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https://www.readbyqxmd.com/read/29228435/review-of-recent-advances-in-the-management-of-hypertrophic-cardiomyopathy
#1
Y Cao, P-Y Zhang
Hypertrophic cardiomyopathy (HCM) is a complex but common monogenic cardiovascular disorder characterized by unexplained non dilated left ventricular (LV) thickening in the absence of another cardiac or systemic disease. The condition is associated with sudden and unexpected death in young individuals including trained athletes. HCM represents a genetic disorder caused by mutations in genes encoding sarcomeric proteins of the cardiac myocyte. This review article discusses the genetics behind HCM, its clinical presentation, and diagnosis and the present-day pharmacological management of HCM...
November 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29228305/familial-cancer-clustering-in-urothelial-cancer-a-population-based-case-control-study
#2
Christopher Martin, Claire L Leiser, Brock O'Neil, Sumati Gupta, William T Lowrance, Wendy Kohlmann, Samantha Greenberg, Piyush Pathak, Ken R Smith, Heidi A Hanson
Background: Family history of bladder cancer confers an increased risk for concordant and discordant cancers in relatives. However, previous studies investigating this relationship lack any correction for smoking status of family members. We conducted a population-based study of cancer risks in relatives of bladder cancer patients and matched controls with exclusion of variant subtypes to improve the understanding of familial cancer clustering. Methods: Case subjects with urothelial carcinoma were identified using the Utah Cancer Registry and matched 1:5 to cancer-free controls from the Utah Population Database...
December 8, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29228280/new-intronic-fibroblast-growth-factor-receptor-1-fgfr1-mutation-leading-to-disrupted-splicing-and-kallmann-syndrome
#3
J Känsäkoski, K Vaaralahti, T Raivio
Congenital hypogonadotropic hypogonadism (CHH), which can present with a defective sense of smell (Kallmann syndrome, KS), is a clinically and genetically heterogeneous disorder. Over 31 genes have been associated with CHH, but most of the patients still lack a molecular genetic diagnosis. Some cases may be explained by mutations that disrupt the splicing of already established CHH genes but that are unrecognized either because they are located deep in introns or are not predicted to disrupt splicing. Here we identified a patient with a previously unreported Fibroblast Growth Factor Receptor 1 (FGFR1) mutation, c...
December 8, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29228183/plasma-oxysterols-biomarkers-for-diagnosis-and-treatment-in-spastic-paraplegia-type-5
#4
Cecilia Marelli, Foudil Lamari, Dominique Rainteau, Alexandre Lafourcade, Guillaume Banneau, Lydie Humbert, Marie-Lorraine Monin, Elodie Petit, Rabab Debs, Giovanni Castelnovo, Elisabeth Ollagnon, Julie Lavie, Julie Pilliod, Isabelle Coupry, Patrick J Babin, Claire Guissart, Imen Benyounes, Urielle Ullmann, Gaetan Lesca, Christel Thauvin-Robinet, Pierre Labauge, Sylvie Odent, Claire Ewenczyk, Claude Wolf, Giovanni Stevanin, David Hajage, Alexandra Durr, Cyril Goizet, Fanny Mochel
The hereditary spastic paraplegias are an expanding and heterogeneous group of disorders characterized by spasticity in the lower limbs. Plasma biomarkers are needed to guide the genetic testing of spastic paraplegia. Spastic paraplegia type 5 (SPG5) is an autosomal recessive spastic paraplegia due to mutations in CYP7B1, which encodes a cytochrome P450 7α-hydroxylase implicated in cholesterol and bile acids metabolism. We developed a method based on ultra-performance liquid chromatography electrospray tandem mass spectrometry to validate two plasma 25-hydroxycholesterol (25-OHC) and 27-hydroxycholesterol (27-OHC) as diagnostic biomarkers in a cohort of 21 patients with SPG5...
December 8, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29228164/liver-fat-content-non-alcoholic-fatty-liver-disease-and-ischaemic-heart-disease-mendelian-randomization-and-meta-analysis-of-279%C3%A2-013-individuals
#5
Bo Kobberø Lauridsen, Stefan Stender, Thomas Skårup Kristensen, Klaus Fuglsang Kofoed, Lars Køber, Børge G Nordestgaard, Anne Tybjærg-Hansen
Aims: In observational studies, non-alcoholic fatty liver disease (NAFLD) is associated with high risk of ischaemic heart disease (IHD). We tested the hypothesis that a high liver fat content or a diagnosis of NAFLD is a causal risk factor for IHD. Methods and results: In a cohort study of the Danish general population (n = 94 708/IHD = 10 897), we first tested whether a high liver fat content or a diagnosis of NAFLD was associated observationally with IHD...
