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Nature Reviews. Disease Primers

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https://www.readbyqxmd.com/read/30442957/bronchiectasis
#1
REVIEW
James D Chalmers, Anne B Chang, Sanjay H Chotirmall, Raja Dhar, Pamela J McShane
Bronchiectasis refers to abnormal dilatation of the bronchi. Airway dilatation can lead to failure of mucus clearance and increased risk of infection. Pathophysiological mechanisms of bronchiectasis include persistent bacterial infections, dysregulated immune responses, impaired mucociliary clearance and airway obstruction. These mechanisms can interact and self-perpetuate, leading over time to impaired lung function. Patients commonly present with productive cough and recurrent chest infections, and the diagnosis of bronchiectasis is based on clinical symptoms and radiological findings...
November 15, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30442937/bronchiectasis
#2
(no author information available yet)
No abstract text is available yet for this article.
November 15, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30410088/multiple-sclerosis
#3
(no author information available yet)
No abstract text is available yet for this article.
November 8, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30410033/multiple-sclerosis
#4
REVIEW
Massimo Filippi, Amit Bar-Or, Fredrik Piehl, Paolo Preziosa, Alessandra Solari, Sandra Vukusic, Maria A Rocca
Multiple sclerosis (MS) is the most common chronic inflammatory, demyelinating and neurodegenerative disease of the central nervous system in young adults. This disorder is a heterogeneous, multifactorial, immune-mediated disease that is influenced by both genetic and environmental factors. In most patients, reversible episodes of neurological dysfunction lasting several days or weeks characterize the initial stages of the disease (that is, clinically isolated syndrome and relapsing-remitting MS). Over time, irreversible clinical and cognitive deficits develop...
November 8, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30385748/gastroparesis
#5
(no author information available yet)
No abstract text is available yet for this article.
November 1, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30385743/gastroparesis
#6
REVIEW
Michael Camilleri, Victor Chedid, Alexander C Ford, Ken Haruma, Michael Horowitz, Karen L Jones, Phillip A Low, Seon-Young Park, Henry P Parkman, Vincenzo Stanghellini
Gastroparesis is a disorder characterized by delayed gastric emptying of solid food in the absence of a mechanical obstruction of the stomach, resulting in the cardinal symptoms of early satiety, postprandial fullness, nausea, vomiting, belching and bloating. Gastroparesis is now recognized as part of a broader spectrum of gastric neuromuscular dysfunction that includes impaired gastric accommodation. The overlap between upper gastrointestinal symptoms makes the distinction between gastroparesis and other disorders, such as functional dyspepsia, challenging...
November 1, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30374103/author-correction-%C3%AE-1-antitrypsin-deficiency
#7
Catherine M Greene, Stefan J Marciniak, Jeffrey Teckman, Ilaria Ferrarotti, Mark L Brantly, David A Lomas, James K Stoller, Noel G McElvaney
In Figure 6 of this article (PDF and HTML) the arrows labelled 'Depolymerization' and 'Polymerization' should be labelled 'Polymerization' and 'Depolymerization', respectively.
October 29, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30361521/systemic-immunoglobulin-light-chain-amyloidosis
#8
REVIEW
Giampaolo Merlini, Angela Dispenzieri, Vaishali Sanchorawala, Stefan O Schönland, Giovanni Palladini, Philip N Hawkins, Morie A Gertz
Systemic immunoglobulin light chain amyloidosis is a protein misfolding disease caused by the conversion of immunoglobulin light chains from their soluble functional states into highly organized amyloid fibrillar aggregates that lead to organ dysfunction. The disease is progressive and, accordingly, early diagnosis is vital to prevent irreversible organ damage, of which cardiac damage and renal damage predominate. The development of novel sensitive biomarkers and imaging technologies for the detection and quantification of organ involvement and damage is facilitating earlier diagnosis and improved evaluation of the efficacy of new and existing therapies...
October 25, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30361474/systemic-immunoglobulin-light-chain-amyloidosis
#9
(no author information available yet)
No abstract text is available yet for this article.
October 25, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30341354/author-correction-dystonia
#10
Bettina Balint, Niccolò E Mencacci, Enza Maria Valente, Antonio Pisani, John Rothwell, Joseph Jankovic, Marie Vidailhet, Kailash P Bhatia
The affiliation for Enza Maria Valente and Antonio Pisani at IRCCS Santa Lucia Foundation, Rome, Italy, has been amended to remove the laboratory designation. Additionally, in Figure 3a, the subthalamic nucleus was incorrectly included in the anatomy of the brain shown and this has been amended.
