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Genetic diagnosis

Christina Williams, Alicia J Long, Heather Noga, Catherine Allaire, Mohamed A Bedaiwy, Sarka Lisonkova, Paul J Yong
STUDY OBJECTIVE: To investigate ethnic differences for moderate-to-severe endometriosis DESIGN: Analysis of a prospective registry, December 2013 - December 2016 ( # NCT02911090). INCLUSION CRITERIA: Women presenting to tertiary referral center for pelvic pain and/or endometriosis. EXCLUSION CRITERIA: Age greater than 50, menopausal, or mixed ethnicity. Logistic regression analysis was used to obtain adjusted odds ratios (aOR) and 95% confidence intervals (CI) adjusting for potential confounders (e...
June 20, 2018: Journal of Minimally Invasive Gynecology
Blanka Stiburkova, Katerina Pavelcova, Lenka Petru, Jakub Krijt
BACKGROUND: The aim of our study was to identify the genetic background of thiopurine-induced toxicity in a patient with a wild-type thiopurine methyltransferase genotype and activity. A 38-year-old Caucasian woman presented with cutaneous necrotizing vasculitis pancytopenia one month after starting azathioprine therapy. METHODS: During a routine biochemical follow-up of the patient, undetectable serum uric acid (<10 μmol/l) was observed. A high performance liquid chromatography analysis of urinary purines revealed increased levels of xanthine (137 mmol/mol creatinine)...
June 20, 2018: Toxicology and Applied Pharmacology
Katalin Koczok, Éva Gombos, László Madar, Olga Török, István Balogh
OBJECTIVE: Fetal samples obtained by invasive techniques are prone to maternal cell contamination (MCC) which may lead to false genotyping results. Our aim was to determine three molecular genetic tests' sensitivity to MCC. METHOD: By mixing experiments 1, 5, 10, 20, 30 and 40% MCC was simulated and significant MCC levels were determined for Sanger DNA sequencing, multiplex ligation-dependent probe amplification (MLPA) and pyrosequencing, a next generation sequencing (NGS) method...
June 23, 2018: Prenatal Diagnosis
Simeen Ber Rahman, Asif Mir, Nafees Ahmad, Syed Husnain Haider, Salman Akbar Malik, Muhammad Nasir
Non-bullous congenital ichthyosiform erythroderma (NCIE) is characterized by skin scaling with erythema. In this study, two Pakistani families with NCIE are genetically characterized through Whole Exome and Sanger sequencing to identify molecular basis of the disease. We identified a nonsense homozygous c.2026C>T mutation of ALOXE3, causing premature termination of the eLOX3 protein (p.Q676X). In silico studies predicted impaired enzymatic activity of the premature truncated eLOX3, leading to abnormal synthesis of specific hepoxilin derivatives, essential for epidermal barrier formation...
June 23, 2018: Congenital Anomalies
Masateru Kumemura, Takeshi Omae, Keito Kou, Sonoko Sakuraba, Naoko Niimi, Shinji Kunishima
May-Hegglin anomaly (MHA) is an inherited autosomal dominant disorder characterized by giant platelets and inclusion bodies in granulocytes, and thrombocytopenia. There is no consensus on the perioperative management of this disorder. We report a case involving a patient with MHA who was perioperatively managed without platelet transfusion for cervical laminectomy and laminoplasty. In our case, the platelet count was measured to be 0.6 × 104 /µL using an automatic blood cell counter. Peripheral blood smear and genetic test analyses were performed, leading to a definitive diagnosis of MHA...
June 22, 2018: Journal of Anesthesia
Cong Lu, Li-Xi Li, Hai-Lin Dong, Qiao Wei, Zhi-Jun Liu, Wang Ni, Aaron D Gitler, Zhi-Ying Wu
Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurodegenerative diseases characterized by progressive weakness and spasticity of lower limbs. To clarify the genetic spectrum and improve the diagnosis of HSP patients, targeted next-generation sequencing (NGS) was applied to detect the culprit genes in 55 Chinese HSP pedigrees. The classification of novel variants was based on the American College of Medical Genetics and Genomics (ACMG) standards and guidelines. Patients remaining negative following targeted NGS were further screened for gross deletions/duplications by multiplex ligation-dependent probe amplification (MLPA)...
July 2018: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
Isabell Brikell, Henrik Larsson, Yi Lu, Erik Pettersson, Qi Chen, Ralf Kuja-Halkola, Robert Karlsson, Benjamin B Lahey, Paul Lichtenstein, Joanna Martin
Common genetic risk variants have been implicated in the etiology of clinical attention-deficit/hyperactivity disorder (ADHD) diagnoses and symptoms in the general population. However, given the extensive comorbidity across ADHD and other psychiatric conditions, the extent to which genetic variants associated with ADHD also influence broader psychopathology dimensions remains unclear. The aim of this study was to evaluate the associations between ADHD polygenic risk scores (PRS) and a broad range of childhood psychiatric symptoms, and to quantify the extent to which such associations can be attributed to a general factor of childhood psychopathology...
