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Pre genetic diagnosis

Birgit Mentrup, Hermann Girschick, Franz Jakob, Christine Hofmann
Hypophosphatasia (HPP) is a multi-systemic inborn disease with an extraordinary spectrum of severity, ranging from the absence of mineralization to high lethality and it involves different organs including bone, muscle, kidney, lung, gastrointestinal tract and the nervous system. The disease is characterized by low levels of serum alkaline phosphatase, caused by loss-of-function mutations within the ALPL gene that encodes the tissue-nonspecific alkaline phosphatase TNAP. Here we present the functional characterization of a gene mutation, detected in intron 7 of the ALPL gene of a boy with infantile HPP in whom routine sequencing of the coding region failed to detect any mutation...
October 21, 2016: Bone
Hongqiang Li, Danyang Yuan, Youxi Wang, Dianyin Cui, Lu Cao
Automatic recognition of arrhythmias is particularly important in the diagnosis of heart diseases. This study presents an electrocardiogram (ECG) recognition system based on multi-domain feature extraction to classify ECG beats. An improved wavelet threshold method for ECG signal pre-processing is applied to remove noise interference. A novel multi-domain feature extraction method is proposed; this method employs kernel-independent component analysis in nonlinear feature extraction and uses discrete wavelet transform to extract frequency domain features...
October 20, 2016: Sensors
Manisha Balwani, Preeti Singh, Anju Seth, Ekta Malik Debnath, Hetanshi Naik, Dana Doheny, Brenden Chen, Makiko Yasuda, Robert J Desnick
Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme metabolism, typically presents in adulthood, most often in women in the reproductive age group. There are limited reports on the clinical presentation in children, and in contrast to the adults, most of the reported pediatric cases are male. While acute abdominal pain is the most common presenting symptom in children, seizures are commonly seen and may precede the diagnosis of AIP. As an example, we report a 9year old developmentally normal pre-pubertal boy who presented with acute abdominal pain, vomiting and constipation followed by hyponatremia, seizures, weakness and neuropathy...
October 15, 2016: Molecular Genetics and Metabolism
Divya Talwar, Tung-Sung Tseng, Margaret Foster, Lei Xu, Lei-Shih Chen
PURPOSE: The completion of the Human Genome Project has enhanced avenues for disease prevention, diagnosis, and management. Owing to the shortage of genetic professionals, genetics/genomics training has been provided to nongenetic health professionals for years to establish their genomic competencies. We conducted a systematic literature review to summarize and evaluate the existing genetics/genomics education programs for nongenetic health professionals. METHODS: Five electronic databases were searched from January 1990 to June 2016...
October 20, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Simona Gaudino, Matia Martucci, Rosellina Russo, Emiliano Visconti, Emma Gangemi, Francesco D'Argento, Tommaso Verdolotti, Libero Lauriola, Cesare Colosimo
BACKGROUND: Pilocytic astrocytoma (PA) is the most common pediatric brain glioma and is considered the prototype of benign circumscribed astrocytoma. Despite its low malignancy, the CT and MRI features of brain PA may resemble those of much more aggressive brain tumors. Misdiagnosis of PA is particularly easy when it demonstrates MR morphological and non-morphological findings that are inconsistent with its non-aggressive nature and that overlap with the features of more aggressive brain tumors...
October 18, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
A Mekinian, J Cohen, G Kayem, L Carbillon, P Nicaise-Roland, B Gaugler, E Darai, M Bornes, O Fain
About 1-3% of women experience early recurrent miscarriages, defined by ≥3 fetal loss before 14 weeks of gestation. About half of these recurrent early miscarriages could be related to a genetic cause. Pre-implantation genetic diagnosis is used in several European countries, but it is still prohibited in France except for couples at risk for transmission of severe genetic diseases. The immune dysregulation, and in particular allo-immune excessive response, could be responsible for fetal loss in remaining cases, although currently we lack biomarker to confirm the immune-mediated fetal loss...
October 14, 2016: La Revue de Médecine Interne
Alfredo Campennì, Salvatore Giovinazzo, Salvatore Antonio Pignata, Francesca Di Mauro, Domenico Santoro, Lorenzo Curtò, Francesco Trimarchi, Rosaria Maddalena Ruggeri, Sergio Baldari
Parathyroid carcinoma is a rare malignancy, which usually occurs as a sporadic disease, and less frequently in the setting of genetic syndromes. Despite the association of parathyroid and thyroid disorders being quite common, the coexistence of parathyroid carcinoma and thyroid disease is rare. We reviewed the pertinent literature. The terms "parathyroid carcinoma" and "thyroid disease, hyperthyroidism, thyrotoxicosis, hypothyroidism, thyroid nodule(s), Graves' disease, autonomously functioning thyroid nodules" were used both separately and in reciprocal conjunction to search MEDLINE for articles published from January 2007 to March 2016...
