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https://www.readbyqxmd.com/read/29053860/clinicopathological-correlations-in-behavioural-variant-frontotemporal-dementia
#1
David C Perry, Jesse A Brown, Katherine L Possin, Samir Datta, Andrew Trujillo, Anneliese Radke, Anna Karydas, John Kornak, Ana C Sias, Gil D Rabinovici, Maria Luisa Gorno-Tempini, Adam L Boxer, Mary De May, Katherine P Rankin, Virginia E Sturm, Suzee E Lee, Brandy R Matthews, Aimee W Kao, Keith A Vossel, Maria Carmela Tartaglia, Zachary A Miller, Sang Won Seo, Manu Sidhu, Stephanie E Gaus, Alissa L Nana, Jose Norberto S Vargas, Ji-Hye L Hwang, Rik Ossenkoppele, Alainna B Brown, Eric J Huang, Giovanni Coppola, Howard J Rosen, Daniel Geschwind, John Q Trojanowski, Lea T Grinberg, Joel H Kramer, Bruce L Miller, William W Seeley
Accurately predicting the underlying neuropathological diagnosis in patients with behavioural variant frontotemporal dementia (bvFTD) poses a daunting challenge for clinicians but will be critical for the success of disease-modifying therapies. We sought to improve pathological prediction by exploring clinicopathological correlations in a large bvFTD cohort. Among 438 patients in whom bvFTD was either the top or an alternative possible clinical diagnosis, 117 had available autopsy data, including 98 with a primary pathological diagnosis of frontotemporal lobar degeneration (FTLD), 15 with Alzheimer's disease, and four with amyotrophic lateral sclerosis who lacked neurodegenerative disease-related pathology outside of the motor system...
October 6, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053833/clinical-pathological-and-functional-characterization-of-riboflavin-responsive-neuropathy
#2
Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe H R Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James E C Jepson, Henry Houlden
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropathology and downstream consequences of riboflavin transporter mutations are unclear. By screening a large cohort of 132 patients with early-onset severe sensory, motor and cranial nerve neuropathy we confirmed the strong genetic link between riboflavin transporter mutations and Brown-Vialetto-Van Laere syndrome, identifying 22 pathogenic mutations in SLC52A2 and SLC52A3, 14 of which were novel...
September 26, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053824/chemogenetic-locus-coeruleus-activation-restores-reversal-learning-in-a-rat-model-of-alzheimer-s-disease
#3
Jacki M Rorabaugh, Termpanit Chalermpalanupap, Christian A Botz-Zapp, Vanessa M Fu, Natalie A Lembeck, Robert M Cohen, David Weinshenker
Clinical evidence suggests that aberrant tau accumulation in the locus coeruleus and noradrenergic dysfunction may be a critical early step in Alzheimer's disease progression. Yet, an accurate preclinical model of these phenotypes that includes early pretangle tau accrual in the locus coeruleus, loss of locus coeruleus innervation and deficits locus coeruleus/norepinephrine modulated behaviours, does not exist, hampering the identification of underlying mechanisms and the development of locus coeruleus-based therapies...
September 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053778/influence-of-cerebrovascular-disease-on-brain-networks-in-prodromal-and-clinical-alzheimer-s-disease
#4
Joanna Su Xian Chong, Siwei Liu, Yng Miin Loke, Saima Hilal, Mohammad Kamran Ikram, Xin Xu, Boon Yeow Tan, Narayanaswamy Venketasubramanian, Christopher Li-Hsian Chen, Juan Zhou
Network-sensitive neuroimaging methods have been used to characterize large-scale brain network degeneration in Alzheimer's disease and its prodrome. However, few studies have investigated the combined effect of Alzheimer's disease and cerebrovascular disease on brain network degeneration. Our study sought to examine the intrinsic functional connectivity and structural covariance network changes in 235 prodromal and clinical Alzheimer's disease patients with and without cerebrovascular disease. We focused particularly on two higher-order cognitive networks-the default mode network and the executive control network...
September 19, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053654/retrospective-analysis-of-jaw-biopsies-in-young-adults-a-study-of-1599-cases-in-southern-brazil
#5
K Silva, A Alves, M Correa, A Etges, A-C Vasconcelos, A-P Gomes, S Tarquinio
BACKGROUND: To evaluate the prevalence and the characteristics of jaw lesions diagnosed in young adults aged 20 to 30 years in a southern Brazil reference center, over a period of 25 years. And to analyze the concordance between clinical and histological diagnosis. MATERIAL AND METHODS: In this cross-sectional retrospective study, the biopsies files from this center were retrieved and data regarding sex, age, bone localization, clinical and histological diagnosis were collected...
