing control from the Eating Disorder Examination (EDE) Restraint scale. Females ages 13-27 years consecutively admitted to residential treatment completed the EDE, Eating Disorder Inventory-3 Drive for Thinness subscale (EDI-DFT), and other self-report measures of psychopathology. We included patients with DSM-5 EDs, but excluded patients with avoidant/restrictive food intake disorder. Twenty participants had NFP-ED (≤14 on EDI-DFT) and 124 had fatphobic ED (FP-ED; >14 on EDI-DFT). NFP-ED scored significantly lower than FP-ED on EDE Restraint scale shape/weight [χ 2 (1) = 10.73-35.62, p's psychopathology and impairment. Findings suggest those with NFP-ED report lower psychopathology overall and the new EDE Restraint scale control items do not capture additional motivation for restriction beyond that captured in the original Restraint scale shape/weight items. Future research should examine whether this latter finding is due to a minimizing response style in NFP-ED, an incomplete capture of desire for control by the EDE assessment method, or indeed reflects that need for control does not motivate restriction in NFP-EDs. © 2017 Wiley Periodicals, Inc.

  18. Predicting early transition from sub-syndromal presentations to major mental disorders.

    Science.gov (United States)

    Cross, Shane P M; Scott, Jan; Hickie, Ian B

    2017-09-01

    Transition from at-risk state to full syndromal mental disorders is underexplored for unipolar and bipolar disorders compared with psychosis. Prospective, trans-diagnostic study of rates and predictors of early transition from sub-threshold to full syndromal mental disorder. One-year outcome of 243 consenting youth aged 15-25 years with a sub-syndromal presentation of a potentially severe mental disorder. Survival analysis and odds ratio (OR) for predictors of transition identified from baseline clinical and demographic ratings. About 17% ( n =36) experienced transition to a major mental disorder. Independent of syndromal diagnosis, transition was significantly more likely in individuals who were NEET (not in education, employment or training), in females and in those with more negative psychological symptoms (e.g. social withdrawal). NEET status and negative symptoms are modifiable predictors of illness trajectory across diagnostic categories and are not specific to transition to psychosis. I.B.H. has been a Commissioner in Australia's National Mental Health Commission since 2012. He was a board member of headspace: National Youth Mental Health Foundation until January 2012. He has led a range of community-based and pharmaceutical industry-supported depression awareness and education and training programmes. He has led projects for health professionals and the community supported by governmental, community agency and pharmaceutical industry partners (Wyeth, Eli Lilly, Servier, Pfizer, AstraZeneca) for the identification and management of depression and anxiety. He has received honoraria for presentations of his own work at educational seminars supported by a number of non-government organisations and the pharmaceutical industry (including Servier, Pfizer, AstraZeneca and Eli Lilly). He is a member of the Medical Advisory Panel for Medibank Private and also a board member of Psychosis Australia Trust. He leads an investigator-initiated study of the effects of

  19. Folie a deux and delusional disorder by proxy: an atypical presentation.

    Science.gov (United States)

    Daulatabad, Deepashree; Sonthalia, Sidharth; Srivastava, Ankur; Bhattacharya, Sambit Nath; Kaul, Subuhi; Moyal, Deepak

    2017-08-01

    Delusion of parasitosis is a rare condition characterised by an individual harbouring the delusion of being infested with insects or parasites. We report a rare and interesting case of delusion of parasitosis presenting as folie a deux, that is, the delusion is shared by both the parents of an 18-month-old child, with proxy projection of parental delusion on the child. The case highlights the rare concomitant occurrence of two psychocutaneous disorders and emphasizes the importance of early recognition and appropriate intervention to safeguard the well-being of the child. © 2016 The Australasian College of Dermatologists.

  20. Self-Presentation and the Role of Perspective Taking and Social Motivation in Autism Spectrum Disorder.

    Science.gov (United States)

    Scheeren, Anke M; Banerjee, Robin; Koot, Hans M; Begeer, Sander

    2016-02-01

    We compared self-presentation abilities of 132 children and adolescents with autism spectrum disorders (ASD) to those of 41 typically developing (TD) peers, and examined the potential link with their social motivation and perspective taking. Participants introduced themselves to an interviewer in a baseline condition (without incentive) and a self-promotion condition (with incentive). Children with ASD (6-12 years) were just as likely as or even more likely than TD children to highlight personal characteristics that would increase their chances of obtaining the incentive. Thus, they were strategic in their self-presentation. However, adolescents with ASD (12-19 years) were less strategic than TD adolescents as well as children with ASD. We discuss the role of social motivation and perspective taking in children's self-presentation.

  1. Serum levels of cortisol, dehydroepiandrosterone, and oxytocin in children with attention-deficit/hyperactivity disorder combined presentation with and without comorbid conduct disorder.

    Science.gov (United States)

    Işık, Ümit; Bilgiç, Ayhan; Toker, Aysun; Kılınç, Ibrahim

    2018-03-01

    The present study aimed to investigate serum cortisol, dehydroepiandrosterone (DHEA), and oxytocin levels of children with attention-deficit/hyperactivity disorder (ADHD) combined presentation and those diagnosed with ADHD combined presentation and coexisting conduct disorder. A total of 74 drug-naive children with ADHD combined presentation alone, 32 children with ADHD combined presentation + conduct disorder, and 42 healthy controls were included. The severities of ADHD and conduct disorder symptoms were assessed via parent- and teacher-rated questionnaires. The severity of aggression, anxiety, and depression symptoms of the children were assessed by the self-report inventories. Independent of potential confounders, including age, sex, pubertal stage, and severity of depression and anxiety, serum oxytocin levels of the ADHD combined presentation + conduct disorder group were significantly lower than those of both the ADHD combined presentation alone and control groups. There was also a trend for the ADHD combined presentation + conduct disorder group to show lower serum DHEA levels than that of the ADHD combined presentation alone group. However, serum cortisol levels did not show significant alterations among the groups. These findings suggest that oxytocin and DHEA may play a role in the pathophysiology of conduct disorder, at least in the presence of ADHD combined presentation. Copyright © 2018 Elsevier B.V. All rights reserved.

  2. Mode of presentation of patients of dissociative (conversion) disorder at the armed forces institute of mental health

    International Nuclear Information System (INIS)

    Jan, A.U.; Jehangir, S.

    2015-01-01

    To determine the mode of presentation of dissociative disorders presenting at Armed Forces Institute of Mental Health. Study Design: Cross sectional study. Place and Duration of Study: The study was conducted at the Armed Forces Institute of Mental Health (AFIMH) Rawalpindi from 1st June 2013 to 31st August 2013. Patients and Methods: Fifty four patients of dissociative disorders were included in the study by using consecutive non-probability sampling. Category of presentation of dissociative disorders in the participants was determined by the primary mode of presentation and by using international classification of diseases (ICD)-10 diagnostic guidelines. Results: The commonest type of presentation of dissociative disorders was mutism (40.7%), possession state (18.5%), pseudo fits (12.9%) followed by paraparesis (9.2%). Conclusion: Predominantly the patients presented with mutism (dissociative motor disorder). (author)

  3. Establishment and operation of a Good Manufacturing Practice-compliant allogeneic Epstein-Barr virus (EBV)-specific cytotoxic cell bank for the treatment of EBV-associated lymphoproliferative disease

    OpenAIRE

    Vickers, Mark A; Wilkie, Gwen M; Robinson, Nicolas; Rivera, Nadja; Haque, Tanzina; Crawford, Dorothy H; Barry, Jacqueline; Fraser, Neil; Turner, David M; Robertson, Victoria; Dyer, Phil; Flanagan, Peter; Newlands, Helen R; Campbell, John; Turner, Marc L

    2014-01-01

    Epstein-Barr virus (EBV) is associated with several malignancies, including post-transplant lymphoproliferative disorder (PTLD). Conventional treatments for PTLD are often successful, but risk organ rejection and cause significant side effects. EBV-specific cytotoxic T lymphocytes (CTLs) generated in vitro from peripheral blood lymphocytes provide an alternative treatment modality with few side effects, but autologous CTLs are difficult to use in clinical practice. Here we report the establis...

  4. Post-transplant lymphoproliferative disease in liver transplant recipients

    Directory of Open Access Journals (Sweden)

    Mercedes Rubio-Manzanares-Dorado

    Full Text Available Introduction: Post-transplant lymphoproliferative syndrome (PTLD is a rare and potentially life-threatening complication after liver transplantation. The aim of this study was to analyze the clinicopathologic features related to PTLD in a single institution after liver transplantation. Methods: Observational study where we have retrospectively analyzed 851 cases who underwent liver transplantation. Ten cases have developed PTLD. Their clinical-pathological characteristics and the treatment received have been analyzed. Results: PTLD incidence was 1.2% (10/851. The mean time from liver transplantation to PTLD diagnosis was 36 months (range 1.2 to 144 months. PTLD localization was extranodal in all cases, the most frequent location being intestinal. Seven cases showed a monomorphic lymphoma which in all cases was differentiated B cell lymphomas. Fifty per cent of the series were seropositive for Epstein-Barr virus. Five patients were alive at the time of the review. Among these patients, we observed three cases of complete remission and two cases of disease stabilization. The death rate was higher in the first year after diagnosis of PTLD. Conclusion: PTLD is a rare complication after liver transplantation, but it may pose a threat to the life of a liver transplant recipient. It is essential to identify patients at risk, to establish an early diagnosis and treatment that can change the outcome of the disease.

  5. Simultaneous branchial cleft and thyroid disorders may present a management challenge.

    Science.gov (United States)

    Harding, Jane L; Veivers, David; Sidhu, Stan B; Sywak, Mark S; Shun, Albert; Delbridge, Leigh W

    2005-09-01

    Cysts, sinuses or abscesses arising from second, third or fourth branchial cleft remnants may lie either within the body of, or in close proximity to the thyroid gland. Given their infrequent nature they may pose both diagnostic and management challenges for the treating surgeon when they occur in association with thyroid disorders. This is a case series. All patients with concomitant thyroid disorders and a branchial cleft anomaly treated in the University of Sydney Endocrine Surgical Unit in the 10-year period 1994-2003 comprised the study group. Patient demographics, clinical presentation, imaging, surgical management, definitive histology and outcomes were documented. Six patients were identified with an age range of 3-76 years and a male : female ratio of 1:5. Five branchial cleft anomalies were left sided, one was right sided. Two patients had second cleft anomalies, both of which were initially thought to represent metastatic lymph nodes in association with thyroid cancer. A further two patients had third cleft abnormalities presenting as suppurative thyroiditis. The final two patients had fourth cleft abnormalities causing intraoperative management problems. Branchial cleft remnants and anomalies are rare but may occur in association with thyroid disease. They may pose a diagnostic and management dilemma either preoperatively, when mistaken for metastatic thyroid cancer, or intraoperatively when mistaken for a thyroid nodule.

  6. Attention-deficit hyperactive disorder presenting with school truancy in an adolescent: a case report.

    Science.gov (United States)

    Muhammad, Noor Azimah; Wan Ismail, Wan Salwina; Tan, Chai Eng; Jaffar, Aida; Sharip, Shalisah; Omar, Khairani

    2011-12-01

    Attention-deficit hyperactive disorder (ADHD) is a psychiatric illness commonly diagnosed during the early years of childhood. In many adolescents with undiagnosed ADHD, presentation may not be entirely similar to that in younger children. These adolescents pose significant challenges to parents and teachers coping with their disability. Often adolescents with behavioural problems are brought to medical attention as a last resort. This case describes an adolescent who presented to a primary care clinic with school truancy. He was initially treated for depression with oppositional defiant disorder and sibling rivalry. Only following a careful detailed history and further investigations was the diagnosis of ADHD made. He showed a positive improvement with the use of methylphenidate for his ADHD and escitalopram for his depression. The success of his management was further supported by the use of behavioural therapy and parenting interventions. There is a need to increase public awareness of ADHD, especially among parents and teachers so that early intervention can be instituted in these children.

  7. A pictorial presentation of 3.0 Chicago Classification for esophageal motility disorders.

    Science.gov (United States)

    Herbella, Fernando Augusto; Armijo, Priscila Rodrigues; Patti, Marco Giuseppe

    2016-01-01

    High resolution manometry changed several esophageal motility paradigms. The 3.0 Chicago Classification defined manometric criteria for named esophageal motility disorders. We present a pictorial atlas of motility disorders. Achalasia types, esophagogastric junction obstruction, absent contractility, distal esophageal spasm, hypercontractile esophagus (jackhammer), ineffective esophageal motility, and fragmented peristalsis are depicted with high-resolution manometry plots. RESUMO A manometria de alta resolução mudou vários paradigmas da motilidade digestiva. A Classificação de Chicago, na versão 3.0, definiu critérios manométricos para as doenças da motilidade esofagiana. O presente artigo é um atlas das dismotilidades descritas. Tipos de acalásia, obstrução ao nível da junção esofagogástrica, contrações ausentes, espasmo esofagiano distal, esôfago hipercontrátil, motilidade esofagiana ineficaz e peristalse fragmentada são mostradas em traçados de manometria de alta resolução.

  8. Repetitive urges to inflict burns: An unusual presentation of impulse control disorder.

    Science.gov (United States)

    Pal, Arghya; Parmar, Arpit; Pattanayak, Raman Deep

    2016-01-01

    Impulse control disorders (ICDs) are characterized by an inability to resist an intense impulse or drive to perform a particular act that is excessive and/or harmful to self/others. Till date, there is no published report of an ICD presenting with repetitive urges to inflict burns. We describe the case of an adult male in regular follow-up for 6 months who presented with intense, irresistible, and repetitive urges and acts of causing burns on his skin for past 1 year. The phenomenology shared the core qualities described for ICDs and patient showed adequate response to treatment. The case report describes an unusual type of ICD classifiable as not otherwise specified. More clinical and research attention is warranted toward ICDs in general, with implications for ICD-11.

  9. Repetitive urges to inflict burns: An unusual presentation of impulse control disorder

    Directory of Open Access Journals (Sweden)

    Arghya Pal

    2016-01-01

    Full Text Available Impulse control disorders (ICDs are characterized by an inability to resist an intense impulse or drive to perform a particular act that is excessive and/or harmful to self/others. Till date, there is no published report of an ICD presenting with repetitive urges to inflict burns. We describe the case of an adult male in regular follow-up for 6 months who presented with intense, irresistible, and repetitive urges and acts of causing burns on his skin for past 1 year. The phenomenology shared the core qualities described for ICDs and patient showed adequate response to treatment. The case report describes an unusual type of ICD classifiable as not otherwise specified. More clinical and research attention is warranted toward ICDs in general, with implications for ICD-11.

  10. Impact of Substance Use Disorder on Presentation and Short-Term Course of Schizophrenia

    Directory of Open Access Journals (Sweden)

    Rudraprosad Chakraborty

    2014-01-01

    Full Text Available The aim of the present study was to compare a cohort of schizophrenia patients with substance use disorder (SUD with a similar cohort of schizophrenia patients without SUD with regard to sociodemographic variables, clinical variables, psychopathology, anxiety symptoms, depressive symptoms, treatment outcome, and side effect profile of drugs. A total of 143 consecutive inpatients with ICD-10 DCR diagnosis of schizophrenia were included after obtaining informed consent. Patients were evaluated by a semistructured data sheet and Maudsley Addiction Profile. They were then rated by Positive and Negative Symptoms Scale, Calgary Depression Scale, Hamilton Anxiety Rating Scale, and Brief Psychiatric Rating Scale at presentation, three weeks, and six weeks. At three weeks and six weeks, they were also evaluated by UKU Side Effect Rating Scale. Substance abuse was detected in 63.6% schizophrenia patients. Nicotine was the commonest substance followed by cannabis and alcohol. Substance users had longer untreated illness and more depressive symptoms at presentation and six-week follow-up. Dual diagnosis patients had difficulty in abstraction at three and six weeks but not at presentation. Schizophrenia patients with SUD had more depressive symptoms. SUD appeared to mask abstraction difficulties at presentation. Schizophrenia patients with SUD should be carefully assessed for presence of depression.

  11. [Treatment of eating disorders during hospitalization: presentation of a hospital intensive care program in pediatric age].

    Science.gov (United States)

    D'Argenio, L; Zaccagnino, M; Donati, C; Perini, A; Fazzi, E

    2013-04-01

    The aim of this study was to present a hospital intensive care program for patients affected by a severe eating disorders, with a significant loss of weight (BMI110 bpm or inability to sustain core body temperature), abnormal laboratory data, especially electrolyte imbalance and refusal to take food and fluids. In our study we reported 2 year follow-up of 16 patients treated with the hospital intensive care program between 2007 and 2008 in our department. The proposed program was proved an efficient method in a critical phase of the alimentary behavior disorders. It was possible for all the patients to avoid alternative feeding techniques (enteral or parenteral) and to obtain a correct alimentation with a satisfactory improvement of clinical conditions. Eight patients (50%) fully recovered. 5 patients (31.25%) had a significant improvement reaching a BMI>18.5 and one of them had a regular menstrual cycle, too. However in this group of patients a strict modality to alimentation and concern about weight and physical appearance remain. In 3 patients (18.5%) the BMI is still low and amenorrhea persists. The hospital intensive care program, inspired by the cognitive-behavioral model, through a food rehabilitation and a psychotherapeutic and psychoeducational help, lets the patients and their family understand and modify the dysfunctional patterns, experimenting a right modality to approach alimentation, with a satisfactory improvement in clinical conditions.

  12. In Vitro Evaluation of Colloidal Silver on Immune Function: Anti lymphoproliferative Activity

    International Nuclear Information System (INIS)

    Franco-Molina, M. A.; Mendoza-Gamboa, E.; Zarate-Trivino, D. G.; Coronado-Cerda, E.E.; Alcocer-Gonzalez, J. M.; Resendez-Perez, D.; Rodriguez-Salazar, M.C.; Rivera-Morales, L.G.; Tamez-Guerra, R.; Rodriguez-Padilla, C.

    2016-01-01

    Colloidal silver (AgC) is currently used by humans and it can be internalized through inhalation, injection, ingestion, and dermal contact. However, there is limited information about immunological activity; more investigations using colloidal silver are needed. In the present study, the effects of AgC (17.5 ng/m L) on immunological parameters (proliferation and immuno phenotyping) using human peripheral blood mononuclear cells (PBMC) and macrophages (phagocytosis) and cytotoxicity on leukemia and lymphoma cancer cell lines (1.75 to 17.5 ng/m L) were investigated. AgC was observed to significantly ρ) decrease interleukin-2 (I L-2) production and proliferation induced by phytohemagglutinin or concanavalin A in PBMC without affecting its cell viability but with cytotoxic effect on cancer cells. IL-2, IL-4, IL-6, IL-10, INF-γ, and IL_-17 A cytokines production and CD3"+, CD3"-CD19"+, CD3"+CD4"+, CD3"+CD8"+, and CD16"+CD56"+ PBMC phenotypes were not affected by AgC. The present study demonstrates that colloidal silver is harmless and nontoxic to the immune system cells and its ability to interfere with the immune response by decreasing cell proliferation when stimulated with mitogens demonstrated the anti lymphoproliferative potential of AgC

  13. Deregulated expression of HDAC9 in B cells promotes development of lymphoproliferative disease and lymphoma in mice

    Directory of Open Access Journals (Sweden)

    Veronica S. Gil

    2016-12-01

    Full Text Available Histone deacetylase 9 (HDAC9 is expressed in B cells, and its overexpression has been observed in B-lymphoproliferative disorders, including B-cell non-Hodgkin lymphoma (B-NHL. We examined HDAC9 protein expression and copy number alterations in primary B-NHL samples, identifying high HDAC9 expression among various lymphoma entities and HDAC9 copy number gains in 50% of diffuse large B-cell lymphoma (DLBCL. To study the role of HDAC9 in lymphomagenesis, we generated a genetically engineered mouse (GEM model that constitutively expressed an HDAC9 transgene throughout B-cell development under the control of the immunoglobulin heavy chain (IgH enhancer (Eμ. Here, we report that the Eμ-HDAC9 GEM model develops splenic marginal zone lymphoma and lymphoproliferative disease (LPD with progression towards aggressive DLBCL, with gene expression profiling supporting a germinal center cell origin, as is also seen in human B-NHL tumors. Analysis of Eμ-HDAC9 tumors suggested that HDAC9 might contribute to lymphomagenesis by altering pathways involved in growth and survival, as well as modulating BCL6 activity and p53 tumor suppressor function. Epigenetic modifications play an important role in the germinal center response, and deregulation of the B-cell epigenome as a consequence of mutations and other genomic aberrations are being increasingly recognized as important steps in the pathogenesis of a variety of B-cell lymphomas. A thorough mechanistic understanding of these alterations will inform the use of targeted therapies for these malignancies. These findings strongly suggest a role for HDAC9 in B-NHL and establish a novel GEM model for the study of lymphomagenesis and, potentially, preclinical testing of therapeutic approaches based on histone deacetylase inhibitors.

  14. Stopping the past from intruding the present: Social anxiety disorder and proactive interference.

    Science.gov (United States)

    Moore, Harry T A; Gómez-Ariza, Carlos J; Garcia-Lopez, Luis-Joaquín

    2016-04-30

    It has recently been suggested that social anxiety disorder (SAD) entails a deficit in downregulating unwanted (even non-threatening) memories. In the present study we test this hypothesis by comparing a sample of young adults diagnosed with SAD and healthy controls in their ability to resist proactive interference in a working memory task. Where participants performed similarly in the control condition of the memory task, participants with SAD were more susceptible to interference in the experimental condition than the healthy controls. This finding is in line with previous studies that show anxiety to be associated with impoverished executive control and, specifically, suggests that SAD entails a reduced ability to get rid of interfering memories. Clinical implications are discussed. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  15. Neural Correlates of Reflection on Present and Past Selves in Autism Spectrum Disorder.

    Science.gov (United States)

    Cygan, Hanna B; Marchewka, Artur; Kotlewska, Ilona; Nowicka, Anna

    2018-06-05

    Previous studies indicate that autobiographical memory is impaired in individuals with autism spectrum disorder (ASD). Successful recollection of information referring to one's own person requires the intact ability to re-activate representation of the past self. In the current fMRI study we investigated process of conscious reflection on the present self, the past self, and a close-other in the ASD and typically developing groups. Significant inter-group differences were found in the Past-Self condition. In individuals with ASD, reflection on the past self was associated with additional engagement of the posterior cingulate and posterior temporal structures. We hypothesize that this enhanced activation of widely distributed neural network reflects substantial difficulties in processes of reflection on one's own person in the past.

  16. Ambiguity in the Manifestation of Adult Separation Anxiety Disorder Occurring in Complex Anxiety Presentations: Two Clinical Case Reports

    Science.gov (United States)

    Dudaee-Faass, Sigal; Marnane, Claire; Wagner, Renate

    2009-01-01

    Two case reports are described in which patients presented for the treatment of multiple comorbid anxiety disorders, all of which appeared to derive from prolonged separation anxiety disorder. In particular, these adults had effectively altered their lifestyles to avoid separation, thereby displaying only ambiguous separation anxiety symptoms that…

  17. Variables influencing presenting symptoms of patients with eating disorders at psychiatric outpatient clinics.

    Science.gov (United States)

    Tseng, Mei-Chih Meg; Chen, Kuan-Yu; Chang, Chin-Hao; Liao, Shih-Cheng; Chen, Hsi-Chung

    2016-04-30

    Eating disorders (EDs) have been underdiagnosed in many clinical settings. This study investigates the influence of clinical characteristics on presenting symptoms of patients with EDs. Psychiatric outpatients, aged 18-45, were enrolled sequentially and received a two-phase survey for EDs in August 2010-January 2013. Their primary reasons for seeking psychiatric help were obtained at their first encounter with outpatient psychiatrists. Patients' clinical and demographic characteristics were compared according to presenting symptoms with or without eating/weight problems. Of 2140 patients, 348 (16.3%) were diagnosed with an ED (22.6% of women and 6.3% of men). The three most common reasons for seeking psychiatric help were eating/weight problems (46.0%), emotional problems (41.3%), and sleep disturbances (19.3%). The multivariate analyses suggest that when patients with EDs presented symptoms that were less related to eating/weight problems, they were significantly more likely to be those having diagnoses other than anorexia nervosa or bulimia nervosa and less severe degree of binge-eating. Further, patients with EDs who demonstrated more impulsive behaviors and poorer functioning were less likely to report their eating problems when visiting psychiatric clinics. Thus, ED should be assessed routinely in patients with complex psychopathology to facilitate comprehensive treatment. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  18. Impact of Gender, Age at Onset, and Lifetime Tic Disorders on the Clinical Presentation and Comorbidity Pattern of Obsessive-Compulsive Disorder in Children and Adolescents.

    Science.gov (United States)

    Tanidir, Canan; Adaletli, Hilal; Gunes, Hatice; Kilicoglu, Ali Guven; Mutlu, Caner; Bahali, Mustafa Kayhan; Aytemiz, Tugce; Uneri, Ozden Sukran

    2015-06-01

    Obsessive-compulsive disorder (OCD) is a heterogeneous disorder; therefore, there is a need for identifying more homogeneous subtypes. This study aimed to examine the clinical characteristics and comorbidity pattern of a large sample of pediatric OCD subjects, and to examine the impact of gender, age at onset, and lifetime tic disorders on the clinical presentation and comorbidity pattern. A total of 110 children and adolescents diagnosed with OCD were assessed using the Kiddle Schedule for Affective Disorders and Schizophrenia for School Age Children-Present and Lifetime Version (K-SADS-PL) for psychiatric comorbidity, and a clinical data form was filled out. The cutoff for differentiating prepubertal from adolescent onset was 11 years of age. A total of 83.6% of the subjects had at least one comorbid psychiatric disorder. Oppositional defiant disorder and contamination/somatic obsessions were significantly higher in males (p=0.036 and p=0.03, respectively) than in females. Depressive disorders and religious obsessions were significantly higher in the adolescent-onset group (p=0.02, p=0.05, respectively) whereas disruptive behavior disorders were higher in the prepubertal-onset group (p=0.037). Disruptive behavior disorders were significantly more frequent in the tic (+) group than in tic (-) group (p=0.021). There were differences in the comorbidity pattern and clinical expression between genders and between prepubertal and adolescent-onset cases. Findings of this study supported the introduction of tic-related OCD as a specifier in Diagnostic and Statistical Manual of Mental Disorders, 5th ed. (DSM-5), and the necessity of a detailed assessment of other psychiatric disorders in youth with OCD.

  19. [The first film presentation of REM sleep behavior disorder precedes its scientific debut by 35 years].

    Science.gov (United States)

    Janković, Slavko M; Sokić, Dragoslav V; Vojvodić, Nikola M; Ristić, Aleksandar J

    2006-01-01

    The perplexing and tantalizing disease of rapid eye movement (REM) sleep behavior disorder (RBD) is characterized by peculiar, potentially dangerous behavior during REM sleep. It was described both in animals and humans. RBD in mammals was first described by Jouvet and Delorme in 1965, based on an experimental model induced by lesion in pontine region of cats. In 1972, Passouant et al. described sleep with eye movements and persistent tonic muscle activity induced by tricyclic antidepressant medication, and Tachibana et al., in 1975, the preservation of muscle tone during REM sleep in the acute psychosis induced by alcohol and meprobamate abuse. wever, the first formal description of RBD in humans as new parasomnia was made by Schenck et al in 1986. Subsequently, in 1990, the International Classification of Sleep Disorders definitely recognized RBD as new parasomnia. To our knowledge, arts and literature do not mention RBD. Except for the quotation, made by Schenck et al [n 2002, of Don Quixote de la Mancha whose behavior in sleep strongly suggested that Miguel de Servantes actually described RBD, no other artistic work has portrayed this disorder. Only recently we become aware of the cinematic presentation of RBD which by decades precedes the first scientific description. The first presentation of RBD on film was made prior to the era of advanced electroencephalography and polysomnography, and even before the discovery of REM sleep by Aserinsky and Kleitman in 1953. The artistic and intuitive presentation of RBD was produced in Technicolor in a famous film "Cinderella" created by Walt Disney in 1950, some 35 years prior to its original publication in the journal "Sleep". Since there is an earlier version of the film initially produced in 1920, presumably containing this similar scene, we can only speculate that the first cinematic presentation of RBD might precede its scientific debut by 65 years. In a scene in a barn, clumsy and goofy dog Bruno is, as dogs

  20. [Intrafamilial disruptive behaviour disorders in children and adolescents: Present data and treatment prospects].

    Science.gov (United States)

    Bousquet, E; Franc, N; Ha, C; Purper-Ouakil, D

    2018-04-01

    Child-to-parent violence is a form of family violence that is still a well-kept secret. Abused parents can be victims of different types of abuse. Children can use both physical and psychological violence such as financial threats to take control of the home. In this situation, parents often no longer dare to contradict their children by fear of triggering uncontrollable violence. Although the phenomenon recently drew the attention of the media, there is still little knowledge about its prevalence and clinical characteristics. Most families remain isolated for a long time and, even in case of consulting in a mental health setting, disclosure of the nature of the difficulties is often delayed. This article presents the specificities of these children and their clinical characteristics. It also studies the victimized parents, the entire family, and their relation to the external environment. When observing these young offenders oppositional defiant disorder, conduct disorder and attention deficit hyperactivity disorder are frequently found. The diagnosis of "conduct disorder confined to family context" defined in the ICD 10 is the most appropriate to describe them. But it is regrettable that there has currently been no study to validate it and to determine its specificity. Compared with other young children who have "classic" disruptive disorders, children involved in violence against their parents have more difficulties with affect regulation, impulse control, and interpersonal skills. These children also frequently have low self-esteem and difficulties interacting with their peers. They may be isolated and bullied. They feel more sadness than these other young people and use violence as a way to express their emotions. Within the family both girls and boys commit violence against their parents. Girls will mostly use psychological violence but can also be involved in physical aggression. The first victim of child-to-parent violence is the mother. As mothers are

  1. A Rare Presentation of a Rare Disease: Pulmonary Lymphomatoid Granulomatosis

    Directory of Open Access Journals (Sweden)

    Ghulam Rehman Mohyuddin

    2012-01-01

    Full Text Available A 70-year-old female presented with a 4-week history of dry cough and wheezing. Chest radiograph showed a 10.5 cm mass-like density in the anterior mediastinum which had not been previously visualized. Computed tomography scan (CT of the chest showed a right hilar mass encasing and narrowing right upper lobe bronchus and right mainstem bronchus and secondary atelectatic changes. Biopsy was consistent with a diagnosis of lymphomatoid granulomatosis Grade 3. She responded well clinically and radiologically to therapy. Lymphomatoid granulomatosis is a rare EBV-associated disorder which is considered a lymphoproliferative disease. The most common radiographic feature is multiple lung nodules. An isolated hilar mass is an exceptionally rare presentation of this rare disease.

  2. Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development.

    Science.gov (United States)

    Berglund, Agnethe; Johannsen, Trine H; Stochholm, Kirstine; Viuff, Mette H; Fedder, Jens; Main, Katharina M; Gravholt, Claus H

    2016-12-01

    The prevalence of phenotypic females with a 46,XY karyotype is low, thus current knowledge about age and clinical presentation at diagnosis is sparse even for the most frequent conditions, androgen insensitivity syndrome (AIS), and gonadal dysgenesis. To estimate incidence, prevalence, age at diagnosis, and clinical presentation at diagnosis in 46,XY females. A nationwide study covering all known females with a 46,XY karyotype in Denmark since 1960. The diagnosis of 46,XY disorder of sex development (DSD) was determined by medical record evaluation, data from the Danish National Patient Registry, and genetic testing, if available. A total of 166 females registered as 46,XY females in the Danish Cytogenetic Central Registry were identified. A total of 124 females were classified as having 46,XY DSD, 78 with AIS and 25 with gonadal dysgenesis, whereas the remaining subjects had a variety of different diagnoses. The prevalence of 46,XY females was 6.4 per 100 000 live born females, and for AIS and gonadal dysgenesis, it was 4.1 and 1.5 per 100 000, respectively. Median age at diagnosis was 7.5 years (95% confidence interval, 4.0-13.5; range, 0-34 y) in AIS and 17.0 years (95% confidence interval, 15.5-19.0; range, 0-28 y) in gonadal dysgenesis (P = .001). Clinical presentation was dependent on cause of DSD. The first estimate on prevalence of 46,XY females is 6.4 per 100 000 live born females. The presentation of AIS and gonadal dysgenesis is distinctly different, with AIS being diagnosed during childhood and gonadal dysgenesis during pubertal years. The presenting phenotype is dependent on the cause of 46,XY DSD.

  3. Clinical presentation of pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections in research and community settings.

    Science.gov (United States)

    Swedo, Susan E; Seidlitz, Jakob; Kovacevic, Miro; Latimer, M Elizabeth; Hommer, Rebecca; Lougee, Lorraine; Grant, Paul

    2015-02-01

    The first cases of pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) were described >15 years ago. Since that time, the literature has been divided between studies that successfully demonstrate an etiologic relationship between Group A streptococcal (GAS) infections and childhood-onset obsessive-compulsive disorder (OCD), and those that fail to find an association. One possible explanation for the conflicting reports is that the diagnostic criteria proposed for PANDAS are not specific enough to describe a unique and homogeneous cohort of patients. To evaluate the validity of the PANDAS criteria, we compared clinical characteristics of PANDAS patients identified in two community practices with a sample of children meeting full research criteria for PANDAS. A systematic review of clinical records was used to identify the presence or absence of selected symptoms in children evaluated for PANDAS by physicians in Hinsdale, Illinois (n=52) and Bethesda, Maryland (n=40). RESULTS were compared against data from participants in National Institute of Mental Health (NIMH) research investigations of PANDAS (n=48). As described in the original PANDAS cohort, males outnumbered females (95:45) by ∼ 2:1, and symptoms began in early childhood (7.3±2.7 years). Clinical presentations were remarkably similar across sites, with all children reporting acute onset of OCD symptoms and multiple comorbidities, including separation anxiety (86-92%), school issues (75-81%), sleep disruptions (71%), tics (60-65%), urinary symptoms (42-81%), and others. Twenty of the community cases (22%) failed to meet PANDAS criteria because of an absence of documentation of GAS infections. The diagnostic criteria for PANDAS can be used by clinicians to accurately identify patients with common clinical features and shared etiology of symptoms. Although difficulties in documenting an association between GAS infection and symptom onset/exacerbations may

  4. Extensive metabolic disorders are present in APC(min) tumorigenesis mice.

    Science.gov (United States)

    Liu, Zhenzhen; Xiao, Yi; Zhou, Zhengxiang; Mao, Xiaoxiao; Cai, Jinxing; Xiong, Lu; Liao, Chaonan; Huang, Fulian; Liu, Zehao; Ali Sheikh, Md Sayed; Plutzky, Jorge; Huang, He; Yang, Tianlun; Duan, Qiong

    2016-05-15

    Wnt signaling plays essential role in mesenchymal stem cell (MSC) differentiation. Activation of Wnt signaling suppresses adipogenesis, but promotes osteogenesis in MSC. Adenomatous polyposis coli (APC) is a negative regulator of β-catenin and Wnt signaling activity. The mutation of APC gene leads to the activation of Wnt signaling and is responsible for tumorigenesis in APC(min) mouse; however, very few studies focused on its metabolic abnormalities. The present study reports a widespread metabolic disorder phenotype in APC(min) mice. The old APC(min) mice have decreased body weight and impaired adipogenesis, but severe hyperlipidemia, which mimic the phenotypes of Familial Adenomatous Polyposis (FAP), an inherited disease also caused by APC gene mutation in human. We found that the expression of lipid metabolism and free fat acids (FA) use genes in the white adipose tissue (WAT) of the APC(min) mice is much lower than those of control. The changed gene expression pattern may lead to the disability of circulatory lipid transportation and storage at WAT. Moreover, the APC(min) mice could not maintain the core body temperature in cold condition. PET-CT determination revealed that the BAT of APC(min) mice has significantly impaired ability to take up (18)FDG from the blood. Morphological studies identified that the brown adipocytes of APC(min) mice were filled with lipid droplets but fewer mitochondria. These results matched with the findings of impaired BAT function in APC(min) mice. Collectively, our study explores a new mechanism that explains abnormal metabolism in APC(min) mice and provides insights into studying the metabolic disorders of FAP patients. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  5. Early diagnosis of autism spectrum disorder: stability and change in clinical diagnosis and symptom presentation.

    Science.gov (United States)

    Guthrie, Whitney; Swineford, Lauren B; Nottke, Charly; Wetherby, Amy M

    2013-05-01

    Although a diagnosis of autism spectrum disorder (ASD) appears to be stable in children as young as age three, few studies have explored stability of a diagnosis in younger children. Predictive value of diagnostic tools for toddlers and patterns of symptom change are important considerations for clinicians making early diagnoses. Most findings come from high-risk samples, but reports on children screened in community settings are also needed. Stability of diagnosis and Autism Diagnostic Observation Schedule – Toddler Module (ADOS-T) classifications and scores was examined across two time points in a sample of 82 children identified through the FIRST WORDS Project.Children received two comprehensive diagnostic evaluations at average ages of 19.39 (SD = 2.12) and 36.89 (SD = 3.85) months. Stability was 100% when confirming and ruling out a diagnosis of ASD based on a comprehensive diagnostic evaluation that included clinic and home observations,although diagnosis was initially deferred for 17% of the sample. Receiver Operating Characteristic curves revealed excellent sensitivity and acceptable specificity for the ADOS-T compared to concurrent diagnosis. Logistic regressions indicated good predictive value of initial ADOS-T scores for follow-up diagnosis. Finally, both ASD and Non-ASD children demonstrated a decrease in Social Affect scores (i.e.,improvement), whereas children with ASD demonstrated an increase in Restricted and Repetitive Behavior scores (i.e., worsening), changes that were accounted for by nonverbal developmental level in mixed model analyses. Short-term stability was documented for children diagnosed at 19 months on average, although a minority of children initially showed unclear diagnostic presentations.Findings highlight utility of the ADOS-T in making early diagnoses and predicting follow-up diagnoses. Children with ASD demonstrated improvement in social communication behaviors and unfolding of repetitive behaviors, suggesting that certain

  6. Upper airway obstruction and pulmonary abnormalities due to lymphoproliferative disease following bone marrow transplantation in children

    Energy Technology Data Exchange (ETDEWEB)

    Fletcher, B.D. [Department of Diagnostic Imaging, St. Jude Children`s Research Hospital, 332 N. Lauderdale St., Memphis, TN 38105 (United States)]|[Departments of Radiology and Pediatrics, University of Tennessee, Memphis, Tennessee (United States); Heslop, H.E. [Department of Hematology/Oncology, St. Jude Children`s Research Hospital, Department of Pediatrics, University of Tennessee, Memphis, Tennessee (United States); Kaste, S.C. [Department of Diagnostic Imaging, St. Jude Children`s Research Hospital, Department of Radiology, University of Tennessee, Memphis, Tennessee (United States); Bodner, S. [Department of Pathology, St. Jude Children`s Research Hospital, Department of Pathology, University of Tennessee, Memphis, Tennessee (United States)

    1998-07-01

    We report three patients who developed severe supraglottic airway obstruction due to Epstein-Barr virus lymphoproliferative disease following allogeneic bone marrow transplantation. In addition to enlarged pharyngeal lymphoid tissue seen in all three patients, two had supraglottic airway narrowing and two developed pulmonary lymphoproliferative disease. They were treated with unmanipulated T cells or EBV-specific cytotoxic T lymphocytes. Life-threatening upper airway obstruction is a radiologically detectable complication of allogeneic bone marrow transplantation in children. (orig.) With 3 figs., 1 tab., 12 refs.

  7. Pituitary gigantism presenting with depressive mood disorder and diabetic ketoacidosis in an Asian adolescent.

    Science.gov (United States)

    Kuo, Sheng-Fong; Chuang, Wen-Yu; Ng, Sohching; Chen, Chih-Hung; Chang, Chen-Nen; Chou, Chi-Hsiang; Weng, Wei-Chieh; Yeh, Chih-Hua; Lin, Jen-Der

    2013-01-01

    Hyperglycemia is seldom described in young patients with pituitary gigantism. Here, we describe the case of a 17-year-old Taiwanese boy who developed depressive mood disorder and diabetic ketoacidosis (DKA) at the presentation of pituitary gigantism. The boy complained of lethargy and dysphoric mood in June 2008. He presented at the emergency department with epigastralgia and dyspnea in January 2009. Results of laboratory tests suggested type 1 diabetes mellitus with DKA. However, serum C-peptide level was normal on follow-up. Although he had no obvious features of acral enlargement, a high level of insulin-like growth factor 1 was detected, and a 75 g oral glucose suppression test showed no suppression of serum growth hormone levels. A pituitary macroadenoma was found on subsequent magnetic resonance imaging. The pituitary adenoma was surgically removed, followed by gamma-knife radiosurgery, and Sandostatin long-acting release treatment. He was then administered metformin, 500 mg twice daily, and to date, his serum glycohemoglobin has been <7%.

  8. The first film presentation of REM sleep behavior disorder precedes its scientific debut by 35 years

    Directory of Open Access Journals (Sweden)

    Janković Slavko M.

    2006-01-01

    Full Text Available The perplexing and tantalizing disease of rapid eye movement (REM sleep behavior disorder (RBD is characterized by peculiar, potentially dangerous behavior during REM sleep. It was described both in animals and humans. RBD in mammals was first described by Jouvet and Delorme in 1965, based on an experimental model induced by lesion in pontine region of cats [1]. In 1972, Passouant et al. described sleep with eye movements and persistent tonic muscle activity induced by tricyclic antidepressant medication [2], and Tachibana et al., in 1975, the preservation of muscle tone during REM sleep in the acute psychosis induced by alcohol and meprobamate abuse [3]. However, the first formal description of RBD in humans as new parasomnia was made by Schenck et al in 1986 [4-7]. Subsequently, in 1990, the International Classification of Sleep Disorders definitely recognized RBD as new parasomnia [8]. To our knowledge, arts and literature do not mention RBD. Except for the quotation, made by Schenck et al [6] in 2002, of Don Quixote de la Mancha whose behavior in sleep strongly suggested that Miguel de Servantes actually described RBD, no other artistic work has portrayed this disorder. Only recently we become aware of the cinematic presentation of RBD which by decades precedes the first scientific description. The first presentation of RBD on film was made prior to the era of advanced electroencephalography and polysomnography, and even before the discovery of REM sleep by Aserinsky and Kleitman in 1953. [9]. The artistic and intuitive presentation of RBD was produced in Technicolor in a famous film "Cinderella" created by Walt Disney in 1950, some 35 years prior to its original publication in the journal "Sleep" [2]. Since there is an earlier version of the film initially produced in 1920, presumably containing this similar scene, we can only speculate that the first cinematic presentation of RBD might precede its scientific debut by 65 years. In a scene

  9. Wilson?s disease presenting as rapid eye movement sleep behavior disorder: a possible window to early treatment

    Directory of Open Access Journals (Sweden)

    Gotthard G. Tribl

    2014-09-01

    Full Text Available Objective To describe characteristics of REM sleep behavior disorder in Wilson’s disease. Method Questionnaire-based interviews (patients and relatives, neurological examinations, two-week prospective dream-diary, video-polysomnography, transcranial sonography, MRI. Results Four Wilson’s disease cases with REM sleep behavior disorder were described; three had REM sleep behavior disorder as initial symptom. All showed mesencephalic tegmental/tectal sonographic hyperechogenicities and two presented ponto-mesencephalic tegmental MRI hyperintensities. Conclusion This first description of REM sleep behavior disorder in Wilson’s disease in literature documents REM sleep behavior disorder as a possible presenting symptom of Wilson’s disease and adds further evidence to the parallelism of Parkinson’s disease and Wilson’s disease in phenotype and brainstem topography, which ought to be further studied. REM sleep behavior disorder has prognostic relevance for neurodegeneration in α-synucleinopathies. In Wilson’s disease, usefulness of early diagnosis and treatment are already well established. REM sleep behavior disorder in Wilson’s disease offers a possible theoretical model for potential early treatment in this extrapyramidal and brainstem paradigm syndrome, previewing the possibility of neuroprotective treatment for REM sleep behavior disorder in “pre-clinical” Parkinson’s disease.

