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https://www.readbyqxmd.com/read/29782300/poikilodermatous-mycosis-fungoides-rare-entity-different-treatment-modalities
#1
Sandra Jerković Gulin, Romana Čeović, Ivana Ilić, Mirna Bradamante, Zrinka Bukvić Mokos, Krešimir Kostović
Poikilodermatous mycosis fungoides (PMF) is a rare clinical variant of early-stage MF with peculiar histological features. Poikiloderma occurs in many different clinical conditions, which makes a diagnostic procedure more complicated. PMF belongs to a group of MF variants with low risk of disease progression. We report a case of a 64-year-old woman, who presented with mottled skin aspect of erythema, poikilodermatous patches (hypopigmentation, hyperpigmentation, atrophy, and telangiectasia) on more than 80% of the body...
April 2018: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/29782260/-polymorphisms-of-the-scn10a-gene-in-patients-with-sick-sinus-syndrome
#2
S Y Niculina, O V Marilovceva, A A Chernova, S S Tret'jakova, D A Nikulin, V N Maksimov
PURPOSE: To study association of rs6795970 polymorphism of SCN10A gene with development of idiopathic sick sinus syndrome (ISSS). MATERIALS AND METHODS: We examined 109 patients with ISSS, 59 their healthy 1‑st-, 2‑nd-, and 3‑rd-degree relatives, and 630 controls. Patients with ISSS were divided into subgroups according to gender and clinical variant of the disease. All patients underwent cardiologic examination and molecular genetic testing of DNA. RESULTS: We revealed significant preponderance of homozygous genotype with rare allele of the studied gene among patients with ISSS compared with control group...
April 2018: Kardiologiia
https://www.readbyqxmd.com/read/29781137/variants-in-actg2-underlie-a-substantial-number-of-australasian-patients-with-primary-chronic-intestinal-pseudo-obstruction
#3
G Ravenscroft, S Pannell, G O'Grady, R Ong, H C Ee, F Faiz, L Marns, H Goel, P Kumarasinghe, E Sollis, P Sivadorai, M Wilson, A Magoffin, S Nightingale, M-L Freckmann, E P Kirk, R Sachdev, D A Lemberg, M B Delatycki, M A Kamm, C Basnayake, P J Lamont, D J Amor, K Jones, J Schilperoort, M R Davis, N G Laing
BACKGROUND: Primary chronic intestinal pseudo-obstruction (CIPO) is a rare, potentially life-threatening disorder characterized by severely impaired gastrointestinal motility. The objective of this study was to examine the contribution of ACTG2, LMOD1, MYH11, and MYLK mutations in an Australasian cohort of patients with a diagnosis of primary CIPO associated with visceral myopathy. METHODS: Pediatric and adult patients with primary CIPO and suspected visceral myopathy were recruited from across Australia and New Zealand...
May 21, 2018: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29780788/successfully-removed-uterine-angioleiomyoma-by-robot-assisted-laparoscopic-myomectomy
#4
Hyunkyung Kim, Jin-Ju Lee, Yonghee Choi, Minkyoung Lee, Hye-Jin Hwang, Youn-Jee Chung, Hyun-Hee Cho, Mee-Ran Kim
Angioleiomyoma is a rare type of leiomyoma variant and there are a few cases reported to date. Herein, we present a case of angioleiomyoma in a 36-year-old woman with lower abdominal pain, initially diagnosed by degenerated uterine leiomyoma. The transvaginal ultrasonogram showed an ovoid-shaped heterogeneously hyperechoic lesion in left cornual site of uterus and pelvic magnetic resonance image showed an about 5.1 cm sized heterogenous T2 intermediate high mass with poor enhancement. The patient underwent a robot-assisted laparoscopic myomectomy, and final histopathologic diagnosis revealed uterine angioleiomyoma...
May 2018: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/29780647/rare-but-not-infrequent-infective-endocarditis-caused-by-abiotrophia-defectiva
#5
Sonia Chowdhury, Matthew L German
Endocarditis (IE) is defined by an infection of a native or prosthetic heart valve, the mural endocardium, or an indwelling cardiac device. Although viridan-group streptococci (VGS) and Staphylococci species have collectively been considered as the most common cause of endocarditis, uncommon pathogens may also lead to the disease with significant morbidity and mortality. Abiotrophia defectiva , a nutritionally variant streptococci (NVS), is a virulent bacterium that preferentially affects endovascular structure and is implicated in many culture-negative endocarditis with dreadful complications such as heart failure, septic embolization, and valve destruction...
