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https://www.readbyqxmd.com/read/28102875/prevalence-of-abnormal-electrocardiograms-in-swiss-elite-athletes-detected-with-modern-screening-criteria
#1
Tilman Perrin, Lukas Daniel Trachsel, Simon Schneiter, Andrea Menafoglio, Silvia Albrecht, Tony Pirrello, Prisca Eser, Laurent Roten, Boris Gojanovic, Matthias Wilhelm
AIMS OF THE STUDY: Sudden cardiac arrest in athletes is a rare but dramatic event. The value of a routine electrocardiogram (ECG) during preparticipation screening (PPS) remains controversial, partly because of the relatively high number of false positive findings. Our study aimed to evaluate the prevalence of abnormal ECGs in consecutive Swiss elite athletes, overall and with regard to different sports classes, using modern screening criteria. METHODS: We analysed the 12-lead resting ECGs of high-level elite athletes (age ≥14 years) recorded at the Swiss Olympic Medical Centre Magglingen between 2013 and 2016 during routine PPS...
January 19, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28102627/brachial-artery-pseudoaneurysm-rare-finding-in-childhood-behcet-s-disease
#2
Beltinge Demircioğlu Kılıc, Mehtap Akbalık Kara, Ayse Aysima Ozcelik, Hasim Ustunsoy, Ayse Balat
No abstract text is available yet for this article.
January 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
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/28102171/lumbar-disc-herniation-causing-cauda-equina-syndrome-in-a-paediatric-patient-a-case-report
#4
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/28101802/cold-pcr-technologies-in-the-area-of-personalized-medicine-methodology-and-applications
#5
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/28101778/eight-novel-mut-loss-of-function-missense-mutations-in-chinese-patients-with-isolated-methylmalonic-academia
#6
Lian-Shu Han, Zhuo Huang, Feng Han, Yu Wang, Zhu-Wen Gong, Xue-Fan Gu
BACKGROUND: Isolated methylmalonic acidemia is a rare autosomal recessive metabolic disorder mostly caused by mutations in the methylmalonyl coenzyme A mutase (MCM) gene (MUT). This study aimed to verify whether missense mutations in MUT in Chinese patients affect the stability and enzymatic activity of MCM. METHODS: Eight Chinese patients were identified with novel mutations. Plasmids carrying the wild-type and mutated MUT cDNA were constructed and transfected into HEK293T cells for functional analyses...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28101629/treatment-of-ribbing-disease-with-5-year-follow-up-and-literature-review
#7
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
#8
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
#9
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/28101556/time-for-food-training-physiatrists-in-nutritional-prescription
#10
Rani Polak, Marie Dacey, Edward M Phillips
INTRODUCTION: Sub-optimal nutrition is a leading factor in all-cause mortality, the preponderance of non-communicable chronic diseases, and various health conditions that are treated by physiatrists, such as stroke and musculoske-letal disorders. Furthermore, patients with chronic pain have a high prevalence of nutritional deficiencies, and malnutrition has been associated with limited rehabilitation outcomes in elderly patients with hospital-associated deconditioning. Thus, physiatrists may find it valuable to include nutrition in their patient services...
January 18, 2017: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28101484/cadasil-initially-presented-with-a-seizure
#11
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/28101356/a-case-report-of-primary-cutaneous-natural-killer-t-cell-lymphoma
#12
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
https://www.readbyqxmd.com/read/28101187/severe-pneumonia-due-to-infection-with-candida-krusei-in-a-case-of-suspected-middle-east-respiratory-syndrome-a-case-report-and-literature-review
#13
Mingming Tan, Junwei Wang, Peiyang Hu, Bin Wang, Wanghua Xu, Jiao Chen
Candida krusei (C. krusei) pneumonia is a rare infection that is frequently associated with a poor outcome. The present study reports an unusual case of C. krusei pneumonia that was initially suspected to be a Middle East respiratory syndrome (MERS) case. A 64-year-old Saudi Arabian male patient was admitted to our hospital with complaints of cough and dyspnea that persisted for 6 days. The patient presented fever (oral temperature, 38.5°C) and slight tachypnea (25 respirations/min). A chest computerized tomography demonstrated unclear lung fields, diffuse pathological changes in the two lungs and multiple lymphadenectasis in the retrocaval and para-aortic arch area...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28101170/extramedullary-hematopoiesis-a-report-of-two-cases
#14
Huan-Zhu Zhang, Ying Li, Xin Liu, Bao-Rong Chen, Guo-Hua Yao, Yu-Na Peng
Extramedullary hematopoiesis (EMH) is defined as hematopoiesis occurring in organs outside of the bone marrow. The present report describes two cases of thalassemic patients with paraspinal medullary hematopoiesis and analyzes the clinical manifestations, imaging, pathology, diagnosis and treatment of EMH. In addition, a supplementary review of previously published cases is provided along with a review of the related literature. Computed tomography (CT) of the first case revealed multiple paraspinal masses, and the largest was 6...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28101049/tuberculous-subretinal-abscess-in-a-non-hiv-patient-with-miliary-tuberculosis
#15
Eugenia Paez Soria, Paula Magnano, Ariel Schlaen, Paula Luvini, Gisela Arevalo Calderon, Mauricio Martinez Cartier, Pablo Chiaradía, Cristóbal Couto
This case report describes the features of a tuberculous subretinal abscess in a non-HIV patient. It includes the characterization of the lesion with spectral-domain optical coherence tomography (SD-OCT) and fundus autofluorescence examination. SD-OCT and autofluorescence imaging showed external retinal involvement during development of the tuberculous subretinal abscess. Patients with tuberculous lesions need a multidisciplinary approach, since the disease may involve any part of the body. In this case in particular, incidental findings at computed tomography scan led to the detection of this rare ocular manifestation of tuberculous disease...
