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https://www.readbyqxmd.com/read/29904455/high-grade-atrioventricular-block-in-von-recklinghausen-disease-a-rare-phenomenon
#1
Glenmore Lasam, Marcelina Lasam
A case of a 73-year-old woman with a history of von Recklinghausen disease (neurofibromatosis type 1) who presented initially with a gradual onset of shortness of breath and lightheadedness with no associated fever, chills, angina, palpitations, cough, weight loss, night sweats, nausea, vomiting, or constipation. She was found to be severely bradycardic and in third degree atrioventricular block by her primary care physician. She was admitted in the hospital because of intermittent bouts of lightheadedness and progression of the shortness of breath...
June 2018: Cardiology Research
https://www.readbyqxmd.com/read/29903399/von-recklinghausen-disease-associated-with-colon-cancer-dangerous-friendships
#2
A Sánchez Hernández, J F López-Caleya, I Viñuela Díaz-Moro
No abstract text is available yet for this article.
June 11, 2018: Revista Clínica Española
https://www.readbyqxmd.com/read/29887588/-case-report-multiple-gastrointestinal-stromal-tumors-of-the-small-intestine-associated-with-von-recklinghausen-disease
#3
Akihiro Hayashi, Mirai Edano, Kazunori Maeda, Atsushi Yanagitani, Kiwamu Tanaka, Hajime Isomoto
Abdominal ultrasonography revealed a low echoic mass in the upper abdomen of a 65-year-old man. He was referred to our department, where abdominal CT revealed a tumor with a 30-mm contrast effect on the distal side of the inferior part of the duodenum. Endoscopy revealed a submucosal tumor in the same region, and ultrasonic endoscopy showed a low echoic mass with a clear boundary derived from the muscle layer. The duodenum was partially resected based on a diagnosis of suspected gastrointestinal stromal tumors (GIST), and the skin tumor was simultaneously resected...
2018: Nihon Shokakibyo Gakkai Zasshi, the Japanese Journal of Gastro-enterology
https://www.readbyqxmd.com/read/29881755/data-cleaning-in-the-evaluation-of-a-multi-site-intervention-project
#4
Gavin Welch, Friedrich von Recklinghausen, Andreas Taenzer, Lucy Savitz, Lisa Weiss
Context: The High Value Healthcare Collaborative (HVHC) sepsis project was a two-year multi-site project where Member health care delivery systems worked on improving sepsis care using a dissemination & implementation framework designed by HVHC. As part of the project evaluation, participating Members provided 5 data submissions over the project period. Members created data files using a uniform specification, but the data sources and methods used to create the data sets differed...
December 15, 2017: EGEMS
https://www.readbyqxmd.com/read/29881754/the-truth-is-in-the-data-differences-in-the-same-measure-based-on-different-sources-among-hvhc-members-using-icu-length-of-stay-as-an-example
#5
Friedrich Maximilian von Recklinghausen, Andreas Taenzer, Chrissie Gorman, Jay Knowlton, Allison Kinslow, Ron Russell
Introduction: Intensive Care Unit (ICU) length of stay is a strong indicator of severity of illness and cost in the care of sepsis patients. In this case study, we examine the difference between an electronic health record (EHR) based submissions with Centers for Medicare and Medicaid Services (CMS) payment data. Methods: Member submitted EHR data contained 26,733 unique patient's records. The CMS data contained demographics, diagnosis, and revenue codes. After linking EHR data to CMS data, we found a discrepancy in ICU days from CMS claims vs...
December 15, 2017: EGEMS
https://www.readbyqxmd.com/read/29881753/a-framework-for-aligning-data-from-multiple-institutions-to-conduct-meaningful-analytics
#6
Jay Knowlton, Tom Belnap, Bonnie Patelesio, Elisa L Priest, Friedrich von Recklinghausen, Andreas H Taenzer
Introduction: Health systems can be supported by collaborative networks focused on data sharing and comparative analytics to identify and rapidly disseminate promising care practices. Standardized data collection, quality assessment, and cleansing is a necessary process to facilitate meaningful analytics for operations, quality improvement, and research. We developed a framework for aligning data from health care delivery systems using the High Value Healthcare Collaborative central registry...
December 15, 2017: EGEMS
https://www.readbyqxmd.com/read/29881752/a-data-driven-approach-to-achieving-high-value-healthcare
#7
Lucy A Savitz, Lisa T Weiss
The purpose of this special issue is to disseminate learning from the High Value Healthcare Collaborative (HVHC). The HVHC is a voluntary, member-led organization based on trusted, working relationships among delivery system leaders. HVHC's mission is to be a provider-based learning health system committed to improving healthcare value through data, evidence, and collaboration. We begin by describing the organization and structure of HVHC in order to lay the context for a series of papers that feature work from this learning health system...
