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Nature Reviews. Disease Primers

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https://www.readbyqxmd.com/read/28516949/paroxysmal-nocturnal-haemoglobinuria
#1
REVIEW
Anita Hill, Amy E DeZern, Taroh Kinoshita, Robert A Brodsky
Paroxysmal nocturnal haemoglobinuria (PNH) is a clonal haematopoietic stem cell (HSC) disease that presents with haemolytic anaemia, thrombosis and smooth muscle dystonias, as well as bone marrow failure in some cases. PNH is caused by somatic mutations in PIGA (which encodes phosphatidylinositol N-acetylglucosaminyltransferase subunit A) in one or more HSC clones. The gene product of PIGA is required for the biosynthesis of glycosylphosphatidylinositol (GPI) anchors; thus, PIGA mutations lead to a deficiency of GPI-anchored proteins, such as complement decay-accelerating factor (also known as CD55) and CD59 glycoprotein (CD59), which are both complement inhibitors...
May 18, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28516948/paroxysmal-nocturnal-haemoglobinuria
#2
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
May 18, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28492232/pemphigus
#3
REVIEW
Michael Kasperkiewicz, Christoph T Ellebrecht, Hayato Takahashi, Jun Yamagami, Detlef Zillikens, Aimee S Payne, Masayuki Amagai
Pemphigus is a group of IgG-mediated autoimmune diseases of stratified squamous epithelia, such as the skin and oral mucosa, in which acantholysis (the loss of cell adhesion) causes blisters and erosions. Pemphigus has three major subtypes: pemphigus vulgaris, pemphigus foliaceus and paraneoplastic pemphigus. IgG autoantibodies are characteristically raised against desmoglein 1 and desmoglein 3, which are cell-cell adhesion molecules found in desmosomes. The sites of blister formation can be physiologically explained by the anti-desmoglein autoantibody profile and tissue-specific expression pattern of desmoglein isoforms...
May 11, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28492227/pemphigus
#4
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
May 11, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28470172/anxiety-disorders
#5
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
May 4, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28470168/anxiety-disorders
#6
REVIEW
Michelle G Craske, Murray B Stein, Thalia C Eley, Mohammed R Milad, Andrew Holmes, Ronald M Rapee, Hans-Ulrich Wittchen
Anxiety disorders constitute the largest group of mental disorders in most western societies and are a leading cause of disability. The essential features of anxiety disorders are excessive and enduring fear, anxiety or avoidance of perceived threats, and can also include panic attacks. Although the neurobiology of individual anxiety disorders is largely unknown, some generalizations have been identified for most disorders, such as alterations in the limbic system, dysfunction of the hypothalamic-pituitary-adrenal axis and genetic factors...
May 4, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28447611/traumatic-spinal-cord-injury
#7
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
April 27, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28447605/traumatic-spinal-cord-injury
#8
REVIEW
Christopher S Ahuja, Jefferson R Wilson, Satoshi Nori, Mark R N Kotter, Claudia Druschel, Armin Curt, Michael G Fehlings
Traumatic spinal cord injury (SCI) has devastating consequences for the physical, social and vocational well-being of patients. The demographic of SCIs is shifting such that an increasing proportion of older individuals are being affected. Pathophysiologically, the initial mechanical trauma (the primary injury) permeabilizes neurons and glia and initiates a secondary injury cascade that leads to progressive cell death and spinal cord damage over the subsequent weeks. Over time, the lesion remodels and is composed of cystic cavitations and a glial scar, both of which potently inhibit regeneration...
April 27, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28406148/bladder-cancer
#9
REVIEW
Oner Sanli, Jakub Dobruch, Margaret A Knowles, Maximilian Burger, Mehrdad Alemozaffar, Matthew E Nielsen, Yair Lotan
Bladder cancer is a highly prevalent disease and is associated with substantial morbidity, mortality and cost. Environmental or occupational exposures to carcinogens, especially tobacco, are the main risk factors for bladder cancer. Most bladder cancers are diagnosed after patients present with macroscopic haematuria, and cases are confirmed after transurethral resection of bladder tumour (TURBT), which also serves as the first stage of treatment. Bladder cancer develops via two distinct pathways, giving rise to non-muscle-invasive papillary tumours and non-papillary (solid) muscle-invasive tumours...