December 8, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29227860/respiratory-syncytial-virus-in-brazilian-infants-ten-years-two-cohorts
#6
Elinara Wollmeister, Alfonso Eduardo Alvarez, Juliana Cristina Santiago Bastos, Fernando Augusto Lima Marson, José Dirceu Ribeiro, Emílio Carlos Elias Baracat, Clarice Weis Arns, Adriana Gut Lopes Riccetto
BACKGROUND: Each year, a considerable amount of children will experience at least one episode of acute viral bronchiolitis (AVB) during their first year of life. About 10% of them will be hospitalized, with significant physical and economic burdens. OBJECTIVES: To compare two cohorts of infants with AVB, from same region, in a ten-year interval, regarding epidemiologic factors and viral etiology. STUDY DESIGN: Cohorts: 142 (2004) and 172 (2014) infants at ages zero to 12 months; clinical diagnosis of AVB; medical care in hospital and genetic screening of nasopharyngeal secretion for respiratory viruses...
December 6, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/29227332/recent-advances-in-the-diagnosis-of-malignant-mesothelioma-focus-on-approach-in-challenging-cases-and-in-limited-tissue-and-cytologic-samples
#7
Sara Monaco, Mitra Mehrad, Sanja Dacic
Mesothelial proliferations can be diagnostically challenging in small specimens, such as body fluid cytology and small tissue biopsies. A great morphologic challenge for pathologists is the separation of benign reactive mesothelial proliferations from malignant mesotheliomas. Reactive mesothelial proliferations may have histologic features that resemble malignancy including increased cellularity, cytologic atypia, and mitoses. Recent advances in mesothelioma genetics resulted in identification of BAP1 mutations and p16 deletions as features of malignant mesotheliomas...
January 2018: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/29226869/the-heritability-of-frontotemporal-lobar-degeneration-validation-of-pedigree-classification-criteria-in-a-northern-italy-cohort
#8
Silvia Fostinelli, Miriam Ciani, Roberta Zanardini, Orazio Zanetti, Giuliano Binetti, Roberta Ghidoni, Luisa Benussi
A large portion of frontotemporal lobar degeneration (FTLD) patients has a family history of disease and the presence of a pathogenic mutation confirms the clinical diagnosis. Recently, standardized criteria to evaluate FTLD pedigree, based on first- and second-degree affected relatives, their age at onset, and clinical phenotype, were proposed and validated in an American cohort. Herein we applied these criteria to 402 Italian FTLD pedigrees and assessed mutation frequencies in GRN, C9orf72, and MAPT genes with the aim of validating these criteria...
December 8, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29226639/early-diagnosis-of-oral-squamous-cell-carcinoma-by-salivary-micrornas
#9
REVIEW
Raluca Dumache
BACKGROUND: Oral squamous cell carcinoma (OSCC), the most common type of oral cancer, and represents more than 90% of malignancies of the oral cavity. Worldwide, each year about 275,000 are newly diagnosed. If detected at an early stage, OSCC has a survival rate of up to 80% compared to the detection in later stages (T3-T4) when a survival rate of 20 - 30% is present. METHODS: Because OSCC presents these survival rates, there is an urgent need to introduce new non-invasive molecular biomarkers for the early detection of OSCC from saliva, which will contribute to an increased long term survival rate for these patients...
November 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/29226580/a-novel-truncating-variant-within-exon-7-of-kat6b-associated-with-features-of-both-say-barber-bieseker-young-simpson-syndrome-and-genitopatellar-syndrome-further-evidence-of-a-continuum-in-the-clinical-spectrum-of-kat6b-related-disorders
#10
Giuseppe Marangi, Marilena C Di Giacomo, Serena Lattante, Daniela Orteschi, Sara Patrizi, Paolo N Doronzio, Francesco N Riviello, Alessandro Vaisfeld, Silvia Frangella, Marcella Zollino
KAT6B sequence variants have been identified in both patients with the Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and in the genitopatellar syndrome (GPS). In SBBYSS, they were reported to affect mostly exons 16-18 of KAT6B, and the predicted mechanism of pathogenesis was haploinsufficiency or a partial loss of protein function. Truncating variants in KAT6B leading to GPS appear to cluster within the proximal portion of exon 18, associated with a dominant-negative effect of the mutated protein, most likely...
