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https://www.readbyqxmd.com/read/28538896/periungual-tegumentary-leishmaniasis-a-diagnostic-challenge
#1
Bruna Morassi Sasso, Ana Beatriz Barbosa Torino, Andréa Fernandes Eloy da Costa França, Paulo Eduardo Neves Ferreira Velho
Periungual and paronychia-like skin lesions can mimic various diseases, setting up a diagnostic challenge that invariably requires correlation with complementary tests. We report a case of an ulcerated tumor of the nailfold diagnosed as leishmaniasis. Although paronychia-like cutaneous leishmaniasis is a rare variant, its epidemiological relevance in Brazil should prompt dermatologists to include it as a plausible diagnosis thus leading to correct work up and treatment.
March 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28538409/a-case-report-of-pedigree-of-a-homozygous-mutation-of-the-steroidogenic-acute-regulatory-protein-causing-lipoid-congenital-adrenal-hyperplasia
#2
Rong Fu, Lin Lu, Jun Jiang, Min Nie, Xiaojing Wang, Zhaolin Lu
RATIONALE: Lipoid congenital adrenal hyperplasia (LCAH) is extremely rare, but is the most fatal form of congenital adrenal hyperplasia resulting from mutations in the steroidogenic acute regulatory protein (STAR) gene. LCAH arises from severe defects in the conversion of cholesterol to pregnenolone, the precursor of all steroids. PATIENT CONCERNS: A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28537856/superficial-morphea-case-report-look-alikes-pathogenesis-and-treatment
#3
Jameson Loyal, Ivy I Norris, Elizabeth B Lester, Joseph C Pierson
Superficial morphea, a rare variant of morphea, is characterized by hypopigmented to hyperpigmented skin lesions located predominantly in a symmetric fashion at intertriginous sites. These patches and plaques typically lack the significant induration, contractures, and atrophy seen in other subtypes of morphea. Histologic examination is key for accurate diagnosis considering the number of similar conditions which may clinically mimic superficial morphea. Herein, we present a case of a 25-year-old woman who re-presented for consultation in our clinic after gradual progression of her skin lesions...
May 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28535294/hgva-the-human-genome-variation-archive
#4
Javier Lopez, Jacobo Coll, Matthias Haimel, Swaathi Kandasamy, Joaquin Tarraga, Pedro Furio-Tari, Wasim Bari, Marta Bleda, Antonio Rueda, Stefan Gräf, Augusto Rendon, Joaquin Dopazo, Ignacio Medina
High-profile genomic variation projects like the 1000 Genomes project or the Exome Aggregation Consortium, are generating a wealth of human genomic variation knowledge which can be used as an essential reference for identifying disease-causing genotypes. However, accessing these data, contrasting the various studies and integrating those data in downstream analyses remains cumbersome. The Human Genome Variation Archive (HGVA) tackles these challenges and facilitates access to genomic data for key reference projects in a clean, fast and integrated fashion...
May 23, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28534127/genetics-of-triglycerides-and-the-risk-of-atherosclerosis
#5
REVIEW
Jacqueline S Dron, Robert A Hegele
PURPOSE OF REVIEW: Plasma triglycerides are routinely measured with a lipid profile, and elevated plasma triglycerides are commonly encountered in the clinic. The confounded nature of this trait, which is correlated with numerous other metabolic perturbations, including depressed high-density lipoprotein cholesterol (HDL-C), has thwarted efforts to directly implicate triglycerides as causal in atherogenesis. Human genetic approaches involving large-scale populations and high-throughput genomic assessment under a Mendelian randomization framework have undertaken to sort out questions of causality...
