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https://www.readbyqxmd.com/read/29334678/genome-evolution-analysis-of-recurrent-testicular-malignant-mesothelioma-by-whole-genome-sequencing
#1
Shigeng Zhang, Qi Zhang, Qing Sun, Jinlong Tang, Jimin Chen, Na Ji, Yichun Zheng, Francia Fang, Wanjun Lei, Pengpeng Li, Nan Zhang
BACKGROUND/AIMS: Malignant mesothelioma of the tunica vaginalis testis is a rare and lethal disease. The genomic characteristics and genetic changes of tumor cells during the progression of this disease are unknown. METHODS: we performed whole-genome sequencing of four successive tumor samples derived from surgery and a blood sample in a single patient. RESULTS: All tumors were found to have significant C-to-T and T-to-C mutations, and amplification of copy number in chromosomes 1 and 12 were notified in all tumor samples...
January 15, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29334305/twelve-tips-for-teaching-a-comprehensive-disease-focused-course-with-a-global-perspective-a-sickle-cell-disease-example
#2
Dominique Bulgin, Paula Tanabe, Monika Asnani, Charmaine D M Royal
A disease-focused course entitled "Understanding Sickle Cell Disease: A Biopsychosocial Approach" addressed the complex nature of SCD using patient-centered, global and interdisciplinary approaches. Sickle cell disease (SCD) is a rare inherited blood disorder that requires multidisciplinary care. Worldwide 20-25 million individuals have SCD, which is associated with a shortened lifespan due to many medical complications and social and behavioral health challenges. Health care professionals often have limited knowledge of SCD as they typically learn about it within the context of their own disciplines...
January 15, 2018: Medical Teacher
https://www.readbyqxmd.com/read/29334297/perceptions-of-older-people-s-oral-health-care-among-nurses-working-in-geriatric-home-care
#3
Taru Aro, Marjo Laitala, Anna-Maija Syrjälä, Marja-Liisa Laitala, Jorma I Virtanen
OBJECTIVES: This study investigates nurses' self-reported experiences and perceptions of older people's oral health care using a qualitative method. METHODS: We interviewed 10 nurses working in geriatric home care who regularly visit and take care of older people in their homes. The interviews consisted of semi-structured questions. The interviews were then transcribed and analysed. RESULTS: All nurses were aware of the connection between oral health and general health, but more detailed knowledge about oral health was lacking and confidence in oral health care practices was limited...
January 15, 2018: Acta Odontologica Scandinavica
https://www.readbyqxmd.com/read/29334037/improvement-in-the-prognosis-of-cerebral-venous-sinus-thrombosis-over-a-22-year-period
#4
Dustin Anderson, Julie Kromm, Thomas Jeerakathil
BACKGROUND: Cerebral venous thrombosis is a rare cause of stroke, with a number of well-defined risk factors. However, there exist few studies that describe trends in the prognosis of this disease over time. METHODS: A retrospective study was performed on patients diagnosed with cerebral venous thrombosis at the University of Alberta Hospital during two time periods: 1988-1998 (21 patients) and 1999-2009 (40 patients). Signs and symptoms, risk factors, imaging findings, etiologies, treatment modalities, and status at discharge were examined...
January 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29334018/pyoderma-gangrenosum-demographics-treatments-and-outcomes-an-analysis-of-2-273-cases
#5
Sarah E Sasor, Tahereh Soleimani, Michael W Chu, Julia A Cook, Peter J Nicksic, Sunil S Tholpady
OBJECTIVE: Pyoderma gangrenosum is a rare, neutrophil-mediated, auto-inflammatory dermatosis. This condition has clinical features analogous to infectious processes and must be quickly diagnosed to be properly treated. The purpose of this study was to characterise relevant clinical features associated with pyoderma gangrenosum based on a large inpatient cohort. METHOD: The National Inpatient Sample (US) was used to identify patients with the diagnosis of pyoderma gangrenosum using ICD-9 diagnosis code 686...
