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"Rare diseases"

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https://www.readbyqxmd.com/read/29031177/giant-gastric-lipoma-presenting-as-gi-bleed-enucleation-or-resection
#1
Salah Termos, Ossama Reslan, Omar Alqabandi, Abdullah AlDuwaisan, Saud Al-Subaie, Khalifa Alyatama, Mohammad Alali, Ahmad AlSaleh
INTRODUCTION: Gastric lipomas are unusual benign lesions and account for less than 1% of all tumours of the stomach and 5% of all gastrointestinal lipomas (Thompson et al.2003; Fernandez et al. 1983 [1,2]). Although predominantly asymptomatic and indolent; they may present with gastric outlet obstruction and upper gastrointestinal (GI) bleeding owing to size and ulceration. Only a few cases have been reported, presenting large in size with massive GI bleeding (Alcalde Escribano et al...
October 6, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29026737/eosinophilic-gastrointestinal-disorder-presenting-as-intractable-vomiting-and-ascites-in-a-young-girl
#2
Ji Yoon Kwon, Ji Sun Huh, Bo Kyung Je, Kwang Dae Hong, Jee Hyun Lee
Eosinophilic gastrointestinal disorder (EGID) is a rare disease in children that affects the bowel wall, with eosinophilic infiltration in the absence of any other causes for eosinophilia. The etiology remains unknown, but allergies and immunological imbalance are suspected triggers. We encountered a case of serosal EGID presenting as intractable vomiting and ascites in a 9-year-old girl, after influenza virus infection. Peripheral eosinophilia was not present. The diagnosis was confirmed by biopsy of the bowel wall through laparotomy and endoscopy, and controlled by 2 courses of steroid therapy due to recurring symptoms...
September 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/29026364/recurrent-pneumothoraces-in-a-patient-with-pulmonary-benign-metastasizing-leiomyoma
#3
Miranda Hann, Rinu Manacheril, Jerry St Pierre, Rajiv Gala
BACKGROUND: Pulmonary benign metastasizing leiomyoma (BML) is a rare disease with a malignant characteristic of spread from the uterus. Most cases are asymptomatic, and only 1% are associated with pneumothorax. CASE REPORT: We present the case of a 42-year-old female with recurrent pneumothoraces leading to an incidental finding of diffuse bilateral pulmonary nodules. The diagnosis of BML was based on the patient's history of uterine leiomyomata and confirmed by a biopsy showing benign smooth muscle staining for desmin and vimentin...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/29026268/characteristic-clinical-features-of-adipsic-hypernatremia-patients-with-subfornical-organ-targeting-antibody
#4
Akari Nakamura-Utsunomiya, Takeshi Y Hiyama, Satoshi Okada, Masaharu Noda, Masao Kobayashi
Adipsic hypernatremia is a rare disease presenting as persistent hypernatremia with disturbance of thirst regulation and hypothalamic dysfunction. As a result of congenital disease, tumors, or inflammation, most cases are accompanied by structural abnormalities in the hypothalamic-pituitary area. While cases with no hypothalamic-pituitary structural lesion have been reported, their etiology has not been elucidated. Recently, we reported three patients with adipsic hypernatremia whose serum-derived immunoglobulin (Ig) specifically reacted with mouse subfornical organ (SFO) tissue...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29025773/erdheim-chester-disease-atypical-presentation-of-a-rare-disease
#5
Cristian Ricardo Calandra, Ariel Bustos, Florencia Falcon, Naomi Arakaki
We report the clinical case of an adult patient referred to our hospital because of trismus due to a tumour in the right infratemporal and pterygomaxillary fossa. He referred hyporexia, weight loss and right trigeminal neuralgia. On physical examination, he had trismus and diplopia. On neuroimaging, the tumour invaded the central nervous system affecting the right temporal lobe and orbit, and the sellar region. Tumour biopsy revealed foamy histiocytes and isolated giant multinuclear cells immunoreactive to CD68 and negative to CD1a and S100...
