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https://www.readbyqxmd.com/read/29228431/the-association-of-pancreatic-cystosis-and-ipmn-in-cystic-fibrosis-case-report-and-literature-review
#1
D Pagliari, A Saviano, M L Serricchio, A A Dal Lago, M G Brizi, R Manfredi, G Costamagna, F Attili
Pancreatic cystosis is a rare presentation of cystic fibrosis involving pancreatic gland. To date, only very few cases of pancreatic cystosis have been described in literature. Pancreatic cystosis may begin during the second decade of life and is the rarest presentation of cystic fibrosis. This disease is characterized by the presence of multiloculated cysts without ductal system communication of different sizes in all the pancreatic tissue. Herein, we report a case of a young woman affected by cystic fibrosis that was admitted to our Pancreatic Centre to evaluate a picture of diffuse multiloculated pancreatic cysts...
November 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29228394/the-psychiatric-risk-gene-transcription-factor-4-tcf4-regulates-neurodevelopmental-pathways-associated-with-schizophrenia-autism-and-intellectual-disability
#2
Marc P Forrest, Matthew J Hill, David H Kavanagh, Katherine E Tansey, Adrian J Waite, Derek J Blake
Background: Common genetic variants in and around the gene encoding transcription factor 4 (TCF4) are associated with an increased risk of schizophrenia. Conversely, rare damaging TCF4 mutations cause Pitt-Hopkins syndrome and have also been found in individuals with intellectual disability (ID) and autism spectrum disorder (ASD). Methods: Chromatin immunoprecipitation and next generation sequencing were used to identify the genomic targets of TCF4. These data were integrated with expression, epigenetic and disease gene sets using a range of computational tools...
December 8, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29228265/complete-motif-analysis-of-sequence-requirements-for-translation-initiation-at-non-aug-start-codons
#3
Alexander J Diaz de Arce, William L Noderer, Clifford L Wang
The initiation of mRNA translation from start codons other than AUG was previously believed to be rare and of relatively low impact. More recently, evidence has suggested that as much as half of all translation initiation utilizes non-AUG start codons, codons that deviate from AUG by a single base. Furthermore, non-AUG start codons have been shown to be involved in regulation of expression and disease etiology. Yet the ability to gauge expression based on the sequence of a translation initiation site (start codon and its flanking bases) has been limited...
December 8, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29228253/rare-potentially-pathogenic-variants-in-znf469-are-not-enriched-in-keratoconus-in-a-large-australian-cohort-of-european-descent
#4
Sionne E M Lucas, Tiger Zhou, Nicholas B Blackburn, Richard A Mills, Jonathan Ellis, Paul Leo, Emmanuelle Souzeau, Bronwyn Ridge, Jac C Charlesworth, Matthew A Brown, Richard Lindsay, Jamie E Craig, Kathryn P Burdon
Purpose: The Zinc Finger Protein 469 (ZNF469) gene has been proposed as a candidate gene for keratoconus due to the association of an upstream polymorphism (rs9938149) with the disease in two independent studies, and the role of the gene in the autosomal recessive disease Brittle Cornea Syndrome. Coding variants in ZNF469 have been assessed for association with keratoconus in several small studies, with conflicting results. We assessed rare, potentially pathogenic variants in ZNF469 for enrichment in keratoconus patients in a cohort larger than all previous studies combined...
December 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29228125/myeloid-neoplasms-following-solid-organ-transplantation-clinicopathologic-studies-of-23-cases
#5
Bin Wu, Kimberly Ingersoll, Rachel Jug, Lian-He Yang, Catherine Luedke, Amanda Lo, Pu Su, Xin Liu, Catherine Rehder, Jerald Gong, Chuanyi Mark Lu, Endi Wang
Objectives: Myeloid neoplasms (MNs) after solid organ transplant are rare, and their clinicopathologic features have not been well characterized. Methods: We retrospectively analyzed 23 such cases. Results: The ages ranged from 2 to 76 years, with a median of 59 years at the diagnosis. The median interval between the transplant and diagnosis was 56 months (range, 8-384 months). The transplanted organs included liver in five, kidney in six, lung in five, heart in six, and heart/lung in one case(s)...
