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https://www.readbyqxmd.com/read/28231462/the-complicated-relationship-between-gaucher-disease-and-parkinsonism-insights-from-a-rare-disease
#1
REVIEW
Elma Aflaki, Wendy Westbroek, Ellen Sidransky
The discovery of a link between mutations in GBA1, encoding the lysosomal enzyme glucocerebrosidase, and the synucleinopathies directly resulted from the clinical recognition of patients with Gaucher disease with parkinsonism. Mutations in GBA1 are now the most common known genetic risk factor for several Lewy body disorders, and an inverse relationship exists between levels of glucocerebrosidase and oligomeric α-synuclein. While the underlying mechanisms are still debated, this complicated association is shedding light on the role of lysosomes in neurodegenerative disorders, demonstrating how insights from a rare disorder can direct research into the pathogenesis and therapy of seemingly unrelated common diseases...
February 22, 2017: Neuron
https://www.readbyqxmd.com/read/28231455/synthetic-investigation-physicochemical-characterization-and-antibacterial-evaluation-of-ternary-bi-iii-systems-with-hydroxycarboxylic-acid-and-aromatic-chelator-substrates
#2
C M Nday, E Halevas, A Tsiaprazi-Stamou, D Eleftheriadou, A Hatzidimitriou, G Jackson, D Reid, A Salifoglou
Due to its physical and chemical properties, bismuth (Bi(III)) is widely used in the treatment of several gastrointestinal and skin diseases, and infections caused by bacteria. Herein, its known antimicrobial potential was taken into consideration in the synthesis of two new hybrid ternary materials of Bi(III) with the physiological α-hydroxycarboxylic glycolic acid and 1,10-phenanthroline (phen), [Bi2(C2H2O3)2(C2H3O3)(NO3)]n(.) nH2O (1) and [Bi(C12H8N2)(NO3)4](C10H8N4) (2), aiming at improving its antibacterial properties...
February 11, 2017: Journal of Inorganic Biochemistry
https://www.readbyqxmd.com/read/28231377/evidence-based-s3-guidelines-for-diagnostics-and-treatment-of-venous-leg-ulcers-answer-to-dr-bertolini
#3
Martino Neumann
The differential diagnosis of a leg ulcer is broad with a great variety of diseases. Beside the well known as venous, arterial, mixed and diabetic most are rare. Prolidase deficiency is one of the rare causes.Nether the less it is an excellent suggestion to add also genetic diseases as prolidae deficiency to this Guideline. The committee will take this for the next revision.Martino Neumann, on behalf of the redaction of the EADF Guideline Diagnosis and Treatment of Venous Leg Ulcers This article is protected by copyright...
February 23, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28231309/improving-molecular-diagnosis-of-aniridia-and-wagr-syndrome-using-customized-targeted-array-based-cgh
#4
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Here, we report the development and validation of a customized targeted array-based comparative genomic hybridization, so called WAGR-array, for comprehensive high-resolution analysis of CNV in the WAGR locus...
2017: PloS One
https://www.readbyqxmd.com/read/28231271/applying-antibody-sensitive-hypervariable-region-1-deleted-hepatitis-c-virus-to-the-study-of-escape-pathways-of-neutralizing-human-monoclonal-antibody-ar5a
#5
Rodrigo Velázquez-Moctezuma, Mansun Law, Jens Bukh, Jannick Prentoe
Hepatitis C virus (HCV) is a major cause of end-stage liver diseases. With 3-4 million new HCV infections yearly, a vaccine is urgently needed. A better understanding of virus escape from neutralizing antibodies and their corresponding epitopes are important for this effort. However, for viral isolates with high antibody resistance, or antibodies with moderate potency, it remains challenging to induce escape mutations in vitro. Here, as proof-of-concept, we used antibody-sensitive HVR1-deleted (ΔHVR1) viruses to generate escape mutants for a human monoclonal antibody, AR5A, targeting a rare cross-genotype conserved epitope...