December 15, 2017: EGEMS
https://www.readbyqxmd.com/read/29795773/hepatic-periportal-retroperitoneal-and-mesenteric-neurofibromatosis-in-von-recklinghausen-s-disease
#8
Kumail Khandwala, Zafar Sajjad, Summar-Un-Nisa Abbasi, Muhammad Usman Tariq
We present a rare case of histologically proven neurofibromatosis of the liver, hepatic hilum, retroperitoneum, and mesentery. An adult male who had been diagnosed with neurofibromatosis (NF) type 1 underwent a computed tomography (CT) scan for abdominal pain and vomiting. The CT scan showed a large low-attenuating lesion in the region of porta hepatis which was infiltrating along portal tracts into the liver, encasing the major vessels, and extending into the retroperitoneum and mesentery. Based on the radiological findings, a differential diagnosis of plexiform neurofibroma was given, although sarcomatous transformation could not have been entirely excluded from imaging alone...
February 28, 2018: Curēus
https://www.readbyqxmd.com/read/29736289/the-rare-togetherness-of-bladder-leiomyoma-and-neurofibromatosis
#9
Cem Yucel, Salih Budak, Erdem Kisa, Orcun Celik, Zafer Kozacioglu
Neurofibromatosis Type 1 (Von Recklinghausen disease) is a common, autosomal dominant hereditary disorder characterized by involvement of multiple tissues derived from the neural crest. Urinary system involvement in neurofibromatosis is a rare condition. Leiomyoma of the bladder is a rare benign mesenchymal tumor. In this case, our experience and approach regarding the bladder leiomyoma development in a patient diagnosed with neurofibromatosis are presented and the literature data has been reviewed.
2018: Case Reports in Urology
https://www.readbyqxmd.com/read/29607552/pathophysiology-and-management-of-glaucoma-associated-with-phakomatoses
#10
REVIEW
Alisa T Thavikulwat, Deepak P Edward, Abdulrahman AlDarrab, Thasarat S Vajaranant
The phakomatoses, encephalotrigeminal angiomatosis (ETA; Sturge-Weber Syndrome), neurofibromatosis type 1 (NF1 or von Recklinghausen disease), Von Hippel-Lindau (VHL) disease, tuberous sclerosis (TSC), oculodermal melanocytosis (ODM), and phakomatosis pigmentovascularis are a group of neurocutaneous disorders that have characteristic systemic and ocular manifestations. Through many different mechanisms, they may cause glaucomatous damage of the optic nerve and subsequent vision loss varying from mild to severe...
April 1, 2018: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/29580726/-white-hemithorax-in-a-young-women-carrying-coffee-and-milk-spots
#11
S Ben Saad, M Abdenadher, M Attia, H Daghfous, F Tritar
INTRODUCTION: Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease is an autosomal dominant genetic disorder with multivisceral manifestations. We report the case of a spontaneous haemothorax in a young lady wearing this genetic pathology. CASE REPORT: A 31-year-old woman with kyphoscoliosis developed acute chest pain and dyspnea. The physical examination revealed a right pleuritic syndrome, coffee and milk spots and neurofibromas of the trunk. Biological assessment showed anemia at 6...
April 2018: Revue de Pneumologie Clinique
https://www.readbyqxmd.com/read/29541566/surgical-interventions-for-advanced-parameningeal-rhabdomyosarcoma-of-children-and-adolescents
#12
REVIEW
Paul J Choi, Joe Iwanaga, R Shane Tubbs, Emre Yilmaz
Owing to its rarity, rhabdomyosarcoma of the head and neck (HNRMS) has seldom been discussed in the literature. As most of the data is based only on the retrospective experiences of tertiary healthcare centers, there are difficulties in formulating a standard treatment protocol. Moreover, the disease is poorly understood at its pathological, genetic, and molecular levels. For instance, 20% of all histological assessment is inaccurate; even an experienced pathologist can confuse rhabdomyosarcoma (RMS) with neuroblastoma, Ewing's sarcoma, and lymphoma...
January 9, 2018: Curēus
https://www.readbyqxmd.com/read/29496081/the-endovascular-management-of-neurofibromatosis-associated-aneurysms-a-systematic-review
#13
David Bargiela, Misha M Verkerk, Ian Wee, Kiera Welman, Eugene Ng, Andrew M T L Choong
BACKGROUND: Neurofibroblastoma (NF) or Von Recklinghausen disease, is an autosomal dominant disorder affecting one in 3000 individuals. Cardinal features of NF include multiple café-au-lait macules, benign neurofibromas, and iris hamartomas. Albeit less common, vascular lesions of medium and large-sized arteries and veins are a well-recognized complication, which can lead to fatal consequences such as rupture. METHOD: A systematic review was conducted as per the Preferred Reporting Instructions for Systematic Reviews and Meta-analysis (PRISMA) guidelines utilizing PubMed, EMBASE, and Cochrane databases...
