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https://www.readbyqxmd.com/read/27933680/primary-breast-angiosarcoma-a-retrospective-study-of-36-cases-from-a-single-chinese-medical-institute-with-clinicopathologic-and-radiologic-correlations
#1
Lei Wang, I Weng Lao, Lin Yu, Wentao Yang, Jian Wang
The aim of this study was to present our experience with primary breast angiosarcoma (PBA) by describing a large series of cases with an emphasis on clinicopathologic and radiologic correlations. Thirty-six cases of PBA diagnosed at our institution between 2006 and 2014 were retrospectively evaluated. All but one case occurred in women with a median age of 35.5 years. The majority of patients presented with a deeply located painless mass, whereas a minority manifested as diffuse enlargement or swelling of the breast...
December 9, 2016: Breast Journal
https://www.readbyqxmd.com/read/27933652/nonobstructive-diffuse-dilated-bowel-loops-prenatal-diagnosis-fetal-characteristics-and-neonatal-outcomes
#2
Guy Katz, Ben Pode-Shakked, Michal Berkenstadt, Ron Bilik, Sylvie Polak Charcon, Iris Barshack, Reuven Achiron, Yinon Gilboa
OBJECTIVES: The purpose of this study was to describe the characteristics and outcomes of fetuses with a diagnosis of nonobstructive diffuse dilated bowel loops. METHODS: We conducted a retrospective study of all pregnancies with fetal diagnosis of nonobstructive diffuse dilated bowel loops over 14 years in a large tertiary referral center. Fetomaternal and neonatal characteristics and outcomes were assessed. RESULTS: Seven fetuses had sonograms showing diffuse dilated bowel loops; none of them had intestinal obstruction after labor...
December 8, 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/27933557/atypical-presentation-and-treatment-response-in-a-child-with-familial-hypercholesterolemia-having-a-novel-ldlr-mutation
#3
S Varma, A D McIntyre, R A Hegele
Familial hypercholesterolemia (FH) is an autosomal codominantly inherited disease. The severity of clinical presentation depends on the zygosity of the mutations in the LDLR, APOB, or PCSK9 genes. The homozygous form (HoFH) is associated with high mortality rate by third decade of life, while individuals with HeFH begin to suffer from premature cardiovascular disease in fourth or fifth decade of life. Statin drugs have helped to improve the biochemical profile and life expectancy in HeFH, while they are only minimally effective in HoFH...
December 9, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27933465/nano-mechanical-characterization-of-ataxia-telangiectasia-cells-treated-with-dexamethasone
#4
Michele Menotta, Sara Biagiotti, Giulia Bartolini, Bianchi Marzia, Sara Orazi, Aldo Germani, Luciana Chessa, Mauro Magnani
Ataxia telangiectasia is a rare genetic disease and no therapy is currently available. Glucocorticoid analogues have been shown to improve the neurological symptoms of treated patients. In the present study ataxia telangiectasia and wild type cells were used as a cellular model and treated with dexamethasone. The cells were subsequently investigated for membrane and whole cell mechanical properties by atomic force microscopy. In addition, cytoskeleton protein dynamics and nuclear shapes were assayed by fluorescence microscopy, while western blots were used to assess actin and tubulin content...
December 8, 2016: Cell Biochemistry and Biophysics
https://www.readbyqxmd.com/read/27933391/-tapering-and-termination-of-immunosuppressive-treatment-in-spondyloarthritides-including-psoriatic-arthritis
#5
REVIEW
G Scholz, B Möller
BACKGROUND: Immunomodulatory long-term treatment has also become the standard treatment for spondyloarthritides (SpA), including psoriatic arthritis (PsA); however, uncertainty exists about dose reduction or termination of treatment after remission or low disease activity. OBJECTIVE: When is it possible to reduce medication or terminate treatment for SpA? MATERIAL AND METHODS: An extensive non-systematic literature search was performed focusing on practice guidelines, systematic meta-analyses and clinical trials on medicinal long-term treatment and voluntary medication reduction in axial and peripheral SpA, including PsA...