February 23, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28231269/a-mouse-model-of-paralytic-myelitis-caused-by-enterovirus-d68
#6
Alison M Hixon, Guixia Yu, J Smith Leser, Shigeo Yagi, Penny Clarke, Charles Y Chiu, Kenneth L Tyler
In 2014, the United States experienced an epidemic of acute flaccid myelitis (AFM) cases in children coincident with a nationwide outbreak of enterovirus D68 (EV-D68) respiratory disease. Up to half of the 2014 AFM patients had EV-D68 RNA detected by RT-PCR in their respiratory secretions, although EV-D68 was only detected in cerebrospinal fluid (CSF) from one 2014 AFM patient. Given previously described molecular and epidemiologic associations between EV-D68 and AFM, we sought to develop an animal model by screening seven EV-D68 strains for the ability to induce neurological disease in neonatal mice...
February 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28231257/targeted-sequencing-identifies-a-novel-sh2d1a-pathogenic-variant-in-a-chinese-family-carrier-screening-and-prenatal-genetic-testing
#7
Jun-Yu Zhang, Song-Chang Chen, Yi-Yao Chen, Shu-Yuan Li, Lan-Lan Zhang, Ying-Hua Shen, Chun-Xin Chang, Yu-Qian Xiang, He-Feng Huang, Chen-Ming Xu
X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened for pathogenic variant because the proband sample was unavailable. We aimed to clarify the genetic diagnosis and provide prenatal testing for the family...
2017: PloS One
https://www.readbyqxmd.com/read/28230820/the-distribution-of-tp53-gene-polymorphisms-in-chronic-lymphocytic-leukemia-patients-sufferers-of-chornobyl-nuclear-power-plant-accident
#8
N I Bilous, I V Abramenko, A A Chumak, I S Dyagil, Z V Martina
: Previous analyses in a cohort of Chornobyl cleanup workers revealed significantly increased radiation-related risk for all leukemia types, including chronic lymphocytic leukemia (CLL). Numerous investigations emphasized the significance of genetic susceptibility to the radiation carcinogenesis. The aim of the work was to study the distribution of TP53 single nucleotide polymorphisms (SNPs) in CLL patients exposed to ionizing radiation (IR) due to Chornobyl nuclear power plant accident and estimate their impact on disease development...
December 2016: Experimental Oncology
https://www.readbyqxmd.com/read/28230715/a-multireferral-centre-retrospective-cohort-analysis-on-the-experience-in-treatment-of-metastatic-uveal-melanoma-and-utilization-of-sequential-liver-directed-treatment-and-immunotherapy
#9
Malinda Itchins, Paolo A Ascierto, Alexander M Menzies, Meredith Oatley, Serigne Lo, Dariush Douraghi-Zadeh, Timmothy Harrington, Richard Maher, Antonio M Grimaldi, Alexander Guminski
Metastatic uveal melanoma is a rare malignancy with a poor prognosis. To date, systemic therapy has been ineffective; however, there are few data on the benefits of anti-CTLA4 or anti-PD-1 antibodies in sequence with liver-directed therapy. A retrospective cohort analysis was carried out on 37 consecutive patients managed in a tertiary referral centre examining the safety and efficacy of treatment; patterns of care; and impact on survival. The sequential treatment with transarterial chemotherapy (TAC), systemic immunotherapy (IT) and systemic chemotherapy was reviewed...
February 22, 2017: Melanoma Research
https://www.readbyqxmd.com/read/28230175/cardiovascular-disease-in-africa-epidemiological-profile-and-challenges
#10
REVIEW
Ashley K Keates, Ana O Mocumbi, Mpiko Ntsekhe, Karen Sliwa, Simon Stewart
From a global perspective, the large and diverse African population is disproportionately affected by cardiovascular disease (CVD). The historical balance between communicable and noncommunicable pathways to CVD in different African regions is dependent on external factors over the life course and at a societal level. The future risk of noncommunicable forms of CVD (predominantly driven by increased rates of hypertension, smoking, and obesity) is a growing public health concern. The incidence of previously rare forms of CVD such as coronary artery disease will increase, in concert with historically prevalent forms of disease, such as rheumatic heart disease, that are yet to be optimally prevented or treated...