January 1, 2018: Journal of Wound Care
https://www.readbyqxmd.com/read/29333842/an-adolescent-with-idiopathic-pleuroparenchymal-fibroelastosis-case-report
#6
Emine Atag, Nilay Bas Ikizoglu, Yasemin Gokdemir, Ela Erdem Eralp, Gursu Kiyan, Dilek Yilmazbayhan, Bulent Karadag
Idiopathic pleuroparenchymal fibroelastosis (IPPFE) is a rare disorder recently included in rare idiopathic interstitial pneumonias according to the updated American Thoracic Society/European Respiratory Society classification. IPPFE is characterized by pleural and subpleural parenchymal fibrosis causing volume loss predominantly in the upper lung lobes. Age of onset is variable, IPPFE mainly occurs in third and fourth decades. We present a 16 year old patient with a 2-year history of exertional dyspnea, nonproductive cough and weight loss...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29333831/-mammary-hemangioma-in-an-infant-with-apparent-mastitis-case-report
#7
Cristina Rodríguez Jiménez, Concepción Míguez Navarro, Minia Campos Domínguez, Carmen Garrido Colino
Mammary pathology is infrequent during childhood. It is rare the probability of finding a breast mass in an infant. The most frequent possible diagnoses at this age are breast abscess, mastitis, breast engorgement due to maternal hormonal stimulation and hemangioma. Reaching the proper diagnosis is essential in order to apply a suitable treatment and avoid the potential disease complications. We present the case of a female infant having a mass in the right breast from birth. Initially the entity was treated as mastitis...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29333830/-treatment-with-sublingual-desmopressin-in-two-infants-with-hydranencephaly-and-central-diabetes-insipidus
#8
Gustavo R Marín, Berta Baspineiro, Iris Vilca
Central diabetes insipidus is a rare disease in children caused by a deficiency of vasopressin. Its main clinical manifestations are polyuria and polydipsia. Brain malformations are one of the main causes. Desmopressin is the synthetic drug of choice for the treatment. One of the routes of administration is sublingual and its use in infants is very limited. We describe two infants with central diabetes insipidus and hydranencephaly who were successfully treated with sublingual desmopressin.
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29333701/the-childhood-arthritis-rheumatology-research-alliance-consensus-treatment-plans-towards-comparative-effectiveness-in-the-pediatric-rheumatic-diseases
#9
REVIEW
Sarah Ringold, Peter A Nigrovic, Brian M Feldman, George A Tomlinson, Emily von Scheven, Carol A Wallace, Adam M Huber, Laura E Schanberg, Suzanne C Li, Pamela F Weiss, Robert C Fuhlbrigge, Esi M Morgan, Yukiko Kimura
The pediatric rheumatic diseases are a heterogeneous group of rare diseases, posing a number of challenges for the use of traditional clinical and translational research approaches. Innovative comparative effectiveness approaches are needed to efficiently study treatment approaches and disease outcomes. The Childhood Arthritis and Rheumatology Research Alliance (CARRA) developed the consensus treatment plan (CTP) approach as a comparative effectiveness tool for research in pediatric rheumatology. CTPs are treatment strategies, developed by consensus methods among CARRA members, intended to reduce variation in treatment approaches, standardize outcome measurements, and allow for comparison of the effectiveness of different approaches with the goal of improving disease outcomes...
January 15, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29333622/metabolic-acidosis-and-anaemia-associated-with-dorzolamide-in-a-patient-with-impaired-renal-function
#10
Iva Hoffmanová, Daniel Sánchez
Topical carbonic anhydrase inhibitors (CAI), used for treatment of glaucoma, are generally regarded as safe and unconnected with systemic side effects. We report an unusual case of fatigue, metabolic acidosis, and normocytic anaemia associated with ocular administration of the CAI, dorzolamide, in a patient with impaired renal function. In chronic kidney disease, where CAI elimination may be decreased, and patients prone to develop metabolic acidosis, systemic absorption of ocular administered CAI could lead to rare, but potentially serious adverse reaction, that are a consequence of inhibition of extraocular carbonic anhydrase isoenzymes...
January 14, 2018: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29333363/creating-a-multi-center-rare-disease-consortium-the-consortium-of-eosinophilic-gastrointestinal-disease-researchers-cegir
#11
Katherine Cheng, Sandeep K Gupta, Susanna Kantor, Jonathan T Kuhl, Seema S Aceves, Peter A Bonis, Kelley E Capocelli, Christina Carpenter, Mirna Chehade, Margaret H Collins, Evan S Dellon, Gary W Falk, Rashmi Gopal-Srivastava, Nirmala Gonsalves, Ikuo Hirano, Eileen C King, John Leung, Jeffrey P Krischer, Vincent A Mukkada, Alain Schoepfer, Jonathan M Spergel, Alex Straumann, Guang-Yu Yang, Glenn T Furuta, Marc E Rothenberg
 Eosinophilic gastrointestinal disorders (EGIDs) affect various segments of the gastrointestinal tract. Since these disorders are rare, collaboration is essential to enroll subjects in clinical studies and study the broader population. The Rare Diseases Clinical Research Network (RDCRN), a program of the National Center for Advancing Translational Sciences (NCATS), funded the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) in 2014 to advance the field of EGIDs. CEGIR facilitates collaboration among various centers, subspecialties, patients, professional organizations and patient-advocacy groups and includes 14 clinical sites...
