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https://www.readbyqxmd.com/read/28454450/de-novo-myoepithelial-carcinoma-with-multiple-metastases-arising-from-a-submandibular-salivary-gland-a-case-report
#1
Karina Cecília Panelli Panelli Santos, Hidenobu Matsuzaki, Teruhisa Unetsubo, Shimo Tsuyoshi, Hitoshi Nagatsuka, Jun-Ichi Asaumi
Salivary gland carcinomas are rare tumors, representing ~0.5% of all malignancies. Myoepithelioma is also uncommon, representing ~1% of all salivary gland tumors. Myoepithelial carcinoma (MC) is even rarer, representing 0.2 to 0.6% of all salivary gland tumors. We herein report a case of MC with multiple metastases arising from a submandibular gland in a 71-year-old male patient and present the associated imaging findings. The patient was considered to have a de novo type of myoepithelial carcinoma, which is reportedly associated with higher malignancy than the transformation type of the disease (i...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454448/gnaq-mutation-r183q-as-a-potential-cause-of-familial-sturge-weber-syndrome-a-case-report
#2
Zhengyi Huang, Yuchi Li, Zengxia Zhao, Jun Hu, Xiaoxin Tong, Xuhui Chen, Shuyun Liu, Xiaonan Xu, Yongjun Tao, Tingting Wang, Xin Cheng, Yangyang Dai, Yaoting Gui, Jun Wu
Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder whose etiology remains unclear. To investigate the genetic contribution underlying this disease, the genetic variants of a 4-generation family with a history of SWS was analyzed in the present study. SWS was diagnosed in 3 of the family members (II-1, III-11 and IV-6). Sanger sequencing was performed to identify mutations in G protein subunit αq (GNAQ) and RAS p21 protein activator 1 exons in the 3 patients with SWS and other unaffected family members...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454406/carcinoid-syndrome-from-a-carcinoid-tumor-of-the-pancreas-without-liver-metastases-a-case-report-and-literature-review
#3
Nikolaos Zavras, Demetrios Schizas, Nikolaos Machairas, Vasileia Damaskou, Nikolaos Economopoulos, Anastasios Machairas
A carcinoid tumor of the pancreas (CTP) is a rare pancreatic neoplasm, and usually presents with carcinoid syndrome (CS). CS consists of the classic symptom triad of cutaneous flushing, diarrhea and valvular disease, and occurs in the majority of patients with liver metastases. In the present study, the patient presented with symptoms of CS. A diagnosis of CTP with CS was suspected due to high levels of urine 5-hydroxyindolacetic acid, and this was confirmed by a fine-needle aspiration biopsy. Computed tomography showed extended lymphadenopathy, but no liver metastases...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454379/characterization-of-single-lesion-nonfunctioning-pancreatic-neuroendocrine-carcinoma-via-computed-tomography
#4
Jibo Hu, Qunhui Hu, Hongjie Hu
Nonfunctioning pancreatic neuroendocrine carcinoma (NPNEC) is a poorly differentiated neuroendocrine carcinoma and a rare type of pancreatic cancer. Computed tomography (CT)-based imaging is currently the most effective method for diagnosing and classifying NPNEC. The present study investigated the clinical features and CT manifestations of this disease. The CT manifestations and clinical data of 13 patients with NPNEC, confirmed by surgery or needle biopsy, were retrospectively analyzed. None of the 13 patients exhibited endocrine-related symptoms and a single lesion with a variable position in the pancreatic was observed in all patients...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454372/distinguishing-between-intramural-pregnancy-and-choriocarcinoma-a-case-report
#5
Shan Su, Devendra Chavan, Kun Song, Dennis Chi, Guiyu Zhang, Xiaohui Deng, Li Li, Beihua Kong
Intramural pregnancy is a rare type of ectopic pregnancy with an unclear etiology. It may be associated with uterine wall injury and/or abnormal uterine conditions, such as adenomyosis, in certain cases. In the present report, a case of intramural pregnancy associated with adenomyosis is discussed. The patient was 34 years old and presented with amenorrhea for 40 days. Ultrasonography and magnetic resonance imaging revealed a mixed echogenic mass located within the posterior wall of the uterine fundus with abundant blood flow...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454368/anti-osteoclastic-agent-denosumab-for-a-giant-cell-tumor-of-the-bone-with-concurrent-paget-s-disease-a-case-report
#6
Takaaki Tanaka, John Slavin, Sue-Anne McLachlan, Peter Choong