2018: Case Reports in Infectious Diseases
https://www.readbyqxmd.com/read/29780256/the-utilization-of-next-generation-sequencing-to-detect-somatic-mutations-and-predict-clinical-prognosis-of-chinese-non-small-cell-lung-cancer-patients
#6
Liming Cao, Long Long, Min Li, Huaping Yang, Pengbo Deng, Xinru Mao, Jianxing Xiang, Bing Li, Tengfei Zhang, Chengping Hu
Purpose: The development of next-generation sequencing (NGS) has revolutionized the understanding of oncogenesis of multiple types of cancer, including non-small cell lung cancer (NSCLC). However, there has been some debate over the utility of NGS for predicting patient prognosis and determining molecular targeted therapy. Therefore, we sought to demonstrate the numerous applications of NGS in the prognostic predictions and treatment of NSCLC patients. Materials and methods: We performed NGS on either liquid or tissue tumor biopsies obtained from 53 NSCLC patients...
2018: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29780233/spinal-meningeal-melanocytoma-in-a-5-year-old-child-a-case-report-and-review-of-literature
#7
Ahmed M Salah El-Din, Hashem M Aboul-Ela, Mohamed F Alsawy, Ahmed Koheil, Ahmed H Ashry
Background: Meningeal melanocytoma is considered a rare lesion arising from leptomeningeal melanocytes. Nearly two thirds of meningeal melanocytomas were reported in the intracranial compartment and the remaining one third in the spine. Spinal melanocytomas can be extradural or intradural, with extradural variant being more common, and the majority of cases have been single reports. Methods: A 5-year-old male presented with a 4-month history of non-radiating low back pain persistent at rest, with otherwise non-remarkable medical history...
2018: Egypt J Neurol Psychiatr Neurosurg
https://www.readbyqxmd.com/read/29779990/may-thurner-syndrome-in-operative-ankle-fracture-dislocations-a-case-report
#8
Joshua L Moore, Kelly M Pirozzi, Corine Creech, Benjamin Marder
May-Thurner syndrome (MTS) is a rare condition in which patients develop iliofemoral deep venous thrombosis owing to an anatomic variant in which the right common iliac artery overlies and compresses the left common iliac vein against the lumbar spine. Data regarding lower extremity trauma in patients with previously diagnosed MTS are rare. We discuss the operative approach for ankle trauma occurring 3 weeks after endovascular surgery for the treatment of MTS.
May 17, 2018: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29779757/neutral-lipid-storage-disease-with-myopathy-further-phenotypic-characterization-of-a-rare-pnpla2-variant
#9
Caitlin S Latimer, Jennifer Schleit, Adam Reynolds, Desiree A Marshall, Benjamin Podemski, Leo H Wang, Luis F Gonzalez-Cuyar
Neutral lipid storage disease with myopathy is a rare disorder of lipid metabolism caused by variants in the Patatin-Like Phospholipase Domain Containing 2 (PNPLA2) gene. Diagnosis is often delayed due to variable presentations, which is of concern due to increased risk of cardiomyopathy. Better phenotype-genotype characterization is necessary to improve speed and accuracy of diagnosis. Here, we describe a 32-year-old woman of Hmong descent with progressive muscle pain and weakness who had a muscle biopsy with characteristic features of a lipid storage myopathy...
April 19, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29778030/retrospective-genotype-phenotype-analysis-in-a-305-patient-cohort-referred-for-testing-of-a-targeted-epilepsy-panel
#10
Andrew N Hesse, Jennifer Bevilacqua, Kritika Shankar, Honey V Reddi
PURPOSE: Epilepsy is a diverse neurological condition with extreme genetic and phenotypic heterogeneity. The introduction of next-generation sequencing into the clinical laboratory has made it possible to investigate hundreds of associated genes simultaneously for a patient, even in the absence of a clearly defined syndrome. This has resulted in the detection of rare and novel mutations at a rate well beyond our ability to characterize their effects. This retrospective study reviews genotype data in the context of available phenotypic information on 305 patients spanning the epileptic spectrum to identify established and novel patterns of correlation...