December 8, 2016: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/27933377/radiofrequency-ablation-of-hepatocellular-carcinoma-with-a-nodule-in-nodule-appearance-long-term-follow-up-and-clinical-implications
#6
Tae Wook Kang, Hyunchul Rhim, Kyoung Doo Song, Min Woo Lee, Dong Ik Cha, Sang Yun Ha, Joong Hyun Ahn
PURPOSE: Hepatocellular carcinoma (HCC) with a "nodule-in-nodule" (NIN) appearance has unique histological characteristics as an early HCC. We assessed long-term therapeutic outcomes of radiofrequency ablation (RFA) in HCC patients considering this appearance. MATERIALS AND METHODS: Our Institutional Review Board approved this retrospective study, and the requirement for written informed consent was waived. Between May 2006 and April 2012, a total of 572 patients underwent RFA for single HCC as a first-line treatment...
December 8, 2016: Cardiovascular and Interventional Radiology
https://www.readbyqxmd.com/read/27933320/genetics-and-pathogenesis-of-idiopathic-scoliosis
#7
REVIEW
A Grauers, E Einarsdottir, P Gerdhem
Idiopathic scoliosis (IS), the most common spinal deformity, affects otherwise healthy children and adolescents during growth. The aetiology is still unknown, although genetic factors are believed to be important. The present review corroborates the understanding of IS as a complex disease with a polygenic background. Presumably IS can be due to a spectrum of genetic risk variants, ranging from very rare or even private to very common. The most promising candidate genes are highlighted.
2016: Scoliosis and Spinal Disorders
https://www.readbyqxmd.com/read/27933253/primary-intracerebral-osteosarcoma-a-rare-case-report-and-review
#8
Song-Ping Chen, Jin-Long Tang, Xiu-Liang Zhu
BACKGROUND: Primary intracranial osteosarcoma is a extremely rare disease entity. We describe a case of primary intracerebral osteosarcoma in an adult brain. CASE DESCRIPTION: A patient who presented with a 1-week history of headaches, and MRI examination was performed. The immunohistochemical diagnosis confirmed primary intracerebral osteosarcoma. The patient was treated with a surgical resection of the tumor. CONCLUSION: Primary osteosarcomas occurring in the brain are extremely rare...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27933173/a-rare-case-of-gestational-thyrotoxicosis-as-a-cause-of-acute-myocardial-infarction
#9
Varalaxmi Bhavani Nannaka, Dmitry Lvovsky
: Angina pectoris in pregnancy is unusual and Prinzmetal's angina is much rarer. It accounts for 2% of all cases of angina. It is caused by vasospasm, but the mechanism of spasm is unknown but has been linked with hyperthyroidism in some studies. Patients with thyrotoxicosis-induced acute myocardial infarction are unusual and almost all reported cases have been associated with Graves' disease. Human chorionic gonadotropin hormone-induced hyperthyroidism occurs in about 1.4% of pregnant women, mostly when hCG levels are above 70-80 000 IU/L...
2016: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/27933172/brown-tumor-of-the-jaw-after-pregnancy-and-lactation-in-a-men1-patient
#10
Anna Casteràs, Lídia Darder, Carles Zafon, Juan Antonio Hueto, Margarita Alberola, Enric Caubet, Jordi Mesa
: Skeletal manifestations of primary hyperparathyroidism (pHPT) include brown tumors (BT), which are osteoclastic focal lesions often localized in the jaws. Brown tumors are a rare manifestation of pHTP in Europe and USA; however, they are frequent in developing countries, probably related to vitamin D deficiency and longer duration and severity of disease. In the majority of cases, the removal of the parathyroid adenoma is enough for the bone to remineralize, but other cases require surgery...
