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https://www.readbyqxmd.com/read/27762221/human-metapneumovirus-in-haematopoietic-stem-cell-transplantation-recipients-a-case-series-and-review-of-the-diagnostic-and-therapeutic-approach
#1
B P C Hoppe, E de Jongh, A Griffioen-Keijzer, J M Zijlstra-Baalbergen, E P F IJzerman, F Baboe
Human metapneumovirus (hMPV) is a paramyxovirus that causes respiratory tract infections ranging from mild upper airway infection to severe pneumonia. Patients with haematological disease, especially haematopoietic stem cell transplantation (HSCT) recipients, are more likely to develop more severe infections. We describe three cases of hMPV infection in HSCT patients. The most reliable diagnostic procedure for hMPV is multiplex ligation-dependent probe amplification (MLPA) on a nasopharyngeal swab. Sensitivity and specificity of MLPA to detect hMPV is high and time to diagnosis is short...
October 2016: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/27707671/cytogenetics-in-the-management-of-children-and-adult-acute-lymphoblastic-leukemia-all-an-update-by-the-groupe-francophone-de-cytog%C3%A3-n%C3%A3-tique-h%C3%A3-matologique-gfch
#2
Laurence Baranger, Wendy Cuccuini, Christine Lefebvre, Isabelle Luquet, Christine Perot, Isabelle Radford, Marina Lafage-Pochitaloff
Cytogenetic analyses (karyotype and, if necessary, appropriate complementary FISH analyses) are mandatory at diagnosis in acute lymphoblastic leukemia (ALL) as their results are taken into account in therapeutic protocols due to their diagnostic and prognostic values. In some cases, karyotype can be completed by other techniques (RT-PCR, RQ-PCR, DNA content, SNP-array, MLPA…) that can be equally or more informative than FISH. Here, we have tempted to establish guidelines concerning karyotype and FISH analyses according to the most recent data of the litterature which is reviewed here, completing the 2008 WHO classification with the recent new cytogenomic entities such as Ph-like ALL and indicating possible therapeutic implications...
October 1, 2016: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/27604558/identification-of-15-novel-partial-shox-deletions-and-13-partial-duplications-and-a-review-of-the-literature-reveals-intron-3-to-be-a-hotspot-region
#3
Sara Benito-Sanz, Alberta Belinchon-Martínez, Miriam Aza-Carmona, Carolina de la Torre, Celine Huber, Isabel González-Casado, Judith L Ross, N Simon Thomas, Andrew R Zinn, Valerie Cormier-Daire, Karen E Heath
Short stature homeobox gene (SHOX) is located in the pseudoautosomal region 1 of the sex chromosomes. It encodes a transcription factor implicated in the skeletal growth. Point mutations, deletions or duplications of SHOX or its transcriptional regulatory elements are associated with two skeletal dysplasias, Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD), as well as in a small proportion of idiopathic short stature (ISS) individuals. We have identified a total of 15 partial SHOX deletions and 13 partial SHOX duplications in LWD, LMD and ISS patients referred for routine SHOX diagnostics during a 10 year period (2004-2014)...
September 8, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27467201/a-clinical-and-molecular-genetic-study-in-11-chinese-children-with-peutz-jeghers-syndrome
#4
Bixia Zheng, Chunli Wang, Zhanjun Jia, Zhifeng Liu, Mei Li, Yu Jin, Jian Pan
AIM: Peutz-Jeghers syndrome (PJS) is caused by the germline mutations in serine/threonine kinase 11 (STK11) gene. This study was to investigate the spectrum ofSTK11 gene mutations using multiplex ligation-dependent probe amplification (MLPA) assay in combination of direct sequencing in Chinese children with PJS. METHODS: Nine children who met the clinical criteria for PJS and two presumed PJS patients were enrolled in this study. Patients' clinical information on polyp characteristics, polyp-related complications, family histories, etc were reviewed and analyzed...
June 21, 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/27356182/small-cell-undifferentiated-scud-hepatoblastomas-all-malignant-rhabdoid-tumors
#5
Christian Vokuhl, Florian Oyen, Beate Häberle, Dietrich von Schweinitz, Reinhard Schneppenheim, Ivo Leuschner
Small cell undifferentiated (SCUD) hepatoblastoma is a rare variant of hepatoblastoma with poor outcome and loss of INI1 expression, sharing this with malignant rhabdoid tumors (MRT). We studied all tumors from the files of the Kiel Pediatric Tumor Registry (KTR) with the initial diagnosis of SCUD and MRT. After re-review, we performed immunistochemistry, fluorescence in situ hybridization, and multiplex ligation dependent probe amplification for loss of expression and deletion of INI1/SMARCB1 in 23 tumors...
