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https://www.readbyqxmd.com/read/28931044/the-performance-of-a-new-local-false-discovery-rate-method-on-tests-of-association-between-coronary-artery-disease-cad-and-genome-wide-genetic-variants
#1
Shuyan Mei, Ali Karimnezhad, Marie Forest, David R Bickel, Celia M T Greenwood
The maximum entropy (ME) method is a recently-developed approach for estimating local false discovery rates (LFDR) that incorporates external information allowing assignment of a subset of tests to a category with a different prior probability of following the null hypothesis. Using this ME method, we have reanalyzed the findings from a recent large genome-wide association study of coronary artery disease (CAD), incorporating biologic annotations. Our revised LFDR estimates show many large reductions in LFDR, particularly among the genetic variants belonging to annotation categories that were known to be of particular interest for CAD...
2017: PloS One
https://www.readbyqxmd.com/read/28929565/synthesis-and-utilization-of-nitroalkyne-equivalents-in-batch-and-continuous-flow
#2
Peter D Morse, Timothy F Jamison
We report a method for overcoming the low stability of nitroalkynes through the development of nitrated vinyl silyltriflate equivalents. Because of their instability, nitroalkynes have only rarely been utilized in synthesis. The reactivity of these silyltriflates, which are prepared in situ, is exemplified by dipolar cycloaddition reactions with nitrones to give highly substituted 4-nitro-4-isoxazolines in high yields. This approach has proven general for several different alkyl and aryl substituted alkynes...
September 19, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/28929550/characteristics-and-clinical-outcomes-of-pleomorphic-lobular-carcinoma-in-situ-of-the-breast
#3
Carolina E Fasola, Jie Jane Chen, Kristin C Jensen, Kimberly H Allison, Kathleen C Horst
Pleomorphic lobular carcinoma in situ (PLCIS) of the breast is a rare variant of lobular carcinoma in situ (LCIS). We reviewed 78 cases of PLCIS diagnosed at our institution from 1998 to 2012. Among all cases, 47 (60%) were associated with invasive carcinoma and/or ductal carcinoma in situ (DCIS) after final surgical excision. Of the 20 cases with PLCIS alone on core needle biopsy (CNB), 6 (30%) were upgraded to invasive carcinoma or DCIS after final surgical excision. Our findings support a recommendation for complete surgical excision of PLCIS when diagnosed on CNB...
September 19, 2017: Breast Journal
https://www.readbyqxmd.com/read/28928785/a-unique-case-of-clear-cell-variant-of-calcifying-epithelial-odontogenic-tumor-involving-the-maxilla
#4
Rudra Prasad Chatterjee, Swagata Gayen, Sanchita Kundu, Moumita Chattaraj, Mousumi Pal, Sanjeet Das
Calcifying epithelial odontogenic tumor (CEOT) is a rare, benign, odontogenic tumor arising from the odontogenic epithelium and accounts for approximately 1% of all odontogenic tumors. Clear cell variant of CEOT is a distinct entity and has more aggressive biological behavior and higher chances of recurrence. Here, we present a unique case of clear cell variant of CEOT involving the left side of the maxillary alveolus in a 73-year-old female patient with thorough clinical, radiological, and histological details...
July 2017: Dental Research Journal
https://www.readbyqxmd.com/read/28927835/evaluation-of-rice-tetraticopeptide-domain-containing-thioredoxin-as-a-novel-solubility-enhancing-fusion-tag-in-escherichia-coli
#5
Wenjun Xiao, Li Jiang, Weiyu Wang, Ruyue Wang, Jun Fan
Fusion of solubility-enhancing tag is frequently used for improving soluble production of target protein in Escherichia coli. The Arabidopsis tetraticopeptide domain-containing thioredoxin (TDX) has been documented to exhibit functions of disulfide reductase, foldase chaperone, and holdase chaperone. Here, we identified that fusion of rice TDX with the smaller size increased soluble expression levels of three fluorescent proteins with different fluorophores in the E. coli strain BL21(DE3) or the Rosetta (DE3) strain with coexpression of six rare tRNAs, but decreased conformational quality of certain fluorescent proteins, as comparison with the His6-tagged ones...
