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https://www.readbyqxmd.com/read/28102813/intramedullary-amputation-neuroma-a-case-report-and-review-of-the-literature
#1
Laura Stone McGuire, Mandana Behbahini, Sumit Das, David Loeffler, Peter Burger, Herbert Engelhard, Tibor Valyi-Nagy, Ankit Mehta
BACKGROUND AND IMPORTANCE: Amputation neuromas consist of non-neoplastic collections of myelinated axons and Schwann cells and typically arise in injured peripheral nerves. Rarely, however, neuromas occur within the spinal cord. Intramedullary amputation neuromas have been described both with and without a history of trauma within the peripheral nervous system. We report a rare case of an isolated intramedullary spinal cord amputation neuroma. CLINICAL PRESENTATION: This 43-year-old man presented with progressive and severe gait deterioration for ~ 7 years...
January 19, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28102797/why-undertake-a-pilot-in-a-qualitative-phd-study-lessons-learned-to-promote-success
#2
Jane Wray, Uduak Archibong, Sean Walton
Background Pilot studies can play an important role in qualitative studies. Methodological and practical issues can be shaped and refined by undertaking pilots. Personal development and researchers' competence are enhanced and lessons learned can inform the development and quality of the main study. However, pilot studies are rarely published, despite their potential to improve knowledge and understanding of the research. Aim To present the main lessons learned from undertaking a pilot in a qualitative PhD study...
January 23, 2017: Nurse Researcher
https://www.readbyqxmd.com/read/28102623/ischemic-stroke-in-kawasaki-disease
#3
Wasana Prangwatanagul, Alisa Limsuwan
Pediatric stroke is considered to be rare. Stroke resulting from cerebral vasculitis is also uncommon in young children. With the increasing prevalence of Kawasaki disease (KD) diagnosis, this acquired vasculitis has been reported with various clinical presentations including neurological symptoms. Herein we describe the case of a KD patient presenting with stroke. A 15-month-old boy was referred due to stroke that occurred on the fifth day of febrile illness. He was initially admitted to another hospital due to fever and diarrhea...
January 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28102337/deep-brain-stimulation-for-myoclonus-dystonia-syndrome-with-double-mutations-in-dyt1-and-dyt11
#4
Jia-Wei Wang, Ji-Ping Li, Yun-Peng Wang, Xiao-Hua Zhang, Yu-Qing Zhang
Myoclonus-dystonia syndrome (MDS) is a rare autosomal dominant inherited disorder characterized by the presentation of both myoclonic jerks and dystonia. Evidence is emerging that deep brain stimulation (DBS) may be a promising treatment for MDS. However, there are no studies reporting the effects of DBS on MDS with double mutations in DYT1 and DYT11. Two refractory MDS patients with double mutations were treated between 2011 and 2015 in our center. Genetic testing for DYT1 and DYT11 was performed through polymerase chain reaction amplification and direct sequencing of the specific exons of genes...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28102171/lumbar-disc-herniation-causing-cauda-equina-syndrome-in-a-paediatric-patient-a-case-report
#5
Mohamad Irshad, Khurshid Ahmad, Hilal Ahmad Malla
Lumbar disc disease occurs mainly in the adult population. A disc prolapse in the paediatric population is very rare. Cauda equine syndrome resulting from compression of the cauda equina is a rare syndrome and is one of the few spinal surgical emergencies. Here we present a 13-year-old boy with pain in the lumbar region radiating bilaterally to the lower limbs, with asymmetrical weakness of lower the limbs, perianal hypoaesthesia and urinary retention. MRI of lumbar spine confirmed disc protrusion at the L3-L4 level with severe spinal canal stenosis...
August 30, 2016: Ortopedia, Traumatologia, Rehabilitacja
https://www.readbyqxmd.com/read/28102169/hip-joint-arthroplasty-in-pubic-symphysis-separation-in-the-course-of-congenital-bladder-exstrophy-study-of-two-cases
#6
Marek Drobniewski, Andrzej Borowski, Magdalena Krasmska, Marcin Sibmski, Marek Synder
Congenital bladder exstrophy is a severe congenital malformation identified in one out of 30,000-50,000 live newborns and seen more often in girls. Some patients develop osteoarthritis of the hip joints which requires total hip arthroplasty. Reports of such cases are very rare in the world literature, which prompted us to present two cases treated at our Department and analyse their early outcomes. Our experience so far has been rather modest but the results encourage considering total hip arthroplasty in the treatment of hip osteoarthritis in future patients with pubic symphysis separation in the course of congenital bladder exstrophy...
