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https://www.readbyqxmd.com/read/29351094/clinical-and-molecular-characterization-of-nine-chinese-patients-affected-by-hypofibrinogenemia-or-dysfibrinogenemia
#1
Yingyu Wang, Wenbai Chen, Ping Ma, Liqing Zhu, Mingshan Wang
: Congential fibrinogen deficiency is a rare bleeding disorder caused by various mutations in three fibrinogen genes. It can be subdivided into four categories: afibrinogenemia, hypofibrinogenemia, hypodysfibrinogenemia and dysfbrinogenemia. This study was to elucidate the molecular defects in nine unrelated Chinese patients with hypofibrinogenemia or dysfibrinogenemia. Three fibrinogen genes were amplified by PCR and screened for variants. The identified variants were analyzed by bioinformatics prediction and molecular modeling analysis...
January 17, 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29350590/human-genetics-and-molecular-mechanisms-of-vein-of-galen-malformation
#2
Daniel Duran, Philipp Karschnia, Jonathan R Gaillard, Jason K Karimy, Mark W Youngblood, Michael L DiLuna, Charles C Matouk, Beverly Aagaard-Kienitz, Edward R Smith, Darren B Orbach, Georges Rodesch, Alejandro Berenstein, Murat Gunel, Kristopher T Kahle
Vein of Galen malformations (VOGMs) are rare developmental cerebrovascular lesions characterized by fistulas between the choroidal circulation and the median prosencephalic vein. Although the treatment of VOGMs has greatly benefited from advances in endovascular therapy, including technical innovation in interventional neuroradiology, many patients are recalcitrant to procedural intervention or lack accessibility to specialized care centers, highlighting the need for improved screening, diagnostics, and therapeutics...
January 19, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29350394/genetic-variants-in-the-polish-population-of-patients-with-pulmonary-arterial-hypertension-sequencing-of-bmpr2-alk1-and-eng-genes
#3
Barbara Uznańska-Loch, Kamil Wikło, Dominika Kulczycka-Wojdala, Bożena Szymańska, Łukasz Chrzanowski, Karina Wierzbowska-Drabik, Ewa Trzos, Jarosław Damian Kasprzak, Małgorzata Kurpesa
BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare disease with a very serious prognosis. It seems that mutations in genes related to the transforming growth factor-beta signaling pathway are often related to the development of the disease. There was no study in Polish population that would cover this problem. AIM: To screen for genetic mutations in Polish cohort of patients with pulmonary hypertension, especially with idiopathic PAH, treated in a single hospital in Poland...
January 19, 2018: Kardiologia Polska
https://www.readbyqxmd.com/read/29350113/asymptomatic-urethral-lymphogranuloma-venereum-a-case-report
#4
Louise Charest, Judith Fafard, Zoë R Greenwald
Since 2003, there has been a resurgence of lymphogranuloma venereum (LGV), a variant of Chlamydia trachomatis (CT), among men who have sex with men (MSM) in several urban areas of Europe and North America. LGV infection occurs most often at anal sites causing proctitis. Urethral and oropharyngeal infections are rare. In Quebec, LGV incidence has been increasing exponentially in recent years and the current guidelines support systematic LGV genotype testing among anorectal CT-positive samples only. This case report describes a patient with a urethral LGV infection, remarkable due to its prolonged asymptomatic development prior to the manifestation of an inguinal bubo...
January 1, 2018: International Journal of STD & AIDS
https://www.readbyqxmd.com/read/29349785/a-novel-mlph-variant-in-dogs-with-coat-colour-dilution
#5
A Bauer, A Kehl, V Jagannathan, T Leeb
Coat colour dilution may be the result of altered melanosome transport in melanocytes. Loss-of-function variants in the melanophilin gene (MLPH) cause a recessively inherited form of coat colour dilution in many mammalian and avian species including the dog. MLPH corresponds to the D locus in many domestic animals, and recessive alleles at this locus are frequently denoted with d. In this study, we investigated dilute coloured Chow Chows whose coat colour could not be explained by their genotype at the previously known MLPH:c...