September 15, 2017: Journal of Bioscience and Bioengineering
https://www.readbyqxmd.com/read/28927663/developing-biomarkers-for-predicting-clinical-relapse-in-pemphigus-patients-treated-with-rituximab
#6
Lauren N Albers, Yuan Liu, Na Bo, Robert A Swerlick, Ron J Feldman
BACKGROUND: Rituximab is an effective therapy for pemphigus, although relapses are common. OBJECTIVE: To identify biomarkers to predict relapse of pemphigus following rituximab treatment. METHODS: In this retrospective cohort study, 62 patients with pemphigus treated with 99 rituximab cycles provided longitudinal clinical scoring and biomarker data, including levels of CD19(+) B cells, CD4(+) T cells, and desmoglein 1 (Dsg1) and desmoglein 3 (Dsg3) autoantibodies...
September 16, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28927574/pronator-teres-accessorius-a-new-variant-in-flexor-antebrachial-musculature
#7
S Kumari, P Chauhan, M Kathole, J Arora, R K Suri, M Kohli
Muscles of flexor compartment of forearm have a common origin from medial epicondyle of humerus. Additional bellies of flexor muscles are commonly reported but presence of supernumerary muscles is an infrequent phenomenon. The present study describes an unusual muscle mass in flexor compartment of forearm simulating pronator teres. During routine dissection the upper limb of a 50 years old male cadaver, a supernumerary muscle was found on left side of the upper limb in the flexor compartment. The origin of the muscle was 2cm wide and aponeurotic in nature and attached to an oblique line extending from the inferior surface of the medial epicondyle and the medial surface of the trochlea...
September 15, 2017: Morphologie: Bulletin de L'Association des Anatomistes
https://www.readbyqxmd.com/read/28927449/beyond-classic-dermoscopic-patterns-of-dermatofibromas-a-prospective-research-study
#8
Awatef Kelati, Nima Aqil, Hanane Baybay, Salim Gallouj, Fatima Zahra Mernissi
BACKGROUND: The usual stereotypical dermoscopic pattern associated with dermatofibromas is a pigment network and central white patch. However, this pattern may be difficult to diagnose in some variant cases. We aimed to describe dermoscopic patterns of dermatofibroma according to its histopathological subtypes, with special emphasis on new and rare dermoscopic features. METHODS: This prospective study, which was conducted between September 2015 and May 2016 in the Department of Dermatology, University Hospital Hassan II, Fez, Morocco, included 100 cases of dermatofibroma confirmed on clinical and histological grounds...
September 20, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28925593/fine-needle-aspiration-biopsy-diagnosis-of-primary-clear-cell-chondrosarcoma-a-case-report
#9
Kelsey E McHugh, Cynthia L Emory, Graham E Parks, Scott E Kilpatrick
Clear cell chondrosarcoma is a rare chondrosarcoma variant often involving the long bone epiphyses of young to middle aged adults. We report herein a case involving the left femoral head in a 25-year-old female with a 3-month history of worsening left hip pain. Radiographs revealed a complex, multifocal and lytic lesion centered in the left proximal femoral epiphysis with involvement of the femoral neck. Computed tomography-guided fine needle aspiration biopsy with concomitant core needle biopsy was performed, and a diagnosis of clear cell chondrosarcoma was rendered...
September 19, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28924526/first-report-of-tripled-retromolar-foramina
#10
Puhan He, Joe Iwanaga, Mindy K Truong, Nimer Adeeb, R Shane Tubbs, Koh-Ichi Yamaki
The retromolar foramen (RMF) is the bony entrance of the retromolar canal, through which a neurovascular bundle runs. It is essential to locate such anatomic variants in a patient in order to avoid complications in surgery, implant placement, or anesthesia of the area. To our knowledge, there has only been one case report of supernumerary RMF, which reported one bilateral doubled retromolar foramina and one doubled left RMF. We present an extremely rare case in which a right triple RMF was observed on cone beam computed tomography in a cadaver...