December 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29226425/intraventricular-melanocytoma-diagnosis-confirmed-by-gene-mutation-profile
#11
Ulrich J Knappe, Iris Tischoff, Andrea Tannapfel, Wolf-Dieter Reinbold, Inga Möller, Antje Sucker, Dirk Schadendorf, Klaus G Griewank, Johannes A P van de Nes
Primary leptomeningeal melanocytic tumors (PLMTs) are rare. They usually arise along the spinal cord and at the skull base. Here we report on a patient with a very rare intraventricular melanocytoma. Histologically, a melanocytic tumor was clearly diagnosed. However, to make the uncommon diagnosis of an intraventricular melanocytoma, metastatic melanoma needed to be excluded. Next generation sequencing covering gene mutations that may occur in PLMTs and cutaneous melanoma was performed. The unique gene mutation profile detected, consisting of an activating CYSLTR2 L129Q mutation and EIF1AX G9R mutation and a lack of mutations in genes known to occur in metastatic melanoma (i...
December 11, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29226107/cholangitis-diagnosis-treatment-and-prognosis
#12
REVIEW
Amir Houshang Mohammad Alizadeh
Cholangitis is a serious life-threatening situation affecting the hepatobiliary system. This review provides an update regarding the clinical and pathological features of various forms of cholangitis. A comprehensive search was performed in the PubMed, Scopus, and Web of Knowledge databases. It was found that the etiology and pathogenesis of cholangitis are heterogeneous. Cholangitis can be categorized as primary sclerosing (PSC), secondary (acute) cholangitis, and a recently characterized form, known as IgG4-associated cholangitis (IAC)...
December 28, 2017: Journal of Clinical and Translational Hepatology
https://www.readbyqxmd.com/read/29226105/non-alcoholic-fatty-liver-disease-a-clinical-update
#13
REVIEW
Joseph M Pappachan, Shithu Babu, Babu Krishnan, Nishal C Ravindran
Non-alcoholic fatty liver disease (NAFLD) is currently the most common chronic liver disease in developed countries because of the obesity epidemic. The disease increases liver-related morbidity and mortality, and often increases the risk for other comorbidities, such as type 2 diabetes and cardiovascular disease. Insulin resistance related to metabolic syndrome is the main pathogenic trigger that, in association with adverse genetic, humoral, hormonal and lifestyle factors, precipitates development of NAFLD...
December 28, 2017: Journal of Clinical and Translational Hepatology
https://www.readbyqxmd.com/read/29226095/atypical-hemolytic-uremic-syndrome-due-to-complement-factor-i-mutation
#14
Abdullah H Almalki, Laila F Sadagah, Mohammed Qureshi, Hatim Maghrabi, Abdulrahman Algain, Ahmed Alsaeed
Atypical hemolytic-uremic syndrome (aHUS) is a rare disease of complement dysregulation leading to thrombotic microangiopathy (TMA). Renal involvement and progression to end-stage renal disease are common in untreated patients. We report a 52-year-old female patient who presented with severe acute kidney injury, microangiopathic hemolytic anemia, and thrombocytopenia. She was managed with steroid, plasma exchange, and dialysis. Kidney biopsy shows TMA and renal cortical necrosis. Genetic analysis reveals heterozygous complement factor I (CFI) mutation...