April 13, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28406137/bladder-cancer
#10
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
April 13, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28382967/thrombotic-thrombocytopenic-purpura
#11
REVIEW
Johanna A Kremer Hovinga, Paul Coppo, Bernhard Lämmle, Joel L Moake, Toshiyuki Miyata, Karen Vanhoorelbeke
Thrombotic thrombocytopenic purpura (TTP; also known as Moschcowitz disease) is characterized by the concomitant occurrence of often severe thrombocytopenia, microangiopathic haemolytic anaemia and a variable degree of ischaemic organ damage, particularly affecting the brain, heart and kidneys. Acute TTP was almost universally fatal until the introduction of plasma therapy, which improved survival from <10% to 80-90%. However, patients who survive an acute episode are at high risk of relapse and of long-term morbidity...
April 6, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28381866/thrombotic-thrombocytopenic-purpura
#12
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
April 6, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28358037/type-1-diabetes-mellitus
#13
REVIEW
Anastasia Katsarou, Soffia Gudbjörnsdottir, Araz Rawshani, Dana Dabelea, Ezio Bonifacio, Barbara J Anderson, Laura M Jacobsen, Desmond A Schatz, Åke Lernmark
Type 1 diabetes mellitus (T1DM), also known as autoimmune diabetes, is a chronic disease characterized by insulin deficiency due to pancreatic β-cell loss and leads to hyperglycaemia. Although the age of symptomatic onset is usually during childhood or adolescence, symptoms can sometimes develop much later. Although the aetiology of T1DM is not completely understood, the pathogenesis of the disease is thought to involve T cell-mediated destruction of β-cells. Islet-targeting autoantibodies that target insulin, 65 kDa glutamic acid decarboxylase, insulinoma-associated protein 2 and zinc transporter 8 - all of which are proteins associated with secretory granules in β-cells - are biomarkers of T1DM-associated autoimmunity that are found months to years before symptom onset, and can be used to identify and study individuals who are at risk of developing T1DM...
March 30, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28356557/type-1-diabetes-mellitus
#14
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
March 30, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28332489/parkinson-disease
#15
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
March 23, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28332488/parkinson-disease
#16
REVIEW
Werner Poewe, Klaus Seppi, Caroline M Tanner, Glenda M Halliday, Patrik Brundin, Jens Volkmann, Anette-Eleonore Schrag, Anthony E Lang
Parkinson disease is the second-most common neurodegenerative disorder that affects 2-3% of the population ≥65 years of age. Neuronal loss in the substantia nigra, which causes striatal dopamine deficiency, and intracellular inclusions containing aggregates of α-synuclein are the neuropathological hallmarks of Parkinson disease. Multiple other cell types throughout the central and peripheral autonomic nervous system are also involved, probably from early disease onwards. Although clinical diagnosis relies on the presence of bradykinesia and other cardinal motor features, Parkinson disease is associated with many non-motor symptoms that add to overall disability...
March 23, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28300188/alopecia-areata
#17
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
March 16, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28300084/alopecia-areata
#18
REVIEW
C Herbert Pratt, Lloyd E King, Andrew G Messenger, Angela M Christiano, John P Sundberg
Alopecia areata is an autoimmune disorder characterized by transient, non-scarring hair loss and preservation of the hair follicle. Hair loss can take many forms ranging from loss in well-defined patches to diffuse or total hair loss, which can affect all hair-bearing sites. Patchy alopecia areata affecting the scalp is the most common type. Alopecia areata affects nearly 2% of the general population at some point during their lifetime. Skin biopsies of affected skin show a lymphocytic infiltrate in and around the bulb or the lower part of the hair follicle in the anagen (hair growth) phase...
March 16, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28276444/renal-cell-carcinoma
#19
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
March 9, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28276433/renal-cell-carcinoma
#20
REVIEW
James J Hsieh, Mark P Purdue, Sabina Signoretti, Charles Swanton, Laurence Albiges, Manuela Schmidinger, Daniel Y Heng, James Larkin, Vincenzo Ficarra
Renal cell carcinoma (RCC) denotes cancer originated from the renal epithelium and accounts for >90% of cancers in the kidney. The disease encompasses >10 histological and molecular subtypes, of which clear cell RCC (ccRCC) is most common and accounts for most cancer-related deaths. Although somatic VHL mutations have been described for some time, more-recent cancer genomic studies have identified mutations in epigenetic regulatory genes and demonstrated marked intra-tumour heterogeneity, which could have prognostic, predictive and therapeutic relevance...
March 9, 2017: Nature Reviews. Disease Primers
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