October 20, 2017: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/29053652/a-report-on-the-clinical-pathological-correlations-of-788-gingival-lesion
#6
A Gambino, M Carbone, R Broccoletti, P Carcieri, D Conrotto, M Carrozzo, P-G Arduino
BACKGROUND: The diagnosis and treatment of a variety of non-plaque related gingival diseases have become an integrated aspect of everyday dentistry. The aim of this study was to analyse the relationship between clinical appearance and histopathological features of gingival lesions in a large Northern Italian population. MATERIAL AND METHODS: A retrospective study of 788 cases of gingival and alveolar mucosal biopsies was set up. Statistical analysis was performed by calculating the odds ratio and 95% confidence interval (C...
October 20, 2017: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/29053609/renal-cell-tumors-understanding-their-molecular-pathological-epidemiology-and-the-2016-who-classification
#7
REVIEW
Kentaro Inamura
Accumulating evidence suggests that renal cell tumors represent a group of histologically and molecularly heterogeneous diseases, even within the same histological subtype. In accordance with the increased understanding of the morphological, immunohistochemical, molecular, and epidemiological characteristics of renal cell tumors, the World Health Organization (WHO) classification of renal cell tumors has been modified. This review provides perspectives on both new and current subtypes of renal cell tumors, as well as on the emerging/provisional renal cell carcinomas in the new 2016 WHO classification, which focuses on features of their molecular pathological epidemiology...
October 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29053481/programmed-death-ligand-1-expression-among-700-consecutive-endometrial-cancers-strong-association-with-mismatch-repair-protein-deficiency
#8
Zaibo Li, Amy S Joehlin-Price, Jennifer Rhoades, Martins Ayoola-Adeola, Karin Miller, Anil V Parwani, Floor J Backes, Ashley S Felix, Adrian A Suarez
OBJECTIVE: This study aims to determine the prevalence of programmed death ligand 1 (PD-L1) expression in endometrial carcinoma (EC) and determine clinical and pathological associations. METHODS: Immunohistochemistry for PD-L1 was performed on sections of a triple-core tissue microarray of 700 ECs. Positive PD-L1 expression, defined as 1% of cells staining positive, was evaluated in tumor and stromal compartments. Using age-adjusted logistic regression, we estimated odds ratios and 95% confidence intervals for associations between PD-L1 expression (overall and by staining compartment) with clinical and tumor characteristics...
October 20, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29053424/l-carnitine-and-potential-protective-effects-against%C3%A2-ischemia-reperfusion-injury-in-noncardiac-organs-from-experimental-data-to-potential-clinical-applications
#9
Azadeh Moghaddas, Simin Dashti-Khavidaki
The mechanism of ischemia-reperfusion (I/R) injury is complex and multifactorial. In this condition, systemic event results in morbidity and mortality in several pathologies, including myocardial infarction, ischemic stroke, acute kidney injury, trauma, and circulatory arrest. Hypoxia over ischemia phase leads to energy imbalance and changes of cellular homeostasis and functional or structural alterations. In addition, during the reperfusion period, some events, including calcium influx, release of intracellular enzymes, and cell membrane integrity breakdown, cause cell death...
October 20, 2017: Journal of Dietary Supplements
https://www.readbyqxmd.com/read/29053402/what-are-we-missing-false-negative-cancers-at-multiparametric-mr-imaging-of-the-prostate
#10
Samuel Borofsky, Arvin K George, Sonia Gaur, Marcelino Bernardo, Matthew D Greer, Francesca V Mertan, Myles Taffel, Vanesa Moreno, Maria J Merino, Bradford J Wood, Peter A Pinto, Peter L Choyke, Baris Turkbey
Purpose To characterize clinically important prostate cancers missed at multiparametric (MP) magnetic resonance (MR) imaging. Materials and Methods The local institutional review board approved this HIPAA-compliant retrospective single-center study, which included 100 consecutive patients who had undergone MP MR imaging and subsequent radical prostatectomy. A genitourinary pathologist blinded to MP MR findings outlined prostate cancers on whole-mount pathology slices. Two readers correlated mapped lesions with reports of prospectively read MP MR images...