July 2017: Current Atherosclerosis Reports
https://www.readbyqxmd.com/read/28534081/power-of-pedigree-likelihood-analysis-in-extended-pedigrees-to-classify-rare-variants-of-uncertain-significance-in-cancer-risk-genes
#6
Elisabeth A Rosenthal, John Michael O Ranola, Brian H Shirts
Rare and private variants of uncertain significance (VUS) are routinely identified in clinical panel, exome, and genome sequencing. We investigated the power of single family co-segregation analysis to aid classification of VUS. We simulated thousands of pedigrees using demographics in China and the United States, segregating benign and pathogenic variants. Genotypes and phenotypes were simulated using penetrance models for Lynch syndrome and breast/ovarian cancer. We calculated LOD scores adjusted for proband ascertainment (LODadj), to determine power to yield quantitative evidence for, or against, pathogenicity of the VUS...
May 22, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28534073/surgical-treatment-of-intraforaminal-extraforaminal-lumbar-disc-herniations-many-approaches-for-few-surgical-routes
#7
REVIEW
Giorgio Lofrese, Lorenzo Mongardi, Francesco Cultrera, Giorgio Trapella, Pasquale De Bonis
BACKGROUND: Several disc disease nomenclatures and approaches for LDH exist. The traditional midline bone-destructive procedures together with approaches requiring extreme muscular retraction are being replaced by muscle sparing, targeted, stability-preserving surgical routes. The increasing speculation on LDHs and the innovative corridors described to treat them have lead to an extensive production of papers frequently treating the same topic but adopting different terminologies and reporting contradictory results...
May 22, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28533196/transformation-of-mycosis-fungoides-sezary-syndrome-clinical-characteristics-and-prognosis
#8
Seçil Vural, Bengü Nisa Akay, Ayşenur Botsalı, Erden Atilla, Nehir Parlak, Aylin Okçu Heper, Hatice Şanlı
INTRODUCTION: Transformed mycosis fungoides (T-MF) is a rare variant of mycosis fungoides (MF) with an aggressive course. OBJECTIVES: In this study we aimed to describe characteristics MF/Sezary syndrome (SS) cases with transformation. MATERIALS AND METHODS: Patients diagnosed with transformed MF (T-MF) among MF/SS patients between 2000 and 2014 in a single center are evaluated retrospectively.Demographic, clinical, laboratory, immunophenotype features, response to treatment, survival and histopathologic features were analyzed...
May 23, 2017: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/28532774/genotype-positive-long-qt-syndrome-in-patients-with-coexisting-congenital-heart-disease
#9
Mohammed A Ebrahim, Matthew R Williams, Suzanne Shepard, James C Perry
Congenital long QT syndrome (LQTS) is characterized by QT prolongation with predisposition to life-threatening arrhythmia. There have been sporadic reports of LQTS coexisting with more common forms of congenital heart disease (CHD). However, the diagnosis of LQTS when CHD is present may be confounded by several common variables including postoperative electromechanical factors predisposing to ventricular arrhythmia, intrinsic, and postoperative QRS abnormalities. This report documents a single-center experience with patients who have both genetically confirmed LQTS and CHD to examine their modes of presentation and factors associated with making the diagnosis of LQTS in this patient population, as well as potential confounding variables that may mask or delay both LQTS diagnosis and initiation of therapy...
April 27, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28532585/genetics-of-sudden-cardiac-death-an-epidemiologic-perspective
#10
Stefan Kääb
Despite a positive family history of SCD being associated with increased risk for SCD in the offspring, the genetic contribution to SCD in general and in proportion to the population at risk is considered to be small. The majority of SCD is rated a common disease with multi allelic susceptibility markers of minor effect size each. A smaller proportion of obvious familial forms of early onset SCD, or SCD in the young on the other hand is clearly linked to genetics. Here frequently, rare genetic variants with strong effects carry the major risk for SCD...
