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https://www.readbyqxmd.com/read/28437673/successful-primary-repair-of-late-diagnosed-spontaneous-esophageal-rupture-a-case-report
#1
Diana Y Kircheva, Wickii T Vigneswaran
INTRODUCTION: Spontaneous esophageal rupture is rare, roughly 300 cases reported annually. Diagnosis is often delayed or missed. Overall mortality is about 20%. This feared high mortality rate has led to the misconception that primary esophageal repair should be avoided in late diagnosed patients. We report a successful primary repair of spontaneous esophageal rupture which was delayed for more than two weeks. METHODS: A 53 year-old male presented to our medical service after falsely having been treated for pneumonia at an outside hospital...
April 1, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28437672/eosinophilic-funiculitis-initially-diagnosed-as-irreducible-inguinal-hernia-a-case-report
#2
Kohei Yamada, Akashi Ikubo, Shota Ikeda, Satoko Koga, Yasuhiro Tsuru, Hideo Kuroki, Naohiko Koya, Ryuichiro Samejima, Masashi Sakai, Masanobu Tabuchi, Seiji Yunotani, Shinichi Kido, Kazushige Nishimura, Hiroyuki Meiri
BACKGROUND: Most groin masses are first suspected to be groin hernias. More than 80% of bulging groin lesions are reportedly diagnosed as hernias by ultrasonography. Establishment of the correct diagnosis of hernia among all differential diagnoses is not easy. We herein describe a very rare case of groin eosinophilic funiculitis that presented as an irreducible groin hernia. CASE PRESENTATION: A 59-year-old man presented to our hospital with suspicion of a right groin hernia...
April 5, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28437671/a-case-report-on-esophageal-tuberculosis-a-rare-entity
#3
Vatsal Khanna, Abhilash Kumar, Naveen Alexander, Parmasivam Surendran
This is a case report of a rare form of tuberculosis in a patient presenting with dysphagia. Patient was subjected to upper gastrointestinal endoscopy, which revealed an ulcerative growth in the distal esophagus. Histopathology revealed esophageal tuberculosis. Patient was managed conservatively with Anti-Tuberculosis Treatment (ATT). Follow up endoscopy after two months revealed resolution of the growth and patient was symptomatically better. In spite of the rare nature of the disease, it can be managed effectively with ATT to avoid complications (fistula, stricture, and esophageal perforation), which might warrant surgery...
April 3, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28437579/mosaic-trisomy-1q-a-recurring-chromosome-anomaly-that-is-a-diagnostic-challenge-and-is-associated-with-a-fryns-like-phenotype
#4
Kathleen M Bone, Judy E Chernos, Renee Perrier, A Micheil Innes, Francois P Bernier, Ross McLeod, Mary Ann Thomas
OBJECTIVE: Trisomy of the long arm of chromosome 1 is a very rare cytogenetic anomaly that is difficult to diagnose due to tissue-limited mosaicism. This study aimed to further characterize the prenatal and postnatal findings associated with this anomaly, including the first reported chromosomal microarray finding. METHOD: This is a retrospective study of 6 cases of mos 46,X,der(Y)t(Y;1)(q12;q21)/46,XY diagnosed both pre- and postnatally. Detailed clinical features and pregnancy outcome were documented...
April 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28437501/pronator-teres-myotendinous-tear
#5
Usama Qayyum, Diego Villacis, Charles M Jobin
Pronator teres muscle strain is a rare sporting injury reported thus far only in cricket and golf players. The injury appears to occur when the sporting club or racket strikes the ground during a forceful swing and causes the elbow to experience an eccentric force during resisted elbow flexion and pronation. On initial presentation, this injury can be mistaken for injury to the medial ulnar collateral ligament, or exacerbation of medial epicondylitis. On examination, bruising and tenderness distal to the elbow over the course of the pronator teres are often present...