October 20, 2017: Radiology
https://www.readbyqxmd.com/read/29053249/holistic-lipidomics-of-the-human-gut-phenotype-using-validated-ultra-high-performance-liquid-chromatography-coupled-to-hybrid-orbitrap-mass-spectrometry
#11
Lieven Van Meulebroek, Ellen De Paepe, Vicky Vercruysse, Beata Pomian, Simon Bos, Bruno Lapauw, Lynn Vanhaecke
As lipids are assigned a plethora of biological functions, it is evident that a dysregulated lipid metabolism signifies a key element in many pathological conditions. With this rationale, this study presents a validated lipidomics platform to map the fecal lipidome, which integrates unique information about the host-gut microbiome interactions, gastrointestinal functionality, and dietary pattern. This particular method accomplished coverage across all eight lipid categories; the fatty acyls, glycerolipids, phosphoglycerolipids, polyketides, prenols, saccharolipids, sphingolipids, and sterols...
October 20, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/29053133/-ophthalmic-disorders-as-a-manifestation-of-parkinson-s-disease
#12
N B Chesnokova, T A Pavlenko, M V Ugrumov
Parkinson's disease is a severe neurodegenerative disease accompanied with the degeneration of dopaminergic neurons in the central and peripheral nervous system. The diagnosis of Parkinson's disease can still be made only on the stage of irreversible and nearly total degeneration of the nigrostriatum dopaminergic system and exhaustion of brain compensatory mechanisms that explains the low efficacy of therapy. Ophthalmic pathology is one of the nonmotor symptoms of Parkinson's disease. This can be explained firstly by the fact that eye is a 'peripheral part of brain' and secondly by the involvement of dopaminergic neurons (dopamine-producing cells) that are subject to the selective degeneration during Parkinson's disease in the regulation of visual function in the eye and brain...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29053116/-abdominal-pain-in-migraine-patients
#13
O V Serousova, M I Karpova, A I Dolgushina, A F Vasilenko, V V Markova, D Sh Altman
AIM: To study the frequency of comorbid abdominal pain in migraine patients and the influence of that symptom on the formation of disease phenotype. MATERIAL AND METHODS: Clinical features of migraine were studied in 66 patients with episodic migraine and 40 patients with chronic migraine. Presence of pain, intensity, duration of seizure-associated abdominal pain and interictal abdominal pain were assessed. RESULTS AND CONCLUSION: The frequency of abdominal pain in the painful phase of migraine was >11% and did not depend on the type of migraine...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29053103/ultrasound-functional-imaging-in-an-i-ex-vivo-i-beating-porcine-heart-platform
#14
Niels J Petterson, Louis S Fixsen, Marcel C M Rutten, Nico H J Pijls, Frans N van de Vosse, Richard G P Lopata
In recent years, novel ultrasound functional imaging (UFI) techniques have been introduced to assess cardiac function by measuring, e.g., cardiac output (CO) and/or myocardial strain. Verification and reproducibility assessment in a realistic setting remain major issues. Simulations and phantoms are often unrealistic, whereas in vivo measurements often lack crucial hemodynamic parameters or ground truth data, or suffer from the large physiological and clinical variation between patients when attempting clinical validation...
October 20, 2017: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/29053016/sudden-death-neurogenic-causes-prediction-and-prevention
#15
Nina Japundžić-Žigon, Olivera Šarenac, Maja Lozić, Marko Vasić, Tatjana Tasić, Dragana Bajić, Vladimir Kanjuh, David Murphy
Sudden death is a major health problem all over the world. The most common causes of sudden death are cardiac but there are also other causes such as neurological conditions (stroke, epileptic attacks and brain trauma), drugs, catecholamine toxicity, etc. A common feature of all these diverse pathologies underlying sudden death is the imbalance of the autonomic nervous system control of the cardiovascular system. This paper reviews different pathologies underlying sudden death with emphasis on the autonomic nervous system contribution, possibilities of early diagnosis and prognosis of sudden death using various clinical markers including autonomic markers (heart rate variability and baroreflex sensitivity), present possibilities of management and promising prevention by electrical neuromodulation...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/29052774/intrathoracic-tuberculous-lymphadenopathy-in-children-a-guide-to-chest-radiography
#16
REVIEW
Anthony George, Savvas Andronikou, Tanyia Pillay, Pierre Goussard, Heather J Zar
Making the diagnosis of pulmonary tuberculosis in children can be difficult because microbiological confirmation is not often achieved. Diagnosis is therefore often based on clinical features in combination with chest radiograph findings. Chest radiographs can demonstrate lymphadenopathy of the hilar and para-tracheal regions on the anteroposterior view, and subcarinal lymphadenopathy on the lateral view. However poor interobserver agreement has been reported for radiologist and clinician assessment of lymphadenopathy...
