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https://www.readbyqxmd.com/read/28239999/glioblastoma-multiforme-a-review-of-its-epidemiology-and-pathogenesis-through-clinical-presentation-and-treatment
#1
Farina Hanif, Kanza Muzaffar, Kahkashan Perveen, Saima M Malhi, Shabana U Simjee
Glioblastoma multiforme (GBM) is one of the most malignant types of central nervous system tumors. Despite advances in treatment modalities it remains largely incurable. The objective of our review is to provide a holistic picture of GBM epidemiology, etiology, pathogenesis, clinical findings and treatment. A literature search was conducted for GBM at PubMed and Google Scholar, with relevant key words like glioblastoma multiforme, pathogenesis, signs and symptoms, treatment etc., and papers published until 2015 were reviewed...
1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28239886/fibrocartilaginous-mesenchymoma-of-bone-a-single-institution-experience-with-molecular-investigations-and-a-review-of-the-literature
#2
M Gambarotti, A Righi, D Vanel, S Cocchi, S Benini, F M Elli, G Mantovani, P Ruggieri, S Boriani, D Donati, M Sbaraglia, A P Dei Tos, P Picci
AIMS: Fibrocartilaginous mesenchymoma is a rare intraosseous lesion with a total of 25 cases described in the literature. This study describes the clinical, radiological, and histological features of eight new cases of fibrocartilaginous mesenchymoma collected at a single institution between 1982 and 2016. The presence of GNAS and IDH1/2 mutations and MDM2 amplification was explored to evaluate possible links between fibrocartilaginous mesenchymoma, fibrous dysplasia, dedifferentiated chondrosarcoma, and low-grade osteosarcoma...
February 26, 2017: Histopathology
https://www.readbyqxmd.com/read/28238272/psychiatric-presentations-of-c9orf72-mutation-what-are-the-diagnostic-implications-for-clinicians
#3
Simon Ducharme, Sepideh Bajestan, Bradford C Dickerson, Valerie Voon
The C9orf72 mutation was identified as the most frequent genetic cause of frontotemporal dementia (FTD). In light of multiple reports of predominant psychiatric presentations of FTD secondary to C9orf72 mutation, the American Neuropsychiatric Association Committee on Research reviewed all studies on psychiatric aspects of this mutation to identify clinically relevant features for diagnosis. The most common psychiatric presentation is psychosis (21%-56%), with delusions, and/or multimodal hallucinations. Other presentations include late-onset mania and depression with cognitive impairment or catatonia...
February 27, 2017: Journal of Neuropsychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28238060/novel-biotechnology-approaches-in-colorectal-cancer-diagnosis-and-therapy
#4
REVIEW
Soudabeh Kavousipour, Fathemeh Khademi, Mozhdeh Zamani, Bahareh Vakili, Pooneh Mokarram
With ever-increasing molecular information about colorectal cancer (CRC), there is an expectation to detect more sensitive and specific molecular markers for new advanced diagnostic methods that can surpass the limitations of current screening tests. Moreover, enhanced molecular pathology knowledge about cancer has led to the development of targeted therapies, designed to interfere with specific aberrant biological pathways in cancer. Furthermore, biotechnology has opened a new window in CRC diagnosis and treatment by introducing different application of antibodies, antibody fragments, non-Ig scaffold proteins, and aptamers in targeted therapy and drug delivery...
February 25, 2017: Biotechnology Letters
https://www.readbyqxmd.com/read/28238028/prepotent-response-inhibition-and-reaction-times-in-children-with-attention-deficit-hyperactivity-disorder-from-a-caribbean-community
#5
Giomar Jiménez-Figueroa, Carlos Ardila-Duarte, David A Pineda, Johan E Acosta-López, Martha L Cervantes-Henríquez, Wilmar Pineda-Alhucema, Jeimys Cervantes-Gutiérrez, Marisol Quintero-Ibarra, Manuel Sánchez-Rojas, Jorge I Vélez, Pedro J Puentes-Rozo
Impairment in inhibitory control has been postulated as an underlying hallmark of attention deficit/hyperactivity disorder (ADHD), which can be utilized as a quantitative trait for genetic studies. Here, we evaluate whether inhibitory control, measured by simple automatized prepotent response (PR) inhibition variables, is a robust discriminant function for the diagnosis of ADHD in children and can be used as an endophenotype for future genetic studies. One hundred fifty-two school children (30.9% female, 67...