  10. Annual Research Review: Attachment Disorders in Early Childhood--Clinical Presentation, Causes, Correlates, and Treatment

    Science.gov (United States)

    Zeanah, Charles H.; Gleason, Mary Margaret

    2015-01-01

    Background: Though noted in the clinical literature for more than 50 years, attachment disorders have been studied systematically only recently. In part because of the ubiquity of attachments in humans, determining when aberrant behavior is best explained as an attachment disorder as opposed to insecure attachment has led to some confusion. In…

  11. Body attitudes in patients with eating disorders at presentation and completion of intensive outpatient day treatment.

    NARCIS (Netherlands)

    Exterkate, C.C.; Vriesendorp, P.F.; Jong, C.A.J. de

    2009-01-01

    Due to the importance of the distorted body experience in eating disorder diagnosis and treatment, we wanted to explore body attitudes of patients with eating disorders before and after 5 months of intensive specialized outpatient day treatment. We assessed 193 patients diagnosed with Anorexia

  12. PTSD symptom presentation among people with alcohol and drug use disorders: Comparisons by substance of abuse.

    Science.gov (United States)

    Dworkin, Emily R; Wanklyn, Sonya; Stasiewicz, Paul R; Coffey, Scott F

    2018-01-01

    Posttraumatic stress disorder (PTSD) and substance use disorders (SUDs) commonly co-occur, and there is some evidence to suggest that PTSD symptom clusters are differentially related to various substances of abuse. However, few studies to date have compared PTSD symptom patterns across people with different types of SUDs, and fewer still have accounted for the presence of comorbidity across types of SUDs in understanding symptom patterns. Thus, in the current study, we use a treatment-seeking sample of people with elevated symptoms of PTSD and problem alcohol use to explore differential associations between past-year SUDs with active use and PTSD symptoms, while accounting for the presence of multiple SUDs. When comparing alcohol and drug use disorders, avoidance symptoms were elevated in those with alcohol use disorder, and hyperarousal symptoms were elevated in those who had a drug use disorder. In the subsample with alcohol use disorder, hyperarousal symptoms were elevated in people with co-occurring cocaine use disorders and numbing symptoms were elevated in people with co-occurring sedative/hypnotic/anxiolytic use disorder. These findings provide evidence for different symptom cluster patterns between PTSD and various types of SUDs and highlight the importance of examining the functional relationship between specific substances of abuse when understanding the interplay between PTSD and SUDs. Copyright © 2017 Elsevier Ltd. All rights reserved.

  13. Ten-year prevalence of mental disorders in patients presenting with chronic pain in secondary care

    DEFF Research Database (Denmark)

    Søndergård, S; Vaegter, H B; Erlangsen, A

    2018-01-01

    BACKGROUND: Prevalence rates of mental disorders in patients with chronic pain vary and may be overestimated when assessed by screening instruments only. Objectives were to estimate the 10-year prevalence of different mental disorders diagnosed by psychiatrists in patients with chronic pain compa...

  14. INABILITY TO WITHSTAND PRESENT-MOMENT EXPERIENCES IN BORDERLINE PERSONALITY DISORDER: A META-ANALYTIC REVIEW

    Directory of Open Access Journals (Sweden)

    Marco Cavicchioli

    2015-08-01

    Full Text Available Objective: Recently, some studies have been examining the relationship between Borderline Personality Disorder (BPD features and Experiential Avoidance (EA, Thought Suppression (TS and Distress Intolerance (DI. This interest arose from data which showed a strong link between the previous constructs and problematic behaviors (e.g. self-harm related to BPD. These dimensions describe a more general inability to withstand undesirable present-moment experiences. The aims of this work are to evaluate the extent of this problem in BPD and to hypothesize if it would be considered another core feature of BPD in addition to emotion dysregulation. Method: We included studies which show relationships between BPD features and EA, TS, DI, using valid and reliable instruments (e.g. PAI-BOR; AAQ; WBSI; DTS. Cohen’s d was computed as effect size measure. Overall pooled effect sizes (dw was estimated. Heterogeneity in effect sizes was computed using Q statistic and I² index. We proposed multiple comparisons of each outcome variable using Bonferroni correction. Bias publication was evaluated (Egger’s regression. Results: The final sample included 21 studies (4823 subjects. Large effect sizes were found in general inability to withstand present-moment experiences (dw= 0,92, EA (dw= 0,98 and TS (dw= 1,04. Medium effect size emerged in DI (dw= 0,60. It was observed high heterogeneity for overall effect size (I² =79,51%. Publication bias was not detected. Further, DI was significantly less manifest than EA and TS in BPD. Conclusions: These results show that the inability to withstand present-moment experiences is largely manifest in BPD and they suggest that this difficulty it might represent another core feature of BPD. These findings support mindfulness-based intervention in treating BPD. In addition, future research will be necessary to explain the relationship between emotion dysregulation, EA, TS and DI.

  15. Addison's Disease and Possible Cannabis Withdrawal Syndrome Presenting as an Eating Disorder in a Thirty-Year-Old Female.

    Science.gov (United States)

    Lazare, Kimberly

    2017-01-01

    A 30-year-old female with a history of anxiety, cannabis use, and Avoidant/Restrictive Food Intake Disorder presented for residential treatment of a Cannabis Use Disorder. Upon arrival, she had not eaten for two days and was found to be hypotensive with electrolyte disturbances. She was admitted to a nearby hospital, where the Internist diagnosed her with Addison's disease. She was treated with corticosteroid therapy, with rapid normalization of her electrolytes, eating, and anxiety. This is the first published case of undiagnosed Addison's disease presenting as an eating disorder, with cannabis use likely contributing to symptoms. This case elucidates the importance of ruling out other biologic and psychologic causes of clinical presentations before an eating disorder diagnosis can be made.

  16. Body attitudes in patients with eating disorders at presentation and completion of intensive outpatient day treatment.

    Science.gov (United States)

    Exterkate, Cecile C; Vriesendorp, Patricia F; de Jong, Cor A J

    2009-01-01

    Due to the importance of the distorted body experience in eating disorder diagnosis and treatment, we wanted to explore body attitudes of patients with eating disorders before and after 5 months of intensive specialized outpatient day treatment. We assessed 193 patients diagnosed with Anorexia Nervosa (AN), Bulimia Nervosa (BN) and Eating Disorder Not Otherwise Specified (EDNOS) using the Body Attitude Test (BAT), Body Mass Index (BMI), Eating Disorder Evaluation Scale (EDES) and Symptom Checklist 90 (SCL-90). Eating disorder subtypes differed in BMI, total body attitudes and negative appreciation of body size at intake, but not at termination of treatment. Following treatment, all patient groups reported large improvements in eating disorder pathology and all but the AN-Restrictive (AN-R) group, reported large improvements in overall psychological functioning. The AN patients demonstrated significant improvement in BMI, however the Anorexia Nervosa purging (AN-P) and Anorexia Nervosa restrictive (AN-R) subtypes differed in their changes in body attitudes. AN-R patients indicated no significant improvement in body attitudes. AN-P patients improved in total body attitudes, except one subscale. Patients with Bulimia Nervosa non-purging (BN-NP) subtype, Bulimia Nervosa purging (BN-P) subtype and EDNOS demonstrated similar improvements in total body attitudes (BAT). Body attitudes provide important insights into differences between eating disorder diagnostic categories and their treatment responsiveness.

  17. Clinical Presentation of Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections in Research and Community Settings

    Science.gov (United States)

    Seidlitz, Jakob; Kovacevic, Miro; Latimer, M. Elizabeth; Hommer, Rebecca; Lougee, Lorraine; Grant, Paul

    2015-01-01

    Abstract Background: The first cases of pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) were described>15 years ago. Since that time, the literature has been divided between studies that successfully demonstrate an etiologic relationship between Group A streptococcal (GAS) infections and childhood-onset obsessive-compulsive disorder (OCD), and those that fail to find an association. One possible explanation for the conflicting reports is that the diagnostic criteria proposed for PANDAS are not specific enough to describe a unique and homogeneous cohort of patients. To evaluate the validity of the PANDAS criteria, we compared clinical characteristics of PANDAS patients identified in two community practices with a sample of children meeting full research criteria for PANDAS. Methods: A systematic review of clinical records was used to identify the presence or absence of selected symptoms in children evaluated for PANDAS by physicians in Hinsdale, Illinois (n=52) and Bethesda, Maryland (n=40). Results were compared against data from participants in National Institute of Mental Health (NIMH) research investigations of PANDAS (n=48). Results: As described in the original PANDAS cohort, males outnumbered females (95:45) by ∼ 2:1, and symptoms began in early childhood (7.3±2.7 years). Clinical presentations were remarkably similar across sites, with all children reporting acute onset of OCD symptoms and multiple comorbidities, including separation anxiety (86–92%), school issues (75–81%), sleep disruptions (71%), tics (60–65%), urinary symptoms (42–81%), and others. Twenty of the community cases (22%) failed to meet PANDAS criteria because of an absence of documentation of GAS infections. Conclusions: The diagnostic criteria for PANDAS can be used by clinicians to accurately identify patients with common clinical features and shared etiology of symptoms. Although difficulties in documenting an association

  18. Overdose of drugs for attention-deficit hyperactivity disorder: clinical presentation, mechanisms of toxicity, and management.

    Science.gov (United States)

    Spiller, Henry A; Hays, Hannah L; Aleguas, Alfred

    2013-07-01

    The prevalence of attention-deficit hyperactivity disorder (ADHD) in the USA is estimated at approximately 4-9% in children and 4% in adults. It is estimated that prescriptions for ADHD medications are written for more than 2.7 million children per year. In 2010, US poison centers reported 17,000 human exposures to ADHD medications, with 80% occurring in children cause an increase in extracellular concentrations of dopamine, norepinephrine, and serotonin in the neocortex. Overdose with modafinil is generally of moderate severity, with reported ingestions of doses up to 8 g. The most common neurological effects include increased anxiety, agitation, headache, dizziness, insomnia, tremors, and dystonia. The management of modafinil overdose is largely supportive, with a focus on sedation, and control of dyskinesias and blood pressure. Atomoxetine is a selective presynaptic norepinephrine transporter inhibitor. The clinical presentation after overdose with atomoxetine has generally been mild. The primary effects have been drowsiness, agitation, hyperactivity, GI upset, tremor, hyperreflexia, tachycardia hypertension, and seizure. The management of atomoxetine overdose is largely supportive, with a focus on sedation, and control of dyskinesias and seizures. Clonidine is a synthetic imidazole derivative with both central and peripheral alpha-adrenergic agonist actions. The primary clinical syndrome involves prominent neurological and cardiovascular effects, with the most commonly reported features of depressed sensorium, bradycardia, and hypotension. While clonidine is an anti-hypertensive medication, a paradoxical hypertension may occur early with overdose. The clinical syndrome after overdose of guanfacine may be mixed depending on central or peripheral alpha-adrenoreceptor effects. Initial clinical effects may be drowsiness, lethargy, dry mouth, and diaphoresis. Cardiovascular effects may depend on time post-ingestion and may present as hypotension or hypertension. The

  19. Perfectionism and eating disorder symptoms in female university students: the central role of perfectionistic self-presentation.

    Science.gov (United States)

    Stoeber, Joachim; Madigan, Daniel J; Damian, Lavinia E; Esposito, Rita Maria; Lombardo, Caterina

    2017-12-01

    Numerous studies have found perfectionism to show positive relations with eating disorder symptoms, but so far no study has examined whether perfectionistic self-presentation can explain these relations or whether the relations are the same for different eating disorder symptom groups. A sample of 393 female university students completed self-report measures of perfectionism (self-oriented perfectionism, socially prescribed perfectionism), perfectionistic self-presentation (perfectionistic self-promotion, nondisplay of imperfection, nondisclosure of imperfection), and three eating disorder symptom groups (dieting, bulimia, oral control). In addition, students reported their weight and height so that their body mass index (BMI) could be computed. Results of multiple regression analyses controlling for BMI indicated that socially prescribed perfectionism positively predicted all three symptom groups, whereas self-oriented perfectionism positively predicted dieting only. Moreover, perfectionistic self-presentation explained the positive relations that perfectionism showed with dieting and oral control, but not with bulimia. Further analyses indicated that all three aspects of perfectionistic self-presentation positively predicted dieting, whereas only nondisclosure of imperfection positively predicted bulimia and oral control. Overall, perfectionistic self-presentation explained 10.4-23.5 % of variance in eating disorder symptoms, whereas perfectionism explained 7.9-12.1 %. The findings suggest that perfectionistic self-presentation explains why perfectionistic women show higher levels of eating disorder symptoms, particularly dieting. Thus, perfectionistic self-presentation appears to play a central role in the relations of perfectionism and disordered eating and may warrant closer attention in theory, research, and treatment of eating and weight disorders.

  20. Development of lymphoma in Autoimmune Lymphoproliferative Syndrome (ALPS) and its relationship to Fas gene mutations

    NARCIS (Netherlands)

    Poppema, Sibrand; Maggio, Ewerton; van den Berg, Anke

    Autoimmune Lymphoproliferative Syndrome (ALPS) is generally the result of a mutation in genes associated with apoptosis, like Fas, Fas ligand, Casp 8 and Casp 10. As a result, the normal homeostasis of T- and B-lymphocytes is disturbed and a proliferation of polyclonal T lymphocytes occurs. This

  1. Addison's Disease and Possible Cannabis Withdrawal Syndrome Presenting as an Eating Disorder in a Thirty-Year-Old Female

    OpenAIRE

    Lazare, Kimberly

    2017-01-01

    A 30-year-old female with a history of anxiety, cannabis use, and Avoidant/Restrictive Food Intake Disorder presented for residential treatment of a Cannabis Use Disorder. Upon arrival, she had not eaten for two days and was found to be hypotensive with electrolyte disturbances. She was admitted to a nearby hospital, where the Internist diagnosed her with Addison’s disease. She was treated with corticosteroid therapy, with rapid normalization of her electrolytes, eating, and anxiety. This is ...

  2. Ehlers-danlos syndrome with platelet aggregation defect-presenting as mysterious bleeding disorder

    Directory of Open Access Journals (Sweden)

    Sawhney M

    2003-03-01

    Full Text Available A 7-year-old girl presented with recurrent episodes of petechiae, purpura and ecchymoses since six months of age and recurrent episodes of mild to severe epistaxis since two years of age requiring repeated blood transfusions. In April '99 while being investigated for a massive epistaxis, she was found to have platelet function defect with abnormal aggregation of platelets to ADP, epinephrine, collagen as well as to ristocetin. Further investigations ruled out the possibility of Glanzmann's disorder and von-Willebrand's disease as to its cause. In May 2001 she was referred to the dermatologist for evaluation of subcutaneous tumours, which had developed since the last six months. On clinical evaluation, she was found to be having mild hyperextensibility of the skin, joint hypermobility, atrophic scars over knee, spontaneous bruises over right forearm and left thigh and nontender firm to hard subcutaneous nodules over both wrists, both shoulders, right index finger and dorsum of right foot consistent with a clinical picture of a mild form of Ehlers-Danlos syndrome (EDS. Histopathology of the nodule from left wrist was consistent with molluscoid tumour of EDS and skin histopathology and ultrastructure studies showed thick irregular collagen fibrils. Only other sibling, a five-year-old male also had history of repeated mild to moderate epistaxis and on examination was found to have a milder variant of EDS. Born out of I degree consanguineous marriage of normal parents with mildly affected other sibling, she was diagnosed to be suffering from EDS with autosomal recessive inheritance, most probably EDS type X due to the associated platelet aggregation defect. Only one such family with EDS type X has been reported so far.

  3. Ehlers-danlos syndrome with platelet aggregation defect-presenting as mysterious bleeding disorder

    Directory of Open Access Journals (Sweden)

    Sawhney M

    2003-01-01

    Full Text Available A 7-year-old girl presented with recurrent episodes of petechiae, purpura and ecchymoses since six months of age and recurrent episodes of mild to severe epistaxis since two years of age requiring repeated blood transfusions. In April '99 while being investigated for a massive epistaxis, she was found to have platelet function defect with abnormal aggregation of platelets to ADP, epinephrine, collagen as well as to ristocetin. Further investigations ruled out the possibility of Glanzmann's disorder and von-Willebrand's disease as to its cause. In May 2001 she was referred to the dermatologist for evaluation of subcutaneous tumours, which had developed since the last six months. On clinical evaluation, she was found to be having mild hyperextensibility of the skin, joint hypermobility, atrophic scars over knee, spontaneous bruises over right forearm and left thigh and nontender firm to hard subcutaneous nodules over both wrists, both shoulders, right index finger and dorsum of right foot consistent with a clinical picture of a mild form of Ehlers-Danlos syndrome (EDS. Histopathology of the nodule from left wrist was consistent with molluscoid tumour of EDS and skin histopathology and ultrastructure studies showed thick irregular collagen fibrils. Only other sibling, a five-year-old male also had history of repeated mild to moderate epistaxis and on examination was found to have a milder variant of EDS. Born out of I degree consanguineous marriage of normal parents with mildly affected other sibling, she was diagnosed to be suffering from EDS with autosomal recessive inheritance, most probably EDS type X due to the associated platelet aggregation defect. Only one such family with EDS type X has been reported so far.

  4. Insight, Cognitive Insight and Sociodemographic Features in Obsessive Compulsive Disorder Presenting with Reactive and Autogeneus Features

    Directory of Open Access Journals (Sweden)

    Katre ÇAMLI

    2012-03-01

    Full Text Available Objective: The aim of the present study was to test hypothesis that obsessive compulsive disorder (OCD patients who have autogenous obsessions and reactive obsessions show different sociodemographic and clinical characteristics with different insight and cognitive insight levels. Method: Sixty-one patients diagnosed as OCD according to the Structured Clinical Interview for DSM-III-R (SCID-I are recruited. 31 patients had reactive obsessions and 30 had autogenous obsessions. The sociodemographic characteristics of patients and the symptomatology were evaluated using psychiatric scales including SCID-I, Yale Brown Obsessive- Compulsive Scale (YBOCS, Yale Brown Obsessive-Compulsive Scale-Symptom Checklist (YBOCS-SC and Beck Insight Scale. Results: The percentage of women in reactive obsessive group was higher and also this group had significantly less antipsychotic medication prescribed than the autogenous obsessive group. No significant difference was found for the other demographic variables. No significant difference was identified for the Beck Insight Self-Reflectiveness subscale but for the Self-Certainty subscale, reactive obsessives had higher scores. Although there was no significant difference for the composit index points, which is the subtraction of the two subscales, the p value was close to the limit. On the other hand YBOCS item- 11 scores which evaluates insight were higher in autogenous obsessives meaning low levels of insight. Conclusion: For the sociodemographic and clinical characteristics; there was no significant difference between the groups except gender distribution and antipsychotic medication. Our data about insight seems inconsistent but insight and cognitive insight can be different entities which show different levels of insight. Further investigation with different obsession types is needed.

  5. Prevalence and patterns of renal involvement in imaging of malignant lymphoproliferative diseases

    International Nuclear Information System (INIS)

    Bach, Andreas Gunter; Behrmann, Curd; Spielmann, Rolf Peter; Surov, Alexey; Holzhausen, Hans Jurgen; Katzer, Michaela; Arnold, Dirk

    2012-01-01

    Background: Renal involvement in patients with lymphoproliferative disease is an uncommon radiological finding. Purpose: To determine its prevalence and radiological appearances in a patient population. Material and Methods: All forms of lymphoproliferative disease (ICD: C81-C96) were considered. From January 2005 to January 2010, 668 consecutive patients with lymphoproliferative disease were identified with the help of the radiological database and patient records. Inclusion criteria were complete staging including appropriate CT scan and/or MRI. All stored images (initial staging and follow-up examinations) were reviewed. Results: Review of all stored images revealed renal infiltration in patients with non-Hodgkin lymphoma (11 of 364 = 3.0%; median age = 65 years, m:f = 6:5) but also multiple myeloma (2 of 162 = 1.2%; median age = 72 years; m:f = 1:1) and leukemia (5 of 101 4.9%; median age = 12 years; m:f = 2:3). There were no cases of renal infiltration in 41 patients with Hodgkin's disease. In total there were six patients with solitary lesions, five patients with diffuse renal enlargement, four patients with perirenal lesions, and two patients with direct invasion of the kidney. Conclusion: In leukemia the most common imaging pattern is diffuse enlargement. In the other subtypes of lymphoproliferative disease no specific correlation between typical CT patterns and subtype of lymphoproliferative disease can be found. The prevalence of renal involvement is in line with earlier studies. Contrary to earlier reports, multiple lesions were not found to be a common pattern

  6. Rare acquired hemostatic disorders as a cause of prolonged bleeding – presentation of two case reports

    Directory of Open Access Journals (Sweden)

    Polona Novak

    2011-10-01

    Full Text Available BACKGROUNDPatient’s anamnesis is of primary importance in determining hemostatic disorders. Based on anamnestic data, a clinician may decide for further laboratory tests. We must consider an acquired bleeding disorder in a patient with unusual, unexpected and prolonged bleeding episodes. In this article we will describe two rare acquired hemostatic disordes.TWO CASE REPORTSOur first patient had prolonged bleeding after a pacemaker implantation. We diagnosed him with acquired von Willebrand syndrome. Further on, the patient required a planned surgical procedure. In our second case we describe a patient with unusual and excessive skin bruising and prolonged bleeding after teeth extractions. He was diagnosed with acquired hemophilia.CONCLUSIONIn the assessment of a patient with a potential acquired bleeding disorder we must first rule out the most common causes, such as iatrogenic ones. But, because of high morbidity and mortality rates, we must also be aware of some rare acquired bleeding disorders. In case of uncertainty, we should consult with a hematologist.

  7. Psychometric properties of the Farsi translation of the kiddie schedule for affective disorders and schizophrenia-present and lifetime version

    Directory of Open Access Journals (Sweden)

    Mohammadi Mohammad

    2006-03-01

    Full Text Available Abstract Background Semi-structural clinical interviews are very important in the area of mental health research and services. There were no studies of the reliability and validity of the Farsi (Persian version of Kiddie Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version (K-SADS-PL in Iran. This study compares the results of face-to-face, semi-structural interview and clinical interview by a child and adolescent psychiatrist. Method Subjects were 109 children and adolescents recruited to the child and adolescent psychiatry outpatient clinic of Hafez Hospital. Order of interview (in-psychiatrist or the semi-structural interview was determined using random assignment within a counterbalanced framework. After, translation and back translation of K-SADS-PL, the Farsi version of K-SADS-PL was provided and used in the study. The interviewer was unaware of the child and adolescent psychiatrist diagnosis at the time of making the interview. Consensual validity, test-retest and inter-rater reliability, sensitivity, specifity, positive and negative predictive validity for the disorders were studied. Results Consensual validity of all of the psychiatric disorders was good to excellent. It was highest for panic disorder, conduct disorder, and simple phobia. Consensual validity of anorexia nervosa was 0.49. There was sufficient validity and test-retest and inter-rater reliability and good to excellent sensitivity and specifity and positive and negative predictive validity for nearly all of the disorders. Test-retest reliabilities of attention deficit hyperactivity disorder (ADHD, oppositional defiant disorder (ODD, and tic disorder were 0.81, 0.67, and 0.56; respectively. Inter-rater reliabilities of ADHD, and ODD were 0.69 and 0.69. Tic disorder, post traumatic disorder, panic disorder, and ADHD had the highest positive predictive validities. Conclusion The Farsi version of K-SADS-PL is a valid and reliable interview instrument

  8. Delays before Diagnosis and Initiation of Treatment in Patients Presenting to Mental Health Services with Bipolar Disorder.

    Science.gov (United States)

    Patel, Rashmi; Shetty, Hitesh; Jackson, Richard; Broadbent, Matthew; Stewart, Robert; Boydell, Jane; McGuire, Philip; Taylor, Matthew

    2015-01-01

    Bipolar disorder is a significant cause of morbidity and mortality. Although existing treatments are effective, there is often a substantial delay before diagnosis and treatment initiation. We sought to investigate factors associated with the delay before diagnosis of bipolar disorder and the onset of treatment in secondary mental healthcare. Retrospective cohort study using anonymised electronic mental health record data from the South London and Maudsley NHS Foundation Trust (SLaM) Biomedical Research Centre (BRC) Case Register on 1364 adults diagnosed with bipolar disorder between 2007 and 2012. The following predictor variables were analysed in a multivariable Cox regression analysis: age, gender, ethnicity, compulsory admission to hospital under the UK Mental Health Act, marital status and other diagnoses prior to bipolar disorder. The outcomes were time to recorded diagnosis from first presentation to specialist mental health services (the diagnostic delay), and time to the start of appropriate therapy (treatment delay). The median diagnostic delay was 62 days (interquartile range: 17-243) and median treatment delay was 31 days (4-122). Compulsory hospital admission was associated with a significant reduction in both diagnostic delay (hazard ratio 2.58, 95% CI 2.18-3.06) and treatment delay (4.40, 3.63-5.62). Prior diagnoses of other psychiatric disorders were associated with increased diagnostic delay, particularly alcohol (0.48, 0.33-0.41) and substance misuse disorders (0.44, 0.31-0.61). Prior diagnosis of schizophrenia and psychotic depression were associated with reduced treatment delay. Some individuals experience a significant delay in diagnosis and treatment of bipolar disorder after initiation of specialist mental healthcare, particularly those who have prior diagnoses of alcohol and substance misuse disorders. These findings highlight a need for further study on strategies to better identify underlying symptoms and offer appropriate treatment sooner

  9. Delays before Diagnosis and Initiation of Treatment in Patients Presenting to Mental Health Services with Bipolar Disorder.

    Directory of Open Access Journals (Sweden)

    Rashmi Patel

    Full Text Available Bipolar disorder is a significant cause of morbidity and mortality. Although existing treatments are effective, there is often a substantial delay before diagnosis and treatment initiation. We sought to investigate factors associated with the delay before diagnosis of bipolar disorder and the onset of treatment in secondary mental healthcare.Retrospective cohort study using anonymised electronic mental health record data from the South London and Maudsley NHS Foundation Trust (SLaM Biomedical Research Centre (BRC Case Register on 1364 adults diagnosed with bipolar disorder between 2007 and 2012. The following predictor variables were analysed in a multivariable Cox regression analysis: age, gender, ethnicity, compulsory admission to hospital under the UK Mental Health Act, marital status and other diagnoses prior to bipolar disorder. The outcomes were time to recorded diagnosis from first presentation to specialist mental health services (the diagnostic delay, and time to the start of appropriate therapy (treatment delay.The median diagnostic delay was 62 days (interquartile range: 17-243 and median treatment delay was 31 days (4-122. Compulsory hospital admission was associated with a significant reduction in both diagnostic delay (hazard ratio 2.58, 95% CI 2.18-3.06 and treatment delay (4.40, 3.63-5.62. Prior diagnoses of other psychiatric disorders were associated with increased diagnostic delay, particularly alcohol (0.48, 0.33-0.41 and substance misuse disorders (0.44, 0.31-0.61. Prior diagnosis of schizophrenia and psychotic depression were associated with reduced treatment delay.Some individuals experience a significant delay in diagnosis and treatment of bipolar disorder after initiation of specialist mental healthcare, particularly those who have prior diagnoses of alcohol and substance misuse disorders. These findings highlight a need for further study on strategies to better identify underlying symptoms and offer appropriate treatment

  10. [Reflections on mentalization-based treatment and its adaptation for men presenting a narcissistic personality disorder and a not otherwise specified personality disorder].

    Science.gov (United States)

    Cherrier, Jean-François

    2013-01-01

    Narcissistic personality disorder (NPD) and not otherwise specified personality disorder (borderline and narcissistic) are major mental health problems for men. These pathologies predispose patients to significant relational difficulties which are characterised by intense reactions to perceived threats to the self-esteem and an impaired empathic ability. Understanding these disorders as affect dysregulation stimulated by shame, the author presents how patients in this context are prone to lose their capacity to mentalize. This article describes a specific individual and group mentalization-based treatment and its implementation for treating narcissistic men. Different reflections on the treatment, on empathy, as well as on the adaptation of this treatment for NPD patients are presented and illustrated with clinical vignettes.

  11. Body dysmorphic disorder screening in maxillofacial outpatients presenting for orthognathic surgery

    NARCIS (Netherlands)

    Vulink, N. C. C.; Rosenberg, A.; Plooij, J. M.; Koole, R.; Bergé, S. J.; Denys, D.

    2008-01-01

    Body dysmorphic disorder (BDD) is a severe psychiatric disease with delusions about defects in appearance for which patients seek surgical help. This is the first European study to determine the half-year prevalence of BDD in a maxillofacial outpatient clinic. A total of 160 patients with

  12. Depressed Adolescents and Comorbid Psychiatric Disorders: Are There Differences in the Presentation of Depression?

    Science.gov (United States)

    Small, David Marc; Simons, Anne D.; Yovanoff, Paul; Silva, Susan G.; Lewis, Cara C.; Murakami, Jessica L.; March, John

    2008-01-01

    Patterns and correlates of comorbidity, as well as differences in manifest depressive profiles were investigated in a sample of depressed adolescents. A sub-sample of the youth were characterized as belonging to either a "Pure" depression group, an "Internalizing" group (depression and co-occurring internalizing disorders), or an "Externalizing"…

  13. Symptom Differences in Acute and Chronic Presentation of Childhood Post-Traumatic Stress Disorder.

    Science.gov (United States)

    Famularo, Richard; And Others

    1990-01-01

    Twenty-four child abuse victims, age 5-13, were diagnosed with posttraumatic stress disorder (PTSD). Children with the acute form of PTSD exhibited such symptoms as difficulty falling asleep, hypervigilance, nightmares, and generalized anxiety. Children exhibiting chronic PTSD exhibited increased detachment, restricted range of affect,…

  14. Early Diagnosis of Autism Spectrum Disorder: Stability and Change in Clinical Diagnosis and Symptom Presentation

    Science.gov (United States)

    Guthrie, Whitney; Swineford, Lauren B.; Nottke, Charly; Wetherby, Amy M.

    2013-01-01

    Background: Although a diagnosis of autism spectrum disorder (ASD) appears to be stable in children as young as age three, few studies have explored stability of a diagnosis in younger children. Predictive value of diagnostic tools for toddlers and patterns of symptom change are important considerations for clinicians making early diagnoses. Most…

  15. The Relationship between Clinical Presentation and Unusual Sensory Interests in Autism Spectrum Disorders: A Preliminary Investigation

    Science.gov (United States)

    Zachor, Ditza A.; Ben-Itzchak, Esther

    2014-01-01

    Unusual responses to sensory stimuli have been described in autism spectrum disorder (ASD).The study examined the frequencies of "unusual sensory interests" and "negative sensory responses" and their relation to functioning in a large ASD population (n = 679). Having "unusual sensory interests" was reported in 70.4%…

  16. Bilateral Wyburn-Mason Syndrome presenting as acute subarachnoid haemorrhage - a very rare congenital neurocutaneuos disorder

    DEFF Research Database (Denmark)

    Cortnum, Søren Ole Stigaard; Sørensen, Preben; Andresen, J

    2008-01-01

    . Wyburn-Mason syndrome is a very rare congenital neurocutaneuos disorder comprising of vascular malformations of the retina, ipsilateral cerebral AVMs and occasionally lesions in the oronasopharyngeal area. Subarachnoid haemorrhage associated with Wyburn-Mason syndrome has been described in only 5...

  17. Counseling a Student Presenting Borderline Personality Disorder in the Small College Context: Case Study and Implications

    Science.gov (United States)

    Draper, Matthew R.; Faulkner, Ginger E.

    2009-01-01

    This case study examines the dynamics and challenges associated with counseling a client experiencing borderline personality disorder in the small college institutional context. The work of counseling centers at small private institutions has been relatively unexplored in the extant college counseling literature. To help fill this gap, the current…

  18. Clinical presentation of acute gastroenteritis in children with functional gastrointestinal disorders

    NARCIS (Netherlands)

    Saps, Miguel; Mintjens, Stijn; Pusatcioglu, Cenk K.; Cohen, Daniel M.; Sternberg, Petra

    2017-01-01

    Visceral hypersensitivity (VH) and abnormal coping are common in children with functional abdominal pain disorders (FAPDs). Thus, it would be expected that children with VH would report more pain if their gut is acutely inflamed. Aims- Compare clinical symptoms and somatization of children with and

  19. Newborn screening of inherited metabolic disorders by tandem mass spectrometry: past, present and future

    Directory of Open Access Journals (Sweden)

    G. Scaturro

    2013-04-01

    Full Text Available Inborn errors of metabolism are inherited biochemical disorders caused by lack of a functional enzyme, transmembrane transporter, or similar protein, which then results in blockage of the corresponding metabolic pathway. Taken individually, inborn errors of metabolism are rare. However, as a group these diseases are relatively frequent and they may account for most of neonatal mortality and need of health resources. The detection of genetic metabolic disorders should occur in a pre-symptomatic phase. Recently, the introduction of the tandem mass spectrometric methods for metabolite analysis has changed our ability to detect intermediates of metabolism in smaller samples and provides the means to detect a large number of metabolic disorders in a single analytical run. Screening panels now include a large number of disorders that may not meet all the criteria that have been used as a reference for years. The rationale behind inclusion or exclusion of a respective disorder is difficult to understand in most cases and it may impose an ethical dilemma. The current organization is an important tool of secondary preventive medicine, essential for children’s healthcare, but the strong inhomogeneity of the regional models of screening applied today create in the Italian neonatal population macroscopic differences with regards to healthcare, which is in effect mainly diversified by the newborn’s place of birth, in possible violation of the universal criterion of the equality of all citizens. Carefully weighed arguments are urgently needed since patient organizations, opinion leaders and politicians are pressing to proceed with expansion of neonatal population screening.

  20. Attention-Deficit/Hyperactivity Disorder: A Historical Review (1775 to Present).

    Science.gov (United States)

    Leahy, Laura G

    2017-09-01

    As a new school year approaches, nurses will find themselves faced with students with symptoms of attention-deficit/hyperactivity disorder (ADHD). Navigating the diagnostic label changes and numerous psychopharmacological treatment options can prove time-consuming and confusing. The current article explores the early years of symptom identification, various diagnostic labels, and subsequent psychopharmacological treatments from psychostimulants to non-stimulant alternatives (including a prescription medical food). The current article also serves as a discussion guide for nurses and clinicians when providing education to patients and their loved ones, teachers, coaches, and others who may question the diagnosis and treatment of ADHD. This disorder can have a significant impact on one's ability to function within family, school, work, and social settings. A historical context is provided for the evolution of today's diagnostic criteria and the pharmacotherapy used in the treatment of ADHD. [Journal of Psychosocial Nursing and Mental Health Services, 55(9), 10-16.]. Copyright 2017, SLACK Incorporated.

  1. Characterization of Esophageal Motility Disorders in Children Presenting With Dysphagia Using High-Resolution Manometry.

    Science.gov (United States)

    Edeani, Francis; Malik, Adeel; Kaul, Ajay

    2017-03-01

    The Chicago classification was based on metrics derived from studies in asymptomatic adult subjects. Our objectives were to characterize esophageal motility disorders in children and to determine whether the spectrum of manometric findings is similar between the pediatric and adult populations. Studies have suggested that the metrics utilized in manometric diagnosis depend on age, size, and manometric assembly. This would imply that a different set of metrics should be used for the pediatric population. There are no standardized and generally accepted metrics for use in the pediatric population, though there have been attempts to establish metrics specific to this population. Overall, we found that the distribution of esophageal motility disorders in children was like that described in adults using the Chicago classification. This analysis will serve as a prequel to follow-up studies exploring the individual metrics for variability among patients, with the objective of establishing novel metrics for the pediatric population.

  2. Clinical Presentation of Acute Gastroenteritis in Children With Functional Abdominal Pain Disorders.

    Science.gov (United States)

    Saps, Miguel; Mintjens, Stijn; Pusatcioglu, Cenk K; Cohen, Daniel M; Sternberg, Petra

    2017-08-01

    Visceral hypersensitivity and abnormal coping are common in children with functional abdominal pain disorders (FAPDs). Thus, it would be expected that children with visceral hypersensitivity would report more pain if their gut is acutely inflamed. The aim of the study was to compare clinical symptoms and somatization of children with and without FAPDs at time of an episode of acute gastroenteritis. Seventy children with acute gastroenteritis and their parents completed the Rome III Diagnostic Questionnaire for Pediatric Functional GI Disorders and the Children's Somatization Inventory. Twenty-one percent of children were diagnosed with an FAPD. Children with FAPDs showed significantly more nongastrointestinal somatic symptoms than children without FAPDs. There were no significant differences in abdominal pain, nausea, vomiting, or school absenteeism between both groups at time of consultation.

  3. The nature of dynamic disorder in lead halide perovskite crystals (Conference Presentation)

    Science.gov (United States)

    Yaffe, Omer; Guo, Yinsheng; Hull, Trevor; Stoumpos, Costas; Tan, Liang Z.; Egger, David A.; Zheng, Fan; Szpak, Guilherme; Semonin, Octavi E.; Beecher, Alexander N.; Heinz, Tony F.; Kronik, Leeor; Rappe, Andrew M.; Kanatzidis, Mercouri G.; Owen, Jonathan S.; Pimenta, Marcos A.; Brus, Louis E.

    2016-09-01

    We combine low frequency Raman scattering measurements with first-principles molecular dynamics (MD) to study the nature of dynamic disorder in hybrid lead-halide perovskite crystals. We conduct a comparative study between a hybrid (CH3NH3PbBr3) and an all-inorganic lead-halide perovskite (CsPbBr3). Both are of the general ABX3 perovskite formula, and have a similar band gap and structural phase sequence, orthorhombic at low temperature, changing first to tetragonal and then to cubic symmetry as temperature increases. In the high temperature phases, we find that both compounds show a pronounced Raman quasi-elastic central peak, indicating that both are dynamically disordered.

  4. A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation.

    Science.gov (United States)

    Talreja, Shyam M; Banerjee, Indraneel; Yadav, Sher Singh; Tomar, Vinay

    2015-01-01

    Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both ovarian and testicular tissues in the same individual. It's incidence ranges from 3% to 10% of all disorder of DSD's, and the most common presentation is 46, XX followed by 46, XX/46, XY mosaicism and 46, XY. Klinefelter syndrome (KS) mosaicism 46, XX/47, XXY is extremely rare, and its association with the ovotesticular disorder is even rarer. We report an unusual case of 16-year-old with male habitus who presented with complains of cyclic hematuria. On examination, he had bilateral gynecomastia, unilateral left cryptorchidism, absent facial hair, sparse axillary hair growth, and pubic hair distribution of feminine type. The right testis was of normal size located normally in hemiscrotum and was confirmed by radio imaging. Ultrasonography and magnetic resonance imaging revealed a cystic area behind posterior half of urinary bladder. Chromosomal analysis revealed 46, XX/47, XXY mosaicism of female karyotype and KS. Histopathological report of this left side excised specimen confirmed the structures to be ovary, uterus, and fallopian tube, thus confirming our diagnosis of the lateral ovotesticular disorder. Meticulous workup combined interdisciplinary approach will lead to early diagnosis and resolve timely sex reassignment issues and also prevent consequences arising due to gonadal insufficiency.

  5. Telemonitoring with respect to mood disorders and information and communication technologies: overview and presentation of the PSYCHE project.

    Science.gov (United States)

    Javelot, Hervé; Spadazzi, Anne; Weiner, Luisa; Garcia, Sonia; Gentili, Claudio; Kosel, Markus; Bertschy, Gilles

    2014-01-01

    This paper reviews what we know about prediction in relation to mood disorders from the perspective of clinical, biological, and physiological markers. It then also presents how information and communication technologies have developed in the field of mood disorders, from the first steps, for example, the transition from paper and pencil to more sophisticated methods, to the development of ecological momentary assessment methods and, more recently, wearable systems. These recent developments have paved the way for the use of integrative approaches capable of assessing multiple variables. The PSYCHE project stands for Personalised monitoring SYstems for Care in mental HEalth.

  6. Telemonitoring with respect to Mood Disorders and Information and Communication Technologies: Overview and Presentation of the PSYCHE Project

    Directory of Open Access Journals (Sweden)

    Hervé Javelot

    2014-01-01

    Full Text Available This paper reviews what we know about prediction in relation to mood disorders from the perspective of clinical, biological, and physiological markers. It then also presents how information and communication technologies have developed in the field of mood disorders, from the first steps, for example, the transition from paper and pencil to more sophisticated methods, to the development of ecological momentary assessment methods and, more recently, wearable systems. These recent developments have paved the way for the use of integrative approaches capable of assessing multiple variables. The PSYCHE project stands for Personalised monitoring SYstems for Care in mental HEalth.

  7. Present situation and prospect of gamma knife radiosurgery for functional brain disorders

    International Nuclear Information System (INIS)

    Zhang Yongquan; Zhao Xianjun; Liu Wenli

    2002-01-01

    With the evolution of imaging technology in the past two decades, currently anatomic targets including the trigeminal nerve (for trigeminal neuralgia), the thalamus (for tremor or pain), the cingulate gyrus, anterior internal capsule or amygdala (for pain or psychiatric illness), the globus pallidum (for symptoms of Parkinson's disease), and the hippocampus (for epilepsy) can be precisely located with computerized tomography, magnetic resonance image, single photon emission computerized tomography and positron emission tomography; stereotactic radiosurgery gradually tends to perfection. Gamma knife therapy for nervous functional disorders has become the focus of interest in clinical study

  8. Anti-AMPA-Receptor Encephalitis Presenting as a Rapid-Cycling Bipolar Disorder in a Young Woman with Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Giuseppe Quaranta

    2015-01-01

    Full Text Available Background. Autoimmune encephalitis is a disorder characterised by the subacute onset of seizures, short-term memory loss, and psychiatric and behavioural symptoms. Initially, it was recognised as a paraneoplastic disorder, but recently a subgroup of patients without systemic cancer was identified. Case Description. We describe a 20-year-old woman with Turner syndrome presenting with a treatment-resistant rapid cycling bipolar disorder with cognitive impairment. She was diagnosed with anti-AMPA-receptor encephalitis. She showed marked improvement after starting memantine and valproic acid. Conclusion. This case description emphasises the importance of timely recognition of autoimmune limbic encephalitis in patients with psychiatric manifestations and a possible predisposition to autoimmune conditions, in order to rule out malignancy and to quickly initiate treatment.