June 22, 2018: Molecular Psychiatry
C Raina MacIntyre, Elizabeth Kpozehouen, Mohana Kunasekaran, Kathleen Harriman, Stephen Conaty, Alexander Rosewell, Julian Druce, Nicolee Martin, Anita E Heywood, Heather F Gidding, James Wood, Sonya Nicholl
Control of measles was the focus of a national workshop held in 2015 in Sydney, Australia, bringing together stakeholders in disease control and immunisation to discuss maintaining Australia's measles elimination status in the context of regional and global measles control. The global epidemiology of measles was reviewed, including outbreaks in countries that have achieved elimination, such as the Disneyland outbreak in the United States and large outbreaks in Sydney, Australia. Transmission of measles between Australia and New Zealand occurs, but has not been a focus of control measures...
June 19, 2018: Vaccine
Kees Okkersen, Cecilia Jimenez-Moreno, Stephan Wenninger, Ferroudja Daidj, Jeffrey Glennon, Sarah Cumming, Roberta Littleford, Darren G Monckton, Hanns Lochmüller, Michael Catt, Catharina G Faber, Adrian Hapca, Peter T Donnan, Gráinne Gorman, Guillaume Bassez, Benedikt Schoser, Hans Knoop, Shaun Treweek, Baziel G M van Engelen
BACKGROUND: Myotonic dystrophy type 1 is the most common form of muscular dystrophy in adults and leads to severe fatigue, substantial physical functional impairment, and restricted social participation. In this study, we aimed to determine whether cognitive behavioural therapy optionally combined with graded exercise compared with standard care alone improved the health status of patients with myotonic dystrophy type 1. METHODS: We did a multicentre, single-blind, randomised trial, at four neuromuscular referral centres with experience in treating patients with myotonic dystrophy type 1 located in Paris (France), Munich (Germany), Nijmegen (Netherlands), and Newcastle (UK)...
June 18, 2018: Lancet Neurology
Ulrika Heu, Mats Bogren, August G Wang, Louise Brådvik
OBJECTIVE: Additional and comorbid diagnoses are common among suicide victims with major depressive disorder (MDD) and have been shown to increase the suicide risk. The aim of the present study was first, to investigate whether patients with severe depression/melancholia who had died by suicide showed more additional psychiatric disorders than a matched control group. Second, general rates of comorbid and additional diagnoses in the total group of patients were estimated and compared with literature on MDD...
June 21, 2018: International Journal of Environmental Research and Public Health
Jing Peng, Nan Pang, Ying Wang, Xiao-Le Wang, Jian Chen, Juan Xiong, Pan Peng, Can-Hui Zhu, Miriam Barakael Kessi, Fang He, Fei Yin
BACKGROUND: The purposes of this study were three-fold: (i) to determine the contribution of known genes to the causation of a broad-spectrum of pediatric drug-resistant epilepsy (DRE), (ii) to compare the diagnostic yield and cost among different next-generation sequencing (NGS) approaches, and especially (iii) to assess how NGS approaches can benefit patients by improving diagnosis and treatment efficiency. METHODS: This study enrolled 273 pediatric DRE patients with no obvious acquired etiology...
June 22, 2018: CNS Neuroscience & Therapeutics
Seong Cheol Hong, Dhiraj P Murale, Se-Young Jang, Md Mamunul Haque, Minah Seo, Seok Lee, Deok Ha Woo, Junghoon Kwon, Chang-Seon Song, Yun Kyung Kim, Jun-Seok Lee
Avian Influenza (AI) caused an annual epidemic outbreak that led to destroying tens of millions of poultry worldwide. Current gold standard AI diagnosis method is an embryonic egg-based hemagglutination assay followed by immunoblotting or PCR sequencing to confirm subtypes. It requires, however, specialized facilities to handle egg inoculation and incubation, and the subtyping methods relied on costly reagents. Here, we demonstrated the first differential sensing approach to distinguish AI subtypes using series of cell lines and fluorescent sensor...
June 22, 2018: Angewandte Chemie
Callum J Donaldson, Stuart L Mitchell, Lee H Riley, Khaled Kebaish
STUDY DESIGN: Case report and literature review. OBJECTIVE: To characterize the rare presentati on of myelopathy occurring secondary to alkaptonuria and to evaluate the available evidence regarding its treatment. SUMMARY OF BACKGROUND DATA: Alkaptonuria is an autosomal recessive genetic condition with an estimated incidence of 1 in 250,000 to 1 in 1,000,000 people. Mutation of the enzyme homogentisate 1,2-dioxygenase leads to the production of high levels of homogentisic acid (HGA), with subsequent deposition in ligaments, cartilage, and menisci...