Paget's disease of the bone may predispose the development of malignant bone tumors such as osteosarcoma. Giant cell tumor (GCT) as a consequence of Paget's disease is rare. Bone GCT is characterized by rapid growth, the destruction of bone, extension to the surrounding soft tissue and abnormal bone turnover caused by an abnormality of the receptor activator of nuclear factor-κB (RANK)-RANK ligand (RANKL) pathway. Denosumab is a RANK-RANKL inhibitor, which is used to treat osteoporosis and bone GCT. In the current study, a 60-year-old male presented with severe pain located between the right thigh and the knee...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454267/characteristics-and-outcome-of-laryngeal-squamous-cell-carcinoma-in-young-adults
#7
Yuval Nachalon, Ohad Cohen, Uri Alkan, Jacob Shvero, Aron Popovtzer
Laryngeal carcinoma rarely occurs in the young adult population. Therefore, the optimal treatment for this age group is unclear, specifically regarding organ preservation treatment. In order to assess the distinct characteristics of laryngeal squamous cell carcinoma (SCC) in young adults and describe the effect of treatment on survival, a retrospective chart review of all patients aged <40 years, who were treated in a tertiary referral center for laryngeal SCC between January 1960 and December 2013, was performed...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454258/locally-advanced-paranasal-sinus-carcinoma-a-study-of-30-patients
#8
Francesco Perri, Raffaele Addeo, Manuel Conson, Adriana Faiella, Giuseppina Della Vittoria Scarpati, Gabriella Torre, Angela Di Biase, Paola Romanelli, Carlo Buonerba, Giuseppe Di Lorenzo, Antonio Daponte, Francesco Caponigro, Salvatore Pisconti, Roberto Pacelli, Vincenzo Ravo, Paolo Muto, Raffaele Solla
Sinonasal carcinomas (SNcs) are rare neoplasms arising from the paranasal sinuses and nasal cavity. Although these tumours have a heterogeneous histology, they are commonly diagnosed as a locally advanced disease and are associated with a poor prognosis. The present retrospective study reviewed 30 patients with locally advanced SNc, who were treated with surgery followed by chemoradiotherapy or radiotherapy, or radiotherapy with or without concomitant chemotherapy between January 1999 and January 2013 at the Department of Radiation Therapy, University of Naples 'Federico II' (Naples, Italy)...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454254/oculomotor-nerve-palsy-as-a-preceding-symptom-of-adult-sporadic-burkitt-lymphoma-a-case-report-and-review-of-the-literature
#9
Yun Liang, Luyin Ding, Xian Li, Weiqin Wang, Xiaohong Zhang
Adult sporadic Burkitt lymphoma (BL) is a rare aggressive neoplasm and represents ~1-5% of all lymphomas diagnosed in adults. The disease exhibits an aggressive clinical manifestation, which frequently involves the central nervous system (CNS) in the early stages, and is usually accompanied by abnormalities in cerebrospinal fluid (CSF) examinations and/or neuroradiography. The current study describes the rare case of a 29-year-old man who presented with oculomotor nerve palsy without palpated masses, B symptoms, peripheral blood anomaly and abnormalities of the nervous system...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454252/multifactorial-neutropenia-in-a-patient-with-acute-promyelocytic-leukemia-and-associated-large-granular-lymphocyte-expansion-a-case-report
#10
Gianluigi Reda, Bruno Fattizzo, Ramona Cassin, Elena Flospergher, Nicola Orofino, Umberto Gianelli, Wilma Barcellini, Agostino Cortelezzi
Neutropenia in the setting of acute hematological malignancies may impact disease prognosis, thus affecting therapy dose intensity. This is often due to chemotherapy-induced aplasia as well as to the disease itself. However, chronic neutropenia deserves further investigation, as the management of reversible concomitant causes may avoid treatment delay. The present study describes a case of an acute promyelocytic leukemia patient with chronic severe neutropenia of multifactorial origin, including acute leukemia itself, chemotherapy, autoimmune activation with anti-platelets and anti-neutrophil antibodies positivity, and the rare association of large granular lymphocyte (LGL) expansion...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454199/-genetic-diagnostics-for-cardiomyopathies
#11
Frauke Czepluch, Bernd Wollnik, Gerd Hasenfuß
Cardiomyopathies often have a genetic etiology. New genetic diagnostic strategies based on next generation sequencing (NGS)-approaches will continuously increase our knowledge about the genetic basis of cardiomyopathies within the following years. Diagnostics and therapy of rare, genetically-induced cardiac diseases increasingly require special cardiac and genetic knowledge. Interestingly, mutations in the same gene or even identical gene mutations can be associated with different cardiomyopathy phenotypes and can exhibit incomplete penetrance or variable expressivity...