  9. Epistaxis as a Common Presenting Symptom of Glanzmann’s Thrombasthenia, a Rare Qualitative Platelet Disorder: Illustrative Case Examples

    Directory of Open Access Journals (Sweden)

    Michael Recht

    2017-01-01

    Full Text Available Children often present to emergency departments (EDs with uncontrollable nose bleeding. Although usually due to benign etiologies, epistaxis may be the presenting symptom of an inherited bleeding disorder. Whereas most bleeding disorders are detected through standard hematologic assessments, diagnosing rare platelet function disorders may be challenging. Here we present two case reports and review diagnostic and management challenges of platelet function disorders with a focus on Glanzmann’s thrombasthenia (GT. Patient 1 was a 4-year-old boy with uncontrolled epistaxis. His medical history included frequent and easy bruising. Previous laboratory evaluation revealed only mild microcytic anemia. An otolaryngologist stopped the bleeding, and referral to a pediatric hematologist led to the definitive diagnosis of GT. Patient 2 was a 2.5-year-old girl with severe epistaxis and a history of milder recurrent epistaxis. She had a bruise on her abdomen with a palpable hematoma and many scattered petechiae. Previous assessments revealed no demonstrable hemostatic anomalies. Platelet aggregation studies were performed following referral to a pediatric hematologist, leading to the diagnosis of GT. As evidenced by these cases, the ED physician may often be the first to evaluate severe or recurrent epistaxis and should recognize indications for coagulation testing and hematology consultation/referral for advanced hematologic assessments.

  10. Cross-cultural differences in somatic presentation in patients with generalized anxiety disorder.

    Science.gov (United States)

    Hoge, Elizabeth A; Tamrakar, Sharad M; Christian, Kelly M; Mahara, Namrata; Nepal, Mahendra K; Pollack, Mark H; Simon, Naomi M

    2006-12-01

    Little is known about cultural differences in the expression of distress in anxiety disorders. Previous cross-cultural studies of depression have found a greater somatic focus in Asian populations. We examined anxiety symptoms in patients with generalized anxiety disorder (GAD) in urban mental health settings in Nepal (N = 30) and in the United States (N = 23). Participants completed the Beck Anxiety Inventory (BAI). The overall BAI score and somatic and psychological subscales were compared. While there was no difference in total BAI scores, the Nepali group scored higher on the somatic subscale (i.e. "dizziness" and "indigestion," t[df] = -2.63[50], p < 0.05), while the American group scored higher on the psychological subscale (i.e. "scared" and "nervous," t[df] = 3.27[50], p < 0.01). Nepali patients with GAD had higher levels of somatic symptoms and lower levels of psychological symptoms than American patients with GAD. Possible explanations include differences in cultural traditions of describing distress and the mind-body dichotomy.

  11. Stiff Person Syndrome: A Rare Neurological Disorder, Heterogeneous in Clinical Presentation and Not Easy to Treat

    Directory of Open Access Journals (Sweden)

    Susanne Buechner

    2015-01-01

    Full Text Available Background. Stiff person syndrome (SPS is a rare neurological disorder characterized by progressive rigidity of axial and limb muscles associated with painful spasms. SPS can be classified into classic SPS, paraneoplastic SPS, and SPS variants. Its underlying pathogenesis is probably autoimmune, as in most cases antibodies against glutamic acid decarboxylase (GAD are observed. Similarly, paraneoplastic SPS is usually linked to anti-amphiphysin antibodies. Treatment is based on drugs enhancing gamma-aminobutyric acid (GABA transmission and immunomodulatory agents. Case Series. Patient 1 is a 45-year-old male affected by the classic SPS, Patient 2 is a 73-year-old male affected by paraneoplastic SPS, and Patient 3 is a 68-year-old male affected by the stiff limb syndrome, a SPS variant where symptoms are confined to the limbs. Symptoms, diagnostic findings, and clinical course were extremely variable in the three patients, and treatment was often unsatisfactory and not well tolerated, thus reducing patient compliance. Clinical manifestations also included some unusual features such as recurrent vomiting and progressive dysarthria. Conclusions. SPS is a rare disorder that causes significant disability. Because of its extensive clinical variability, a multitask and personalized treatment is indicated. A clearer understanding of uncommon clinical features and better-tolerated therapeutic strategies are still needed.

  12. Suppressed peripheral and placental blood lymphoproliferative responses in first pregnancies: relevance to malaria

    DEFF Research Database (Denmark)

    Rasheed, F N; Bulmer, J N; Dunn, D T

    1993-01-01

    protein derivative [PPD]) were examined in the peripheral and placental blood of 102 Gambian women at the time of delivery. The lymphoproliferative responses of placental cells were poor to all antigens compared with those of peripheral blood (Candida P PPD P ....003, and 190N P = 0.10). Reduced proliferative capacity of placental mononuclear cells may contribute to heavy parasite colonization of this organ. Proliferation to malarial and PPD but not Candida antigens was selectively suppressed in peripheral and placental blood of primiparae relative to multiparae (F32 P...... = 0.07, 190L P = 0.09, 190N P = 0.007, PPD P = 0.09). Autologous plasma contained factors that suppressed lymphoproliferative responses to the same series of antigens to which the primiparae responded poorly (F32 P PPD P = 0.03). Malarial antibody levels were...

  13. Risk of Hematopoietic and Lymphoproliferative Malignancies among U. S. Radiologic Technologists

    International Nuclear Information System (INIS)

    Linet, M. S.; Fredman, D. M.; Mohan, A.; Morin Doody, M.; Ron, E.; Mabuchi, K.; Alexander, B. B.; Sigurdson, A.; Matanoski, G.; Hauptmann, M.

    2004-01-01

    To evaluate risks of hematopoietic and lymphoproliferative malignancies among medical workers exposed to protracted low-to-moderate-dose radiation exposures, a follow-up investigation was conducted in a nation wide cohort of U. S. radiologic technologists. eligible for this study were 71.894 technologists (78% female) certified for at least 2 years during 1926-82, who had responded to a baseline mail questionnaire during 1983-89, were cancer-free except for non-melanoma skin cancer at completion of the questionnaire, and completed a second questionnaire during 1994-98 or died through August 1998. There were 241 technologists with hematopoietic or lymphoproliferative malignancies, including 41 with leukemia subtypes associated with radiation exposures (specifically acute myeloid, acute lymphoid and chronic myeloid leukemias, hereafter designated radiogenic leukemias), 23 with chronic lymphocytic leukemia, 28 with multiple myeloma, 118 with non-Hodgkin lymphoma, and 31 with Hodgkin lymphoma. Of the 241 hematopoietic or lymphoproliferative malignancies identified among radiologic technologists, 85 percent were confirmed by medical records or death certificates, including 98 percent of radiogenic leukemia. Risks of the hematopoietic or lymphoproliferative malignancies were evaluated in relation to questionnaire-derived information on employment as a radiologic technologist, including procedures, work practices, and protective measures. cox proportional hazards regression analysis was used to compute relative risks and 95% confidence intervals, using age at diagnosis as the response, stratifying at baseline for birth cohort in 5-year intervals, and adjusting for potential confounding. Risks were not increased for any of the hematopoietic or lymphoproliferative neoplasms according to year first worked or total duration of years worked as radiologic technologist. For the combined radiogenic leukemias, risks rose significantly with an increasing number of years worked

  14. Disturbed sleep in attention-deficit hyperactivity disorder (ADHD) is not a question of psychiatric comorbidity or ADHD presentation

    DEFF Research Database (Denmark)

    Virring, Anne; Lambek, Rikke; Thomsen, Per H.

    2016-01-01

    with ADHD (n = 76) had significantly more sleep disturbances than controls (n = 25), including a larger percentage of rapid eye movement (REM) sleep and more sleep cycles, as well as lower mean sleep efficiency, mean non-REM (NREM) sleep stage 1 and mean NREM sleep stage 3. No significant between......Attention-deficit hyperactivity disorder (ADHD) is a heterogeneous psychiatric disorder with three different presentations and high levels of psychiatric comorbidity. Serious sleep complaints are also common, but the role of the presentations and comorbidity in sleep is under-investigated in ADHD....... Consequently, the goal of the study was to investigate sleep problems in medicine-naive school-aged children (mean age = 9.6 years) with ADHD compared to controls using objective methods and to examine the role of comorbidity and presentations. Ambulatory polysomnography results suggested that children...

  15. Cephalometric deviations present in children and adolescents with temporomandibular joint disorders

    Directory of Open Access Journals (Sweden)

    Leticia Vilaça Willeman Bastos

    2012-02-01

    Full Text Available INTRODUCTION: Temporomandibular disorders (TMD have proved to be a risk factor for developing hyperdivergent facial growth patterns. OBJECTIVE: The aims of this study were: (1 Assess differences between the cephalometric measurements in children with articular TMD and a control group, before and after mandibular growth peak according to cervical vertebral maturation; and (2 Identify a predictive model capable of differentiating patients with TMD and control group patients based on early cephalometric characteristics. METHOD: The study included children and adolescents with maximum age of 17 years, divided into experimental group (n=30 diagnosed with articular TMD-according to the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD for children and adolescents-subdivided according to growth stage, called pre-peak (n=17 and post-peak (n=13 and control group (n = 30, matched by gender, skeletal maturity stage of the cervical vertebrae and classification of malocclusion. Lateral cephalometric and craniofacial structures were traced and their relations divided into: Cranial base, maxilla, mandible, intermaxillary relations, vertical skeletal relations and dental relations. Differences between the means for each variable were evaluated by applying the statistical Student t test for independent samples. RESULTS: The means of the variables analyzed in the pre-peak showed no statistically significant differences. However, analysis of post-peak showed that the experimental group displayed decreased SNA and SNB and increased SN.Gn and 1.NB (p<0.05. CONCLUSION: It was possible to identify a predictive model able to differentiate patients with TMD and asymptomatic controls from early cephalometric characteristics.

  16. Predicting opioid use disorder in patients with chronic pain who present to the emergency department.

    Science.gov (United States)

    Gardner, Robert Andrew; Brewer, Kori L; Langston, Dennis B

    2018-04-06

    Emergency department (ED) patients with chronic pain challenge providers to make quick and accurate assessments without an in-depth pain management consultation. Emergency physicians need reliable means to determine which patients may receive opioid therapy without exacerbating opioid use disorder (OUD). Eighty-nine ED patients with a chief complaint of chronic pain were enrolled. Researchers administered questionnaires and reviewed medical and state prescription monitoring database information. Participants were classified as either OUD or non-OUD. Statistical analysis included a bivariate analysis comparing differences between groups and multivariate logistic regression evaluating ORs. The 45 participants categorised as OUD had a higher proportion of documented or reported psychiatric diagnoses (p=0.049), preference of opioid treatment (p = 0.005), current oxycodone prescription (p = 0.043), borrowed pain medicine (p=0.004) and non-authorised dose increase (pOUD group to have an increased number of opioid prescriptions (p=0.005) and pills (p=0.010). Participants who borrowed pain medicine and engaged in non-authorised dose increase were 5.2 (p=0.025, 95% CI 1.24 to 21.9) and 6.1 times (p=0.001, 95% CI 1.55 to 24.1) more likely to have OUD, respectively. Major limitations of our study include a small sample size, self-reported measures and convenience sample which may introduce selection bias. Patients with chronic pain with OUD have distinguishable characteristics. Emergency physicians should consider such evidence-based variables prior to opioid therapy to ameliorate the opioid crisis and limit implicit bias. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  17. Preliminary Evaluation of Outcomes of Transactional Analysis Psychotherapy for Armed Forces Veterans presenting with Post-Traumatic Stress Disorder

    Directory of Open Access Journals (Sweden)

    David Harford

    2013-07-01

    Full Text Available This brief outline presents some initial findings from a pilot project conducted within a charity settingin the UK, examining clinical outcomes for a cohort of armed forces veterans presenting with post-traumatic stress disorder (PTSD. Outcomes were measuredusing CORE-OM (Evans et al 2000, PHQ-9 (Kroenke et al 2001 and GAD-7 (Spitzer et al 2006. Preliminary findings show that positive Reliable Change on global distress and anxiety had taken place within 16 sessions. These results suggest that transactional analysis psychotherapy has promise for treatment of PTSD with this client group and that further research is warranted.

  18. Atypical Presentation of Zoster Mimicking Headache and Temporomandibular Disorder: A Case Report.

    Science.gov (United States)

    Zarei, Mohammad Reza; Chamani, Goli

    2016-01-01

    Herpes zoster in the prodromal stage may be mistaken for other diseases characterized by pain in the area of prodrome, such as dental pain. We report on a case of trigeminal herpes zoster, which presented as sudden onset headache and acute temporomandibular pain in the prodromal phase.

  19. Embryonic Testicular Regression Syndrome Presenting as Primary Amenorrhea: A Case Report and Review of Disorders of Sexual Development.

    Science.gov (United States)

    Hunter, J D; Pierce, S R; Calikoglu, A S; Howell, J O

    2016-08-01

    Sex development depends on the synchronous interaction of complicated genetic and hormonal events. Sex differentiation begins with sex determination, which is the assignment of the embryonic bipotential gonads as either testes or ovaries on the basis of transcriptional regulation. Hormonal regulation then directs the development of the male or female phenotype. Disruptions of this intricate cascade of events result in disorders of sexual development. A 16-year-old female adolescent presented with primary amenorrhea. Evaluation revealed female external genitalia, XY karyotype, absent gonadal tissue, and rudimentary Müllerian structures. On the basis of her constellation of findings, the most logical diagnosis was the rare embryonic testicular regression syndrome. A careful understanding of embryonic sexual development is critical to the evaluation of patients with disorders of sexual development. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  20. Neuromyelitis optica spectrum disorder presenting with repeated hypersomnia due to involvement of the hypothalamus and hypothalamus-amygdala linkage.

    Science.gov (United States)

    Kume, Kodai; Deguchi, Kazushi; Ikeda, Kazuyo; Takata, Tadayuki; Kokudo, Yohei; Kamada, Masaki; Touge, Tetsuo; Takahashi, Toshiyuki; Kanbayashi, Takashi; Masaki, Tsutomu

    2015-06-01

    We report the case of a 46-year-old Japanese woman with neuromyelitis optica spectrum disorder presenting with repeated hypersomnia accompanied by decreased CSF orexin level. First episode associated with hypothalamic-pituitary dysfunction showed bilateral hypothalamic lesions that can cause secondary damage to the orexin neurons. The second episode associated with impaired memory showed a left temporal lesion involving the amygdala. The mechanism remains unknown, but the reduced blood flow in the hypothalamus ipsilateral to the amygdala lesion suggested trans-synaptic hypothalamic dysfunction secondary to the impaired amygdala. A temporal lesion involving the amygdala and hypothalamus could be responsible for hypersomnia due to neuromyelitis optica spectrum disorder. © The Author(s), 2015.

  1. Relevance of the Thought-Shape Fusion Trait Questionnaire for healthy women and women presenting symptoms of eating disorders and mixed mental disorders.

    Science.gov (United States)

    Wyssen, Andrea; Debbeler, Luka J; Meyer, Andrea H; Coelho, Jennifer S; Humbel, Nadine; Schuck, Kathrin; Lennertz, Julia; Messerli-Bürgy, Nadine; Trier, Stephan N; Isenschmid, Bettina; Milos, Gabriella; Flury, Hanspeter; Schneider, Silvia; Munsch, Simone

    2018-03-23

    Thought-shape fusion (TSF) describes the experience of marked concerns about body weight/shape, feelings of fatness, the perception of weight gain, and the impression of moral wrongdoing after thinking about eating fattening/forbidden foods. This study sets out to evaluate the short version of the TSF trait questionnaire (TSF). The sample consists of 315 healthy control women, 244 women with clinical and subthreshold eating disorders, and 113 women with mixed mental disorders (mixed). The factor structure of the TSF questionnaire was examined using exploratory and subsequent confirmatory factor analyses. The questionnaire distinguishes between a Concept scale and a Clinical Impact scale. However, a lack of measurement invariances refers to significant differences between groups in terms of factor loadings, thresholds, and residuals, which questions cross-group validity. Results indicate that the concept is understood differently in the 3 groups and refers to the suitability of the questionnaire primarily for individuals presenting with symptoms of eating disorders. Copyright © 2018 John Wiley & Sons, Ltd.

  2. The clinical presentation of attention deficit‐hyperactivity disorder (ADHD) in children with 22q11.2 deletion syndrome

    Science.gov (United States)

    Martin, Joanna; Thapar, Anita; Owen, Michael J.

    2015-01-01

    Background: Although attention deficit‐hyperactivity disorder (ADHD) is the most prevalent psychiatric disorder in children with 22q11.2DS, it remains unclear whether its clinical presentation is similar to that in children with idiopathic ADHD. The aim of this study is to compare the ADHD phenotype in children with and without 22q11.2DS by examining ADHD symptom scores, patterns of psychiatric comorbidity, IQ and gender distribution. Methods: Forty‐four children with 22q11.2DS and ADHD (mean age = 9.6), 600 clinic children (mean age = 10.8) and 77 children with ADHD from a population cohort (mean age = 10.8) participated in the study. Psychopathology was assessed using parent‐report research diagnostic instruments. Results: There was a higher proportion of females in the 22q11.2DS ADHD sample in relation to the clinical sample (χ2 = 18.2, P ADHD inattentive subtype (χ2 = 114.76, P ADHD group parents reported fewer oppositional defiant disorder/conduct disorder symptoms (z = 6.33, P ADHD sample had received ADHD treatment. The results were similar when the 22q11.2 ADHD group was compared to the population cohort ADHD group. Conclusions: The clinical presentation of ADHD and patterns of co‐morbidity in 22q11.2DS is different from that in idiopathic ADHD. This could lead to clinical under‐recognition of ADHD in this group. Examining psychopathology in 22q11.2DS can provide insights into the genetic origins of psychiatric problems with implications beyond the 22q11.2DS population. © 2015 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc. PMID:26400629

  3. [The formation of the self-maintenance skills in the pre-school children presenting with locomotor and coordination disorders].

    Science.gov (United States)

    Poletaeva-Dubrovina, N A; Burkova, A M

    2016-01-01

    The Ministry of Health of the Russian Federation acknowledges the sharp rise in the prevalence of congenital malformation in this country during the past 30 years. In 2010-2011, this pathology was estimated to occur in 3% of the children. It includes a variety of locomotor and coordination disorders of which the most widespread are infantile cerebral paralysis, ataxia, consequences of perinatal lesions of the central nervous system, etc. This article contains a detailed description of these locomotor and coordination disorders. The objective of the present work was to elaborate and evaluate the program for the formation of the self-maintenance skills in the pre-school children presenting with locomotor and coordination disorders under conditions of family guidance and education. The study was carried out from September 2013 till May 2014 based at MUP DOD "Semeiny klub Nadezhda" ("The Hope Family Club", Municipal unitary facility for children's additional education) and supported by B.N. El'tsin Ural Federal University. It included 10 children suffering from locomotor and coordination disorders of different severity and members of their families. The following methods were used: the self-service skills scorecard , monitoring formation of the motor skills, and Wilcoxon's T-test. The use of the program based on the cooperation with the children's families allowed to achieve positive dynamics in the patients' conditions. Moreover, 30% of them acquired the full scope of the self-maintenance skills. The most pronounced changes in the motor abilities were apparent in the movements of the upper and lower extremitis, walking, and motion in space. The proposed program for the formation of the self-maintenance skills in the pre-school children presenting with locomotor and coordination disorders proved to be highly efficacious. The study has demonstrated the importance of the parents' involvement in the process of formation of the self-maintenance skills and motor abilities

  4. Falling out of time: enhanced memory for scenes presented at behaviorally irrelevant points in time in posttraumatic stress disorder (PTSD).

    Science.gov (United States)

    Levy-Gigi, Einat; Kéri, Szabolcs

    2012-01-01

    Spontaneous encoding of the visual environment depends on the behavioral relevance of the task performed simultaneously. If participants identify target letters or auditory tones while viewing a series of briefly presented natural and urban scenes, they demonstrate effective scene recognition only when a target, but not a behaviorally irrelevant distractor, appears together with the scene. Here, we show that individuals with posttraumatic stress disorder (PTSD), who witnessed the red sludge disaster in Hungary, show the opposite pattern of performance: enhanced recognition of scenes presented together with distractors and deficient recognition of scenes presented with targets. The recognition of trauma-related and neutral scenes was not different in individuals with PTSD. We found a positive correlation between memory for scenes presented with auditory distractors and re-experiencing symptoms (memory intrusions and flashbacks). These results suggest that abnormal encoding of visual scenes at behaviorally irrelevant events might be associated with intrusive experiences by disrupting the flow of time.

  5. Falling out of time: enhanced memory for scenes presented at behaviorally irrelevant points in time in posttraumatic stress disorder (PTSD.

    Directory of Open Access Journals (Sweden)

    Einat Levy-Gigi

    Full Text Available Spontaneous encoding of the visual environment depends on the behavioral relevance of the task performed simultaneously. If participants identify target letters or auditory tones while viewing a series of briefly presented natural and urban scenes, they demonstrate effective scene recognition only when a target, but not a behaviorally irrelevant distractor, appears together with the scene. Here, we show that individuals with posttraumatic stress disorder (PTSD, who witnessed the red sludge disaster in Hungary, show the opposite pattern of performance: enhanced recognition of scenes presented together with distractors and deficient recognition of scenes presented with targets. The recognition of trauma-related and neutral scenes was not different in individuals with PTSD. We found a positive correlation between memory for scenes presented with auditory distractors and re-experiencing symptoms (memory intrusions and flashbacks. These results suggest that abnormal encoding of visual scenes at behaviorally irrelevant events might be associated with intrusive experiences by disrupting the flow of time.

  6. Sympathetically maintained pain presenting first as temporomandibular disorder, then as parotid dysfunction.

    Science.gov (United States)

    Giri, Subha; Nixdorf, Donald

    2007-03-01

    Complex regional pain syndrome (CRPS) is a chronic condition characterized by intense pain, swelling, redness, hypersensitivity and additional sudomotor effects. In all 13 cases of CRPS in the head and neck region reported in the literature, nerve injury was identified as the etiology for pain initiation. In this article, we present the case of a 30-year-old female patient with sympathetically maintained pain without apparent nerve injury. Her main symptoms--left-side preauricular pain and inability to open her mouth wide--mimicked temporomandibular joint arthralgia and myofascial pain of the masticatory muscles. Later, symptoms of intermittent preauricular pain and swelling developed, along with hyposalivation, which mimicked parotitis. After an extensive diagnostic process, no definitive underlying pathology could be identified and a diagnosis of neuropathic pain with a prominent sympathetic component was made. Two years after the onset of symptoms and initiation of care, treatment with repeated stellate ganglion blocks and enteral clonidine pharmacotherapy provided adequate pain relief.

  7. The clinical presentation of attention deficit-hyperactivity disorder (ADHD) in children with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Niarchou, Maria; Martin, Joanna; Thapar, Anita; Owen, Michael J; van den Bree, Marianne B M

    2015-12-01

    Although attention deficit-hyperactivity disorder (ADHD) is the most prevalent psychiatric disorder in children with 22q11.2DS, it remains unclear whether its clinical presentation is similar to that in children with idiopathic ADHD. The aim of this study is to compare the ADHD phenotype in children with and without 22q11.2DS by examining ADHD symptom scores, patterns of psychiatric comorbidity, IQ and gender distribution. Forty-four children with 22q11.2DS and ADHD (mean age = 9.6), 600 clinic children (mean age = 10.8) and 77 children with ADHD from a population cohort (mean age = 10.8) participated in the study. Psychopathology was assessed using parent-report research diagnostic instruments. There was a higher proportion of females in the 22q11.2DS ADHD sample in relation to the clinical sample (χ(2)  = 18.2, P ADHD inattentive subtype (χ(2)  = 114.76, P hyperactive-impulsive symptoms compared to the clinical group (z = 8.43, P ADHD group parents reported fewer oppositional defiant disorder/conduct disorder symptoms (z = 6.33, P disorder (χ(2)  = 4.56, P = 0.03) in relation to the clinical group. Two percent of the 22q11.2 DS ADHD sample had received ADHD treatment. The results were similar when the 22q11.2 ADHD group was compared to the population cohort ADHD group. The clinical presentation of ADHD and patterns of co-morbidity in 22q11.2DS is different from that in idiopathic ADHD. This could lead to clinical under-recognition of ADHD in this group. Examining psychopathology in 22q11.2DS can provide insights into the genetic origins of psychiatric problems with implications beyond the 22q11.2DS population. © 2015 Wiley Periodicals, Inc.

  8. Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

    Science.gov (United States)

    Jacobsen, Jessie C; Wilson, Callum; Cunningham, Vicki; Glamuzina, Emma; Prosser, Debra O; Love, Donald R; Burgess, Trent; Taylor, Juliet; Swan, Brendan; Hill, Rosamund; Robertson, Stephen P; Snell, Russell G; Lehnert, Klaus

    2016-03-01

    Two male siblings from a consanguineous union presented in early infancy with marked truncal hypotonia, a general paucity of movement, extrapyramidal signs and cognitive delay. By mid-childhood they had made little developmental progress and remained severely hypotonic and bradykinetic. They developed epilepsy and had problems with autonomic dysfunction and oculogyric crises. They had a number of orthopaedic problems secondary to their hypotonia. Cerebrospinal fluid (CSF) neurotransmitters were initially normal, apart from mildly elevated 5-hydroxyindolacetic acid, and the children did not respond favourably to a trial of levodopa-carbidopa. The youngest died from respiratory complications at 10 years of age. Repeat CSF neurotransmitters in the older sibling at eight years of age showed slightly low homovanillic acid and 5-hydroxyindoleacetic acid levels. Whole-exome sequencing revealed a novel mutation homozygous in both children in the monoamine transporter gene SLC18A2 (p.Pro237His), resulting in brain dopamine-serotonin vesicular transport disease. This is the second family to be described with a mutation in this gene. Treatment with the dopamine agonist pramipexole in the surviving child resulted in mild improvements in alertness, communication, and eye movements. This case supports the identification of the causal mutation in the original case, expands the clinical phenotype of brain dopamine-serotonin vesicular transport disease and confirms that pramipexole treatment may lead to symptomatic improvement in affected individuals.

  9. An IgG4-Related Salivary Gland Disorder: A Case Series Presenting with a Different Clinical Setting

    Directory of Open Access Journals (Sweden)

    Masayuki Ishida

    2011-01-01

    Full Text Available Küttner tumor is a chronic inflammatory disease that presents with a firm swelling of the submandibular gland and often mimics a neoplasm. Recently evidence suggests that Küttner tumor may be a type of disorder characterized by IgG4-related inflammations. Herein, we report 3 cases of submandibular gland swellings with severe fibrosis, inflammation with marked lymphoplasmacytic infiltration; this pathology mimics clinical manifestation of a malignant tumor in 18-fluorodeoxyglucose positron emission tomography (FDG-PET findings.

  10. Prevention of Human Lymphoproliferative Tumor Formation in Ovarian Cancer Patient-Derived Xenografts

    Directory of Open Access Journals (Sweden)

    Kristina A. Butler

    2017-08-01

    Full Text Available Interest in preclinical drug development for ovarian cancer has stimulated development of patient-derived xenograft (PDX or tumorgraft models. However, the unintended formation of human lymphoma in severe combined immunodeficiency (SCID mice from Epstein-Barr virus (EBV–infected human lymphocytes can be problematic. In this study, we have characterized ovarian cancer PDXs which developed human lymphomas and explore methods to suppress lymphoproliferative growth. Fresh human ovarian tumors from 568 patients were transplanted intraperitoneally in SCID mice. A subset of PDX models demonstrated atypical patterns of dissemination with mediastinal masses, hepatosplenomegaly, and CD45-positive lymphoblastic atypia without ovarian tumor engraftment. Expression of human CD20 but not CD3 supported a B-cell lineage, and EBV genomes were detected in all lymphoproliferative tumors. Immunophenotyping confirmed monoclonal gene rearrangements consistent with B-cell lymphoma, and global gene expression patterns correlated well with other human lymphomas. The ability of rituximab, an anti-CD20 antibody, to suppress human lymphoproliferation from a patient's ovarian tumor in SCID mice and prevent growth of an established lymphoma led to a practice change with a goal to reduce the incidence of lymphomas. A single dose of rituximab during the primary tumor heterotransplantation process reduced the incidence of CD45-positive cells in subsequent PDX lines from 86.3% (n = 117 without rituximab to 5.6% (n = 160 with rituximab, and the lymphoma rate declined from 11.1% to 1.88%. Taken together, investigators utilizing PDX models for research should routinely monitor for lymphoproliferative tumors and consider implementing methods to suppress their growth.

  11. Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome

    Science.gov (United States)

    Teachey, David T.; Greiner, Robert; Seif, Alix; Attiyeh, Edward; Bleesing, Jack; Choi, John; Manno, Catherine; Rappaport, Eric; Schwabe, Dirk; Sheen, Cecilia; Sullivan, Kathleen E.; Zhuang, Hongming; Wechsler, Daniel S.; Grupp, Stephan A.

    2010-01-01

    Summary We hypothesized that sirolimus, an mTOR inhibitor, may be effective in patients with autoimmune lymphoproliferative syndrome (ALPS) and treated patients who were intolerant to or failed other therapies. Four patients were treated for autoimmune cytopenias; all had a rapid complete or near complete response. Two patients were treated for autoimmune arthritis and colitis, demonstrating marked improvement. Three patients had complete resolution of lymphadenopathy and splenomegaly and all patients had a reduction in double negative T cells, a population hallmark of the disease. Based on these significant responses, we recommend that sirolimus be considered as second-line therapy for patients with steroid-refractory disease. PMID:19208097

  12. Disturbed sleep in attention-deficit hyperactivity disorder (ADHD) is not a question of psychiatric comorbidity or ADHD presentation.

    Science.gov (United States)

    Virring, Anne; Lambek, Rikke; Thomsen, Per H; Møller, Lene R; Jennum, Poul J

    2016-06-01

    Attention-deficit hyperactivity disorder (ADHD) is a heterogeneous psychiatric disorder with three different presentations and high levels of psychiatric comorbidity. Serious sleep complaints are also common, but the role of the presentations and comorbidity in sleep is under-investigated in ADHD. Consequently, the goal of the study was to investigate sleep problems in medicine-naive school-aged children (mean age = 9.6 years) with ADHD compared to controls using objective methods and to examine the role of comorbidity and presentations. Ambulatory polysomnography results suggested that children with ADHD (n = 76) had significantly more sleep disturbances than controls (n = 25), including a larger percentage of rapid eye movement (REM) sleep and more sleep cycles, as well as lower mean sleep efficiency, mean non-REM (NREM) sleep stage 1 and mean NREM sleep stage 3. No significant between-group differences were found on the multiple sleep latency test. Stratifying for comorbidity in the ADHD group did not reveal major differences between groups, but mean sleep latency was significantly longer in children with ADHD and no comorbidity compared to controls (36.1 min; SD = 30.1 versus 22.6 min; SD = 15.2). No differences were found between ADHD presentations. Our results support the presence of night-time sleep disturbances in children with ADHD. Poor sleep does not appear to be attributable to comorbidity alone, nor do sleep disturbances differ within ADHD presentations. © 2016 European Sleep Research Society.

  13. Understanding Drug Resistance to Targeted Therapeutics in Malignant B-Cell Lymphoproliferative Disorders (B-LPDs)

    Science.gov (United States)

    2014-10-01

    1063-70. PMC2783430. 2. Zhang J, Jima DD, Jacobs C, Fischer R, Gottwein E, Huang G, Lugar PL, Lagoo AS, Rizzieri DA, Friedman DR, Weinberg JB...Khoury, Thomas R Klumpp, Hillard M Lazarus, Victor A Lewis, Philip L McCarthy, David A Rizzieri, Mitchell Sabloff, Jeff Szer, Martin S Tallman, and...malignant human B cells identifies hundreds of novel microRNAs. Blood. 2010;116(23):e118-27 5. Zhang J, Jima DD, Jacobs C, Fischer R, Gottwein E, Huang G

  14. Bone marrow involvement by lymphoproliferative disorders after renal transplantation: PTLD. Int. Survey

    Directory of Open Access Journals (Sweden)

    Morteza Izadi

    2012-01-01

    Conclusions: Renal recipients with BM PTLD represent worse outcome and more unfavorable histopathological phenomenon than in other organ involvements. Moreover, a concomitant PTLD involvement site in liver was found which necessitates full hepatic evaluation for a potential complication by the disease in renal recipients whose BM is involved.

  15. MLKL and FADD Are Critical for Suppressing Progressive Lymphoproliferative Disease and Activating the NLRP3 Inflammasome

    Directory of Open Access Journals (Sweden)

    Xixi Zhang

    2016-09-01

    Full Text Available MLKL, a key component downstream of RIPK3, is suggested to be a terminal executor of necroptosis. Genetic studies have revealed that Ripk3 ablation rescues embryonic lethality in Fadd- or Caspase-8-deficient mice. Given that RIPK3 has also been implicated in non-necroptotic pathways including apoptosis and inflammatory signaling, it remains unclear whether the lethality in Fadd−/− mice is indeed caused by necropotosis. Here, we show that genetic deletion of Mlkl rescues the developmental defect in Fadd-deficient mice and that Fadd−/−Mlkl−/− mice are viable and fertile. Mlkl−/−Fadd−/− mice display significantly accelerated lymphoproliferative disease characterized by lymphadenopathy and splenomegaly when compared to Ripk3−/− Fadd−/− mice. Mlkl−/−Fadd−/− bone-marrow-derived macrophages and dendritic cells have impaired NLRP3 inflammasome activation associated with defects in ASC speck formation and NF-κB-dependent NLRP3 transcription. Our findings reveal that MLKL and FADD play critical roles in preventing lymphoproliferative disease and activating the NLRP3 inflammasome.

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

    Science.gov (United States)

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

    2005-12-01

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

  17. Effects of Trigonelline, an Alkaloid Present in Coffee, on Diabetes-Induced Disorders in the Rat Skeletal System.

    Science.gov (United States)

    Folwarczna, Joanna; Janas, Aleksandra; Pytlik, Maria; Cegieła, Urszula; Śliwiński, Leszek; Krivošíková, Zora; Štefíková, Kornélia; Gajdoš, Martin

    2016-03-02

    Diabetes increases bone fracture risk. Trigonelline, an alkaloid with potential antidiabetic activity, is present in considerable amounts in coffee. The aim of the study was to investigate the effects of trigonelline on experimental diabetes-induced disorders in the rat skeletal system. Effects of trigonelline (50 mg/kg p.o. daily for four weeks) were investigated in three-month-old female Wistar rats, which, two weeks before the start of trigonelline administration, received streptozotocin (60 mg/kg i.p.) or streptozotocin after nicotinamide (230 mg/kg i.p.). Serum bone turnover markers, bone mineralization, and mechanical properties were studied. Streptozotocin induced diabetes, with significant worsening of bone mineralization and bone mechanical properties. Streptozotocin after nicotinamide induced slight glycemia increases in first days of experiment only, however worsening of cancellous bone mechanical properties and decreased vertebral bone mineral density (BMD) were demonstrated. Trigonelline decreased bone mineralization and tended to worsen bone mechanical properties in streptozotocin-induced diabetic rats. In nicotinamide/streptozotocin-treated rats, trigonelline significantly increased BMD and tended to improve cancellous bone strength. Trigonelline differentially affected the skeletal system of rats with streptozotocin-induced metabolic disorders, intensifying the osteoporotic changes in streptozotocin-treated rats and favorably affecting bones in the non-hyperglycemic (nicotinamide/streptozotocin-treated) rats. The results indicate that, in certain conditions, trigonelline may damage bone.

  18. Yersinia enterocolitica Infection Simulating Lymphoproliferative Disease, after Liver Transplant

    Directory of Open Access Journals (Sweden)

    E. Jakobovich

    2014-01-01

    Full Text Available We describe a 14-year-old girl, who was 13 y after liver transplantation for biliary atresia with an unremarkable postoperative course. She presented with fever of up to 40°C, extreme fatigue, malaise, anorexia, and occasional vomiting. On physical examination the only finding was splenomegaly. Lab results showed hyperglobulinemia and an elevated sedimentation rate. Liver function tests were normal except for mild elevation of γGTP. Abdominal U/S and CT demonstrated an enlarged spleen with retroperitoneal and mesenteric lymph nodes enlargement. An exhaustive evaluation for infectious causes, autoimmune conditions, and malignancy was negative. A full recovery after 5 months prompted testing for self-limited infectious etiologies. Yersinia enterocolitica infection was diagnosed.

  19. Frequency of brain MRI abnormalities in neuromyelitis optica spectrum disorder at presentation: A cohort of Latin American patients.

    Science.gov (United States)

    Carnero Contentti, Edgar; Daccach Marques, Vanessa; Soto de Castillo, Ibis; Tkachuk, Veronica; Antunes Barreira, Amilton; Armas, Elizabeth; Chiganer, Edson; de Aquino Cruz, Camila; Di Pace, José Luis; Hryb, Javier Pablo; Lavigne Moreira, Carolina; Lessa, Carmen; Molina, Omaira; Perassolo, Monica; Soto, Arnoldo; Caride, Alejandro

    2018-01-01

    Brain magnetic resonance imaging (BMRI) lesions were classically not reported in neuromyelitis optica (NMO). However, BMRI lesions are not uncommon in NMO spectrum disorder (NMOSD) patients. To report BMRI characteristic abnormalities (location and configuration) in NMOSD patients at presentation. Medical records and BMRI characteristics of 79 patients with NMOSD (during the first documented attack) in Argentina, Brazil and Venezuela were reviewed retrospectively. BMRI abnormalities were observed in 81.02% of NMOSD patients at presentation. Forty-two patients (53.1%) showed typical-NMOSD abnormalities. We found BMRI abnormalities at presentation in the brainstem/cerebellum (n = 26; 32.9%), optic chiasm (n = 16; 20.2%), area postrema (n = 13; 16.4%), thalamus/hypothalamus (n = 11; 13.9%), corpus callosum (n = 11; 13.9%), periependymal-third ventricle (n = 9; 11.3%), corticospinal tract (n = 7; 8.8%), hemispheric white matter (n = 1; 1.2%) and nonspecific areas (n = 49; 62.03%). Asymptomatic BMRI lesions were more common. The frequency of brain MRI abnormalities did not differ between patients who were positive and negative for aquaporin 4 antibodies at presentation. Typical brain MRI abnormalities are frequent in NMOSD at disease onset. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. The Role of Co-Occurring Disruptive Behavior in the Clinical Presentation of Children and Adolescents with Anxiety in the Context of Autism Spectrum Disorders

    Science.gov (United States)

    Storch, Eric A.; Arnold, Elysse B.; Jones, Anna M.; Ale, Chelsea M.; Wood, Jeffrey J.; Ehrenreich-May, Jill; Lewin, Adam B.; Mutch, P. Jane; Murphy, Tanya K.

    2012-01-01

    This study explored the impact of disruptive behavior disorder (DBD) comorbidity on theoretically relevant correlates among 87 children and adolescents with autism spectrum disorders (ASD) and clinically significant anxiety. Relative to youth with ASD and anxiety alone, participants with ASD, anxiety, and DBD: (a) presented with significantly more…

  1. Bone Marrow and Peripheral Blood Leptin Levels in Lymphoproliferative Diseases - Relation to the Bone Marrow Fat and Infiltration

    Czech Academy of Sciences Publication Activity Database

    Gaja, A.; Churý, Z.; Pecen, Ladislav; Fraňková, H.; Jandáková, H.; Hejlová, N.

    2000-01-01

    Roč. 47, č. 5 (2000), s. 307-312 ISSN 0028-2685 Institutional research plan: AV0Z1030915 Keywords : leptin * bone marrow fat * bone marrow infiltration * lymphoproliferative disease Subject RIV: BA - General Mathematics Impact factor: 0.579, year: 2000

  2. Construct validity and parent-child agreement of the six new or modified disorders included in the Spanish version of the Kiddie Schedule for Affective Disorders and Schizophrenia present and Lifetime Version DSM-5 (K-SADS-PL-5).

    Science.gov (United States)

    de la Peña, Francisco R; Rosetti, Marcos F; Rodríguez-Delgado, Andrés; Villavicencio, Lino R; Palacio, Juan D; Montiel, Cecilia; Mayer, Pablo A; Félix, Fernando J; Larraguibel, Marcela; Viola, Laura; Ortiz, Silvia; Fernández, Sofía; Jaímes, Aurora; Feria, Miriam; Sosa, Liz; Palacios-Cruz, Lino; Ulloa, Rosa E

    2018-06-01

    Changes to the Diagnostic and Statistical Manual of Mental Disorders fifth edition (DSM-5) incorporate the inclusion or modification of six disorders: Autism Spectrum Disorder, Social Anxiety Disorder, Intermittent Explosive Disorder, Disruptive Mood Dysregulation Disorder, Avoidant/Restrictive Food Intake Disorder and Binge Eating Disorder. The objectives of this study were to assess the construct validity and parent-child agreement of these six disorders in the Spanish language Schedule for Affective Disorders and Schizophrenia for School Age Children Present and Lifetime Version (K-SADS-PL-5) in a clinical population of children and adolescents from Latin America. The Spanish version of the K-SADS-PL was modified to integrate changes made to the DSM-5. Clinicians received training in the K-SADS-PL-5 and 90% agreement between raters was obtained. A total of 80 patients were recruited in four different countries in Latin America. All items from each of the six disorders were included in a factor analysis. Parent-child agreement was calculated for every item of the six disorders, including the effect of sex and age. The factor analysis revealed 6 factors separately grouping the items defining each of the new or modified disorders, with Eigenvalues greater than 2. Very good parent-child agreements (r>0.8) were found for the large majority of the items (93%), even when considering the sex or age of the patient. This independent grouping of disorders suggests that the manner in which the disorders were included into the K-SADS-PL-5 reflects robustly the DSM-5 constructs and displayed a significant inter-informant reliability. These findings support the use of K-SADS-PL-5 as a clinical and research tool to evaluate these new or modified diagnoses. Copyright © 2018. Published by Elsevier Ltd.

  3. Anti-NMDA Receptor Encephalitis Presenting as an Acute Psychotic Episode in a Young Woman: An Underdiagnosed yet Treatable Disorder

    Directory of Open Access Journals (Sweden)

    Shikma Keller

    2014-01-01

    Full Text Available Anti-NMDA receptor (NMDAR encephalitis is a recently identified autoimmune disorder with prominent psychiatric symptoms. Patients usually present with acute behavioral change, psychosis, catatonic symptoms, memory deficits, seizures, dyskinesias, and autonomic instability. In female patients an ovarian teratoma is often identified. We describe a 32-year-old woman who presented with acute psychosis. Shortly after admission, she developed generalized seizures and deteriorated into a catatonic state. Although ancillary tests including MRI, electroencephalogram, and cerebrospinal fluid (CSF analysis were unremarkable, the presentation of acute psychosis in combination with recurrent seizures and a relentless course suggested autoimmune encephalitis. The patient underwent pelvic ultrasound which disclosed a dermoid cyst and which led to an urgent cystectomy. Plasmapheresis was then initiated, yielding partial response over the next two weeks. Following the detection of high titers of anti-NMDAR antibodies in the CSF, the patient ultimately received second line immunosuppressive treatment with rituximab. Over several months of cognitive rehabilitation a profound improvement was eventually noted, although minor anterograde memory deficits remained. In this report we call for attention to the inclusion of anti-NMDAR encephalitis in the differential diagnosis of acute psychosis. Prompt diagnosis is critical as early immunotherapy and tumor removal could dramatically affect outcomes.

  4. Establishment and operation of a Good Manufacturing Practice-compliant allogeneic Epstein-Barr virus (EBV)-specific cytotoxic cell bank for the treatment of EBV-associated lymphoproliferative disease.