July 7, 2017: Curēus
https://www.readbyqxmd.com/read/28923673/monogenic-autoinflammatory-diseases-general-concepts-and-presentation-in-adult-patients
#11
REVIEW
José Hernández-Rodríguez, Estíbaliz Ruiz-Ortiz, Jordi Yagüe
Monogenic autoinflammatory diseases (AIFD) are rare disorders characterized by an uncontrolled increase of the systemic inflammatory response, which is caused by mutations in genes involved in inflammatory pathways. Over the last few years, new genes and proteins responsible for new monogenic AIFD have been identified and a substantial improvement in their treatment has been achieved. Monogenic AIFD manifestations typically begin during childhood, but they can also occur in adults. Compared to pediatric patients, adults usually present with a less severe disease and fewer long-term complications...
September 15, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28923119/alk-positive-gastric-inflammatory-myofibroblastic-tumor-in-an-adult-with-familial-adenomatous-polyposis-and-diffuse-fundic-polyposis
#12
Jun Fan, Bo Huang, Xiuping Yang, Ming Yang, Jun He, Xiu Nie
BACKGROUND: Inflammatory myofibroblastic tumor (IMT) of the stomach is extremely rare in adults and exhibits a variable biological behavior that ranges from frequently benign lesions to more aggressive variants. Here we report a case of gastric IMT with lymph node metastasis in an adult who had undergone total colectomy for familial adenomatous polyposis (FAP). CASE PRESENTATION: A 37-year-old man presented gradual-onset epigastric discomfort; he had undergone total colectomy for FAP 6 years before...
September 18, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28923092/dubin-johnson-syndrome-and-intrahepatic-cholestasis-of-pregnancy-in-a-sri-lankan-family-a-case-report
#13
Grace Angeline Malarnangai Kularatnam, Hewa Warawitage Dilanthi, Dinesha Maduri Vidanapathirana, Subashini Jayasena, Eresha Jasinge, Ginige Nalika Nirmalenede Silva, Kirinda Liyana Arachchige Manoj Sanjeeva Liyanarachchi, Pujitha Wickramasinghe, Manjit Singh Devgun, Veronique Barbu, Olivier Lascols
BACKGROUND: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy are rare chronic liver disorders. Dubin-Johnson syndrome may manifest as conjugated hyperbilirubinemia, darkly pigmented liver, presence of abnormal pigment in the parenchyma of hepatocytes and abnormal distribution of the coproporphyrin isomers I and III in the urine. Intrahepatic cholestatic jaundice of pregnancy presents as pruritus, abnormal liver biochemistry and increased serum bile acids. CASE PRESENTATION: A Sri Lankan girl presented with recurrent episodes of jaundice...
September 18, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28922940/linear-lichen-planus-continuum-from-skin-to-mucosa
#14
Mikhin George Thomas, Ambooken Betsy
Lichen planus (LP) is a chronic inflammatory disorder that most commonly affects middle-aged individuals. LP involves the skin and/or mucous membranes, including oral, vulvovaginal, esophageal, laryngeal, and conjunctival mucosa. Linear LP, a rare distinct variant of LP, is characterised by pruritic eruption of lichenoid and violaceous papules in a linear distribution. We report an unusual presentation of linear LP in a 14-year-old child that extended from the left anterior nares to upper lip and into the oral mucosa up to the upper gum margin...
September 1, 2017: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28920110/painful-neuropathy-caused-by-compression-of-the-inferior-alveolar-nerve-by-focal-osteosclerotic-lesion-of-the-mandible-a-case-report
#15
David Debevc, Tomaž Hitij, Andrej Kansky
Osteosclerotic lesions are a common finding on dental radiographs. They are considered developmental variants of a normal bone architecture and they usually do not need any treatment. The purpose of this article is to present a rare case of osteosclerotic lesion of the mandible causing trigeminal neuropathy by compression of the alveolar nerve. The pain started with dental hypersensitivity of the mandibular right first molar. Later on, signs of irreversible molar tooth pulpitis developed. Endodontic therapy and apicoectomy did not resolve the pain, which later intensified, and painful neuropathy localized to inferior alveolar nerve developed; therefore, surgical decompression was indicated...