June 29, 2016: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/27185867/molecular-cyp21a2-diagnosis-in-480-brazilian-patients-with-congenital-adrenal-hyperplasia-before-newborn-screening-introduction
#6
Daniel F de Carvalho, Mirela C Miranda, Larissa G Gomes, Guiomar Madureira, José A M Marcondes, Ana Elisa C Billerbeck, Andresa S Rodrigues, Paula F Presti, Hilton Kuperman, Durval Damiani, Berenice B Mendonca, Tania A S S Bachega
BACKGROUND: Most congenital adrenal hyperplasia (CAH) patients carry CYP21A2 mutations derived from conversion events involving the pseudogene, and the remaining carry new mutations. OBJECTIVE: To review causal mutations and genotype-phenotype correlation in 480 Brazilian patients. METHODS: DNA was extracted from 158 salt-wasters (SWs), 116 simple virilizing (SV), and 206 nonclassical (NC) patients. Fourteen point mutations were screened by allele-specific PCR, large rearrangements by Southern blotting/MLPA, and sequencing was performed in those with incomplete genotype...
August 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27171825/bilateral-diffuse-uveal-melanocytic-proliferation-molecular-genetic-analysis-of-a-case-and-review-of-the-literature
#7
Ruchi Mittal, Svetlana Cherepanoff, Sophie Thornton, Helen Kalirai, Bertil Damato, Sarah E Coupland
PURPOSE OF THE STUDY: To describe the clinicopathological features, mutational and chromosomal copy number analysis, and 8-year follow-up of a case of bilateral diffuse uveal melanocytic proliferation (BDUMP) associated with clear-cell carcinoma of the endometrium. METHODS: Histological evaluation, multiplex ligation-dependent probe amplification (MLPA) analysis and GNAQ/11 mutational analysis were performed in a 67-year-old female patient with the diagnosis of BDUMP...
December 2015: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/27098748/genetic-findings-in-treatment-na%C3%A3-ve-and-proton-beam-radiated-iris-melanomas
#8
Yamini Krishna, Helen Kalirai, Sophie Thornton, Bertil E Damato, Heinrich Heimann, Sarah E Coupland
BACKGROUND/AIMS: Iris melanomas (IM) are rare and have a lower mortality than posterior uveal melanomas (UM). Our aims were to determine the prevalence of genetic changes associated with prognosis of posterior UM, in both treated and non-treated IM. METHODS: Retrospective database review and molecular analysis of all patients diagnosed with IM at the Liverpool Ocular Oncology Centre (LOOC) between 1993 and 2015. Archival pathology specimens of confirmed IM cases were analysed for chromosomal alterations, using multiplex ligation-dependent probe amplification (MLPA) or microsatellite analysis (MSA) depending on DNA yield, and BRAF mutation status...
April 20, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/26968818/mutational-spectrum-of-duchenne-muscular-dystrophy-in-spain-study-of-284-cases
#9
I Vieitez, P Gallano, L González-Quereda, S Borrego, I Marcos, J M Millán, T Jairo, C Prior, J Molano, M J Trujillo-Tiebas, J Gallego-Merlo, M García-Barcina, M Fenollar, C Navarro
INTRODUCTION: Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disease that affects one in 3500 live-born males. The total absence of dystrophin observed in DMD patients is generally caused by mutations that disrupt the reading frame of the DMD gene, and about 80% of cases harbour deletions or duplications of one or more exons. METHODS: We reviewed 284 cases of males with a genetic diagnosis of DMD between 2007 and 2014. These patients were selected from 8 Spanish reference hospitals representing most areas of Spain...
March 8, 2016: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/26893599/identification-of-1p36-deletion-syndrome-in-patients-with-facial-dysmorphism-and-developmental-delay
#10
Go Hun Seo, Ja Hye Kim, Ja Hyang Cho, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
PURPOSE: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. METHODS: The clinical characteristics of the 5 patients were reviewed...