May 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28453928/the-clinical-severity-of-hemoglobin-s-black-a-%C3%AE-%C3%AE-%C3%AE-0-thalassemia
#12
Maria I Cancio, Banu Aygun, David H K Chui, Jennifer A Rothman, J Paul Scott, Jeremie H Estepp, Jane S Hankins
Hemoglobin S/Black ((A) γδβ)(0) -thalassemia is a rare sickle cell disease (SCD) variant. On the basis of limited descriptions in the literature, the disease is reported as a mild microcytic anemia with an uncomplicated course. We report the clinical and laboratory data of nine patients whose diagnoses were confirmed by DNA-based techniques. Despite having mild anemia and high fetal hemoglobin level postinfancy, these patients developed many of the classic complications of SCD, including vaso-occlusive crisis, acute chest syndrome, avascular necrosis, and cholelithiasis...
April 28, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28453816/the-incidence-predictive-factors-and-prognosis-of-acute-pulmonary-complications-after-transcatheter-aortic-valve-implantation
#13
Tetsuro Shimura, Masanori Yamamoto, Ai Kagase, Atsuko Kodama, Seiji Kano, Yutaka Koyama, Norio Tada, Kensuke Takagi, Motoharu Araki, Futoshi Yamanaka, Shinichi Shirai, Yusuke Watanabe, Kentaro Hayashida
OBJECTIVES: Although acute pulmonary complications (APCs), such as the exacerbation of pulmonary disease (PD) or a newly developed pulmonary event, are thought to be catastrophic after invasive therapy, little is known about the occurrence of APCs after transcatheter aortic valve implantation (TAVI). This study aims to clarify the incidence, predictive factors and impact of APCs on prognosis after TAVI. METHODS: We identified 749 patients who underwent TAVI, using data from the Optimized CathEter vAlvular iNtervention (OCEAN-TAVI) Japanese multicentre registry...
April 26, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28453664/glycogen-synthesis-in-glycogenin-1-deficient-patients-a-role-for-glycogenin-2-in-muscle
#14
Thomas O Krag, Cristina Ruiz Ruiz, John Vissing
Context: Glycogen storage disease type XV (GSD XV) is a rare disease caused by mutations in the GYG1 gene that codes for the core molecule of muscle glycogen, glycogenin 1. Nonetheless, glycogen is present in muscles of glycogenin 1 deficient patients, suggesting an alternative for glycogen build-up. A likely candidate is glycogenin 2, an isoform expressed in liver and heart, but not in healthy skeletal muscle. Objective: We wanted to investigate the formation of glycogen and changes in glycogen metabolism in patients with GSD XV...
April 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28453593/-benign-intraperitoneal-metastatic-leiomyomatosis-a-case-report
#15
Paz García, Juan Ignacio Errázuriz, Carlos Fernández, Eugenio Arteaga
Benign intraperitoneal metastatic leiomyomatosis is a rare benign disease that is observed when a leiomyoma is present in the peritoneal surface. Women who have undergone hysterectomy for leiomyomas are most commonly affected. Patients are usually asymptomatic at presentation, being frequently an incidental finding in imaging studies. Ultrasound and CT play an important role in the diagnosis. The lesions are histologically identical to their uterine counterparts. There are different theories about the pathogenesis of the disease, including peritoneal seeding after laparoscopic hysterectomy...