2017: Quintessence International
https://www.readbyqxmd.com/read/28919077/engineering-quantitative-trait-variation-for-crop-improvement-by-genome-editing
#16
Daniel Rodríguez-Leal, Zachary H Lemmon, Jarrett Man, Madelaine E Bartlett, Zachary B Lippman
Major advances in crop yields are needed in the coming decades. However, plant breeding is currently limited by incremental improvements in quantitative traits that often rely on laborious selection of rare naturally occurring mutations in gene-regulatory regions. Here, we demonstrate that CRISPR/Cas9 genome editing of promoters generates diverse cis-regulatory alleles that provide beneficial quantitative variation for breeding. We devised a simple genetic scheme, which exploits trans-generational heritability of Cas9 activity in heterozygous loss-of-function mutant backgrounds, to rapidly evaluate the phenotypic impact of numerous promoter variants for genes regulating three major productivity traits in tomato: fruit size, inflorescence branching, and plant architecture...
September 13, 2017: Cell
https://www.readbyqxmd.com/read/28918587/genome-wide-association-studies-of-albuminuria-towards-genetic-stratification-in-diabetes
#17
REVIEW
Cristian Pattaro
Genome-wide association studies (GWAS) have been very successful in unraveling the polygenic structure of several complex diseases and traits. In the case of albuminuria, despite the large sample size achieved by some studies, results look sparse with a limited number of loci reported so far. This review searched for GWAS studies of albumin excretion, albuminuria, and proteinuria. The resulting picture sets elements of uniqueness for albuminuria GWAS with respect to other complex traits. So far, very few loci associated with albuminuria have been validated by means of genome-wide significant evidence or formal replication...
September 16, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28918053/ush2a-gene-editing-using-the-crispr-system
#18
Carla Fuster-García, Gema García-García, Elisa González-Romero, Teresa Jaijo, María D Sequedo, Carmen Ayuso, Rafael P Vázquez-Manrique, José M Millán, Elena Aller
Usher syndrome (USH) is a rare autosomal recessive disease and the most common inherited form of combined visual and hearing impairment. Up to 13 genes are associated with this disorder, with USH2A being the most prevalent, due partially to the recurrence rate of the c.2299delG mutation. Excluding hearing aids or cochlear implants for hearing impairment, there are no medical solutions available to treat USH patients. The repair of specific mutations by gene editing is, therefore, an interesting strategy that can be explored using the CRISPR/Cas9 system...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28916377/clinical-and-molecular-characterization-of-two-chinese-patients-with-type-2-congenital-generalized-lipodystrophy
#19
Ruimin Chen, Xin Yuan, Jian Wang, Ying Zhang
BACKGROUND: Type 2 congenital generalized lipodystrophy (CGL2, OMIM 269700) is a rare autosomal recessive disease, characterized by the generalized absence of adipose tissue at birth or in early infancy. Pathogenic variants in BSCL2 gene have been reported to be responsible for CGL2. The aim of this study is to analyze the clinical and genetic characteristics of two Chinese patients with CGL2, and with particular focus on the BSCL2 gene sequence variants. METHODS: Medical history, clinical manifestations, physical examination, laboratory data, and ultrasonography findings were analyzed for the two patients with CGL2...
September 12, 2017: Gene
https://www.readbyqxmd.com/read/28916123/reverse-takotsubo-cardiomyopathy-and-cardiogenic-shock-associated-with-methamphetamine-consumption
#20
Omar Chehab, Adam Ioannou, Akshat Sawhney, Alexandra Rice, Simon Dubrey
BACKGROUND: Reverse Takotsubo cardiomyopathy is characterized by transient myocardial hypokinesia affecting predominantly the basal myocardial wall. It is a rare variant of Takotsubo cardiomyopathy affecting younger patients. CASE REPORT: We report a case of a young man who having consumed methamphetamines presented with cardiogenic shock and severe left ventricular systolic dysfunction, affecting predominantly the basal segments with sparing of the apex. After inotropic support, the left ventricular ejection fraction improved...
September 12, 2017: Journal of Emergency Medicine
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