March 2018: European Journal of Radiology
https://www.readbyqxmd.com/read/29388340/early-history-of-the-different-forms-of-neurofibromatosis-from-ancient-egypt-to-the-british-empire-and-beyond-first-descriptions-medical-curiosities-misconceptions-landmarks-and-the-persons-behind-the-syndromes
#14
REVIEW
Martino Ruggieri, Andrea D Praticò, Rosario Caltabiano, Agata Polizzi
The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C.), in a Hellenistic statuette (Smyrna, 323 B.C.), in the coinage of the Parthians kings (247 B.C.) and in some 13th century monks' drawings. These earlier examples are somewhat less well defined as compared to the most recent better defined reports credited as having NF1 including an Inca child mummy (1480-1650 AD), Ulisse Aldrovandi's homuncio ("Monstrorum Historia", 1592 A...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29298970/-ocular-symptoms-in-von-recklinghausen-disease
#15
REVIEW
Mateusz Nowak, Lidia Nowak, Jacek Nowak, Piotr Chaniecki
Von Recklinghausen disease is a genetic disease with autosomal dominant, belonging to the group phakomatoses. In the clinical picture of the disease are skin lesions, eye, bone, intracranial tumors and other cancers of the extracranial location. Due to the high variability of clinical symptoms often diagnosis is delayed in cases of mild expression. The prognosis depends on the location and extent of the change and only symptomatic treatment have a tendency to change regrowth.
December 22, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29276786/endovascular-treatment-for-a-ruptured-lumbar-artery-aneurysm-in-a-patient-with-von-recklinghausen-disease
#16
T Ishigaki, R Kawasaki, H Matsuda, N Mukohara
Introduction: Vasculopathy, such as an aneurysm, stenosis, rupture, or arteriovenous fistula, in patients with neurofibromatosis type I (NF-1; von Recklinghausen disease) is well recognised. However, there has been no report regarding treatment for a ruptured lumbar artery aneurysm associated with NF-1. We present the first report of successful endovascular treatment by coil embolisation for a ruptured lumbar artery aneurysm in a patient with NF-I. Report: A 52 year old man with a history of NF-1 was referred with back pain and anaemia...
2018: EJVES Short Reports
https://www.readbyqxmd.com/read/29210711/an-autopsy-case-of-sudden-death-in-neurofibromatosis-type-1-with-pheochromocytoma-and-myocarditis
#17
Masataka Takamiya, Hisae Niitsu, Kiyoshi Saigusa
An autopsy case of sudden death in a 33-year-old man with neurofibromatosis type 1 (von Recklinghausen disease), pheochromocytoma, and myocarditis is reported. The decedent was found in his bedroom in cardiopulmonary arrest. Polypoid, elastic dermal papules on the neck, chest, abdomen, and back, and flat dark-brown macules on the chest and abdomen were observed. Flat, ovoid, dark-brown freckles were present in both axillae. Examination of the right adrenal gland revealed a tumor measuring 5 cm × 5 cm × 3 cm...
March 2018: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/29041014/colon-inflammatory-fibroid-polyp-in-a-patient-with-von-recklinghausen-s-disease-endoscopic-aspect-with-narrow-band-imaging-and-magnification
#18
Julie Benard, Jérôme Rivory, Florian Rostain, Céline Montuclard, Valérie Hervieu, Thierry Ponchon, Mathieu Pioche
No abstract text is available yet for this article.
January 2018: Endoscopy
https://www.readbyqxmd.com/read/28979620/-lisch-nodule-in-neurofibromatosis-type-1
#19
Yassine Abaloun, Yousra Ajhoun
Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Cutaneous and neurologic symptoms are the most common manifestations but it can also affect other organs including eyes, bones and other areas. Lisch nodules are the most common ocular manifestations in NF-1. They are asymptomatic small pigmented iris tumors (iris hamartomas) which can help suggest the diagnosis of NF1 as they are characteristic of this disease and mostly occur in adult patients...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28858188/spinal-deformities-in-romantic-operas
#20
Mattia Andreotti, Gaetano Caruso, Leo Massari, Michele Augusto Riva
: The librettos of several of the most famous Romantic operas contain references to disease. These operas can serve as valuable sources of information regarding how spinal deformities were understood during the nineteenth century by physicians and lay persons alike. Original librettos of the operas "Rigoletto" (1851) by Giuseppe Verdi (1813-1901) and "La Esmeralda" (1836) by Louise Bertin (1805-1877) were analyzed. In both operas, spinal deformities of Rigoletto and Quasimodo are a central issue. In detail, Quasimodo could suffer from von Recklinghausen's neurofibromatosis, while Rigoletto could be affected by sever adolescent idiopathic scoliosis...
August 29, 2017: Spine
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