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https://www.readbyqxmd.com/read/29790198/the-role-of-lysosomes-and-autophagosomes-in-frontotemporal-lobar-degeneration
#1
Hamish Dc Bain, Yvonne S Davidson, Andrew C Robinson, Sarah Ryan, Sara Rollinson, Anna Richardson, Matthew Jones, Julie S Snowden, Stuart Pickering-Brown, David M A Mann
INTRODUCTION: Cell biological and genetic evidence implicates failures in degrading aggregating proteins, such as tau and TDP-43, through autophagy or lysosomal pathways in the pathogenesis of Frontotemporal Lobar degeneration (FTLD). METHODS: We investigated changes in degradative pathways in 60 patients with different pathological or genetic forms of FTLD employing immunohistochemistry for marker proteins such as Lysosomal Associated Membrane Proteins 1 (LAMP-1) and 2 (LAMP-2), Cathepsin D (CTSD) and microtubule-associated protein 1 light chain 3 alpha (LC3A)...
May 23, 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29788873/one-molecule-many-targets-and-numerous-effects-the-pleiotropy-of-curcumin-lies-in-its-chemical-structure
#2
Mahdi Hatamipour, Thomas P Johnston, Amirhossein Sahebkar
Curcumin quite possibly represents one of the most diverse therapeutic agents yet isolated from natural sources. Therapeutic benefits of this extraordinary natural compound have been demonstrated during treatment of a variety of diseases, including cancer, inflammatory processes, immunological disorders, diabetes, and oxidative stress often associated with hyperlipidemia. Due to its unique molecular chemical structure and functional groups, curcumin may bind with and subsequently either inhibit or activate a variety of endogenous biomolecules, including enzymes, receptors, signaling molecules, metals, transcription factors, and even certain proteins located in cell membranes...
May 21, 2018: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29778603/interrogating-the-dimerization-interface-of-the-prion-protein-via-site-specific-mutations-to-p-benzoyl-l-phenylalanine
#3
Sudheer Babu Sangeetham, Krisztina Huszár, Petra Bencsura, Antal Nyeste, Éva Hunyadi-Gulyás, Elfrieda Fodor, Ervin Welker
Transmissible spongiform encephalopathies are centered on the conformational transition of the prion protein from a mainly helical, monomeric structure to a β-sheet rich ordered aggregate. Experiments indicate that the main infectious and toxic species in this process are however shorter oligomers, formation of which from the monomers is yet enigmatic. Here, we created 25 variants of the mouse prion protein site-specifically containing one genetically-incorporated para-benzoyl-phenylalanine (pBpa), a cross-linkable non-natural amino acid, in order to interrogate the interface of a prion protein-dimer, which might lie on the pathway of oligomerization...
May 17, 2018: Journal of Molecular Biology
https://www.readbyqxmd.com/read/29768973/myasthenia-gravis-appearing-after-thymectomy-heralding-recurrent-thymoma
#4
Paul A J Beckers, Rudy Mercelis, Stijn Heyman, Lies Verheuen, Patrick Lauwers, Jeroen M Hendriks, Paul E Van Schil
INTRODUCTION: Thirty to fifty percent of thymoma patients develop myasthenia gravis (MG). In 1.5-28% of cases, MG appears many years after removal of a thymoma. PATIENTS AND METHODS: We present a case report of a 72-year-old female who presented with MG four months after total thymectomy. RESULTS: A 72-year-old female patient presents with MG four months after total thymectomy. Imaging revealed a PET-positive nodule anterior to the superior vena cava...
May 17, 2018: Acta Chirurgica Belgica
https://www.readbyqxmd.com/read/29737432/assessment-of-sudomotor-function
#5
REVIEW
Sylvia J Buchmann, Ana Isabel Penzlin, Marie Luise Kubasch, Ben Min-Woo Illigens, Timo Siepmann
PURPOSE: To review the currently available literature on clinical autonomic tests of sudomotor function. METHODS: We searched PubMED/MEDLINE for articles on technical principles and clinical applications of sudomotor tests with a focus on their drawbacks and perspectives in order to provide a narrative review. RESULTS: The quantitative sudomotor axon reflex sweat test (QSART) is the most widely used test of sudomotor function. The technique captures pathology with low intra- and inter-subject variability but is limited by technical demands...
