keyword
MENU ▼
Read by QxMD icon Read
search

Rare disease

keyword
https://www.readbyqxmd.com/read/28651227/double-cystic-duct-preoperatively-diagnosed-and-successfully-treated-with-laparoscopic-cholecystectomy-a-case-report
#1
Atsushi Fujii, Masatsugu Hiraki, Noriyuki Egawa, Hiroshi Kono, Takao Ide, Junichi Nojiri, Junji Ueda, Hiroyuki Irie, Hirokazu Noshiro
INTRODUCTION: A single gallbladder with a double cystic duct is a very rare finding. In addition, few cases with this rare condition are preoperatively diagnosed. However, the preoperative confirmation or suspicion of this rare condition could facilitate safe laparoscopic cholecystectomy, which is a minimally invasive therapeutic modality for gallbladder disease. We herein present a case of gallstone disease in a patient with a double cystic duct who was preoperatively diagnosed and successfully treated with laparoscopic cholecystectomy...
June 13, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28651067/necrotizing-lip-infection-causing-septic-thrombophlebitis-of-the-neck-a%C3%A2-rare-variant-of-lemierre-syndrome
#2
Karl Cuddy, Nariman Saadat, Baber Khatib, Ashish Patel
Lemierre syndrome is an uncommon condition in which internal jugular vein thrombosis presents after recent oropharyngeal infection. Frequently, this is accompanied by septic emboli. This report outlines a variant of this disease process, with septic thrombophlebitis of the neck associated with a necrotizing skin infection of the lower lip and chin. A 25-year-old man with lower lip and chin swelling, initially managed with intravenous antibiotics, progressed to the development of a left facial vein thrombus, septic emboli to the lungs, and a necrotizing lower lip and chin infection that was managed with debridement, thrombectomy, and prolonged hemodynamic and pulmonary support...
June 2, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28651023/many-to-one-comparisons-after-safety-selection-in-multi-arm-clinical-trials
#3
Gerald Hlavin, Lisa V Hampson, Franz Koenig
In phase II platform trials, 'many-to-one' comparisons are performed when K experimental treatments are compared with a common control to identify the most promising treatment(s) to be selected for Phase III trials. However, when sample sizes are limited, such as when the disease of interest is rare, only a single Phase II/III trial addressing both treatment selection and confirmatory efficacy testing may be feasible. In this paper, we suggest a two-step safety selection and testing procedure for such seamless trials...
2017: PloS One
https://www.readbyqxmd.com/read/28650958/dynamics-and-impact-of-homologous-recombination-on-the-evolution-of-legionella-pneumophila
#4
Sophia David, Leonor Sánchez-Busó, Simon R Harris, Pekka Marttinen, Christophe Rusniok, Carmen Buchrieser, Timothy G Harrison, Julian Parkhill
Legionella pneumophila is an environmental bacterium and the causative agent of Legionnaires' disease. Previous genomic studies have shown that recombination accounts for a high proportion (>96%) of diversity within several major disease-associated sequence types (STs) of L. pneumophila. This suggests that recombination represents a potentially important force shaping adaptation and virulence. Despite this, little is known about the biological effects of recombination in L. pneumophila, particularly with regards to homologous recombination (whereby genes are replaced with alternative allelic variants)...
June 26, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28650931/hypertrophic-restrictive-cardiomyopathy-with-apical-thinning-a-peculiar-case-of-genotype-phenotype-correlation
#5
Pierluigi Lesizza, Marco Merlo, Giancarlo Vitrella, Gianfranco Sinagra
: Hypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy, mainly caused by mutations in genes encoding for sarcomere proteins. Even though many mutations have been recognized to be causative of HCM, specific HCM phenotypes can be rarely predicted by the genotype, possibly as a consequence of the presence of still unknown disease-modifying genes [Maron et al. (2013). Lancet 381:242-55]. In this very peculiar case of HCM hypertrophy localized to left ventricle, mid-wall segments coexisted with a restrictive filling pattern and an apical wall thinning mimicking hypoplasia of left ventricle apex...
