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https://www.readbyqxmd.com/read/28545192/atypical-teratoid-rhabdoid-tumor-of-brain-a-clinicopathologic-study-of-eleven-patients-and-review-of-literature
#1
Nasir Ud Din, Abrar Barakzai, Aisha Memon, Sheema Hasan, Zubair Ahmad
Background: Atypical teratoid/ rhabdoid tumor (AT/RT) is a rare aggressive embryonal central nervous system (CNS) tumor of infancy and early childhood. Majority of the cases arise in the posterior fossa, and remaining in the cerebrum. Aims: To analyze the clinicopathologic features of AT/RT on a cohort of cases. Materials and methods: All reported cases of AT/RT at the Department of Pathology and Laboratory Medicine, Aga Khan University Hospital (AKUH) from 2007 to 2016 were reviewed for clinical and pathological features...
April 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28544919/risk-factors-for-patient-reported-errors-during-cancer-follow-up-results-from-a-national-survey-in-denmark
#2
Anne Hjøllund Christiansen, Henriette Lipczak, Janne Lehmann Knudsen, Anne Mette Tranberg Kejs
Due to an increased cancer survival, more cancer patients are referred to follow-up after primary treatment. Knowledge of patient safety during follow-up is sparse. OBJECTIVE: To examine patient-reported errors during cancer follow-up and identify factors associated with errors. DESIGN: A national survey on cancer patients' experiences of treatment and aftercare was conducted in 2012, about two years following cancer diagnosis (N=6914). Associations between patient-reported errors during follow-up and covariates were examined using multiple logistic regression...
May 22, 2017: Cancer Epidemiology
https://www.readbyqxmd.com/read/28544889/juvenile-myoclonic-epilepsy-as-a-spectrum-disorder-a-focused-review
#3
REVIEW
Betül Baykan, Peter Wolf
In consequence of newer research juvenile myoclonic epilepsy (JME) is no longer seen as a homogeneous disease. The causes of the existing variance are only partially known yet. We discuss to what extent the phenotypical spectrum of this polygenetically determined disorder expresses genetically defined endophenotypes, or is due to mere quantitative differences in the expression of the core phenotype. Of the three common seizure types of JME, myoclonic, generalized tonic-clonic and absences, absences also occur independently and are strong candidates for an endophenotype...
May 18, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28544839/isolated-right-ventricular-apical-trabecular-hypoplasia-a-case-report
#4
Qi Tan, Jie Zi, Mei Zhu, Anbiao Wang
Right ventricular (RV) hypoplasia with isolated myocardial disease and complete absence of RV trabeculae is a rare congenital heart disease, the current treatment of which is ineffective. Here, a rare case is presented of a middle-aged female patient with RV hypoplasia complicated by tricuspid regurgitation, right atrial thrombus, and atrial fibrillation. The patient was treated with a one-and-a-half ventricular repair, and showed significant improvements in cardiac function and physical activity tolerance...
January 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28544838/granulomatosis-with-polyangiitis-presenting-with-acute-aortic-and-mitral-regurgitation-case-report-and-big-data-analysis
#5
Sadeer G Al-Kindi, M Amer Al-Aiti, Michael Yang, Richard A Josephson
Granulomatosis with polyangiitis (GPA) is a rare vasculitis that can have multisystem involvement, though cardiac involvement is very rare. The case is described of a 53-year-old woman who presented with acute aortic and mitral valve regurgitation requiring surgical intervention. Pathology from the excised aortic valve showed geographic necrosis concerning for GPA. Subsequent rheumatologic testing was positive for anti-serine proteinase 3 (PR3) antibody, consistent with GPA. A year after the valve surgery the patient was found to have a vegetation of the mitral valve and elevated PR3 antibody levels, and was successfully treated with an intensification of immunosuppression...