May 8, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/29721324/the-diversity-of-myeloid-immune-cells-shaping-wound-repair-and-fibrosis-in-the-lung
#6
REVIEW
Laura Florez-Sampedro, Shanshan Song, Barbro N Melgert
In healthy circumstances the immune system coordinates tissue repair responses in a tight balance that entails efficient inflammation for removal of potential threats, proper wound closure, and regeneration to regain tissue function. Pathological conditions, continuous exposure to noxious agents, and even ageing can dysregulate immune responses after injury. This dysregulation can lead to a chronic repair mechanism known as fibrosis. Alterations in wound healing can occur in many organs, but our focus lies with the lung as it requires highly regulated immune and repair responses with its continuous exposure to airborne threats...
March 2018: Regeneration
https://www.readbyqxmd.com/read/29717339/inverted-nipple-treatment-and-poliglecaprone-spacer
#7
Lidia Dessena, Sandy Dast, Simon Perez, Razvan Mercut, Christian Herlin, Raphael Sinna
INTRODUCTION: Nipple inversion is defined as a non-projectile nipple. It is a frequent pathologic condition, in which the whole nipple, or a portion of its, is buried inward towards the lactiferous duct and lies below the plane of the areola. Numerous strategies have been described to correct nipple inversion. All the procedures have the purpose to give a good shape to the nipple, preserving its function and sensitivity, when it is possible. To avoid recurrences and to obtain good aesthetic results, we present a modified percutaneous technique...
May 1, 2018: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/29707568/current-concepts-of-neurodegenerative-mechanisms-in-alzheimer-s-disease
#8
REVIEW
Kasthuri Bai Magalingam, Ammu Radhakrishnan, Ng Shee Ping, Nagaraja Haleagrahara
Neurodegenerative diseases are hereditary or sporadic conditions that result in the progressive loss of the structure and function of neurons as well as neuronal death. Although a range of diseases lie under this umbrella term, Alzheimer's disease (AD) and Parkinson's disease (PD) are the most common neurodegenerative diseases that affect a large population around the globe. Alzheimer's disease is characterized by the abnormal accumulation of extracellular amyloid- β plaques and intraneuronal neurofibrillary tangles in brain regions and manifests as a type of dementia in aged individuals that results in memory loss, multiple cognitive abnormalities, and intellectual disabilities that interfere with quality of life...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29704648/shades-of-white-diffusion-properties-of-t1-and-flair-defined-white-matter-signal-abnormalities-differ-in-stages-from-cognitively-normal-to-dementia
#9
Joost M Riphagen, Ed Hbm Gronenschild, David H Salat, Whitney M Freeze, Dimo Ivanov, Lies Clerx, Frans R J Verhey, Pauline Aalten, Heidi I L Jacobs
The underlying pathology of white matter signal abnormalities (WMSAs) is heterogeneous and may vary dependent on the magnetic resonance imaging contrast used to define them. We investigated differences in white matter diffusivity as an indicator for white matter integrity underlying WMSA based on T1-weighted and fluid-attenuated inversion recovery (FLAIR) imaging contrast. In addition, we investigated which white matter region of interest (ROI) could predict clinical diagnosis best using diffusion metrics. One hundred three older individuals with varying cognitive impairment levels were included and underwent neuroimaging...
April 5, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29679838/medico-legal-investigation-in-an-explicable-case-of-congenital-central-hypoventilation-syndrome-due-to-a-rare-variant-of-the-phox2b-gene
#10
Francesco Ventura, Rosario Barranco, Tiziana Bachetti, Paolo Nozza, Ezio Fulcheri, Antonella Palmieri, Isabella Ceccherini
The heterozygous PHOX2B gene mutation is related to congenital central hypoventilation syndrome (CCHS). It is characterized by defective autonomous nervous system development leading to inadequate breathing response to hypoxia and hypercapnia, leading to hypoventilation especially during non-REM sleep, but also during waking in the more severe cases. Herein we report a case of sudden death in a 28-day-old child. The mother reported the infant was found lying on her own bed in the prone position. The infant was wearing a romper and lying in her crib without any blanket or other objects...