June 24, 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/28650730/yield-of-staging-laparoscopy-for-incurable-factors-in-chinese-patients-with-advanced-gastric-cancer
#6
Jun Huang, Hongliang Luo, Chengliang Zhou, Jianjun Zhan, Xionghui Rao, Gang Zhao, Zhengming Zhu
BACKGROUND: Although the role of staging laparoscopy (SL) in detecting radiologically occult M1 disease has been widely recognized, it is seldom used in China and its clinical value based on Chinese population has been rarely reported. The aim of this study is to identify the yield of SL for Chinese patients with advanced gastric cancer (AGC) and determine the proportions of patients in whom treatment plan is altered. MATERIALS AND METHODS: The clinical data were retrospectively collected from 879 AGC patients who underwent SL without any definite signs of disseminated disease on imaging examination...
June 26, 2017: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/28650570/perioperative-braf-inhibitors-in-locally-advanced-stage-iii-melanoma
#7
Douglas Zippel, Gal Markel, Roni Shapira-Frommer, Guy Ben-Betzalel, David Goitein, Eytan Ben-Ami, Aviram Nissan, Jacob Schachter, Schlomo Schneebaum
BACKGROUND AND OBJECTIVES: Stage III malignant melanoma is a heterogeneous disease where those cases deemed marginally resectable or irresecatble are frequently incurable by surgery alone. Targeted therapy takes advantage of the high incidence of BRAF mutations in melanomas, most notably the V600E mutation. These agents have rarely been used in a neoadjuvant setting prior to surgery. METHODS: Thirteen consecutive patients with confirmed BRAF(V600E) regionally advanced melanoma deemed marginally resectable or irrresectable, were treated with BRAF inhibiting agents, prior to undergoing surgery...
June 26, 2017: Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28649651/breast-cancers-are-rare-diseases-and-must-be-treated-as-such
#8
EDITORIAL
John M S Bartlett, Wendy Parelukar
No abstract text is available yet for this article.
2017: NPJ Breast Cancer
https://www.readbyqxmd.com/read/28649619/variable-frequency-of-lrrk2-variants-in-the-latin-american-research-consortium-on-the-genetics-of-parkinson-s-disease-large-pd-a-case-of-ancestry
#9
Mario Cornejo-Olivas, Luis Torres, Mario R Velit-Salazar, Miguel Inca-Martinez, Pilar Mazzetti, Carlos Cosentino, Federico Micheli, Claudia Perandones, Elena Dieguez, Victor Raggio, Vitor Tumas, Vanderci Borges, Henrique B Ferraz, Carlos R M Rieder, Artur Shumacher-Schuh, Carlos Velez-Pardo, Marlene Jimenez-Del-Rio, Francisco Lopera, Jorge Chang-Castello, Brennie Andreé-Munoz, Sarah Waldherr, Dora Yearout, Cyrus P Zabetian, Ignacio F Mata
Mutations in Leucine-Rich Repeat Kinase 2 (LRRK2), primarily located in codons G2019 and R1441, represent the most common genetic cause of Parkinson's disease in European-derived populations. However, little is known about the frequency of these mutations in Latin American populations. In addition, a prior study suggested that a LRRK2 polymorphism (p.Q1111H) specific to Latino and Amerindian populations might be a risk factor for Parkinson's disease, but this finding requires replication. We screened 1734 Parkinson's disease patients and 1097 controls enrolled in the Latin American Research Consortium on the Genetics of Parkinson's disease (LARGE-PD), which includes sites in Argentina, Brazil, Colombia, Ecuador, Peru, and Uruguay...
2017: NPJ Parkinson's Disease
https://www.readbyqxmd.com/read/28649612/disentangling-the-neural-correlates-of-corticobasal-syndrome-and-corticobasal-degeneration-with-systematic-and-quantitative-ale-meta-analyses
#10
Franziska Albrecht, Sandrine Bisenius, Rodrigo Morales Schaack, Jane Neumann, Matthias L Schroeter
Corticobasal degeneration is a scarce neurodegenerative disease, which can only be confirmed by histopathological examination. Reported to be associated with various clinical syndromes, its classical clinical phenotype is corticobasal syndrome. Due to the rareness of corticobasal syndrome/corticobasal degeneration and low numbers of patients included in single studies, meta-analyses are particularly suited to disentangle features of the clinical syndrome and histopathology. Using PubMed, we identified 11 magnetic resonance imaging studies measuring atrophy in 22 independent cohorts with 200 patients contrasted to 318 healthy controls...