    Science.gov (United States)

    Vickers, Mark A; Wilkie, Gwen M; Robinson, Nicolas; Rivera, Nadja; Haque, Tanzina; Crawford, Dorothy H; Barry, Jacqueline; Fraser, Neil; Turner, David M; Robertson, Victoria; Dyer, Phil; Flanagan, Peter; Newlands, Helen R; Campbell, John; Turner, Marc L

    2014-11-01

    Epstein-Barr virus (EBV) is associated with several malignancies, including post-transplant lymphoproliferative disorder (PTLD). Conventional treatments for PTLD are often successful, but risk organ rejection and cause significant side effects. EBV-specific cytotoxic T lymphocytes (CTLs) generated in vitro from peripheral blood lymphocytes provide an alternative treatment modality with few side effects, but autologous CTLs are difficult to use in clinical practice. Here we report the establishment and operation of a bank of EBV-specific CTLs derived from 25 blood donors with human leucocyte antigen (HLA) types found at high frequency in European populations. Since licensure, there have been enquiries about 37 patients, who shared a median of three class I and two class II HLA types with these donors. Cells have been infused into ten patients with lymphoproliferative disease, eight of whom achieved complete remission. Neither patient with refractory disease was matched for HLA class II. Both cases of EBV-associated non-haematopoietic sarcoma receiving cells failed to achieve complete remission. Thirteen patients died before any cells could be issued, emphasizing that the bank should be contacted before patients become pre-terminal. Thus, this third party donor-derived EBV-specific CTL cell bank can supply most patients with appropriately matched cells and most recipients have good outcomes. © 2014 The Authors. British Journal of Haematology published by John Wiley & Sons Ltd.

  5. Functional impairment in adults positively screened for attention-deficit hyperactivity disorder: the role of symptom presentation and executive functioning.

    Science.gov (United States)

    Szuromi, Bálint; Bitter, István; Czobor, Pál

    2013-10-01

    While the number of symptoms of attention-deficit hyperactivity disorder (ADHD) decreases with age, a high proportion of adults with ADHD symptoms suffer from persistent functional impairment (Fi) linked to these symptoms. Our objective was to investigate the specific roles of two potentially important predictors of this Fi: the clinical symptom presentation and the deficit in executive functions (EFs). A total of 158 subjects from a community sample positively screened for ADHD were classified into two groups: those with and without Fi. Following a detailed diagnostic process, participants were administered a self-rating scale for ADHD symptoms as well as a neuropsychological test battery containing tests of EF and attention relevant as potential cognitive endophenotypes for ADHD. The overall number as well as the number of inattentive, hyperactive and impulsive symptoms, confirmed both by examiner and self-report, were significantly higher among Fi subjects. The highest odds ratio for Fi was associated with impulsive symptoms. Additionally, self-reported complaints of problems with self-concept were significantly higher among Fi subjects. No significant relationship between Fi and neuropsychological measures of EF and attention was detected. This study revealed that the number of symptoms, in particular that of impulsivity, had a significant impact on Fi in adults with symptoms of ADHD. Furthermore, our results underline the importance of assessing complaints and behaviors related to self-concept, which are not included in DSM-IV diagnostic criteria of ADHD but nonetheless may be associated with functional outcome of the disorder. Copyright © 2013 Elsevier Inc. All rights reserved.

  6. Children with a history of prematurity presenting with snoring and sleep-disordered breathing: a cross-sectional study.

    Science.gov (United States)

    Manuel, Anura; Witmans, Manisha; El-Hakim, Hamdy

    2013-08-01

    To report on the prevalence of premature (PM) birth in a consecutive series of children treated for snoring and sleep-disordered breathing (S/SDB), the parameters specific to their management and variables predictive of disease severity. A retrospective study was undertaken at a tertiary pediatric hospital. Children with history of PM and presenting with S/SDB were identified from a prospectively kept surgical database. We set out to determine the prevalence of PM among the patients presenting with S/SDB who required airway evaluations and surgery. Pulse oximetry is overnight recordable oxygen saturation and heart rate tracing that provides information about hypoxemia during sleep. This was performed on all children preoperatively. The pulse oximetry findings were used to plan for perioperative monitoring and care. A multivariable analysis was used to identify factors predictive of abnormal pulse oximetry studies. We evaluated the associated diagnoses, surgical procedures required, and response to treatment in these selected children. Fifty-seven out of 1,038 patients were PM (33 males; mean age, 62.09 ± 34.91 months; range, 4-190 months). The mean gestational age was 30.3 ± 4.0 weeks. The prevalence rate of PM among patients treated surgically for SDB is 5.5% (95% CI 5.2-5.8) at our center. Comorbid pulmonary and gastrointestinal disorders were encountered on 23 (40%) and 17 (29.8%) occasions, respectively, and were the most commonly encountered comorbid diagnostic categories. Large airway abnormalities were encountered in 11 (19.3%) children, and the most common were subglottic stenosis (four) and laryngeal paralysis (four). Comorbid respiratory disease was negatively predictive of abnormal pulse oximetry (coefficient -0.35, P<.05). Postoperative respiratory outcomes correlated with abnormal pulse oximetry (coefficient 0.3; P<.05). Our findings suggest children with PM presenting to pediatric otolaryngology require a comprehensive evaluation for S/SDB. A

  7. A Case Report of NK-Cell Lymphoproliferative Disease With a Wide Involvement of Digestive Tract Develop Into Epstein-Barr Virus Associated NK/T Cell Lymphoma in an Immunocompetent Patient.

    Science.gov (United States)

    Chen, Haotian; Zhang, Yu; Jiang, Zhinong; Zhou, Wei; Cao, Qian

    2016-03-01

    Epstein-Barr virus (EBV) plays an important role in various diseases. EBV-associated lymphoproliferative disease (LPD) is a rare disease with a canceration tendency. It is difficult to differentiate LPD with involvement of digestive tract from Crohn disease due to similar clinical and endoscopic manifestations. We present a case report of multiple ulcers with esophagus, small bowel and the entire colon involved, proved to be NK-Cell LPD, developed into EBV-associated NK/T Cell lymphoma, in an immunocompetent man who was initially misdiagnosed as Crohn disease.This report underscores that intestinal ulcers should be cautiously diagnosed, for it sometimes could be a precancerous lesion.

  8. Addison’s Disease and Possible Cannabis Withdrawal Syndrome Presenting as an Eating Disorder in a Thirty-Year-Old Female

    Directory of Open Access Journals (Sweden)

    Kimberly Lazare

    2017-01-01

    Full Text Available A 30-year-old female with a history of anxiety, cannabis use, and Avoidant/Restrictive Food Intake Disorder presented for residential treatment of a Cannabis Use Disorder. Upon arrival, she had not eaten for two days and was found to be hypotensive with electrolyte disturbances. She was admitted to a nearby hospital, where the Internist diagnosed her with Addison’s disease. She was treated with corticosteroid therapy, with rapid normalization of her electrolytes, eating, and anxiety. This is the first published case of undiagnosed Addison’s disease presenting as an eating disorder, with cannabis use likely contributing to symptoms. This case elucidates the importance of ruling out other biologic and psychologic causes of clinical presentations before an eating disorder diagnosis can be made.

  9. Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x)

    OpenAIRE

    Mention, K; Michaud, L; Dobbelaere, D; Guimber, D; Gottrand, F; Turck, D

    2001-01-01

    A case of severe and protracted diarrhoea is reported, which started in the neonatal period and progressively associated with neurological impairment, dysmorphy, hepatosplenomegaly, and hepatic insufficiency, from which the patient died at 2 years of age. Isoelectric focusing of serum transferrin showed a congenital disorder of glycosylation type I pattern but the basic defect could not be identified. This observation shows that congenital disorder of glycosylation is a cause of i...

  10. Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x)

    Science.gov (United States)

    Mention, K; Michaud, L; Dobbelaere, D; Guimber, D; Gottrand, F; Turck, D

    2001-01-01

    A case of severe and protracted diarrhoea is reported, which started in the neonatal period and progressively associated with neurological impairment, dysmorphy, hepatosplenomegaly, and hepatic insufficiency, from which the patient died at 2 years of age. Isoelectric focusing of serum transferrin showed a congenital disorder of glycosylation type I pattern but the basic defect could not be identified. This observation shows that congenital disorder of glycosylation is a cause of intractable diarrhoea in neonates.

 PMID:11668168

  11. The Clinical Phenotype of Idiopathic Rapid Eye Movement Sleep Behavior Disorder at Presentation: A Study in 203 Consecutive Patients.

    Science.gov (United States)

    Fernández-Arcos, Ana; Iranzo, Alex; Serradell, Mónica; Gaig, Carles; Santamaria, Joan

    2016-01-01

    To describe the clinical phenotype of idiopathic rapid eye movement (REM) sleep behavior disorder (IRBD) at presentation in a sleep center. Clinical history review of 203 consecutive patients with IRBD identified between 1990 and 2014. IRBD was diagnosed by clinical history plus video-polysomnographic demonstration of REM sleep with increased electromyographic activity linked to abnormal behaviors. Patients were 80% men with median age at IRBD diagnosis of 68 y (range, 50-85 y). In addition to the already known clinical picture of IRBD, other important features were apparent: 44% of the patients were not aware of their dream-enactment behaviors and 70% reported good sleep quality. In most of these cases bed partners were essential to convince patients to seek medical help. In 11% IRBD was elicited only after specific questioning when patients consulted for other reasons. Seven percent did not recall unpleasant dreams. Leaving the bed occurred occasionally in 24% of subjects in whom dementia with Lewy bodies often developed eventually. For the correct diagnosis of IRBD, video-polysomnography had to be repeated in 16% because of insufficient REM sleep or electromyographic artifacts from coexistent apneas. Some subjects with comorbid obstructive sleep apnea reported partial improvement of RBD symptoms following continuous positive airway pressure therapy. Lack of therapy with clonazepam resulted in an increased risk of sleep related injuries. Synucleinopathy was frequently diagnosed, even in patients with mild severity or uncommon IRBD presentations (e.g., patients who reported sleeping well, onset triggered by a life event, nocturnal ambulation) indicating that the development of a neurodegenerative disease is independent of the clinical presentation of IRBD. We report the largest IRBD cohort observed in a single center to date and highlight frequent features that were not reported or not sufficiently emphasized in previous publications. Physicians should be aware of

  12. Interplay between Schizophrenia Polygenic Risk Score and Childhood Adversity in First-Presentation Psychotic Disorder: A Pilot Study

    Science.gov (United States)

    Trotta, Antonella; Iyegbe, Conrad; Di Forti, Marta; Sham, Pak C.; Campbell, Desmond D.; Cherny, Stacey S.; Mondelli, Valeria; Aitchison, Katherine J.; Murray, Robin M.

    2016-01-01

    A history of childhood adversity is associated with psychotic disorder, with an increase in risk according to number or severity of exposures. However, it is not known why only some exposed individuals go on to develop psychosis. One possibility is pre-existing genetic vulnerability. Research on gene-environment interaction in psychosis has primarily focused on candidate genes, although the genetic effects are now known to be polygenic. This pilot study investigated whether the effect of childhood adversity on psychosis is moderated by the polygenic risk score for schizophrenia (PRS). Data were utilised from the Genes and Psychosis (GAP) study set in South London, UK. The GAP sample comprises 285 first-presentation psychosis cases and 256 unaffected controls with information on childhood adversity. We studied only white subjects (80 cases and 110 controls) with PRS data, as the PRS has limited predictive ability in patients of African ancestry. The occurrence of childhood adversity was assessed with the Childhood Experience of Care and Abuse Questionnaire (CECA.Q) and the PRS was based on genome-wide meta-analysis results for schizophrenia from the Psychiatric Genomics Consortium. Higher schizophrenia PRS and childhood adversities each predicted psychosis status. Nevertheless, no evidence was found for interaction as departure from additivity, indicating that the effect of polygenic risk scores on psychosis was not increased in the presence of a history of childhood adversity. These findings are compatible with a multifactorial threshold model in which both genetic liability and exposure to environmental risk contribute independently to the etiology of psychosis. PMID:27648571

  13. Interplay between Schizophrenia Polygenic Risk Score and Childhood Adversity in First-Presentation Psychotic Disorder: A Pilot Study.

    Science.gov (United States)

    Trotta, Antonella; Iyegbe, Conrad; Di Forti, Marta; Sham, Pak C; Campbell, Desmond D; Cherny, Stacey S; Mondelli, Valeria; Aitchison, Katherine J; Murray, Robin M; Vassos, Evangelos; Fisher, Helen L

    2016-01-01

    A history of childhood adversity is associated with psychotic disorder, with an increase in risk according to number or severity of exposures. However, it is not known why only some exposed individuals go on to develop psychosis. One possibility is pre-existing genetic vulnerability. Research on gene-environment interaction in psychosis has primarily focused on candidate genes, although the genetic effects are now known to be polygenic. This pilot study investigated whether the effect of childhood adversity on psychosis is moderated by the polygenic risk score for schizophrenia (PRS). Data were utilised from the Genes and Psychosis (GAP) study set in South London, UK. The GAP sample comprises 285 first-presentation psychosis cases and 256 unaffected controls with information on childhood adversity. We studied only white subjects (80 cases and 110 controls) with PRS data, as the PRS has limited predictive ability in patients of African ancestry. The occurrence of childhood adversity was assessed with the Childhood Experience of Care and Abuse Questionnaire (CECA.Q) and the PRS was based on genome-wide meta-analysis results for schizophrenia from the Psychiatric Genomics Consortium. Higher schizophrenia PRS and childhood adversities each predicted psychosis status. Nevertheless, no evidence was found for interaction as departure from additivity, indicating that the effect of polygenic risk scores on psychosis was not increased in the presence of a history of childhood adversity. These findings are compatible with a multifactorial threshold model in which both genetic liability and exposure to environmental risk contribute independently to the etiology of psychosis.

  14. Current trends in research and clinical issues in the study of personality and its disorders: a survey of the presentations at the ISSPD anniversary congress.

    Science.gov (United States)

    Simonsen, Erik; Sørensen, Per; Pedersen, Liselotte

    2014-10-01

    The International Society for the Study of Personality Disorders (ISSPD) celebrated its 25th anniversary in September 2013 in Copenhagen and commemorated the First International Congress at the same site. The overall theme of the congress was "Bridging Personality and Psychopathology: The Person Behind the Illness." More than 400 abstracts were submitted, and the program included 8 keynote presentations, 18 invited symposia, a debate on current controversial issues in the classification of personality disorders (Fossati, Tyrer, Livesley, and Krueger), an ISSPD award lecture (Silk), a jubilee lecture (Simonsen), a young researchers' symposium (Hopwood, Sharp, and Kaess), and special lectures on the Danish philosopher Soeren Kierkegaard and the poet Hans Christian Andersen. In this article we will survey the presentations and highlight the important issues in order to underline the current trends in research and clinical interests in personality disorders. The keynote video presentations, invited symposia, and slide presentations are freely available at www.isspd2013.com.

  15. How should DSM-V classify eating disorder not otherwise specified (EDNOS) presentations in women with lifetime anorexia or bulimia nervosa?

    Science.gov (United States)

    Eddy, K. T.; Swanson, S. A.; Crosby, R. D.; Franko, D. L.; Engel, S.; Herzog, D. B.

    2013-01-01

    Objective Anorexia nervosa (AN) and bulimia nervosa (BN) are marked by longitudinal symptom fluctuations. DSM-IV-TR does not address how to classify eating disorder (ED) presentations in individuals who no longer meet full criteria for these disorders. To consider this issue, we examined subthreshold presentations in women with initial diagnoses of AN and BN. Method A total of 246 women with AN or BN were followed for a median of 9 years; weekly symptom data were collected at frequent intervals using the Longitudinal Interval Follow-up Evaluation of Eating Disorders (LIFE-EAT-II). Outcomes were ED presentations that were subthreshold for ≥3 months, including those narrowly missing full criteria for AN or BN, along with binge eating disorder (BED) and purging disorder. Results During follow-up, most women (77.6%) experienced a subthreshold presentation. Subthreshold presentation was related to intake diagnosis (Wald χ2 = 8.065, df = 2, p = 0.018). Individuals with AN most often developed subthreshold presentations resembling AN; those with BN were more likely to develop subthreshold BN. Purging disorder was experienced by half of those with BN and one-quarter of those with AN binge/purge type (ANBP); BED occurred in 20% with BN. Transition from AN or BN to most subthreshold types was associated with improved psychosocial functioning (p < 0.001). Conclusions Subthreshold presentations in women with lifetime AN and BN were common, resembled the initial diagnosis, and were associated with modest improvements in psychosocial functioning. For most with lifetime AN and BN, subthreshold presentations seem to represent part of the course of illness and to fit within the original AN or BN diagnosis. PMID:20047706

  16. How should DSM-V classify eating disorder not otherwise specified (EDNOS) presentations in women with lifetime anorexia or bulimia nervosa?

    Science.gov (United States)

    Eddy, K T; Swanson, S A; Crosby, R D; Franko, D L; Engel, S; Herzog, D B

    2010-10-01

    Anorexia nervosa (AN) and bulimia nervosa (BN) are marked by longitudinal symptom fluctuations. DSM-IV-TR does not address how to classify eating disorder (ED) presentations in individuals who no longer meet full criteria for these disorders. To consider this issue, we examined subthreshold presentations in women with initial diagnoses of AN and BN. A total of 246 women with AN or BN were followed for a median of 9 years; weekly symptom data were collected at frequent intervals using the Longitudinal Interval Follow-up Evaluation of Eating Disorders (LIFE-EAT-II). Outcomes were ED presentations that were subthreshold for 3 months, including those narrowly missing full criteria for AN or BN, along with binge eating disorder (BED) and purging disorder. During follow-up, most women (77.6%) experienced a subthreshold presentation. Subthreshold presentation was related to intake diagnosis (Wald chi2=8.065, df=2, p=0.018). Individuals with AN most often developed subthreshold presentations resembling AN; those with BN were more likely to develop subthreshold BN. Purging disorder was experienced by half of those with BN and one-quarter of those with AN binge/purge type (ANBP); BED occurred in 20% with BN. Transition from AN or BN to most subthreshold types was associated with improved psychosocial functioning (p<0.001). Subthreshold presentations in women with lifetime AN and BN were common, resembled the initial diagnosis, and were associated with modest improvements in psychosocial functioning. For most with lifetime AN and BN, subthreshold presentations seem to represent part of the course of illness and to fit within the original AN or BN diagnosis.

  17. Maternal history of autoimmune disease in children presenting with tics and/or obsessive-compulsive disorder.

    Science.gov (United States)

    Murphy, T K; Storch, E A; Turner, A; Reid, J M; Tan, J; Lewin, A B

    2010-12-15

    A commonality across a number of pediatric neuropsychiatric disorders is a higher than typical rate of familial - and especially maternal - autoimmune disease. Of recent interest, a subtype of obsessive-compulsive disorder (OCD) and tic disorders known collectively as Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus (PANDAS) is believed to be secondary to central nervous system (CNS) autoimmunity that occurs in relation to group A streptococcal infection. Thus, we hypothesized that a sample of children with OCD and/or tics would have an increased maternal risk for an autoimmune response relative to population norms. We also expected maternal prevalence of various autoimmune diseases to be higher among those participants that met the putative criteria for PANDAS. We examined, via structured interview, the medical history of the biological mothers of 107 children with OCD and/or tics. Autoimmune disorders were reported in 17.8% of study mothers, which is significantly greater than the general prevalence among women in the United States (approximately 5%). Further, study mothers were more likely to report having an autoimmune disease if their children were considered "likely PANDAS" cases versus "unlikely PANDAS" cases. The results offer preliminary support for hypothesized links between maternal autoimmune disease and both OCD/tics and PANDAS in youth. Further research is necessary to clarify these general associations; links to specific autoimmune disease; and relevance of autoimmune disease in other family members (e.g., fathers). Copyright © 2010 Elsevier B.V. All rights reserved.

  18. Systemic Epstein-Barr Virus-positive T-Cell Lymphoproliferative Disease of Childhood With Good Response to Steroid Therapy.

    Science.gov (United States)

    Kim, Do-Hoon; Kim, Myungshin; Kim, Yonggoo; Han, Kyungja; Han, Eunhee; Lee, Jae Wook; Chung, Nack-Gyun; Cho, Bin

    2017-11-01

    Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare disease and has a very fulminant clinical course with high mortality. A 21-month-old female patient was referred to our hospital with a 1 week history of fever and was subsequently diagnosed with systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood. After starting treatment with dexamethasone, she showed early defervescence and improvement of laboratory parameters, and has remained disease-free after stopping steroid treatment, although longer follow-up is necessary. Our report underscores the possibility that this disease entity may be heterogenous in terms of prognosis.

  19. Sjögren syndrome presenting with hypopotassemic periodic paralysis due to renal tubular acidosis

    Science.gov (United States)

    Ataoglu, Esra Hayriye; Demir, Betul; Tuna, Mazhar; Çavus, Bilger; Cetin, Faik; Temiz, Levent Umit; Ozturk, Savas; Yenigun, Mustafa

    2012-01-01

    Summary Background: Sjögren syndrome (SS) is an autoimmune-lymphoproliferative disorder characterized by mononuclear cell infiltration of exocrine glands. Clinically, Sjögren syndrome (SS) has a wide spectrum, varying from autoimmune exocrinopathy to systemic involvement. There have been few cases reporting that primary SS developed with distal renal tubular acidosis clinically. Case Report: Here, we present a case with primary Sjögren syndrome accompanied by hypopotassemic paralysis due to renal tubular acidosis. Severe hypopotassemia, hyperchloremic metabolic acidosis, alkaline urine and disorder in urinary acidification test were observed in the biochemical examination of the 16-year-old female patient, who had applied to our clinic for extreme loss of muscle force. After the examinations it was determined that the patient had developed Type 1 RTA (distal RTA) due to primary Sjögren syndrome. Potassium and alkaline replacement was made and an immediate total recovery was achieved. Conclusions: Hypopotassemic paralysis due to primary Sjögren syndrome is a rare but severe disorder that could lead to death if not detected early and cured appropriately. Thus, effective treatment should be immediately initiated in cases where severe hypopotassemia is accompanied by metabolic acidosis, and the cases should also be examined for extraglandular involvement of SS. PMID:23569525

  20. Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.

    NARCIS (Netherlands)

    Spaapen, L.J.; Bakker, J.A.; Meer, S.B. van der; Sijstermans, H.J.; Steet, R.A.; Wevers, R.A.; Jaeken, J.

    2005-01-01

    Congenital disorders of glycosylation (CDG) represent a group of inherited multiorgan diseases caused by defects in the biosynthesis of glycoproteins. We report on two dysmorphic siblings with severe liver disease who died at the age of a few weeks. Increased activities of lysosomal enzymes in

  1. The Impact of Nonverbal Ability on Prevalence and Clinical Presentation of Language Disorder: Evidence from a Population Study

    Science.gov (United States)

    Norbury, Courtenay Frazier; Gooch, Debbie; Wray, Charlotte; Baird, Gillian; Charman, Tony; Simonoff, Emily; Vamvakas, George; Pickles, Andrew

    2016-01-01

    Background: Diagnosis of "specific" language impairment traditionally required nonverbal IQ to be within normal limits, often resulting in restricted access to clinical services for children with lower NVIQ. Changes to DSM-5 criteria for language disorder removed this NVIQ requirement. This study sought to delineate the impact of varying…

  2. The Influence of Presentation Modality on the Social Comprehension of Naturalistic Scenes in Adults with Autism Spectrum Disorder

    Science.gov (United States)

    Gedek, Haley M.; Pantelis, Peter C.; Kennedy, Daniel P.

    2018-01-01

    The comprehension of dynamically unfolding social situations is made possible by the seamless integration of multimodal information merged with rich intuitions about the thoughts and behaviors of others. We examined how high-functioning adults with autism spectrum disorder and neurotypical controls made a complex social judgment (i.e. rating the…

  3. Professional karate-do and mixed martial arts fighters present with a high prevalence of temporomandibular disorders.

    Science.gov (United States)

    Bonotto, Daniel; Namba, Eli Luis; Veiga, Danielle Medeiros; Wandembruck, Fernanda; Mussi, Felipe; Afonso Cunali, Paulo; Ribeiro Rosa, Edvaldo Antonio; Azevedo-Alanis, Luciana Reis

    2016-08-01

    Facial trauma in sports has been associated with temporomandibular disorders. Because of the intensity and duration of training needed for elite-level competitions, high-performance athletes can have two to five times more traumatic injuries than recreational athletes. This study aimed to investigate the prevalence of temporomandibular disorders in high-performance martial arts fighters and compare it with the prevalence in recreational athletes and non-athletes. The Research Diagnostic Criteria for Temporomandibular Disorders was used to diagnose and classify professional karate-do practitioners (group I; n = 24), amateur karate-do practitioners (group II; n = 17), high-performance mixed martial arts fighters (group III; n = 13), and non-athletes (n = 28). The groups were compared with the chi-square test and tested for the difference between two proportions using a significance level of 5% (P 0.05). A diagnosis of arthralgia from disk displacement was made more frequently in groups I (45.8%; P = 0.013) and III (38.5%; P = 0.012) than in group IV (7.1%). The chronic pain associated with TMD was low intensity and low disability. While there was a high prevalence of temporomandibular disorders in the professional athletes in our study, the prevalence of the condition in recreational athletes was similar to that in individuals who did not practice martial arts. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  4. Correlation between flow cytometry and histologic findings: ten year experience in the investigation of lymphoproliferative diseases

    Directory of Open Access Journals (Sweden)

    Alanna Mara Pinheiro Sobreira Bezerra

    2011-06-01

    Full Text Available Objective: To demonstrate the advantages of correlatingflow cytometry immunophenotyping with the pathology/immunohistochemistry of lymph nodes or nodules in the diagnosisof lymphoproliferative diseases. Methods: A retrospective studywas carried out of 157 biopsy or fine-needle aspiration lymph nodes/nodule specimens taken from 142 patients, from 1999 and 2009.The specimens were simultaneously studied with flow cytometryand pathology at Hospital Israelita Albert Einstein. The specimenswere prepared in hematoxylin/eosin, Giemsa, or monoclonal antibodystained slides for detecting specific antibodies for the purposesof pathology/immunohistochemical analysis. The samples werehemolyzed and marked with different monoclonal antibody panels fordifferent antigens in flow cytometry immunophenotyping. Results:The diagnostic results of pathology/immunohistochemical studiesand flow cytometry immunophenotyping agreed in 115 patients(81%, corresponding to 127 specimens, as follows according tothe pathologic diagnosis: 63 patients with non-Hodgkin’s B-celllymphoma; 26 patients with reactive lymphoid hyperplasia; 5 patientswith non-Hodgkin’s T-cell lymphoma; 4 patients with atypical lymphoidproliferation; 5 patients with a chronic granulomatous inflammatoryprocess; 5 patients with a non-hematologic diagnosis; 2 patientswith granulocytic sarcoma; 2 patients with thymoma; 1 patientwith byphenotypic leukemia; 1 patient with kappa plasmocytoma;1 patient with Hodgkin’s lymphoma. Subtypes of lymphomas couldbe classified by associating the two techniques: 19 patients withfollicular lymphoma; 15 patients with diffuse large B-cell lymphoma; 7patients with small lymphocytic B-cell lymphoma/chronic lymphocyticleukemia; 3 patients with mantle cell lymphoma; 1 patient withBurkitt’s lymphoma; 1 patient with MALT type lymphoma; 1 patientwith post-transplant lymphoproliferative disease; 2 patients with highgrade non-Hodgkin’s B-cell lymphoma; 1 patient with low grade

  5. Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders.

    Science.gov (United States)

    Cross, E M; Hare, D J

    2013-03-01

    The mucopolysaccharide disorders (MPS) are a group of recessively inherited metabolic disorders resulting in progressive physical and cognitive decline. MEDLINE, PsycINFO and Embase databases were searched, alongside manual screening, to identify relevant literature. Papers were included in the review if they were published in a peer reviewed journal and conducted empirical research into cognitive, motor, social or linguistic development or behaviour in one or more MPS disorders. Twenty-five papers were reviewed. Two papers used methodology of a sufficiently high standard to demonstrate a behavioural phenotype; both found sleep disturbance to be part of the phenotype of MPS III. Fearfulness and sleep disturbance were frequently observed in people with MPS I and II. Cognitive and motor impairment and decline, and challenging behaviour were highly prevalent in the severe form of MPS II. Cognitive decline and severe behavioural problems relating to aggression, hyperactivity, orality, unusual affect and temper tantrums were seen in MPS III. Sleep disturbance is part of the behavioural phenotype of MPS III, and challenging behaviour is highly prevalent in MPS II and MPS III, therefore the efficacy of behavioural interventions for these populations should be investigated. Further research into the behaviour and adaptive skills of children with MPS III and MPS IV is required.

  6. [Case of anti VGKC-complex antibody associated disorder presenting with severe pain and fasciculations predominant in unilateral upper extremity].

    Science.gov (United States)

    Hara, Kenju; Watanabe, Osamu; Shibano, Ken; Ishiguro, Hideaki

    2012-01-01

    A 21-year-old man complained of severe pain and muscle twitching localized in his right arm. Neurological examination showed muscle fasciculations in his right forearm but no myokymia or myotonia. Needle electromyography revealed fibrillation potentials in his biceps brachii muscle and extensor carpi radialis muscle at rest but no myokymic discharges. His serum anti-voltage-gated potassium channel (VGKC)-complex antibody level was significantly high (194.2pM; controls VGKC-complex antibody associated disorder.

  7. Comparison of parental socio-demographic factors in children and adolescents presenting with internalizing and externalizing disorders.

    Science.gov (United States)

    Alavi, Nazanin; Roberts, Nasreen; DeGrace, Elizabeth

    2017-04-01

    This study aimed to: (a) examine parental socio-demographic factors in children and adolescents referred to an outpatient service for internalizing and externalizing disorders, and (b) compare the demographic variables and diagnoses for the two diagnostic groups. Parents of all children who were referred to the child and adolescent outpatient service were asked to participate. Following their informed consent, they completed a socio-demographic questionnaire for themselves and a Child Behaviour Checklist (CBCL) for their child. The CBCL scores and the diagnoses assigned by the psychiatrists were then recorded for each child. Diagnoses were classified as internalizing or externalizing based on the primary DSM-IV diagnosis assigned by the psychiatrists. Data for the two groups were compared for study variables using Pearson correlation, t-tests, one-way ANOVA and logistic regression. Children who had externalizing disorders tended to live with unemployed single parents who had lower education levels and lived in rented or assisted housing. Children with internalizing problems tended to live in owned homes with employed parents. There was no significant association between age or gender for either group. Previous literature has reported an association between low SES and more mental health problems; however, the relationship between different indicators of SES and diagnosis is not clear. Despite small numbers, our study revealed significant differences between the parental socio-demographic factors for externalizing compared with internalizing disorders.

  8. [Lymphocytic Clonal Expansion in Adult Patients with Epstein-Barr Virus-Associated Lymphoproliferative Disease].

    Science.gov (United States)

    Zhong, Feng-Luan; Zhang, Hong-Yu; Zhang, Qian; Feng, Jia; Zhang, Wen-Li; Xu, Lei; Xu, Hai-Chan; Wen, Juan-Juan; Meng, Qing-Xiang

    2017-12-01

    To explore the lymphocytic clonal expansion in adult patients with Epstein-Barr virus-associated lymphoproliferative diseases (EBV+LPD), and to investigate the experimental methods for EBV+LPD cells so as to provide a more objective measure for the diagnosis, classification and prognosis in the early stage of this disease. Peripheral blood samples from 5 patients with EBV+LPD, 4 patients with adult infectious mononucleosis(IM) as negative control and 3 patients with acute NK-cell leukemia(ANKL) as positive control were collected. Prior to immunochemotherapy, viral loads and clonality were analysed by flow cytometry (FCM), T cell receptor gene rearrangement (TCR) was detected by real-time polymerase chain reaction (RT-PCR), and diversity of EB virus terminal repeat (EBV-TR) was detected by Southern blot. FCM showed only 1 case with clonal TCRVβ in 5 patients with EBV+LPD, TCR clonal expansion could be detected both in patients with IM(4 of 4) and 4 patients with EBV+LPD(4 of 5), Out of patients with EBV+LPD, 1 patient displayed a monoclonal band and 2 patients showed oligoclonal bands when detecting EBV-TR by southen blot. Detecting the diversity of EBV-TR by Southern blot may be the most objective way to reflex clonal transformation of EBV+LPD, which is of great benefit to the diagnosis, classification and prognosis in the early stage of this disease.

  9. Epstein-Barr virus lymphoproliferative disease after hematopoietic stem cell transplant.

    Science.gov (United States)

    Rouce, Rayne H; Louis, Chrystal U; Heslop, Helen E

    2014-11-01

    Epstein-Barr virus (EBV) reactivation can cause significant morbidity and mortality after allogeneic hematopoietic stem cell transplant. Delays in reconstitution of EBV-specific T lymphocyte activity can lead to life-threatening EBV lymphoproliferative disease (EBV-PTLD). This review highlights recent advances in the understanding of pathophysiology, risk factors, diagnosis, and management of EBV viremia and PTLD. During the past decade, early detection strategies, such as serial measurement of EBV-DNA load, have helped identify high-risk patients and diagnose early lymphoproliferation. The most significant advances have come in the form of innovative treatment options, including manipulation of the balance between outgrowing EBV-infected B cells and the EBV cytotoxic T lymphocyte response, and targeting infected B cells with monoclonal antibodies, chemotherapy, unmanipulated donor lymphocytes, and donor or more recently third-party EBV cytotoxic T lymphocytes. Defining criteria for preemptive therapy remains a challenge. EBV reactivation is a significant complication after stem cell transplant. Continued improvements in risk stratification and treatment options are required to improve the morbidity and mortality caused by EBV-associated diseases. Current approaches use rituximab to deplete B cells or adoptive transfer of EBV cytotoxic T lymphocyte to reconstitute immunity. The availability of rapid EBV-specific T cell products offers the possibility of improved outcomes.

  10. Leflunomide/teriflunomide inhibit Epstein-Barr virus (EBV)- induced lymphoproliferative disease and lytic viral replication.

    Science.gov (United States)

    Bilger, Andrea; Plowshay, Julie; Ma, Shidong; Nawandar, Dhananjay; Barlow, Elizabeth A; Romero-Masters, James C; Bristol, Jillian A; Li, Zhe; Tsai, Ming-Han; Delecluse, Henri-Jacques; Kenney, Shannon C

    2017-07-04

    EBV infection causes mononucleosis and is associated with specific subsets of B cell lymphomas. Immunosuppressed patients such as organ transplant recipients are particularly susceptible to EBV-induced lymphoproliferative disease (LPD), which can be fatal. Leflunomide (a drug used to treat rheumatoid arthritis) and its active metabolite teriflunomide (used to treat multiple sclerosis) inhibit de novo pyrimidine synthesis by targeting the cellular dihydroorotate dehydrogenase, thereby decreasing T cell proliferation. Leflunomide also inhibits the replication of cytomegalovirus and BK virus via both "on target" and "off target" mechanisms and is increasingly used to treat these viruses in organ transplant recipients. However, whether leflunomide/teriflunomide block EBV replication or inhibit EBV-mediated B cell transformation is currently unknown. We show that teriflunomide inhibits cellular proliferation, and promotes apoptosis, in EBV-transformed B cells in vitro at a clinically relevant dose. In addition, teriflunomide prevents the development of EBV-induced lymphomas in both a humanized mouse model and a xenograft model. Furthermore, teriflunomide inhibits lytic EBV infection in vitro both by preventing the initial steps of lytic viral reactivation, and by blocking lytic viral DNA replication. Leflunomide/teriflunomide might therefore be clinically useful for preventing EBV-induced LPD in patients who have high EBV loads yet require continued immunosuppression.

  11. Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.

    Science.gov (United States)

    Dowdell, Kennichi C; Niemela, Julie E; Price, Susan; Davis, Joie; Hornung, Ronald L; Oliveira, João Bosco; Puck, Jennifer M; Jaffe, Elaine S; Pittaluga, Stefania; Cohen, Jeffrey I; Fleisher, Thomas A; Rao, V Koneti

    2010-06-24

    Autoimmune lymphoproliferative syndrome (ALPS) is characterized by childhood onset of lymphadenopathy, hepatosplenomegaly, autoimmune cytopenias, elevated numbers of double-negative T (DNT) cells, and increased risk of lymphoma. Most cases of ALPS are associated with germline mutations of the FAS gene (type Ia), whereas some cases have been noted to have a somatic mutation of FAS primarily in their DNT cells. We sought to determine the proportion of patients with somatic FAS mutations among a group of our ALPS patients with no detectable germline mutation and to further characterize them. We found more than one-third (12 of 31) of the patients tested had somatic FAS mutations, primarily involving the intracellular domain of FAS resulting in loss of normal FAS signaling. Similar to ALPS type Ia patients, the somatic ALPS patients had increased DNT cell numbers and elevated levels of serum vitamin B(12), interleukin-10, and sFAS-L. These data support testing for somatic FAS mutations in DNT cells from ALPS patients with no detectable germline mutation and a similar clinical and laboratory phenotype to that of ALPS type Ia. These findings also highlight the potential role for somatic mutations in the pathogenesis of nonmalignant and/or autoimmune hematologic conditions in adults and children.

  12. Low incidence of lymphoproliferative disease post kidney transplantation with prevalent use of alemtuzumab

    Directory of Open Access Journals (Sweden)

    John Fredy Nieto-Ríos

    2014-01-01

    Full Text Available Introduction: It is well known that the incidence of malignancy is significantly higher in transplanted patients than in general population. The incidence of lymphoproliferative disease post-transplantation (PTLD is approximately of 1% to 2% in kidney transplantation recipients. Objective: The main objective of this study was to evaluate the PTLD incidence when monitoring kidney transplanted patients between the years 2005 and 2010. Methods: Kidney transplanted patients’ data was retrospectively taken between the years 2005 to 2010 in order to determine the number of PTLD cases according to the inductor scheme used. Results: 425 patients were transplanted between 2005 and 2010. They received alemtuzumab 76.2%, daclizumab 10.7%, basiliximab 3.6% and thymoglobulin 2.4%. The 7% did not receive antibody induction. During this period 2 cases of PTLD ocurred: One with multiple myeloma and the other with lymphoma. One of them had been treated with alemtuzumab and the other with thymoglobulin. Conclusions: The PTLD incidence in our group, where alemtuzumab was used predominantly as inductor, was very low; this might suggest that alemtuzumab is a medication that does not increase the risk of this kind of neoplasia.

  13. Imaging findings in children with proliferative disorders following multivisceral transplantation

    Energy Technology Data Exchange (ETDEWEB)

    Hryhorczuk, Anastasia L. [Tufts Medical Center, Department of Radiology, Boston, MA (United States); Kim, Heung Bae [Boston Children' s Hospital, Department of Surgery, Boston, MA (United States); Harris, Marian H.; Vargas, Sara O. [Boston Children' s Hospital, Department of Pathology, Boston, MA (United States); Zurakowski, David [Boston Children' s Hospital, Department of Biostatistics, Boston, MA (United States); Lee, Edward Y. [Boston Children' s Hospital and Harvard Medical School, Departments of Radiology and Medicine, Boston, MA (United States)

    2015-08-15

    Multivisceral transplantation represents an important treatment option for children with intestinal failure. The attendant immunosuppression can lead to a spectrum of cellular proliferations including benign and malignant smooth muscle tumors and lymphoproliferative disorders, many related to cellular dysregulation from Epstein-Barr virus infection. The purpose of this study is to investigate the rates of post-transplantation proliferative disorders among children with multivisceral transplantation and to characterize the imaging and pathological features of these disorders. We identified all consecutive children who underwent multivisceral transplant from August 2004 to October 2011 with at least 27 months of clinical and imaging follow-up. We reviewed medical records to determine the underlying causes of the multivisceral transplant, age at transplantation, onset of neoplasm development, and outcome. Two pediatric radiologists reviewed all imaging studies independently and diagnosis of disease was made by consensus interpretation. Pathological specimens were reviewed for histopathological findings of post-transplantation neoplasm in this pediatric patient population. The study population consisted of 14 consecutive pediatric patients (7 boys and 7 girls; mean age 26 months, range 4-113 months). Of these 14 children, 4 (29%) developed histologically confirmed post-transplant neoplasms at a mean time of 2.4 years after multivisceral transplantation. Types of neoplasms included post-transplant lymphoproliferative disorder (PTLD) in three (21%) and Epstein-Barr-virus-associated smooth muscle tumor in two (14%). (One child developed both neoplasms following transplantation). Both children with smooth muscle tumor associated with Epstein-Barr virus presented with characteristic hypointense solid masses with peripheral rim enhancement on cross-sectional imaging studies. The mortality rate of children who developed post-transplant neoplasms was higher than that of those

  14. Imaging findings in children with proliferative disorders following multivisceral transplantation

    International Nuclear Information System (INIS)

    Hryhorczuk, Anastasia L.; Kim, Heung Bae; Harris, Marian H.; Vargas, Sara O.; Zurakowski, David; Lee, Edward Y.

    2015-01-01

    Multivisceral transplantation represents an important treatment option for children with intestinal failure. The attendant immunosuppression can lead to a spectrum of cellular proliferations including benign and malignant smooth muscle tumors and lymphoproliferative disorders, many related to cellular dysregulation from Epstein-Barr virus infection. The purpose of this study is to investigate the rates of post-transplantation proliferative disorders among children with multivisceral transplantation and to characterize the imaging and pathological features of these disorders. We identified all consecutive children who underwent multivisceral transplant from August 2004 to October 2011 with at least 27 months of clinical and imaging follow-up. We reviewed medical records to determine the underlying causes of the multivisceral transplant, age at transplantation, onset of neoplasm development, and outcome. Two pediatric radiologists reviewed all imaging studies independently and diagnosis of disease was made by consensus interpretation. Pathological specimens were reviewed for histopathological findings of post-transplantation neoplasm in this pediatric patient population. The study population consisted of 14 consecutive pediatric patients (7 boys and 7 girls; mean age 26 months, range 4-113 months). Of these 14 children, 4 (29%) developed histologically confirmed post-transplant neoplasms at a mean time of 2.4 years after multivisceral transplantation. Types of neoplasms included post-transplant lymphoproliferative disorder (PTLD) in three (21%) and Epstein-Barr-virus-associated smooth muscle tumor in two (14%). (One child developed both neoplasms following transplantation). Both children with smooth muscle tumor associated with Epstein-Barr virus presented with characteristic hypointense solid masses with peripheral rim enhancement on cross-sectional imaging studies. The mortality rate of children who developed post-transplant neoplasms was higher than that of those

  15. Can You Tell Me Something about Yourself?: Self-Presentation in Children and Adolescents with High Functioning Autism Spectrum Disorder in Hypothetical and Real Life Situations

    Science.gov (United States)

    Scheeren, Anke M.; Begeer, Sander; Banerjee, Robin; Terwogt, Mark Meerum; Koot, Hans M.

