keyword
MENU ▼
Read by QxMD icon Read
search

"Rare diseases"

keyword
https://www.readbyqxmd.com/read/28429953/-popliteal-vein-aneurysm
#1
V Opatrný, R Šulc, J Moláček, V Třeška, B Čertík, K Houdek, J Zeithaml
Popliteal vein aneurysm is a rare disease of the lower limb venous system. Massive pulmonary embolism may be a clinically serious presentation of the disease. The authors present surgical management of the popliteal vein aneurysm in two case reports.Key words: popliteal vein aneurysm surgical management.
2017: Rozhledy V Chirurgii: Měsíčník Československé Chirurgické Společnosti
https://www.readbyqxmd.com/read/28429368/-aralar-agc1-deficiency-a-neurodevelopmental-disorder-with-severe-impairment-of-neuronal-mitochondrial-respiration-does-not-produce-a-primary-increase-in-brain-lactate
#2
Inés Juaristi, María L García-Martin, Tiago B Rodrigues, Jorgina Satrústegui, Irene Llorente-Folch, Beatriz Pardo
ARALAR/AGC1 (aspartate-glutamate mitochondrial carrier 1) is an important component of the NADH malate-aspartate shuttle (MAS). AGC1-deficiency is a rare disease causing global cerebral hypomyelination, developmental arrest, hypotonia, and epilepsy (OMIM ID #612949); the aralar-KO mouse recapitulates the major findings in humans. This study was aimed at understanding the impact of ARALAR-deficiency in brain lactate levels as a biomarker. We report that lactate was equally abundant in wild-type and aralar-KO mouse brain in vivo at PND 17...
April 21, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28427518/controversies-in-clinicopathological-characteristics-and-treatment-strategies-of-male-breast-cancer-a-review-of-the-literature
#3
REVIEW
Agnese Losurdo, Selene Rota, Giuseppe Gullo, Giovanna Masci, Rosalba Torrisi, Giulia Bottai, Monica Zuradelli, Wolfgang Gatzemeier, Armando Santoro
Male breast cancer (MaBC) is a rare disease, accounting for less than 1% of malignancies in men. For this reason, literature data on its clinicopathological characteristics are very heterogeneous and treatment strategies have mostly been extrapolated from the female counterpart. However, immunohistochemical peculiarities of MaBC have recently emerged, defining it as a distinct entity from female breast cancer (FBC), thus requiring a tailored clinical approach. MaBC appears to be more often hormone receptor positive than FBC, while data on HER2 status still remain inconclusive, indicating a possible higher incidence of HER2 alterations...
May 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28427469/graves-orbitopathy-as-a-rare-disease-in-europe-a-european-group-on-graves-orbitopathy-eugogo-position-statement
#4
P Perros, L Hegedüs, L Bartalena, C Marcocci, G J Kahaly, L Baldeschi, M Salvi, J H Lazarus, A Eckstein, S Pitz, K Boboridis, P Anagnostis, G Ayvaz, A Boschi, T H Brix, N Currò, O Konuk, M Marinò, A L Mitchell, B Stankovic, F B Törüner, G von Arx, M Zarković, W M Wiersinga
BACKGROUND: Graves' orbitopathy (GO) is an autoimmune condition, which is associated with poor clinical outcomes including impaired quality of life and socio-economic status. Current evidence suggests that the incidence of GO in Europe may be declining, however data on the prevalence of this disease are sparse. Several clinical variants of GO exist, including euthyroid GO, recently listed as a rare disease in Europe (ORPHA466682). The objective was to estimate the prevalence of GO and its clinical variants in Europe, based on available literature, and to consider whether they may potentially qualify as rare...
April 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28426721/diagnosis-treatment-and-prognosis-of-small-bowel-volvulus-in-adults-a-monocentric-summary-of-a-rare-small-intestinal-obstruction
#5
Xiaohang Li, Jialin Zhang, Baifeng Li, Dehui Yi, Chengshuo Zhang, Ning Sun, Wu Lv, Ao Jiao
OBJECTIVES: Small bowel volvulus is a rare disease, which is also challenging to diagnose. The aims of this study were to characterize the clinical and radiological features associated with small bowel volvulus and treatment and to identify risk factors for associated small bowel necrosis. METHODS: Patients with small bowel volvulus who underwent operations from January 2001 to December 2015 at the First Affiliated Hospital of China Medical University (Shenyang, China) were reviewed...
