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https://www.readbyqxmd.com/read/28343355/anti-c1q-autoantibodies-as-markers-of-renal-involvement-in-childhood-onset-systemic-lupus-erythematosus
#1
Cécile Picard, Jean-Christophe Lega, Bruno Ranchin, Pierre Cochat, Natalia Cabrera, Nicole Fabien, Alexandre Belot
BACKGROUND: Childhood-onset systemic lupus erythematosus (cSLE) is rare, and considered more severe than its adult-onset counterpart. Lupus nephritis (LN) occurs more frequently in children, accounting for higher long-term morbidity and mortality compared with adults. Thus, reliable biological markers are needed to predict disease course. This study aimed to investigate the capacity of anti-C1q autoantibodies (Abs) to predict renal flare and global disease activity in cSLE patients, and association with disease activity and kidney involvement...
March 25, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28343313/spontaneous-cervical-intradural-disc-herniation-presenting-with-brown-s%C3%A3-quard-and-horner-s-syndrome-lesson-learned-from-a-very-unique-case
#2
Irene Baudracco, Gordan Grahovac, Vittorio M Russo
PURPOSE: Cervical spontaneous intradural disc herniation (IDH) is an extremely rare condition. We describe a unique case of a patient presenting with a Brown-Séquard syndrome (BSS) and Horner's syndrome (HS). This study aimed to report an unusual case of spontaneous cervical intradural disc herniation that presented with Horner's and Brown-Séquard syndrome (BSS) and discuss difficulties in preoperative diagnosis and treatment difficulties of intradural cervical disc. METHODS: Notes and images review, and analysis of the relevant literature...
March 25, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28343230/idiopathic-pulmonary-fibrosis-in-switzerland-diagnosis-and-treatment
#3
Manuela Funke-Chambour, Andrea Azzola, Dan Adler, Constance Barazzone-Argiroffo, Christian Benden, Annette Boehler, Pierre-Olivier Bridevaux, Martin Brutsche, Christian F Clarenbach, Katrin Hostettler, Rebekka Kleiner-Finger, Laurent P Nicod, Paola M Soccal, Michael Tamm, Thomas Geiser, Romain Lazor
Idiopathic pulmonary fibrosis (IPF) is a severe progressive and irreversible lung disease. Novel antifibrotic drugs that slow disease progression are now available. However, many issues regarding patient management remain unanswered, such as the choice between available drugs, their use in particular subgroups and clinical situations, time of treatment onset, termination, combination or switch, or nonpharmacologic management. To guide Swiss respiratory physicians in this evolving field still characterized by numerous areas of uncertainty, the Swiss Working Group for interstitial and rare lung diseases of the Swiss Respiratory Society provides a position paper on the diagnosis and treatment of IPF...
March 25, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28343211/-rare-case-of-slowly-progressing-lung-cancer-with-colon-metastases
#4
Katarzyna Krawczak, Bożenna Karczmarek-Borowska, Maciąg Maciąg, Wiesław Guz
Lung cancer is one of the most frequent cancers in the world and the fist cause of death of neoplastic origin. In half of patients at the time of diagnosis distant metastases are determined. Most frequent localizations are bones, liver, brain and adrenal glands. In described case there was documented slow, long-term development of lung adenocarcinoma. After initial diagnosis the patient remained without treatment for three years. Aside from slow progression of the disease the fact of asymptomatic metastases to the colon as a very rare localization should draw attention...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28343013/inflammatory-muscle-disease-a-new-landscape
#5
Alain Meyer, Béatrice Lannes, Joëlle Goetz, Andoni Echaniz-Laguna, Dan Lipsker, Laurent Arnaud, Thierry Martin, Jacques Eric Gottenberg, Bernard Geny, Jean Sibilia
Greater accuracy in clinical descriptions combined with advances in muscle histology and immunology have established that inflammatory muscle diseases (IMDs) resemble inflammatory joint diseases in that they constitute a highly heterogeneous group of conditions. The topographic distribution, severity, and tempo of onset vary widely, and the histological findings distinguish at least five different profiles, which may reflect different pathophysiological processes. Most IMDs are connective tissue diseases that can affect multiple organs, among which the most common targets are the skin, joints, and lungs...