January 19, 2018: Animal Genetics
https://www.readbyqxmd.com/read/29349367/a-rare-anatomic-variant-of-a-single-conduit-supraclavicular-cephalic-arch-draining-into-the-external-jugular-vein-presenting-with-recurrent-arteriovenous-fistula-stenosis-in-a-hemodialysis-patient
#6
Eran Sim Wen Jun, Allen Liu Yan Lun, Milind Nikam
The cephalic arch is a common location of stenosis, especially in brachiocephalic fistulas. The cephalic arch has a number of anatomic variations. Cephalic arch stenoses are often resistant and have poor primary patency. Here we describe an unusual case of a hemodialysis patient with a single-conduit supraclavicular cephalic arch draining into the external jugular vein presenting with recurrent cephalic arch stenoses and external jugular vein stenosis. In our view, extrinsic compression by the clavicle may contribute to the high rate of recurrence, the lack of complete dilation of even high-pressure balloons, and a theoretically heightened risk of rupture when cutting balloons are used...
March 2017: Journal of Vascular Surgery Cases and Innovative Techniques
https://www.readbyqxmd.com/read/29348827/molecular-genetic-profiling-and-high-throughput-in-vitro-drug-screening-in-nut-midline-carcinoma-an-aggressive-and-fatal-disease
#7
Anja Stirnweiss, Joyce Oommen, Rishi S Kotecha, Ursula R Kees, Alex H Beesley
NUT midline carcinoma (NMC) is a rare and aggressive cancer, with survival typically less than seven months, that can arise in people of any age. Genetically, NMC is defined by the chromosomal fusion of NUTM1 with a chromatin-binding partner, typically the bromodomain-containing protein BRD4. However, little is known about other genetic aberrations in this disease. In this study, we used a unique panel of cell lines to describe the molecular-genetic features of NMC. Next-generation sequencing identified a recurring high-impact mutation in the DNA-helicase gene RECQL5 in 75% of lines studied, and biological signals from mutation-signature and network analyses consistent with a general failure in DNA-repair...
December 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29348298/a-review-of-prostate-cancer-genome-wide-association-studies-gwas
#8
Sarah Benafif, Zsofia Kote-Jarai, Rosalind A Eeles
Prostate cancer (PrCa) is the commonest cancer in men in Europe and the USA. The genetic heritability of PrCa is contributed to by both rarely occurring genetic variants with higher penetrance and moderate to commonly occurring variants conferring lower risks. The number of identified variants belonging to the latter category has increased dramatically in the last 10 years with the development of the genome wide association study (GWAS) and the collaboration of international consortia that have led to the sharing of large-scale genotyping data...
January 18, 2018: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/29348297/changes-in-macrophage-transcriptome-associate-with-systemic-sclerosis-and-mediate-gsdma-contribution-to-disease-risk
#9
Aida Moreno-Moral, Marta Bagnati, Surya Koturan, Jeong-Hun Ko, Carmen Fonseca, Nathan Harmston, Laurence Game, Javier Martin, Voon Ong, David J Abraham, Christopher P Denton, Jacques Behmoaras, Enrico Petretto
OBJECTIVES: Several common and rare risk variants have been reported for systemic sclerosis (SSc), but the effector cell(s) mediating the function of these genetic variants remains to be elucidated. While innate immune cells have been proposed as the critical targets to interfere with the disease process underlying SSc, no studies have comprehensively established their effector role. Here we investigated the contribution of monocyte-derived macrophages (MDMs) in mediating genetic susceptibility to SSc...
January 17, 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29348285/vancomycin-induced-coronary-artery-spasm-a-case-of-kounis-syndrome
#10
Eric Martinez, Sonu Sahni, Muhammad Ai Cheema, Asma Iftikhar
Kounis syndrome defined as the appearance of acute coronary syndrome in the context of an allergic reaction is a relatively rare phenomenon. There are three variants of this syndrome in which the patient presents with symptoms of an acute chest. Herein, we describe a case of an 83-year-old woman who demonstrated type I variant of Kounis syndrome in response to vancomycin administration. After initialisation of vancomycin, she became unresponsive and an ECG demonstrated ST changes consistent with inferior-lateral myocardial infarction...