March 2017: American Journal of Orthopedics
https://www.readbyqxmd.com/read/28437498/superior-mesenteric-artery-syndrome-as-a-complication-of-scoliosis-surgery
#6
Philip K Louie, Bryce A Basques, Adam Bitterman, Shalin Shah, Kishan Patel, Isaac Abramchayev, Jonathan Lewin
Superior mesenteric artery (SMA) syndrome is a rare and potentially life-threatening complication of scoliosis surgery. The anatomical relationship of the duodenum and the superior mesenteric artery, the correction of angular deformity of the spine, and the normal adolescent growth spurt all contribute to the condition. We report the case of a 14-year-old boy who had a history of idiopathic scoliosis and presented with bilious vomiting that had persisted for 7 days after posterior T9-L4 fusion with instrumentation...
March 2017: American Journal of Orthopedics
https://www.readbyqxmd.com/read/28437494/patellofemoral-pain-an-enigma-explained-by-homeostasis-and-common-sense
#7
William R Post, Scott F Dye
We present a rational, scientific, low-risk approach to patellofemoral pain (anterior knee pain) based on an understanding of tissue homeostasis. Loss of tissue homeostasis from overload and/or injury produces pain. Bone overload and synovial inflammation are common sources of such pain. Chondromalacia and malalignment are findings that almost always do not need to be "corrected" to relieve pain. Patience and persistence in nonoperative care results in consistent success. Surgery should be rare and done only after extensive nonoperative management and in the setting of clearly defined pathology...
March 2017: American Journal of Orthopedics
https://www.readbyqxmd.com/read/28437271/surgical-management-of-traumatic-peripheral-osteoma-of-the-mandible
#8
André Bachega Gomes Geron, Vinícius Almeida Carvalho, Jessica Luana Dos Santos, Luciana Yamamoto Almeida, Jorge Esquiche León, Alexandre Elias Trivellato, Cássio Edvard Sverzut
Osteomas are benign osteogenic lesions that result from the proliferation of mature bone. Three variants are known: central, peripheral, and extraskeletal. The peripheral variant is the most common and it most frequently affects the paranasal sinuses, rarely occurring in the jaws. This article describes the case of a 33-year-old white male patient who was referred complaining of facial asymmetry. Clinical examination revealed an increase in volume at the base of the right side of the mandible, hard bony consistency and well delimited, painless to the touch, without signs of infection or intraoral alterations...
April 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28437265/unilateral-blindness-after-septoplasty
#9
Ahmet Erdem Kilavuz, Duzgun Yildirim, Gediz Murat Serin, Asim Kaytaz
Septoplasty is a frequently performed procedure with mostly minor complications. Nevertheless, it may lead to serious complications.The authors present a 29-year-old patient admitted to their hospital 10 days after septoplasty in another institution. He suffered a total loss of vision immediately after the surgery.High-resolution computed tomography and magnetic resonance imaging revealed a direct trauma of the optic canal and an inflamed and edematous optic nerve. Even though a successful endoscopic optic nerve was performed, the patient's loss of vision did not improve after the surgery...
April 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28436605/digeorge-like-syndrome-in-a-child-with-a-3p12-3-deletion-involving-mir4273-gene-born-to-a-mother-with-gestational-diabetes-mellitus
#10
Emilia Cirillo, Giuliana Giardino, Vera Gallo, Giovanni Galasso, Roberta Romano, Roberta D'Assante, Giulia Scalia, Luigi Del Vecchio, Lucio Nitsch, Rita Genesio, Claudio Pignata
Chromosome 22q11.2 deletion is the most common chromosomal alteration associated with DiGeorge syndrome (DGS), even though this is not the only underlying cause of DGS. In rare patients, mutations in a single gene, TBX1, have been described resulting in a DGS phenotype. Recently, it has been reported that at least part of the TBX1 mutant phenotype is due to excessive bone morphogenetic proteins (BMP) signaling. Evidence suggests that miRNA may modulate the expression of critical T-box transcriptional regulators during midface development and Bmp-signaling...