October 15, 2016: Endocrine
Wanjun Zhu, Xiao-Yan Zhang, Sadie L Marjani, Jialing Zhang, Wengeng Zhang, Shixiu Wu, Xinghua Pan
Single-cell sequencing (SCS) is a fast-growing, exciting field in genomic medicine. It enables the high-resolution study of cellular heterogeneity, and reveals the molecular basis of complicated systems, which facilitates the identification of new biomarkers for diagnosis and for targeting therapies. It also directly promotes the next generation of genomic medicine because of its ultra-high resolution and sensitivity that allows for the non-invasive and early detection of abnormalities, such as aneuploidy, chromosomal translocation, and single-gene disorders...
October 13, 2016: Cellular and Molecular Life Sciences: CMLS
X M Pan, X Xiao, H J Qin, Z Zhang, Z H Li, L B Gao, J Jia
Colorectal cancer (CRC) is a multi-factorial disease, and genetic background may contribute to its etiology. Single nucleotide polymorphisms (SNPs) in microRNAs (miRNAs) may be used as specific markers of predisposition for CRC diagnosis and prevention. In this review, we summarize and discuss recent publications evaluating the roles of miRNA SNPs in CRC. A meta-analysis was also carried out to assess the association between the five most frequently studied miRNA SNPs and CRC risk. No relationship was established between this disease and the three SNPs rs11614913, rs2910164, and rs3746444 in miR-196a-2, miR-146a, and miR-499, respectively...
August 29, 2016: Genetics and Molecular Research: GMR
Floriana Giorgio, Enzo Ierardi, Claudia Sorrentino, Mariabeatrice Principi, Michele Barone, Giuseppe Losurdo, Andrea Iannone, Antonio Giangaspero, Rosa Monno, Alfredo Di Leo
PURPOSE: Real-time polymerase chain reaction (RT-PCR) is a widely used technique for bacterial and viral infection diagnosis. Herein, we report our preliminary experience in retrieving H. pylori genetic sequences in stools and analyzing genotypic clarithromycin resistance by RT-PCR (noninvasive), with the aim of comparing this procedure with that performed on biopsy samples (invasive). MATERIALS AND METHODS: After 'in vitro' demonstration of H. pylori DNA detection from pure and stool-mixed bacteria, 52 consecutive patients at the first diagnosis of infection were investigated...
December 2016: Scandinavian Journal of Gastroenterology
Zsuzsanna Bereczky, Réka Gindele, Marianna Speker, Judit Kállai
Venous thrombosis is a typical common complex disease as acquired and genetic causes play a role in its development. The different "loss of function" mutations of the natural anticoagulant system lead to antithrombin (AT), protein C (PC) and protein S (PS) deficiencies. Since thrombophilia testing has high cost and it has several methodological issues (analytical, pre-analytical), which makes the interpretation of results difficult, considerations should be made on the indications of testing, on the parameters that are measured and on the best available method to use...
April 2016: EJIFCC
Stefan C Kane, Elissa Willats, Sammya Bezerra Maia E Holanda Moura, Jonathan Hyett, Fabrício da Silva Costa
Chromosomal aneuploidy is responsible for a significant proportion of pregnancy failures, whether conceived naturally or through in vitro fertilization (IVF). In an effort to improve the success rate of IVF, screening embryos for aneuploidy - or pre-implantation genetic screening (PGS) - has been proposed as a means of ensuring only euploid embryos are selected for transfer. Early PGS approaches were based on fluorescence in situ hybridization testing, and have been shown not to improve live birth rates. Recent developments in genetic testing technologies - such as next-generation sequencing and quantitative polymerase chain reaction, coupled with embryo biopsy at the blastocyst stage - have shown promise in improving IVF outcomes, but they remain to be validated in adequately powered, prospective randomized trials...
September 29, 2016: Fetal Diagnosis and Therapy
Cielito C Reyes-Gibby, Jian Wang, Mary Rose T Silvas, Robert K Yu, Ehab Y Hanna, Sanjay Shete
Pain is often one of the first signs of squamous cell carcinoma of the head and neck (HNSCC). Pain at diagnosis is an important prognostic marker for the development of chronic pain, and importantly, for the overall survival time. To identify variants influencing severe pre-treatment pain in 1,368 patients newly diagnosed with HNSCC, we conducted a genome-wide association study based on 730,525 tagging SNPs. The patients were all previously untreated for cancer. About 15% of the patients had severe pre-treatment pain, defined as pain score ≥7 (0 = "no pain" and 10 = "worst pain")...
