journal
MENU ▼
Read by QxMD icon Read
search

Application of Clinical Genetics

journal
https://www.readbyqxmd.com/read/27799810/novel-treatment-options-for-lysosomal-acid-lipase-deficiency-critical-appraisal-of-sebelipase-alfa
#1
REVIEW
Kim Su, Emma Donaldson, Reena Sharma
Lysosomal acid lipase deficiency (LAL-D) is a rare disorder of cholesterol metabolism with an autosomal recessive mode of inheritance. The absence or deficiency of the LAL enzyme gives rise to pathological accumulation of cholesterol esters in various tissues. A severe LAL-D phenotype manifesting in infancy is associated with adrenal calcification and liver and gastrointestinal involvement with characteristic early mortality. LAL-D presenting in childhood and adulthood is associated with hepatomegaly, liver fibrosis, cirrhosis, and premature atherosclerosis...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27660484/the-genetics-of-uveal-melanoma-current-insights
#2
REVIEW
Hildur Helgadottir, Veronica Höiom
Uveal melanoma (UM) is the most common malignant eye tumor in adults affecting ~7,000 individuals per year worldwide. UM is a rare subtype of melanoma with distinct clinical and molecular features as compared to other melanoma subtypes. UMs lack the most typical cutaneous melanoma-associated mutations (BRAF, NRAS, and NF1) and are instead characterized by a different set of genes with oncogenic or loss-of-function mutations. By next-generation sequencing efforts on UM tumors, several driver genes have been detected...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27621663/identification-of-a-novel-pathogenic-otof-variant-causative-of-nonsyndromic-hearing-loss-with-high-frequency-in-the-ashkenazi-jewish-population
#3
Anastasia M Fedick, Chaim Jalas, Ananya Swaroop, Eric E Smouha, Bryn D Webb
Mutations in the OTOF gene have previously been shown to cause nonsyndromic prelingual deafness (DFNB9, OMIM 601071) as well as auditory neuropathy/dys-synchrony. In this study, the OTOF NM_194248.2 c.5332G>T, p.Val1778Phe variant was identified in a large Ashkenazi Jewish family as the causative variant in four siblings with hearing loss. Our analysis reveals a carrier frequency of the OTOF c.5332G>T, p.Val1778Phe variant of 1.27% in the Ashkenazi Jewish population, suggesting that this variant may be a significant contributor to nonsyndromic sensorineural hearing loss and should be considered for inclusion in targeted hearing loss panels for this population...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27555794/examining-genotypic-variation-in-autism-spectrum-disorder-and-its-relationship-to-parental-age-and-phenotype
#4
David A Geier, Janet K Kern, Lisa K Sykes, Mark R Geier
BACKGROUND: Previous studies on genetic testing of chromosomal abnormalities in individuals diagnosed with autism spectrum disorder (ASD) found that ~80% have negative genetic test results (NGTRs) and ~20% have positive genetic test results (PGTRs), of which ~7% were probable de novo mutations (PDNMs). Research suggests that parental age is a risk factor for an ASD diagnosis. This study examined genotypic variation in ASD and its relationship to parental age and phenotype. METHODS: Phenotype was derived from detailed clinical information, and genotype was derived from high-resolution blood chromosome and blood whole-genome copy number variant genetic testing on a consecutive cohort (born: 1983-2009) of subjects diagnosed with ASD (N=218)...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27536156/rock2-and-mylk-variants-and-high-altitude-pulmonary-edema
#5
Gaurav Sikri, Srinivasa Bhattachar
No abstract text is available yet for this article.
