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Sven Jarius, Marius Ringelstein, Jürgen Haas, Irina I Serysheva, Lars Komorowski, Kai Fechner, Klaus-Peter Wandinger, Philipp Albrecht, Harald Hefter, Andreas Moser, Eva Neuen-Jacob, Hans-Peter Hartung, Brigitte Wildemann, Orhan Aktas
BACKGROUND: Recently, we described a novel autoantibody, anti-Sj/ITPR1-IgG, that targets the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) in patients with cerebellar ataxia. However, ITPR1 is expressed not only by Purkinje cells but also in the anterior horn of the spinal cord, in the substantia gelatinosa and in the motor, sensory (including the dorsal root ganglia) and autonomic peripheral nervous system, suggesting that the clinical spectrum associated with autoimmunity to ITPR1 may be broader than initially thought...
October 24, 2016: Journal of Neuroinflammation
Wen-Chien Chou, Wei-Han Huang, Ming-Chung Wang, Chao-Sung Chang, Shih-Peng Yeh, Tzeon-Jye Chiou, Yeu-Chin Chen, Tseng-Hsi Lin, Ming-Ching Shen
BACKGROUND: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and acquired hematopoietic stem cell disease, with florid clinical presentations. Although this disease has been characterized in the western countries, its clinical and laboratory features in Taiwan have not yet been reported. RESULTS: As a part of an international prospective, non-interventional, observational registration trial of PNH, we have analyzed 63 patients recruited between 2009 and 2015 in Taiwan, with comparison to the 3857 patients in the rest of the world (ROW)...
2016: Thrombosis Journal
Corinne G Wong, Mehran Taban, Kathryn Osann, Fred N Ross-Cisneros, T C Bruice, Grit Zahn, Timothy You
PURPOSE: Intravitreal vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF) produced florid retinal neovascularization and hemorrhage in the rabbit. This study seeks to determine whether sustained subchoroidal release of both VEGF and bFGF can induce robust choroidal neovascularization (CNV) in the rabbit. METHODS: Subchoroidal implantation through the sclera of polymeric pellets containing both 15 μg VEGF and 15 μg bFGF was performed on adult pigmented male Dutch belted rabbits (N = 6) and NZW albinos (N = 8)...
October 17, 2016: Current Eye Research
Huai-Hsuan Tseng, Jonathan P Roiser, Gemma Modinos, Irina Falkenberg, Carly Samson, Philip McGuire, Paul Allen
Emotional processing dysfunction is widely reported in patients with chronic schizophrenia and first-episode psychosis (FEP), and has been linked to functional abnormalities of corticolimbic regions. However, corticolimbic dysfunction is less studied in people at ultra-high risk for psychosis (UHR), particularly during processing prosodic voices. We examined corticolimbic response during an emotion recognition task in 18 UHR participants and compared them with 18 FEP patients and 21 healthy controls (HC). Emotional recognition accuracy and corticolimbic response were measured during functional magnetic resonance imaging (fMRI) using emotional dynamic facial and prosodic voice stimuli...
2016: NeuroImage: Clinical
Marta Wieczorek, Annette Czernik
Paraneoplastic pemphigus (PNP) is a fatal autoimmune blistering disease associated with an underlying malignancy. It is a newly recognized blistering disease, which was first recognized in 1990 by Dr Anhalt who described an atypical pemphigus with associated neoplasia. In 2001, Nguyen proposed the term paraneoplastic autoimmune multiorgan syndrome because of the recognition that the condition affects multiple organ systems. PNP presents most frequently between 45 and 70 years old, but it also occurs in children and adolescents...
2016: Clinical, Cosmetic and Investigational Dermatology
José Morales-Roselló, Loida Pamplona-Bueno, Beatriz Montero-Balaguer, Domingo Desantes-Real, Alfredo Perales-Marín
Cystic endosalpingiosis refers to the existence of heterotopic cystic müllerian tissue resembling structures of the fallopian tubes. We report a case of florid cystic endosalpingiosis discovered in a pregnant woman during a scheduled cesarean section and review the current knowledge of this disease. A 30-year-old woman with a twin pregnancy attended the hospital day unit at term. The first twin was in a breech presentation and a cesarean section was scheduled. During the procedure the uterine fundus and part of the body were seen completely seeded with multitude of cyst-like structures resembling hydatids of Morgagni...