February 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/28453437/umbilical-cord-as-human-cell-source-for-mitral-valve-tissue-engineering-venous-vs-arterial-cells
#16
Axel Malischewski, Ricardo Moreira, Luis Hurtado, Valentine Gesché, Thomas Schmitz-Rode, Stefan Jockenhoevel, Petra Mela
Around 2% of the population in developed nations are affected by mitral valve disease and available valvular replacements are not designed for the atrioventricular position. Recently our group developed the first tissue-engineered heart valve (TEHV) specifically designed for the mitral position - the TexMi valve. The valve recapitulates the main components of the native valve, i.e. annulus, asymmetric leaflets and the crucial chordae tendineae. In the present study, we evaluated the human umbilical cord as a clinically applicable cell source for the TexMi valve...
April 28, 2017: Biomedizinische Technik. Biomedical Engineering
https://www.readbyqxmd.com/read/28453344/pediatric-hereditary-angioedema-as-a-cause-of-acute-compartment-syndrome-of-the-hand-and-forearm-a-case-report
#17
Chelsea Venditto, Zachary Jager, John LoGiudice, Hani Matloub
BACKGROUND: Compartment syndrome of the upper extremity is a surgical emergency that, when left untreated, can have dire consequences. Its causes are numerous, one of which is the uncommon entity hereditary angioedema, an autosomal dominant disease resulting in edema in a variety of potential locations, including the extremities. This is only the second time hereditary angioedema has been mentioned in the literature as a cause of compartment syndrome. METHODS: We present a case of hereditary angioedema leading to hand and forearm compartment syndrome in a 13-year-old pediatric patient...
May 2017: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/28453342/flexor-tendon-rupture-due-to-previously-undiagnosed-kienb%C3%A3-ck-disease-a-case-report
#18
Kenrick Turner, Nicholas N Sheppard, Samuel E Norton
BACKGROUND: Spontaneous flexor tendon rupture is rare and most common in the little finger. The pathogenesis of spontaneous tendon ruptures is unclear but may occur through attrition or mechanical abrasion over a bony prominence. Kienböck disease is avascular necrosis of the lunate, with an unknown etiology. METHODS: We present a case of spontaneous rupture of flexor digitorum profundus due to Kienböck disease, which we believe is the first recorded case of flexor tendon rupture attributable to osteonecrosis of the lunate...
May 2017: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/28449571/tardive-dyskinesia-associated-with-bupropion
#19
Taha Can Tuman, Uğur Çakır, Osman Yıldırım, Mehmet Akif Camkurt
Present report describes a 46 year old male patient with a diagnosis of major depression who developed tardive dyskinesia during bupropion therapy. Our patient had no history of neuroleptic use and his laboratory and neurologic examinations were normal. He had no family history of neurologic diseases. Although bupropion induced dyskinesia has been previously reported in the literature, it is rare and our case is the first case regarding tardive dyskinesia.
May 31, 2017: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28449507/primary-mediastinal-myelolipoma-a-case-report-and-literature-review
#20
Qingtong Shi, Shu Pan, Yang Bao, Huangxin Fan, Yali Diao
Myelolipoma is a kind of rare benign tumour composed of mature adipocytes and hemopoietic elements, and is most often found in the adrenal glands. Primary mediastinal myelolipoma (PMM) more rarely happens and has no definite symptoms, and mediastinal masses are usually found in chest examination. The patients normally receive a surgical resection and have a favorable prognosis after postoperative pathological diagnosis. Here, we present the case of PMM, which was resected via video-assisted thoracic surgery (VATS), and investigate recent correlative literatures to summarize its etiology, histopathology, differential diagnosis and therapeutic method...
March 2017: Journal of Thoracic Disease
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