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27536155/the-association-between-vitamin-d-receptor-gene-polymorphisms-taqi-and-foki-type-2-diabetes-and-micro-macrovascular-complications-in-postmenopausal-women
#6
Juliana Maia, Andreia Soares da Silva, Rodrigo Feliciano do Carmo, Taciana Furtado de Mendonça, Luiz Henrique Maciel Griz, Patricia Moura, Francisco Bandeira
INTRODUCTION: Since there is evidence of the action of vitamin D as a modulator of insulin release and atherosclerosis, it may well be that the vitamin D receptor polymorphisms are associated with diabetes and its chronic complications. AIMS: To examine the associations between vitamin D receptor polymorphisms (FokI and TaqI) and Type 2 diabetes (T2DM) and its associated chronic complications in postmenopausal women. METHODS: This cross-sectional study analyzed 100 postmenopausal women with T2DM (mean age 65...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27499644/animal-models-of-gm2-gangliosidosis-utility-and-limitations
#7
REVIEW
Cheryl A Lawson, Douglas R Martin
GM2 gangliosidosis, a subset of lysosomal storage disorders, is caused by a deficiency of the glycohydrolase, β-N-acetylhexosaminidase, and includes the closely related Tay-Sachs and Sandhoff diseases. The enzyme deficiency prevents the normal, stepwise degradation of ganglioside, which accumulates unchecked within the cellular lysosome, particularly in neurons. As a result, individuals with GM2 gangliosidosis experience progressive neurological diseases including motor deficits, progressive weakness and hypotonia, decreased responsiveness, vision deterioration, and seizures...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27499643/mevalonate-kinase-deficiency-current-perspectives
#8
REVIEW
Leslie A Favier, Grant S Schulert
Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of manifestations, including the well-defined clinical phenotypes of hyperimmunoglobulinemia D and periodic fever syndrome and mevalonic aciduria. Patients with MKD have recurrent attacks of hyperinflammation associated with fever, abdominal pain, arthralgias, and mucocutaneous lesions, and more severely affected patients also have dysmorphisms and central nervous system anomalies. MKD is caused by mutations in the gene encoding mevalonate kinase, with the degree of residual enzyme activity largely determining disease severity...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27471403/genetic-basis-of-cowden-syndrome-and-its-implications-for-clinical-practice-and-risk-management
#9
REVIEW
Amanda Gammon, Kory Jasperson, Marjan Champine
Cowden syndrome (CS) is an often difficult to recognize hereditary cancer predisposition syndrome caused by mutations in phosphatase and tensin homolog deleted on chromosome 10 (PTEN). In addition to conferring increased cancer risks, CS also predisposes individuals to developing hamartomatous growths in many areas of the body. Due to the rarity of CS, estimates vary on the penetrance of certain phenotypic features, such as macrocephaly and skin findings (trichilemmomas, mucocutaneous papules), as well as the conferred lifetime cancer risks...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27468247/utilization-of-genetic-testing-among-children-with-developmental-disabilities-in-the-united-states
#10
Bridget Kiely, Sujit Vettam, Andrew Adesman
PURPOSE: Several professional societies recommend that genetic testing be routinely included in the etiologic workup of children with developmental disabilities. The aim of this study was to determine the rate at which genetic testing is performed in this population, based on data from a nationally representative survey. METHODS: Data were analyzed from the Survey of Pathways to Diagnosis and Services, a telephone-based survey of parents and guardians of US school-age children with current or past developmental conditions...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27418850/alagille-syndrome-clinical-perspectives
#11
REVIEW
Maha Saleh, Binita M Kamath, David Chitayat
Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular abnormalities can also occur. Inter- and intrafamilial variabilities in the clinical manifestations are common. We reviewed the clinical features and management as well as the molecular basis of Alagille syndrome...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27366102/role-of-elosulfase-alfa-in-mucopolysaccharidosis-iva
#12
REVIEW
Debra S Regier, Pranoot Tanpaiboon
Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive lysosomal storage disease which results in a striking skeletal phenotype, but does not negatively impact the intellect of the patient. MPS IVA has a phenotypic continuum that ranges from a severe and rapidly progressing form to a slowly progressive form. The clinical diagnosis is often made in the preschool years based on abnormal bone findings on physical examination and dysplasia on radiographic imaging. Supportive care has been the mainstay in caring for patients...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27274304/marfan-syndrome-current-perspectives
#13
REVIEW
Guglielmina Pepe, Betti Giusti, Elena Sticchi, Rosanna Abbate, Gian Franco Gensini, Stefano Nistri
Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27194917/genetics-of-lafora-progressive-myoclonic-epilepsy-current-perspectives
#14
REVIEW
Miljana Kecmanović, Milica Keckarević-Marković, Dušan Keckarević, Galina Stevanović, Nebojša Jović, Stanka Romac