January 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28544785/inhibition-of-cxcl12-cxcr4-axis-as-a-potential-targeted-therapy-of-advanced-gastric-carcinoma
#6
REVIEW
Li-Jun Xue, Xiao-Bei Mao, Li-Li Ren, Xiao-Yuan Chu
The whole outcome for patients with gastric carcinoma (GC) is very poor because most of them remain metastatic disease during survival even at diagnosis or after surgery. Despite many improvements in multiple strategies of chemotherapy, immunotherapy, and targeted therapy, exploration of novel alternative therapeutic targets is still warranted. Chemokine receptor 4 (CXCR4) and its chemokine ligand 12 (CXCL12) have been identified with significantly elevated levels in various malignancies including GC, which correlates with the survival, proliferation, angiogenesis, and metastasis of tumor cells...
May 23, 2017: Cancer Medicine
https://www.readbyqxmd.com/read/28544690/deficiency-of-complement-1r-subcomponent-in-early-onset-sle-role-for-disease-modifying-alleles-in-a-monogenic-disease
#7
Erkan Demirkaya, Qing Zhou, Carolyne K Smith, Michael J Ombrello, Natalie Deuitch, Wanxia L Tsai, Patrycja Hoffmann, Elaine F Remmers, Masaki Takeuchi, Yong Hwan Park, JaeJin Chae, Kenan Barut, Dogan Simsek, Amra Adrovic, Sezgin Sahin, Salim Caliskan, Settara C Chandrasekharappa, Sarfaraz A Hasni, Amanda K Ombrello, Massimo Gadina, Daniel L Kastner, Mariana J Kaplan, Ozgur Kasapcopur, Ivona Aksentijevich
OBJECTIVE: To identify a genetic cause of early-onset systemic lupus erythematosus (SLE) in a large consanguineous family from Turkey and to study the mechanisms of disease. METHODS: We performed whole exome sequencing (WES) and SNP array genotyping in affected and unaffected family members. Protein studies, gene expression, cytokine profiling, neutrophil extracellular trap formation, and presence of low-density granulocytes were evaluated in patient primary cells and serum samples...
May 23, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28544474/breast-cancer-and-transplantation
#8
Germaine Wong, Eric Au, Sunil V Badve, Wai H Lim
Breast cancer is an important cancer among solid organ transplant recipients. While the incidence of breast cancer in solid organ transplant recipients is comparable to the age matched general population, the outcomes are generally poor. Interventions such as cancer screening which preclude the development of late stage disease through early detection are not well-studied, and clinical practice guidelines for cancer screening rely solely on recommendations from the general population. Among those with a prior breast cancer history, disease recurrence after transplantation is a rare but fearful event...
May 19, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28544116/incidence-characteristics-and-outcome-of-solitary-plasmacytoma-and-plasma-cell-leukemia-population-based-data-from-the-swedish-myeloma-register
#9
Hareth Nahi, Anna Genell, Göran Wålinder, Katarina Uttervall, Gunnar Juliusson, Karin Forsberg, Markus Hansson, Ronald Svensson, Olle Linder, Kristina Carlson, Bo Björkstrand, Sigurdur Y Kristinsson, Ulf Henrik Mellqvist, Cecilie Blimark, Ingemar Turesson
Solitary plasmacytoma (SP) and Plasma cell leukemia (PCL) are uncommon (3-6%) types of plasma cell disease. The risk of progression to symptomatic multiple myeloma (MM) is probably important for the outcome of SP. PCL is rare and has a dismal outcome. In this study we report on incidence and survival in PCL/SP, and progression to MM in SP, using the prospective observational Swedish Multiple Myeloma Register designed to document all newly diagnosed plasma cell diseases in Sweden since 2008. Both solitary bone plasmacytoma (SBP), (n=124) and extramedullary plasmacytoma (EMP), (n=67) have better overall survival (OS) than MM (n=3549)...
May 22, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28544110/waardenburg-syndrome-a-rare-cause-of-inherited-neuropathy-due-to-sox10-mutation
#10
Petya Bogdanova-Mihaylova, Michael D Alexander, Raymond Pj Murphy, Sinéad M Murphy
Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy and Hirschsprung disease. Here we report a 32 year-old man with a novel heterozygous missense variant in SOX10 gene, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity and intermediate conduction velocity length-dependent sensorimotor neuropathy...