April 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28436541/pdx1-mody-and-dorsal-pancreatic-agenesis-new-phenotype-of-a-rare-disease
#11
L A Caetano, L S Santana, A D Costa-Riquetto, A M Lerario, M Nery, G F Nogueira, C D Ortega, M S Rocha, Aal Jorge, M G Teles
Maturity-Onset Diabetes of the Young (MODY) type 4 or PDX1-MODY is a rare form of monogenic diabetes caused by heterozygous variants in PDX1. Pancreatic developmental anomalies related to PDX1 are reported only in neonatal diabetes cases. Here, we describe dorsal pancreatic agenesis in two patients with PDX1-MODY. The proband presented with diabetes since 14 years of age and maintained regular glycemic control with low doses of basal insulin and detectable C-peptide levels after 30 years with diabetes. A diagnosis of MODY was suspected...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28436534/a-novel-trpa1-variant-is-associated-with-carbamazepine-responsive-cramp-fasciculation-syndrome
#12
M J Nirenberg, R Chaouni, T M Biller, R M Gilbert, C Paisán-Ruiz
Cramp-fasciculation syndrome (CFS) is a rare muscle hyperexcitability syndrome that presents with muscle cramps, fasciculations, and stiffness, as well as pain, fatigue, anxiety, hyperreflexia, and paresthesias. Although familial cases have been reported, a genetic etiology has not yet been identified. We performed whole-exome sequencing followed by validation and cosegregation analyses on a father-son pair with CFS. Both subjects manifested other hypersensitivity-hyperexcitability symptoms, including asthma, gastroesophageal reflux, migraine, restless legs syndrome, tremor, cold hyperalgesia, and cardiac conduction defects...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28436521/well-incorporation-of-carbon-nanodots-with-silicon-nanowire-arrays-featuring-excellent-photocatalytic-performances
#13
Chia-Yun Chen, Po-Hsuan Hsiao, Ta-Cheng Wei, Ting-Chen Chen, Chien-Hsin Tang
Recently, silicon (Si) nanowires have been intensively applied for a wide range of optoelectronic applications. Nevertheless, rare explorations considering the photodegradation of organic pollutants based on Si nanowires were performed, and they still require vast improvement, in particular for their degradation efficiency. In this study, broad-band and high efficiency photocatalytic systems were demonstrated through the good incorporation of Si nanowires with highly fluorescent carbon nanodots. The photodegradation rate of these intriguing heterostructure arrays under a 580 nm light illumination is approximately 6 times higher than that of sole Si nanowires, and more than 3...
April 24, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28436367/bilateral-obstructing-ureteric-calculi-in-pregnancy-a-rare-cause-of-acute-renal-failure
#14
Todd G Manning, Daniel Christidis, David Wetherell, Ruth Cameron-Jeffs, Nathan Lawrentschuk
Bilateral obstructing ureteric calculi is a rare cause of acute renal failure. Although urolithiasis in later pregnancy is not uncommon, the development of bilateral obstruction secondary to ureteric calculi in the first trimester is rare and poses difficulty to diagnosis and management. Symptoms of diseases and physiological changes associated with pregnancy can obscure diagnosis of urolithiasis and obstructive uropathy. Advances in minimally invasive endourology afford intervention with reduced risk to fetal health...
April 2017: Canadian Journal of Urology
https://www.readbyqxmd.com/read/28436317/endoureteral-coil-embolization-of-an-ureteral-arterial-fistula
#15
Pavel Kibrik, Justin Eisenberg, Marc A Bjurlin, Natalie Marks, Anil Hingorani, Enrico Ascher
Background Ureteral arterial fistulas are rare but potentially life threatening. We present a female who developed a ureteral arterial fistula following a right robotic nephrectomy. After several endovascular interventions to control the bleeding had failed, we approached the fistula through the right ureteral stump with coil embolization. Methods Coil embolization of the right ureteral stump was performed. We utilized a 6Fr × 45 cm sheath inserted through one of the cystoscope channels to cannulate the right ureteral orifice...
January 1, 2017: Vascular
https://www.readbyqxmd.com/read/28436289/comparison-of-renal-anastomosing-hemangiomas-in-end-stage-and-non-end-stage-kidneys-a-meta-analysis-with-a-report-of-2-cases
#16
Neslihan Kayisoglu Berker, Aysel Bayram, Serap Tas, Baris Bakir, Yasar Caliskan, Faruk Ozcan, Isin Kilicaslan, Yasemin Ozluk
BACKGROUND: Renal anastomosing hemangioma (RAH) is a very rare distinct entity composed of anastomosing sinusoidal (spleen-like) capillary-sized vessels lined by flat or hobnail endothelial cells. Most of the published cases of RAH occurred in the setting of end-stage renal disease (ESRD). METHODS: We present 2 cases of RAH in ESRD along with a literature review. We compared clinicopathologic features of RAHs in end-stage and non-end-stage kidneys. A meta-analysis was conducted with PubMed and a manual search through references of relevant publications...