February 23, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28230171/impact-of-genetic-variation-on-human-camkk2-regulation-by-ca-2-calmodulin-and-multisite-phosphorylation
#11
Matthew T O'Brien, Jonathan S Oakhill, Naomi X Y Ling, Christopher G Langendorf, Ashfaqul Hoque, Toby A Dite, Anthony R Means, Bruce E Kemp, John W Scott
The Ca(2+)-calmodulin dependent protein kinase kinase-2 (CaMKK2) is a key regulator of neuronal function and whole-body energy metabolism. Elevated CaMKK2 activity is strongly associated with prostate and hepatic cancers, whereas reduced CaMKK2 activity has been linked to schizophrenia and bipolar disease in humans. Here we report the functional effects of nine rare-variant point mutations that were detected in large-scale human genetic studies and cancer tissues, all of which occur close to two regulatory phosphorylation sites and the catalytic site on human CaMKK2...
February 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28230086/classification-of-idiopathic-interstitial-pneumonias-using-anti-myxovirus-resistance-protein-1-autoantibody
#12
Yoshimasa Hamano, Hiroshi Kida, Shoichi Ihara, Akihiro Murakami, Masahiro Yanagawa, Ken Ueda, Osamu Honda, Lokesh P Tripathi, Toru Arai, Masaki Hirose, Toshimitsu Hamasaki, Yukihiro Yano, Tetsuya Kimura, Yasuhiro Kato, Hyota Takamatsu, Tomoyuki Otsuka, Toshiyuki Minami, Haruhiko Hirata, Koji Inoue, Izumi Nagatomo, Yoshito Takeda, Masahide Mori, Hiroyoshi Nishikawa, Kenji Mizuguchi, Takashi Kijima, Masanori Kitaichi, Noriyuki Tomiyama, Yoshikazu Inoue, Atsushi Kumanogoh
Chronic fibrosing idiopathic interstitial pneumonia (IIP) can be divided into two main types: idiopathic pulmonary fibrosis (IPF), a steroid-resistant and progressive disease with a median survival of 2-3 years, and idiopathic non-specific interstitial pneumonia (INSIP), a steroid-sensitive and non-progressive autoimmune disease. Although the clinical courses of these two diseases differ, they may be difficult to distinguish at diagnosis. We performed a comprehensive analysis of serum autoantibodies from patients definitively diagnosed with IPF, INSIP, autoimmune pulmonary alveolar proteinosis, and sarcoidosis...
February 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28229991/a-novel-mutation-in-the-pyrin-domain-of-the-nod-like-receptor-family-pyrin-domain-containing-protein-3-in-muckle-wells-syndrome
#13
Jian Hu, Yun Zhu, Jian-Zhong Zhang, Rong-Guang Zhang, Hou-Min Li
BACKGROUND: Cryopyrin-associated periodic syndrome (CAPS) is a group of rare, heterogeneous autoinflammatory disease characterized by interleukin (IL)-1β-mediated systemic inflammation and clinical symptoms involving skin, joints, central nervous system, and eyes. It encompasses a spectrum of three clinically overlapping autoinflammatory syndromes including familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease. CAPS is associated with gain-of-function missense mutations in NOD-like receptor family pyrin domain-containing protein 3 (NLRP3), the gene encoding NLRP3...
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28229632/redox-regulation-of-mitochondrial-functional-activity-by-quinones
#14
N G Krylova, T A Kulahava, V T Cheschevik, I K Dremza, G N Semenkova, I B Zavodnik
Quinones are among the rare compounds successfully used as therapeutic agents to correct mitochondrial diseases and as specific regulators of mitochondrial function within cells. The aim of the present study was to elucidate the redox-dependent effects of quinones on mitochondrial function. The functional parameters [respiratory activity, membrane potential, and reactive oxygen species (ROS) generation] of isolated rat liver mitochondria and mitochondria in intact cells were measured in the presence of eight exogenously applied quinones that differ in lipophilicity and one-electron reduction potential...