January 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/26875463/-significance-of-ikaros-family-zinc-finger-1-deletion-in-pediatric-b-acute-lymphoblastic-leukemia-without-reproducible-cytogenetic-abnormalities
#11
Xiaoming Liu, Li Zhang, Yao Zou, Lixian Chang, Wei Wei, Min Ruan, Yumei Chen, Wenyu Yang, Xiaojuan Chen, Ye Guo, Shuchun Wang, Tianfeng Liu, Jiayuan Zhang, Fang Liu, Benquan Qi, Wenbin An, Xiaofan Zhu
OBJECTIVE: To identify ikaros family zinc finger1 (IKZF1) deletion in patients with pediatric B cells-acute lymphoblastic leukemia (B-ALL) without reproducible chromosomal abnomalities and further investigate its value in this part of patients' pathogenesis and prognosis. METHOD: The study was approved by the institutional review board of the authors' hospital and informed consent was obtained from the patients and/or their legal guardians. Data of 96 children with B-ALL patients without reproducible cytogenetic abnormalities whose bone marrows specimens were enough for DNA extraction for the detection were retrospectively selected...
February 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/26849454/duane-retraction-syndrome-in-a-patient-with-duchenne-muscular-dystrophy
#12
Thomas M Bosley, Mustafa A Salih, Hisham Alkhalidi, Darren T Oystreck, Heba Y El Khashab, Altaf A Kondkar, Khaled K Abu-Amero
PURPOSE: We describe the clinical features of a boy with bilateral Duane retraction syndrome (DRS), Duchenne muscular dystrophy (DMD), and other medical problems. METHODS: The child was followed-up for five years; his chart was reviewed, including the results of a muscle biopsy and genetic testing. Multiplex ligation-dependent probe amplification (MLPA) was used to interrogate deletions/duplications in the dystrophin gene. RESULTS: The proband had bilateral DRS with otherwise normal ocular motility; he also had developmental delay, mild mental retardation, and seizures...
September 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/26743743/pitfalls-of-multiple-ligation-dependent-probe-amplifications-in-detecting-dmd-exon-deletions-or-duplications
#13
Man Jin Kim, Sung Im Cho, Jong-Hee Chae, Byung Chan Lim, Jee-Soo Lee, Seung Jun Lee, Soo Hyun Seo, Hyunwoong Park, Anna Cho, So Yeon Kim, Ji Yeon Kim, Sung Sup Park, Moon-Woo Seong
Multiple ligation-dependent probe amplifications (MLPAs) are a key technology for the molecular diagnosis of Duchenne/Becker muscular dystrophy, which is mainly caused by large gene arrangements. However, little is known about the false-positive rates of MLPA for this disease. Here, we review MLPA analysis results from 398 patients suspected to have Duchenne/Becker muscular dystrophy. MLPA assay was used for screening the entire coding region. If these amplifications produced normal results, direct sequencing was performed to search for sequence variations and to determine single-exon deletions, duplications, or indeterminate results...
March 2016: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/26578219/-22q11-2ds-syndrome-as-a-genetic-subtype-of-schizophrenia
#14
REVIEW
Cindy Katherin Huertas-Rodríguez, César Payán-Gómez, Ruth Maribel Forero-Castro
INTRODUCTION: The 22q11.2 deletion syndrome (22q11.2DS) is associated with the microdeletion of this chromosomal region, and represents the second most common genetic syndrome after Down's syndrome. In patients with schizophrenia, 22q11.2DS has a prevalence of 2%, and in selected groups can be increased to between 32-53%. OBJECTIVE: To describe the generalities of 22q11.2DS syndrome as a genetic subtype of schizophrenia, its clinical characteristics, molecular genetic aspects, and frequency in different populations...
January 2015: Revista Colombiana de Psiquiatría
https://www.readbyqxmd.com/read/26566760/craniosynostosis-in-10q26-deletion-patients-a-consequence-of-brain-underdevelopment-or-altered-suture-biology
#15
Ágatha Cristhina Faria, Eliete Rabbi-Bortolini, Maria R G O Rebouças, Andréia L A de S Thiago Pereira, Milena G Tonini Frasson, Rodrigo Atique, Naila Cristina V Lourenço, Carla Rosenberg, Gerson S Kobayashi, Maria Rita Passos-Bueno, Flávia Imbroisi Valle Errera
Approximately a hundred patients with terminal 10q deletions have been described. They present with a wide range of clinical features always accompanied by delayed development, intellectual disability and craniofacial dysmorphisms. Here, we report a girl and a boy with craniosynostosis, developmental delay and other congenital anomalies. Karyotyping and molecular analysis including Multiplex Ligation dependent probe amplification (MLPA) and Array Comparative Genomic Hybridization (aCGH) were performed in both patients...