August 30, 2016: Ortopedia, Traumatologia, Rehabilitacja
https://www.readbyqxmd.com/read/28102168/brachial-plexus-root-avulsion-injury-with-occipital-condyle-fractures-case-study
#7
Alicja Baranowska, Joanna Baranowska, Agata Pydych, Paweł Baranowski
Avulsion injuries of the brachial plexus with occipital condyle fractures are very rare and usually result from motor vehicle accidents. This paper presents an analysis of the case of a 24-year-old male patient who sustained both these injuries in a car accident. Computed tomography revealed a fracture of the right occipital condyle and a magnetic resonance scan showed spinal nerve disruption at the C3-C7 level on the left. The patient underwent conservative treatment.
August 30, 2016: Ortopedia, Traumatologia, Rehabilitacja
https://www.readbyqxmd.com/read/28101828/current-trends-in-the-diagnosis-and-management-of-syndesmotic-injury
#8
REVIEW
Matthew L Vopat, Bryan G Vopat, Bart Lubberts, Christopher W DiGiovanni
Ideal management of the various presentations of syndesmotic injury remains controversial to this day. High quality evidentiary science on this topic is rare, and numerous existing studies continue to contradict one another. The primary reasons for these discrepancies are that previous studies have failed to (1) properly distinguish between isolated (non-fractured) and non-isolated injuries, (2) accurately define stable from unstable injuries, and (3) sufficiently differentiate between acute and chronic injuries...
January 18, 2017: Current Reviews in Musculoskeletal Medicine
https://www.readbyqxmd.com/read/28101802/cold-pcr-technologies-in-the-area-of-personalized-medicine-methodology-and-applications
#9
REVIEW
Florence Mauger, Alexandre How-Kit, Jörg Tost
Somatic mutations bear great promise for use as biomarkers for personalized medicine, but are often present only in low abundance in biological material and are therefore difficult to detect. Many assays for mutation analysis in cancer-related genes (hotspots) have been developed to improve diagnosis, prognosis, prediction of drug resistance, and monitoring of the response to treatment. Two major approaches have been developed: mutation-specific amplification methods and methods that enrich and detect mutations without prior knowledge on the exact location and identity of the mutation...
January 18, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28101662/strategies-to-prevent-cast-formation-in-patients-with-plastic-bronchitis-undergoing-heart-transplantation
#10
John J Parent, Robert K Darragh, Jeffrey G Gossett, Thomas D Ryan, Chet R Villa, Angela Lorts, John L Jefferies, Jeffrey A Towbin, Clifford Chin
Plastic bronchitis, a rare complication after Fontan palliation, carries a high morbidity and mortality risk. Heart transplantation is an effective treatment option, but casts may occur in the early post-operative period. We present a case series detailing peri-operative management strategies to minimize morbidity and mortality related to plastic bronchitis in patients undergoing heart transplantation. Patient 1 received no treatment pre-, intra-, or post-transplant for prevention of bronchial casts and developed severe respiratory acidosis 18 h following transplant...
January 19, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28101629/treatment-of-ribbing-disease-with-5-year-follow-up-and-literature-review
#11
L L Zhang, W M Jiang, H L Yang, Z-P Luo
Ribbing disease, or multiple diaphyseal sclerosis, is a rare diaphyseal sclerosis of unknown etiology. Patients with this pathology usually present with asymmetric pain limited to the lower extremities. Though all efforts are made to relieve the progressive pain associated with Ribbing disease, no medical or surgical treatments have been established yet. In this case report, we followed up a Ribbing case with sclerotic bone fenestration for 5 years. The radiological changes and the clinical effects are described, and the different Ribbing treatments are then briefly reviewed...
January 18, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28101623/-102-patients-with-suspected-myocarditis-clinical-presentation-diagnostics-therapy-and-prognosis
#12
S Streuber, F Noack, D Stoevesandt, A Schlitt
INTRODUCTION: Myocarditis is a disease which is difficult to diagnose and which includes a risk of the development of dilated cardiomyopathy and sudden cardiac death. METHODS AND PATIENTS: In this study 102 patients were included from the time period 2003-2013 after diagnosis or suspected diagnosis of myocarditis in the department of internal medicine at the University Hospital Halle (Saale). RESULTS: Of the study participants 77.5% were male and the average age was 35...
January 18, 2017: Herz
https://www.readbyqxmd.com/read/28101593/diffuse-phalangeal-signal-abnormality-on-magnetic-resonance-imaging-phalangeal-microgeodic-disease
#13
Rupa Radhakrishnan, Kathleen H Emery, Arnold C Merrow
BACKGROUND: Phalangeal microgeodic disease is a rare and benign self-limited condition involving the phalanges, often in the setting of cold exposure, with characteristic MR imaging abnormalities. Radiographic case descriptions are predominantly from Asia and Europe, with only seven cases using MR to characterize phalangeal microgeodic disease. OBJECTIVE: In this study we describe the MR imaging appearance of unusual and striking phalangeal signal abnormality compatible with phalangeal microgeodic disease at our institution in North America...