2016: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/27933138/treatment-options-for-spontaneous-and-postoperative-sclerosing-mesenteritis
#11
Jennifer Klasen, Ulrich Güller, Brigitte Muff, Daniel Candinas, Christian A Seiler, René Fahrner
Sclerosing mesenteritis is a rare pathology with only a few described cases in the literature. The etiology is unclear; however, several potential triggers, including abdominal surgery and abdominal trauma, have been discussed. The pathology includes a benign acute or chronic inflammatory process affecting the adipose tissue of the mesenterium. Despite it being a rare disease, sclerosing mesenteritis is an important differential diagnosis in patients after abdominal surgery or patients presenting spontaneously with signs of acute inflammation and abdominal pain...
November 27, 2016: World Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/27932898/two-cases-of-vogt-koyanagi-harada-s-disease-in-sub-saharan-africa
#12
Tunji S Oluleye, Adekunle O Rotimi-Samuel, Adetunji Adenekan, Olubanke T Ilo, Folashade B Akinsola, Adeola O Onakoya, Olufisayo T Aribaba, Adebukunola Adefule-Ositelu, Kareem O Musa, Yele Oyefeso
Vogt-Koyanagi-Harada's (VKH) disease has been reported to be rare in sub-Saharan Africa. Two Nigerians with the disease are presented in this report. The first patient, a 32-year-old pregnant Nigerian woman presented with a 1-month history of bilateral blurring of vision, persistent headache, and alopecia. Presenting visual acuity was 1 m counting fingers in both eyes. Examination revealed vitiligo and poliosis with bilateral panuveitis as well as bilateral exudative retinal detachment. A clinical assessment of complete VKH disease was made...
2016: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/27932892/the-evolution-of-the-diminishing-role-of-extrapleural-pneumonectomy-in-the-surgical-management-of-malignant-pleural-mesothelioma
#13
REVIEW
Abdel-Ghani Azzouqa, James P Stevenson
Malignant pleural mesothelioma is an uncommon and aggressive thoracic malignancy that is rarely curable, even when multimodality therapy is used. Systemic chemotherapy is the primary treatment for the majority of patients with this disease; however, surgical resection may benefit a subset of patients with early-stage disease. The surgical approach that offers the best outcomes remains an area of controversy, with data from retrospective comparisons being the only guide. Historically, extrapleural pneumonectomy (EPP) has been the standard procedure, carrying with it a cost of significant morbidity and impact on quality of life that has raised questions regarding its routine application...
2016: OncoTargets and Therapy
https://www.readbyqxmd.com/read/27932776/nasal-type-extranodal-natural-killer-t-nk-t-cell-lymphoma-presenting-as-periorbital-cellulitis-a-case-report
#14
Ma'in Ali Al Shawabkeh, Mansour Al Sulaiti, Hamad Al Sa'ey, Shanmugam Ganesan
BACKGROUND Extranodal lymphoma of the paranasal sinuses is a rare clinical entity seen in only 5-8% of extranodal lymphomas of the head and neck. Nasal natural killer/T cell lymphoma (Nasal NKTCL), which is a subtype of peripheral T cell lymphoma, constitutes about 1.4% of all lymphomas. NKTCL is usually diagnosed at a late stage because it presents with nonspecific symptoms in the early stages. CASE REPORT We report the case of a 25-year-old male patient who presented with periorbital swelling treated as fungal sinusitis but proven to have NKTCL...
December 9, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27932596/infantile-lhermitte-duclos-disease-treated-successfully-with-rapamycin
#15
Megan Zak, Mark Ledbetter, Paul Maertens
Lhermitte-Duclos disease is a rare hamartomatous tumor of the cerebellum resulting from a mutation in the phosphatase and tensin homolog (PTEN) gene: it has been reported in fewer than 10 infants. Rapamycin treatment has not yet been described in Lhermitte-Duclos disease. The infant underwent shunt placement shortly after birth for aqueductal stenosis. Her clinical progression included failure to thrive, seizures, episodes of decerebrate posturing, loss of respiratory drive, and pituitary insufficiency from mass effect...