February 25, 2017: Attention Deficit and Hyperactivity Disorders
https://www.readbyqxmd.com/read/28237281/hereditary-renal-tumor-syndromes-update-on-diagnosis-and-management
#6
Sonia Gaur, Baris Turkbey, Peter Choyke
Hereditary renal cancers account for approximately 5%-8% of all renal tumors. Over the past 2 decades, a number of syndromes have been identified that predispose patients to early renal cancer development, representing all the major histologic types of tumor pathology. In this article, we describe the current knowledge concerning the cell type, known mechanism of tumor development, other manifestations of the syndrome, imaging findings, genetic screening, and imaging surveillance recommendations for each of the major syndromes associated with hereditary renal cancers...
February 2017: Seminars in Ultrasound, CT, and MR
https://www.readbyqxmd.com/read/28236585/the-importance-of-genetic-counseling-and-genetic-screening-a-case-report-of-a-16-year-old-boy-with-resistant-hypertension-and-severe-hypokalemia
#7
Ze-Min Kuang, Ying Wang, Jia-Jie Wang, Jing-Hua Liu, Rong Zeng, Qi Zhou, Zhen-Qiu Yu, Long Jiang
Liddle's syndrome, an autosomal dominant form of monogenic hypertension, is characterized by salt-sensitive hypertension with early penetrance, hypokalemia, metabolic alkalosis, suppression of plasma rennin activity and aldosterone secretion, and a clear-cut response to epithelial sodium channel blockers but not spironolactone therapy. Here, we describe the case of a 16-year-old boy patient with resistant hypertension (maintain 170-180/100-110 mm Hg after administration four kinds of antiypertensive drugs) and severe hypokalemia...
February 3, 2017: Journal of the American Society of Hypertension: JASH
https://www.readbyqxmd.com/read/28236526/-atypical-atypical-parkinsonism-critical-appraisal-of-a-cohort
#8
Stephanie T Hirschbichler, Roberto Erro, Christos Ganos, Maria Stamelou, Amit Batla, Bettina Balint, Kailash P Bhatia
BACKGROUND: Atypical parkinsonian conditions such as multiple system atrophy (MSA), progressive supranuclear palsy (PSP), corticobasal syndrome (CBS) and Dementia with Lewy bodies (DLB) comprise 10-15% of parkinsonian syndromes. Misdiagnosis with Parkinson disease (PD) and within the entities is common, given the absence of reliable biomarkers. However a correct diagnosis is not only important in clinical practice, but also crucial for any trial attempting to identify biomarkers or new treatments...
December 14, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28236343/tarseqqc-quality-control-on-targeted-sequencing-experiments-in-r
#9
Gabriela A Merino, Yanina A Murua, Cristóbal Fresno, Juan M Sendoya, Mariano Golubicki, Soledad Iseas, Mariana Coraglio, Osvaldo L Podhajcer, Andrea S Llera, Elmer A Fernández
Targeted sequencing is growing as a screening methodology used in research and medical genetics to identify genomic alterations causing human diseases. In general, a list of possible genomic variants is derived from mapped reads through a variant calling step. This processing step is usually based on variant coverage, although it may be affected by several factors. Therefore, under-covered relevant clinical variants may not be reported, impacting on pathology diagnosis or treatment. Thus, a prior quality control of the experiment is critical to determine variant detection accuracy and to avoid erroneous medical conclusions...