May 16, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29776178/rare-behavior-of-growth-processes-via-umbrella-sampling-of-trajectories
#11
Katherine Klymko, Phillip L Geissler, Juan P Garrahan, Stephen Whitelam
We compute probability distributions of trajectory observables for reversible and irreversible growth processes. These results reveal a correspondence between reversible and irreversible processes, at particular points in parameter space, in terms of their typical and atypical trajectories. Thus key features of growth processes can be insensitive to the precise form of the rate constants used to generate them, recalling the insensitivity to microscopic details of certain equilibrium behavior. We obtained these results using a sampling method, inspired by the "s-ensemble" large-deviation formalism, that amounts to umbrella sampling in trajectory space...
March 2018: Physical Review. E
https://www.readbyqxmd.com/read/29774793/surgical-considerations-in-interrupted-aortic-arch
#12
Damien J LaPar, Christopher W Baird
Interrupted aortic arch (IAA) is a rare congenital anomaly with several anatomical variants and is often associated with other intracardiac and/or extracardiac congenital anomalies. Historically, associated with high early mortality, outcomes for this anomaly have improved in recent eras with advances in perioperative and anesthesia management and refinements in surgical technique. This review provides a description of surgical anatomy, anatomical classifications, and associated congenital lesions as well as an examination of the perioperative and surgical management of IAA in the contemporary surgical era...
May 1, 2018: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/29774790/clear-cell-chondrosarcoma-with-chondroblastoma-like-features-a-case-for-team-diagnosis
#13
Ryan M Kiefer, John Wojcik, Kumarasen Cooper, Kristy L Weber, Ronnie Sebro
Clear cell chondrosarcoma (CCCS) is a rare variant of conventional chondrosarcoma with low-grade malignant features that may be confused radiographically and histologically with chondroblastoma. We report a case of a 50-year-old female who presented with 6 months of left hip pain. Initial radiographs demonstrated an osteolytic lesion with adjacent area of sclerosis in the proximal left femur. Magnetic resonance imaging demonstrated a marrow-infiltrative lesion with periosteal reaction and thickened enhancing periosteum...
May 1, 2018: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29774221/magnetic-resonance-imaging-findings-for-differential-diagnosis-of-perianal-plexiform-schwannoma-case-report-and-review-of-the-literature
#14
Xue-Liang Sun, Ke Wen, Zhi-Zhong Xu, Xiao-Peng Wang
Plexiform schwannoma is an extremely rare variant of schwannoma, accounting for approximately 5% of cases. Due to the rarity and lack of typical symptoms, signs and radiological images, a definite diagnosis of plexiform schwannoma may not be made by clinicians prior to biopsy. In the present study, we report the first case (to our knowledge) of perianal plexiform schwannoma arising from the overlapped skin of the ischioanal fossa, and we propose an intratumorally nonenhanced circumferential capsule dividing the tumour into multiple homogeneously enhanced nodules as a magnetic resonance imaging feature to aid in the differential diagnosis of plexiform schwannoma from ancient schwannoma, cavernous haemangioma, liposarcoma and plexiform neurofibroma...
May 16, 2018: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/29773422/a-novel-homozygous-abca1-variant-in-an-asymptomatic-man-with-profound-hypoalphalipoproteinemia
#15
Yaser Carcora, Robert D Brook, Linda Farhat, Cristen J Willer, Melvyn Rubenfire, Daniel Seung Kim
Low high-density lipoprotein cholesterol (HDL-C) can be caused by several acquired secondary causes as well as primary genetic disorders. However, only a few conditions are associated with profoundly reduced levels below 10 mg/dL. We present an unusual case of a healthy man with severely decreased HDL-C because of a novel homozygous variant causing a Proline > Arginine amino acid change at position 1312 in the ATP-binding cassette transporter A1 gene. Homozygous variations in ATP-binding cassette transporter A1 typically cause Tangier disease, a rare autosomal recessive condition linked with several other abnormalities (eg, enlarged discolored tonsils)...