December 8, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27932277/detection-of-subclinical-ultrasound-enthesopathy-and-nail-disease-in-patients-at-risk-of-psoriatic-arthritis
#16
Marie Acquitter, Laurent Misery, Alain Saraux, Luc Bressollette, Sandrine Jousse-Joulin
OBJECTIVES: To detect subclinical entheses and nail abnormalities using gray-scale (GS) and power Doppler ultrasonography (PDUS) between patients with nail psoriasis and those with inverse and scalp psoriasis. METHODS: In this prospective monocentric study, patients with nail, inverse and scalp psoriasis, without psoriatic arthritis or systemic treatment, were included. Clinical evaluation and ultrasonographic assessment of 14 entheses and 12 nails were done by a dermatologist (clinical assessment) and a rheumatologist (ultrasonographic assessment)...
December 5, 2016: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/27932211/a-novel-class-of-somatic-mutations-in-blood-detected-preferentially-in-cd8-cells
#17
Miko Valori, Lilja Jansson, Anna Kiviharju, Pekka Ellonen, Hanna Rajala, Shady Adnan Awad, Satu Mustjoki, Pentti J Tienari
Somatic mutations have a central role in cancer but their role in other diseases such as autoimmune disorders is poorly understood. Earlier work has provided indirect evidence of rare somatic mutations in autoreactive T-lymphocytes in multiple sclerosis (MS) patients but such mutations have not been identified thus far. We analysed somatic mutations in blood in 16 patients with relapsing MS and 4 with other neurological autoimmune disease. To facilitate the detection of somatic mutations CD4+, CD8+, CD19+ and CD4-/CD8-/CD19- cell subpopulations were separated...
December 5, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/27932197/crucial-role-of-carotid-ultrasound-for-the-rapid-diagnosis-of-hyperacute-aortic-dissection-complicated-by-cerebral-infarction-a-case-report-and-literature-review
#18
Eglė Sukockienė, Kristina Laučkaitė, Antanas Jankauskas, Dalia Mickevičienė, Giedrė Jurkevičienė, Antanas Vaitkus, Edgaras Stankevičius, Kęstutis Petrikonis, Daiva Rastenytė
Aortic dissection is a life-threatening rare condition that may virtually present by any organ system dysfunction, the nervous system included. Acute cerebral infarction among multiple other neurological and non-neurological presentations is part of this acute aortic syndrome. Rapid and correct diagnosis is of extreme importance keeping in mind the possibility of thrombolytic treatment if a patient with a suspected ischemic stroke arrives to the Emergency Department within a 4.5-h window after symptom onset...
November 19, 2016: Medicina
https://www.readbyqxmd.com/read/27932172/liver-transplantation-in-an-adult-recipient-with-situs-inversus-totalis-case-report-and-review-of-the-literature
#19
P Tabrizian, T T Joseph, P Radkani, E Cohen, M Facciuto
BACKGROUND: Over the past few decades, reports have demonstrated the feasibility of liver transplantation in adult patients with situs inversus. However, this disease entity remains rare and experience remains limited in adult recipients with situs inversus undergoing transplantation. METHODS: A 23-year-old woman with situs inversus totalis and end-stage liver disease secondary to congenital biliary atresia was referred to our center and underwent a successful orthotopic liver transplantation...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27932171/recurrence-of-progressive-familial-intrahepatic-cholestasis-type-2-phenotype-after-living-donor-liver-transplantation-a-case-report
#20
K Masahata, S Uehara, S Ibuka, K Nakahata, Y Hasegawa, H Kondou, R Kubitz, T Ueno
BACKGROUND: Progressive familial intrahepatic cholestasis 2 (PFIC2) is the result of mutations in the ABCB11, which encodes for bile salt export pump (BSEP). An absence of BSEP in the canalicular membrane causes cholestasis and leads to the development of end-stage liver disease in the first decade of life. Liver transplantation (LT) has been considered curative for BSEP disease. However, patients with PFIC2 having undergone LT have recently been reported to develop recurrence of cholestasis together with the clinical and histological features of primary BSEP disease...
November 2016: Transplantation Proceedings
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