November 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/29225908/an-unusual-presentation-of-tyrosine-hydroxylase-deficiency
#15
Linn E Katus, Steven J Frucht
Background: Dopa-responsive dystonia (DRD) has largely been associated with autosomal dominant mutations in the GCH1 gene leading to GTP cyclohydrolase 1 deficiency. More recently, a deficiency in tyrosine hydroxylase (TH) has been recognized to cause DRD. This is a rare disorder resulting from genetic mutations in the TH gene on chromosome 11. The phenotype ranges from DRD with complete resolution on levodopa to infantile parkinsonism and encephalopathy only partially responsive to levodopa...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/29225784/diagnosing-alpha-1-antitrypsin-deficiency-the-first-step-in-precision-medicine
#16
REVIEW
Craig P Hersh
Severe alpha-1 antitrypsin (AAT) deficiency is one of the most common serious genetic diseases in adults of European descent. Individuals with AAT deficiency have a greatly increased risk for emphysema and liver disease. Other manifestations include bronchiectasis, necrotizing panniculitis and granulomatosis with polyangiitis. Despite the frequency and potential severity, AAT deficiency remains under-recognized, and there is often a delay in diagnosis. This review will focus on three recent updates that should serve to encourage testing and diagnosis of AAT deficiency: first, the publication of a randomized clinical trial demonstrating the efficacy of intravenous augmentation therapy in slowing the progression of emphysema in AAT deficiency; second, the mounting evidence showing an increased risk of lung disease in heterozygous PI MZ genotype carriers; last, the recent publication of a clinical practice guideline, outlining diagnosis and management...
2017: F1000Research
https://www.readbyqxmd.com/read/29225335/genetic-architecture-the-shape-of-the-genetic-contribution-to-human-traits-and-disease
#17
REVIEW
Nicholas J Timpson, Celia M T Greenwood, Nicole Soranzo, Daniel J Lawson, J Brent Richards
Genetic architecture describes the characteristics of genetic variation that are responsible for heritable phenotypic variability. It depends on the number of genetic variants affecting a trait, their frequencies in the population, the magnitude of their effects and their interactions with each other and the environment. Defining the genetic architecture of a complex trait or disease is central to the scientific and clinical goals of human genetics, which are to understand disease aetiology and aid in disease screening, diagnosis, prognosis and therapy...
December 11, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29225264/a-homozygous-lama2-mutation-of-c-818g-a-caused-partial-merosin-deficiency-in-a-japanese-patient
#18
Akatsuki Kubota, Hiroyuki Ishiura, Jun Mitsui, Kaori Sakuishi, Atsushi Iwata, Tomotaka Yamamoto, Ichizo Nishino, Shoji Tsuji, Jun Shimizu
A complete loss of merosin, which is encoded by LAMA2, causes congenital muscular dystrophy with leukoencephalopathy. Partial merosin deficiency can be caused not only by primarily LAMA2 mutations, but also secondarily by dystroglycanopathy. Although it can be molecularly diagnosed based on a genetic analysis, this method is labor-intensive because of its huge genome size. A 26-year-old male patient presented with mild muscular weakness, joint contractures, and epilepsy. Double immunofluorescence staining of a muscle biopsy specimen showed mislocalization of merosin, and a genetic analysis revealed a homozygous c...
December 8, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29225260/a-case-of-hyperparathyroidism-jaw-tumor-syndrome-confirmed-by-preoperative-genetic-testing
#19
Kenji Koikawa, Yosuke Okada, Hiroko Mori, Mayuko Kawaguchi, Shinya Uchino, Yoshiya Tanaka
We herein report the case of a young woman who was diagnosed with primary hyperparathyroidism and in whom genetic testing confirmed a diagnosis of hyperparathyroidism-jaw tumor syndrome. Familial hyperparathyroidism was suspected based on the patient's young age at the onset of the disease.Thus, genetic testing was performed.It showed a germline mutation in the HRPT2/CDC73 gene and confirmed the diagnosis of hyperparathyroidism-jaw tumor syndrome. Total parathyroidectomy was performed to prevent recurrence...
December 8, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29225145/surprisingly-good-outcome-in-antenatal-diagnosis-of-severe-hydrocephalus-related-to-ccdc88c-deficiency
#20
Mathew Wallis, Alessandra Baumer, Wiam Smaili, Imane Cherkaoui Jaouad, Abdelaziz Sefiani, Erica Jacobson, Lucy Bowyer, David Mowat, Anita Rauch
Non-syndromic congenital hydrocephalus is aetiologically diverse and while a genetic cause is frequently suspected, it often cannot be confirmed. The most common genetic cause is L1CAM-related X-linked hydrocephalus and that explains only 5%-10% of all male cases. This underlines a current limitation in our understanding of the genetic burden of non-syndromic congenital hydrocephalus, especially for those cases with likely autosomal recessive inheritance. Additionally, the prognosis for most cases of severe congenital hydrocephalus is poor, with most of the surviving infants displaying significant intellectual impairment despite surgical intervention...
December 7, 2017: European Journal of Medical Genetics
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