    2010-01-01

    The self-presentation skills of children and adolescents with high-functioning autistic spectrum disorder (HFASD) and typically developing (TD) controls were compared, in response to both hypothetical and real life situations. In both situations, 26 HFASD and 26 TD participants were prompted to describe themselves twice, first in a baseline…

  16. A Comparative Study of the Use and Understanding of Self-Presentational Display Rules in Children with High Functioning Autism and Asperger's Disorder

    Science.gov (United States)

    Barbaro, Josephine; Dissanayake, Cheryl

    2007-01-01

    The use and understanding of self-presentational display rules (SPDRs) was investigated in 21 children with high-functioning autism (FHA), 18 children with Asperger's disorder (AspD) and 20 typically developing (TD) children (all male, aged 4- to 11-years, matched on mental age). Their behaviour was coded during a deception scenario to assess use…

  17. Iron, Magnesium, Vitamin D, and Zinc Deficiencies in Children Presenting with Symptoms of Attention-Deficit/Hyperactivity Disorder

    Directory of Open Access Journals (Sweden)

    Amelia Villagomez

    2014-09-01

    Full Text Available Attention-Deficit/Hyperactivity Disorder (ADHD is a neurodevelopmental disorder increasing in prevalence. Although there is limited evidence to support treating ADHD with mineral/vitamin supplements, research does exist showing that patients with ADHD may have reduced levels of vitamin D, zinc, ferritin, and magnesium. These nutrients have important roles in neurologic function, including involvement in neurotransmitter synthesis. The aim of this paper is to discuss the role of each of these nutrients in the brain, the possible altered levels of these nutrients in patients with ADHD, possible reasons for a differential level in children with ADHD, and safety and effect of supplementation. With this knowledge, clinicians may choose in certain patients at high risk of deficiency, to screen for possible deficiencies of magnesium, vitamin D, zinc, and iron by checking RBC-magnesium, 25-OH vitamin D, serum/plasma zinc, and ferritin. Although children with ADHD may be more likely to have lower levels of vitamin D, zinc, magnesium, and iron, it cannot be stated that these lower levels caused ADHD. However, supplementing areas of deficiency may be a safe and justified intervention.

  18. Synergistic defects of novo FAS and homozygous UNC13D leading to autoimmune lymphoproliferative syndrome-like disease: A 10-year-old Chinese boy case report.

    Science.gov (United States)

    Gu, Hao; Ma, Jie; Chen, Zhenping; Wang, Jing; Zhang, Rui; Wu, Runhui

    2018-06-01

    Autoimmune lymphoproliferative syndrome (ALPS) usually presents in childhood with fever, nonmalignant splenomegaly and lymphadenopathy along with hemocytopenia. This case report describes a 10-year-old boy presenting with signs of autoimmune disease, splenomegaly, hepatomegaly and resistant hemocytopenia. Sirolimus controlled the relapsed thrombocytopenia after splenectomy. Sequencing of the FAS gene identified two spontaneous heterozygous mutations (c.234 T > G, p.D78E) (c.236dupA, p.P80Tfs*26). The boy's homozygous missense variation (c.2588G > A, p.G863D) (rs140184929) in UNC13D gene had been identified as being related to familial hemophagocytic lymphohistiocytosis (FHL). TCRαβ + CD4/CD8 double-negative T cells (markers of ALPS) were not significantly increased from the outset. Elevated cytokines, such as interferon (IFN)-γ, interleukin (IL)-6 and tumor necrosis factor α decreased to normal levels after splenectomy whereas IL-10 remained high. Immunological analysis of the patient revealed a marked depletion of forkhead-box P3 + expressing regulatory T cells (Treg) and Th17 cells. The obtained data demonstrate that mutations to FAS and UNC13D which result in overwhelming T-cell and macrophage activation, one associated with inhibited Treg cell development and a severe ALPS-like symptom. Therefore, we propose that variations of UND13D may be a risk factor of ALPS development. Copyright © 2017. Published by Elsevier B.V.

  19. The performance of the K10, K6 and GHQ-12 to screen for present state DSM-IV disorders among disability claimants

    Directory of Open Access Journals (Sweden)

    Cornelius Bert LR

    2013-02-01

    Full Text Available Abstract Background Screening for mental disorders among disability claimants is important, since mental disorders seem to be seriously under-recognized in this population. However, performance of potentially suitable scales is unknown. We aimed to evaluate the psychometric properties of three scales, the 10- and 6-item Kessler Psychological Distress Scale (K10, K6 and the 12-item General Health Questionnaire (GHQ-12, to predict present state mental disorders, classified according to the Diagnostic and Statistical Manual of Mental Disorders, 4thEdition (DSM-IV among disability claimants. Methods All scales were completed by a representative sample of persons claiming disability benefit after two years sickness absence (n=293. All diagnoses, both somatic and mental, were included. The gold standard was the Composite International Diagnostic Interview (CIDI 3.0 to diagnose present state DSM-IV disorder. Cronbach’s α, sensitivity, specificity, positive (PPV and negative predictive values (NPV, and the areas under the Receiver Operating Characteristic curve (AUC were calculated. Results Cronbach’s alpha’s were 0.919 (K10, 0.882 (K6 and 0.906 (GHQ-12. The optimal cut-off scores were 24 (K10, 14 ( K6 and 20 (GHQ-12. The PPV and the NPV for the optimal cut point of the K10 was 0.53 and 0.89, for the K6 0.51 and 0.87, and for the GHQ-12 0.50 and 0.82. The AUC’s for 30-day cases were 0.806 (K10; 95% CI 0.749-0.862, 0.796 (K6; 95% CI 0.737-0.854 and 0.695 (GHQ-12; 95% CI 0.626-0.765. Conclusions The K10 and K6 are reliable and valid scales to screen for present state DSM-IV mental disorder. The optimal cut-off scores are 24 (K10 and 14 (K6. The GHQ-12 (optimal cut-off score: 20 is outperformed by the K10 and K6, which are to be preferred above the GHQ-12. The scores on separate items of the K10 and K6 can be used in disability assessment settings as an agenda for an in-depth follow-up clinical interview to ascertain the presence of present state

  20. Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders.

    Science.gov (United States)

    Krishna, Shri H; McKinney, Alexander M; Lucato, Leandro T

    2014-04-01

    Numerous congenital-genetic inborn errors of metabolism (CIEMs) have been identified and characterized in detail within recent decades, with promising therapeutic options. Neuroimaging is becoming increasingly utilized in earlier stages of CIEMs, and even in asymptomatic relatives of patients with a CIEM, so as to monitor disease progress and treatment response. This review attempts to summarize in a concise fashion the neuroimaging findings of various CIEMs that may present in adulthood, as well as those that may persist into adulthood, whether because of beneficial therapy or a delay in diagnosis. Notably, some of these disorders have neuroimaging findings that differ from their classic infantile or early childhood forms, whereas others are identical to their early pediatric forms. The focus of this review is their appearance on routine magnetic resonance imaging sequences, with some basic attention to the findings of such CIEMs on specialized neuroimaging, based on recent or preliminary research. The general classes of disorders covered in this complex review are: peroxisomal disorders (adrenoleukodystrophy), lysosomal storage disorders (including metachromatic leukodystrophy, Krabbe or globoid cell leukodystrophy, Fabry, Niemann-Pick, GM1, GM2, Gaucher, mucopolysaccharidoses, and Salla diseases), mitochondrial disorders (including mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes, myoclonic epilepsy with ragged red fibers, Leigh disease, and Kearns-Sayre syndrome), urea cycle disorders, several organic acidemias (including phenylketonuria, maple syrup urine disease, 3-hydroxy-3-methylglutaryl colyase deficiency, glutaric acidurias, methylmalonic academia, proprionic academia, 3-methylglucatonic aciduria, and 2-hydroxyglutaric acidurias), cytoskeletal or transporter molecule defects (including Alexander or fibrinoid leukodystrophy, proteolipid protein-1 defect or Pelizaeus Merzbacher, Wilson, and Huntington diseases), and several

  1. A clinical survey on the prevalence and types of cheek teeth disorders present in 400 Zamorano-Leonés and 400 Mirandês donkeys (Equus asinus).

    Science.gov (United States)

    Rodrigues, J B; Dixon, P M; Bastos, E; San Roman, F; Viegas, C

    2013-12-14

    Dental disease is now recognised as a major but often unrecognised disorder of equids, including horses and donkeys. However, very few large clinical studies have documented the prevalence and type of dental disease present in different equid populations and no dental studies have been reported in Zamorano-Leonés or Mirandês donkeys, two endangered donkey breeds. Clinical and detailed oral examinations were performed in 400 Mirandês and 400 Zamorano-Leonés donkeys in Portugal and Spain. It was found that just 4.5 per cent had ever received any previous dental care. Cheek teeth (CT) disorders were present in 82.8 per cent of these donkeys, ranging from a prevalence of 29.6 per cent in the 25-year-old group. These CT disorders included enamel overgrowths (73.1 per cent prevalence but with just 6.3 per cent having associated soft tissue injuries), focal overgrowths (37.3 per cent), periodontal disease (23.5 per cent) and diastemata (19.9 per cent). Peripheral caries was present in 5.9 per cent of cases, but inexplicably, infundibular caries was very rare (1.3 per cent prevalence); this may have been due to their almost fully foraged diet. The high prevalence of enamel overgrowths in these donkeys, most which never received concentrates, also raises questions about the aetiology of this disorder. This very high prevalence of CT disorders, especially in older donkeys, was of great welfare concern in some cases and emphasises the need for routine dental care in these cases on welfare grounds and in order to help preserve these unique breeds.

  2. Animal in vivo models of EBV-associated lymphoproliferative diseases: special references to rabbit models.

    Science.gov (United States)

    Hayashi, K; Teramoto, N; Akagi, T

    2002-10-01

    Animal models of human EBV-associated diseases are essential to elucidate the pathogenesis of EBV-associated diseases. Here we review those previous models using EBV or EBV-like herpesviruses and describe the details on our two newly-developed rabbit models of lymphoproliferative diseases (LPD) induced by simian EBV-like viruses. The first is Cynomolgus-EBV-induced T-cell lymphomas in rabbits inoculated intravenously (77-90%) and orally (82-89%) during 2-5 months. EBV-DNA was detected in peripheral blood by PCR from 2 days after oral inoculation, while anti-EBV-VCA IgG was raised 3 weeks later. Rabbit lymphomas and their cell lines contained EBV-DNA and expressed EBV-encoded RNA-1 (EBER-1). Rabbit lymphoma cell lines, most of which have specific chromosomal abnormality, showed tumorigenicity in nude mice. The second is the first animal model for EBV-infected T-cell LPD with virus-associated hemophagocytic syndrome (VAHS), using rabbits infected with an EBV-like herpesvirus, Herpesvirus papio (HVP). Rabbits inoculated intravenously with HVP-producing cells showed increased anti-EBV-VCA-IgG titers, and most (85%) subsequently died of fatal LPD and VAHS, with bleeding and hepatosplenomegaly, during 22-105 days. Peroral spray of cell-free HVP induced viral infection with seroconversion in 3 out of 5 rabbits, with 2 of the 3 infected rabbits dying of LPD with VAHS. Atypical T lymphocytes containing HVP-DNA and expressing EBER-1 were observed in many organs. Hemophagocytic histiocytosis was observed in the lymph nodes, spleen, bone marrow, and thymus. These rabbit models are also useful and inexpensive alternative experimental model systems for studying the biology and pathogenesis of EBV, and prophylactic and therapeutic regimens.

  3. Atypical presentation of multicentric Castleman disease in a pediatric patient: pleural and pericardial effusion.

    Science.gov (United States)

    Akman, Alkim Oden; Basaran, Ozge; Ozyoruk, Derya; Han, Unsal; Sayli, Tulin; Cakar, Nilgun

    2016-06-01

    Castleman disease (CD) is a rare poorly understood lymphoproliferative disorder. Pediatric onset CD has been reported before. However, most of them have benign unicentric pattern. Multicentric CD (MCD) is quite rare in children. Herein, we report a 13-year-old adolescent boy with MCD of the hyaline vascular variant presenting with pleural and pericardial effusion, which is an uncommon presentation. MCD should be considered in the differential diagnosis of pleural and/or pericardial effusion with unexplained lymph nodes in children. What is Known •Pediatric Castleman disease (CD) most commonly occurs in the unicentric form, which typically is asymptomatic and cured by lymph node excision. •The diagnosis of MCD can be difficult owing to the heterogeneity of presentation and potential for nonspecific multisystem involvement. What is New •A 13-year-old adolescent boy was diagnosed with MCD of the hyaline vascular variant presenting with pleural and pericardial effusion, which is an uncommon presentation. •In a pediatric patient with fever, pleural-pericardial effusion and multiple lymph nodes, MCD should be considered in differantial diagnosis.

  4. X-Linked Lymphoproliferative Syndrome and Common Variable Immunodeficiency May Not Be Differentiated by SH2D1A and XIAP/BIRC4 Genes Sequence Analysis

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    Nesrin Gulez

    2011-01-01

    Full Text Available The X-linked lymphoproliferative syndrome (XLP is a rare, inherited immunodeficiency characterized by recurrent episodes of hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, and/or lymphomas. Recently, X-linked inhibitor of apoptosis (XIAP/BIRC4 gene defects, in families with XLP but without SH2D1A gene defects, has been defined. The distinction from primary immunodeficiencies with a defined genetic cause is mandatory. A six-year-old male patient was admitted with the complaints of persistent general lymphadenopathy, for two years had fever, bilateral cervical multiple microlymphadenopathy, hepatic/splenic enlargement with laboratory findings as decreased serum immunoglobulins, negative EBV VCA IgM (viral capsid antigen and anti-EBV EA (antibody to early D antigen, positive EBV VCA IgG (viral capsid antigen and EBV EBNA (antibody to nuclear antigen. SH2D1A gene analysis was negative. XIAP/BIRC4 sequencing revealed two novel single nucleotide variants (exon 7, 1978G > A, and 1996T > A in the 3′UTR of the gene in both patient and mother which were not disease causing. XIAP protein expression was found to be normal. The clinical and laboratory resemblance, no gene mutations, and normal XIAP protein expression led us to think that there may be another responsible gene for XLP. The patient will to be followed up as CVID until he presents new diagnostic signs or until the identification of a new gene.

  5. Utility of simultaneous assessment of bone marrow aspirates and trephine biopsy sections in various haematological disorders

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    Vandana Puri

    2018-01-01

    Conclusion: Bone marrow aspiration alone is sufficient for the diagnosis of megaloblastic anemia and most of the hematological malignancies. Bone marrow biopsy is more appropriate for detection of disorders with focal marrow involvement such as lymphoproliferative disorders, metastatic cancer, focal blast crisis in CML, granulomatous lesions, and hypoplastic marrow. However, it is strongly recommended that both should be reviewed simultaneously to ensure maximum diagnostic accuracy.

  6. SYMPTOM PRESENTATIONS AND CLASSIFICATION OF AUTISM SPECTRUM DISORDER IN EARLY CHILDHOOD: APPLICATION TO THE DIAGNOSTIC CLASSIFICATION OF MENTAL HEALTH AND DEVELOPMENTAL DISORDERS OF INFANCY AND EARLY CHILDHOOD (DC:0-5).

    Science.gov (United States)

    Soto, Timothy; Giserman Kiss, Ivy; Carter, Alice S

    2016-09-01

    Over the past 5 years, a great deal of information about the early course of autism spectrum disorder (ASD) has emerged from longitudinal prospective studies of infants at high risk for developing ASD based on a previously diagnosed older sibling. The current article describes early ASD symptom presentations and outlines the rationale for defining a new disorder, Early Atypical Autism Spectrum Disorder (EA-ASD) to accompany ASD in the new revision of the ZERO TO THREE Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood (DC:0-5) (in press) alternative diagnostic classification manual. EA-ASD is designed to identify children who are 9 to 36 months of age presenting with a minimum of (a) two social-communication symptoms and (b) one repetitive and restricted behavior symptom as well as (c) evidence of impairment, with the intention of providing these children with appropriately tailored services and improving the likelihood of optimizing their development. © 2016 Michigan Association for Infant Mental Health.

  7. "Frank" presentations as a novel research construct and element of diagnostic decision-making in autism spectrum disorder.

    Science.gov (United States)

    de Marchena, Ashley; Miller, Judith

    2017-04-01

    Many individuals with ASD have a distinctive behavioral presentation that is recognizable within moments, a phenomenon we call "frank" ASD. This phenomenon has been discussed informally for decades, perhaps as "classic" ASD; however, there is no unitary "classic" presentation, and classic autism does not seem to correspond to level of functioning. Thus, neither "frank" nor "classic" autism has been delineated or studied as a research construct. To initiate the empirical study of frank ASD, we surveyed 151 clinicians, from a range of disciplines that diagnose ASD, about this phenomenon. Respondents completed a 13-item questionnaire about frank ASD, which was analyzed using a mixed-methods approach. Ninety-seven percentage of respondents were familiar with the phenomenon. Respondents estimated that 40% of the ASD population has a frank presentation. Respondents reported the most highly specific behaviors associated with frank presentations were a general sense of impaired reciprocity, quality of eye contact, atypical vocal prosody, presence of motor mannerisms, and atypical gait or posture. In general, respondents reported detecting frank features rapidly, with the majority forming their impressions within the first ten minutes of interaction or observation. Although unstudied empirically, "frank" presentations of ASD are familiar to diagnosing clinicians, and appear to be based on behaviors both central to ASD diagnostic criteria (e.g., impaired reciprocity), and absent from diagnostic criteria (e.g., atypical gait or posture). We discuss these findings within the context of diagnostic decision-making and behavioral phenotyping of ASD. Autism Res 2016,. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 653-662. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

  8. Prevention of EBV lymphoma development by oncolytic myxoma virus in a murine xenograft model of post-transplant lymphoproliferative disease

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Manbok, E-mail: manbok66@dankook.ac.kr [Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610 (United States); Rahman, Masmudur M. [Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610 (United States); Cogle, Christopher R. [Department of Hematology/Oncology, University of Florida, Gainesville, FL 32610 (United States); McFadden, Grant [Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610 (United States)

    2015-07-10

    Epstein–Barr virus (EBV) has been associated with a variety of epithelial and hematologic malignancies, including B-, T- and NK cell-lymphomas, Hodgkin's disease (HD), post-transplant lymphoproliferative diseases (LPDs), nasopharyngeal and gastric carcinomas, smooth muscle tumors, and HIV-associated lymphomas. Currently, treatment options for EBV-associated malignancies are limited. We have previously shown that myxoma virus specifically targets various human solid tumors and leukemia cells in a variety of animal models, while sparing normal human or murine tissues. Since transplant recipients of bone marrow or solid organs often develop EBV-associated post-transplant LPDs and lymphoma, myxoma virus may be of utility to prevent EBV-associated malignancies in immunocompromised transplant patients where treatment options are frequently limited. In this report, we demonstrate the safety and efficacy of myxoma virus purging as a prophylactic strategy for preventing post-transplant EBV-transformed human lymphomas, using a highly immunosuppressed mouse xenotransplantation model. This provides support for developing myxoma virus as a potential oncolytic therapy for preventing EBV-associated LPDs following transplantation of bone marrow or solid organ allografts. - Highlights: • Myxoma virus effectively infects and purges EBV lymphoma cells in vivo. • Oncolytic myxoma virus effectively eradicates oncogenic EBV tumorigenesis. • Ex vivo pre-treatment of myxoma virus can be effective as a preventive treatment modality for post-transplant lymphoproliferative diseases.

  9. Epstein-Barr Virus-Negative Post-Transplant Lymphoproliferative Diseases: Three Distinct Cases from a Single Center

    Directory of Open Access Journals (Sweden)

    Şule Mine Bakanay

    2014-03-01

    Full Text Available Three cases of Epstein-Barr virus (EBV-negative post-transplant lymphoproliferative disease that occurred 6 to 8 years after renal transplantation are reported. The patients respectively had gastric mucosa-associated lymphoid tissue lymphoma, gastric diffuse large B-cell lymphoma, and atypical Burkitt lymphoma. Absence of EBV in the tissue samples was demonstrated by both in situ hybridization for EBV early RNA and polymerase chain reaction for EBV DNA. Patients were treated with reduction in immunosuppression and combined chemotherapy plus an anti-CD20 monoclonal antibody, rituximab. Despite the reduction in immunosuppression, patients had stable renal functions without loss of graft functions. The patient with atypical Burkitt lymphoma had an abnormal karyotype, did not respond to treatment completely, and died due to disease progression. The other patients are still alive and in remission 5 and 3 years after diagnosis, respectively. EBV-negative post-transplant lymphoproliferative diseases are usually late-onset and are reported to have poor prognosis. Thus, reduction in immunosuppression is usually not sufficient for treatment and more aggressive approaches like rituximab with combined chemotherapy are required.

  10. Lack of correlation between immunologic markers and cell surface ultrastructure in the leukemic phase of lymphoproliferative diseases

    Energy Technology Data Exchange (ETDEWEB)

    Golomb, Harvey M.; Simon, Deberah

    1977-01-01

    In a prospective study of malignant cells from 13 patients with the leukemic phase of lymphoproliferative diseases, we wished to determine whether any correlation between the immunologic markers and the cell surface ultrastructure. Five patients had chronic lymphocytic leukemia, four had malignant lymphomas, poorly differentiated lymphocytic type, two had the Sezary syndrome, and one each had acute prolymphocytic leukemia and acute lymphocytic leukemia. Cell separation and isolation was done at room temperature for all specimens. Immunologic markers tested for were surface immunoglobins, a B-cell property, and E-rosettes, a T-cell property. Three patients had T-cell diseases, 6 had B-cell diseases, and 4 were classified as ''null.'' All but one patient had moderate to large numbers of microvilli on their malignant cells. The single exception had a typical B-cell form of chronic lymphocytic leukemia. There appears to be no correlation between immunologic markers and cell surface ultrastructure; therefore, SEM appears not to be valuable in the diagnosis or classification of immunologic sub-types of certain lymphoproliferative diseases.

  11. Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.

    Science.gov (United States)

    Ono, Shintaro; Nakayama, Manabu; Kanegane, Hirokazu; Hoshino, Akihiro; Shimodera, Saeko; Shibata, Hirofumi; Fujino, Hisanori; Fujino, Takahiro; Yunomae, Yuta; Okano, Tsubasa; Yamashita, Motoi; Yasumi, Takahiro; Izawa, Kazushi; Takagi, Masatoshi; Imai, Kohsuke; Zhang, Kejian; Marsh, Rebecca; Picard, Capucine; Latour, Sylvain; Ohara, Osamu; Morio, Tomohiro

    2018-05-18

    Epstein-Barr virus (EBV) is associated with several life-threatening diseases, such as lymphoproliferative disease (LPD), particularly in immunocompromised hosts. Some categories of primary immunodeficiency diseases (PIDs) including X-linked lymphoproliferative syndrome (XLP), are characterized by susceptibility and vulnerability to EBV infection. The number of genetically defined PIDs is rapidly increasing, and clinical genetic testing plays an important role in establishing a definitive diagnosis. Whole-exome sequencing is performed for diagnosing rare genetic diseases, but is both expensive and time-consuming. Low-cost, high-throughput gene analysis systems are thus necessary. We developed a comprehensive molecular diagnostic method using a two-step tailed polymerase chain reaction (PCR) and a next-generation sequencing (NGS) platform to detect mutations in 23 candidate genes responsible for XLP or XLP-like diseases. Samples from 19 patients suspected of having EBV-associated LPD were used in this comprehensive molecular diagnosis. Causative gene mutations (involving PRF1 and SH2D1A) were detected in two of the 19 patients studied. This comprehensive diagnosis method effectively detected mutations in all coding exons of 23 genes with sufficient read numbers for each amplicon. This comprehensive molecular diagnostic method using PCR and NGS provides a rapid, accurate, low-cost diagnosis for patients with XLP or XLP-like diseases.

  12. Prevention of EBV lymphoma development by oncolytic myxoma virus in a murine xenograft model of post-transplant lymphoproliferative disease

    International Nuclear Information System (INIS)

    Kim, Manbok; Rahman, Masmudur M.; Cogle, Christopher R.; McFadden, Grant

    2015-01-01

    Epstein–Barr virus (EBV) has been associated with a variety of epithelial and hematologic malignancies, including B-, T- and NK cell-lymphomas, Hodgkin's disease (HD), post-transplant lymphoproliferative diseases (LPDs), nasopharyngeal and gastric carcinomas, smooth muscle tumors, and HIV-associated lymphomas. Currently, treatment options for EBV-associated malignancies are limited. We have previously shown that myxoma virus specifically targets various human solid tumors and leukemia cells in a variety of animal models, while sparing normal human or murine tissues. Since transplant recipients of bone marrow or solid organs often develop EBV-associated post-transplant LPDs and lymphoma, myxoma virus may be of utility to prevent EBV-associated malignancies in immunocompromised transplant patients where treatment options are frequently limited. In this report, we demonstrate the safety and efficacy of myxoma virus purging as a prophylactic strategy for preventing post-transplant EBV-transformed human lymphomas, using a highly immunosuppressed mouse xenotransplantation model. This provides support for developing myxoma virus as a potential oncolytic therapy for preventing EBV-associated LPDs following transplantation of bone marrow or solid organ allografts. - Highlights: • Myxoma virus effectively infects and purges EBV lymphoma cells in vivo. • Oncolytic myxoma virus effectively eradicates oncogenic EBV tumorigenesis. • Ex vivo pre-treatment of myxoma virus can be effective as a preventive treatment modality for post-transplant lymphoproliferative diseases

  13. Clinicopathologic Assessment of Ocular Adnexal Lymphoproliferative Lesions at a Tertiary Eye Hospital in Iran.

    Science.gov (United States)

    Asadi-Amoli, Fahimeh; Nozarian, Zohreh; Bonaki, Hirbod Nasiri; Mehrtash, Vahid; Entezari, Samaneh

    2016-01-01

    The most common type of ocular lymphoma is non-Hodgkin lymphoma (NHL), categorized into two groups: indolent (slow growing) and aggressive (rapid growing). Differentiating benign reactive lymphoid hyperplasia (RLH) from malignant ocular adnexal lymphoma (OAL) is challenging. Histopathology, immunohistochemistry (IHC) and ow cytometry have been used as diagnostic tools in such cases. In this retrospective case series, from 2002 to 2013 at Farabi Eye Center, 110 patients with ocular lymphoproliferative disease were enrolled. Prevalence, anatomical locations, mean age at diagnosis and the nal diagnosis of the disease with IHC were assessed. Comparison between previous pathologic diagnoses and results of IHC was made. Immunoglobulin light chains and B-cell and T-cell markers and other immuno-phenotyping markers including CD20, CD3, CD5, CD23, CD10, CYCLIND1 and BCL2 were evaluated to determine the most accurate diagnosis. The lymphomas were categorized based on revised European-American lymphoma (REAL) classi cation. Mean age±SD (years) of the patients was 55.6 ±19.3 and 61% were male. Patients with follicular lymphoma, large B-cell lymphoma or chronic lymphocytic leukemia/small cell lymphoma (CLL/SLL) tended to be older. Nine patients with previous diagnoses of low grade B-cell lymphoma were re-evaluated by IHC and the new diagnoses were as follows: extranodal marginal zone lymphoma(EMZL) (n=1), SLL(n=1), mantle cell lymphoma (MCL) (n=3), reactive lymphoid hyperplasia RLH (n=2). Two cases were excluded due to poor blocks. Flow cytometry reports in these seven patients revealed SLL with positive CD5 and CD23, MCL with positive CD5 and CyclinD1 and negative CD23, EMZL with negative CD5,CD23 and CD10. One RLH patient was negative for Kappa/Lambda and positive for CD3 and CD20 and the other was positive for all of the light chains, CD3 and CD20. Orbit (49.1%), conjunctiva (16.1%) and lacrimal glands (16.1%) were the most common sites of involvement. Accurate

  14. No Evidence for JAK2(V617F) Mutation in Monoclonal B Cells in 2 Patients with Polycythaemia Vera and Concurrent Monoclonal B Cell Disorder

    NARCIS (Netherlands)

    Stijnis, C.; Kroes, W. G. M.; Balkassmi, S.; Marijt, E. W. A.; van Rossum, A. P.; Bakker, E.; Vlasveld, L. T.

    2012-01-01

    Occurrence of Philadelphia chromosome-negative myeloproliferative neoplasms (Ph- MPN) and lymphoproliferative disorders, like B cell chronic lymphocytic leukaemia (B-CLL), in the same patient is rare. JAK2(V617F) mutation was recently introduced as a powerful diagnostic tool for Ph- MPN. JAK2(V617F)

  15. Differences in clinical presentation and pregnancy outcomes in antepartum preeclampsia and new-onset postpartum preeclampsia: Are these the same disorder?

    Science.gov (United States)

    Vilchez, Gustavo; Hoyos, Luis R; Leon-Peters, Jocelyn; Lagos, Moraima; Argoti, Pedro

    2016-11-01

    New-onset postpartum preeclampsia is a poorly defined condition that accounts for a significant percentage of eclampsia cases. It is unclear whether new-onset postpartum preeclampsia is a different disorder from or belongs to the same spectrum of classic antepartum preeclampsia. The objective of this study was to compare the clinical presentation and pregnancy outcomes of antepartum preeclampsia and new-onset postpartum preeclampsia. A retrospective study including 92 patients with antepartum preeclampsia and 92 patients with new-onset postpartum preeclampsia was performed. Clinical presentation and pregnancy outcomes were compared. Chi-square test was used to analyze categorical variables, and independent t -test and Mann-Whitney U -test for numerical variables. P -values of presentation, laboratory markers and pregnancy outcomes. New-onset postpartum preeclampsia has a distinct patient profile and clinical presentation than antepartum preeclampsia, suggesting they may represent different disorders. Characterization of a patient profile with increased risk of developing this condition will help clinicians to identify patients at risk and provide early and targeted interventions to decrease the morbidity associated with this condition.

  16. Rituximab therapy in a patient with low grade B-cell lymphoproliferative disease and concomitant acquired angioedema

    Directory of Open Access Journals (Sweden)

    Kaur R

    2014-12-01

    Full Text Available Ravdeep Kaur, Aerik Anthony Williams, Catherine Baker Swift, Jason W Caldwell Wake Forest University School of Medicine, Wake Forest University, Winston-Salem, NC, USA Abstract: Acquired angioedema is often associated with significant morbidity. An underlying lymphatic malignancy, autoimmune disorder, adenocarcinoma, or other malignancy may be present. Screening for these disorders should occur in all patients with acquired angioedema as treatment may result in resolution of angioedema. Keywords: complement, C1-INH deficiency, ecallantide, hemopathy

  17. [Nineteen cases of school-aged children with degenerative or metabolic neurological disorders initially presenting with learning difficulty and/or behavior disturbance].

    Science.gov (United States)

    Honzawa, Shiho; Sugai, Kenji; Akaike, Hiroto; Nakayama, Tojo; Fujikawa, Yoshinao; Komaki, Hirofumi; Nakagawa, Eiji; Sasaki, Masayuki

    2012-07-01

    We reported 19 cases of school-aged children. They were initially judged to have learning difficulty or school maladaptation because of attention deficits, hyperactive behaviors or poor school performance, followed by the diagnosis such as degenerative or metabolic neurological diseases. The patients consisted of 4 cases of adrenoleukodystrophy, 5 cases of dentatorubral-pallidoluysian atrophy, 3 cases of Sanfilippo syndrome, 3 cases of subacute sclerosing panencephalitis, and each one case of juvenile Gaucher disease, juvenile Huntington disease, juvenile metachromatic leukodystrophy and Leigh disease. They had markedly poor school performance, and/or abnormal behaviors, followed by seizures, character disorders or psychomotor regression. The diagnostic clues included brain CT scan and/or MRI, peculiar facial appearance and notable family histories. When the children were indicated to have learning difficulty or maladjustment to school life, we should make deliberate differential diagnoses before concluding that they have a learning disorder and/or attention-deficit/hyperactivity disorder. Instead they should be recommended to visit child neurologists, when they present with any problems as aforesaid.

  18. Anti-N-methyl-D-aspartate receptor(NMDAR) antibody encephalitis presents in atypical types and coexists with neuromyelitis optica spectrum disorder or neurosyphilis.

    Science.gov (United States)

    Qin, Kaiyu; Wu, Wenqing; Huang, Yuming; Xu, Dongmei; Zhang, Lei; Zheng, Bowen; Jiang, Meijuan; Kou, Cheng; Gao, Junhua; Li, Wurong; Zhang, Jinglin; Wang, Sumei; Luan, Yanfei; Yan, Chaoling; Xu, Dan; Zheng, Xinmei

    2017-01-05

    Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a clinically heterogeneous disorder characterized by epileptic seizures, psychosis, dyskinesia, consciousness impairments, and autonomic instability. Symptoms are always various. Sometimes it presents in milder or incomplete forms. We report 4 cases of anti-NMDAR encephalitis with incomplete forms, 3 cases of which were accompanied by neuromyelitis optica spectrum disorder or neurosyphilis respectively. A 33-year-old man presented with dysarthria, movement disorder and occasional seizures. He had 6 relapses in 28 years. When suffered from upper respiratory tract syndrome, he developed behavioral and consciousness impairment. Cranial MRI was normal. Viral PCR studies and oncologic work-up were negative. Anti-NMDAR antibody was detected in CSF and serum. A 21-year-old female manifested dizziness and diplopia ten months and six months before, respectively. Both responded to steroid therapy and improved completely. This time she presented with progressive left limb and facial anesthesia, walking and holding unsteadily. Spinal cord MRI follow-up showed abnormality of medulla oblongata and cervical cord(C1). Anti-AQP4 and anti-NMDAR were positive in CSF. Steroid-pulse therapy ameliorated her symptoms. A 37-year-old male experienced worsening vision. He was confirmed neurosyphilis since the CSF tests for syphilis were positive. Protein was elevated and the oligoclonal IgG bands(OB) and anti-NMDAR was positive in CSF. Anti-aquaporin 4(AQP4) antibodies and NMO-IgG were negative. Cranial MRI showed high FLAIR signal on frontal lobe and low T2 signal adjacent to the right cornu posterious ventriculi lateralis. Treatment for neurosyphlis was commenced with gradual improvement. A 39-year-old male, developed serious behavioral and psychiatric symptoms. Examination showed abnormal pupils and unsteady gait. He was confirmed neurosyphilis according to the CSF tests for syphilis. Anti-NMDAR was positive in CSF and serum

  19. Quantitative Epstein-Barr virus (EBV) serology in lung transplant recipients with primary EBV infection and/or post-transplant lymphoproliferative disease

    NARCIS (Netherlands)

    Verschuuren, E; van der Bij, W; de Boer, W; Timens, W; Middeldorp, J; The, TH

    The Epstein-Barr virus (EBV)-specific antibody response was studied in lung transplant patients to assess their value in the diagnosis and prognosis of post-transplant lymphoproliferative disease. Recently developed synthetic peptides representing Epstein-Barr nuclear antigen-1 (EBNA-1), diffuse

  20. Quantitative Epstein-Barr virus (EBV) serology in lung transplant recipients with primary EBV infection and/or post-transplant lymphoproliferative disease.

    NARCIS (Netherlands)

    Verschuuren, E; van der Bij, W; Boer, W.; Timens, W.; Middeldorp, J.M.; The, T.H.

    2003-01-01

    The Epstein-Barr virus (EBV)-specific antibody response was studied in lung transplant patients to assess their value in the diagnosis and prognosis of post-transplant lymphoproliferative disease. Recently developed synthetic peptides representing Epstein-Barr nuclear antigen-1 (EBNA-1), diffuse

  1. Prevention of Epstein-Barr virus-lymphoproliferative disease by molecular monitoring and preemptive rituximab in high-risk patients after allogeneic stem cell transplantation

    NARCIS (Netherlands)

    J.W.J. van Esser (Joost); H.G.M. Niesters (Bert); B. van der Holt (Bronno); E. Meijer (Ellen); A.D.M.E. Osterhaus (Albert); J.W. Gratama (Jan-Willem); L.F. Verdonck (Leo); B. Löwenberg (Bob); J.J. Cornelissen (Jan)

    2002-01-01

    textabstractRecipients of a partially T-cell-depleted (TCD) allogeneic stem cell transplantation (allo-SCT) developing reactivation of Epstein-Barr virus (EBV) with quantified viral DNA levels exceeding 1000 genome equivalents/milliliter (geq/mL) are at high risk for EBV-lymphoproliferative disease

  2. Amelanotic melanoma presenting with plasmacytoid morphology and BRAF V600 mutation

    Directory of Open Access Journals (Sweden)

    Linda Kocovski

    2015-06-01

    Full Text Available Plasmacytoid melanoma is an unusual variant of malignant melanoma. The plasmacytoid morphology can be found in a variety of other malignancies including carcinomas, plasma cell neoplasms, lymphoproliferative disorders, and sarcomas. The authors report a rare case of plasmacytoid amelanotic malignant melanoma in a 78-year-old man presenting with an enlarging palpable, erythematous mass on his left posterior shoulder. A fine needle aspirate showed atypical findings with single amelanotic cells with high nuclear to cytoplasmic ratio, mono- and multi-nucleation with prominent nucleoli and intranuclear inclusions. Review of the excision and immunohistochemical analysis revealed the malignant plasmacytoid cells stained with vimentin, S-100, HMB-45, and other staining patterns consistent with melanoma. Initial evaluation was negative for other sites of disease. However, 4 months later, the patient was noted to have metastatic disease to his lungs and liver. Given that the tumor was noted to be BRAF V600R mutated, the patient was started on single agent dabrafenib. The plasmacytoid morphology can be found in a variety of malignancies. Melanoma should be considered in the differential diagnosis of any malignancy presenting with plasmacytoid features.

  3. The importance of assessing for validity of symptom report and performance in attention deficit/hyperactivity disorder (ADHD): Introduction to the special section on noncredible presentation in ADHD.

    Science.gov (United States)

    Suhr, Julie A; Berry, David T R

    2017-12-01

    Invalid self-report and invalid performance occur with high base rates in attention deficit/hyperactivity disorder (ADHD; Harrison, 2006; Musso & Gouvier, 2014). Although much research has focused on the development and validation of symptom validity tests (SVTs) and performance validity tests (PVTs) for psychiatric and neurological presentations, less attention has been given to the use of SVTs and PVTs in ADHD evaluation. This introduction to the special section describes a series of studies examining the use of SVTs and PVTs in adult ADHD evaluation. We present the series of studies in the context of prior research on noncredible presentation and call for future research using improved research methods and with a focus on assessment issues specific to ADHD evaluation. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  4. Potential involvement of Notch1 signalling in the pathogenesis of primary cutaneous CD30-positive lymphoproliferative disorders

    DEFF Research Database (Denmark)

    Kamstrup, M.R.; Ralfkiaer, E.; Skovgaard, G.L.

    2008-01-01

    Background The central role of Notch signalling in T-cell development and oncogenesis raises the question of the importance of this pathway in cutaneous T-cell lymphomas. Objectives To investigate the pattern of expression of Notch and its ligands, Jagged and Delta, in skin samples of primary...... obtained from three patients with LyP and two patients with primary cutaneous ALCL. Results We identified single Notch1-positive cells or small clusters of atypical cells in LyP. Similarly, strongly positive Jagged1 cells tended to be localized in clusters. Primary cutaneous ALCL had higher expression...... of Notch1 and Jagged1 compared with LyP. Cells expressing Notch1 and Jagged1 were colocalized and a subset of cells expressed both the receptor and the ligand. The expression of the ligand Delta1 was low to undetectable in both types of lymphoproliferations. A subpopulation of lymphoma cells was found...

  5. STUDY OF THE CLINICAL PROFILE AND AETIOLOGY OF VARIOUS DISORDERS OF SEX DEVELOPMENT PRESENTING TO ENDOCRINE OPD OF A TERTIARY CARE HOSPITAL

    Directory of Open Access Journals (Sweden)

    Ipsita Mishra

    2017-10-01

    Full Text Available BACKGROUND Disorders of Sex Development (DSD, formerly described as intersex conditions, are a conglomerate of rare disorders defined as discrepancy of chromosomal, gonadal or anatomic sex. There are limited data on the incidence of DSD with an overall incidence of 1:5,500, but varies with population. Congenital adrenal hyperplasia and mixed gonadal dysgenesis are the most common causes of ambiguous genitalia constituting approximately 50% of all cases presenting with genital ambiguity at birth. The aim of the study is to study the clinical profile and aetiology, mean age of presentation of common aetiologies, initial sex of rearing based on genital ambiguity and correctness of sex of rearing since birth as compared to genetic karyotype after diagnosis of patients of various disorders of sex development presenting to endocrine OPD of a tertiary care hospital. MATERIALS AND METHODS We assessed the records of patients who were evaluated for hypogonadism and genital ambiguity between March 2014 to June 2017 in our endocrine department. The patients were classified on the basis of clinical features, hormonal investigations, imaging studies, karyotype and laparoscopy/biopsy studies as indicated. Design- Cross-sectional study. RESULTS Distribution of DSD by category were 46, XY DSD (41.6%; 46, XX DSD (27.3%; SCD DSD (30.9%. Distribution of DSD by subtypes were 46, XY DSD; -5α reductase (37.1%; IHH (20.1%; Kallmann syndrome (14.28%; bilateral anorchia (11%; PAIS (8.5%; CAIS (2.8%; CAH (2.8%; 46, XX DSD-CAH (34.1%; IHH (21.7%; 46, XX OTD (13%; ACC (8.6%; classic CAH (4.3%; SCD DSD-KFS (53.8%; TS (38.4% and MGD (7.69%. Mean age of presentation of DSD; 5α reductase (7.5 yrs., PAIS (14.33 yrs., CAH (9.3 yrs., KFS (25 yrs. and TS (17 yrs.. CONCLUSION 46 XY DSD comprises 41.6% of cases of which 5α reductase deficiency is the most common aetiology. CAH was the main subtype of 46, XX DSD. KFS was the main subtype of SCD DSD. DSD pose a serious challenge not

  6. Recent advances in the risk factors, diagnosis and management of Epstein-Barr virus post-transplant lymphoproliferative disease.

    Science.gov (United States)

    Aguayo-Hiraldo, Paibel; Arasaratnam, Reuben; Rouce, Rayne H

    Fifty years after the first reports of Epstein-Barr virus (EBV)-associated endemic Burkitt's lymphoma, EBV has emerged as the third most prevalent oncogenic virus worldwide. EBV infection is associated with various malignancies including Hodgkin and non-Hodgkin lymphoma, NK/T-cell lymphoma and nasopharyngeal carcinoma. Despite the highly specific immunologic control in the immunocompetent host, EBV can cause severe complications in the immunocompromised host (namely, post-transplant lymphoproliferative disease). This is particularly a problem in patients with delayed immune reconstitution post-hematopoietic stem cell transplant or solid organ transplant. Despite advances in diagnostic techniques and treatment algorithms allowing earlier identification and treatment of patients at highest risk, mortality rates remain as high as 90% if not treated early. The cornerstones of treatment include reduction in immunosuppression and in vivo B cell depletion with an anti-CD20 monoclonal antibody. However, these treatment modalities are not always feasible due to graft rejection, emergence of graft vs. host disease, and toxicity. Newer treatment modalities include the use of adoptive T cell therapy, which has shown promising results in various EBV-related malignancies. In this article we will review recent advances in risk factors, diagnosis and management of EBV-associated malignancies, particularly post-transplant lymphoproliferative disease. We will also discuss new and innovative treatment options including adoptive T cell therapy as well as management of special situations such as chronic active EBV and EBV-associated hemophagocytic lymphohistiocytosis. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  7. Primary tacrolimus (FK506) therapy and the long-term risk of post-transplant lymphoproliferative disease in pediatric liver transplant recipients.