December 18, 2017: Translational Science of Rare Diseases
https://www.readbyqxmd.com/read/29332707/cutaneous-hemophagocytosis-clinicopathologic-features-of-21-cases
#12
Francesca Boggio, Viviana Lora, Carlo Cota, Amanda Pereira, Robert Müllegger, Lucia Prieto-Torres, Lorenzo Cerroni
BACKGROUND: Hemophagocytosis is well known in cytotoxic cutaneous T-cell lymphomas (CTCLs), in which it may represent a sign of hemophagocytic lymphohistiocytosis syndrome (HLHS), and is also typical of cutaneous Rosai-Dorfman disease (cRDD) (without prognostic relevance). Only rarely, has cutaneous hemophagocytosis (CH) been described in other skin conditions. OBJECTIVE: To characterize the clinicopathologic features of CH in skin biopsy specimens from patients with conditions other than CTCL or cRDD...
February 2018: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29332657/primary-oral-tuberculosis-on-the-tongue-mimicking-squamous-cell-carcinoma
#13
Karandeep Singh Arora, Sunny Garg, Prabhpreet Kaur, Shreeyam Mohapatra
Tuberculosis is chronic granulomatous disease with rare oral manifestations. But if so are overlooked by most of the health care professionals. Clinically, most of the times, a tuberculous ulcer may mimic an ulcer of malignant origin and may be misdiagnosed. So, keeping in mind the etiology and the nature of the ulcer, it should be differentially diagnosed and a histopathological examination should only confirm the final diagnosis of the ulcer.
January 2018: Indian Journal of Tuberculosis
https://www.readbyqxmd.com/read/29332633/impact-of-psychological-factors-on-the-health-related-quality-of-life-of-patients-treated-for-pulmonary-arterial-hypertension
#14
Laurence Halimi, Grégory Marin, Nicolas Molinari, Anne-Sophie Gamez, Clément Boissin, Carey M Suehs, Isabelle Vachier, Arnaud Bourdin
OBJECTIVE: Pulmonary arterial hypertension (PAH) is a rare and life-threatening disease well-marked by under diagnosis, delayed diagnosis and atypical treatments. Few data are available on the quality of life (QoL) and psychosocial characteristics of patients with PAH. Our aim is to describe the impact of psychological factors on the health-related quality of life (HRQoL) of treated PAH patients in a cross-sectional study. METHODS: Consecutive patients presenting at our Competency Centre for PAH were recruited...
February 2018: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/29332510/localized-autoimmune-pancreatitis-mimicking-pancreatic-cancer-case-report-and-literature-review
#15
Wen-Ling Hsu, Shu-Min Chang, Pei-Yin Wu, Chin-Chuan Chang
Autoimmune pancreatitis (AP) is a rare autoimmune pancreatic manifestation of systemic immunoglobulin G4 (IgG4)-related sclerosing disease. Distinguishing between AP and pancreatic cancer is crucial because the clinical courses, treatments, and prognoses of these two disease entities are quite different. We herein report a case involving a 52-year-old man with subacute epigastralgia who visited our hospital for evaluation of a suspicious pancreatic mass found during esophagogastroduodenoscopy. Enhanced computed tomography (CT) revealed an enlarged lesion in the pancreatic head with encasement of hepatic vessels...
January 1, 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29332214/targeted-next-generation-sequencing-in-patients-with-non-syndromic-congenital-heart-disease
#16
Silvia Pulignani, Cecilia Vecoli, Andrea Borghini, Ilenia Foffa, Lamia Ait-Alì, Maria Grazia Andreassi
Congenital heart disease (CHD) is a genetically heterogeneous disease. Targeted next-generation sequencing (NGS) offers a unique opportunity to sequence multiple genes at lower cost and effort compared to Sanger sequencing. We tested a targeted NGS of a specific gene panel in a relatively large population of non-syndromic CHD patients. The patient cohort comprised 68 CHD patients (45 males; 8.3 ± 1.7 years). Amplicon libraries for 16 CHD-strictly related genes were generated using a TruSeq® Custom Amplicon kit (Illumina, CA) and sequenced using the Illumina MiSeq platform...