October 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29023302/complete-resolution-of-lymphoid-interstitial-pneumonia-in-a-patient-with-juvenile-myelomonocytic-leukemia-treated-with-allogeneic-bone-marrow-transplant-killing-2-birds-with-1-stone
#6
Anant Vatsayan, Ravi Talati, Kristen Nagle, Linda Cabral, Sloane Cammock, Amy Dimarino, Rachel Egler, Shahrazad Saab, Jignesh Dalal
Lymphoid interstitial pneumonia (LIP) is a rare disease characterized by benign reactive polyclonal proliferation of bronchus-associated lymphoid tissue after exposure to inhaled or circulating antigen(s), leading to a disease symptomatology similar to idiopathic interstitial pneumonia. Its association with diseases that are caused due to immune dysregulation (autoimmune diseases, congenital/acquired immunodeficiency, and allogeneic bone marrow transplant) and response to immunomodulatory/suppressive medications suggests an immunologic pathophysiology...
October 11, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29023238/severe-phenotype-of-keratitis-ichthyosis-deafness-syndrome-with-presumed-ocular-surface-squamous-neoplasia
#7
Ana Silvia Serrano-Ahumada, Vianney Cortes-González, Luz María González-Huerta, Sergio Cuevas, Luis Aguilar-Lozano, Cristina Villanueva-Mendoza
PURPOSE: The aim of this study was to describe a case of severe keratitis-ichthyosis-deafness (KID) syndrome with ocular surface squamous neoplasia. METHODS: The affected patient underwent complete ocular and systemic examinations. The molecular studies included polymerase chain reaction amplification and automated DNA sequencing of the complete gap junction beta-2 (GJB2) gene coding sequence. RESULTS: A 30-year-old man presented with generalized erythro-hyperkeratosis and deafness and complaints of decreased visual acuity, tearing, and photophobia...
October 10, 2017: Cornea
https://www.readbyqxmd.com/read/29022960/idiopathic-intracranial-hypertension-in-a-pubertal-paediatric-indian-patient
#8
Anand Aggarwal, Prempal Kaur, Kanika Chhabra, Karamjit Singh, Piyush Goyal
BACKGROUND: Idiopathic Intracranial Hypertension (IIH) is characterised by raised intracranial pressure (ICP) with normal cerebrospinal fluid (CSF) composition and absence of hydrocephalus or space occupying lesions. IIH is a rare disease in children. It can lead to visual impairment but prompt diagnosis and treatment in most of the cases will prevent potentially permanent visual loss. OBJECTIVE: To report a rare case of Idiopathic Intracranial Hypertension in a pubertal child, clinical features, and findings of Magnetic Resonance Imaging (MRI) and visual field of this case...
January 2017: Nepalese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29022330/bladder-stone-management-an-update
#9
Antonio Cicione, Cosimo DE Nunzio, Stefano Manno, Rocco Damiano, Alessandro Posti, Estevao Lima, Andrea Tubaro, Filippo Balloni
INTRODUCTION: Bladder stone (BS) is a rare disease curable with several options. Herein, we reviewed the specific literature in order to update the current BS management. EVIDENCE ACQUISITION: A comprehensive systematic MEDLINE search was performed for English language reports published before April 2017 using the BS related terms, i.e. bladder-vesical calculi, lithotripsy. Then manuscripts references were screened to identify unfounded studies. Studies regarding BS in children were excluded...
October 11, 2017: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
https://www.readbyqxmd.com/read/29022232/a-case-of-fatal-perimyocarditis-due-to-a-rare-disease
#10
Stefanie Plenzig, Sara Heinbuch, Hannelore Held, Marcel A Verhoff, Constantin Lux
Although myocarditis is caused by viral infections in about 50% of cases in European countries, various other causative agents are known. We report the case of a 51-year-old man who died several months after being diagnosed with asthma by his general practitioner. This diagnosis had been confirmed by a pulmonologist approximately 6 weeks before the man's death. To rule out the possibility of medical malpractice the prosecuting authority ordered a forensic autopsy. At autopsy macroscopic indicators for perimyocarditis and pneumonia were found...