December 7, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29227858/bilateral-ovarian-angiosarcoma-arising-from-the-mature-cystic-teratomas-a-case-report-and-review-of-the-literature
#6
Erik Kudela, Marcela Nachajova, Kamil Biringer, Pavol Slavik, Lukas Plank, Jan Danko
INTRODUCTION: Ovarian teratomas undergo the malignant transformation in 0.2-2% of cases. The behavior of malignancies in mature cystic teratomas (MCT) is determined by their phenotype and not their derivation from germ cells. We can recognize pure angiosarcomas or as a part of other tumors like malignant mixed Mullerian tumors and adenosarcomas. PRESENTATION OF CASE: We present the first case of bilateral ovarian angiosarcoma arising from the mature teratomas. Due to widespread disease, we performed limited surgical procedure consisting of bilateral adnexectomy and omentectomy...
December 7, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29227792/nodal-stage-is-it-a-prognostic-factor-for-submandibular-gland-cancer
#7
Yanbin Liu, Lizheng Qin, RunTao Zhuang, Xin Huang, Ming Su, Zhengxue Han
PURPOSE: Submandibular gland cancer is relatively rare. The purpose of this study was to estimate 5-year overall survival (OS) and disease-free survival (DFS) and to identify prognostic factors associated with OS and DFS for submandibular cancer. MATERIALS AND METHODS: The authors implemented a retrospective cohort study and enrolled a sample of patients with submandibular gland cancer. The predictor variables were age, gender, tumor stage, nodal stage, margin status, and extracapsular spread...
November 21, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29227787/major-destructive-asymptomatic-lumbar-charcot-lesion-treated-with-three-column-resection-and-short-segment-reconstruction-case-report-treatment-strategy-and-review-of-literature
#8
Kestutis Valancius, Gaurav Garg, Madalina Duicu, Ebbe Stender Hansen, Cody Bunger
Charcot's spine is a long-term complication of spinal cord injury. The lesion is often localized at the caudal end of long fusion constructs and distal to the level of paraplegia. However, cases are rare and the literature relevant to the management of Charcot's arthropathy is limited. This paper reviews the clinical features, diagnosis, and surgical management of post-traumatic spinal neuroarthropathy in the current literature. We present a rare case of adjacent level Charcot's lesion of the lumbar spine in a paraplegic patient, primarily treated for traumatic spinal cord lesion 39 years before current surgery...
2017: SICOT-J
https://www.readbyqxmd.com/read/29227569/new-diagnosis-of-bullous-pemphigoid-after-withdrawal-of-immunosuppressive-therapy-in-a-failed-renal-transplant-recipient-on-hemodialysis
#9
Sohail Abdul Salim, Litty Thomas, Amanda Quorles, Seyed Mehrdad Hamrahian, Tibor Fülöp
The occurrence of the autoimmune blistering disease, bullous pemphigoid (BP), in patients with failed renal allograft is rare and the few reported cases suggest various provocative factors without reaching a consensus. Here we report the case of a patient presenting with bullous lesions soon after the complete discontinuation of immunosuppressant therapy following renal allograft failure. Skin biopsy confirmed the diagnosis of BP. Administration of systemic corticosteroid controlled the occurrence of BP lesions in our patient...
December 11, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/29227565/limited-utility-of-routine-chest-x-ray-in-initial-evaluation-of-neutropenic-fever-in-patients-with-haematological-diseases-undergoing-chemotherapy
#10
Ortis Estacio, Zoe Loh, Amy Baker, Geoff Chong, Andrew Grigg, Leonid Churilov, Eliza A Hawkes
BACKGROUND: Routine chest X-Ray (CXR) is recommended for neutropenic fever(NF) management however its role is relatively understudied in haematology patients. METHODS: Retrospective, single-centre analysis of haematology patients admitted with NF between January 2011-December 2015. Baseline demographics, treatment details and outcomes were collected from electronic patient records. CXRs underwent independent radiology review. Primary endpoints were proportion of NF episodes in which CXR detected a probable chest infection in the absence of respiratory symptoms/signs, and/or resulted in a change in antibiotic management...