March 22, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28342811/myeloid-sarcoma-presentation-diagnosis-and-treatment
#6
REVIEW
L Max Almond, Maria Charalampakis, Samuel J Ford, David Gourevitch, Anant Desai
Myeloid sarcoma is an extramedullary tumor of immature granulocytic cells. It is a rare condition, most often associated with acute myeloid leukemia (AML), although in some rare cases it may present in nonleukemic patients. It should therefore be considered as a differential diagnosis of any atypical cellular infiltrate. It may occur at any site, leading to very varied clinical presentations. Diagnosis is challenging and relies on a high index of suspicion as well as radiology, histology, immunophenotyping, and molecular analyses, which also are essential for risk stratification and treatment planning...
March 7, 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/28342640/systematic-review-links-the-prevalence-of-intraductal-carcinoma-of-the-prostate-to-prostate-cancer-risk-categories
#7
Laura H Porter, Mitchell G Lawrence, Dragan Ilic, David Clouston, Damien M Bolton, Mark Frydenberg, Declan G Murphy, Carmel Pezaro, Gail P Risbridger, Renea A Taylor
Intraductal carcinoma of the prostate (IDC-P) is associated with poor prognosis. While it is often regarded as a rare pathology, the prevalence of IDC-P remains unclear, with variable reports from small and disparate patient populations. To determine how common IDC-P is across the spectrum of prostate cancer, we conducted a systematic review correlating IDC-P prevalence with prostate cancer risk. Electronic searches of the OVID Medline, PubMed, and Scopus literature databases identified 38 patient cohorts in 24 articles, which were divided between four prostate cancer risk categories (low, moderate, high, and recurrent or metastatic disease)...
March 22, 2017: European Urology
https://www.readbyqxmd.com/read/28342533/eosinophilic-dermatosis-of-hematologic-malignancy
#8
S Lucas-Truyols, B Rodrigo-Nicolás, C Lloret-Ruiz, E Quecedo-Estébanez
Dermatosis characterized by tissue eosinophilia arising in the context of hematologic disease is known as eosinophilic dermatosis of hematologic malignancy. The most commonly associated malignancy is chronic lymphocytic leukemia. Eosinophilic dermatosis of hematologic malignancy is a rare condition with a wide variety of clinical presentations, ranging from papules, erythematous nodules, or blisters that simulate arthropod bites, to the formation of true plaques of differing sizes. Histology reveals the presence of abundant eosinophils...
March 22, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28342444/acid-ceramidase-deficiency-in-mice-results-in-a-broad-range-of-central-nervous-system-abnormalities
#9
Jakub Sikora, Shaalee Dworski, E Ellen Jones, Mustafa A Kamani, Matthew C Micsenyi, Tomo Sawada, Pauline Le Faouder, Justine Bertrand-Michel, Aude Dupuy, Christopher K Dunn, Ingrid Cong Yang Xuan, Josefina Casas, Gemma Fabrias, David R Hampson, Thierry Levade, Richard R Drake, Jeffrey A Medin, Steven U Walkley
Farber disease is a rare autosomal recessive disorder caused by acid ceramidase deficiency that usually presents as early-onset progressive visceral and neurologic disease. To understand the neurologic abnormality, we investigated behavioral, biochemical, and cellular abnormalities in the central nervous system of Asah1(P361R/P361R) mice, which serve as a model of Farber disease. Behaviorally, the mutant mice had reduced voluntary locomotion and exploration, increased thigmotaxis, abnormal spectra of basic behavioral activities, impaired muscle grip strength, and defects in motor coordination...
April 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28341520/in-silico-prediction-of-the-effects-of-mutations-in-the-human-triose-phosphate-isomerase-gene-towards-a-predictive-framework-for-tpi-deficiency
#10
Conor Oliver, David J Timson
Triose phosphate isomerase (TPI) deficiency is a rare, but highly debilitating, inherited metabolic disease. Almost all patients suffer severe neurological effects and the most severely affected are unlikely to live beyond early childhood. Here, we describe an in silico study into well-characterised variants which are associated with the disease alongside an investigation into 79 currently uncharacterised TPI variants which are known to occur in the human population. The majority of the disease-associated mutations affected amino acid residues close to the dimer interface or the active site...