2017: PloS One
https://www.readbyqxmd.com/read/28426677/information-ranks-highest-expectations-of-female-adolescents-with-a-rare-genital-malformation-towards-health-care-services
#6
Elisabeth Simoes, Alexander N Sokolov, Andrea Kronenthaler, Hanna Hiltner, Norbert Schaeffeler, Katharina Rall, Esther Ueding, Monika A Rieger, Anke Wagner, Leonie S Poesch, Marie-Christin Baur, Judith Kittel, Sara Y Brucker
BACKGROUND: Access to highly specialized health care services and support to meet the patient's specific needs is critical for health outcome, especially during age-related transitions within the health care system such as with adolescents entering adult medicine. Being affected by an orphan disease complicates the situation in several important respects. Long distances to dedicated institutions and scarcity of knowledge, even among medical doctors, may present major obstacles for proper access to health care services and health chances...
2017: PloS One
https://www.readbyqxmd.com/read/28424699/patient-s-experience-in-pediatric-primary-immunodeficiency-disorders-computerized-classification-of-questionnaires
#7
Urs Mücke, Christian Klemann, Ulrich Baumann, Almut Meyer-Bahlburg, Xiaowei Kortum, Frank Klawonn, Werner M Lechner, Lorenz Grigull
INTRODUCTION: Primary immunodeficiency disorders (PIDs) are a heterogeneous group of more than 200 rare diseases. Timely diagnosis is of uttermost importance. Therefore, we aimed to develop a diagnostic questionnaire with computerized pattern-recognition in order to support physicians to identify suspicious patient histories. MATERIALS AND METHODS: Standardized interviews were conducted with guardians of children with PID. The questionnaire based on parental observations was developed using Colaizzis' framework for content analysis...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28424443/case-report-of-a-rarely-seen-long-segment-middle-aortic-syndrome
#8
Kahraman Yakut, İlkay Erdoğan
Middle aortic syndrome (MAS) follows a course with distal thoracic and abdominal aorta stenosis. It is a rare disease that is usually diagnosed after the first decade of life. Clinical reflection of MAS is often in the form of hypertension and claudication in the lower extremities. Its etiology is unclear, but is known to be associated with congenital or acquired diseases. This pathology, which is accompanied by malignant hypertension, often does not respond to medical treatment. In patients with MAS, surgical treatment is first line recommendation to prevent complications such as hypertension, heart failure, intracranial bleeding, or aortic rupture...
March 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28424409/clinical-genomic-profiling-to-identify-actionable-alterations-for-investigational-therapies-in-patients-with-diverse-sarcomas
#9
Roman Groisberg, David S Hong, Vijaykumar Holla, Filip Janku, Sarina Piha-Paul, Vinod Ravi, Robert Benjamin, Shreyas Kumar Patel, Neeta Somaiah, Anthony Conley, Siraj M Ali, Alexa B Schrock, Jeffrey S Ross, Philip J Stephens, Vincent A Miller, Shiraj Sen, Cynthia Herzog, Funda Meric-Bernstam, Vivek Subbiah
BACKGROUND: There are currently no United States Food and Drug Administration approved molecularly matched therapies for sarcomas except gastrointestinal stromal tumors. Complicating this is the extreme diversity, heterogeneity, and rarity of these neoplasms. Few therapeutic options exist for relapsed and refractory sarcomas. In clinical practice many oncologists refer patients for genomic profiling hoping for guidance on treatment options after standard therapy. However, a systematic analysis of actionable mutations has yet to be completed...