June 21, 2018: Spine
Kristin Torre, Janelle Ricketts, Soheil S Dadras
We report a case of a 68-year-old white woman presenting with 5 sebaceous neoplasms, ranging from sebaceous adenoma to sebaceoma on histopathology. Despite the lack of a personal cancer history, her multiple sebaceous neoplasms and a paternal history of colon cancer prompted testing her sebaceous adenomas for microsatellite instability (MSI) by immunohistochemistry. The results showed retained nuclear expressions of MLH1 and PMS2 while MSH2 and MSH6 proteins were absent. The tumor infiltrating lymphocytes expressed both MSH2 and MSH6, providing reliable internal positive controls...
June 14, 2018: American Journal of Dermatopathology
Suzanne P MacFarland, Kelly A Duffy, Tricia R Bhatti, Rochelle Bagatell, Naomi J Balamuth, Garrett M Brodeur, Arupa Ganguly, Peter A Mattei, Lea F Surrey, Frank M Balis, Jennifer M Kalish
Beckwith-Wiedemann syndrome (BWS) is a genetic syndrome associated with overgrowth and cancer predisposition, including predisposition to Wilms tumor (WT). Patients with BWS and BWS spectrum are screened from birth to age 7 years for BWS-associated cancers. However, in some cases a BWS-associated cancer may be the first recognized manifestation of the syndrome. We describe 12 patients diagnosed with BWS after presenting with a WT. We discuss the features of BWS in these patients and hypothesize that earlier detection of BWS by attention to its subtler manifestations could lead to earlier detection of children at risk for associated malignancies...
June 22, 2018: Pediatric Blood & Cancer
Jennifer A Ciarochi, Jingyu Liu, Vince Calhoun, Hans Johnson, Maria Misiura, H Jeremy Bockholt, Flor A Espinoza, Arvind Caprihan, Sergey Plis, Jessica A Turner, Jane S Paulsen
This study assessed how BDNF (brain-derived neurotrophic factor) and other genes involved in its signaling influence brain structure and clinical functioning in pre-diagnosis Huntington's disease (HD). Parallel independent component analysis (pICA), a multivariate method for identifying correlated patterns in multimodal datasets, was applied to gray matter concentration (GMC) and genomic data from a sizeable PREDICT-HD prodromal cohort ( N = 715). pICA identified a genetic component highlighting NTRK2 , which encodes BDNF's TrkB receptor, that correlated with a GMC component including supplementary motor, precentral/premotor cortex, and other frontal areas ( p < 0...
June 22, 2018: Brain Sciences
M Glushkova, V Bojinova, M Koleva, P Dimova, M Bojidarova, I Litvinenko, T Todorov, E Iluca, C Calusaru, E Neagu, D Craiu, V Mitev, A Todorova
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of hamartomas localized in various tissues which can occur in the skin, brain, kidney and other organs. TSC is caused by mutations in the TSC1 and TSC2 genes. Here we report the results from the first molecular testing of 16 Bulgarian patients and one Romanian patient in whom we found six novel mutations: four in the TSC2 2 gene, of which one is nonsense, two frame shift and one large deletion of 16 exons; and two in the TSC1 gene, one nonsense and other frame shift...
June 2018: Journal of Genetics
May Sanyoura, Louis H Philipson, Rochelle Naylor
PURPOSE OF REVIEW: We provide a review of monogenic diabetes in young children and adolescents with a focus on recognition, management, and pharmacological treatment. RECENT FINDINGS: Monogenic forms of diabetes account for approximately 1-2% of diabetes in children and adolescents, and its incidence has increased in recent years due to greater awareness and wider availability of genetic testing. Monogenic diabetes is due to single gene defects that primarily affect beta cell function with more than 30 different genes reported...
June 22, 2018: Current Diabetes Reports
John K Chan, Stephanie Chow, Subasish Bhowmik, Amandeep Mann, Daniel S Kapp, Robert L Coleman
Gynecologic cancers comprise of mostly uterine, ovarian, and cervical malignancies and are responsible for 95,000 new cases annually in the United States. Uterine cancer is the most common and the number of new cases and mortality has been increasing. Cervical cancer has decreased due to screening, early detection, and treatment of pre-invasive cancers. However, ovarian cancer remains the most lethal because of advanced stage at diagnosis and drug resistance. The metastatic spread pattern differs amongst these cancers, with uterine and cervical cancer found mostly in the primary organ and ovarian cancer disseminating throughout the peritoneum and upper abdomen at presentation...
June 21, 2018: Clinical & Experimental Metastasis
Chloé Sarnowski, Marie-France Hivert
PURPOSE OF REVIEW: Glycated hemoglobin (A1c) is used to diagnose type 2 diabetes and monitor glycemic control. Specific genetic variants interfere with A1c and effects/frequencies of some variants vary by ancestry. In this review, we summarize findings from large trans-ethnic meta-analyses of genome-wide association studies (GWAS) of A1c and describe some variants influencing erythrocyte biology and interfering with A1c. RECENT FINDINGS: Recent GWAS meta-analyses have revealed 60 loci associated with A1c in multi-ethnic populations...
June 21, 2018: Current Diabetes Reports
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