April 17, 2018: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/29678670/etiology-of-type-2-diabetes-and-alzheimer-s-disease-exploring-the-mitochondria
#11
REVIEW
Talisa K Silzer, Nicole R Phillips
Type 2 diabetes is a significant risk factor for developing Alzheimer's disease later in life, and particular populations have a disproportionate risk because of the high prevalence of type 2 diabetes. There are many overlapping pathologies, and teasing out the primary root cause, if one indeed exists, is very difficult. Here, we review (1) the key facets of mitochondrial biology that are relevant to the two conditions, and (2) the role that mitochondrial dysfunction plays in the shared pathophysiology. We posit that mitochondrial dysfunction lies at the root of the affected processes rather than alongside them as a co-pathology...
April 17, 2018: Mitochondrion
https://www.readbyqxmd.com/read/29661566/lichen-planopilaris-and-frontal-fibrosing-alopecia-as-model-epithelial-stem-cell-diseases
#12
REVIEW
Matthew J Harries, Francisco Jimenez, Ander Izeta, Jonathan Hardman, Sreejith Parameswara Panicker, Enrique Poblet, Ralf Paus
Inflammation-associated, irreversible damage to epithelial stem cells (eSCs) of the hair follicle in their immunologically privileged niche lies at the heart of scarring alopecia, which causes permanent difficult-to-treat hair loss. We propose that the two most common and closely related forms, lichen planopilaris (LPP) and frontal fibrosing alopecia (FFA), provide excellent model diseases for studying the biology and pathology of adult human eSCs in an easily accessible human mini-organ. Emphasising the critical roles for interferon (IFN)-γ and peroxisome proliferator-activated receptor (PPAR)-γ-mediated signalling in immune privilege (IP) collapse and epithelial-mesenchymal transition (EMT) of these eSCs respectively, we argue that these pathways deserve therapeutic targeting in the future management of LPP/FFA and other eSC diseases associated with IP collapse and EMT...
May 2018: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/29624867/cell-autonomous-astrocytopathy-in-alzheimer-s-disease
#13
EDITORIAL
Alexej Verkhratsky, José Julio Rodríguez
Neurono-centric doctrine, which regards neurones as the main and the only substrate of pathological evolution, lies at the very core of philosophy of neurology; the neurono-centricity defines, to a very large extend, the therapeutic strategies and search for new pharmacological treatments. Pathological responses of the neuroglia are commonly thought to be secondary, which is highlighted in the concept of glial reactivity that is universally considered as a generalised and non-specific cellular riposte to any form of an insult to the nervous system...
April 6, 2018: Acta Physiologica
https://www.readbyqxmd.com/read/29584533/rehabilitation-exercises-for-the-gluteus-minimus-muscle-segments-an-electromyography-study
#14
Damien Moore, Adam I Semciw, Jodie McClelland, Henry Wajswelner, Tania Pizzari
CONTEXT: The gluteus minimus (GMin) muscle consists of two uniquely oriented segments that have potential for independent function, and have different responses to pathology and ageing. For healthy, young adults it is unknown which rehabilitation exercises specifically target the individual segments. OBJECTIVE: To quantify segmental GMin activity for six common lower limb rehabilitation exercises in healthy young adults, and determine if significant differences exist in segmental activity levels between the exercises...
March 27, 2018: Journal of Sport Rehabilitation
https://www.readbyqxmd.com/read/29572166/the-effects-of-n-terminal-mutations-on-%C3%AE-amyloid-peptide-aggregation-and-toxicity
#15
B V Foroutanpay, J Kumar, S G Kang, N Danaei, D Westaway, V L Sim, S Kar
Human amyloidβ1-42 (hAβ1-42) peptides are known to self-aggregate into oligomers that contribute to the degeneration of neurons and development of Alzheimer's disease (AD) pathology. Unlike humans, rodents do not develop AD, possibly due to differences in three amino acids (R5G, Y10F and H13R) within the hydrophilic N-terminal domain of Aβ1-42. This is partly supported by evidence that hAβ1-42 is more prone to fibrillization and has a higher cellular toxicity than rodent Aβ1-42 (rAβ1-42). Mutagenesis studies, however, have shown that correlation between fibrillization potential and toxicity is not always direct...