December 11, 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/29227330/total-bile-acid-levels-are-associated-with-left-atrial-volume-and-cardiac-output-in-patients-with-cirrhosis
#11
Andrei M Voiosu, Signe Wiese, Theodor A Voiosu, Jens Hove, Flemming Bendtsen, Søren Møller
BACKGROUND AND AIMS: Bile acids (BAs) are potent signaling molecules involved in the regulation of several metabolic and functional aspects of cardiovascular homeostasis. BA pool alteration in cirrhosis may contribute toward the development of hemodynamic and cardiac disturbances. We aimed to investigate the association between total BA levels and echocardiographic and biochemical markers of cardiac dysfunction in cirrhotic patients. METHODS: Cirrhotic patients were enrolled prospectively in this hypothesis-generating study and evaluated for cardiac and hemodynamic dysfunction through clinical, echocardiographic, and biochemical means...
December 8, 2017: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29227280/proapoptotic-puma-targets-stem-like-breast-cancer-cells-to-suppress-metastasis
#12
Qi Sun, Jacqueline Lesperance, Hiromi Wettersten, Elaine Luterstein, Yoko S DeRose, Alana Welm, David A Cheresh, Jay S Desgrosellier
Breast cancer cells with stem cell properties are key contributors to metastatic disease, and there remains a need to better understand and target these cells in human cancers. Here, we identified rare stem-like cells in patients' tumors characterized by low levels of the proapoptotic molecule p53-upregulated modulator of apoptosis (PUMA) and showed that these cells play a critical role in tumor progression that is independent of clinical subtype. A signaling axis consisting of the integrin αvβ3, Src kinase, and the transcription factor Slug suppresses PUMA in these cells, promoting tumor stemness...
December 11, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29227269/reye-ray-s-syndrome-a-problem-everyone-should-remember
#13
I Chornomydz, O Boyarchuk, A Chornomydz
Reye syndrome is a rare but a very dangerous emergency that children and teenagers suffer. This threatening condition occurs during the treatment of fever in the clinical course of viral diseases with drugs containing acetylsalicylic acid and other salicylates. The high mortality rate from this disease is associated with the development of a rapidly progressing toxic encephalopathy and hepatic insufficiency. The etiology and pathogenesis of the Reye syndrome, despite the large number of investigations, is not clear enough...
November 2017: Georgian Medical News
https://www.readbyqxmd.com/read/29226871/increased-serum-acylated-ghrelin-levels-in%C3%A2-patients-with-mild-cognitive-impairment
#14
Xi Cao, Min Zhu, Yan He, Wenzheng Chu, Yifeng Du, Heng Du
Ghrelin is a stomach-derived circulating hormone. In addition to its function as an orexigenic stimulant, the role of ghrelin in the consolidation of learning and memory has been implicated in recent years. However, the status of circulating acylated ghrelin (AG, that is, the functional form of ghrelin) in the symptomatic predementia stage of Alzheimer's disease (AD) has rarely been investigated. In the current study, we examined the serum levels of acylated and total ghrelin in 22 patients with mild cognitive impairment (MCI) and 30 cognitively normal controls...
December 2, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29226866/11c-cft-pet-in-presymptomatic-ftdp-17-a-potential-biomarker-predicting-onset
#15
Liyong Wu, Jia Liu, Xueyan Feng, Jing Dong, Wei Qin, Yang Liu, Jingjuan Wang, Jie Lu, Kewei Chen, Yuping Wang, Jianping Jia
Frontotemporal dementia with parkinsonism-linked to chromosome 17 (FTDP-17) is a rare autosomal dominant neurodegenerative disorder. Most patients with FTDP-17 carry the mutation in the microtubule-associated protein tau (MAPT) gene. Striatum is predominantly and early affected in FTDP-17. Five family members (two symptomatic patients and three presymptomatic mutation carriers) from a Chinese pedigree of FTDP-17 with N279K mutation in MAPT were enrolled. Parkinsonism was the initial symptom for symptomatic patients...