    Science.gov (United States)

    Cacciarelli, T V; Reyes, J; Jaffe, R; Mazariegos, G V; Jain, A; Fung, J J; Green, M

    2001-10-01

    While the overall incidence of post-transplant lymphoproliferative disease (PTLD) in pediatric liver transplant recipients has been reported to be 4-11%, the long-term risk of PTLD associated with primary tacrolimus therapy is unknown. Therefore, in order to determine the incidence and long-term risk of PTLD, the present study examined 131 pediatric recipients who underwent liver transplantation (LTx) between October 1989 and December 1991 and received primary tacrolimus therapy. This cohort of children was evaluated over an extended time-period (until December 31 1996) with a mean follow-up of 6.3 yr. Actuarial Kaplan-Meier analysis was utilized to determine the risk of PTLD over time. The overall incidence of PTLD was 13% (17/131) with an average age of 4.3 +/- 0.75 yr at diagnosis. Pretransplant Epstein-Barr virus (EBV) serologies were negative in 82%, positive in 12%, and not available in 6% of the patients. The median time to diagnosis of PTLD post-Tx was 11.9 months (mean 16.4 +/- 3.9, range 1.7-63.0 months). Mean tacrolimus dose and plasma trough level (as evaluated by enzyme-linked immunosorbent assay [ELISA]) at the time of diagnosis was 0.32 +/- 0.06 mg/kg/day and 1.3 +/- 0.3 ng/mL, respectively. The cumulative long-term risk of PTLD was found to increase over time: 3% at 6 months, 8% at 1 yr, 12% at 2 yr, 14% at 3 yr, and 15% at 4 and 5 yr. Mortality from PTLD was 12% (two of 17 patients). Primary tacrolimus use in pediatric LTx has a long-term risk of PTLD approaching 15%, with the majority of episodes (78%) occurring in the first 2 yr, suggesting that intense EBV surveillance should occur early post-transplantation.

  8. Pilot study of brain morphometry in a sample of Brazilian children with attention deficit hyperactivity disorder: influence of clinical presentation.

    Science.gov (United States)

    Pastura, Giuseppe; Kubo, Tadeu Takao Almodovar; Gasparetto, Emerson Leandro; Figueiredo, Otavio; Mattos, Paulo; Prüfer Araújo, Alexandra

    2017-12-01

    Currently, the diagnosis of attention deficit hyperactivity disorder (ADHD) rests on clinical criteria. Nonetheless, neuroimaging studies have demonstrated that children with ADHD have different cortical thickness and volume measures to typically developing children (TDC). In general, studies do not evaluate the influence of clinical presentation in the brain morphometry of ADHD children. Our objective was to perform a pilot study in order to evaluate cortical thickness and brain volume in a sample of Brazilian ADHD children and compare these to those of TDC, taking into account the influence of clinical presentation. We performed an analytic study comparing 17 drug-naïve ADHD children of both genders, aged between 7 and 10, and 16 TDC. ADHD subjects were first considered as one group and further separated based on clinical presentation. The brain volume did not differ between patients and TDC. Smaller cortical thicknesses were identified on the left superior, medium and inferior temporal cortex, as well as in the left inferior parietal cortex. When compared to TDC, combined and inattentive ADHD presentations depicted smaller cortical thickness with high significance and power. The same magnitude of results was not observed when comparing inattentive ADHD and TDC. In this pilot study, ADHD is associated with abnormalities involving the cortical thickness of the posterior attentional system. The cortical thickness in the left superior, medium and inferior temporal cortex, as well as in the left inferior parietal cortex may differ according to ADHD presentations.

  9. Clinical Presentation, Diagnosis and Treatment of Attention-Deficit Hyperactivity Disorder (ADHD) in Older Adults: A Review of the Evidence and its Implications for Clinical Care.

    Science.gov (United States)

    Goodman, David W; Mitchell, Sara; Rhodewalt, Lauren; Surman, Craig B H

    2016-01-01

    Although previously considered a disorder of childhood, studies in the last decade have demonstrated that attention-deficit hyperactivity disorder (ADHD) continues to impair function into adulthood and responds to pharmacotherapy. Due to age-specific changes in roles and challenges, it is possible that presentation and response to intervention may differ between older and younger adults. A literature search for papers that identified older adults with ADHD, including papers describing its epidemiology, manifestation, and treatment, was the basis for this paper. There is a paucity of data on ADHD in older adults; however, small observational studies have characterized the presence, impact, and treatment of ADHD in adults over the age of 50 years, and larger epidemiologic studies have demonstrated that ADHD symptoms exist in older adulthood. Optimal criteria for diagnosis of ADHD and methods of treating ADHD in older individuals have not been systematically explored. In light of the limited data, this review discusses considerations for differential diagnosis and safe pharmacotherapy of ADHD in older adults.

  10. The Prevalence of Oropharyngeal Dysphagia in Adults Presenting with Temporomandibular Disorders Associated with Rheumatoid Arthritis: A Systematic Review and Meta-analysis.

    Science.gov (United States)

    Gilheaney, Órla; Zgaga, Lina; Harpur, Isolde; Sheaf, Greg; Kiefer, Liss; Béchet, Sibylle; Walshe, Margaret

    2017-10-01

    Temporomandibular disorders (TMDs) are the most frequent non-dental orofacial pain disorders and may be associated with rheumatoid arthritis (RA), resulting in oropharyngeal dysphagia (OD). However, clinicians' understanding of involvement with OD caused by RA-related TMDs is limited and the methodological quality of research in this field has been criticised. Therefore, the aim of this study was to systematically review the prevalence of oral preparatory and oral stage signs and symptoms of OD in adults presenting with TMDs associated with RA. A systematic review of the literature was completed. The following electronic databases were searched from inception to February 2016, with no date/language restriction: EMBASE, PubMed, CINAHL, Web of Science, Elsevier Scopus, Science Direct, AMED, The Cochrane Database of Systematic Reviews, and ProQuest Dissertations and Theses A & I. Grey literature and reference lists of the included studies were also searched. Studies reporting the frequency of OD in adults presenting with TMD and RA were included. Study eligibility and quality were assessed by three independent reviewers. Methodological quality was assessed using the Down's and Black tool. The search yielded 19 eligible studies. Typical difficulties experienced by RA patients included impaired swallowing (24.63%), impaired masticatory ability (30.69%), masticatory pain (35.58%), and masticatory fatigue (21.26%). No eligible studies reported figures relating to the prevalence of weight loss. Eligible studies were deemed on average to be of moderate quality. Study limitations included the small number of studies which met the inclusion criteria and the limited amount of studies utilising objective assessments. Valid and reliable prospective research is urgently required to address the assessment and treatment of swallowing difficulties in RA as TMJ involvement may produce signs and symptoms of OD.

  11. The iron-binding protein lactotransferrin is present in pathologic lesions in a variety of neurodegenerative disorders: a comparative immunohistochemical analysis.

    Science.gov (United States)

    Leveugle, B; Spik, G; Perl, D P; Bouras, C; Fillit, H M; Hof, P R

    1994-07-04

    Lactotransferrin is a glycoprotein that specifically binds and transports iron. This protein is also believed to transport other metals such as aluminum. Several lines of evidence indicate that iron and aluminum are involved in the pathogenesis of many dementing diseases. In this context, the analysis of the iron-binding protein distribution in the brains of patients affected by neurodegenerative disorders is of particular interest. In the present study, the distribution of lactotransferrin was analyzed by immunohistochemistry in the cerebral cortex from patients presenting with Alzheimer's disease, Down syndrome, amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam, sporadic amyotrophic lateral sclerosis, or Pick's disease. The results show that lactotransferrin accumulates in the characteristic lesions of the different pathologic conditions investigated. For instance, in Alzheimer's disease and Guamanian cases, a subpopulation of neurofibrillary tangles was intensely labeled in the hippocampal formation and inferior temporal cortex. Senile plaques and Pick bodies were also consistently labeled. These staining patterns were comparable to those obtained with antibodies to the microtubule-associated protein tau and the amyloid beta A4 protein, although generally fewer neurofibrillary tangles were positive for lactotransferrin than for tau protein. Neuronal cytoplasmic staining with lactotransferrin antibodies, was observed in a subpopulation of pyramidal neurons in normal aging, and was more pronounced in Alzheimer's disease, Guamanian cases, Pick's disease, and particularly in Down syndrome. Lactotransferrin was also strongly associated with Betz cells and other motoneurons in the primary motor cortex of control, Alzheimer's disease, Down syndrome, Guamanian and Pick's disease cases. These same lactotransferrin-immunoreactive motoneurons were severely affected in the cases with amyotrophic lateral sclerosis. It is possible that in these

  12. First reported case of Lorazepam-assisted interview in a young Indian female presenting with dissociative identity disorder and improvement in symptoms after the interview.

    Science.gov (United States)

    Mushtaq, Raheel; Shoib, Sheikh; Arif, Tasleem; Shah, Tabindah; Mushtaq, Sahil

    2014-01-01

    Dissociative identity disorder (DID) is one of the most fascinating disorders in psychiatry. The arduous search to reveal the obscurity of this disorder has led to colossal research in this area over the years. Although drug-assisted interviews are not widely used, they may be beneficial for some patients that do not respond to conventional treatments such as supportive psychotherapy or psychopharmacotherapy. Drug-assisted interviews facilitate recall of memories in promoting integration of dissociative information. We report a case of a 16-year-old female with dissociative identity disorder (DID) that was treated with lorazepam-assisted interview and there was rapid improvement in symptoms after the interview.

  13. Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.

    Science.gov (United States)

    Woon, See-Tarn; Ameratunga, Rohan

    2016-01-01

    New Zealand is a developed geographically isolated country in the South Pacific with a population of 4.4 million. Genetic diagnosis is the standard of care for most patients with primary immunodeficiency disorders (PIDs). Since 2005, we have offered a comprehensive genetic testing service for PIDs and other immune-related disorders with a published sequence. Here we present results for this program, over the first decade, between 2005 and 2014. We undertook testing in 228 index cases and 32 carriers during this time. The three most common test requests were for X-linked lymphoproliferative (XLP), tumour necrosis factor receptor associated periodic syndrome (TRAPS) and haemophagocytic lymphohistiocytosis (HLH). Of the 32 suspected XLP cases, positive diagnoses were established in only 2 patients. In contrast, genetic defects in 8 of 11 patients with suspected X-linked agammaglobulinemia (XLA) were confirmed. Most XLA patients were initially identified from absence of B cells. Overall, positive diagnoses were made in about 23% of all tests requested. The diagnostic rate was lowest for several conditions with locus heterogeneity. Thorough clinical characterisation of patients can assist in prioritising which genes should be tested. The clinician-driven customised comprehensive genetic service has worked effectively for New Zealand. Next generation sequencing will play an increasing role in disorders with locus heterogeneity.

  14. Gender identity shows a high correlation with Prader score in patients with disorders of sex development (DSD) presenting in mid childhood.

    Science.gov (United States)

    Chowdhury, Tanvir K; Chowdhury, Md Zonaid; Mili, Fahmida; Hutson, John M; Banu, Tahmina

    2014-05-01

    In developing countries like Bangladesh, delayed presentation for disorders of sex development (DSD) is common, and provides some special problems for management. There remains significant controversy about appropriate sex assignment in this group. We aimed, therefore, to assess gender identity (GI) in 50 consecutive patients with DSD presenting to a referral centre in Chittagong, Bangladesh, and correlate it with Prader score, to see if the latter could be used to predict GI. A cross-sectional, case-control study of 50 consecutive children with DSD and 50 children with vascular anomalies was conducted in the Pediatric Surgical Clinic, Chittagong Medical College and Hospital. After informed consent, patients and controls provided oral answers to a GI questionnaire and had a detailed history and physical examination. Sex-typed activities were assessed by observations of a structured toy play and the child's selection of a toy to keep. Both patients and parents then completed the Child Game Participation Questionnaire. There were no differences in age (2-16 years, mean 8.74) between controls and DSD patients (11 46, XX DSD, 32 46, XY DSD, 4 MGD, 3 ovo-testicular DSD). Fifteen of the DSD patients (30 %) came from consanguineous marriages and only 2 of the control patients had consanguinity of their parents. For the 13-question GI interview, there was no overall difference between DSD cases and controls. For the 46, XX DSD subgroup, there was a significantly higher score (11.1 ± 7.1) compared with control girls (4.5 ± 4.7) (p gender-related behaviour correlated with Prader score for DSD patients (r = 0.61) (p gender-role behaviour should be assessed routinely in DSD patients presenting after the neonatal period, so that sex assignment is in accordance with behaviour. Prader scores showed a good correlation with GI and gender role behaviour.

  15. A case of recurrent depressive disorder presenting with Alice in Wonderland syndrome: psychopathology and pre- and post-treatment FDG-PET findings.

    Science.gov (United States)

    Yokoyama, Tatsushi; Okamura, Tsuyoshi; Takahashi, Miwako; Momose, Toshimitsu; Kondo, Shinsuke

    2017-04-27

    Alice in Wonderland syndrome (AIWS) is a rare neuropsychiatric syndrome that typically manifests in distortion of extrapersonal visual image, altered perception of one's body image, and a disturbed sense of the passage of distance and time. Several conditions have been reported to contribute to AIWS, although its biological basis is still unknown. Here, we present the first case demonstrating a clear concurrence of recurrent depressive disorder and AIWS. The clinical manifestations and pre- and post-treatment fluorodeoxyglucose positron-emission tomographic (FDG-PET) images provide insights into the psychopathological and biological basis of AIWS. We describe a 63-year-old Japanese male who developed two distinct episodes of major depression concurrent with AIWS. In addition to typical AIWS perceptual symptoms, he complained of losing the ability to intuitively grasp the seriousness of news and the value of money, which implies disturbance of high-order cognition related to estimating magnitude and worth. Both depression and AIWS remitted after treatment in each episode. Pre-treatment FDG-PET images showed significant hypometabolism in the frontal cortex and hypermetabolism in the occipital and parietal cortex. Post-treatment images showed improvement of these abnormalities. The clinical co-occurrence of depressive episodes and presentation of AIWS can be interpreted to mean that they have certain functional disturbances in common. In view of incapacity, indifference, devitalization, altered perception of one's body image, and disturbed sense of time and space, the features of AIWS analogous to those of psychotic depression imply a common psychopathological basis. These high-order brain dysfunctions are possibly associated with the metabolic abnormalities in visual and parietotemporal association cortices that we observed on the pre- and post-treatment FDG-PET images in this case, while the hypometabolism in the frontal cortex is probably associated with depressive

  16. Epstein-Barr virus associated T-cell lymphoproliferative disease misdiagnosed as ulcerative colitis: a case report.

    Science.gov (United States)

    Zheng, Xiaodan; Xie, Jianlan; Zhou, Xiaoge

    2015-01-01

    Epstein-Barr virus (EBV)-associated T-cell lymphoproliferative disease (LPD) is not uncommon in China, but gastrointestinal involvement is very rare. We report on an immunocompetent patient with EBV-associated T-cell LPD of the colon. The 26-year-old man was initially misdiagnosed with ulcerative colitis (UC). A colon biopsy revealed the presence of small to medium-sized lymphoid cells infiltrating the intestinal wall. The neoplastic cells expressed CD3, CD5, and granzyme B, not CD56. EBV-encoded small ribonucleic acid was detected in the tumor cells of the colon as well as the lymph node, and the T-cell receptor gene rearrangement result displayed δ gene monoclonal rearrangement. The patient died 2 moths after the diagnosis. The clinical course of EBV-associated T-cell LPD is aggressive and the prognosis is poor, the wrong diagnosis may delay treatment. Therefore, we should be very careful to prevent misdiagnosis. When patients have multiple intestinal ulcers that are not typical of UC and the clinical course is unusual, although morphology looks like inflammatory change, pathologist should consider the possibility of EBV-associated LPD. The treatment strategy and prognosis of these two diseases are different.

  17. Epstein-Barr virus load monitoring: its role in the prevention and management of post-transplant lymphoproliferative disease.

    Science.gov (United States)

    Rowe, D T; Webber, S; Schauer, E M; Reyes, J; Green, M

    2001-06-01

    The Epstein-Barr virus load in the peripheral blood at the time of diagnosis of post-transplant lymphoproliferative disease (PTLD) is elevated 1000- to 10,000-fold compared to the level detected in normal latency. With the use of quantitative polymerase chain reaction (PCR), changes in the viral load over time can be measured with a two- to fourfold accuracy. This has allowed early detection of first-time infections and reactivations that may lead to PTLD and has provided an opportunity to intervene before symptomatic disease has occurred. Viral load monitoring has also been used to follow patients with PTLD and, along with other parameters, provided an assessment of the effectiveness of therapeutic protocols. Viral load monitoring has led to the discovery that at least two-thirds of transplant recipients become persistent viral load carriers. While the persistent load appears to be largely carried in latently infected memory B cells, more work is needed to clearly define this type of persistent infection and determine the risks associated with it. New diagnostic tests need to be developed to distinguish the persistent latent viral loads from viral loads that are likely to become symptomatic PTLD.

  18. First Reported Case of Lorazepam-Assisted Interview in a Young Indian Female Presenting with Dissociative Identity Disorder and Improvement in Symptoms after the Interview

    Directory of Open Access Journals (Sweden)

    Raheel Mushtaq

    2014-01-01

    Full Text Available Dissociative identity disorder (DID is one of the most fascinating disorders in psychiatry. The arduous search to reveal the obscurity of this disorder has led to colossal research in this area over the years. Although drug-assisted interviews are not widely used, they may be beneficial for some patients that do not respond to conventional treatments such as supportive psychotherapy or psychopharmacotherapy. Drug-assisted interviews facilitate recall of memories in promoting integration of dissociative information. We report a case of a 16-year-old female with dissociative identity disorder (DID that was treated with lorazepam-assisted interview and there was rapid improvement in symptoms after the interview.

  19. The Center for Vein Restoration Study on presenting symptoms, treatment modalities, and outcomes in Medicare-eligible patients with chronic venous disorders.

    Science.gov (United States)

    Pappas, Peter J; Lakhanpal, Sanjiv; Nguyen, Khanh Q; Vanjara, Rohan

    2018-01-01

    Chronic venous disorders (CVDs) have been estimated to affect up to 20 million Americans. Despite this huge prevalence, the signs, symptoms, and treatment outcomes in patients 65 years of age and older are not well defined. Our goal was to determine the presentation and treatment outcomes in elderly patients compared with a cohort of patients younger than 65 years. From January 2015 to December 2016, we retrospectively reviewed prospectively collected data from 38,750 patients with CVD from the Center for Vein Restoration's electronic medical record (NextGen Healthcare Information Systems, Irvine, Calif). We divided patients into two groups; group A patients were younger than 65 years, and group B patients were 65 years of age or older. Medical and surgical history, presenting symptoms, treatment modalities, and revised Venous Clinical Severity Score before and after intervention were evaluated. A multivariate logistic regression analysis was performed to determine the predictive value of presenting and associated symptoms. Groups A and B were subdivided by Clinical, Etiology, Anatomy, and Pathophysiology class for subgroup analysis. Data were analyzed with GraphPad Prism (GraphPad Software Inc, La Jolla, Calif) or SAS version 9.4 statistical software package (SAS Institute, Cary, NC). There were 27,536 patients in group A and 11,214 in group B. Women constituted 78% of all patients. Group B demonstrated a higher incidence of chronic diseases compared with group A (P ≤ .003). As initial presenting symptoms, pain, heaviness, fatigue, and aching were more common in group A than in group B (61% vs 55%, 30% vs 27%, 27% vs 24%, and 17% vs 12%, respectively; P ≤ .001). Swelling, skin discoloration, and venous ulceration were more common in group B than in group A (29% vs 23%, 12% vs 6%, and 5% vs 2%; P ≤ .001). Ablations were more commonly performed in group B patients with C4 to C6 disease (P ≤ .004). The revised Venous Clinical Severity Scores before and 1

  20. Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders.

    Science.gov (United States)

    Salinas-Torres, Victor M; Salinas-Torres, Rafael A

    2016-06-01

    Otofaciocervical syndrome (OFCS) is a rare disorder characterized by facial, ear, branchial, and musculoskeletal anomalies, along with hearing loss and mild intellectual disability. Clinically, its distinction from branchiootorenal syndrome can be difficult. To date, the coexistence of OFCS and metachondromatosis has not been reported. Here, we describe a sporadic patient with both OFCS and metachondromatosis. This novel association prompts us to do some remarks on the clinical variability of branchial-arch disorders; in fact, our observations are consistent with the highly variable expressivity of OFCS and illustrate the need of a more accurate characterization of these branchial-arch disorders. In the meantime, involvement of clavicles, scapulae and shoulders remains a distinctive feature of OFCS. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  1. Childhood sarcoidosis: A rare but fascinating disorder

    Directory of Open Access Journals (Sweden)

    Gedalia Abraham

    2008-09-01

    Full Text Available Abstract Childhood sarcoidosis is a rare multisystemic granulomatous disorder of unknown etiology. In the pediatric series reported from the southeastern United States, sarcoidosis had a higher incidence among African Americans. Most reported childhood cases have occurred in patients aged 13–15 years. Macrophages bearing an increased expression of major histocompatibility class (MHC II molecules most likely initiate the inflammatory response of sarcoidosis by presenting an unidentified antigen to CD4+ Th (helper-inducer lymphocytes. A persistent, poorly degradable antigen driven cell-mediated immune response leads to a cytokine cascade, to granuloma formation, and eventually to fibrosis. Frequently observed immunologic features include depression of cutaneous delayed-type hypersensitivity and a heightened helper T cell type 1 (Th1 immune response at sites of disease. Circulating immune complexes, along with signs of B cell hyperactivity, may also be found. The clinical presentation can vary greatly depending upon the organs involved and age of the patient. Two distinct forms of sarcoidosis exist in children. Older children usually present with a multisystem disease similar to the adult manifestations, with frequent hilar lymphadenopathy and pulmonary infiltrations. Early-onset sarcoidosis is a unique form of the disease characterized by the triad of rash, uveitis, and arthritis in children presenting before four years of age. The diagnosis of sarcoidosis is confirmed by demonstrating a typical noncaseating granuloma on a biopsy specimen. Other granulmatous diseases should be reasonably excluded. The current therapy of choice for sarcoidosis in children with multisystem involvement is oral corticosteroids. Methotrexate given orally in low doses has been effective, safe and steroid sparing in some patients. Alternative immunosuppressive agents, such as azathioprine, cyclophosphamide, chlorambucil, and cyclosporine, have been tried in adult cases

  2. Epstein-Barr Virus-positive T-cell Lymphoproliferative Disease Following Umbilical Cord Blood Transplantation for Acute Myeloid Leukemia.

    Science.gov (United States)

    Yui, Shunsuke; Yamaguchi, Hiroki; Imadome, Ken-ichi; Arai, Ayako; Takahashi, Mikiko; Ohashi, Ryuji; Tamai, Hayato; Moriya, Keiichi; Nakayama, Kazutaka; Shimizu, Akira; Inokuchi, Koiti

    2016-01-01

    We report a case of the extremely rare condition Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease (LPD) which occurred after umbilical cord blood transplantation. A 25-year-old Japanese man underwent cord blood transplantation from a male human leukocyte antigen 4/6-matched donor due to acute myeloid leukemia with trisomy 8. Bone marrow examination on day 30 showed chimerism with at least 90% donor cells and complete hematological response. Chronic symptoms of graft-versus-host disease appeared only on the skin and were successfully treated with cyclosporine alone. Three years later, however, the patient experienced repeated cold-like symptoms and was hospitalized with liver dysfunction. A high fever developed and was followed by significant edema of the right side of the face. The EBV DNA copy number in whole peripheral blood was 2×10(4)/mL. Liver biopsy showed invasion of EBV-infected CD8-positive T cells. Southern blotting analysis of the whole peripheral blood showed that the T-cell receptor Cβ1 rearrangement was positive. On the basis of these results, EBV-positive T-cell LPD was diagnosed and treated with prednisolone, cyclosporine, and etoposide, followed by cyclophosphamide, doxorubicin, vincristine, and prednisone. However, the patient died of cardiac function failure, pneumonia, and pulmonary hemorrhage, all of unidentified cause. Most cases of EBV-related LPD after hematopoietic stem cell transplantation consist of EBV-positive B-cell LPD, and, to our knowledge, de novo EBV-positive T-cell LPD subsequent to transplantation has not been previously reported.

  3. P-glycoprotein is expressed and causes resistance to chemotherapy in EBV-positive T-cell lymphoproliferative diseases

    International Nuclear Information System (INIS)

    Yoshimori, Mayumi; Takada, Honami; Imadome, Ken-Ichi; Kurata, Morito; Yamamoto, Kouhei; Koyama, Takatoshi; Shimizu, Norio; Fujiwara, Shigeyoshi; Miura, Osamu; Arai, Ayako

    2015-01-01

    Epstein–Barr virus-positive T-cell lymphoproliferative diseases (EBV-T-LPDs) are rare lymphomas with poor prognosis. Although chemotherapeutic strategies such as CHOP have been often selected, they have exhibited only limited efficacy. To clarify the mechanism of chemoresistance, we examined P-glycoprotein (P-gp) expression. P-gp acts as an energy-dependent efflux pump that excretes drugs from the cytoplasm, resulting in low-intracellular drug concentrations and poor sensitivity to chemotherapy. We examined P-gp expression in EBV-positive cells by immunohistochemistry staining in three patients of EBV-T-LPDs and the expression was detected in all patients. We also examined mdr1 mRNA expression by reverse-transcriptase polymerase-chain reaction (RT-PCR) in EBV-positive tumor cells from these patients and additional three patients. The expression was detected in all examined patients. In five EBV-T-LPDs patients, P-gp function was detected by Rhodamine-123 efflux assay in these cells. The efflux was inhibited by treatment with a P-gp inhibitor, cyclosporine A (CsA). We also examined and detected P-gp expression in EBV-positive T-cell lines SNT8 and SNT16 established from EBV-T-LPDs patients, by RT-PCR and western blotting. The function was also detected by Rhodamine-123 efflux in these cell lines. Inhibition and knock down of P-gp by CsA and siRNA, respectively, enhanced etoposide- and doxorubicin-induced cell death in the EBV-positive T-cell lines. Finally, we infected the T-cell line MOLT4 with EBV, and found that mdr1 mRNA expression and Rhodamine 123 efflux were upregulated after infection. These results indicated that enhanced P-gp expression contributed to the chemoresistance of EBV-T-LPDs

  4. Prevalence of sleep breathing complaints reported by treatment-seeking chronic insomnia disorder patients on presentation to a sleep medical center: a preliminary report.

    Science.gov (United States)

    Krakow, Barry; Ulibarri, Victor A

    2013-03-01

    Few studies have examined the co-morbidity between insomnia and sleep-disordered breathing in the clinical setting. This study evaluated treatment-seeking insomnia patients and their self-report of sleep breathing complaints. A retrospective chart review was conducted on 1,035 consecutive treatment-seeking, chronic insomnia patients who reported insomnia as their primary problem upon seeking care at a private, community-based sleep medical center. Measurements included the insomnia severity index, standard subjective sleep measures as well as rankings, attributions, and self-reports about sleep breathing disorders, problems, and symptoms. A total of 1,035 adult, treatment-seeking insomnia patients indicated insomnia interfered with daytime functioning, and their average insomnia severity was in the range of a clinically relevant problem: total sleep time (5.50 h, SD = 1.60), sleep efficiency (71.05 %, SD = 18.26), wake time after sleep onset (120.70 min, SD = 92.56), and an insomnia severity index (18.81, SD = 5.09). Of these 1,035 insomnia patients, 42 % also ranked a sleep breathing disorder among their list of reasons for seeking treatment, another 13 % revealed a concern about a sleep breathing problem, and another 26 % reported awareness of sleep breathing symptoms. Only 19 % of this clinical insomnia sample reported no awareness or concerns about sleep breathing disorders, problems, or symptoms. A greater proportion of men than women reported significantly more sleep breathing disorders, problems, or symptoms. Sleep breathing complaints were extremely common among a large sample of treatment-seeking, self-identified, adult chronic insomnia patients. Prospective prevalence research is needed to corroborate or revise these findings, and polysomnography should be considered in appropriate cohorts to determine the clinical relevance of treatment-seeking chronic insomnia patients' sleep breathing complaints.

  5. Splenectomy in two children with autoimmune lymphoproliferative syndrome and massive splenomegaly

    DEFF Research Database (Denmark)

    Glerup, Mia; Thelle, Thomas; Grønbaek, Kirsten

    2009-01-01

    Treatment of patients with ALPS has varied but presently there is no consensus about the optimal therapy. Splenectomy is an option but data regarding the postsplenectomy outcome in pediatric ALPS patients remain very limited. We present two children who suffered from anemia and physical discomfort...

  6. Immunoglobulin heavy-chain fluorescence in situ hybridization-chromogenic in situ hybridization DNA probe split signal in the clonality assessment of lymphoproliferative processes on cytological samples.

    Science.gov (United States)

    Zeppa, Pio; Sosa Fernandez, Laura Virginia; Cozzolino, Immacolata; Ronga, Valentina; Genesio, Rita; Salatiello, Maria; Picardi, Marco; Malapelle, Umberto; Troncone, Giancarlo; Vigliar, Elena

    2012-12-25

    The human immunoglobulin heavy-chain (IGH) locus at chromosome 14q32 is frequently involved in different translocations of non-Hodgkin lymphoma (NHL), and the detection of any breakage involving the IGH locus should identify a B-cell NHL. The split-signal IGH fluorescence in situ hybridization-chromogenic in situ hybridization (FISH-CISH) DNA probe is a mixture of 2 fluorochrome-labeled DNAs: a green one that binds the telomeric segment and a red one that binds the centromeric segment, both on the IGH breakpoint. In the current study, the authors tested the capability of the IGH FISH-CISH DNA probe to detect IGH translocations and diagnose B-cell lymphoproliferative processes on cytological samples. Fifty cytological specimens from cases of lymphoproliferative processes were tested using the split-signal IGH FISH-CISH DNA probe and the results were compared with light-chain assessment by flow cytometry (FC), IGH status was tested by polymerase chain reaction (PCR), and clinicohistological data. The signal score produced comparable results on FISH and CISH analysis and detected 29 positive, 15 negative, and 6 inadequate cases; there were 29 true-positive cases (66%), 9 true-negative cases (20%), 6 false-negative cases (14%), and no false-positive cases (0%). Comparing the sensitivity of the IGH FISH-CISH DNA split probe with FC and PCR, the highest sensitivity was obtained by FC, followed by FISH-CISH and PCR. The split-signal IGH FISH-CISH DNA probe is effective in detecting any translocation involving the IGH locus. This probe can be used on different samples from different B-cell lymphoproliferative processes, although it is not useful for classifying specific entities. Cancer (Cancer Cytopathol) 2012;. © 2012 American Cancer Society. Copyright © 2012 American Cancer Society.

  7. Extranodal NK/T-cell lymphoma, nasal type (ENKTL-NT): An update on epidemiology, clinical presentation, and natural history in North American and European cases

    Science.gov (United States)

    Haverkos, Bradley M.; Pan, Zenggang; Gru, Alejandro A.; Freud, Aharon G.; Rabinovitch, Rachel; Xu-Welliver, Meng; Otto, Brad; Barrionuevo, Carlos; Baiocchi, Robert A.; Rochford, Rosemary; Porcu, Pierluigi

    2016-01-01

    Extranodal NK/T-cell lymphoma, nasal type (ENKTL-NT) is an aggressive extranodal non-Hodgkin lymphoma most commonly occurring in East Asia and Latin America but with increasing incidence in the U.S. Data on epidemiology, disease presentation, and outcome for European and North American (“Western”) cases are very limited. We review published landmark clinical studies on ENKTL-NT in the West and report in detail recent data, including our institutional experience. We highlight key observations in its epidemiology, natural history, and trends in clinical management. In the U.S., ENKTL-NT is more common among Asian Pacific Islanders (API) and Hispanics compared to non-Hispanic whites. Published studies indicate less heterogeneity in clinical presentation in Western ENKTL-NT compared to Asian patients. While there is variation in age at diagnosis, presence of antecedent lymphoproliferative disorders, and outcomes among racial/ethnic groups, the universal association of ENKTL-NT with EBV and the poor response of this neoplasm to anthracycline-based therapy are consistent across all geographic areas. PMID:27778143

  8. Present situation and advances in research of childhood tic disorders%儿童抽动障碍的研究现状与进展

    Institute of Scientific and Technical Information of China (English)

    刘智胜

    2009-01-01

    @@ 抽动障碍(tic disorders)是儿童常见的一种心理行为障碍,其临床症状从轻到重,复杂多变,不仅只表现为抽动,而且有多种心理行为问题,常导致自身心理困扰并影响患儿的日常生活和学习.

  9. Racial/Ethnic disparities in binge eating: disorder prevalence, symptom presentation, and help-seeking among Asian Americans and non-Latino Whites.

    Science.gov (United States)

    Lee-Winn, Angela; Mendelson, Tamar; Mojtabai, Ramin

    2014-07-01

    Asian Americans are more likely than non-Latino Whites to report binge eating, but are equally likely to meet binge eating disorder (BED) criteria. Using nationally representative data, we assessed whether differences in symptom reporting contributed to this disparity. Asian Americans were less likely than Whites to endorse BED symptoms related to distress or loss of control despite a higher prevalence of binge eating; they were also less likely to receive services for eating problems. Findings suggest cultural differences might lead to under-recognition of binge eating in Asian Americans.

  10. The impact of induced positive mood on symptomatic behaviour in eating disorders. An experimental, AB/BA crossover design testing a multimodal presentation during a test-meal.

    Science.gov (United States)

    Cardi, Valentina; Esposito, Mirko; Clarke, Ariana; Schifano, Sylvia; Treasure, Janet

    2015-04-01

    The aim of this study was to test the impact of a multimodal positive mood vodcast including pleasant images, background uplifting music and a script designed to elicit positive mood on eating disorders-related symptoms in participants suffering from an Eating Disorder (ED) and healthy controls (HCs). Forty-two women with an ED (Anorexia Nervosa [AN]: N = 19; Bulimia Nervosa [BN]: N = 23) and 36 HCs were included in an AB/BA cross-over design which compared the use of a positive mood induction procedure ("positive mood vodcast") with a control condition (i.e. blue static background, neutral music, and script describing objective facts) during a test-meal. Self-report measures and behavioural tasks were completed before and after the test-meal. The positive mood vodcast was associated with greater consumption of the test meal in the AN group; reduced vigilance to food stimuli and lower anxiety in the BN sample; and no significant changes in the HC group. The use of a positive mood vodcast was associated with some beneficial effects in the context of an experimental test-meal in participants with an ED. Copyright © 2014 Elsevier Ltd. All rights reserved.

  11. PTEN and PI-3 kinase inhibitors control LPS signaling and the lymphoproliferative response in the CD19+ B cell compartment

    International Nuclear Information System (INIS)

    Singh, Alok R.; Peirce, Susan K.; Joshi, Shweta; Durden, Donald L.

    2014-01-01

    kinase inhibitors reverse the lymphoproliferative phenotype in vivo. - Highlights: • First genetic evidence that PTEN controls LPS/TLR4 signaling in B lymphocytes. • Evidence that PTEN regulates LPS induced lymphoproliferation in vivo. • PI-3 kinase inhibitors block LPS induced lymphoproliferation in vivo

  12. PTEN and PI-3 kinase inhibitors control LPS signaling and the lymphoproliferative response in the CD19+ B cell compartment

    Energy Technology Data Exchange (ETDEWEB)

    Singh, Alok R. [UCSD Department of Pediatrics, Moores UCSD Cancer Center, University of California School of Medicine, San Diego, CA 92093 (United States); Peirce, Susan K. [Department of Pediatrics, Emory University School of Medicine, Atlanta, GA (United States); Joshi, Shweta [UCSD Department of Pediatrics, Moores UCSD Cancer Center, University of California School of Medicine, San Diego, CA 92093 (United States); Durden, Donald L., E-mail: ddurden@ucsd.edu [UCSD Department of Pediatrics, Moores UCSD Cancer Center, University of California School of Medicine, San Diego, CA 92093 (United States); Division of Pediatric Hematology-Oncology, UCSD Rady Children' s Hospital, La Jolla, CA (United States)

    2014-09-10

    -3 kinase inhibitors reverse the lymphoproliferative phenotype in vivo. - Highlights: • First genetic evidence that PTEN controls LPS/TLR4 signaling in B lymphocytes. • Evidence that PTEN regulates LPS induced lymphoproliferation in vivo. • PI-3 kinase inhibitors block LPS induced lymphoproliferation in vivo.

  13. Bipolar disorders

    DEFF Research Database (Denmark)

    Vieta, Eduard; Berk, Michael; Schulze, Thomas G

    2018-01-01

    Bipolar disorders are chronic and recurrent disorders that affect >1% of the global population. Bipolar disorders are leading causes of disability in young people as they can lead to cognitive and functional impairment and increased mortality, particularly from suicide and cardiovascular disease...... and accurate diagnosis is difficult in clinical practice as the onset of bipolar disorder is commonly characterized by nonspecific symptoms, mood lability or a depressive episode, which can be similar in presentation to unipolar depression. Moreover, patients and their families do not always understand...... a bipolar disorder from other conditions. Optimal early treatment of patients with evidence-based medication (typically mood stabilizers and antipsychotics) and psychosocial strategies is necessary....

  14. Epstein-Barr virus (EBV) reactivation is a frequent event after allogeneic stem cell transplantation (SCT) and quantitatively predicts EBV-lymphoproliferative disease following T-cell--depleted SCT

    NARCIS (Netherlands)

    van Esser, J W; van der Holt, B; Meijer, E; Niesters, H G; Trenschel, R; Thijsen, S F; van Loon, A M; Frassoni, F; Bacigalupo, A; Schaefer, U W; Osterhaus, A D; Gratama, J W; Löwenberg, B; Verdonck, L F; Cornelissen, J J

    2001-01-01

    Reactivation of the Epstein-Barr virus (EBV) after allogeneic stem cell transplantation (allo-SCT) may evoke a protective cellular immune response or may be complicated by the development of EBV-lymphoproliferative disease (EBV-LPD). So far, very little is known about the incidence, recurrence, and

  15. Autoimmune Lymphoproliferative Syndrome (ALPS)

    Science.gov (United States)

    ... Relations Cyber Infrastructure Computational Biology Equal Employment Opportunity Ethics Global Research Office of Mission Integration and Financial Management Strategic Planning Workforce Effectiveness Workplace Solutions Technology Transfer Intellectual Property Division of AIDS ...

  16. The role of antiviral and immunoglobulin therapy in the prevention of Epstein-Barr virus infection and post-transplant lymphoproliferative disease following solid organ transplantation.

    Science.gov (United States)

    Green, M; Reyes, J; Webber, S; Rowe, D

    2001-06-01

    The recognition of the importance of Epstein-Barr virus (EBV) infection, including EBV-associated post-transplant lymphoproliferative disease (PTLD), has led to a new focus on the prevention of this problem. This paper reviews the scientific rationale behind, and clinical experience with, the use of chemoprophylaxis (using acyclovir or ganciclovir) and immunoprophylaxis (using intravenous immunoglobulin) in the prevention of EBV/PTLD. While some centers have already introduced the use of one or both of these agents as standard prophylaxis against the development of this complication, published data in support of these protocols are currently lacking. Well designed clinical trials are necessary to evaluate the potential role of both antiviral and immunoglobulin agents in the prevention of EBV/PTLD in organ transplant recipients.

  17. Symptoms of body dysmorphic disorder among people presenting for cosmetic dental treatment: a comparative study of cosmetic dental patients and a general population sample

    NARCIS (Netherlands)

    de Jongh, A.; Aartman, I.H.A.; Parvaneh, H.; Ilik, M.

    2009-01-01

    Objectives:  To determine appearance concerns of patients presenting for cosmetic treatment. Methods:  This cross-sectional comparative study included consecutive patients of six different cosmetic clinics (n = 170), and a sample of the general population (n = 878). A study-specific self-report

  18. Primary intestinal hodgkin′s lymphoma: An uncommon presentation

    Directory of Open Access Journals (Sweden)

    Shruti Sharma

    2013-01-01

    Full Text Available Primary intestinal lymphoma is a rare lymphoproliferative neoplasm of the small intestine. The primary nature is established on the basis of lack of evidence of lymphoma on chest X-ray, computerized tomographic scan, peripheral blood or bone marrow puncture. Tumor involvement is limited to the gastrointestinal tract, the criteria for inclusion are that the symptoms related to the small intestine are predominant or the only symptoms at the time of laparotomy. Hodgkin′s lymphoma (HL primarily in the small intestine is a rare entity and an uncommon presentation of the disease. Ileum is the more common site of infliction than the jejunum because of its abundant lymphoid follicles. Here, we present a case of primary intestinal HL, in a 30-year-old male.

  19. Castleman s Disease with an Unusual Radiological Presentation: A Case Report

    Directory of Open Access Journals (Sweden)

    Nesrin Ocal

    2014-02-01

    Full Text Available Castleman%u2019s disease is a rare lymphoproliferative pathology which has two clinicoradiological forms; localized disease and disseminated disease. Histopathologically, Castleman%u2019s disease is evaluated in three groups; hyaline-vascular type, plasma cell type and mixed type. Patients are often asymptomatic and are diagnosed by radiological findings. The most common radiological presentation is huge lymph nodes in mediastinal area. Lymphadenopathy is most frequently observed in paratracheal lymph nodes. We wanted to emphasize this very rare entity and remind you this disease by the mean of a case with different radiological appearance.

  20. A retrospective chart review of the clinical and psychosocial profile of psychotic adolescents with co-morbid substance use disorders presenting to acute adolescent psychiatric services at Tygerberg Hospital

    Directory of Open Access Journals (Sweden)

    Anusha Lachman

    2012-05-01

    Full Text Available Background. A large number of adolescents meet criteria for ‘dual diagnosis’ (a psychiatric disorder plus co-morbid substance use disorder (SUD, which prolongs treatment response and complicates intervention strategies. The current service model in Cape Town divides the care of such patients into psychiatric treatment and a separate substance use intervention. Child and adolescent mental health services face the challenge of high rates of readmission of adolescents into psychiatric facilities before utilisation of community-based substance abuse services. Objective. There is a scarcity of available treatment guidelines for dual-diagnosis adolescents, and a lack of systematically documented epidemiological and clinical data in South African adolescent populations. Method. A retrospective chart review of adolescent psychiatric admissions to the Tygerberg Adolescent Psychiatric Unit during 2010 was conducted. Relevant epidemiological, clinical and demographic data for those presenting with a dual diagnosis (specifically psychotic disorders and SUD was recorded. Results. Results suggest a high prevalence of SUD among adolescents presenting with a first-episode psychosis. Statistically significant correlations with lower levels of education were found in those with ongoing substance abuse (specifically cannabis and methamphetamine, and a significant relationship between choice of debut drug and ongoing drug use was also demonstrated. Risk factors for SUD (psychosocial adversities, childhood trauma, family and community exposure to substances, early debut drug ages, risky sexual behaviours, and clinical psychiatric profiles of adolescents with dual diagnosis are described. Conclusions. This cohort had an enhanced risk as a result of genetic vulnerability and environmental availability of substances, and the findings emphasise the differences in presentation, choice of drugs of abuse and psychosocial difficulties of adolescents with a dual

  1. Delivery presentations

    Science.gov (United States)

    Pregnancy - delivery presentation; Labor - delivery presentation; Occiput posterior; Occiput anterior; Brow presentation ... The mother can walk, rock, and try different delivery positions during labor to help encourage the baby ...

  2. Persistent Epstein-Barr viral load in Epstein-Barr viral naïve pediatric heart transplant recipients: Risk of late-onset post-transplant lymphoproliferative disease.