February 24, 2017: Human Mutation
https://www.readbyqxmd.com/read/28236115/the-clinicopathological-features-of-liponeurocytoma
#10
Li Xu, Jiang Du, Junmei Wang, Jingyi Fang, Zhaoxia Liu, Yanjiao He, Guilin Li
To discuss the clinicopathological features of liponeurocytoma, we retrospectively reviewed three liponeurocytoma cases and compared their immunophenotypes and genotypes with those of similar tumors. Furthermore, we reviewed the literature and compared the similarities and differences between cerebellar and intraventricular liponeurocytomas. Two cerebellar and one intraventricular liponeurocytomas were included in the present study. The liponeurocytomas comprised small tumor cells and lipomatous cells. The tumor cells expressed SYN, MAP-2, and NeuN...
February 24, 2017: Brain Tumor Pathology
https://www.readbyqxmd.com/read/28235811/fast-multiple-sclerosis-progression-in-north-africans-both-genetics-and-environment-matter
#11
Youssef Sidhom, Elisabeth Maillart, Sophie Tezenas du Montcel, Imen Kacem, Catherine Lubetzki, Riadh Gouider, Caroline Papeix
OBJECTIVE: To compare multiple sclerosis (MS) disability progression among North Africans (NAs) living in France (NAF) and in Tunisia (NAT) and Caucasian patients born and living in France (CF). METHODS: Patients with MS admitted to the day hospital in the Neurology Department at Pitié-Salpêtrière Hospital (France) and Razi Hospital (Tunisia) were questioned on their place of birth and the place of birth of their parents. To compare delay to outcomes, log-rank tests were used...
February 24, 2017: Neurology
https://www.readbyqxmd.com/read/28235710/the-genetic-spectrum-of-familial-hypercholesterolemia-in-the-central-south-region-of-china
#12
Rong Xiang, Liang-Liang Fan, Min-Jie Lin, Jing-Jing Li, Xiang-Yu Shi, Jie-Yuan Jin, Yu-Xing Liu, Ya-Qin Chen, Kun Xia, Shui-Ping Zhao
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is the most common and severe autosomal dominant lipid metabolism dysfunction, which causes xanthoma, atherosclerosis and coronary heart disease. Earlier studies showed that mutations in LDLR, APOB and PCSK9 cause FH. Although more than 75% of the population in Europe has been scrutinized for FH-causing mutations, the genetic diagnosis proportion among Chinese people remains very low (less than 0.5%). The aim of this study was to perform a survey and mutation detection among the Chinese population...
February 11, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28235680/apoe-%C3%AE%C2%B54-status-is-associated-with-white-matter-hyperintensities-volume-accumulation-rate-independent-of-ad-diagnosis
#13
Carole H Sudre, M Jorge Cardoso, Chris Frost, Josephine Barnes, Frederik Barkhof, Nick Fox, Sébastien Ourselin
To assess the relationship between carriage of APOE ε4 allele and evolution of white matter hyperintensities (WMHs) volume, we longitudinally studied 339 subjects from the Alzheimer's Disease Neuroimaging Initiative cohort with diagnoses ranging from normal controls to probable Alzheimer's disease (AD). A purpose-built longitudinal automatic method was used to segment WMH using constraints derived from an atlas-based model selection applied to a time-averaged image. Linear mixed models were used to evaluate the differences in rate of change across diagnosis and genetic groups...
January 26, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28235659/suspected-non-alzheimer-s-pathology-is-it-non-alzheimer-s-or-non-amyloid
#14
REVIEW
M Dani, D J Brooks, P Edison
Neurodegeneration, the progressive loss of neurons, is a major process involved in dementia and age-related cognitive impairment. It can be detected clinically using currently available biomarker tests. Suspected Non Alzheimer Pathology (SNAP) is a biomarker-based concept that encompasses a group of individuals with neurodegeneration, but no evidence of amyloid deposition (thereby distinguishing it from Alzheimer's disease (AD)). These individuals may often have a clinical diagnosis of AD, but their clinical features, genetic susceptibility and progression can differ significantly, carrying crucial implications for precise diagnostics, clinical management, and efficacy of clinical drug trials...