May 22, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28544089/benign-atrophic-papulosis-k%C3%A3-hlmeier-degos-disease-the-wedge-shaped-dermal-necrosis-can-resolve-with-time
#11
Christos C Zouboulis, Athanasios Theodoridis, Martina Brunner, Cynthia M Magro
BACKGROUND: Atrophic papulosis is a rare thrombo-occlusive disease, characterized by the appearance of multiple atrophic porcelain-white skin papules, with a surrounding erythematous rim, which are histologically consisting of wedge-shaped necrosis of the dermis. OBJECTIVE: It consists of two variants: a) the benign atrophic papulosis (BAP) only involving the skin and b) the malignant atrophic papulosis (MAP) also involving several internal organs with a cumulative 5-year survival rate of approx...
May 23, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28544044/carcinoma-ex-basal-cell-adenoma-of-the-parotid-gland-a-report-of-an-extremely-rare-case
#12
Kimihide Kusafuka, Takuya Kawasaki, Takashi Nakajima, Takashi Sugino
Malignant non-basaloid tumors that arise from basal cell adenoma (BCA) are extremely rare. The patient was a 72-year-old Japanese male, who had noticed swelling of the left parotid region 21 years ago. A superficial lobectomy was performed. About 60% of the tumor was made up of cribriform and trabecular tissue composed of basaloid cells, which exhibited mild atypia and nuclear expression of β-catenin. This portion of the tumor was considered to be a BCA. In the other part of the tumor, the proliferation of large eosinophilic atypical cells, most of which formed intraductal structures, was observed...
May 19, 2017: Pathology International
https://www.readbyqxmd.com/read/28543939/symptom-appraisal-help-seeking-and-lay-consultancy-for-symptoms-of-head-and-neck-cancer
#13
J A Queenan, Benjamin Gottlieb, Deb Feldman-Stewart, Stephen Hall, Jonathan Irish, Patti Groome
BACKGROUND: Early diagnosis is important in head and neck cancer (HNC) patients in order to maximize the effectiveness of the treatments and minimize the debilitation associated with both the cancer and the invasive treatments of advanced disease. Many patients present with advanced disease, and there is little understanding as to why. This study investigated patients' symptom appraisal, help-seeking and lay-consultancy up to the time they first went to see a health care professional (HCP)...
May 23, 2017: Psycho-oncology
https://www.readbyqxmd.com/read/28543889/a-clinical-variant-of-a-rare-hyperkeratotic-disease
#14
J S Mounessa, D Shagalov, A Levine, S A Glick
No abstract text is available yet for this article.
May 22, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28543794/loss-of-arid1a-expression-is-associated-with-poor-prognosis-in-invasive-micropapillary-carcinomas-of-the-breast-a-clinicopathologic-and-immunohistochemical-study-with-long-term-survival-analysis
#15
Semen Onder, Merdan Fayda, Hasan Karanlık, Aysel Bayram, Fatma Şen, Neslihan Cabioglu, Sıtkı Tuzlalı, Rıdvan İlhan, Ekrem Yavuz
Invasive micropapillary carcinoma (IMPC) of the breast is a highly aggressive and a rare subtype of breast cancer. In this study, we aimed to investigate differences between pure and mixed IMPCs of the breast in terms of clinicopathologic features, and also to analyze the significance of expressions of ARID1A and bcl-2 regarding prognosis. Sixty-nine of IMPCs consisting of 21 pure and 48 mixed type diagnosed at Pathology Department of Istanbul Medical Faculty between 2000 and 2011, who had complete follow-up data, were collected to analyze ARID1A and bcl-2 expressions immunohistochemically with prognosis...