2017: NPJ Parkinson's Disease
https://www.readbyqxmd.com/read/28649595/unusual-indolent-behavior-of-leiomyosarcoma-of-the-vagina-is-observation-a-viable-option
#11
Ayatallah M Khafagy, Lauren S Prescott, Anais Malpica, Shannon N Westin
•Primary leiomyosarcoma of the vagina is a rare disease.•We identified a case of unanticipated indolent behavior of vaginal leiomyosarcoma.•Observation or hormonal therapy may be viable option for select patients.
August 2017: Gynecologic Oncology Reports
https://www.readbyqxmd.com/read/28649509/fabry-disease-four-case-reports-of-meningioma-and-a-review-of-the-literature-on-other-malignancies
#12
Beth L Thurberg, Dominique P Germain, Fernando Perretta, Iulia E Jurca-Simina, Juan M Politei
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by loss of function mutations in the GLA gene at Xq22 with subsequent functional deficiency of alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide (GL-3 or Gb3) in multiple cells types throughout the body. As with other rare metabolic disorders, little is known about the incidence of malignancies in these populations and the relationship to the underlying disease, if any. We report the occurrence of meningioma in four female patients with Fabry disease...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28649485/scedosporium-apiospermum-brain-abscesses-in-a-patient-after-near-drowning-a-case-report-with-10-year-follow-up-and-a-review-of-the-literature
#13
Sandra C Signore, Christoph P Dohm, Gunther Schütze, Mathias Bähr, Pawel Kermer
Scedosporium apiospermum is known to be a fungal pathogen affecting immunocompromised as well as non-immunodeficient patients. Although this fungus is found rarely, an infection can lead to severe and even fatal disease. Here, we describe the case of a 41-year-old female who developed multiple Scedosporium apiospermum brain abscesses after near-drowning with aspiration of contaminated mud and water. She showed various neurological symptoms. The patient recovered after removal of abscesses in combination with long-term antifungal treatment...
September 2017: Medical Mycology Case Reports
https://www.readbyqxmd.com/read/28649450/the-northwest-participant-and-clinical-interactions-network-increasing-opportunities-for-patients-to-participate-in-research-across-the-northwestern-united-states
#14
Laura-Mae Baldwin, Laurie Hassell, Cindi Laukes, Michelle Doyle, Anne Reedy, Brenda Mollis, Sandra Albritton, Elizabeth Ciemins, Robert Coker, Jeannine Brant, Katherine R Tuttle, Laura Baker, Bonnie Ramsey
INTRODUCTION: The Institute of Translational Health Sciences (ITHS) promotes and supports translational research collaboration between clinicians, communities, and investigators across the five-state Washington, Wyoming, Alaska, Montana, and Idaho (WWAMI) region. The ITHS has developed a collaborative regional clinical research network, the Northwest Participant & Clinical Interactions Network (NW PCI), involving 12 diverse clinical health systems and academic institutions. METHODS: This descriptive article details NW PCI's development, infrastructure and governance, tools, characteristics, and initial outcomes...
April 2017: Journal of clinical and translational science
https://www.readbyqxmd.com/read/28649403/inter-personal-diversity-and-temporal-dynamics-of-dental-tongue-and-salivary-microbiota-in-the-healthy-oral-cavity
#15
Michael W Hall, Natasha Singh, Kester F Ng, David K Lam, Michael B Goldberg, Howard C Tenenbaum, Josh D Neufeld, Robert G Beiko, Dilani B Senadheera
Oral microbes form a complex and dynamic biofilm community, which is subjected to daily host and environmental challenges. Dysbiosis of the oral biofilm is correlated with local and distal infections and postulating a baseline for the healthy core oral microbiota provides an opportunity to examine such shifts during the onset and recurrence of disease. Here we quantified the daily, weekly, and monthly variability of the oral microbiome by sequencing the largest oral microbiota time-series to date, covering multiple oral sites in ten healthy individuals...