December 2016: Physiol Int
https://www.readbyqxmd.com/read/28229618/the-first-description-of-the-extended-spectrum-beta-lactamase-blashv-12-gene-in-a-salmonella-monophasic-typhimurium-strain-isolated-from-acute-gastroenteritis-in-a-kidney-transplant-recipient-in-southeast-spain
#15
José Antonio Aparicio-Gómez, Silvia Herrera-López, José Gutiérrez-Fernández
Acute gastroenteritis (AGE) is a common disease within the population. Most cases are self-limited. However, intensive treatment is sometimes necessary to ensure patient integrity. This disease is characterized by vomiting and/or diarrhea with blood or mucus, discomfort, fever, and nonspecific abdominal pain. Commonly involved pathogens in the developed world include: viruses, bacteria, and parasites. In this paper we report a rare cause of AGE.
February 23, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28229615/bacteremia-with-raoultella-planticola-in-the-setting-of-acute-pancreatitis-complicated-with-acute-cholangitis
#16
Esther Merino Rodríguez, Susana Rebolledo Olmedo, Joaquín Miquel Plaza
The bacterium Raoultella planticola (R planticola) is a rare pathogen in humans. We report a case of mild acute pancreatitis (MAP) of biliary origin with cholangitis and bacteremia with R planticola in association with pancreatic panniculitis (PP). A 55-year-old woman with rheumatic multiple valvulopathy presented with epigastric pain radiating to the back in a belt-like fashion for 48 hours, jaundice, choluria, acholia, and fever (38.2oC). Lab tests showed: amylase 2126 U/L, ALT 124 U/L, AST 169 U/L, GGT 3548 U/L, AP 1516 U/L, TBil 12...
February 23, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28229613/hemobilia-related-to-cystic-artery-pseudoaneurysm-as-a-cause-of-acute-pancreatitis
#17
Patricia Lozano-Cruz, Percy Arenas, Ignacio Moral
Hemobilia is a rare cause of upper gastrointestinal bleeding (UGIB). It is commonly iatrogenic, and is more rarely caused by tumors, lithiasis, and inflammatory or vascular disease. We describe a case of cystic artery pseudoaneurysm, which caused acute pancreatitis as an unusual complication.
February 23, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28229611/a-rare-acute-thoracic-manifestation-of-a-chronic-digestive-disease-pancreaticopleural-fistula
#18
Joana Carvalho E Branco, David Valadas Horta, Jorge Reis
Pancreaticopleural fistula is a rare complication of chronic pancreatitis. The diagnosis requires a high suspicion degree and its management frequently involves a multidisciplinary approach between gastroenterology and surgery.
February 23, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28229609/laparoscopic-treatment-of-hemorrhagic-meckel-diverticulum-after-diagnosis-with-wireless-capsule-endoscopy-and-double-balloon-enteroscopy
#19
Haibo Yu, Hongliang Song, Jing Cai
Meckel diverticulum (MD) is a common small intestinal malformation. The difficulty of MD with hemorrhage treatment lies in preoperative diagnosis. Wireless capsule endoscopy (WCE) and double-balloon enteroscopy (DBE) have been widely used to diagnose and treat diseases of the small intestine, but only rarely have they been used in combination to diagnose and treat bleeding MD. We successfully diagnosed and treated a patient with MD with hemorrhage with a combination of WCE, DBE, and laparoscopy. A 17-year-old man presented to the emergency room with hematochezia and was admitted for testing...
February 23, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28229565/calcifying-tendinitis-of-the-long-head-of-the-biceps-brachii-and-superior-labrum-a-report-of-one-case-and-literature-review
#20
Xing-He Xue, Zhen-Hua Feng, Zhen-Xing Li, Xiao-Yun Pan
INTRODUCTION: Calcifying tendinitis of the shoulder is characterized with the formation of the calcium deposits in tendon, which mostly involves supraspinatus. The formation of the calcium deposits may be related to the excessive mechanical stimulation and non-tenocytes generation from tendon stem cell. The disease is usually associated with pain, especially when activating the shoulder. MATERIALS AND METHODS: We describe one case of calcifying tendinitis involving the long head of the biceps brachii and superior labrum...
February 22, 2017: Journal of Sports Medicine and Physical Fitness
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