May 23, 2017: Breast Journal
https://www.readbyqxmd.com/read/28543710/presentation-diagnosis-and-management-of-popliteal-artery-entrapment-syndrome-11-years-of-experience-with-61-legs
#16
Luc Corneloup, Claude Labanère, Laurent Chevalier, Jérémie Jaussaud, Aude Mignot, Laurent Gencel, Olivier Corneloup, Dominique Midy
BACKGROUND: Popliteal Artery Entrapment Syndrome (PAES) is still underdiagnosed yet it may significantly interfere with lifestyle, especially among young sportspeople, with symptoms like intermittent claudication. While case reports and small case series are sometimes published, studies with larger populations are quite rare. METHODS: This study summarizes our experience with PAES on 61 limbs (35 patients) over a period of 11 years, describing the demographics, the disease and the diagnostic and therapeutic methods used with PAES patients...
May 19, 2017: Scandinavian Journal of Medicine & Science in Sports
https://www.readbyqxmd.com/read/28543532/intraepidermal-merkel-cell-carcinoma-a-case-series-of-a-rare-entity-with-clinical-follow-up
#17
George Jour, Phyu P Aung, Eduardo Rozas-Muñoz, Johnathan L Curry, Victor Prieto, Doina Ivan
BACKGROUND: Merkel cell carcinoma (MCC) is a rare but aggressive cutaneous carcinoma. MCC involves typically dermis and although epidermotropism has been reported, MCC strictly intraepidermal or in situ (MCCIS) is exceedingly rare. Most of the cases of MCCIS described so far have associated other lesions, such as squamous or basal cell carcinoma, actinic keratosis, etc. Herein, we describe three patients with MCC strictly in situ, without a dermal component. METHODS: Our patients were elderly, two of the lesions involved the head and neck area and one was on a finger...
May 23, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28542837/phenotype-and-natural-history-of-variant-late-infantile-ceroid-lipofuscinosis-5
#18
Alessandro Simonati, Ruth E Williams, Nardo Nardocci, Minna Laine, Roberta Battini, Angela Schulz, Barbara Garavaglia, Francesca Moro, Francesco Pezzini, Filippo M Santorelli
AIM: To characterize the phenotypic profile of a cohort of children affected with CLN5, a rare form of neuronal ceroid-lipofuscinosis (NCL), and to trace the features of the natural history of the disease. METHOD: Records of 15 children (nine males, six females) were obtained from the data sets of the DEM-CHILD International NCL Registry. Disease progression was measured by rating six functional domains at different time points along the disease course. All patients underwent mutation analysis of the CLN5 gene and ultrastructural investigations of peripheral tissues...
May 25, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28542792/on-the-complexity-of-clinical-and-molecular-bases-of-neurodegeneration-with-brain-iron-accumulation
#19
REVIEW
Cristina Tello, Alejandra Darling, Vincenzo Lupo, Belén Pérez-Dueñas, Carmen Espinós
Neurodegeneration with brain iron accumulation (NBIA) are a group of inherited heterogeneous neurodegenerative rare disorders. These patients present with dystonia, spasticity, parkinsonism and neuropsychiatric disturbances, along with brain MRI evidence of iron accumulation. In sum, they are devastating disorders and to date, there is no specific treatment. Ten NBIA genes are accepted: PANK2, PLA2G6, C19orf12, COASY, FA2H, ATP13A2, WDR45, FTL, CP, and DCAF17, and. Nonetheless, a relevant percentage of patients remain without genetic diagnosis, suggesting that other novel NBIA genes remain to be discovered...
May 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28542676/detailed-clinical-phenotype-and-molecular-genetic-findings-in-cln3-associated-isolated-retinal-degeneration
#20
Cristy A Ku, Sarah Hull, Gavin Arno, Ajoy Vincent, Keren Carss, Robert Kayton, Douglas Weeks, Glenn W Anderson, Ryan Geraets, Camille Parker, David A Pearce, Michel Michaelides, Robert E MacLaren, Anthony G Robson, Graham E Holder, Elise Heon, F Lucy Raymond, Anthony T Moore, Andrew R Webster, Mark E Pennesi
Importance: Mutations in genes traditionally associated with syndromic retinal disease are increasingly found to cause nonsyndromic inherited retinal degenerations. Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration, but have recently also been identified in patients with nonsyndromic inherited retinal degenerations. To our knowledge, detailed clinical characterization of such cases has yet to be reported...
May 25, 2017: JAMA Ophthalmology
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