2016: Case Reports in Obstetrics and Gynecology
Alexander Bryson, Helen Gardner, Ian Wilson, Tim Rolfe, John Archer
Maintenance electroconvulsive therapy (ECT) is sometimes prescribed for refractory psychiatric conditions. We describe five patients who received maintenance ECT and developed florid temporal epileptiform abnormalities on electroencephalography (EEG) despite no history of epilepsy and normal neuroimaging. All patients had received regular ECT for at least 8 months. Three patients had clinical events consistent with epileptic seizures, and video-EEG monitoring captured electrographic seizures in two patients...
September 26, 2016: Epilepsia
Sahar Aly Daoud, Wesam Maghawri Ismail, Mohamed Salah Abdelhamid, Tamer Mohamed Nabil, Sahar Aly Daoud
HER2/neu is a well-established prognostic and predictive factor for invasive breast cancer. However, the role of HER2/neu in ductal breast carcinoma in situ (DCIS) is debated and recent data have suggested that it is mainly linked to in situ local recurrence. Although molecular data suggest that atypical ductal hyperplasia (ADH) and duct carcinoma in situ (DCIS) are related lesions, albeit with vastly different clinical implications, the role of HER2/neu expression in atypical ductal hyperplasia is not well defined either...
2016: Asian Pacific Journal of Cancer Prevention: APJCP
Eren Yildirim, Serdar Bağlar, Mehmet Ertugrul Ciftci, Erdal Ozcan
A 29-year-old systemically healthy female patient presented to our department. Cone-beam computed tomographic images showed multiple well-defined sclerotic masses with radiolucent border in both right and left molar regions of the mandible. These sclerotic masses were surrounded by a thin radiolucent border. We diagnosed the present pathology as florid cemento-osseous dysplasia and decided to follow the patient without taking biopsy. For the patient, who did not have any clinical complaints, radiographic followupis recommended twice a year...
May 2016: Journal of Oral and Maxillofacial Pathology: JOMFP
Eóin N McNamee, Jesús Rivera-Nieves
Organized lymphoid tissues like the thymus first appeared in jawed vertebrates around 500 million years ago and have evolved to equip the host with a network of specialized sites, strategically located to orchestrate strict immune-surveillance and efficient immune responses autonomously. The gut-associated lymphoid tissues maintain a mostly tolerant environment to dampen our responses to daily dietary and microbial products in the intestine. However, when this homeostasis is perturbed by chronic inflammation, the intestine is able to develop florid organized tertiary lymphoid tissues (TLT), which heralds the onset of regional immune dysregulation...
2016: Frontiers in Immunology
Sara E Wobker, Minghao Zhong, Jonathan I Epstein
We report 13 cases of unique polypoid urothelial tumors with inverted growth pattern (PUTIP) occurring in the proximal ureter and renal pelvis. We describe their morphologic features and further characterize them in regard to TERT promoter mutation status and microsatellite instability. 13 cases were identified in our consult archives from 1994 to present. Patients ranged in age from 52 to 83 years old at the time of diagnosis (mean=68.4 years). Grossly, lesions were described variously as pink-tan to white exophytic and friable lesions that were polypoid or pedunculated, located in the renal pelvis or proximal ureter...
August 26, 2016: Human Pathology
Shino Magaki, Nora Ostrzega, Elliot Ho, Catherine Yim, Phillis Wu, Harry V Vinters
Hemophagocytic lymphohistiocytosis (HLH) is a rare immune hyperactivation syndrome which may be primary (genetic) or secondary to various immune-related conditions including infection, immunodeficiency, and malignancies. Rapid diagnosis and treatment is essential as it can be associated with significant morbidity and mortality. Epstein-Barr virus (EBV) is a known infectious cause of acquired HLH, but EBV-associated HLH involving the central nervous system (CNS) is rare and not well characterized neuropathologically...
August 26, 2016: Human Pathology
Tania Berdichevski, Oranit Cohen-Ezra, Orit Pappo, Ziv Ben-Ari
AIM: Primary biliary cholangitis (PBC) is a chronic cholestatic liver disease, typically diagnosed by elevated cholestatic liver enzymes and a positive antimitochondrial antibody (AMA) test. The clinical significance of AMA positivity in patients with normal cholestatic liver enzymes is uncertain. METHODS: Charts of patients with normal cholestatic liver enzymes and AMA positivity who underwent liver biopsy between 2012 and 2015 were retrospectively analyzed. RESULTS: Six AMA-positive patients with normal cholestatic liver enzymes who underwent a liver biopsy were identified...
