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rare diseases

Kathrin Schalk, Barbara Lexhaller, Peter Koehler, Katharina Anne Scherf
Gluten proteins from wheat, rye, barley and, in rare cases, oats, are responsible for triggering hypersensitivity reactions such as celiac disease, non-celiac gluten sensitivity and wheat allergy. Well-defined reference materials (RM) are essential for clinical studies, diagnostics, elucidation of disease mechanisms and food analyses to ensure the safety of gluten-free foods. Various RM are currently used, but a thorough characterization of the gluten source, content and composition is often missing. However, this characterization is essential due to the complexity and heterogeneity of gluten to avoid ambiguous results caused by differences in the RM used...
2017: PloS One
Susanne Blöß, Christian Klemann, Ann-Katrin Rother, Sandra Mehmecke, Ulrike Schumacher, Urs Mücke, Martin Mücke, Christiane Stieber, Frank Klawonn, Xiaowei Kortum, Werner Lechner, Lorenz Grigull
BACKGROUND: Worldwide approximately 7,000 rare diseases have been identified. Accordingly, 4 million individuals live with a rare disease in Germany. The mean time to diagnosis is about 6 years and patients receive several incorrect diagnoses during this time. A multiplicity of factors renders diagnosing a rare disease extremely difficult. Detection of shared phenomena among individuals with different rare diseases could assist the diagnostic process. In order to explore the demand for diagnostic support and to obtain the commonalities among patients, a nationwide Delphi survey of centers for rare diseases and patient groups was conducted...
2017: PloS One
C Honoré, V Atallah, O Mir, D Orbach, G Ferron, C LePéchoux, J B Delhorme, P Philippe-Chomette, S Sarnacki, S Msika, P Terrier, O Glehen, H Martelli, V Minard-Colin, F Bertucci, J Y Blay, S Bonvalot, D Elias, A LeCesne, P Sargos
BACKGROUND: Desmoplastic Small Round Cell Tumor (DSRCT) is a rare disease affecting predominantly children and young adults and for which the benefit of hyperthermic intraperitoneal chemotherapy (HIPEC) after complete cytoreductive surgery (CCRS) remains unknown. METHODS: To identify patients with DSRCT without extraperitoneal metastases (EPM) who underwent CCRS between 1991 and 2015, a retrospective nation-wide survey was conducted by crossing the prospective and retrospective databases of the French Network for Rare Peritoneal Malignancies, French Reference Network in Sarcoma Pathology, French Sarcoma Clinical Network and French Pediatric Cancer Society...
2017: PloS One
Alejandro Roman-Gonzalez, Camilo Jimenez
PURPOSE OF REVIEW: Pheochromocytomas and paragangliomas (PPGs) are rare neuroendocrine tumors. Over the last 15 years, substantial progress has been made toward understanding the clinical aspects and molecular origins of this disease. Nevertheless, predicting and managing malignancy remains the biggest challenge in clinical practice. The natural history of patients with malignant PPGs has not yet been described, and their prognosis varies. Currently, the diagnosis of malignant PPGs relies on the presence of metastases, by which time the disease is usually advanced...
February 23, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
Priyanka Nandakumar, Dongwon Lee, Melissa A Richard, Fasil Tekola-Ayele, Bamidele O Tayo, Erin Ware, Yun J Sung, Babatunde Salako, Adesola Ogunniyi, C Charles Gu, Megan L Grove, Myriam Fornage, Sharon Kardia, Charles Rotima, Richard S Cooper, Alanna C Morrison, Georg Ehret, Aravinda Chakravarti
OBJECTIVES: Hypertension is a major risk factor for all cardiovascular diseases, especially among African Americans. This study focuses on identifying specific blood pressure (BP) genes using 15 914 individuals of African ancestry from eight cohorts (Africa America Diabetes Mellitus, Atherosclerosis Risk in Communities Study, Coronary Artery Risk Development in young Adults, Genetics Network, Genetic Epidemiology Network of Arteriopathy, Howard University Family Study, Hypertension Genetic Epidemiology Network, and Loyola University Chicago Cohort) to further genetic findings in this population which has generally been underrepresented in BP studies...
February 22, 2017: Journal of Hypertension
Rita C F Tavares, Ana C C A Feldner, João R R Pinho, Silvia N O Uehara, Christini T Emori, Roberto J Carvalho-Filho, Ivonete S S Silva, Rúbia A F Santana, Vanessa F D de Castro, Gregório T F Castoli, Charliana U Cristovão, Maria L C G Ferraz
Background NS3 protease inhibitors (PIs) were the first direct antiviral agents used for the treatment of hepatitis C virus. The combination of second-wave PIs with other direct antiviral agents enabled the use of interferon-free regimens for chronic kidney disease patients on dialysis and renal transplant (RTx) recipients, populations in which the use of interferon and ribavirin is limited. However, the occurrence of PI resistance-associated variants (RAVs), both baseline and induced by therapy, has resulted in the failure of many treatment strategies...