October 19, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30337566/author-correction-lysosomal-storage-diseases
#11
Frances M Platt, Alessandra d'Azzo, Beverly L Davidson, Elizabeth F Neufeld, Cynthia J Tifft
In the version of the article originally published, in Figure 2 and the accompanying legend, LIMP 2 was incorrectly referred to as LIMP 1. The article has now been corrected.
October 18, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30337541/abdominal-aortic-aneurysms
#12
(no author information available yet)
No abstract text is available yet for this article.
October 18, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30337540/abdominal-aortic-aneurysms
#13
REVIEW
Natzi Sakalihasan, Jean-Baptiste Michel, Athanasios Katsargyris, Helena Kuivaniemi, Jean-Olivier Defraigne, Alain Nchimi, Janet T Powell, Koichi Yoshimura, Rebecka Hultgren
An abdominal aortic aneurysm (AAA) is a localized dilatation of the infrarenal aorta. AAA is a multifactorial disease, and genetic and environmental factors play a part; smoking, male sex and a positive family history are the most important risk factors, and AAA is most common in men >65 years of age. AAA results from changes in the aortic wall structure, including thinning of the media and adventitia due to the loss of vascular smooth muscle cells and degradation of the extracellular matrix. If the mechanical stress of the blood pressure acting on the wall exceeds the wall strength, the AAA ruptures, causing life-threatening intra-abdominal haemorrhage - the mortality for patients with ruptured AAA is 65-85%...
October 18, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30323303/author-correction-hepatorenal-syndrome
#14
Pere Ginès, Elsa Solà, Paolo Angeli, Florence Wong, Mitra K Nadim, Patrick S Kamath
The original version of this article omitted an initial from the name of contributing author Patrick S. Kamath, who was listed as Patrick Kamath. The article has now been corrected.
October 15, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30310079/immune-mediated-neuropathies
#15
(no author information available yet)
No abstract text is available yet for this article.
October 11, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30310069/immune-mediated-neuropathies
#16
REVIEW
Bernd C Kieseier, Emily K Mathey, Claudia Sommer, Hans-Peter Hartung
Since the discovery of an acute monophasic paralysis, later coined Guillain-Barré syndrome, almost 100 years ago, and the discovery of chronic, steroid-responsive polyneuropathy 50 years ago, the spectrum of immune-mediated polyneuropathies has broadened, with various subtypes continuing to be identified, including chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and multifocal motor neuropathy (MMN). In general, these disorders are speculated to be caused by autoimmunity to proteins located at the node of Ranvier or components of myelin of peripheral nerves, although disease-associated autoantibodies have not been identified for all disorders...
October 11, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30291254/testicular-cancer
#17
(no author information available yet)
No abstract text is available yet for this article.
October 5, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30291251/testicular-cancer
#18
REVIEW
Liang Cheng, Peter Albers, Daniel M Berney, Darren R Feldman, Gedske Daugaard, Timothy Gilligan, Leendert H J Looijenga
Testicular cancer is the most common malignancy among men between 14 and 44 years of age, and its incidence has risen over the past two decades in Western countries. Both genetic and environmental factors contribute to the development of testicular cancer, for which cryptorchidism is the most common risk factor. Progress has been made in our understanding of the disease since the initial description of carcinoma in situ of the testis in 1972 (now referred to as germ cell neoplasia in situ), which has led to improved treatment options...
October 5, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30275475/lysosomal-storage-disorders
#19
(no author information available yet)
No abstract text is available yet for this article.
October 1, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/30275469/lysosomal-storage-diseases
#20
REVIEW
Frances M Platt, Alessandra d'Azzo, Beverly L Davidson, Elizabeth F Neufeld, Cynthia J Tifft
Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These disorders are individually rare but collectively affect 1 in 5,000 live births. LSDs typically present in infancy and childhood, although adult-onset forms also occur. Most LSDs have a progressive neurodegenerative clinical course, although symptoms in other organ systems are frequent. LSD-associated genes encode different lysosomal proteins, including lysosomal enzymes and lysosomal membrane proteins...
October 1, 2018: Nature Reviews. Disease Primers
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