April 21, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29773157/genetic-etiology-for-alcohol-induced-cardiac-toxicity
#16
James S Ware, Almudena Amor-Salamanca, Upasana Tayal, Risha Govind, Isabel Serrano, Joel Salazar-Mendiguchía, Jose Manuel García-Pinilla, Domingo A Pascual-Figal, Julio Nuñez, Gonzalo Guzzo-Merello, Emiliano Gonzalez-Vioque, Alfredo Bardaji, Nicolas Manito, Miguel A López-Garrido, Laura Padron-Barthe, Elizabeth Edwards, Nicola Whiffin, Roddy Walsh, Rachel J Buchan, William Midwinter, Alicja Wilk, Sanjay Prasad, Antonis Pantazis, John Baski, Declan P O'Regan, Luis Alonso-Pulpon, Stuart A Cook, Enrique Lara-Pezzi, Paul J Barton, Pablo Garcia-Pavia
BACKGROUND: Alcoholic cardiomyopathy (ACM) is defined by a dilated and impaired left ventricle due to chronic excess alcohol consumption. It is largely unknown which factors determine cardiac toxicity on exposure to alcohol. OBJECTIVES: This study sought to evaluate the role of variation in cardiomyopathy-associated genes in the pathophysiology of ACM, and to examine the effects of alcohol intake and genotype on dilated cardiomyopathy (DCM) severity. METHODS: The authors characterized 141 ACM cases, 716 DCM cases, and 445 healthy volunteers...
May 22, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29772816/alpha-mannosidosis-therapeutic-strategies
#17
REVIEW
Maria Rachele Ceccarini, Michela Codini, Carmela Conte, Federica Patria, Samuela Cataldi, Matteo Bertelli, Elisabetta Albi, Tommaso Beccari
Alpha-mannosidosis (α-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal α-d-mannosidase. So far, 155 variants from 191 patients have been identified and in part characterized at the biochemical level. Similarly to other lysosomal storage diseases, there is no relationship between genotype and phenotype in alpha-mannosidosis. Enzyme replacement therapy is at the moment the most effective therapy for lysosomal storage disease, including alpha-mannosidosis...
May 17, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29772366/giant-cell-ependymoma-of-cervical-medullary-junction-a-case-report-of-a-long-term-survivor-and-review-of-literature
#18
REVIEW
Martina Cappelletti, Andrea G Ruggeri, Giorgia Iacopino, Roberto Delfini
Ependymoma accounts for 3-9% of all neuroepithelial tumors. The giant cell ependymoma is a rare and distinct variant, of which only twenty-two cases have been described in literature. Starting from 2007, the WHO acknowledged this rare subtype. The cytological features of GCE are the presence of pleomorphic giant cells with several cellular atypias, which at intra-operative frozen diagnosis may appear to be high-grade glial lesions. Despite its apparently malignant histology, GCE seems to be a neoplasm with a relatively good prognosis...
May 14, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29772195/common-grounds-for-family-maladies
#19
Konrad Oexle, Juliane Winkelmann
Rare variants cause Mendelian family aggregation in subsets of common diseases, and common variants may contribute to rare diseases. In this issue of Neuron, Gormley et al. (2018) report that the common variant burden in familial migraine is larger than in migraine of the general population.
May 16, 2018: Neuron
https://www.readbyqxmd.com/read/29771769/systemic-chemotherapy-for-advanced-rare-pancreatic-histotype-tumors-a-retrospective-multicenter-analysis
#20
Oronzo Brunetti, Giuseppe Aprile, Paolo Marchetti, Enrico Vasile, Andrea Casadei Gardini, Mario Scartozzi, Sandro Barni, Sara Delfanti, Fernando De Vita, Francesco Di Costanzo, Michele Milella, Chiara Alessandra Cella, Rossana Berardi, Ivana Cataldo, Aldo Scarpa, Debora Basile, Federica Mazzuca, Giusi Graziano, Antonella Argentiero, Daniele Santini, Michele Reni, Stefano Cascinu, Nicola Silvestris
OBJECTIVES: Two issues were put forth by clinicians in the management of the advanced stages of rare variants of pancreatic ductal adenocarcinoma and other exocrine histotypes with peculiar clinical and pathological features: Do chemotherapy regimens recommended in pancreatic ductal adenocarcinoma patients have a clinical activity in rare pancreatic tumors? Or should other chemotherapy combinations be considered in this subset of patients? METHODS: We conducted a multicenter retrospective study that collected data from 2005 to 2016 at 14 Italian cancer centers with the aim to evaluate tumor response and time to progression for first- and second-line and overall survival...
May 15, 2018: Pancreas
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