    Science.gov (United States)

    Das, Bibhuti; Morrow, Robert; Huang, Rong; Fixler, David

    2016-12-24

    To examine the risk of late-onset post-transplant lymphoproliferative disorder (PTLD) in the presence of persisting high Epstein-Barr virus (EBV) in EBV naïve pediatric heart transplant (HT) recipients. A retrospective review of the medical records of the 145 pediatric HT recipients who had serial EBV viral load monitoring at our center was performed. We defined EBV naive patients whose EBV serology either IgM or IgG in the blood were negative at the time of HT and excluded passive transmission from mother to child in subjects less than 6 mo of age. PTLD was diagnosed in 8 out of 145 patients (5.5%); 6/91 (6.5%) in those who were EBV seropositive and 2/54 (3.7%) in the EBV naïve group at the time of HT ( P = 0.71). We found 32/145 (22%) patients with persistently high EBV load during continuing follow-up; 20/91 (22%) in EBV seropositive group vs 12/54 (22%) in EBV naïve group ( P = 0.97). There was no significant association between pre-HT serostatus and EBV load after transplant ( P > 0.05). In the EBV seropositive group, PTLD was diagnosed in 15% (3/20) of patients with high EBV vs 4.2% (3/71) of patients with low or undetectable EBV load ( P = 0.14) whereas in EBV naïve patients 8.3% (1/12) of those with high EBV load and 2.3% (1/42) with low or undetectable EBV load ( P = 0.41). There was a highly significant association between occurrence of PTLD in those with high EBV load and duration of follow up (4.3 ± 3.9 years) after HT by Cochran-Armitage test for the entire cohort ( P = 0.005). At least one episode of acute rejection occurred in 72% (23/32) of patients with high EBV vs 36% (41/113) patients with low or undetectable EBV after HT ( P < 0.05). There is an association between persistently high EBV load during post-HT follow up and the occurrence of late-onset PTLD in pediatric HT recipients irrespective of serostatus at the time of transplant. The occurrence of allograft rejection increased in patients with high EBV load presumably due to reduction in

  3. Lack of evidence for post-vaccine onset of autoimmune/lymphoproliferative disorders, during a nine-month follow-up in multiply vaccinated Italian military personnel.

    Science.gov (United States)

    Ferlito, Claudia; Barnaba, Vincenzo; Abrignani, Sergio; Bombaci, Mauro; Sette, Alessandro; Sidney, John; Biselli, Roberto; Tomao, Enrico; Cattaruzza, Maria Sofia; Germano, Valentina; Biondo, Michela Ileen; Salerno, Gerardo; Lulli, Patrizia; Caporuscio, Sara; Picchianti Diamanti, Andrea; Falco, Mirella; Biselli, Valentina; Cardelli, Patrizia; Autore, Alberto; Lucertini, Elena; De Cesare, Donato Pompeo; Peragallo, Mario Stefano; Lista, Florigio; Martire, Carmela; Salemi, Simonetta; Nisini, Roberto; D'Amelio, Raffaele

    2017-08-01

    Anecdotal case reports, amplified by mass media and internet-based opinion groups, have recently indicated vaccinations as possibly responsible for autoimmunity/lymphoproliferation development. Multiply vaccinated Italian military personnel (group 1, operating in Italy, group 2, operating in Lebanon) were followed-up for nine months to monitor possible post-vaccine autoimmunity/lymphoproliferation onset. No serious adverse event was noticed in both groups. Multivariate analysis of intergroup differences only showed a significant association between lymphocyte increase and tetanus/diphtheria vaccine administration. A significant post-vaccine decrease in autoantibody positivity was observed. Autoantibodies were also studied by microarray analysis of self-proteins in subjects exposed to ≥4 concurrent vaccinations, without observing significant difference among baseline and one and nine months post-vaccine. Moreover, HLA-A2 subjects have been analyzed for the possible CD8T-cell response to apoptotic self-epitopes, without observing significant difference between baseline and one month post-vaccine. Multiple vaccinations in young adults are safe and not associated to autoimmunity/lymphoproliferation onset during a nine-month-long follow-up. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Lecture Presentations

    International Nuclear Information System (INIS)

    2007-01-01

    The Heavy-Ion Collisions in the LHC workshop held in Cracow from 18 to 18 May 2007. The main subject of the workshop was to present the newest results of research provided at CERN LHC collider. Additionally some theoretical models and methods used for presented data analysis were discussed

  5. CATCHY PRESENTATIONS

    DEFF Research Database (Denmark)

    Eriksen, Kaare; Tollestrup, Christian; Ovesen, Nis

    2011-01-01

    An important competence for designers is the ability to communicate and present ideas and proposals for customers, partners, investors and colleagues. The Pecha Kucha principle, developed by Astrid Klein and Mark Dytham, has become a widely used and easy format for the presentation of new concepts...

  6. Extranodal NK/T Cell Lymphoma, Nasal Type (ENKTL-NT): An Update on Epidemiology, Clinical Presentation, and Natural History in North American and European Cases.

    Science.gov (United States)

    Haverkos, Bradley M; Pan, Zenggang; Gru, Alejandro A; Freud, Aharon G; Rabinovitch, Rachel; Xu-Welliver, Meng; Otto, Brad; Barrionuevo, Carlos; Baiocchi, Robert A; Rochford, Rosemary; Porcu, Pierluigi

    2016-12-01

    Extranodal NK/T cell lymphoma, nasal type (ENKTL-NT) is an aggressive extranodal non-Hodgkin lymphoma most commonly occurring in East Asia and Latin America but with increasing incidence in the United States. Data on epidemiology, disease presentation, and outcome for European and North American ("Western") cases are very limited. We review published landmark clinical studies on ENKTL-NT in the West and report in detail recent data, including our institutional experience. We highlight key observations in its epidemiology, natural history, and trends in clinical management. In the USA, ENKTL-NT is more common among Asian Pacific Islanders (API) and Hispanics compared to non-Hispanic whites. Published studies indicate less heterogeneity in clinical presentation in Western ENKTL-NT compared to Asian patients. While there is variation in age at diagnosis, presence of antecedent lymphoproliferative disorders, and outcomes among racial/ethnic groups, the universal association of ENKTL-NT with EBV and the poor response of this neoplasm to anthracycline-based therapy is consistent across all geographic areas. Data on epidemiology, disease presentation, and clinical outcomes in mature T cell and NK cell (T/NK cell) neoplasms, including ENKTL-NT, in Europe and North America are very limited. As the classification and diagnostic characterization of the currently recognized T/NK cell lymphoma disease entities continue to evolve, gaps and inconsistencies in data reporting across different studies are being recognized. Despite these limitations, several studies from the USA suggest that the incidence of ENKTL-NT is higher in Asian Pacific Islanders (API) and non-white Hispanics and that outcomes may be worse in non-whites. However, the universal association of ENKTL-NT with Epstein-Barr virus (EBV) across all ethnic groups suggests a common pathogenesis. Given the overlap between the entities included in the category of T/NK cell neoplasms, there is a need to further define

  7. Adult onset tic disorders

    OpenAIRE

    Chouinard, S.; Ford, B.

    2000-01-01

    BACKGROUND—Tic disorders presenting during adulthood have infrequently been described in the medical literature. Most reports depict adult onset secondary tic disorders caused by trauma, encephalitis, and other acquired conditions. Only rare reports describe idiopathic adult onset tic disorders, and most of these cases represent recurrent childhood tic disorders.
OBJECTIVE—To describe a large series of patients with tic disorders presenting during adulthood, to compare cl...

  8. Disordered eating practices in gastrointestinal disorders.

    Science.gov (United States)

    Satherley, R; Howard, R; Higgs, S

    2015-01-01

    To systematically review evidence concerning disordered eating practices in dietary-controlled gastrointestinal conditions. Three key questions were examined: a) are disordered eating practices a feature of GI disorders?; b) what abnormal eating practices are present in those with GI disorders?; and c) what factors are associated with the presence of disordered eating in those with GI disorders? By exploring these questions, we aim to develop a conceptual model of disordered eating development in GI disease. Five key databases, Web of Science with Conference Proceedings (1900-2014) and MEDLINE (1950-2014), PubMed, PsycINFO (1967-2014) and Google Scholar, were searched for papers relating to disordered eating practices in those with GI disorders. All papers were quality assessed before being included in the review. Nine papers were included in the review. The majority of papers reported that the prevalence of disordered eating behaviours is greater in populations with GI disorders than in populations of healthy controls. Disordered eating patterns in dietary-controlled GI disorders may be associated with both anxiety and GI symptoms. Evidence concerning the correlates of disordered eating was limited. The presence of disordered eating behaviours is greater in populations with GI disorders than in populations of healthy controls, but the direction of the relationship is not clear. Implications for further research are discussed. Copyright © 2014 Elsevier Ltd. All rights reserved.

  9. Workshop presentations

    International Nuclear Information System (INIS)

    Sanden, Per-Olof; Edland, Anne; Reiersen, Craig; Mullins, Peter; Ingemarsson, Karl-Fredrik; Bouchard, Andre; Watts, Germaine; Johnstone, John; Hollnagel, Erik; Ramberg, Patric; Reiman, Teemu

    2009-01-01

    An important part of the workshop was a series of invited presentations. The presentations were intended to both provide the participants with an understanding of various organisational approaches and activities as well as to stimulate the exchange of ideas during the small group discussion sessions. The presentation subjects ranged from current organisational regulations and licensee activities to new organisational research and the benefits of viewing organisations from a different perspective. There were more than a dozen invited presentations. The initial set of presentations gave the participants an overview of the background, structure, and aims of the workshop. This included a short presentation on the results from the regulatory responses to the pre-workshop survey. Representatives from four countries (Sweden, Canada, Finland, and the United Kingdom) expanded upon their survey responses with detailed presentations on both regulatory and licensee safety-related organisational activities in their countries. There were also presentations on new research concerning how to evaluate safety critical organisations and on a resilience engineering perspective to safety critical organisations. Below is the list of the presentations, the slides of which being available in Appendix 2: 1 - Workshop Welcome (Per-Olof Sanden); 2 - CSNI Working Group on Human and Organisational Factors (Craig Reiersen); 3 - Regulatory expectations on justification of suitability of licensee organisational structures, resources and competencies (Anne Edland); 4 - Justifying the suitability of licensee organisational structures, resources and competencies (Karl-Fredrik Ingemarsson); 5 - Nuclear Organisational Suitability in Canada (Andre Bouchard); 6 - Designing and Resourcing for Safety and Effectiveness (Germaine Watts); 7 - Organisational Suitability - What do you need and how do you know that you've got it? (Craig Reiersen); 8 - Suitability of Organisations - UK Regulator's View (Peter

  10. [The improvement of the abilities to maintain motor coordination and equilibrium in the students presenting with the functional disorders of the musculoskeletal system by introducing the elements of therapeutic physical training into the structure of academic schedule of physical education].

    Science.gov (United States)

    Kapilevich, L V; Davlet'yarova, K V; Ovchinnikova, N A

    The problem of deterioration of the health status in the university students at present remains as topical as it was before being a major cause of impaired working capacity, disability and/or poor social adaptation of the large number of graduates. It has been proposed to introduce a class of therapeutic physical training (TPT) into the schedule of physical education for the students. The objective of the present study was to evaluate the effectiveness of the formation of the skills needed to maintain motor coordination and equilibrium in the students presenting with the functional disorders of the musculoskeletal system (MSS) including scoliosis by the introduction of the elements of therapeutic physical training into their academic schedules. The main study group was comprised of 32 students (men) at the age of 18-19 years presenting with the disorders of the musculoskeletal system (type III scoliosis, osteochondropathy, and osteochondrosis). The students of this group received a curriculum aimed at improving their motor skills with the emphasis laid on the selected elements of therapeutic physical training. The control group was composed of 17 students without disorders of the musculoskeletal system who attended the physical education classes following the traditional program. The coordination abilities and balance skills were evaluated based on the analysis with the use of the Stabilan-1 stabilographic apparatus. In addition, the stability test and the Romberg test with open and closed eyes were performed. The results of the study give evidence that the introduction of the elements of therapeutic physical training into the structure of academic schedule of physical education for the students suffering from diseases of the musculoskeletal system has beneficial effect on the parameters of stability and the general ability to maintain the posture and balance. Specifically, in the beginning of the academic year, the students of the main study group presenting with

  11. CERN presentations

    CERN Multimedia

    CERN. Geneva

    2011-01-01

    Presentation by CERN (10 minutes each) Rolf Landua - Education and Outreach Salvatore Mele - Open Access Jean-Yves Le Meur - Digital Library in Africa Francois Fluckiger - Open Source/Standards (tbc) Tim Smith - Open Data for Science Tullio Basiglia - tbc

  12. Delivery presentations

    Science.gov (United States)

    ... has entered the pelvis. If the presenting part lies above the ischial spines, the station is reported ... M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health ...

  13. Information Presentation

    Science.gov (United States)

    Holden, K.L.; Boyer, J.L.; Sandor, A.; Thompson, S.G.; McCann, R.S.; Begault, D.R.; Adelstein, B.D.; Beutter, B.R.; Stone, L.S.

    2009-01-01

    The goal of the Information Presentation Directed Research Project (DRP) is to address design questions related to the presentation of information to the crew. The major areas of work, or subtasks, within this DRP are: 1) Displays, 2) Controls, 3) Electronic Procedures and Fault Management, and 4) Human Performance Modeling. This DRP is a collaborative effort between researchers at Johnson Space Center and Ames Research Center.

  14. Anxiety Disorders

    Science.gov (United States)

    ... Registry Residents & Medical Students Residents Medical Students Patients & Families Mental Health Disorders/Substance Use Find a Psychiatrist Addiction and Substance Use Disorders ADHD Anxiety Disorders Autism Spectrum Disorder Bipolar Disorders Depression Eating Disorders Obsessive-Compulsive ...

  15. Mental Disorders

    Science.gov (United States)

    Mental disorders include a wide range of problems, including Anxiety disorders, including panic disorder, obsessive-compulsive disorder, ... disorders, including schizophrenia There are many causes of mental disorders. Your genes and family history may play ...

  16. Voting Present

    Directory of Open Access Journals (Sweden)

    James Lo

    2013-12-01

    Full Text Available During his time as a state senator in Illinois, Barack Obama voted “Present” 129 times, a deliberate act of nonvoting that subsequently became an important campaign issue during the 2008 presidential elections. In this article, I examine the use of Present votes in the Illinois state senate. I find evidence that Present votes can largely be characterized as protest votes used as a legislative tool by the minority party. Incorporating information from Present votes into a Bayesian polytomous item-response model, I find that this information increases the efficiency of ideal point estimates by approximately 35%. There is little evidence of significant moderation by Obama when Present votes are accounted for, though my results suggest that Obama’s voting record may have moderated significantly before his subsequent election to the U.S. Senate. My results also suggest that because legislative nonvoting may occur for a variety of reasons, naive inclusion of nonvoting behavior into vote choice models may lead to biased results.

  17. Lecture Presentations

    International Nuclear Information System (INIS)

    2008-01-01

    The Symposium on Physics of Elementary Interactions in the LHC Era held in Warsaw from 21 to 22 April 2008. The main subject of the workshop was to present the progress in CERN LHC collider project. Additionally some satellite activities in field of education, knowledge and technology transfer in the frame of CERN - Poland cooperation were shown

  18. Presentation Technique

    International Nuclear Information System (INIS)

    Froejmark, M.

    1992-10-01

    The report presents a wide, easily understandable description of presentation technique and man-machine communication. General fundamentals for the man-machine interface are illustrated, and the factors that affect the interface are described. A model is presented for describing the operators work situation, based on three different levels in the operators behaviour. The operator reacts routinely in the face of simple, known problems, and reacts in accordance with predetermined plans in the face of more complex, recognizable problems. Deep fundamental knowledge is necessary for truly complex questions. Today's technical status and future development have been studied. In the future, the operator interface will be based on standard software. Functions such as zooming, integration of video pictures, and sound reproduction will become common. Video walls may be expected to come into use in situations in which several persons simultaneously need access to the same information. A summary of the fundamental rules for the design of good picture ergonomics and design requirements for control rooms are included in the report. In conclusion, the report describes a presentation technique within the Distribution Automation and Demand Side Management area and analyses the know-how requirements within Vattenfall. If different systems are integrated, such as geographical information systems and operation monitoring systems, strict demands are made on the expertise of the users for achieving a user-friendly technique which is matched to the needs of the human being. (3 figs.)

  19. Post transplant lymphoproliferative disease in pediatric solid organ transplant patients: A possible role for [{sup 18}F]-FDG-PET(/CT) in initial staging and therapy monitoring

    Energy Technology Data Exchange (ETDEWEB)

    Falck, C. von [Department of Diagnostic Radiology, Medizinische Hochschule Hannover (Medical School Hanover), Carl-Neuberg-Strasse 1, 30625 Hannover (Germany)], E-mail: Falck.Christian.von@mh-hannover.de; Maecker, B. [Department of Pediatric Hematology and Oncology, Medizinische Hochschule Hannover (Medical School Hanover), Carl-Neuberg-Strasse 1, 30625 Hannover (Germany); Schirg, E. [Department of Diagnostic Radiology, Medizinische Hochschule Hannover (Medical School Hanover), Carl-Neuberg-Strasse 1, 30625 Hannover (Germany); Boerner, A.R.; Knapp, W.H. [Department of Nuclear Medicine, Medizinische Hochschule Hannover (Medical School Hanover), Carl-Neuberg-Strasse 1, 30625 Hannover (Germany); Klein, C. [Department of Pediatric Hematology and Oncology, Medizinische Hochschule Hannover (Medical School Hanover), Carl-Neuberg-Strasse 1, 30625 Hannover (Germany); Galanski, M. [Department of Diagnostic Radiology, Medizinische Hochschule Hannover (Medical School Hanover), Carl-Neuberg-Strasse 1, 30625 Hannover (Germany)

    2007-09-15

    Post transplant lymphoproliferative disease (PTLD) is a severe complication after solid organ or bone marrow transplantation. In pediatric transplant recipients PTLD is the most common malignancy. The aim of this study was to evaluate a possible role for positron emission tomography with [{sup 18}F]-2-fluoro-2-desoxy-glucose (FDG) in the initial staging and in therapy monitoring of pediatric patients suffering from biopsy-proven CD20-positive PTLD after solid organ transplantation. Seven pediatric patients were included. All available imaging studies - CT (n = 15), MRI (n = 16) and PET/PETCT (n = 16) - were reviewed on a lesion by lesion base. The performance of FDG-PET in the initial staging and during therapy with a chimeric anti-CD20 antibody was compared to conventional cross sectional imaging and correlated with the clinical outcome. FDG-PET identified all sites of disease as shown by CT/MRI and helped to clarify the significance of equivocal findings. The initial stage of disease was correctly identified by FDG-PET alone when compared to CT/MRI. During therapy, FDG-PET was superior to conventional cross-sectional imaging in the early evaluation of response.

  20. The Role of Antiviral Prophylaxis for the Prevention of Epstein-Barr Virus-Associated Posttransplant Lymphoproliferative Disease in Solid Organ Transplant Recipients: A Systematic Review.

    Science.gov (United States)

    AlDabbagh, M A; Gitman, M R; Kumar, D; Humar, A; Rotstein, C; Husain, S

    2017-03-01

    The role of antiviral prophylaxis for the prevention of posttransplant lymphoproliferative disease (PTLD) remains controversial for solid organ transplantation (SOT) recipients who are seronegative for Epstein-Barr virus (EBV) but who received organs from seropositive donors. We performed a systematic review and meta-analysis to address this issue. Two independent assessors extracted data from studies after determining patient eligibility and completing quality assessments. Overall, 31 studies were identified and included in the quantitative synthesis. Nine studies were included in the direct comparisons (total 2366 participants), and 22 were included in the indirect analysis. There was no significant difference in the rate of EBV-associated PTLD in SOT recipients among those who received prophylaxis (acyclovir, valacyclovir, ganciclovir, valganciclovir) compared with those who did not receive prophylaxis (nine studies; risk ratio 0.95, 95% confidence interval 0.58-1.54). No significant differences were noted across all types of organ transplants, age groups, or antiviral use as prophylaxis or preemptive therapy. There was no significant heterogeneity in the effect of antiviral prophylaxis on the incidence of PTLD. In conclusion, the use of antiviral prophylaxis in high-risk EBV-naive patients has no effect on the incidence of PTLD in SOT recipients. © Copyright 2016 The American Society of Transplantation and the American Society of Transplant Surgeons.

  1. Mouse model of Epstein-Barr virus LMP1- and LMP2A-driven germinal center B-cell lymphoproliferative disease.

    Science.gov (United States)

    Minamitani, Takeharu; Ma, Yijie; Zhou, Hufeng; Kida, Hiroshi; Tsai, Chao-Yuan; Obana, Masanori; Okuzaki, Daisuke; Fujio, Yasushi; Kumanogoh, Atsushi; Zhao, Bo; Kikutani, Hitoshi; Kieff, Elliott; Gewurz, Benjamin E; Yasui, Teruhito

    2017-05-02

    Epstein-Barr virus (EBV) is a major cause of immunosuppression-related B-cell lymphomas and Hodgkin lymphoma (HL). In these malignancies, EBV latent membrane protein 1 (LMP1) and LMP2A provide infected B cells with surrogate CD40 and B-cell receptor growth and survival signals. To gain insights into their synergistic in vivo roles in germinal center (GC) B cells, from which most EBV-driven lymphomas arise, we generated a mouse model with conditional GC B-cell LMP1 and LMP2A coexpression. LMP1 and LMP2A had limited effects in immunocompetent mice. However, upon T- and NK-cell depletion, LMP1/2A caused massive plasmablast outgrowth, organ damage, and death. RNA-sequencing analyses identified EBV oncoprotein effects on GC B-cell target genes, including up-regulation of multiple proinflammatory chemokines and master regulators of plasma cell differentiation. LMP1/2A coexpression also up-regulated key HL markers, including CD30 and mixed hematopoietic lineage markers. Collectively, our results highlight synergistic EBV membrane oncoprotein effects on GC B cells and provide a model for studies of their roles in immunosuppression-related lymphoproliferative diseases.

  2. Interleukin-18, Interferon-γ, IP-10, and Mig Expression in Epstein-Barr Virus-Induced Infectious Mononucleosis and Posttransplant Lymphoproliferative Disease

    Science.gov (United States)

    Setsuda, Joyce; Teruya-Feldstein, Julie; Harris, Nancy L.; Ferry, Judith A.; Sorbara, Lynn; Gupta, Ghanshyam; Jaffe, Elaine S.; Tosato, Giovanna

    1999-01-01

    T cell immunodeficiency plays an important role in the pathogenesis of posttransplant lymphoproliferative disease (PTLD) by permitting the unbridled expansion of Epstein-Barr virus (EBV)-infected B lymphocytes. However, factors other than T cell function may contribute to PTLD pathogenesis because PTLD infrequently develops even in the context of severe T cell immunodeficiency, and athymic mice that are T-cell-immunodeficient can reject EBV-immortalized cells. Here we report that PTLD tissues express significantly lower levels of IL-18, interferon-γ (IFN-γ), Mig, and RANTES compared to lymphoid tissues diagnosed with acute EBV-induced infectious mononucleosis, as assessed by semiquantitative RT-PCR analysis. Other cytokines and chemokines are expressed at similar levels. Immunohistochemistry confirmed that PTLD tissues contain less IL-18 and Mig protein than tissues with infectious mononucleosis. IL-18, primarily a monocyte product, promotes the secretion of IFN-γ, which stimulates Mig and RANTES expression. Both IL-18 and Mig display antitumor activity in mice involving inhibition of angiogenesis. These results document greater expression of IL-18, IFN-γ, Mig, and RANTES in lymphoid tissues with acute EBV-induced infectious mononucleosis compared to tissues with PTLD and raise the possibility that these mediators participate in critical host responses to EBV infection. PMID:10393857

  3. Schizoaffective disorder

    Science.gov (United States)

    ... or do not improve with treatment Thoughts of suicide or of harming others Alternative Names Mood disorder - schizoaffective disorder; Psychosis - schizoaffective disorder Images Schizoaffective disorder ...

  4. Technical presentation

    CERN Document Server

    FI Department

    2008-01-01

    RADIOSPARES, the leading catalogue distributor of components (electronic, electrical, automation, etc.) and industrial supplies will be at CERN on Friday 3 October 2008 (Main Building, Room B, from 9.00 a.m. to 3.00 p.m.) to introduce its new 2008/2009 catalogue. This will be the opportunity for us to present our complete range of products in more detail: 400 000 part numbers available on our web site (Radiospares France, RS International, extended range of components from other manufacturers); our new services: quotations, search for products not included in the catalogue, SBP products (Small Batch Production: packaging in quantities adapted to customers’ requirements); partnership with our focus manufacturers; demonstration of the on-line purchasing tool implemented on our web site in conjunction with CERN. RADIOSPARES will be accompanied by representatives of FLUKE and TYCO ELECTRONICS, who will make presentations, demonstrate materials and answer any technical questio...

  5. Sleep Disorders in Childhood Neurogenetic Disorders

    Directory of Open Access Journals (Sweden)

    Laura Beth Mann Dosier

    2017-09-01

    Full Text Available Genetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as “rare disease,” but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic disorders including Down syndrome, Angelman syndrome, Prader–Willi syndrome, Smith–Magenis syndrome, congenital central hypoventilation syndrome, achondroplasia, mucopolysaccharidoses, and Duchenne muscular dystrophy. Each disorder is presented in the following format: overview, clinical characteristics, developmental aspects, associated sleep disorders, management and research/future directions.

  6. Neurocutaneous Disorders.

    Science.gov (United States)

    Rosser, Tena

    2018-02-01

    This article presents an up-to-date summary of the genetic etiology, diagnostic criteria, clinical features, and current management recommendations for the most common neurocutaneous disorders encountered in clinical adult and pediatric neurology practices. The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type 1, Legius syndrome, neurofibromatosis type 2, Noonan syndrome with multiple lentigines, tuberous sclerosis complex, Sturge-Weber syndrome, and incontinentia pigmenti. Neurologists require a basic knowledge of and familiarity with a wide variety of neurocutaneous disorders because of the frequent involvement of the central and peripheral nervous systems. A simple routine skin examination can often open a broad differential diagnosis and lead to improved patient care.

  7. Clinical picture and treatment of 2212 patients with common variable immunodeficiency

    NARCIS (Netherlands)

    Gathmann, Benjamin; Mahlaoui, Nizar; Gérard, Laurence; Oksenhendler, Eric; Warnatz, Klaus; Schulze, Ilka; Kindle, Gerhard; Kuijpers, Taco W.; van Beem, Rachel T.; Guzman, David; Workman, Sarita; Soler-Palacín, Pere; de Gracia, Javier; Witte, Torsten; Schmidt, Reinhold E.; Litzman, Jiri; Hlavackova, Eva; Thon, Vojtech; Borte, Michael; Borte, Stephan; Kumararatne, Dinakantha; Feighery, Conleth; Longhurst, Hilary; Helbert, Matthew; Szaflarska, Anna; Sediva, Anna; Belohradsky, Bernd H.; Jones, Alison; Baumann, Ulrich; Meyts, Isabelle; Kutukculer, Necil; Wågström, Per; Galal, Nermeen Mouftah; Roesler, Joachim; Farmaki, Evangelia; Zinovieva, Natalia; Ciznar, Peter; Papadopoulou-Alataki, Efimia; Bienemann, Kirsten; Velbri, Sirje; Panahloo, Zoya; Grimbacher, Bodo; de Vergnes, Nathalie; Costes, Laurence; Andriamanga, Chantal; Courteille, Virginie; Brosselin, Pauline; Korganow, Anne-Sophie; Lutz, Patrick; ten Berge, R. J. M.

    2014-01-01

    Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distribution and a high variability in clinical presentation. The main features include respiratory tract infections and their associated complications, enteropathy, autoimmunity, and lymphoproliferative disorders.

  8. Technical presentation

    CERN Document Server

    FP Department

    2009-01-01

    07 April 2009 Technical presentation by Leuze Electronics: 14.00 – 15.00, Main Building, Room 61-1-017 (Room A) Photoelectric sensors, data identification and transmission systems, image processing systems. We at Leuze Electronics are "the sensor people": we have been specialising in optoelectronic sensors and safety technology for accident prevention for over 40 years. Our dedicated staff are all highly customer oriented. Customers of Leuze Electronics can always rely on one thing – on us! •\tFounded in 1963 •\t740 employees •\t115 MEUR turnover •\t20 subsidiaries •\t3 production facilities in southern Germany Product groups: •\tPhotoelectric sensors •\tIdentification and measurements •\tSafety devices

  9. Eating disorder symptoms in affective disorder.

    OpenAIRE

    Wold, P N

    1991-01-01

    Patients with Major Affective Disorder (MAD), Secondary Depression, Panic Disorder, and bulimia with and without MAD, were given the Eating Disorder Inventory, the Beck Depression Inventory, and the General Behavior Inventory at presentation. It was found that patients with MAD have a triad of eating disorder symptoms: a disturbance in interoceptive awareness, the sense of ineffectiveness, and a tendency toward bulimia. The data supported the concept that the sense of ineffectiveness is secon...

  10. Sarcoidosis and multiple myeloma: Concurrent presentation of an unusual association

    Directory of Open Access Journals (Sweden)

    Vidya Nair

    2016-01-01

    Full Text Available Literature on concurrent association of sarcoidosis with lymphoproliferative malignancies other than lymphoma e.g. multiple myeloma is meager. The rarity of the situation prompted us to report this patient who was a 51-year-old woman with a 2-years history of breathlessness, cough with expectoration, chest pain and backache. Initial evaluation revealed mild anemia, increased alkaline phosphatase with chest skiagram showing both lower zone non homogenous opacities with calcified hilar lymph nodes. CECT chest showed mediastinal with bilateral hilar lymphadenopathy, parenchymal fibrosis, traction bronchiectasis, ground glass opacities, septal and peribronchovascular thickening affecting mid and lower lung zones bilaterally. MRI Dorsolumbar spine was suggestive of marrow infiltrative disorder. EBUS FNA of intrathoracic nodes, EBB and TBLB confirmed sarcoidosis. PET CT revealed hyper metabolic activity in lung, multiple lymph nodes and lytic bone lesions. Serum protein electrophoresis and immunofixation revealed a monoclonal paraprotein, immunoglobulin IgG kappa type. Bone marrow biopsy revealed an increase in plasma cells (15%, but no granulomas. Diagnosis of Indolent or multiple myeloma with sarcoidosis was established. 12 cases of sarcoidosis and multiple myeloma have been reported in literature, and mostly preceding the onset of multiple myeloma by many years, in our case both were diagnosed concurrently.

  11. What Are Reading Disorders?

    Science.gov (United States)

    ... and language-based learning disabilities are commonly called dyslexia . These disorders are present from a young age ... information about these problems. Types of Reading Disorders Dyslexia is a brain-based type of learning disability ...

  12. Clinicopathological categorization of Epstein-Barr virus-positive T/NK-cell lymphoproliferative disease: an analysis of 42 cases with an emphasis on prognostic implications.

    Science.gov (United States)

    Paik, Jin Ho; Choe, Ji-Young; Kim, Hyojin; Lee, Jeong-Ok; Kang, Hyoung Jin; Shin, Hee Young; Lee, Dong Soon; Heo, Dae Seog; Kim, Chul-Woo; Cho, Kwang-Hyun; Kim, Tae Min; Jeon, Yoon Kyung

    2017-01-01

    Epstein-Barr virus-positive T/NK-cell lymphoproliferative diseases (EBV-T/NK-LPDs) include several overlapping EBV-related conditions with variably aggressive courses. For prognostic categorization, we retrospectively analyzed 42 EBV-T/NK-LPD cases. Male (79% [33/42]), young (≤40 years; 83% [35/42]) patients and T-cell lineage (81% [34/42]; CD8/CD4 = 1.8) were predominant. Clinicopathologically, three systemic and one cutaneous category were developed: hemophagocytic lymphohistiocytosis (HLH; 26% [11/42]), chronic active EBV infection (CAEBV; 31% [13/42]), systemic unclassifiable disease (24% [10/42]), and hydroa vacciniforme/hydroa vacciniforme-like lymphoma (HV/HVL; 19% [8/42]). Prognostically, cutaneous disease (HV/HVL) was better than systemic disease (p = 0.014; median, 285 vs. 10 months). In systemic diseases, HLH was worst (p = 0.002; 3[HLH] vs. 4[unclassifiable] vs. not reached [CAEBV]). Univariate survival analysis (n = 42) revealed cytopenia (≥one lineage; p 40 years; p = 0.001), T-cell lineage (p = 0.041), hemophagocytic histiocytes (p = 0.031), elevated lactate dehydrogenase (p = 0.020), and liver dysfunction (p = 0.023) predicted shorter survival. In multivariate analysis, T-cell lineage (p = 0.025 [HR =11.3]) and cytopenia (p = 0.028 [HR =5.4]) were independent prognostic factors. Therefore, EBV-T/NK-LPD could be classified into four prognostic categories.

  13. Construction of a YAC contig and STS map spanning 2.5 Mbp in Xq25, the critical region for the X-linked lymphoproliferative (XLP) gene

    Energy Technology Data Exchange (ETDEWEB)

    Lanyi, A.; Li, B.F.; Li, S. [Univ. of Nebraska Medical Center, Omaha, NE (United States)] [and others

    1994-09-01

    X-linked lymphoproliferative disease (XLP) is characterized by a marked vulnerability in Epstein-Barr virus (EBV) infection. Infection of XLP patients with EBV invariably results in fatal mononucleosis, agammaglobulinemia or B-cell lymphoma. The XLP gene lies within a 10 cM region in Xq25 between DXS42 and DXS10. Initial chromosome studies revealed an interstitial, cytogenetically visible deletion in Xq25 in one XLP family (43-004). We estimated the size of the Xq25 deletion by dual laser flow karyotyping to involve 2% of the X chromosome, or approximately 3 Mbp of DNA sequences. To further delineate the deletion we performed a series of pulsed field gel electrophoresis (PFGE) analyses which showed that DXS6 and DXS100, two Xq25-specific markers, are missing from 45-004 DNA. Five yeast artificial chromosomes (YACs) from a chromosome X specific YAC library containing sequences deleted in patient`s 43-004 DNA were isolated. These five YACs did not overlap, and their end fragments were used to screen the CEPH MegaYAC library. Seven YACs were isolated from the CEPH MegaYAC library. They could be arranged into a contig which spans between DXS6 and DXS100. The contig contains a minimum of 2.5 Mbp of human DNA. A total of 12 YAC end clone, lambda subclones and STS probes have been used to order clones within the contig. These reagents were also used in Southern blot and patients showed interstitial deletions in Xq25. The size of these deletions range between 0.5 and 2.5 Mbp. The shortest deletion probably represents the critical region for the XLP gene.

  14. Pediatric epilepsy and comorbid reading disorders, math disorders, or autism spectrum disorders: Impact of epilepsy on cognitive patterns

    NARCIS (Netherlands)

    van Iterson, L.; de Jong, P.F.; Zijlstra, B.J.H.

    2015-01-01

    Introduction: In pediatric epilepsy, comorbidities are reported to be frequent. The present study focusedon the cognitive patterns of children with isolated epilepsy, children with isolated neurodevelopmental disorders (reading disorders, math disorders, autism spectrum disorders), and children with

  15. Anxiety disorders: Psychiatric comorbidities and psychosocial ...

    African Journals Online (AJOL)

    2018-05-24

    May 24, 2018 ... psychiatric disorders, including other anxiety disorders, mood disorders, substance use disorders ... psychiatric comorbidities present among adults at a tertiary ..... clinical files as well as unclear handwriting and missing.

  16. Conduct disorders as a result of specific learning disorders

    OpenAIRE

    VOKROJOVÁ, Nela

    2012-01-01

    This thesis focuses on relationship between specific learning disorders and conduct disorders in puberty. The theoretical part explains the basic terms apearing in the thesis such as specific learning disorders, conduct disorders, puberty and prevention of conduct disorder formation. It presents Czech and foreign research which have already been done in this and related areas. The empirical part uses a quantitative method to measure anxiety and occurrence of conduct disorders in second grade ...

  17. The challenges in diagnosis and gender assignment in disorders of sex development presenting to a pediatric surgical unit in a developing country: the role of laparoscopy and simple tests for gender identity.

    Science.gov (United States)

    Chowdhury, Tanvir K; Kabir, Mahfuzul; Chowdhury, Md Zonaid; Hutson, John M; Banu, Tahmina

    2014-12-01

    We aimed to assess how the diagnosis and determination of gender identity of disorders of sex development (DSD) is different in a developing country from Western medicine, and whether a pediatric surgery department can determine the underlying diagnosis and use simple tools to determine the likely gender identity (GI). We reviewed the records of DSD patients admitted to the Department of Pediatric Surgery, Chittagong Medical College & Hospital (CMCH), Chittagong, Bangladesh, from January 2006 to December 2012 and performed a cross-sectional study on GI and gender-related behavior in these patients during the year 2012. DSD boys and girls answered a GI interview and had their gender role behavior assessed by observations of structural toy play and analyzed for differences in scores. This cohort of DSD patients presented in mid-childhood (6 months-16 years, mean 6.9 years) rather than infancy, and 30% came from consanguineous unions. Congenital adrenal hyperplasia (CAH) constituted only 11 of 50 (22%) of the DSD cohort, and not all families had access to steroid hormone replacement. A simple assessment of GI and gender-related behavior allowed effective gender assignment, as there was significant difference between DSD boys and girls in GI and gender-related behavior score. DSD management in Bangladesh provides some unique challenges because of limited resources. A national reference laboratory for biochemical and genetic testing and development of a quaternary referral center for DSD patients will be helpful. Continued use of the GI interview and gender-related behavior study will enable effective interim decisions about diagnosis and management. Copyright © 2014 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

  18. Reproductive Disorders in Snakes.

    Science.gov (United States)

    Di Girolamo, Nicola; Selleri, Paolo

    2017-05-01

    Reproduction of snakes is one of the challenging aspects of herpetology medicine. Due to the complexity of reproduction, several disorders may present before, during, or after this process. This article describes the physical examination, and radiographic, ultrasonographic, and endoscopic findings associated with reproductive disorders in snakes. Surgical techniques used to resolve reproductive disorders in snakes are described. Finally, common reproductive disorders in snakes are individually discussed. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. Generalised anxiety disorder

    OpenAIRE

    Gale, Christopher K; Millichamp, Jane

    2011-01-01

    Generalised anxiety disorder is characterised by persistent, excessive and difficult-to-control worry, which may be accompanied by several psychic and somatic symptoms, including suicidality. Generalized anxiety disorder is the most common psychiatric disorder in the primary care, although it is often underrecognised and undertreated. Generalized anxiety disorder is typically a chronic condition with low short- and medium-term remission rates. Clinical presentations often include depression, ...

  20. RISK FACTORS FOR AND SPATIAL DISTRIBUTION OF LYMPHOPROLIFERATIVE DISEASE VIRUS (LPDV) IN WILD TURKEYS (MELEAGRIS GALLOPAVO) IN NEW YORK STATE, USA.

    Science.gov (United States)

    Alger, Katrina; Bunting, Elizabeth; Schuler, Krysten; Whipps, Christopher M

    2017-07-01

    Lymphoproliferative disease virus (LPDV) is an oncogenic avian retrovirus that was previously thought to exclusively infect domestic turkeys but was recently shown to be widespread in Wild Turkeys ( Meleagris gallopavo ) throughout most of the eastern US. In commercial flocks, the virus spreads between birds housed in close quarters, but there is little information about potential risk factors for infection in wild birds. Initial studies focused on distribution of LPDV nationally, but investigation of state-level data is necessary to assess potential predictors of infection and detect patterns in disease prevalence and distribution. We tested wild turkey bone marrow samples (n=2,538) obtained from hunter-harvested birds in New York State from 2012 to 2014 for LPDV infection. Statewide prevalence for those 3 yr was 55% with a 95% confidence interval (CI) of 53-57%. We evaluated a suite of demographic, anthropogenic, and land cover characteristics with logistic regression to identify potential predictors for infection based on odds ratio (OR). Age (OR=0.16, 95% CI=0.13-0.19) and sex (OR=1.3, 95% CI=1.03-1.24) were strong predictors of LPDV infection, with juveniles less likely to test positive than adults, and females more likely to test positive than males. The number of birds released during the state's 40-yr translocation program (OR=0.993, 95% CI=0.990-0.997) and the ratio of agriculture to forest cover (OR=1.13, 95% CI=1.03-1.19) were also predictive of LPDV infection. Prevalence distribution was analyzed using dual kernel density smoothing to produce a risk surface map, combined with Kulldorff's spatial scan statistic and the Anselin Local Moran's I to identify statistically significant geographic clusters of high or low prevalence. These methods revealed the prevalence of LPDV was high (>50%) throughout New York State, with regions of variation and several significant clusters. We revealed new information about the risk factors and distribution of LPDV in New

  1. Frequency of a FAS ligand gene variant associated with inherited feline autoimmune lymphoproliferative syndrome in British shorthair cats in New Zealand.

    Science.gov (United States)

    Aberdein, D; Munday, J S; Dittmer, K E; Heathcott, R W; Lyons, L A

    2017-11-01

    AIMS To determine the frequency of the FAS-ligand gene (FASLG) variant associated with feline autoimmune lymphoproliferative syndrome (FALPS) and the proportion of carriers of the variant in three British shorthair (BSH) breeding catteries in New Zealand. METHODS Buccal swabs were collected from all cats in two BSH breeding catteries from the South Island and one from the North Island of New Zealand. DNA was extracted and was tested for the presence of the FASLG variant using PCR. Cats with the FASLG variant were identified and the frequency of the FASLG variant allele calculated. Pedigree analysis was performed and inbreeding coefficients were calculated for cats with the FASLG variant. RESULTS Of 32 BSH cats successfully tested for the presence of the FASLG variant, one kitten (3%) was homozygous (FALPS-affected), and seven (22%) cats were heterozygous (carriers) for the FASLG variant allele, and 24 (75%) cats were homozygous for the wild type allele. The overall frequency of the FASLG variant allele in these 32 cats was 0.14. Cats carrying the FASLG variant were from all three breeding catteries sampled, including two catteries that had not previously reported cases of FALPS. Pedigree analysis revealed common ancestry of FALPS-affected and carrier cats within six generations, as well as frequent inbreeding, with inbreeding coefficients >0.12 for five cats with the FASLG variant. CONCLUSIONS AND CLINICAL RELEVANCE There was a high frequency of the FASLG variant allele (0.14) in this small sample of BSH cats, with 22% of healthy cats identified as carriers of the FASLG variant. For an inherited disease, lethal at a young age, in a small population in which inbreeding is common, these results are significant. To prevent future cases of disease and stop further spread of the FASLG variant allele within the BSH population in New Zealand, it is recommended that all BSH and BSH-cross cats be tested for the presence of the FASLG variant before mating. Cats identified as

  2. Multiphasic presentation of Rasmussen's encephalitis

    NARCIS (Netherlands)

    Avbersek, A.; Miserocchi, A.; McEvoy, A.W.; Patel, A.V.; Aronica, E.; Blumcke, I.; Jacques, T.S.; Acheson, J.; Thom, M.; Sisodiya, S.M.