September 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/29052601/intratubular-amyloid-in-light-chain-cast-nephropathy-is-a-risk-factor-for-systemic-light-chain-amyloidosis
#17
Jean-Baptiste Gibier, Viviane Gnemmi, François Glowacki, Eileen M Boyle, Benjamin Lopez, Evelyne MacNamara, Maxime Hoffmann, Raymond Azar, Thomas Guincestre, Franck Bourdon, Marie-Christine Copin, David Buob
Light chain cast nephropathy is the most common form of kidney disease in patients with multiple myeloma. Light chain casts may occasionally show amyloid staining properties, that is, green birefringence after Congo red staining. The frequency and clinical significance of this intratubular amyloid are poorly understood. Here, we retrospectively assessed the clinicopathological features of 60 patients with histologically proven light chain cast nephropathy with a specific emphasis on intratubular amyloid, especially, its association with extrarenal systemic light chain amyloidosis...
October 20, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29052600/ultrasensitive-automated-rna-in-situ-hybridization-for-kappa-and-lambda-light-chain-mrna-detects-b-cell-clonality-in-tissue-biopsies-with-performance-comparable-or-superior-to-flow-cytometry
#18
Ling Guo, Zhen Wang, Courtney M Anderson, Emerald Doolittle, Siobhan Kernag, Claudiu V Cotta, Sarah L Ondrejka, Xiao-Jun Ma, James R Cook
The assessment of B-cell clonality is a critical component of the evaluation of suspected lymphoproliferative disorders, but analysis from formalin-fixed, paraffin-embedded tissues can be challenging if fresh tissue is not available for flow cytometry. Immunohistochemical and conventional bright field in situ hybridization stains for kappa and lambda are effective for evaluation of plasma cells but are often insufficiently sensitive to detect the much lower abundance of light chains present in B-cells. We describe an ultrasensitive RNA in situ hybridization assay that has been adapted for use on an automated immunohistochemistry platform and compare results with flow cytometry in 203 consecutive tissues and 104 consecutive bone marrows...
October 20, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29052596/t-6-11-renal-cell-carcinoma-a-study-of-seven-cases-including-two-with-aggressive-behavior-and-utility-of-cd68-pg-m1-in-the-differential-diagnosis-with-pure-epithelioid-pecoma-epithelioid-angiomyolipoma
#19
Anna Caliò, Matteo Brunelli, Diego Segala, Serena Pedron, Regina Tardanico, Andrea Remo, Stefano Gobbo, Emanuela Meneghelli, Claudio Doglioni, Ondrej Hes, Claudia Zampini, Pedram Argani, Guido Martignoni
Renal cell carcinomas with t(6;11) chromosome translocation involving the TFEB gene are indolent neoplasms which often occur in young patients. In this study, we report seven cases of renal cell carcinoma with TFEB rearrangement, two of whom had histologically proven metastasis. Patients (4F, 3M) ranged in age from 19 to 55 years (mean 37). One patient developed paratracheal and pleural metastases 24 months after surgery and died of disease after 46 months; another one recurred with neoplastic nodules in the perinephric fat and pelvic soft tissue...
October 20, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29052086/tissue-and-urinary-kim-1-relate-to-tumor-characteristics-in-patients-with-clear-renal-cell-carcinoma
#20
Mirjana Mijuskovic, Ivan Stanojevic, Novak Milovic, Snezana Cerovic, Dejan Petrovic, Djoko Maksic, Bozidar Kovacevic, Tamara Andjelic, Predrag Aleksic, Brankica Terzic, Mirjana Djukic, Danilo Vojvodic
The objective of this prospective follow-up trial was to ascertain whether the urinary kidney injury molecule-1 (uKIM-1) associates with tumor tissue (tKIM-1) expression and with the pathological characteristics of clear renal cell carcinoma (cRCC) in radically nephrectomized (RN) and/or in partially nephrectomized (PN) patients with cRCC, pre- and postoperatively. This clinical study included 40 patients subjected to RN/PN (cRCC group) and 30 healthy volunteers (control group). Urinary KIM-1 was determined by ELISA TIM-1/KIM-1 kit and normalized by urinary creatinine...
October 19, 2017: International Urology and Nephrology
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