March 21, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28339885/alcohol-related-hospitalization-is-associated-with-increased-risk-of-ischaemic-stroke-among-low-risk-patients-with-atrial-fibrillation
#11
Faris Al-Khalili, Lina Benson, Leif Friberg
Aims: Patients with atrial fibrillation (AF) under the age of 65 and CHA2DS2-VASc risk score of 0 in men or 1 in women are considered to be at low risk for ischaemic stroke, and therefore without benefit of oral anticoagulation therapy. The objective of this study is to assess the incidence and predictors of ischaemic stroke among low-risk patients with AF identified from a National Patient Register. Methods and results: A retrospective study of 25 252 low-risk AF patients (age 18-64) out of total 345 123 AF patients identified from the Swedish Nationwide Patient Register for the period 1 January 2006 to 31 December 2012...
February 23, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28339729/how-to-monitor-safety-and-efficacy-of-biologic-treatment-in-rare-therapy-refractory-immune-mediated-inflammatory-diseases-making-the-right-clinical-decisions-for-rare-diseases-with-the-right-tools
#12
https://www.readbyqxmd.com/read/28339631/evidence-for-the-involvement-of-the-proximal-copy-of-the-magea9-gene-in-xq28-linked-cnv67-specific-to-spermatogenic-failure%C3%A2
#13
Ying Shen, Jinyan Xu, Xiling Yang, Yunqiang Liu, Yongyi Ma, Dong Yang, Qiang Dong, Yuan Yang
Spermatogenic failure characterized by impaired sperm production is a common multifactorial disease with molecular and cytogenetic causes for its extreme phenotype that include azoospermia and severe oliogzoospermia. Recently, a high-resolution array-comparative genomic hybridization analysis of the X chromosome and a subsequent cohort study revealed three X-linked microdeletions (CNV64, CNV67, and CNV69) that were associated with decreased sperm production in a mixed group that included Spanish and Italian males...
February 7, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28339535/fungemia-due-to-rare-opportunistic-yeasts-data-from-a-population-based-surveillance-in-spain
#14
Mario Fernández-Ruiz, Jesús Guinea, Mireia Puig-Asensio, Óscar Zaragoza, Benito Almirante, Manuel Cuenca-Estrella, José María Aguado
Fungemia due to rare yeasts constitutes an emerging but poorly investigated condition. Data on risk factors, clinical features, therapy, and outcome of episodes of fungemia due to rare (non-Candida, non-Cryptococcus) yeasts were analyzed in a population-based surveillance program conducted in 29 Spanish hospitals between May 2010 and April 2011. Species identification (DNA sequencing) and antifungal susceptibility testing (EUCAST and CLSI methods) were centrally performed. Fourteen out of 767 episodes of fungemia (1...
August 5, 2016: Medical Mycology: Official Publication of the International Society for Human and Animal Mycology
https://www.readbyqxmd.com/read/28339516/improving-a-full-text-search-engine-the-importance-of-negation-detection-and-family-history-context-to-identify-cases-in-a-biomedical-data-warehouse
#15
Nicolas Garcelon, Antoine Neuraz, Vincent Benoit, Rémi Salomon, Anita Burgun
Objective: The repurposing of electronic health records (EHRs) can improve clinical and genetic research for rare diseases. However, significant information in rare disease EHRs is embedded in the narrative reports, which contain many negated clinical signs and family medical history. This paper presents a method to detect family history and negation in narrative reports and evaluates its impact on selecting populations from a clinical data warehouse (CDW). Materials and Methods: We developed a pipeline to process 1...