January 17, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29347989/bal%C3%A3-s-concentric-sclerosis-is-immunologically-distinct-from-multiple-sclerosis-results-from-retrospective-analysis-of-almost-150-lumbar-punctures
#11
S Jarius, C Würthwein, J R Behrens, J Wanner, J Haas, F Paul, B Wildemann
BACKGROUND: Baló's concentric sclerosis (BCS) is a rare inflammatory demyelinating disorder of the central nervous system characterised by concentric layers of demyelination. It is unclear whether BCS is a variant of multiple sclerosis (MS) or a disease entity in its own right. OBJECTIVE: To compare the cerebrospinal fluid (CSF) features of BCS to those of MS. METHODS: Retrospective analysis of the CSF profile of all patients with BCS reported in the medical literature between 1980 and 2017...
January 18, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29346781/laparoscopic-nephron-sparing-calycectomy-for-treating-fraley-s-syndrome
#12
Francesco Porpiglia, Riccardo Bertolo, Enrico Checcucci, Daniele Amparore, Matteo Manfredi, Cristian Fiori
Background/Aims/Objectives: Various nephron-sparing approaches were described as part of surgical management for Fraley's syndrome, a rare anatomic variant of the renal vascular anatomy that compresses the upper pole infundibulum resulting in an upper calyceal obstruction and dilatation, with symptoms of flank pain and hematuria. To date, descriptions of minimally invasive correction techniques are anecdotal. METHODS: A retroperitoneal pure laparoscopic approach using the nephron-sparing technique was chosen in the presented case...
January 18, 2018: Urologia Internationalis
https://www.readbyqxmd.com/read/29346710/an-extensive-caseous-calcification-of-the-mitral-annulus-complicated-with-severe-mitral-regurgitation
#13
Alper Karakus, Hakan Tibilli, Ibrahim H Inanc, Hakan Tasolar, Serdar Turkmen, Erdal Akturk
Caseous calcification of the mitral annulus (CCMA) is considered a rare variant of mitral annular calcification (MAC) due to caseous transformation of the inner material and prevalence of CCMA, about 0.63% of all MAC cases and 0.06%-0.07% of the population. The precise pathophysiology of CCMA is still unknown. It is a chronic degenerative disorder common in the elderly, particularly in women. Caseous calcification of the mitral annulus (CCMA) is a soft peri-annular extensive calcification, resembling cardiac tumors, abscesses, vegetation, or calcified thrombus, which is composed of an admixture of calcium, fatty acids, and cholesterol with a toothpaste-like texture...
January 18, 2018: Echocardiography
https://www.readbyqxmd.com/read/29346284/double-heterozygosity-for-brca1-pathogenic-variant-and-brca2-polymorphic-stop-codon-k3326x-a-case-report-in-a-southern-italian-family
#14
Raffaele Palmirotta, Domenica Lovero, Luigia Stefania Stucci, Erica Silvestris, Davide Quaresmini, Angela Cardascia, Franco Silvestris
Here, we describe a patient with bilateral breast cancer and melanoma, and with a concomitant double variant, namely p.Gln563Ter in BRCA1 and p.Lys3326Ter in BRCA2. The BRCA2 p.Lys3326Ter (K3326X) (rs11571833) mutation identified in our patient is a debated substitution of thymidine for adenine which is currently regarded as benign polymorphism in main gene databases. Recent studies, however, describe this variant as associated with breast and ovarian tumors. Based on the observation of the cancer's earliest age of onset in this subject, our purpose was to reevaluate this variant according to recent papers indicating a role of powerful modifier of the genetic penetrance...
January 18, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29345978/research-in-rare-disease-from-genomics-to-proteomics
#15
Jessica Lacoste
Jessica Lacoste from the Donnelly Centre at the University of Toronto was awarded best poster at the annual Society of Biomolecular Imaging and Informatics meeting held in San Diego, September 2017. Her work focuses on characterizing the protein localization of variants involved in rare disease. The current works and future directions of research in rare disease are summarized in the following overview.