June 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28531870/an-unusual-case-of-jaundice-biliary-tumor-thrombus-in-fibrolamellar-hepatocellular-carcinoma
#11
Jairo A Espinosa, Alex Merlo, Mohamed-Omar Arafeh, Gitonga Munene
BACKGROUND: Fibrolamellar hepatocellular carcinoma (FL-HCC) is a rare and unique variant of hepatocellular carcinoma (HCC) whose presentation remains inadequately described. We present a resectable case of FL-HCC which involved tumor thrombus of the common bile duct. PRESENTATION: A 27 year-old male presenting with jaundice, abdominal pain, vomiting, hepatic dysfunction and hyperbilirubinemia was found to have a large liver mass and lymphadenopathy on preoperative imaging...
May 12, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28531322/evaluation-of-ifitm3-rs12252-association-with-severe-pediatric-influenza-infection
#12
Adrienne G Randolph, Wai-Ki Yip, E Kaitlyn Allen, Carrie M Rosenberger, Anna A Agan, Stephanie A Ash, Yu Zhang, Tushar R Bhangale, David Finkelstein, Natalie Cvijanovich, Peter M Mourani, Mark Hall, Helen C Su, Paul G Thomas
Background: Interferon inducible transmembrane protein 3 (IFITM3) restricts endocytic fusion of influenza virus. IFITM3 rs12252_C, a putative alternate splice site, has been associated with influenza severity in adults. IFITM3 has not been evaluated in pediatric influenza. Methods: The PICFLU Study enrolled children with suspected influenza infection across 38 pediatric intensive care units November 2008 to April 2016. IFITM3 was sequenced in patients and parents were genotyped for specific variants for family-based association testing...
May 20, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28530782/multiple-thoracic-vertebral-fractures-as-a-complication-of-cardiopulmonary-resuscitation-a-case-report
#13
Tae Seok Jeong, Sang Gu Lee
A 50-year-old man experienced cardiac arrest. The patient underwent standard cardiopulmonary resuscitative measures for approximately 20 minutes before spontaneous circulation returned. He was diagnosed with variant angina, and subsequent imaging for evaluation of upper back pain revealed fractures of the fifth through eighth thoracic vertebrae. Multiple thoracic vertebral fractures are extremely rare. Here we report a case of multiple thoracic vertebral fractures as a complication of cardiopulmonary resuscitation...
May 2017: Ulusal Travma Ve Acil Cerrahi Dergisi, Turkish Journal of Trauma & Emergency Surgery: TJTES
https://www.readbyqxmd.com/read/28530493/cutaneous-adenoid-cystic-carcinoma-with-perineural-invasion-diagnosed-in-the-foot-a-case-report
#14
Modupe M Agunbiade, Sanaz Lalehparvar, Morteza Khaladj
Adenoid cystic carcinoma is a rare, slow-growing neoplasm. It is most commonly located in the salivary glands, affects people older than 55 years of age, and has a predilection for women. These lesions may recur locally but have shown low metastatic potential. We present the unique case of a 71-year-old female with a nonraised hyperpigmented lesion isolated to the right heel. Confusion surrounded the clinical presentation of this dermatologic lesion, and many physicians postulated several differential diagnoses...
May 22, 2017: Journal of the American Podiatric Medical Association
https://www.readbyqxmd.com/read/28530265/papillary-squamous-cell-carcinoma-of-the-palatine-tonsil-a-rare-cancer-of-the-head-and-neck
#15
A Serra, R Caltabiano, G Scalia, S Palmucci, P Di Mauro, S Cocuzza
Papillary squamous neoplasms of the upper respiratory tract are rare variants of squamous cell carcinomas. They are characterised by an exophytic, papillary growth and generally have favourable prognosis. The tumour has been described in the upper aerodigestive tract. In this context, most common sites of involvement are the larynx and hypopharynx, and rarely the oral cavity and oropharynx. The limited studies and small number of published cases of papillary squamous cell carcinoma of the palatine tonsil led us to make a complete analysis of this tumour by analysing the clinical, histological, radiological, virological and therapeutic aspects that are not always present in the literature...