August 30, 2016: Hepatology Research: the Official Journal of the Japan Society of Hepatology
Ersan Ozaslan, Cumali Efe, Nihal Gokbulut Ozaslan
Autoimmune liver diseases are heterogenous disorders that share largely non-specific clinical, serological and pathological features. The correct diagnosis requires discriminative features which are highly specific, for example high-titer antimitochondrial antibodies (AMA) and florid duct lesion in primary biliary cholangitis (PBC). However, the imperfect sensitivities of these characteristic features and abuse of scoring systems led to many artificial diagnoses such as overlap syndromes and outliers for example "autoimmune cholangitis" which is now called as "AMA-negative PBC"...
August 23, 2016: Clinics and Research in Hepatology and Gastroenterology
Giacomo Rossitto, Diego Miotto, Michele Battistel, Giulio Barbiero, Giuseppe Maiolino, Valeria Bisogni, Viola Sanga, Gian Paolo Rossi
OBJECTIVE: As metoclopramide stimulates aldosterone secretion, we tested its usefulness in the assessment of lateralization of primary aldosteronism by adrenal vein sampling (AVS). DESIGN: Prospective within-patient study in consecutive patients undergoing AVS for primary aldosteronism subtyping. METHODS: We compared the diagnostic accuracy of baseline and postmetoclopramide lateralization index and relative (to cortisol) aldosterone secretion indices (RASI) for each adrenal gland with aldosterone-producing adenoma (APA) determined by the four corners criteria as the reference diagnosis...
November 2016: Journal of Hypertension
Devika Gupta, Ashutosh Rath, Khushi Ram Rathi, Giriraj Singh
Primary mediastinal seminomas are rare tumors. Morphologically, they can be associated with secondary changes in the form of thymic remnants, cystic change, epithelioid granulomas, abundant fibrosis, and syncytiotrophoblast like cells. Ours was an interesting case where a 17-year-old adolescent male presented with anterior mediastinal mass. Fine needle aspiration and trucut biopsy of the mass favored tuberculosis; however, he did not respond to antituberculosis treatment regime. He was subjected to video-assisted thoracoscopic surgery and the histopathological examination along with supportive immunohistochemistry of the mass revealed scattered seminoma cells which were being masked by extensive granulomatous reaction...
July 2016: Indian Journal of Pathology & Microbiology
Habib Khan, Sanjay Chaubey, Rynda Nitiahpapand, Jatin Desai
Cardiac involvement is rare in antineutrophil cytoplasmic autoantibody (ANCA)-associated systemic vasculitis but can involve aortic and mitral valves. We present an unusual case of a 65-year-old woman who presented 16 years after an aortic valve replacement with severe mitral regurgitation with ACNA-associated vasculitis. The extensive nature of the pathologic condition, which extended to the tricuspid valve, prevented the replacement of the mitral valve during a surgical procedure. This is a rare case in which florid valvulopathy was observed in association with vasculitis...
August 2016: Annals of Thoracic Surgery
Purnima S Kumar
The oral microbiome is established within a few minutes after birth and consists of stable multi-species communities that engage in a dynamic equilibrium with the host immune system. Dental caries, endodontic infections and periodontal diseases are bacterially driven diseases that are caused by dysbiotic microbiomes. Over a century ago, the focal infection theory implicated these infections in the aetiology of several systemic diseases, ranging from arthritis to neurodegenerative diseases. However, a lack of concrete evidence, combined with the urgency with which clinicians embraced this approach without regard for appropriate case selection, led to its demise within 30 years...
July 18, 2016: Journal of Physiology
Débora Lima Pereira, Fábio Ramôa Pires, Márcio Ajudarte Lopes, Román Carlos, John Marshal Wright, Paras Patel, Willie van Heerden, Andre Uys, Pablo Agustin Vargas
OBJECTIVE: The aim of this study was to correlate the clinical, demographic, and radiographic aspects of 82 cases of florid osseous dysplasia (FOD) from four countries assessed by five reviewers. STUDY DESIGN: Retrospective data of patients diagnosed with FOD were obtained from archives of five institutes and analyzed according to clinical and radiographic criteria. RESULTS: A total of 82 cases of FOD were included in the study. In the majority (77...
August 2016: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Tuğçe Özlem Kalaycı, Melike Bedel Koruyucu, Melda Apaydın, Demet Etit, Makbule Varer
BACKGROUND: Idiopathic granulomatous mastitis (IGM) is an uncommon benign chronic inflammatory breast disease, and erythema nodosum (EN) is an extremely rare systemic manifestation of IGM. Here, we report a rare case of IGM accompanied by EN. CASE REPORT: A 32-year-old patient was admitted to our clinic with a history of a tender mass in the right breast. On physical examination, the right breast contained a hard, tender mass in the lower half with indrawing of the nipple...
March 2016: Balkan Medical Journal
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