April 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28436288/ossifying-fibromyxoid-tumor-of-the-retromolar-trigone-a-case-report-and-systematic-review-of-the-literature
#17
Savvas Titsinides, Nikolaos G Nikitakis, Jason Tasoulas, Argyriοs Daskalopoulos, Lampros Goutzanis, Alexandra Sklavounou
Ossifying fibromyxoid tumor (OFMT) is a mesenchymal neoplasm of uncertain lineage and intermediate biologic behavior. Involvement of the head and neck area is infrequent (10% to 15%) and intraoral presentation is very rare. An OFMT developing in the retromolar trigone of a 13-year-old male is presented, along with a comprehensive review of oral OFMT cases. Among 12 oral OFMTs (including the present case), most patients were male (72.7%), with a mean age of 30.3 (13-67) years. The tumors generally appeared as painless masses of firm or hard consistency (mean diameter 27...
April 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28436216/energy-sensitive-ion-and-cathode-luminescent-radiation-beam-monitors-based-on-a-multilayer-thin-film-designs
#18
Jorge Gil-Rostra, Francisco Javier Ferrer, Juan Pedro Espinos, Agustín R Gonzalez-Elipe, Francisco Yubero
A multilayer luminescent design concept is presented to develop energy sensitive radiation beam monitors based on colorimetric analysis. Each luminescent layer within the stack consists of rare earth doped transparent oxides of optical quality and a characteristic luminescent emission under excitation with electron or ion beams. For a given type of particle beam (electron, protons, alpha particles, …), its penetration depth and therefore its energy loss at a particular buried layer within the multilayer stack depend on the initial beam energy...
April 24, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28436162/the-path-forward-2015-international-children-s-tumor-foundation-conference-on-neurofibromatosis-type-1-type-2-and-schwannomatosis
#19
Jaishri O Blakeley, Annette Bakker, Anne Barker, Wade Clapp, Rosalie Ferner, Michael J Fisher, Marco Giovannini, David H Gutmann, Matthias A Karajannis, Joseph L Kissil, Eric Legius, Alison C Lloyd, Roger J Packer, Vijaya Ramesh, Vincent M Riccardi, David A Stevenson, Nicole J Ullrich, Meena Upadhyaya, Anat Stemmer-Rachamimov
The Annual Children's Tumor Foundation International Neurofibromatosis Meeting is the premier venue for connecting discovery, translational and clinical scientists who are focused on neurofibromatosis types 1 and 2 (NF1 and NF2) and schwannomatosis (SWN). The meeting also features rare tumors such as glioma, meningioma, sarcoma, and neuroblastoma that occur both within these syndromes and spontaneously; associated with somatic mutations in NF1, NF2, and SWN. The meeting addresses both state of the field for current clinical care as well as emerging preclinical models fueling discovery of new therapeutic targets and discovery science initiatives investigating mechanisms of tumorigenesis...
April 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28436160/compound-heterozygous-mutations-in-col1a1-associated-with-an-atypical-form-of-type-i-osteogenesis-imperfecta
#20
Amanda M Ackermann, Michael A Levine
Heterozygous mutations in the genes encoding the proα1(I) or proα2(I) chains of type I procollagen (COL1A1 and COL1A2, respectively) account for most cases of osteogenesis imperfecta (OI), a disorder characterized by reduced bone strength and increased fracture risk. COL1A1 mutations can also cause rare cases of Ehlers-Danlos syndrome (EDS), a disorder that primarily affects connective tissue and often includes reduced bone mass. Here we present a kindred of three young siblings ages 1-4 years old whose mother has a history of mild type I OI...
April 24, 2017: American Journal of Medical Genetics. Part A
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