Lafora disease (LD) is a fatal neurodegenerative disorder caused by loss-of-function mutations in either laforin glycogen phosphatase gene (EPM2A) or malin E3 ubiquitin ligase gene (NHLRC1). LD is associated with gradual accumulation of Lafora bodies (LBs). LBs are aggregates of polyglucosan, a long, linear, poorly branched, hyperphosphorylated, insoluble form of glycogen. Loss-of-function mutations either in the EPM2A or in the NHLRC1 gene lead to polyglucosan formation. One hypothesis on LB formation is based on findings that laforin-malin complex downregulates glycogen synthase (GS) through malin-mediated ubiquitination, and the other one is based on findings that laforin dephosphorylates glycogen...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27099524/natural-killer-cells-and-single-nucleotide-polymorphisms-of-specific-ion-channels-and-receptor-genes-in-myalgic-encephalomyelitis-chronic-fatigue-syndrome
#15
Sonya Marshall-Gradisnik, Teilah Huth, Anu Chacko, Samantha Johnston, Pete Smith, Donald Staines
AIM: The aim of this paper was to determine natural killer (NK) cytotoxic activity and if single nucleotide polymorphisms (SNPs) and genotypes in transient receptor potential (TRP) ion channels and acetylcholine receptors (AChRs) were present in isolated NK cells from previously identified myalgic encephalomyelitis (ME)/chronic fatigue syndrome (CFS) patients. SUBJECTS AND METHODS: A total of 39 ME/CFS patients (51.69±2 years old) and 30 unfatigued controls (47...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27022295/analysis-of-the-cftr-gene-in-venezuelan-cystic-fibrosis-patients-identification-of-six-novel-cystic-fibrosis-causing-genetic-variants
#16
Karen Sánchez, Elizabeth de Mendonca, Xiorama Matute, Ismenia Chaustre, Marlene Villalón, Howard Takiff
The mutations in the CFTR gene found in patients with cystic fibrosis (CF) have geographic differences, but there are scant data on their prevalence in Venezuelan patients. This study determined the frequency of common CFTR gene mutations in a group of Venezuelan patients with CF. The 27 exons of the CFTR gene from 110 Venezuelan patients in the National CF Program were amplified and sequenced. A total of 36 different mutations were identified, seven with frequencies greater than 1%: p.Phe508del (27.27%), p...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/26966385/emery-dreifuss-muscular-dystrophy-a-test-case-for-precision-medicine
#17
REVIEW
De-Ann M Pillers, Nicholas H Von Bergen
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of scapulohumeroperoneal muscle weakness, joint contractures, and cardiac defects that include arrhythmias and dilated cardiomyopathy. Although there is a defining group of clinical findings, the proteins responsible and their underlying gene defects leading to EDMD are varied. A common aspect of the gene defects is their involvement in, or with, the nuclear envelope. Treatment approaches are largely based on clinical symptoms. The genetic diversity of EDMD predicts that a cure will ultimately depend upon the individual's defect at the gene level, making this an ideal candidate for a precision medicine approach...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/26893576/non-invasive-prenatal-testing-for-fetal-chromosome-abnormalities-review-of-clinical-and-ethical-issues
#18
REVIEW
Jean Gekas, Sylvie Langlois, Vardit Ravitsky, François Audibert, David Gradus van den Berg, Hazar Haidar, François Rousseau
Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening) was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be incorporated in real life. The direct marketing to users may have facilitated the early introduction of cfDNA screening into clinical practice despite limited evidence-based independent research data supporting this rapid shift...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/26893575/candidate-genes-of-idiopathic-pulmonary-fibrosis-current-evidence-and-research
#19
REVIEW
Wei Zhou, Yaping Wang
Idiopathic pulmonary fibrosis (IPF) is a group of common and lethal forms of idiopathic interstitial pulmonary disease. IPF is characterized by a progressive decline in lung function with a median survival of 2-3 years after diagnosis. Although the pathogenesis of the disease remains unknown, genetic predisposition could play a causal role in IPF. A set of genes have been identified as candidate genes of IPF in the past 20 years. However, the recent technological advances that allow for the analysis of millions of polymorphisms in different subjects have deepened the understanding of the genetic complexity of IPF susceptibility...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/26834495/case-report-of-individual-with-cutaneous-immunodeficiency-and-novel-1p36-duplication
#20
Alyn D Hatter, David C Soler, Christine Curtis, Kevin D Cooper, Thomas S McCormick
INTRODUCTION: Crusted or Norwegian scabies is an infectious skin dermatopathology usually associated with an underlying immunodeficiency condition. It is caused when the mite Sarcoptes scabiei infects the skin, and the immune system is unable to control its spread, leading to a massive hyperinfestation with a simultaneous inflammatory and hyperkeratotic reaction. This is the first report of a novel 1p36 duplication associated with a recurrent infection of crusted scabies. CASE REPORT: We describe a 34-year-old patient with a cutaneous immunodeficiency characterized by recurrent crusted scabies infestation, diffuse tinea, and recurrent staphylococcal cellulitis, who we suspected had an undiagnosed syndrome...
2016: Application of Clinical Genetics
journal
journal
43972
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"