April 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/28424332/improving-genetic-diagnosis-in-mendelian-disease-with-transcriptome-sequencing
#10
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne H O'Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan Gonorazky, Kristl Claeys, Himanshu Joshi, Adam Bournazos, Emily C Oates, Roula Ghaoui, Mark R Davis, Nigel G Laing, Ana Topf, Peter B Kang, Alan H Beggs, Kathryn N North, Volker Straub, James J Dowling, Francesco Muntoni, Nigel F Clarke, Sandra T Cooper, Carsten G Bönnemann, Daniel G MacArthur
Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic analyses across a variety of rare diseases is approximately 25 to 50%. We explore the utility of transcriptome sequencing [RNA sequencing (RNA-seq)] as a complementary diagnostic tool in a cohort of 50 patients with genetically undiagnosed rare muscle disorders. We describe an integrated approach to analyze patient muscle RNA-seq, leveraging an analysis framework focused on the detection of transcript-level changes that are unique to the patient compared to more than 180 control skeletal muscle samples...
April 19, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28424097/unusual-course-of-generalized-lymph-node-primary-plasmacytoma-in-a-patient-with-sj%C3%A3-gren-s-syndrome-a-case-report
#11
Vadim R Gorodetskiy, Natalya A Probatova, Vladimir I Vasilyev
BACKGROUND: Primary lymph node plasmacytoma is a rare disease that typically involves lymph nodes of the neck. In only 15% of cases is the disease generalized. Here, we present a case of generalized lymph node plasmacytoma in a patient with Sjögren's syndrome with an unusual course. CASE PRESENTATION: A 48-year-old white woman presented to our hospital with enlargement of groups of lymph nodes, liver, and spleen. Her medical history was consistent with a 12-year course of Sjögren's syndrome...
April 20, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28422865/crystalglobulinemia-manifesting-as-chronic-arthralgia-and-acute-limb-ischemia-a-clinical-case-report
#12
Nobuya Abe, Tomoko Tomita, Miyuki Bohgaki, Hideki Kasahara, Takao Koike
RATIONALE: Crystalglobulinemia is a rare disease caused by monoclonal immunoglobulins, characterized by irreversible crystallization on refrigeration. It causes systemic symptoms including purpura, arthralgia, and vessel occlusive conditions to be exacerbated by exposure to cold. We report a patient with crystalglobulinemia associated with monoclonal gammopathy of undetermined significance (MGUS) manifesting as chronic arthralgia and recurrent acute arterial occlusion. PRESENTING CONCERNS: A 61-year-old man, who had been diagnosed with MGUS and who had arthralgia of unknown origin, presented with recurrent acute limb ischemia after surgical thromboembolectomy...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28422825/interdigitating-dendritic-cell-sarcoma-presenting-in-the-sigmoid-colon-mesentery-a-case-report-and-literature-review
#13
Jianguo Zhu, Sheng Su, Jinfa Zhou, Haige Li
RATIONALE: Interdigitating dendritic cell sarcoma (IDCS) is an extremely rare disease. It commonly occurs in middle-aged males and mainly involves the lymph nodes. Pathological examination plays an important role in differentiating from other tumors, but far less published literature focuses on the imaging characteristics of IDCS. PATIENT CONCERNS: Here, we reported a case of IDCS in a 52-year-old male involving the pelvis with medical imaging and pathologic findings...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28421946/-it-s-a-privilege-to-look-after-these-children
#14
Alison Moore
Moving from children's to adult services is a daunting time for any young person and those who care for them, but for those with rare diseases it can be particularly challenging.
April 19, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28421817/sequential-gm-csf-inhalation-after-whole-lung-lavage-for-pulmonary-alveolar-proteinosis-a-report-of-five-intractable-cases
#15
Shinya Ohkouchi, Keiichi Akasaka, Toshio Ichiwata, Shu Hisata, Hideya Iijima, Toshinori Takada, Hiroki Tsukada, Hideaki Nakayama, Jun-Ichi Machiya, Toshiya Irokawa, Hiromasa Ogawa, Yoko Shibata, Masakazu Ichinose, Masahito Ebina, Toshihiro Nukiwa, Hajime Kurosawa, Koh Nakata, Ryushi Tazawa
Autoimmune pulmonary alveolar proteinosis (aPAP) is a rare disease characterized by the excessive accumulation of surfactant proteins within the alveolar spaces and by higher titers of autoantibodies to granulocyte/macrophage colony stimulating factor (GM-CSF) in the serum and bronchoalveolar lavage fluid (BALF). The antibodies inhibit the maturation and phagocytosis of alveolar macrophages (AMs). Although the standard therapy for aPAP has been whole-lung lavage (WLL), this procedure is invasive and needs to be repeated for several years...