February 23, 2017: European Journal of Gastroenterology & Hepatology
Ross M Fasano, Harold Cliff Sullivan, Robert A Bray, Howard M Gebel, Erin K Meyer, Annie M Winkler, Cassandra D Josephson, Sean R Stowell, Alexander Sandy Duncan, John D Roback
Current genotyping methodologies for transplantation and transfusion management employ multiplex systems that allow for simultaneous detection of multiple HLA antigens, human platelet antigens, and red blood cell (RBC) antigens. The development of high-resolution, molecular HLA typing has led to improved outcomes in unrelated hematopoietic stem cell transplants by better identifying compatible alleles of the HLA-A, B, C, DRB1, and DQB1 antigens. In solid organ transplantation, the combination of high-resolution HLA typing with solid-phase antibody identification has proven of value for highly sensitized patients and has significantly reduced incompatible crossmatches at the time of organ allocation...
March 2017: Archives of Pathology & Laboratory Medicine
Yi Yu, Jianlong Li, Lian Guo, Taifu Gu, Ruihai Xiao, Ye Ye, Qiufeng Pan, Yuanyuan Zhang, Hongwei Huang
Horseshoe kidney deformity with duplex urinary collecting systems is a rare congenital urinary tract defect. Clinically, it is very difficult to visually observe and examine the whole anatomic structure and information with the regular 2D diagnostic imaging tools. Here, we report a case in which a middle age patient has bilateral duplex urinary collecting systems and horseshoe kidney deformity accompanied with right renal ureteral calculi and hydronephrosis. It was diagnosed by magnetic resonance urography with urinary system 3D reconstruction...
February 21, 2017: Journal of X-ray Science and Technology
Alex Uhr, Awinder P Singh, Jose Munoz, Allison Aka, Melanie Sion, Wei Jiang, Scott D Goldstein, Ernest L Rosato
An asymptomatic 73-year-old woman was found to have a submucosal mass in the descending colon on routine colonoscopy. A CT scan revealed a 31 × 28 × 31 mm lesion in the same location. Previous biopsy proved to be nondiagnostic, and the patient underwent a laparoscopic descending colon resection. Histologic evaluation of the tumor revealed a low grade spindle cell neoplasm with strong, diffuse positivity for S-100 protein by immunohistochemistry, leading to the diagnosis of schwannoma. A review of the literature revealed intestinal schwannoma to be a rare disease entity, with only about 50 cases previously reported...
December 1, 2016: American Surgeon
S W Kim, J-P Myong, H K Yoon, J-W Koo, S S Kwon, Y H Kim
SETTING: Despite the clinical importance of idiopathic pulmonary fibrosis (IPF), its epidemiology has been rarely reported. The economic burden from IPF is therefore difficult to predict. OBJECTIVE: To analyse the health care burden and current situation with respect to medical resource utilisation in patients with IPF in Korea. METHODS: We analysed nationwide data collected between 2009 and 2013 from the Korean Health Insurance Review and Assessment (HIRA) database...
February 1, 2017: International Journal of Tuberculosis and Lung Disease
Maria Paula Henao, Timothy J Craig
Alpha-1 antitrypsin (AAT) is the prototypical protease inhibitor from the serine protease inhibitor (serpin) superfamily that protects lung tissue from proteolytic damage by inhibiting neutrophil elastase. Approximately 1 in 2750 to 1 in 4500 individuals have an autosomal codominant condition that leads to a deficiency of circulating AAT. In individuals with AAT deficiency (AATD), AAT is retained in liver cells, which predisposes them to liver disease, and does not reach lung tissues through circulation, where it normally acts as the primary natural regulator of proteolytic activity in the pulmonary tissues, which thus leads to lung disease...
March 1, 2017: Allergy and Asthma Proceedings:
(no author information available yet)
OBJECTIVE: Cardiovascular diseases are the most common cause of deaths. Cardiovascular mortality is influenced by several factors that can be changed by our behaviour. The goal of this study was to survey the opinions of physicians and nurses on the topic of preventative cardiovascular risk factors. METHODS: The inquiry was carried out using a standardized structured interviewer-respondent interview (face-to-face). The final form of the interview was based on the results of a pre-investigation...
December 24, 2016: Neuro Endocrinology Letters
(no author information available yet)
OBJECTIVES: The goal of this article was to assess the delivery of patient health-education, relative to cardiovascular disease from the perspective of physicians and nurses, as well as from the perspective of citizens living in the Czech Republic. METHODS: The article is based on data acquired from the "Intervention procedures in preventive cardiology" grant project. To evaluate patient health education, non-standardized questionnaires intended for physicians (n = 1000) and nurses (n = 1000) were used...