January 13, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29332133/fumarate-hydratase-fh-deficiency-in-uterine-leiomyomas-recognition-by-histological-features-versus-blind-immunoscreening
#17
Lisa Siegler, Ramona Erber, Stefanie Burghaus, Tobias Brodkorb, David Wachter, Nafisa Wilkinson, James Bolton, Helen Stringfellow, Florian Haller, Matthias W Beckmann, Arndt Hartmann, Abbas Agaimy
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is a rare autosomal dominant disease caused by germline mutations in the fumarate hydratase (FH) gene. Affected individuals develop cutaneous and uterine leiomyomas and aggressive RCC. To date, only few publications described the frequency and morphology of FH-deficient uterine leiomyomas. We reviewed 22 cases collected over 8 years from routine and consultation files based on distinctive histological features. In addition, we screened 580 consecutive uterine leiomyomas from 484 patients, 23 extra-uterine and 8 uterine leiomyosarcomas, and 6 leiomyomas with bizarre nuclei for FH loss using immunohistochemistry (IHC) on tissue microarrays (TMAs)...
January 13, 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29332010/oligogenic-genetic-variation-of-neurodegenerative-disease-genes-in-980-postmortem-human-brains
#18
Michael J Keogh, Wei Wei, Juvid Aryaman, Ian Wilson, Kevin Talbot, Martin R Turner, Chris-Anne McKenzie, Claire Troakes, Johannes Attems, Colin Smith, Safa Al Sarraj, Chris M Morris, Olaf Ansorge, Stuart Pickering-Brown, Nick Jones, James W Ironside, Patrick F Chinnery
BACKGROUND: Several studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series. METHODS: We analysed 980 neuropathologically characterised human brains with Alzheimer's disease (AD), Parkinson's disease-dementia with Lewy bodies (PD-DLB), frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) and age-matched controls...
January 13, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29331962/splicing-variant-of-wdfy4-augments-mda5-signalling-and-the-risk-of-clinically-amyopathic-dermatomyositis
#19
Yuta Kochi, Yoichiro Kamatani, Yuya Kondo, Akari Suzuki, Eiryo Kawakami, Ryosuke Hiwa, Yukihide Momozawa, Manabu Fujimoto, Masatoshi Jinnin, Yoshiya Tanaka, Takashi Kanda, Robert G Cooper, Hector Chinoy, Simon Rothwell, Janine A Lamb, Jiří Vencovský, Heřman Mann, Koichiro Ohmura, Keiko Myouzen, Kazuyoshi Ishigaki, Ran Nakashima, Yuji Hosono, Hiroto Tsuboi, Hidenaga Kawasumi, Yukiko Iwasaki, Hiroshi Kajiyama, Tetsuya Horita, Mariko Ogawa-Momohara, Akito Takamura, Shinichiro Tsunoda, Jun Shimizu, Keishi Fujio, Hirofumi Amano, Akio Mimori, Atsushi Kawakami, Hisanori Umehara, Tsutomu Takeuchi, Hajime Sano, Yoshinao Muro, Tatsuya Atsumi, Toshihide Mimura, Yasushi Kawaguchi, Tsuneyo Mimori, Atsushi Takahashi, Michiaki Kubo, Hitoshi Kohsaka, Takayuki Sumida, Kazuhiko Yamamoto
OBJECTIVES: Idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of rare autoimmune diseases in which both genetic and environmental factors play important roles. To identify genetic factors of IIM including polymyositis, dermatomyositis (DM) and clinically amyopathic DM (CADM), we performed the first genome-wide association study for IIM in an Asian population. METHODS: We genotyped and tested 496 819 single nucleotide polymorphism for association using 576 patients with IIM and 6270 control subjects...
January 13, 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29331873/epilepsy-and-ovarian-failure-two-cases-of-adolescent-onset-ovarioleukodystrophy
#20
José David Herrera-García, Virginia Guillen-Martínez, Carlota Creus-Fernández, Adolfo Mínguez-Castellanos, Cristóbal Carnero Pardo
Vanishing white matter disease (VWM) was described by Van der Knaap in 1996. This association with premature ovarian failure is known as ovarioleukodystrophy. This is a rare entity caused by a mutation in one of the subunits of eukaryotic initiation factor 2B (EIF2B). The onset in adulthood or late in adolescence is very infrequent. A 41-years-old woman and her 37-years-old sister developed epilepsy in association with premature ovarian failure at the age of 13 and 18 respectively. The oldest-one started 17 years later progressive subcortical cognitive decline with predominant behavioural disorders and a progressive spastic paraparesis in association with symmetric cystic changes in the with matter of both hemispheres...
January 5, 2018: Clinical Neurology and Neurosurgery
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