January 2018: Assay and Drug Development Technologies
https://www.readbyqxmd.com/read/29344999/the-newer-classifications-of-the-chiari-malformations-with-clarifications-an-anatomical-review
#16
Fatima Azahraa Haddad, Ibraheem Qaisi, Nagham Joudeh, Hamada Dajani, Fareed Jumah, Amjad Elmashala, Nimer Adeeb, Joshua J Chern, R Shane Tubbs
In 1891 Hans Chiari described a group of congenital hindbrain anomalies, which were eventually named after him. He classified these malformations into three types (Chiari malformations I, II, and III), and four years later added the Chiari IV malformation. However, numerous reports across the literature do not seem to fit Chiari's original descriptions of these malformations, so researchers have been encouraged to propose new classifications to encompass these variants (e.g., Chiari 0, Chiari1.5, and Chiari 3...
January 18, 2018: Clinical Anatomy
https://www.readbyqxmd.com/read/29344653/a-novel-variant-of-osteogenesis-imperfecta-type-iv-and-low-serum-phosphorus-level-caused-by-a-val94asp-mutation-in-col1a1
#17
Qi Yang, Hong Xu, Jinsi Luo, Qinle Zhang, Bobo Xie, Sheng Yi, Xiuliang Rong, Jin Wang, Zailong Qin, Tingting Jiang, Li Lin, Yangjin Zuo, Xin Fan
Osteogenesis imperfecta (OI) is a rare congenital disorder characterized by bone fragility and fractures, and associated with bone deformity, short stature, dentin, ligament and blue‑gray eye sclera. OI is caused by a heterozygous mutation in collagen α‑1(I) chain (COL1A1) or collagen α‑2(I) chain (COL1A2) genes that encode α chains of type I collagen. Collagen α chain peptide contains an N‑propeptide, which has a role in assembly and processing of collagen. Point mutations in the N‑propeptide domain appear to trigger OI...
January 16, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29344064/occult-acute-macular-neuroretinopathy
#18
Michael S Vaphiades, Brendan Grondines
A 19-year-old Caucasian woman developed an upper respiratory infection, took a cold formulation containing 5 mg of phenylephrine, and developed a very rare and unusual form of acute macular neuroretinopathy (AMN) that could not be detected on fundoscopic examination, visual fields, nor electrophysiological testing. Spectral-domain optical coherence tomography (SD-OCT) revealed a lesion limited to the fovea. This case illustrates the value of SD-OCT, in light of otherwise normal testing, in a variant of AMN the authors call "occult AMN"...
August 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29343940/prescreening-whole-exome-sequencing-results-from-patients-with-retinal-degeneration-for-variants-in-genes-associated-with-retinal-degeneration
#19
Laura Bryant, Olga Lozynska, Albert M Maguire, Tomas S Aleman, Jean Bennett
Background: Accurate clinical diagnosis and prognosis of retinal degeneration can be aided by the identification of the disease-causing genetic variant. It can confirm the clinical diagnosis as well as inform the clinician of the risk for potential involvement of other organs such as kidneys. It also aids in genetic counseling for affected individuals who want to have a child. Finally, knowledge of disease-causing variants informs laboratory investigators involved in translational research...
2018: Clinical Ophthalmology
https://www.readbyqxmd.com/read/29343803/targeted-next-generation-sequencing-in-a-young-population-with-suspected-inherited-malignant-cardiac-arrhythmias
#20
Anders Krogh Broendberg, Morten Krogh Christiansen, Jens Cosedis Nielsen, Lisbeth Noerum Pedersen, Henrik Kjaerulf Jensen
Aborted sudden cardiac death in the young often is due to inherited heart disease. However, the clinical phenotype in these patients is not always evident. The aim of this study was to identify pathogenic molecular genetic variants in a population with suspected inherited cardiac arrhythmias. Eligible patients were admitted to Aarhus University Hospital, Denmark during the period 1999-2013 with arrhythmias assumed caused by a hereditary heart disease, and in whom no genotype had been established. We used the Danish national pacemaker and ICD registry to identify this cohort...
January 17, 2018: European Journal of Human Genetics: EJHG
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