January 18, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28101501/classical-presentation-of-acute-pyelonephritis-in-a-case-of-brucellosis
#14
Wadha Alfouzan, Sara Al-Sahali, Hawra'a Sultan, Rita Dhar
Although Brucella species is known to affect almost all organs in humans, renal involvement presenting as acute pyelonephritis remains a rare entity in brucellosis. We report the case of a female patient who presented with symptoms of fever with chills, right loin pain and dysuria in the emergency room. Blood cultures drawn at the time of admission grew Brucella spp., but no organisms were isolated from urine culture although urinalysis data was indicative of urinary tract infection. Empiric therapy with piperacillin/tazobactam plus gentamicin relieved her symptoms...
May 2016: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/28101484/cadasil-initially-presented-with-a-seizure
#15
Jung-Hwan Oh, Bong Su Kang, Jay Chol Choi
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease of the cerebral small blood vessels characterized by recurrent ischemic strokes, migraine, and progressive cognitive impairment. In patients with CADASIL, in whom subcortical white matter structures are typically involved, epileptic seizures have been rarely reported as an initial clinical symptom. We describe a patient genetically confirmed as having CADASIL who initially presented with a seizure...
December 2016: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/28101463/development-of-a-novel-human-single-chain-antibody-against-egfrviii-antigen-by-phage-display-technology
#16
Leila Rahbarnia, Safar Farajnia, Hossein Babaei, Jafar Majidi, Bahman Akbari, Shiva Ahdi Khosroshahi
Purpose: EGFRvIII as the most common mutant variant of the epidermal growth factor receptor is resulting from deletion of exons 2-7 in the coding sequence and junction of exons 1 and 8 through a novel glycine residue. EGFRvIII is highly expressed in glioblastoma, carcinoma of the breast, ovary, and lung but not in normal cells. The aim of the present study was identification of a novel single chain antibody against EGFRvIII as a promising target for cancer therapy. Methods: In this study, a synthetic peptide corresponding to EGFRvIII protein was used for screening a naive human scFv phage library...
December 2016: Advanced Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/28101432/atypical-hemolytic-uremic-syndrome-in-first-trimester-pregnancy-successfully-treated-with-eculizumab
#17
Gabriela Andries, Michael Karass, Srikanth Yandrapalli, Katherine Linder, Delong Liu, John Nelson, Rahul Pawar, Savneek Chugh
BACKGROUND: Atypical hemolytic uremic syndrome is a rare disorder which is known to cause acute thrombotic microangiopathy during pregnancy with poor maternal and fetal outcomes. Atypical hemolytic uremic syndrome is caused mostly by dysregulation of alternative complement pathway secondary to genetic mutations. Most of the cases reported have been in the post-partum period. We report a rare case of a patient who presents with thrombotic microangiopathy in the first trimester of her eleventh pregnancy and was successfully treated with eculizumab...
2017: Experimental Hematology & Oncology
https://www.readbyqxmd.com/read/28101370/recurrent-ovarian-sertoli-leydig-cell-tumor-in-a-child-with-peutz-jeghers-syndrome
#18
Edward J Bellfield, Ramin Alemzadeh
We present a female child with Peutz-Jeghers syndrome (PJS) with a recurrent ovarian Sertoli-Leydig cell tumor (SLCT). SLCTs are relatively rare sex cord neoplasms that can occur in PJS. The patient was an African-American female who first presented at the age of 3 years with precocious puberty, and then at the age of 17 years with abdominal pain and irregular menses. In each case, she had resection of the mass, which included oophorectomy. To our knowledge, this is the first reported case in a child with PJS to have a recurrent ovarian SLCT...
August 2016: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28101361/bronchoscopic-resection-of-bronchial-angiolipoma-a-rare-case-report
#19
Zhiqiang Wu, Hongli Wan, Min Shi, Ming Li, Zhanpeng Wang, Caixia Yang, Wei Gao, Qingxin Li
Angiolipoma is a rare benign tumor that most commonly occurs in the extremities and trunk. Angiolipomas originating in the bronchial tree are extremely rare. To the best of our knowledge, only one such case, confined to the bronchus intermedius, has been reported to date. The present study describes the case of an asymptomatic 74-year-old man with a yellowish round mass incidentally discovered at the orifice of the right lower bronchus during a routine health check. The tumor originated from the membranous part of the right inferior bronchus...
December 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28101356/a-case-report-of-primary-cutaneous-natural-killer-t-cell-lymphoma
#20
Chen Tian, Yong Yu, Yizhuo Zhang
Primary cutaneous extranodal natural killer/T-cell lymphoma, nasal type (ENKL-NT) is a relatively rare disease associated with aggressive tumor-cell behavior and poor prognosis. Progress in immunohistochemistry has improved the identification of ENKL-NT. The present case study reported on a 64-year-old female patient presenting with several red nodular lesions on the neck developed over four months. Cutaneous biopsy revealed these cells were positive for CD3, CD56, CD5, CD8 and negative for CD2, CD34, CD7, CD20 and Granzyme B...
December 2016: Molecular and Clinical Oncology
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