April 19, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28421247/-rare-diseases
#16
EDITORIAL
Stefanie Weber, Annette Grüters-Kieslich
No abstract text is available yet for this article.
April 18, 2017: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/28420393/medical-treatment-of-mammary-desmoid-type-fibromatosis-which-benefit
#17
Louise Scheer, Massimo Lodi, Sébastien Molière, Jean-Emmanuel Kurtz, Carole Mathelin
BACKGROUND: Breast fibromatosis is a rare disease characterized by monoclonal fibroblast proliferation. It has no ability to metastasize but has a high local recurrence rate and often infiltrates surrounding tissues. Surgical treatment is the reference, but recently, new targeted therapies have emerged. We report an original case of a patient with breast fibromatosis who received exclusive medical treatment. Our aim was to analyze these treatments based on the clinical and radiological outcome, iatrogenic effects, and pharmacological action...
April 18, 2017: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28420120/clinical-outcomes-of-217-patients-with-acute-erythroleukemia-according-to-treatment-type-and-line-a-retrospective-multinational-study
#18
Antonio M Almeida, Thomas Prebet, Raphael Itzykson, Fernando Ramos, Haifa Al-Ali, Jamile Shammo, Ricardo Pinto, Luca Maurillo, Jaime Wetzel, Pellegrino Musto, Arjan A Van De Loosdrecht, Maria Joao Costa, Susana Esteves, Sonja Burgstaller, Reinhard Stauder, Eva M Autzinger, Alois Lang, Peter Krippl, Dietmar Geissler, Jose Francisco Falantes, Carmen Pedro, Joan Bargay, Guillermo Deben, Ana Garrido, Santiago Bonanad, Maria Diez-Campelo, Sylvain Thepot, Lionel Ades, Wolfgang R Sperr, Peter Valent, Pierre Fenaux, Mikkael A Sekeres, Richard Greil, Lisa Pleyer
Acute erythroleukemia (AEL) is a rare disease typically associated with a poor prognosis. The median survival ranges between 3-9 months from initial diagnosis. Hypomethylating agents (HMAs) have been shown to prolong survival in patients with myelodysplastic syndromes (MDS) and AML, but there is limited data of their efficacy in AEL. We collected data from 210 AEL patients treated at 28 international sites. Overall survival (OS) and PFS were estimated using the Kaplan-Meier method and the log-rank test was used for subgroup comparisons...
April 14, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28419182/molecular-classification-of-pulmonary-sarcomatoid-carcinomas-suggests-new-therapeutic-opportunities
#19
N Pécuchet, T Vieira, N Rabbe, M Antoine, H Blons, J Cadranel, P Laurent-Puig, M Wislez
Background: Pulmonary sarcomatoid carcinoma (SC) is a rare disease with poor prognosis and with strong inter- and intratumor heterogeneity. However, molecular classification is currently focused on activating MET mutations. We sought to better characterize the molecular diversity of SC using mutational signatures that reflect different mutational processes, such as tobacco-associated adducts (signature 4), BRCA1/BRCA2 deficiency (signature 3) or APOBEC enzyme deamination (signatures 2&13)...
April 13, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28417073/primary-amyloidosis-of-the-urinary-bladder-a-case-report
#20
Liwen Zhao, Lu Jin, Jing Quan, Xiang Pan, Lijun Zhou, Jian Peng, Zebo Chen, Shangqi Yang, Xiangming Mao, Yongqing Lai
Primary amyloidosis of the urinary bladder is a rare disease, with only approximately 200 cases reported in the literature. We herein present a case of amyloidosis of the urinary bladder with painful gross hematuria. Pelvic Computed Tomography showed uneven thickening of the bladder wall suspicious of neoplastic lesion. Cystoscopy and transurethral resection were performed. Congo-red staining confirmed amyloidosis it was. Postoperative recovery was good and close follow-up was recommended after discharged. Amyloidosis is usually benign, while it can masquerade as a malignancy...
July 2017: Urology Case Reports
keyword
keyword
37135
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"