May 22, 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/28530160/eagle-syndrome-a-case-report-of-stylocarotid-syndrome-with-internal-carotid-artery-dissection
#16
Travis W Smoot, Ammar Taha, Nicholas Tarlov, Blake Riebe
Eagle syndrome is defined by an elongated styloid process or a calcified stylohyoid ligament that impinges on surrounding structures and causes a variety of symptoms. Classically, Eagle syndrome presents as neck, throat, or ear pain. The vascular variant, stylocarotid syndrome, can present as headache, transient ischemic attack, or stroke. Carotid artery dissection is a rare complication of stylocarotid syndrome. We report a case of stylocarotid syndrome in a 60-year-old man who presented with a right internal carotid artery (ICA) dissection and focal neurological deficits...
January 1, 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/28529975/phylogenetic-analyses-suggest-that-factors-other-than-the-capsid-protein-play-a-role-in-the-epidemic-potential-of-gii-2-norovirus
#17
Kentaro Tohma, Cara J Lepore, Lauren A Ford-Siltz, Gabriel I Parra
Norovirus is the leading cause of acute gastroenteritis worldwide. For over two decades, a single genotype (GII.4) has been responsible for most norovirus-associated cases. However, during the winter of 2014 to 2015, the GII.4 strains were displaced by a rarely detected genotype (GII.17) in several countries of the Asian continent. Moreover, during the winter of 2016 to 2017, the GII.2 strain reemerged as predominant in different countries worldwide. This reemerging GII.2 strain is a recombinant virus that presents a GII...
May 2017: MSphere
https://www.readbyqxmd.com/read/28529810/molecular-profiling-a-case-of-zbtb16-rara-acute-promyelocytic-leukemia
#18
Stephen E Langabeer, Lisa Preston, Johanna Kelly, Matt Goodyer, Ezzat Elhassadi, Amjad Hayat
Several variant RARA translocations have been reported in acute promyelocytic leukemia (APL) of which the t(11;17)(q23;q21), which results in a ZBTB16-RARA fusion, is the most widely identified and is largely resistant to therapy with all-trans retinoic acid (ATRA). The clinical course together with the cytogenetic and molecular characterization of a case of ATRA-unresponsive ZBTB16-RARA APL is described. Additional mutations potentially cooperating with the translocation fusion product in leukemogenesis have been hitherto unreported in ZBTB16-RARA APL and were sought by application of a next-generation sequencing approach to detect those recurrently found in myeloid malignancies...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28529705/case-report-beh%C3%A3-et-s-disease-accompanied-with-vitiligo
#19
Ragıp Ertaş, Kemal Özyurt, Atıl Avcı, Sule Ketenci Ertas, Mustafa Atasoy
Recently, a few case reports and clinical studies have been published that explore the association of Behçet's Disease (BD) and vitiligo, with conflicting results. Genetic and immunological properties of BD and presence of autoantibodies support autoimmunity, but clinical features suggest autoinflammatory diseases. BD is thought to be a cornerstone between autoimmune and autoinflammatory diseases. On the other hand, vitiligo has been accepted as an autoimmune disease with associations of other autoimmune disorders and there is a possible role of autoimmunity in pathogenesis of the disease...
2017: F1000Research
https://www.readbyqxmd.com/read/28529424/plaque-like-giant-dermatofibroma-a-case-report
#20
Vinitha Varghese Panicker, Andezhuthu Divakaran Dharmaratnam, N V Seethalekshmy
Dermatofibroma, also known as benign fibrous histiocytoma, is a soft-tissue tumour that usually occurs in the mid-adult life and shows a slight female predominance. Giant dermatofibroma, a very rare clinical variant, is characterised by its unusually large size, benign biological behaviour despite its large size and same histopathological characteristics as conventional dermatofibroma. We report a 63-year-old woman who presented with a large tumour on the scapular region which showed histopathological features of benign dermatofibroma...
January 2017: Journal of Cutaneous and Aesthetic Surgery
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