October 11, 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/29021953/bilateral-lung-disease-extensive-and-diffuse-diagnosis-of-pulmonary-alveolar-proteinosis-by-bronchoscopic-cryobiopsy
#11
Sebastián Gando, Roberto Duré, Damián Violi, Bibiana Vazquez, Gonzalo Labarca, Sebastián Fernandez-Bussy
Pulmonary alveolar proteinosis (PAP) is a rare disease characterized by the intra-alveolar accumulation of a proteinaceous phospholipid-laden material called surfactant. Clinically, this disease should be suspected with respiratory failure in association with a crazy paving pattern on high-resolution chest computed tomography. We report a 24-year-old gentleman who was referred to us for a history of respiratory failure, treatment with invasive ventilation and tracheostomy. His blood exams and biochemistry were normal...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/29021650/ureteral-endometriosis-a-systematic-literature-review
#12
REVIEW
Viktoria-Varvara Palla, Georgios Karaolanis, Ioannis Katafigiotis, Ioannis Anastasiou
INTRODUCTION: Ureteral endometriosis is a rare disease affecting women of childbearing age which presents with nonspecific symptoms and it may result in severe morbidity. The aim of this study was to review evidence about incidence, pathogenesis, clinical presentation, diagnosis, and management of ureteral endometriosis. MATERIALS AND METHODS: PubMed Central database was searched to identify studies reporting cases of ureteral endometriosis. "Ureter" or "Ureteral" and "Endometriosis" were used as key words...
October 2017: Indian Journal of Urology: IJU: Journal of the Urological Society of India
https://www.readbyqxmd.com/read/29021363/novel-and-unexpected-functions-of-sglts
#13
REVIEW
Ernest M Wright, Chiara Ghezzi, Donald D F Loo
It has been 30 years since the intestinal sodium glucose cotransporter SGLT1 was cloned, and, in the intervening years, there have been many advances that have influenced physiology and medicine. Among the first was that SGLT1 is the founding member of the human gene family SLC5, containing 11 diverse transporters and a glucose sensor. Equally surprising was that SGLTs are members of a structural family of cotransporters and exchangers in different gene families. This led to the conclusion that these proteins operate by a mechanism where transport involves the opening and closing of external and internal gates...
November 2017: Physiology
https://www.readbyqxmd.com/read/29019447/survival-of-patients-with-cd20-negative-variants-of-large-b-cell-lymphoma-an-analysis-of-the-national-cancer-data-base
#14
Lindor Qunaj, Jorge J Castillo, Adam J Olszewski
Using records from the National Cancer Data Base, we studied overall survival of CD20-negative variants of diffuse large B-cell lymphoma (DLBCL): primary effusion (PEL, N = 228), plasmablastic (PBL, N = 481), ALK-positive large B-cell (ALK + LBLC, N = 15), and human herpesvirus-8-positive DLBCL (HHV8 + DLBCL, N = 77). Three-year survival was 27% for PEL, 40% for PBL, 34% for ALK + LBCL, and 63% for HHV8 + DLBCL. Compared with unspecified DLBCL, and adjusting for clinical characteristics (including the HIV status), survival was significantly worse for PEL (hazard ratio [HR], 1...
October 11, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29019335/leiomyosarcoma-of-penis-an-aggressive-and-exceptionally-rare-entity
#15
Vinita Trivedi, Muneer A, Rita Rani, Richa Chauhan, Usha Singh, Naveen Kuna
Penile leiomyosarcoma is a very rare disease of penile mesenchymal tissue, most of them are of vascular origin and pathologically classified into the superficial and deep type. Because of the small number of cases reported so far, the conclusions about treatment and prognosis are equivocal. Here we report a case of 40-year old patient who presented with leiomyosracoma of penis; despite adequate surgery patient developed local recurrence and distant metastasis indicating aggressive nature of leiomyosarcoma entity of penis...