March 20, 2018: Neuroscience
https://www.readbyqxmd.com/read/29566916/diagnostic-challenges-in-the-mature-patient-growing-old-gracefully
#16
Laura Atzori, Caterina Ferreli, Franco Rongioletti
Skin diseases in the elderly are frequent and sometimes misleading, due to age-related changes that alter the clinical presentation. Clinicopathologic correlation is often the clue for distinguishing among various pathologies for which clinical signs are more striking than the histopathologic findings. Pitfalls are always lying in wait to ambush inexperienced dermatologists, but usually the microscope provides subtle hints to solve the quandary. In an attempt to familiarize physicians with emerging skin care demands of older patients, we have reviewed major diagnostic challenges in this group of patients: age-related changes, more common skin pathologies in mature patients, manifestations of comorbidity, skin tumors, and paraneoplastic syndromes...
March 2018: Clinics in Dermatology
https://www.readbyqxmd.com/read/29555421/neurodegenerative-diseases-infectious-pathologies-and-liquid-crystals-hypothesis-of-a-common-information-vector-involving-a-multidisciplinary-approach
#17
C Binot, C-H Chouard
The existence of an information vector common to very different pathologies is the hypothesis of one of us, the argumentation and discussion of which we present here. It is a mesomorphic state of material called liquid crystal. The liquid-ordered (Lo) phase, made up of membrane rafts mediated by cholesterol, lies at the center of our concept. This mesophase is either preexistent and then modified by the pathogenic process, or initiated by the latter. The most notable disorders involved are Alzheimer's, Parkinson's, Charcot and Creutzfeldt-Jakob diseases, flu-like illnesses and acquired immunodeficiency syndrome (AIDS), although this list may well be extended to include other anisotropic, birefringent amyloid proteinopathies, which have properties compatible with those of liquid crystals...
March 17, 2018: Revue Neurologique
https://www.readbyqxmd.com/read/29552518/treatment-of-pulmonary-nodule-from-vats-to-rats
#18
Federico Davini, Sara Ricciardi, Carmelina Cristina Zirafa, Ilenia Cavaliere, Gaetano Romano, Franca Melfi
Background: The incidental detection of solitary pulmonary nodule (SPN) is currently increasing due to the widespread use of computed tomography (CT) during the follow up in oncological patients or in screening trials. A quick and definitive histological diagnosis of these nodes is mandatory as, in case of primitive lung cancer, an early detection could improve both surgical results and prognosis. The minimally invasive pulmonary resection (MIPR) is the gold standard procedure for diagnosis and treatment of small lung nodules, but it can be difficult to localize deep nonpalpable nodes that lie in the lung parenchyma...
2018: Journal of Visualized Surgery
https://www.readbyqxmd.com/read/29549466/within-patient-fluctuation-of-brain-volume-estimates-from-short-term-repeated-mri-measurements-using-siena-fsl
#19
Roland Opfer, Ann-Christin Ostwaldt, Christine Walker-Egger, Praveena Manogaran, Maria Pia Sormani, Nicola De Stefano, Sven Schippling
BACKGROUND: Measurements of brain volume loss (BVL) in individual patients are currently discussed controversially. One concern is the impact of short-term biological noise, like hydration status. METHODS: Three publicly available reliability MRI datasets with scan intervals of days to weeks were used. An additional cohort of 60 early relapsing multiple sclerosis (MS) patients with MRI follow-ups was analyzed to test whether after 1 year pathological BVL is detectable in a relevant fraction of MS patients...
May 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29540098/does-bicep-pathology-affect-rotator-cuff-repair-outcomes
#20
Mak Wai Keong, Denny Lie Tijauw Tjoen
INTRODUCTION: Rotator cuff (RC) tears are common and a frequent cause of dysfunction in the shoulder, especially with progression of age. Biceps pathology occurs concomitantly and its relationship with RC tears has been well described. However, the study of biceps intervention affecting outcomes of RC repair is limited. We aim to study the effect of biceps tenotomy in RC repair after matching for cuff tear size. METHODS: We collected data of 24 consecutive patients undergoing RC repair and biceps tenotomy and matched them with patients undergoing RC repair only ( n = 24)...
January 2018: Journal of Orthopaedic Surgery
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