February 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26542297/submicroscopic-copy-number-variations-associated-with-46-xy-disorders-of-sex-development
#16
Masafumi Kon, Maki Fukami
BACKGROUND: Mutations in known causative genes and cytogenetically detectable chromosomal rearrangements account for a fraction of cases with 46,XY disorders of sex development (DSD). Recent advances in molecular cytogenetic technologies, including array-based comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA), have enabled the identification of copy-number variations (CNVs) in individuals with apparently normal karyotypes. FINDINGS: This review paper summarizes the results of 15 recent studies, in which aCGH or MLPA were used to identify CNVs...
December 2015: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/26514459/meningeal-hemangiopericytomas-and-meningomas-a-comparative-immunohistochemical-and-genetic-study
#17
COMPARATIVE STUDY
Saoussen Trabelsi, Nadia Mama, Maroua Chourabi, Maroua Haddaji Mastouri, Mohamed Ladib, Sergey Popov, Anna Burford, Moncef Mokni, Kalthoum Tlili, Hedi Krifa, Chris Jones, Mohamed Tahar Yacoubi, Ali Saad, Dorra H'mida-Ben Brahim
BACKGROUND: The meningeal hemangiopericytoma (MHPC) is a vascular tumor arising from pericytes. Most intracranial MHPCs resemble meningiomas (MNGs) in their clinical presentation and histological features and may therefore be misdiagnosed, despite important differences in prognosis. MATERIALS AND METHODS: We report 8 cases of MHPC and 5 cases of MNG collected from 2007 to 2011 from the Neuro-Surgery and Histopathology departments. All 13 samples were re reviewed by two independent pathologists and investigated by immunohistochemistry (IHC) using mesenchymal, epithelial and neuro-glial markers...
2015: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/26120363/cytogenomic-delineation-and-clinical-follow-up-of-10-brazilian-patients-with-pallister-killian-syndrome
#18
Larissa Sampaio de Athayde Costa, Aline C Zandona-Teixeira, Marilia M Montenegro, Alexandre T Dias, Roberta L Dutra, Rachel S Honjo, Debora R Bertola, Leslie D Kulikowski, Chong A Kim
BACKGROUND: Pallister-Killian syndrome (PKS) is a sporadic genetic disorder caused by the presence of a tissue-specific mosaicism for isochromosome 12p - i(12) (p10) and is characterized by facial dysmorphism including coarse facies, upslanting palpebral fissures, bitemporal alopecia, pigmentary skin anomalies, developmental delay, hypotonia and seizures. Although typical clinical features of PKS commonly exist, clinicians often do not raise the possibility of this diagnosis. RESULTS: We reviewed the medical records of 10 patients with confirmed PKS followed in our service (since 1990 to 2015)...
2015: Molecular Cytogenetics
https://www.readbyqxmd.com/read/26069167/comparison-of-two-subtelomeric-assays-for-the-screening-of-chromosomal-rearrangements-analysis-of-383-patients-literature-review-and-further-recommendations
#19
Lorena Santa María, Víctor Faundes, Bianca Curotto, Paulina Morales, Karla Morales, Solange Aliaga, Ángela Pugin, María Angélica Alliende
Intellectual disability (ID) and global development delay (GDD) are caused by genetic factors such as subtelomeric rearrangements (SR) in 25 % of patients. There are several assays currently available to detect SR, but subtelomeric fluorescence in situ hybridisation (Subt-FISH) and subtelomeric multiplex ligation-dependent probe amplification (Subt-MLPA) have been the most frequently used. However, the diagnostic yield of each technique has not been compared. We reviewed the results of SR screening over a ten-year period in Chilean patients with ID/GDD using Subt-FISH and/or Subt-MLPA, compared the diagnostic yield of both tools and reviewed the corresponding literature...
February 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/26062604/-down-syndrome-an-insight-of-the-disease
#20
REVIEW
Ambreen Asim, Ashok Kumar, Srinivasan Muthuswamy, Shalu Jain, Sarita Agarwal
Down syndrome (DS) is one of the commonest disorders with huge medical and social cost. DS is associated with number of phenotypes including congenital heart defects, leukemia, Alzeihmer's disease, Hirschsprung disease etc. DS individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. In the present review article, we emphasize an overview of DS, DS-associated phenotypes diagnosis and management of the disease. The genes or miRNA involved in Down syndrome associated Alzheimer's disease, congenital heart defects (AVSD), leukemia including AMKL and ALL, hypertension and Hirschprung disease are discussed in this article...
2015: Journal of Biomedical Science
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