    2015-01-01

    Rasmussen's encephalitis is a rare, chronic inflammatory disorder of unknown cause, characterised by drug-resistant focal epilepsy that may rarely present in adolescence or adulthood. We present a case of Rasmussen's encephalitis with prominent recurrent fluctuation in symptoms and well-documented

  3. Neuroimaging of neurotic disorders

    International Nuclear Information System (INIS)

    Okubo, Yoshiro; Yahata, Noriaki

    2006-01-01

    Neuroimaging has been involved in recent biological approaches with evidence for neurotic disorders in place of diagnostic criteria on Freud theory hitherto. This review describes the present states of brain imaging in those disorders. Emotion has such three bases for environmental stimuli as recognition/evaluation of causable factors, manifestation, and its control, each of which occurs in various different regions connected by neuro-net work in the brain. The disorders are regarded as abnormality of the circuit that can be imaged. Documented and discussed are the actual regions imaged by MRI and PET in panic disorder, social phobia, phobias to specified things, posttraumatic stress disorder and obsessive-compulsive disorder. The approach is thought important for elucidating not only the pathogenesis of the disorders but also the human emotional functions and mechanism of the mind, which may lead to a better treatment of the disorders in future. (T.I)

  4. Movement disorders

    International Nuclear Information System (INIS)

    Leenders, K.L.

    1986-01-01

    This thesis describes the measurement of brain-tissue functions in patients with movement disorders using positron emission tomography (PET). This scanning technique is a method for direct in vivo quantitation of the regional tissue content of positron emitting radionuclides in brain (or other organs) in an essentially non-invasive way. Ch. 2 outlines some general features of PET and describes the scanner which has been used for the studies in this thesis. Also the tracer methodology, as applied to data investigations of movement disorders, are discussed. Ch. 3 contains the results of the PET investigations which were performed in the study of movement disorders. The results are presented in the form of 12 papers. The main goals of these studies were the understanding of the pathophysiology of Parkinson's disease, Huntington's chorea, Steele-Richardson-Olzewski syndrome and special case reports. Ch. 4 summarizes the results of these publications and Ch. 5 concludes the main part of this thesis with a general discussion of movement disorders in relation to PET investigations. 697 refs.; 60 figs.; 31 tabs

  5. Paraneoplastic autoimmune movement disorders.

    Science.gov (United States)

    Lim, Thien Thien

    2017-11-01

    To provide an overview of paraneoplastic autoimmune disorders presenting with various movement disorders. The spectrum of paraneoplastic autoimmune disorders has been expanding with the discovery of new antibodies against cell surface and intracellular antigens. Many of these paraneoplastic autoimmune disorders manifest as a form of movement disorder. With the discovery of new neuronal antibodies, an increasing number of idiopathic or neurodegenerative movement disorders are now being reclassified as immune-mediated movement disorders. These include anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis which may present with orolingual facial dyskinesia and stereotyped movements, CRMP-5 IgG presenting with chorea, anti-Yo paraneoplastic cerebellar degeneration presenting with ataxia, anti-VGKC complex (Caspr2 antibodies) neuromyotonia, opsoclonus-myoclonus-ataxia syndrome, and muscle rigidity and episodic spasms (amphiphysin, glutamic acid decarboxylase, glycine receptor, GABA(A)-receptor associated protein antibodies) in stiff-person syndrome. Movement disorders may be a presentation for paraneoplastic autoimmune disorders. Recognition of these disorders and their common phenomenology is important because it may lead to the discovery of an occult malignancy. Copyright © 2017 Elsevier Ltd. All rights reserved.

  6. Autoimmune thyroiditis presenting as interstitial granulomatous dermatitis Dermatite intersticial granulomatosa como apresentação de tireoidite autoimune

    Directory of Open Access Journals (Sweden)

    Joana Antunes

    2012-10-01

    Full Text Available A 54-year-old female presented with recurrent, widespread, erythematous, painful plaques, over a 3-month period. Skin biopsy was compatible with interstitial granulomatous dermatitis. Additional investigation revealed hypothyroidism and positive anti-thyroid antibodies. Normalization of thyroid function and high-potency topical corticosteroids provided only transitory improvement of the dermatosis. Interstitial granulomatous dermatitis is a histologic inflammatory reaction, with variable cutaneous expression. It has been reported in association with several drugs, lymphoproliferative diseases and autoimmune disorders, such as rheumatoid arthritis, systemic lupus erythematosus and vasculitis, but association with autoimmune thyroiditis is rare. Optimal therapy for this condition is yet to be established, but topical corticosteroids have been a mainstay of treatment. In most cases, this disease is characterized by flares and remissions.Uma doente de 54 anos foi avaliada por placas eritematosas, dolorosas, disseminadas, recorrentes, com 3 meses de evolução. A biopsia cutânea foi compatível com dermatite intersticial granulomatosa. Os restantes exames laboratoriais revelaram hipotiroidismo e anticorpos anti-tiroideus positivos. Apesar da normalização da função tiroideia e de tratamento com corticóide tópico de alta potência, a dermatose melhorou apenas parcialmente. Dermatite intersticial inflamatória é um diagnóstico histopatológico, com expressão clínica variável. Tem sido associada a vários fármacos, doenças linfoproliferativas e autoimunes, nomeadamente artrite reumatóide, lupus eritematoso sistémico e vasculites, mas a associação com tireoidite autoimune é rara. Até ao momento, não foi definido nenhum tratamento específico, mas os corticóides tópicos são dos fármacos mais utilizados. A doença caracteriza-se por períodos de agravamento e remissão.

  7. Bipolar Disorder in Women

    Directory of Open Access Journals (Sweden)

    Sermin Kesebir

    2013-06-01

    Full Text Available The research on gender's role in bipolar disorders has drawn significant interest recently. The presentation and course of bipolar disorder differs between women and men. Women experience depressive episodes, dysphoric mood, mixed states, rapid cycling and seasonal patterns more often than men. Comorbidity, particularly thyroid disease, migraine, obesity, and anxiety disorders laso occur more frequently in women than men. On the other hand men with bipolar disorder are also more likely than women to have problems with drug or alcohol abuse. The pregnancy and postpartum period is a time of high risk for onset and recurrence of bipolar disorder in women.

  8. Affective disorders among patients with borderline personality disorder.

    Science.gov (United States)

    Sjåstad, Hege Nordem; Gråwe, Rolf W; Egeland, Jens

    2012-01-01

    The high co-occurrence between borderline personality disorder and affective disorders has led many to believe that borderline personality disorder should be considered as part of an affective spectrum. The aim of the present study was to examine whether the prevalence of affective disorders are higher for patients with borderline personality disorder than for patients with other personality disorders. In a national cross-sectional study of patients receiving mental health treatment in Norway (N = 36 773), we determined whether psychiatric outpatients with borderline personality disorder (N = 1 043) had a higher prevalence of affective disorder in general, and whether they had an increased prevalence of depression, bipolar disorder or dysthymia specifically. They were compared to patients with paranoid, schizoid, dissocial, histrionic, obsessive-compulsive, avoidant, dependent, or unspecified personality disorder, as well as an aggregated group of patients with personality disorders other than the borderline type (N = 2 636). Odds ratios were computed for the borderline personality disorder group comparing it to the mixed sample of other personality disorders. Diagnostic assessments were conducted in routine clinical practice. More subjects with borderline personality disorder suffered from unipolar than bipolar disorders. Nevertheless, borderline personality disorder had a lower rate of depression and dysthymia than several other personality disorder groups, whereas the rate of bipolar disorder tended to be higher. Odds ratios showed 34% lower risk for unipolar depression, 70% lower risk for dysthymia and 66% higher risk for bipolar disorder in patients with borderline personality disorder compared to the aggregated group of other personality disorders. The results suggest that borderline personality disorder has a stronger association with affective disorders in the bipolar spectrum than disorders in the unipolar spectrum. This association may reflect

  9. Affective disorders among patients with borderline personality disorder.

    Directory of Open Access Journals (Sweden)

    Hege Nordem Sjåstad

    Full Text Available BACKGROUND: The high co-occurrence between borderline personality disorder and affective disorders has led many to believe that borderline personality disorder should be considered as part of an affective spectrum. The aim of the present study was to examine whether the prevalence of affective disorders are higher for patients with borderline personality disorder than for patients with other personality disorders. METHODS: In a national cross-sectional study of patients receiving mental health treatment in Norway (N = 36 773, we determined whether psychiatric outpatients with borderline personality disorder (N = 1 043 had a higher prevalence of affective disorder in general, and whether they had an increased prevalence of depression, bipolar disorder or dysthymia specifically. They were compared to patients with paranoid, schizoid, dissocial, histrionic, obsessive-compulsive, avoidant, dependent, or unspecified personality disorder, as well as an aggregated group of patients with personality disorders other than the borderline type (N = 2 636. Odds ratios were computed for the borderline personality disorder group comparing it to the mixed sample of other personality disorders. Diagnostic assessments were conducted in routine clinical practice. RESULTS: More subjects with borderline personality disorder suffered from unipolar than bipolar disorders. Nevertheless, borderline personality disorder had a lower rate of depression and dysthymia than several other personality disorder groups, whereas the rate of bipolar disorder tended to be higher. Odds ratios showed 34% lower risk for unipolar depression, 70% lower risk for dysthymia and 66% higher risk for bipolar disorder in patients with borderline personality disorder compared to the aggregated group of other personality disorders. CONCLUSIONS: The results suggest that borderline personality disorder has a stronger association with affective disorders in the bipolar spectrum than

  10. Affective Disorders among Patients with Borderline Personality Disorder

    Science.gov (United States)

    Sjåstad, Hege Nordem; Gråwe, Rolf W.; Egeland, Jens

    2012-01-01

    Background The high co-occurrence between borderline personality disorder and affective disorders has led many to believe that borderline personality disorder should be considered as part of an affective spectrum. The aim of the present study was to examine whether the prevalence of affective disorders are higher for patients with borderline personality disorder than for patients with other personality disorders. Methods In a national cross-sectional study of patients receiving mental health treatment in Norway (N = 36 773), we determined whether psychiatric outpatients with borderline personality disorder (N = 1 043) had a higher prevalence of affective disorder in general, and whether they had an increased prevalence of depression, bipolar disorder or dysthymia specifically. They were compared to patients with paranoid, schizoid, dissocial, histrionic, obsessive-compulsive, avoidant, dependent, or unspecified personality disorder, as well as an aggregated group of patients with personality disorders other than the borderline type (N = 2 636). Odds ratios were computed for the borderline personality disorder group comparing it to the mixed sample of other personality disorders. Diagnostic assessments were conducted in routine clinical practice. Results More subjects with borderline personality disorder suffered from unipolar than bipolar disorders. Nevertheless, borderline personality disorder had a lower rate of depression and dysthymia than several other personality disorder groups, whereas the rate of bipolar disorder tended to be higher. Odds ratios showed 34% lower risk for unipolar depression, 70% lower risk for dysthymia and 66% higher risk for bipolar disorder in patients with borderline personality disorder compared to the aggregated group of other personality disorders. Conclusions The results suggest that borderline personality disorder has a stronger association with affective disorders in the bipolar spectrum than disorders in the unipolar

  11. Personality Disorders in patients with disorders in eating behaviors

    Directory of Open Access Journals (Sweden)

    Vanesa Carina Góngora

    2016-02-01

    Full Text Available The interest for the systematic study of personality disorder in patients with eating disorders starts in 1980 with the edition of the DSM III multiaxial classification system. Since then, several publications have been focused on the prevalence and the effect on treatment of personality disorders in bulimic and anorexic patients. These researches showed inconsistent results due to conceptual and methodological divergences. In this paper, the more relevant findings of these studies are presented and the possible sources of discrepancy are analyzed. In general, there is a moderate comorbidity between personality disorders and eating disorders. The most frequent disorders are borderline, histrionic, obsessive-compulsive, dependent and avoidant personality disorders. Borderline and histrionic personality disorders are more frequently associated with bulimia, whereas avoidant and obsessive- compulsive personality disorders are more characteristic of anorexia nervosa. Nevertheless, the effect of the relationship between eating disorders and personality disorders in treatment remains uncertain, giving raise to several controversies and researches. 

  12. Genitourinary complications as initial presentation of inherited ...

    African Journals Online (AJOL)

    Epidermolysis bullosa (EB) is a rare disorder that presents with urological complications. We present a 6-year-old boy admitted with urological symptoms that revealed an inherited EB misdiagnosed. We also review the literature on this disorder and management of the common urological complications.

  13. Eating Disorders

    Science.gov (United States)

    ... of-control eating Women are more likely than men to have eating disorders. They usually start in the teenage years and often occur along with depression, anxiety disorders, and substance abuse. Eating disorders can ...

  14. Eating Disorders

    Science.gov (United States)

    ... Application Process Managing Grants Clinical Research Training Small Business Research Labs at NIMH Labs at NIMH Home Research ... About Eating Disorders More Publications About Eating Disorders Research Results PubMed: Journal Articles about Eating Disorders Contact Us The National ...

  15. Personality Disorders

    Science.gov (United States)

    ... Disorders in Adults Data Sources Share Personality Disorders Definitions Personality disorders represent “an enduring pattern of inner ... MSC 9663 Bethesda, MD 20892-9663 Follow Us Facebook Twitter YouTube Google Plus NIMH Newsletter NIMH RSS ...

  16. Schizoaffective Disorder

    Science.gov (United States)

    ... variations in brain chemistry and structure. Risk factors Factors that increase the risk of developing schizoaffective disorder include: Having a close blood relative who has schizoaffective disorder, schizophrenia or bipolar disorder Stressful events that trigger symptoms ...

  17. Generalised anxiety disorder

    Directory of Open Access Journals (Sweden)

    Bojana Avguštin Avčin

    2013-10-01

    Full Text Available Generalised anxiety disorder is characterised by persistent, excessive and difficult-to-control worry, which may be accompanied by several psychic and somatic symptoms, including suicidality. Generalized anxiety disorder is the most common psychiatric disorder in the primary care, although it is often underrecognised and undertreated. Generalized anxiety disorder is typically a chronic condition with low short- and medium-term remission rates. Clinical presentations often include depression, somatic illness, pain, fatigue and problems sleeping. The evaluation of prognosis is complicated by frequent comorbidity with other anxiety disorders and depression, which worsen the long-term outcome and accompanying burden of disability. The two main treatments for generalised anxiety disorder are medications and psychotherapy. Selective serotonin reuptake inhibitors and serotonin-norepinephrine reuptake inhibitors represent first-line psychopharmacologic treatment for generalised anxiety disorder. The most extensively studied psychotherapy for anxiety is cognitive behavioural therapy which has demonstrated efficacy throughout controlled studies.

  18. Autoimmune lymphoproliferative syndrome and non-Hodgkin lymphoma: what 18F-fluorodeoxyglucose positron emission tomography/computed tomography can do in the management of these patients? Suggestions from a case report.

    Science.gov (United States)

    Cistaro, A; Pazè, F; Durando, S; Cogoni, M; Faletti, R; Vesco, S; Vallero, S; Quartuccio, N; Treglia, G; Ramenghi, U

    2014-01-01

    A young patient with undefined autoimmune lymphoproliferative syndrome (ALPS-U) and low back pain underwent a CT and MRI study that showed enhancing vertebral lesions, some pulmonary nodules and diffuse latero-cervical lymphadenopathy. A (18)F-FDG-PET/CT scan showed many areas of intense (18)F-FDG uptake in multiple vertebrae, in some ribs, in the sacrum, in the liver, in both lungs, in multiple lymph nodes spread in the cervical, thoracic and abdominal chains. A bone marrow biopsy showed a "lymphomatoid granulomatosis", a rare variant of B-cell non-Hodgkin lymphoma (NHL). After the treatment, the (18)F-FDG-PET/CT scan showed a complete metabolic response. Copyright © 2013 Elsevier España, S.L. and SEMNIM. All rights reserved.

  19. Somatic symptom disorder

    Science.gov (United States)

    ... related disorders; Somatization disorder; Somatiform disorders; Briquet syndrome; Illness anxiety disorder References American Psychiatric Association. Somatic symptom disorder. Diagnostic and Statistical Manual of Mental Disorders . ...

  20. Rett syndrome: EEG presentation.

    Science.gov (United States)

    Robertson, R; Langill, L; Wong, P K; Ho, H H

    1988-11-01

    Rett syndrome, a degenerative neurological disorder of girls, has a classical presentation and typical EEG findings. The electroencephalograms (EEGs) of 7 girls whose records have been followed from the onset of symptoms to the age of 5 or more are presented. These findings are tabulated with the Clinical Staging System of Hagberg and Witt-Engerström (1986). The records show a progressive deterioration in background rhythms in waking and sleep. The abnormalities of the background activity may only become evident at 4-5 years of age or during stage 2--the Rapid Destructive Stage. The marked contrast between waking and sleep background may not occur until stage 3--the Pseudostationary Stage. In essence EEG changes appear to lag behind clinical symptomatology by 1-3 years. An unexpected, but frequent, abnormality was central spikes seen in 5 of 7 girls. They appeared to be age related and could be evoked by tactile stimulation in 2 patients. We hypothesize that the prominent 'hand washing' mannerism may be self-stimulating and related to the appearance of central spike discharges.

  1. Anxiety disorders: Psychiatric comorbidities and psychosocial ...

    African Journals Online (AJOL)

    Anxiety disorders: Psychiatric comorbidities and psychosocial stressors ... were present for 98.1% of patients and 36.9% had multiple anxiety disorders. ... and the comorbidity of anxiety and personality disorders should receive further attention.

  2. [Obsessive-compulsive disorder. A hidden disorder].

    Science.gov (United States)

    Haraldsson, Magnús

    2015-02-01

    Obsessive-compulsive disorder is a common and often chronic psychiatric illness that significantly interferes with the patient´s functioning and quality of life. The disorder is characterized by excessive intrusive and inappropriate anxiety evoking thoughts as well as time consuming compulsions that cause significant impairment and distress. The symptoms are often accompanied by shame and guilt and the knowledge of the general public and professional community about the disorder is limited. Hence it is frequently misdiagnosed or diagnosed late. There are indications that the disorder is hereditary and that neurobiological processes are involved in its pathophysiology. Several psychological theories about the causes of obsessive-compulsive disorder are supported by empirical evidence. Evidence based treatment is either with serotoninergic medications or cognitive behavioral therapy, particularly a form of behavioral therapy called exposure response prevention. Better treatment options are needed because almost a third of people with obsessive-compulsive disorder respond inadequatly to treatment. In this review article two cases of obsessive-compulsive disorder are presented. The former case is a young man with typical symptoms that respond well to treatment and the latter is a middle aged lady with severe treatment resistant symptoms. She underwent stereotactic implantation of electrodes and received deep brain stimulation, which is an experimental treatment for severe obsessive-compulsive disorder that does not respond to any conventional treatment. Landspitali University Hospital, Division of Psychiatry. Faculty of Medicine, University of Iceland.

  3. Medical comorbidity of sleep disorders.

    Science.gov (United States)

    Dikeos, Dimitris; Georgantopoulos, Georgios

    2011-07-01

    Recently published literature indicates that sleep disorders present with medical comorbidities quite frequently. The coexistence of a sleep disorder with a medical disorder has a substantial impact for both the patient and the health system. Insomnia and hypersomnia are highly comorbid with medical conditions, such as chronic pain and diabetes, as well as with various cardiovascular, respiratory, gastrointestinal, urinary and neurological disorders. Restless legs syndrome and periodic leg movement syndrome have been associated with iron deficiency, kidney disease, diabetes, and neurological, autoimmune, cardiovascular and respiratory disorders. Rapid eye movement behaviour disorder has been described as an early manifestation of serious central nervous system diseases; thus, close neurological monitoring of patients referring with this complaint is indicated. Identification and management of any sleep disorder in medical patients is important for optimizing the course and prognosis. Of equal importance is the search for undetected medical disorder in patients presenting with sleep disorders.

  4. Celiac Disease Presenting with Immune Thrombocytopenic Purpura

    Directory of Open Access Journals (Sweden)

    Hakan Sarbay

    2017-01-01

    Full Text Available Celiac disease (CD is an immunological disorder. Clinical manifestations occur as a result of intestinal mucosa damage and malabsorption. CD is also associated with extraintestinal manifestations and autoimmune disorders. The coexistence of CD and autoimmune diseases has been described before. In this article, a patient with CD presenting with thrombocytopenia is discussed.

  5. Temporomandibular Disorders and Headache.

    Science.gov (United States)

    Graff-Radford, Steven B; Abbott, Jeremy J

    2016-08-01

    Temporomandibular disorders (TMD) and primary headaches can be perpetual and debilitating musculoskeletal and neurological disorders. The presence of both can affect up to one-sixth of the population at any one time. Initially, TMDs were thought to be predominantly musculoskeletal disorders, and migraine was thought to be solely a cerebrovascular disorder. The further understanding of their pathophysiology has helped to clarify their clinical presentation. This article focuses on the role of the trigeminal system in associating TMD and migraine. By discussing recent descriptions of prevalence, diagnosis, and treatment of headache and TMD, we will further elucidate this relationship. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Motility Disorders in Children.

    Science.gov (United States)

    Nurko, Samuel

    2017-06-01

    Gastrointestinal motility disorders in the pediatric population are common and can range from benign processes to more serious disorders. Performing and interpreting motility evaluations in children present unique challenges. There are primary motility disorders but abnormal motility may be secondary due to other disease processes. Diagnostic studies include radiographic scintigraphic and manometry studies. Although recent advances in the genetics, biology, and technical aspects are having an important impact and have allowed for a better understanding of the pathophysiology and therapy for gastrointestinal motility disorders in children, further research is needed to be done to have better understanding of the pathophysiology and for better therapies. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Speech disorder prevention

    Directory of Open Access Journals (Sweden)

    Miladis Fornaris-Méndez

    2017-04-01

    Full Text Available Language therapy has trafficked from a medical focus until a preventive focus. However, difficulties are evidenced in the development of this last task, because he is devoted bigger space to the correction of the disorders of the language. Because the speech disorders is the dysfunction with more frequently appearance, acquires special importance the preventive work that is developed to avoid its appearance. Speech education since early age of the childhood makes work easier for prevent the appearance of speech disorders in the children. The present work has as objective to offer different activities for the prevention of the speech disorders.

  8. Addictive Disorders in Adolescents.

    Science.gov (United States)

    Truong, Anh; Moukaddam, Nidal; Toledo, Alexander; Onigu-Otite, Edore

    2017-09-01

    Addictive disorders in youth represent a dynamic field characterized by shifting patterns of substance use and high rates of experimentation, while retaining the risky behaviors and negative outcomes associated with established drug classes. Youth/adolescents are also at the forefront of use of new technologies, and non-substance-related disorders are pertinent. These disorders present with similar pictures of impairment, and can be diagnosed following the same principles. An underlying mental disorder and the possibility of a dual diagnosis need to be assessed carefully, and optimal treatment includes psychosocial treatments with applicable pharmacologic management, the latter representing an expanding field. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. Disorders of visual perception

    NARCIS (Netherlands)

    Ffytche, Dominic H.; Blom, J. D.; Catani, M.

    Visual perceptual disorders are often presented as a disparate group of neurological deficits with little consideration given to the wide range of visual symptoms found in psychiatric and neurodevelopmental disease. Here, the authors attempt a functional anatomical classification of all disorders

  10. Disorders of visual perception

    NARCIS (Netherlands)

    Ffytche, Dominic H.; Blom, J. D.; Catani, M.

    2010-01-01

    Visual perceptual disorders are often presented as a disparate group of neurological deficits with little consideration given to the wide range of visual symptoms found in psychiatric and neurodevelopmental disease. Here, the authors attempt a functional anatomical classification of all disorders

  11. Temperament of Children and Adolescents Presenting with Unexplained Physcial Symtoms

    OpenAIRE

    Raghutaman, G.; Cherian, Alice

    2003-01-01

    The aims of the study were (1) To analyse the temperament of children and adolescents presenting with Somatoform disorder and Dissociative (conversion) disorder and (2) To evaluate the nosological status of conversion disorder from the angle of temperament. Temperament of 30 children and adolescents having the diagnosis of either Dissociative (Conversion) disorder or Somatoform disorder were compared with temperament of 30 matched normal control groupTemperament was assessed by using Temperam...

  12. Atypical presentations of Wolframs syndrome

    Directory of Open Access Journals (Sweden)

    S Saran

    2012-01-01

    Full Text Available Background: Wolfram syndrome is a rare hereditary or sporadic neurodegenerative disorder also known as DIDMOAD. The classically described presentation is of insulin-dependent diabetes, followed by optic atrophy, central diabetes insipidus, and sensory neural deafness. Also included are less well-described presentations of Wolframs syndrome. We here present three cases of atypical presentation of this syndrome. Case 1: A 15-year-old boy with insulin-dependent diabetes was presented for evaluation of depressive symptoms associated with suicidal tendency. Neuropsychiatric manifestations are described with Wolframs syndrome, and wolframin gene, in recessive inheritance, is associated with psychiatric illnesses without other manifestations of Wolframs syndrome. Case 2: A 17-year-old diabetic boy on insulin with good control of blood sugar presented for evaluation of delayed puberty. Central hypogonadism and other anterior pituitary hormone dysfunctions are the less publicized hormone dysfunctions in Wolframs syndrome. Case 3: A 23-year-old female who was on insulin for diabetes for the past 14 years, got admitted for evaluation of sudden loss of vision. This patient had developed a vitreous hemorrhage and, on evaluation, was found to have optic atrophy, sensory neural hearing loss, and diabetes insipidus, and presented differently from the gradual loss of vision described in Wolframs syndrome. Conclusion: Wolframs syndrome being a multisystem degenerative disorder can have myriad other manifestations than the classically described features. Neuropsychiatric manifestations, depression with suicidal risk, central hypogonadism, and secondary adrenal insufficiency are among the less well-described manifestations of this syndrome.

  13. Differential diagnosis of bipolar disorder and major depressive disorder.

    Science.gov (United States)

    Hirschfeld, R M

    2014-12-01

    Patients with bipolar disorder spend approximately half of their lives symptomatic and the majority of that time suffering from symptoms of depression, which complicates the accurate diagnosis of bipolar disorder. Challenges in the differential diagnosis of bipolar disorder and major depressive disorder are reviewed, and the clinical utility of several screening instruments is evaluated. The estimated lifetime prevalence of major depressive disorder (i.e., unipolar depression) is over 3 and one-half times that of bipolar spectrum disorders. The clinical presentation of a major depressive episode in a bipolar disorder patient does not differ substantially from that of a patient with major depressive disorder (unipolar depression). Therefore, it is not surprising that without proper screening and comprehensive evaluation many patients with bipolar disorder may be misdiagnosed with major depressive disorder (unipolar depression). In general, antidepressants have demonstrated little or no efficacy for depressive episodes associated with bipolar disorder, and treatment guidelines recommend using antidepressants only as an adjunct to mood stabilizers for patients with bipolar disorder. Thus, correct identification of bipolar disorder among patients who present with depression is critical for providing appropriate treatment and improving patient outcomes. Clinical characteristics indicative of bipolar disorder versus major depressive disorder identified in this review are based on group differences and may not apply to each individual patient. The overview of demographic and clinical characteristics provided by this review may help medical professionals distinguish between major depressive disorder and bipolar disorder. Several validated, easily administered screening instruments are available and can greatly improve the recognition of bipolar disorder in patients with depression. Copyright © 2014 Elsevier B.V. All rights reserved.

  14. Anxiety Disorders

    Science.gov (United States)

    ... the death of a loved one or parents' divorce) and major life transitions (like moving to a ... Ways to Deal With Anxiety Dealing With Difficult Emotions Anxiety Disorders Posttraumatic Stress Disorder Fears and Phobias ...

  15. Bipolar Disorder

    Science.gov (United States)

    Bipolar disorder is a serious mental illness. People who have it go through unusual mood changes. They go ... The down feeling is depression. The causes of bipolar disorder aren't always clear. It runs in families. ...

  16. Mathematics disorder

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001534.htm Mathematics disorder To use the sharing features on this page, please enable JavaScript. Mathematics disorder is a condition in which a child's ...

  17. Personality Disorders

    Science.gov (United States)

    Personality disorders are a group of mental illnesses. They involve long-term patterns of thoughts and behaviors ... serious problems with relationships and work. People with personality disorders have trouble dealing with everyday stresses and ...

  18. Cephalic Disorders

    Science.gov (United States)

    ... destructive lesions, but are sometimes the result of abnormal development. The disorder can occur before or after birth. Porencephaly most ... decade of life. SCHIZENCEPHALY is a rare developmental disorder characterized by abnormal slits, or clefts, in the cerebral hemispheres. Schizencephaly ...

  19. Attention-deficit hyperactivity disorder in bipolar disorder

    OpenAIRE

    Rydén, Eleonore

    2010-01-01

    Attention-deficit hyperactivity disorder (ADHD) is a developmental disorder, i.e., it is by definition present from childhood. The main features characterizing ADHD are the difficulties to regulate attention, activity level, and impulses. The hallmark of bipolar disorder is episodic mood alterations with restitution between episodes. Although debut in childhood may occur, bipolar disorder typically debuts in late adolescence or early adulthood. The overarching aim with this ...

  20. Conduct disorders.

    Science.gov (United States)

    Buitelaar, Jan K; Smeets, Kirsten C; Herpers, Pierre; Scheepers, Floor; Glennon, Jeffrey; Rommelse, Nanda N J

    2013-02-01

    Conduct disorder (CD) is a frequently occurring psychiatric disorder characterized by a persistent pattern of aggressive and non-aggressive rule breaking antisocial behaviours that lead to considerable burden for the patients themselves, their family and society. This review paper updates diagnostic and therapeutic approaches to CD in the light of the forthcoming DSM-5 definition. The diagnostic criteria for CD will remain unchanged in DSM-5, but the introduction of a specifier of CD with a callous-unemotional (CU) presentation is new. Linked to this, we discuss the pros and cons of various other ways to subtype aggression/CD symptoms. Existing guidelines for CD are, with few exceptions, already of a relatively older date and emphasize that clinical assessment should be systematic and comprehensive and based on a multi-informant approach. Non-medical psychosocial interventions are recommended as the first option for the treatment of CD. There is a role for medication in the treatment of comorbid syndromes and/or in case of insufficient response to psychosocial interventions and severe and dangerous aggressive and violent behaviours.

  1. Oppositional defiant disorder

    Science.gov (United States)

    ... as possibilities: Anxiety disorders Attention-deficit/hyperactivity disorder (ADHD) Bipolar disorder Depression Learning disorders Substance abuse disorders Treatment The best treatment for the child is to ...

  2. Panic Disorder and Women

    Science.gov (United States)

    ... health illnesses Alcoholism, substance abuse, and addictive behavior Anxiety disorders Attention deficit hyperactivity disorder Bipolar disorder (manic depressive illness) Borderline personality disorder Depression Eating disorders Post-traumatic ...

  3. Eating Disorders

    OpenAIRE

    Gucciardi, Enza; Celasun, Nalan; Ahmad, Farah; Stewart, Donna E

    2004-01-01

    Abstract Health Issue Eating disorders are an increasing public health problem among young women. Anorexia and bulimia may give rise to serious physical conditions such as hypothermia, hypotension, electrolyte imbalance, endocrine disorders, and kidney failure. Key Issues Eating disorders are primarily a problem among women. In Ontario in 1995, over 90% of reported hospitalized cases of anorexia and bulimia were women. In addition to eating disorders, preoccupation with weight, body image and...

  4. Bipolar Disorder.

    Science.gov (United States)

    Spearing, Melissa

    Bipolar disorder, a brain disorder that causes unusual shifts in a person's mood, affects approximately one percent of the population. It commonly occurs in late adolescence and is often unrecognized. The diagnosis of bipolar disorder is made on the basis of symptoms, course of illness, and when possible, family history. Thoughts of suicide are…

  5. Speech disorders - children

    Science.gov (United States)

    ... disorder; Voice disorders; Vocal disorders; Disfluency; Communication disorder - speech disorder; Speech disorder - stuttering ... evaluation tools that can help identify and diagnose speech disorders: Denver Articulation Screening Examination Goldman-Fristoe Test of ...

  6. Virtual Presenters: Towards Interactive Virtual Presentations

    NARCIS (Netherlands)

    Nijholt, Antinus; Cappellini, V.; Hemsley, J.

    2005-01-01

    We discuss having virtual presenters in virtual environments that present information to visitors of these environments. Some current research is surveyed and we will look in particular to our research in the context of a virtual meeting room where a virtual presenter uses speech, gestures, pointing

  7. Depressive disorder due to craniopharyngioma.

    Science.gov (United States)

    Spence, S A; Taylor, D G; Hirsch, S R

    1995-01-01

    Secondary causes of depression are legion, and must always be considered in patients presenting with features atypical of primary idiopathic depressive disorder. The case described is that of a middle-aged woman presenting initially with a major depressive disorder who was subsequently found to have a craniopharyngioma, leading to a revised diagnosis of mood disorder due to the tumour. Some features of the presentation might have led to earlier diagnosis had their localizing significance been recognized. Diencephalic lesions should always be considered in patients presenting with the hypersomnic-hyperphagic variant of depressive disorder. Images Figure 1 PMID:8544149

  8. Hyperthyroidism: an unusual case presentation.

    Science.gov (United States)

    Scripture, D L

    1998-02-01

    Hyperthyroidism is the most common disorder of the thyroid. Patients typically present with complaints consistent with a hypermetabolic state, including nervousness, weight loss, heat intolerance, palpitations, irritability, and tremor. This case report reviews a 34-year-old woman who presented with unilateral upper extremity weakness, weight gain, and an episode of atrial fibrillation, the latter coinciding with a 36-hour lack of sleep and excess alcohol and caffeine intake. Although an extensive neurologic evaluation failed to identify any abnormality, the patient's laboratory analysis revealed elevations in thyroxine (T4) and triiodothyronine (T3) levels with unsuppressed thyroid-stimulating hormone levels. Subsequent treatment with the antithyroid drug methimazole (Tapazole) provided complete relief of symptoms. This case report illustrates how health care providers can be diverted to pursue a neurologic etiology when muscle weakness presents as a unilateral symptom. Plausible alternative causes for muscle weakness and other symptoms are presented.

  9. Clinical Presentations of Acute Leukemia

    International Nuclear Information System (INIS)

    Shahab, F.; Raziq, F.

    2014-01-01

    Objective: To document the clinical presentation and epidemiology of various types of acute leukemia with their respective referral source at a tertiary level centre in Peshawar. Study Design: An observational study. Place and Duration of Study: Department of Pathology, Hayatabad Medical Complex (HMC), Peshawar, from January 2011 to May 2012. Methodology: A total of 618 bone marrow biopsy reports were reviewed. All biopsy reports labeled as acute leukemia were reviewed for age, gender, address, referring unit, diagnosis on bone marrow examination, presenting complaints, duration of illness and findings of clinical examination. Results: Ninety-two patients were diagnosed as suffering from acute leukemias (15%). ALL was most prevalent (46%), followed by AML (38%) and undifferentiated acute leukemia (16%). Males were affected more compared to females (60% vs. 40%). ALL and AML were predominant in pediatric (64%) and adults (77%) patients respectively. Patients from Afghanistan accounted for 33% of all cases followed by Peshawar (14%). Fever (77%), pallor (33%) and bleeding disorders (23%) were the main presenting complaints. Enlargement of liver, spleen and lymph nodes together was associated with ALL compared with AML (p = 0.004). Conclusion: ALL-L1 and AML-M4 were the most common sub-types. Fever, pallor and bleeding disorders were the main presenting complaints. Enlargement of liver, spleen and lymph nodes was more frequently associated with ALL compared to AML. (author)

  10. Dor torácica no transtorno de pânico: sintoma somático ou manifestação de doença arterial coronariana? Chest pain and panic disorder: physical symptom or coronary heart disease presentation?

    Directory of Open Access Journals (Sweden)

    Gastão Luiz Fonseca Soares Filho

    2007-01-01

    Full Text Available O transtorno do pânico (TP pertence ao grupo dos transtornos de ansiedade caracterizado por repetidos e inesperados ataques de pânico, nos quais predominam os sintomas somáticos e intensa apreensão relacionada à idéia de perda de controle ou morte iminente. Entre os sintomas somáticos que o paciente pode apresentar, a dor torácica exerce papel preponderante, reforçando a idéia de que ele esteja desenvolvendo problema cardiovascular grave, ameaçador à vida, levando à repetida busca por atendimento em unidades cardiológicas ou outros serviços de emergência. A isquemia miocárdica desenvolve-se quando o fluxo de sangue coronariano se torna inadequado para alcançar as exigências metabólicas miocárdicas e manter a função cardíaca adequada. Sua principal causa é a doença arterial coronariana (DAC e a mais comum manifestação clínica da isquemia miocárdica é a dor torácica. Este relato de caso ilustra a comorbidade do TP com a DAC, discutindo como lidar com essa complexa situação clínica. O diagnóstico de transtorno de pânico raramente é feito e graves conseqüências podem decorrer disso, inclusive na evolução do transtorno psiquiátrico.Panic disorder is a mental disorder that belongs to the group of the anxiety disorders, characterized by repeated and unexpected panic attacks, in which the somatic symptoms are associated to intense apprehension related to the idea of "loosing control" or an imminent death sensation. Amongst somatic symptoms that patients can present, chest pain plays an important role, reinforcing the idea that the patient is threatened by a serious cardiovascular problem, leading to repeated search for attendance in cardiologic or other emergency rooms. Myocardial ischemia develops when coronary blood flow becomes inadequate to meet the requirements of the myocardium for oxygen and metabolic substrates to maintain adequate cardiac function. Coronary stenosis is considered the main cause of

  11. Mental disorders, brain disorders, neurodevelopmental disorders ...

    African Journals Online (AJOL)

    . Amongst DSM's most vocal 'insider' critics has been Thomas Insel, Director of the US National Institute of Mental Health. Insel has publicly criticised DSM's adherence to a symptom-based classification of mental disorder, and used the weight ...

  12. Personality dimensions and disorders in pathological gambling

    DEFF Research Database (Denmark)

    Odlaug, Brian Lawrence; Schreiber, Liana R N; Grant, Jon E

    2013-01-01

    This review presents the most current research in personality dimensions and disorders with respect to pathological gambling.......This review presents the most current research in personality dimensions and disorders with respect to pathological gambling....

  13. Smartphone-based objective monitoring in bipolar disorder

    DEFF Research Database (Denmark)

    Faurholt-Jepsen, Maria; Bauer, Michael; Kessing, Lars Vedel

    2018-01-01

    , anxiety, substance abuse, eating disorder, schizophrenia and bipolar disorder have been developed and used. The present paper presents the status and findings from studies using automatically generated objective smartphone data in the monitoring of bipolar disorder, and addresses considerations...

  14. Making your presentation fun: creative presentation techniques

    Energy Technology Data Exchange (ETDEWEB)

    KEENEN,MARTHA JANE

    2000-05-18

    What possesses someone to volunteer and go through hoops and red tape to make a presentation at a conference? For that matter, why does anyone ever present anything to anyone? Actually, presentations are a fact of life and there are many reasons for doing a presentation and doing it well. New and existing staff need training and orientation to the way things are done here. Handing all of them a manual and hoping they read it is pretty much a waste of paper. On the other hand, an effective, entertaining and upbeat presentation on the relevant topics is more likely to stick with those people. They will even have a name and face to remember and seek out when they have an issue on or with that topic. This can be a very effective beginning for networking with new peers. The presenter is seen as knowledgeable, as a source of information on company topics and possibly evaluated as a potential mentor or future manager. Project staff and/or peers benefit from clear, concise, presentations of topical knowledge. This is one way that a group working on various aspects of the same project or program can stay in touch and in step with each other. Most importantly, presentations may be the best or only door into the minds (and budgets) of management and customers. These presentations are a wonderful opportunity to address legal and compliance issues, budget, staffing, and services. Here is a chance, maybe the only one, to demonstrate and explain the wonderfulness of a program and the benefit they get by using the services offered most effectively. An interactive presentation on legal and compliance issues can be an effective tool in helping customers and/or management make good risk management decisions.

  15. [Eating disorders].

    Science.gov (United States)

    Miyake, Yoshie; Okamoto, Yuri; Jinnin, Ran; Shishida, Kazuhiro; Okamoto, Yasumasa

    2015-02-01

    Eating disorders are characterized by aberrant patterns of eating behavior, including such symptoms as extreme restriction of food intake or binge eating, and severe disturbances in the perception of body shape and weight, as well as a drive for thinness and obsessive fears of becoming fat. Eating disorder is an important cause for physical and psychosocial morbidity in young women. Patients with eating disorders have a deficit in the cognitive process and functional abnormalities in the brain system. Recently, brain-imaging techniques have been used to identify specific brain areas that function abnormally in patients with eating disorders. We have discussed the clinical and cognitive aspects of eating disorders and summarized neuroimaging studies of eating disorders.

  16. Phase II Study Evaluating Busulfan and Fludarabine as Preparative Therapy in Adults With Hematopoietic Disorders Undergoing MUD SCT

    Science.gov (United States)

    2009-01-22

    Chronic Myeloid Leukemia; Acute Myelogenous Leukemia; Myelodysplasia; Acute Lymphocytic Leukemia; Severe Aplastic Anemia; Non-Hodgkin's Lymphoma; Lymphoproliferative Disease; Multiple Myeloma; Advanced Myeloproliferative Disease

  17. Cephalic Disorders

    Science.gov (United States)

    ... information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Patient Organizations Birth Defect Research for Children, Inc. 976 Lake Baldwin Lane Suite 104 Orlando ...

  18. Variable retinal presentations in nanophthalmos

    International Nuclear Information System (INIS)

    Khan, A.; Zafar, S.N.

    2009-01-01

    Nanophthalmos is an uncommon developmental ocular disorder characterized by a small eye with short axial length, high hyperopia and high lens/eye volume ratio due to arrested development of the globe in all directions. Different types of fundus changes can rarely occur with nanophthalmos. We describe five cases of nanophthalmos, each of them presenting with a different fundus appearance. Our case series highlights variability of pigmentary changes from retinal flecks to bone spicules and bull's eye maculopathy, which are rare in the combinations described here. (author)

  19. Sleep Disturbances in Neurodevelopmental Disorders.

    Science.gov (United States)

    Robinson-Shelton, Althea; Malow, Beth A

    2016-01-01

    Sleep disturbances are extremely prevalent in children with neurodevelopmental disorders compared to typically developing children. The diagnostic criteria for many neurodevelopmental disorders include sleep disturbances. Sleep disturbance in this population is often multifactorial and caused by the interplay of genetic, neurobiological and environmental overlap. These disturbances often present either as insomnia or hypersomnia. Different sleep disorders present with these complaints and based on the clinical history and findings from diagnostic tests, an appropriate diagnosis can be made. This review aims to provide an overview of causes, diagnosis, and treatment of sleep disturbances in neurodevelopmental disorders that present primarily with symptoms of hypersomnia and/or insomnia.

  20. Neonatal hemophilia: a rare presentation

    Directory of Open Access Journals (Sweden)

    Nuno Ferreira

    2015-12-01

    Full Text Available Hemophilia A is a X-linked hereditary condition that lead to decreased factor VIII activity, occurs mainly in males. Decreased factor VIII activity leads to increased risk of bleeding events. During neonatal period, diagnosis is made after post-partum bleeding complication or unexpected bleeding after medical procedures. Subgaleal hemorrhage during neonatal period is a rare, severe extracranial bleeding with high mortality and usually related to traumatic labor or coagulation disorders. Subgaleal hemorrhage complications result from massive bleeding. We present a neonate with unremarkable family history and uneventful pregnancy with a vaginal delivery with no instrumentation, presenting with severe subgaleal bleeding at 52 hours of life. Aggressive support measures were implemented and bleeding managed. The unexpected bleeding lead to a coagulation study and the diagnosis of severe hemophilia A. There were no known sequelae. This case shows a rare hemophilia presentation reflecting the importance of coagulation studies when faced with unexplained severe bleeding.