October 20, 2016: Journal of the American Medical Informatics Association: JAMIA
https://www.readbyqxmd.com/read/28339472/vector-status-of-aedes-species-determines-geographical-risk-of-autochthonous-zika-virus-establishment
#16
Lauren Gardner, Nan Chen, Sahotra Sarkar
BACKGROUND: The 2015-16 Zika virus pandemic originating in Latin America led to predictions of a catastrophic global spread of the disease. Since the current outbreak began in Brazil in May 2015 local transmission of Zika has been reported in over 60 countries and territories, with over 750 thousand confirmed and suspected cases. As a result of its range expansion attention has focused on possible modes of transmission, of which the arthropod vector-based disease spread cycle involving Aedes species is believed to be the most important...
March 24, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28339134/paranasal-sinus-lymphoma-retrospective-review-with-focus-on-clinical-features-histopathology-prognosis-and-relationship-to-systemic-lymphoma
#17
Brynn N Wajda, Mindy R Rabinowitz, Gurston G Nyquist, Stacey K Mardekian, Marc R Rosen, Michael P Rabinowitz
BACKGROUND: Paranasal sinus lymphoma is a rare clinical entity. METHODS: We conducted a retrospective case series of 68 patients with biopsy-confirmed paranasal sinus lymphoma with attention on systemic disease association. RESULTS: Of 63 patients with paranasal sinus lymphoma, 35 (56%) had systemic involvement. Four patient groups were identified: (1) primary paranasal sinus lymphoma (44%); (2) systemic disease occurring concurrently with paranasal sinus lymphoma (25%); (3) paranasal sinus lymphoma with relapse of preexisting systemic lymphoma (22%); and (4) progression to systemic disease after primary paranasal sinus lymphoma (8%)...
March 24, 2017: Head & Neck
https://www.readbyqxmd.com/read/28339061/identification-of-two-novel-mutations-in-the-slco2a1-prostaglandin-transporter-gene-in-a-chinese-patient-with-primary-hypertrophic-osteoarthropathy
#18
Ting Guo, Kai Yang, Lv Liu, Zhi-Ping Tan, Hong Luo
Primary hypertrophic osteoarthropathy (PHO), which is a rare multi‑organic disease characterized by digital clubbing, pachydermia and periosteal reaction, typically begins during childhood or adolescence and progresses gradually over years prior to disease stabilization. To date, only two genes have been reported to be associated with PHO, 15‑hydroxyprostaglandin dehydrogenase and solute carrier organic anion transporter family, member 2A1 (SLCO2A1). However, the pathogenesis and the functions of the underlying genes remain to be fully elucidated...
March 24, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28338788/hypertension-and-atrial-fibrillation-an-intimate-association-of-epidemiology-pathophysiology-and-outcomes
#19
Mikhail S Dzeshka, Farhan Shahid, Alena Shantsila, Gregory Y H Lip
Atrial fibrillation (AF) is the most prevalent sustained arrhythmia found in clinical practice. AF rarely exists as a single entity but rather as part of a diverse clinical spectrum of cardiovascular diseases, related to structural and electrical remodeling within the left atrium, leading to AF onset, perpetuation, and progression. Due to the high overall prevalence within the AF population arterial hypertension plays a significant role in the pathogenesis of AF and its complications. Fibroblast proliferation, apoptosis of cardiomyocytes, gap junction remodeling, accumulation of collagen both in atrial and ventricular myocardium all accompany ageing-related structural remodeling with impact on electrical activity...
February 18, 2017: American Journal of Hypertension
https://www.readbyqxmd.com/read/28338353/the-burden-of-familial-chylomicronemia-syndrome-interim-results-from-the-in-focus-study
#20
Michael Davidson, Michael Stevenson, Andrew Hsieh, Zahid Ahmad, Caroline Crowson, Joseph L Witztum
BACKGROUND: Familial Chylomicronemia Syndrome (FCS) is a rare genetic disorder that is caused by a decrease or an absence of lipoprotein lipase activity. FCS is characterized by marked accumulation of chylomicrons and extreme hypertriglyceridemia, which have major effects on both physical and mental health. To date, there have been no systematic efforts to characterize the impact of chylomicronemia on FCS patients' lives. In particular, the impact of FCS on the burden of illness (BoI) and quality of life (QoL) has not been fully described in the literature...
March 24, 2017: Expert Review of Cardiovascular Therapy
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