2017: NPJ Biofilms and Microbiomes
https://www.readbyqxmd.com/read/28649310/lung-ultrasound-has-limited-diagnostic-value-in-rare-cystic-lung-diseases-a-cross-sectional-study
#16
Jesper Rømhild Davidsen, Elisabeth Bendstrup, Daniel P Henriksen, Ole Graumann, Christian B Laursen
Background: Lung ultrasound (LUS) used to identify interstitial syndrome (IS) and pleural thickening related to diffuse parenchymal lung disease (DPLD) has shown significant correlations with ground glass opacity (GGO) on high-resolution computed tomography (HRCT). However, the applicability of LUS in patients with DPLD subtypes as rare cystic lung diseases has not previously been investigated. This study aimed to observe if distinctive LUS findings could be found in patients with lymphangioleiomyomatosis (LAM), pulmonary Langerhans cell histiocytosis (PLCH), and Birt-Hogg-Dubé syndrome (BHDS)...
2017: European Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28649123/extraovarian-primary-peritoneal-carcinomatosis-a-case-report
#17
Gregory Nicolas, Tony Kfoury, Hassan Fawaz, Mahdi Issa
BACKGROUND Extraovarian primary peritoneal carcinoma (EOPPC) is a rare malignant epithelial tumor with an age-adjusted incidence rate of 6.78 per million, which arises from the peritoneal lining with minimal or no ovarian involvement. EOPPC is a diagnosis of exclusion with the absence of other identifiable primary sites and after surgical assessment and consideration of the histological report to evaluate the extent of ovarian invasion. CASE REPORT A 66-year-old woman complained of mild postprandial epigastric pain...
June 26, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28648513/inheritable-and-sporadic-non-autoimmune-hyperthyroidism
#18
REVIEW
Carolina Ferraz, Ralf Paschke
Hyperthyroidism is a clinical state that results from high thyroid hormone levels which has multiple etiologies, manifestations, and potential therapies. Excluding the autoimmune Graves disease, autonomic adenomas account for the most import cause of non-autoimmune hyperthyroidism. Activating germline mutations of the TSH receptor are rare etiologies for hyperthyroidism. They can be inherited in an autosomal dominant manner (familial or hereditary, FNAH), or may occur sporadically as a de novo condition, also called: persistent sporadic congenital non-autoimmune hyperthyroidism (PSNAH)...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28648390/clinical-and-microbiological-characteristics-of-unusual-manifestations-of-invasive-pneumococcal-disease
#19
Adrian Sousa, Maria Teresa Pérez-Rodríguez, Andrés Nodar, Lucía Martínez-Lamas, Francisco Jose Vasallo, Maximiliano Álvarez-Fernández, Manuel Crespo
INTRODUCTION: Invasive pneumococcal disease (IPD) typically presents as bacterial pneumonia, meningitis or primary bacteraemia. However, Streptococcus pneumoniae can produce infection at any level of the body (endocarditis, arthritis, spontaneous bacterial peritonitis, etc.), which is also known as unusual IPD (uIPD). There are very limited data available about the clinical and microbiological profile of these uncommon manifestations of pneumococcal disease. Our aim was to analyse clinical forms, microbiological profile, epidemiology and prognosis of a cohort of patients with unusual invasive pneumococcal disease (uIPD)...
June 22, 2017: Enfermedades Infecciosas y Microbiología Clínica
https://www.readbyqxmd.com/read/28648302/nephrotic-syndrome-with-cancer-immunotherapies-a-report-of-2-cases
#20
Abhijat Kitchlu, Warren Fingrut, Carmen Avila-Casado, Christopher T Chan, Michael Crump, David Hogg, Heather N Reich
Oncologic immunotherapies use a patient's immune response to eliminate tumor cells by modulation of immune checkpoints, including programmed cell death 1 (PD-1) and cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) proteins. Immune-mediated sequelae, including interstitial nephritis, have been reported; however, glomerular disease appears rare. We describe 2 cases of nephrotic syndrome in patients treated with these agents. Patient 1 received the anti-PD-1 antibody pembrolizumab for Hodgkin lymphoma. Following his second dose, he developed nephrotic syndrome and acute kidney injury...
June 22, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
keyword
keyword
14247
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"