September 27, 2016: Scientific Reports
Marc Alexandre Duarte Gigonzac, Lilian Souza Teodoro, Lysa Berandes Minasi, Thaís Cidália Vieira, Aparecido Divino da Cruz
Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability. The most common etiology of the syndrome is expansion and methylation of a CGG trinucleotide at chromosome region Xq27.3 involving FMR1. This disorder is commonly underdiagnosed in children and adolescents, given the high clinical variability. In Brazil, molecular diagnosis of FXS by capillary electrophoresis does not exist in the public health system. The current standard for separation and identification of DNA fragment sizes is 50 cm capillary electrophoresis, which is uncommon in public genotyping laboratories...
September 26, 2016: Electrophoresis
Paula C Goldenberg, Betsy J Adler, Ashley Parrott, Julia Anixt, Karen Mason, Jannel Phillips, David S Cooper, Stephanie M Ware, Bradley S Marino
BACKGROUND: There is a known high prevalence of genetic and clinical syndrome diagnoses in the paediatric cardiac population. These disorders often have multisystem effects, which may have an important impact on neurodevelopmental outcomes. Taken together, these facts suggest that patients and families may benefit from consultation by genetic specialists in a cardiac neurodevelopmental clinic. OBJECTIVE: This study assessed the burden of genetic disorders and utility of genetics evaluation in a cardiac neurodevelopmental clinic...
September 19, 2016: Cardiology in the Young
R Douglas Wilson, Isabelle De Bie, Christine M Armour, Richard N Brown, Carla Campagnolo, June C Carroll, Nan Okun, Tanya Nelson, Rhonda Zwingerman, Francois Audibert, Jo-Ann Brock, Richard N Brown, Carla Campagnolo, June C Carroll, Isabelle De Bie, Jo-Ann Johnson, Nan Okun, Melanie Pastruck, Karine Vallée-Pouliot, R Douglas Wilson, Rhonda Zwingerman, Christine Armour, David Chitayat, Isabelle De Bie, Sara Fernandez, Raymond Kim, Josee Lavoie, Norma Leonard, Tanya Nelson, Sherry Taylor, Margot Van Allen, Clara Van Karnebeek
OBJECTIVE: This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. INTENDED USERS: All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7...
August 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Joris Robert Vermeesch, Thierry Voet, Koenraad Devriendt
The past decade has seen the development of technologies that have revolutionized prenatal genetic testing; that is, genetic testing from conception until birth. Genome-wide single-cell arrays and high-throughput sequencing analyses are dramatically increasing our ability to detect embryonic and fetal genetic lesions, and have substantially improved embryo selection for in vitro fertilization (IVF). Moreover, both invasive and non-invasive mutation scanning of the genome are helping to identify the genetic causes of prenatal developmental disorders...
September 15, 2016: Nature Reviews. Genetics
April Morrow, Sean Seeho, Kristine Barlow-Stewart, Jane Fleming, Bettina Meiser, Janan Karatas
BACKGROUND: Pre-implantation genetic diagnosis (PGD) is a molecular diagnostic technique in which embryos are tested for specific genetic abnormalities to enable the selection of those unaffected by the condition. Previous Australian evidence suggested that women who are not informed about PGD by their obstetrician feel disempowered about not being given this option. AIMS: This study aimed to explore obstetrician knowledge regarding PGD and identify barriers to referral...
September 9, 2016: Australian & New Zealand Journal of Obstetrics & Gynaecology
Massimiliano Cecconi, Maria I Parodi, Francesco Formisano, Paolo Spirito, Camillo Autore, Maria B Musumeci, Stefano Favale, Cinzia Forleo, Claudio Rapezzi, Elena Biagini, Sabrina Davì, Elisabetta Canepa, Loredana Pennese, Mauro Castagnetta, Dario Degiorgio, Domenico A Coviello
Hypertrophic cardiomyopathy (HCM) is mainly associated with myosin, heavy chain 7 (MYH7) and myosin binding protein C, cardiac (MYBPC3) mutations. In order to better explain the clinical and genetic heterogeneity in HCM patients, in this study, we implemented a target-next generation sequencing (NGS) assay. An Ion AmpliSeq™ Custom Panel for the enrichment of 19 genes, of which 9 of these did not encode thick/intermediate and thin myofilament (TTm) proteins and, among them, 3 responsible of HCM phenocopy, was created...
October 2016: International Journal of Molecular Medicine
Christina Kehrer, Alexander Hoischen, Ralf Menkhaus, Eva Schwab, Andreas Müller, Sarah Kim, Martina Kreiß, Valerie Weitensteiner, Alina Hilger, Christoph Berg, Anne Geipel, Heiko Reutter, Ulrich Gembruch
OBJECTIVE: Simpson-Golabi-Behmel (SGBS) syndrome type 1 and type 2 represent rare X-linked prenatal overgrowth disorders. The aim of our study is to describe the prenatal sonographic features as well as the genetic work-up. METHOD: Retrospective analysis of four cases with a pre- or postnatal diagnosis of SGBS in a single tertiary referral center within a period of 4 years. RESULTS: In the study period, four male fetuses with SGBS were detected...
October 2016: Prenatal Diagnosis
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