December 24, 2016: Neuro Endocrinology Letters
Satomi Tabata, Masaki Murata, Akira Takasawa, Atsushi Fukuda, Jun Ogasawara, Takayuki Koseki, Katsuhiko Nakano, Keiko Segawa, Rena Morita, Tadashi Hasegawa, Norimasa Sawada
Langerhans cell sarcoma (LCS) and quintuple cancers are extremely rare. In this report, a case of quintuple cancers including LCS was described. An 80-year-old man had squamous cell carcinoma of the nasal skin, colon and rectum adenocarcinomas, and T-cell/histiocyte-rich large B-cell lymphoma. As swelling of multiple submental lymph nodes was observed, fine-needle aspiration was carried out. Many large cells with high-grade nuclear atypia and abundant cytoplasm were observed. Lymphocytes and eosinophils were observed in the background...
February 24, 2017: Diagnostic Cytopathology
Michel R M San Giorgi, Olivier S D de Groot, Frederik G Dikkers
OBJECTIVE: Recurrent respiratory papillomatosis (RRP) is a rare disease for which a limited number of information sources for patients exist. The role of the Internet in the patient-physician relationship is increasing. More and more patients search for online health information, which should be of good quality and easy readable. The study aim was to investigate the quality and readability of English online health information about RRP. STUDY DESIGN: Quality and readability assessment of online information...
February 24, 2017: Laryngoscope
Chih-Yung Chiu, Shih-Chi Su, Wen-Lang Fan, Shen-Hao Lai, Ming-Han Tsai, Shih-Hsiang Chen, Kin-Sun Wong, Wen-Hung Chung
Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disease in which the abnormalities in alveolar surfactant accumulation are caused by impairments of GM-CSF pathway attributing to defects in a variety of genes. However, hereditary PAP is extremely uncommon and a detailed understanding in the genetic inheritance of PAP in a family may provide timely diagnosis, treatment and proper intervention including genetic consultation. Here, we described a comprehensive analysis of genome and gene expression for a family containing one affected child with a diagnosis of PAP and two other healthy siblings...
February 24, 2017: Scientific Reports
A Aounallah, N Ghariani Fetoui, M Ksiaa, L Boussofara, W Saidi, S Mokni, B Sriha, C Belajouza, M Denguezli, N Ghariani, R Nouira
INTRODUCTION: Cutaneous Crohn disease is a rare cutaneous manifestation of Crohn disease in children. Herein is reported a case of persistent vulvar lymphedema revealing Crohn disease in a teenage girl. CASE REPORT: A 14-year-old girl presented with an 8-month history of persistent vulvar swelling associated with chronic macrocheilia. Dermatologic examination showed an inflammatory vulvar lymphedema, associated with perianal fissures and hypertrophic gingivitis...
February 20, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Viviana Palazzo, Aldesia Provenzano, Francesca Becherucci, Giulia Sansavini, Benedetta Mazzinghi, Valerio Orlandini, Laura Giunti, Rosa Maria Roperto, Marilena Pantaleo, Rosangela Artuso, Elena Andreucci, Sara Bargiacchi, Giovanna Traficante, Stefano Stagi, Luisa Murer, Elisa Benetti, Francesco Emma, Mario Giordano, Francesca Rivieri, Giacomo Colussi, Silvana Penco, Emanuela Manfredini, Maria Rosa Caruso, Livia Garavelli, Simeone Andrulli, Gianluca Vergine, Nunzia Miglietti, Elena Mancini, Cristina Malaventura, Antonio Percesepe, Enrico Grosso, Marco Materassi, Paola Romagnani, Sabrina Giglio
Primary distal renal tubular acidosis is a rare genetic disease. Mutations in SLC4A1, ATP6V0A4, and ATP6V1B1 genes have been described as the cause of the disease, transmitted as either an autosomal dominant or recessive trait. Particular clinical features, such as sensorineural hearing loss, have been mainly described in association with mutations in one gene instead of the others. Nevertheless, the diagnosis of distal renal tubular acidosis is essentially based on clinical and laboratory findings, and the series of patients described so far are usually represented by small cohorts...
February 20, 2017: Kidney International
T I Schertenleib, A Pospischil, M Hässig, P R Kircher, M Hilbe
The comparison of clinical ante-mortem and pathological post-mortem diagnoses is a prerequisite for quality control, but is rarely done in veterinary medicine. This study reports the occurrence and concurrence of clinical and pathological diagnoses linked to death in 1,000 cats and 1,000 dogs examined and subjected to necropsy examination at the University of Zurich, Switzerland. Potential factors influencing the correlation between diagnoses were examined retrospectively. In 5.8% of cats and 5.2% of dogs no diagnosis was made; in 2...
February 20, 2017: Journal of Comparative Pathology
S Pizzoni, S Sabattini, D Stefanello, A Dentini, R Ferrari, M Dacasto, M Giantin, P Laganga, M Amati, G Tortorella, L Marconato
BACKGROUND: Distant metastases in dogs with cutaneous mast cell tumors (cMCT) are rare and incurable. The aims of this prospective study were to clarify the clinico-pathological features of stage IV cMCTs and to identify possible prognostic factors for progression-free interval (PFI) and survival time (ST). MATERIAL AND METHODS: Dogs were eligible for recruitment if they had a previously untreated, histologically confirmed cMCT and if they underwent complete staging demonstrating stage IV disease...
February 23, 2017: Veterinary and Comparative Oncology
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