December 6, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29226721/investigational-drugs-in-phase-i-and-phase-ii-clinical-trials-for-hereditary-angioedema
#16
Henriette Farkas, Márta Lídia Debreczeni, Kinga Viktória Kőhalmi
Hereditary angioedema (HAE) with C1-inhibitor deficiency (C1-INH-HAE) is a rare bradykinin-mediated disease characterized by recurrent subcutaneous and/or submucosal angioedematous attacks (HAE attacks), which occur unpredictably. The recurrent HAE attacks do not respond to conventional treatments, and may evolve into a life-threatening condition; therefore, special therapy is required. Areas covered: The agents used so far for the acute management of HAE attacks act by blocking the release of bradykinin, or its binding to its receptor...
December 11, 2017: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/29226690/low-levels-of-endothelial-progenitor-cells-and-their-association-with-systemic-inflammation-and-monocyte-activation-in-older-hiv-infected-men
#17
Sophie Seang, Theodoros Kelesidis, Diana Huynh, Sangeun Park, Ardis Moe, Judith Currier, Jordan E Lake
BACKGROUND: Endothelial progenitor cells (EPCs) repair damaged vascular endothelium and low circulating EPC levels have been associated with cardiovascular disease (CVD). CD34+/KDR+ EPCs are commonly reported in literature and CD34+/CD133+/KDR+ EPCs are rare in circulation but highly specific for endothelial lineage. HIV-infected (HIV+) adults have chronic inflammation and increased CVD risk, but the relationship between CVD, vascular inflammation and EPCs in HIV remains unclear. METHODS: In a pilot study, EPCs were measured in 57 HIV+ men (≧50 years old, HIV-1 RNA <50 copies/mL on ART) by real-time flow cytometry using cellular immaturity (CD34 and/or CD133) and endothelial commitment (KDR) markers...
December 10, 2017: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/29226593/the-face-in-marfan-syndrome-a-3d-quantitative-approach-for-a-better-definition-of-dysmorphic-features
#18
Claudia Dolci, Valentina Pucciarelli, Daniele M Gibelli, Marina Codari, Susan Marelli, Giuliana Trifirò, Alessandro Pini, Chiarella Sforza
INTRODUCTION: Marfan syndrome (MFS) is a rare hereditable disorder of connective tissue caused by mutations in the fibrillin-1 gene FBN1. Timely diagnosis of MFS is essential to prevent life-threatening cardiovascular complications; nevertheless it can be difficult owing to the phenotypic variability of the syndrome. No clear quantitative definition of facial abnormalities associated with MFS is available. The aim of this study was to improve the definition of the facial phenotype associated with MFS and to verify the usefulness of a 3D noninvasive quantitative approach for its early recognition...
December 11, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/29226564/-lowe-syndrome-a-particularly-severe-phenotype-without-clinical-kidney-involvement
#19
Abdalla Etesam, El-Beheiry Ahmed, Dieterich Klaus, Thevenon Julien, Fauré Julien, Rendu John
Lowe syndrome (LS) is a very rare disorder of phosphatidylinositol metabolism, which manifests with a complex phenotype comprising a clinical triad encompassing major abnormalities of the eyes, the kidneys, and the central nervous system. We are reporting a 23-year-old Egyptian male with a severe phenotype of LS with a minimal kidney disease. Direct sequencing of the OCRL gene detected a p.His375Arg mutation in the catalytic domain of the protein. The patient suffered from bilateral congenital cataracts and glaucoma, striking growth deficiency, severe psychomotor disability, a severe osteopathy, and seizures, but only minimal renal dysfunction...
December 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29226142/computational-exploration-for-lead-compounds-that-can-reverse-the-nuclear-morphology-in-progeria
#20
Shailima Rampogu, Ayoung Baek, Minky Son, Amir Zeb, Chanin Park, Raj Kumar, Gihwan Lee, Donghwan Kim, Yeonuk Choi, Yeongrae Cho, Yohan Park, Seok Ju Park, Keun Woo Lee
Progeria is a rare genetic disorder characterized by premature aging that eventually leads to death and is noticed globally. Despite alarming conditions, this disease lacks effective medications; however, the farnesyltransferase inhibitors (FTIs) are a hope in the dark. Therefore, the objective of the present article is to identify new compounds from the databases employing pharmacophore based virtual screening. Utilizing nine training set compounds along with lonafarnib, a common feature pharmacophore was constructed consisting of four features...
2017: BioMed Research International
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