September 2017: Gulf Journal of Oncology
https://www.readbyqxmd.com/read/29019295/exploring-values-of-health-technology-assessment-agencies-using-reflective-multicriteria-and-rare-disease-case
#16
Mireille M Goetghebeur, Monika Wagner, Dima Samaha, William O'Neil, Danielle Badgley, Hector Castro-Jaramillo, Payam Abrishami, Antonio Sarria-Santamera, Irina Cleemput, Michele Tringali
OBJECTIVES: Tackling ethical dilemmas faced by reimbursement decision makers requires deeper understanding of values on which health technology assessment (HTA) agencies are founded and how trade-offs are made. This was explored in this study including the case of rare disease. METHODS: Representatives from eight HTA explored values on which institutions are founded using a narrative approach and reflective multicriteria (developed from EVIDEM, criteria derived from ethical imperatives of health care)...
October 11, 2017: International Journal of Technology Assessment in Health Care
https://www.readbyqxmd.com/read/29019051/the-link-between-narcolepsy-and-autonomic-cardiovascular-dysfunction-a-translational-perspective
#17
REVIEW
Chiara Berteotti, Alessandro Silvani
Narcolepsy is a rare disease that entails excessive daytime sleepiness, often associated with sudden episodes of muscle weakness known as cataplexy. Narcolepsy with cataplexy (NC) is due to the loss of hypothalamic neurons that release the neuropeptides orexin A and B. Orexin neuron projections prominently target brain structures involved in wake-sleep state switching and the central autonomic network. This review provides an updated summary of the links between NC and autonomic cardiovascular dysfunction from a translational perspective...
October 10, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/29017411/occult-langerhans-cell-histiocytosis-in-clear-cell-renal-cell-carcinoma
#18
Hee Jung Kwon, Phil Hyun Song, Mi Jin Gu
Langerhans cell histiocytosis is a rare disease that is characterized by a localized or systemic proliferation of Langerhans dendritic cells and a wide spectrum of clinical presentations. We experienced an unusual case of occult Langerhans cell histiocytosis associated with clear cell renal cell carcinoma. A 62-year-old man underwent a partial nephrectomy for left renal mass. Histologic examination showed nests of clear cells with surrounding thin-walled vessel that were suggestive of clear cell renal cell carcinoma...
October 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29017220/-bronchitis-plastica-acute-dyspnea-and-branching-airway-casts
#19
P Wischmann, S Keymel, M Kelm, S Krüger
A 65 year old female presented to the emergency department with dyspnea and progressive cough with very viscous elongated secretion plugs. She suffered from multiple cardiac comorbidities and chronic heart failure. The CT scan of the thorax demonstrated extensive pulmonary infiltrates, unspecific mediastinal lymphadenopathy and enlargement of pulmonary lymph vessels. Bronchoscopy was performed and showed extensive occlusive bronchial casts. We diagnosed a case of bronchitis plastica. Therapy with inhalative heparin led to clinical improvement...
October 2017: Pneumologie
https://www.readbyqxmd.com/read/29016851/mutations-causing-acrodysostosis-2-facilitate-activation-of-phosphodiesterase-4d3
#20
Claire Briet, Arrate Pereda, Catherine Le Stunff, Emmanuelle Motte, Juan de Dios Garcia-Diaz, Guiomar Perez de Nanclares, Nicolas Dumaz, Caroline Silve
Type 2 acrodysostosis (ACRDYS2), a rare developmental skeletal dysplasia characterized by short stature, severe brachydactyly and facial dysostosis, is caused by mutations in the phosphodiesterase (PDE) 4D (PDE4D) gene. Several arguments suggest that the mutations should result in inappropriately increased PDE4D activity, however, no direct evidence supporting this hypothesis has been presented, and the functional consequences of the mutations remain unclear. We evaluated the impact of four different PDE4D mutations causing ACRDYS2 located in different functional domains on the activity of PDE4D3 expressed in Chinese hamster ovary cells...
October 15, 2017: Human Molecular Genetics
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