February 21, 2017: Ageing Research Reviews
https://www.readbyqxmd.com/read/28235629/primary-extraskeletal-osteosarcoma-a-clinicopathological-study-of-18-cases-focusing-on-mdm2-amplification-status
#15
Kyoko Yamashita, Kenichi Kohashi, Yuichi Yamada, Yoshihiro Nishida, Hiroshi Urakawa, Yoshinao Oda, Shinya Toyokuni
Extraskeletal osteosarcoma (ESOS) is an uncommon malignant neoplasm. Most ESOSs are high grade, although some low-grade cases have been reported. A few cases of ESOS with MDM2 amplification have also been reported, suggesting some similarity to skeletal low-grade osteosarcoma such as parosteal osteosarcoma, where MDM2 is often amplified. However, the frequency of low-grade cases and cases with MDM2 amplification among ESOSs remains unknown and their relationship is unclear. To clarify this, we examined 18 primary ESOS cases clinically, pathologically, and genetically, focusing on their MDM2 amplification status...
February 21, 2017: Human Pathology
https://www.readbyqxmd.com/read/28235465/ovarian-reserve-testing-a-user-s-guide
#16
REVIEW
Reshef Tal, David B Seifer
Ovarian reserve is a complex clinical phenomenon that is influenced by age, genetics and environmental variables. Although it is challenging to predict the rate of an individual's ovarian reserve decline, clinicians are often asked for advice about fertility potential and/or recommendations regarding the pursuit of fertility treatment options. The purpose of this review is to summarize the state-of-the-art of ovarian reserve testing (ORT), providing a guide for the Ob/Gyn generalist and reproductive endocrinologist...
February 21, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28235399/case-report-of-an-atypical-early-onset-x-linked-retinoschisis-in-monozygotic-twins
#17
Vittoria Murro, Roberto Caputo, Giacomo Maria Bacci, Andrea Sodi, Dario Pasquale Mucciolo, Sara Bargiacchi, Sabrina Rita Giglio, Gianni Virgili, Stanislao Rizzo
BACKGROUND: X-linked Retinoschisis (XLRS) is one of the most common macular degenerations in young males, with a worldwide prevalence ranging from 1:5000 to 1:20000. Clinical diagnosis of XLRS can be challenging due to the highly variable phenotypic presentation and limited correlation has been identified between mutation type and disease severity or progression. CASE PRESENTATION: We report the atypical early onset of XLRS in 3-month-old monozygotic twins. Fundus examination was characterized by severe bullous retinal schisis with pre-retinal and intraretinal haemorrhages...
February 24, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28231377/evidence-based-s3-guidelines-for-diagnostics-and-treatment-of-venous-leg-ulcers-answer-to-dr-bertolini
#18
Martino Neumann
The differential diagnosis of a leg ulcer is broad with a great variety of diseases. Beside the well known as venous, arterial, mixed and diabetic most are rare. Prolidase deficiency is one of the rare causes.Nether the less it is an excellent suggestion to add also genetic diseases as prolidae deficiency to this Guideline. The committee will take this for the next revision.Martino Neumann, on behalf of the redaction of the EADF Guideline Diagnosis and Treatment of Venous Leg Ulcers This article is protected by copyright...
February 23, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28231309/improving-molecular-diagnosis-of-aniridia-and-wagr-syndrome-using-customized-targeted-array-based-cgh
#19
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Here, we report the development and validation of a customized targeted array-based comparative genomic hybridization, so called WAGR-array, for comprehensive high-resolution analysis of CNV in the WAGR locus...
2017: PloS One
https://www.readbyqxmd.com/read/28231257/targeted-sequencing-identifies-a-novel-sh2d1a-pathogenic-variant-in-a-chinese-family-carrier-screening-and-prenatal-genetic-testing
#20
Jun-Yu Zhang, Song-Chang Chen, Yi-Yao Chen, Shu-Yuan Li, Lan-Lan Zhang, Ying-Hua Shen, Chun-Xin Chang, Yu-Qian Xiang, He-Feng Huang, Chen-Ming Xu
X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened for pathogenic variant because the proband sample was unavailable. We aimed to clarify the genetic diagnosis and provide prenatal testing for the family...
2017: PloS One
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