September 2016: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28101043/effects-of-disseminated-mycobacterial-infection-on-age-related-macular-degeneration
#16
Geoffrey Collett, Natalia Lopez, Pedro F Lopez
Our patient, in the 7th decade of life, presented with worsening blurry vision over 3 weeks. The pertinent history included nonexudative age-related macular degeneration, recent pulmonary mycobacterial infection, and autoimmune pancreatitis. The patient had decreased visual acuity in both eyes; the remaining findings of our examination were relatively benign. The diagnosis of bilateral exudative age-related macular degeneration was aided by ocular imaging. Not only were exudative changes confirmed, but one modality suggested an underlying occult choroiditis, which presumably fueled a local inflammatory drive leading to evolution of the disease...
September 2016: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28101036/anti-n-methyl-d-aspartate-receptor-encephalitis-in-hiv-infection
#17
Eunice Patarata, Vera Bernardino, Ana Martins, Rui Pereira, Conceição Loureiro, Maria Francisca Moraes-Fontes
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a rare condition characterized by emotional and behavioral disturbances, dyskinesias, and extrapyramidal signs. It occurs in young women of reproductive age and is classically described as a paraneoplastic phenomenon. We present a 36-year-old, HIV-positive female who was admitted to the hospital in an acute confusional state, with a stiff posture, periods of motor agitation, and myoclonic jerks of the hands. Her mental state progressively deteriorated...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/28101030/mucoepidermoid-carcinoma-of-the-breast-found-during-treatment-of-lymphoma
#18
Minoru Fujino, Daisuke Mori, Michiaki Akashi, Hidetaka Yamamoto, Hitoshi Aibe, Kunishige Matake, Kengo Shirahane
A 71-year-old woman, previously treated for malignant lymphoma, was admitted to our hospital with a tumor in the right breast. The tumor size was 2.0 cm in diameter, and the borderline was unclear. The core needle biopsy material revealed an invasive adenocarcinoma with metaplastic change. Right mastectomy and sentinel lymph node biopsy was performed. Histologically, the tumor was composed of mucus-secreting, epidermoid, and intermediate cells. These findings confirmed the diagnosis as mucoepidermoid carcinoma (MEC) of the breast...
September 2016: Case Reports in Oncology
https://www.readbyqxmd.com/read/28100949/rosai-dorfman-disease-presenting-with-recurrent-unilateral-submandibular-lymph-adenitis-a-case-report
#19
Vipan Kumar, J S Bhandari, Sukirty Awasthi, Mohammad Rashid, Ankita Sharma
Rosai-Dorfman Disease (RDD) is a rare disease of unknown aetiology, initially described as a separate entity in 1969 by Rosai and Dorfman. We describe here a case of RDD presenting with acute, recurrent lymphadenitis and massive lymphadenopathy. The patient's good response to the antibiotics was a false pointer towards infective pathology. The repeated fine needle aspiration cytology was inconclusive or suggested nonspecific reactive hyperplasia. The excision biopsy confirmed the diagnosis of RDD and was supported by immune-histochemistry for S-100 antigen...
December 2016: Indian Journal of Surgery
https://www.readbyqxmd.com/read/28100910/a-novel-sequence-variant-in-sfrp4-causing-pyle-disease
#20
Chelna Galada, Hitesh Shah, Anju Shukla, Katta M Girisha
Pyle disease (PYL) is an extremely rare disorder of irregular development of long bone. Recently, homozygous mutations in secreted frizzled-related protein 4 gene (SFRP4) gene were found to underlie this condition. Sequencing of coding regions of SFRP4 gene from an 11-year-old female with PYL was performed. A novel homozygous nonsense variant, c.183C>G (p.Y61*) was observed. Segregation analysis in the patient revealed a germline mutation, resulting in reduced protein formation. This is the second report from a fourth affected family with a SFRP4 mutation causing PYL disease...
January 19, 2017: Journal of Human Genetics
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