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https://www.readbyqxmd.com/read/27904139/interphase-fluorescence-in-situ-hybridization-ifish-in-untreated-al-amyloidosis-has-an-independent-prognostic-impact-by-abnormality-type-and-treatment-category
#1
E Muchtar, A Dispenzieri, S K Kumar, R P Ketterling, D Dingli, M Q Lacy, F K Buadi, S R Hayman, P Kapoor, N Leung, R Chakraborty, W Gonsalves, R Warsame, T V Kourelis, S Russell, J A Lust, Y Lin, R S Go, S Zeldenrust, R A Kyle, S V Rajkumar, M A Gertz
The significance of interphase fluorescence in-situ hybridization (iFISH) by regimen type was assessed in 692 AL amyloidosis patients with iFISH at diagnosis. First line treatment was categorized as stem cell transplant and three non-transplant regimens. The most common abnormality was t(11;14) (49% of patients) followed by monosomy 13/del(13q) (36%) and trisomies (26%). A lower rate of very good partial response (VGPR) or better was observed in patients with t(11;14) treated with bortezomib-based (52 vs 77%; P=0...
December 1, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27900408/prevalence-and-risk-factors-for-pericardial-effusions-requiring-readmission-after-pediatric-cardiac-surgery
#2
Matthew D Elias, Andrew C Glatz, Matthew J O'Connor, Susan Schachtner, Chitra Ravishankar, Christoper E Mascio, Meryl S Cohen
Pericardial effusion (PE) may require readmission after cardiac surgery and has been associated with postoperative morbidity and mortality. We sought to identify the prevalence and risk factors for postoperative PE requiring readmission in children. A retrospective analysis of the Pediatric Health Information System database was performed between January 1, 2003, and September 30, 2014. All patients ≤18 years old who underwent cardiac surgery were identified by ICD-9 codes. Those readmitted within 1 year with an ICD-9 code for PE were identified...
November 30, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27900229/patient-perception-of-negative-noninvasive-prenatal-testing-results
#3
A Theresa Wittman, S Shahrukh Hashmi, Hector Mendez-Figueroa, Salma Nassef, Blair Stevens, Claire N Singletary
Objective To determine patient perception of residual risk after receiving a negative non-invasive prenatal testing result. Introduction Recent technological advances have yielded a new method of prenatal screening, non-invasive prenatal testing (NIPT), which uses cell-free fetal DNA from the mother's blood to assess for aneuploidy. NIPT has much higher detection rates and positive predictive values than previous methods however, NIPT is not diagnostic. Past studies have demonstrated that patients may underestimate the limitations of prenatal screening; however, patient perception of NIPT has not yet been assessed...
October 2016: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/27899089/familial-forms-of-disorders-of-sex-development-may-be-common-if-infertility-is-considered-a-comorbidity
#4
Raja Brauner, Flavia Picard-Dieval, Henri Lottmann, Sébastien Rouget, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey
BACKGROUND: Families with 46,XY Disorders of Sex Development (DSD) have been reported, but they are considered to be exceptionally rare, with the exception of the familial forms of disorders affecting androgen synthesis or action. The families of some patients with anorchia may include individuals with 46,XY gonadal dysgenesis. We therefore analysed a large series of patients with 46,XY DSD or anorchia for the occurrence in their family of one of these phenotypes and/or ovarian insufficiency and/or infertility and/or cryptorchidism...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27896246/quantitative-fluorescent-polymerase-chain-reaction-for-rapid-prenatal-diagnosis-of-fetal-aneuploidies-in-chorionic-villus-sampling-in-a-single-institution
#5
You Jung Shin, Jin Hoon Chung, Do Jin Kim, Hyun Mee Ryu, Moon Young Kim, Jung Yeol Han, June Seek Choi
OBJECTIVE: To validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies. METHODS: We retrospectively reviewed the medical records of consecutive pregnant women who had undergone CVS at Cheil General Hospital between December 2009 and June 2014. Only cases with reported QF-PCR before long-term culture (LTC) for conventional cytogenetic analysis were included, and the results of these two methods were compared...
November 2016: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/27894622/a-case-of-philadelphia-chromosome-positive-acute-lymphoblastic-leukemia-with-partial-trisomy-of-chromosome-1q-involving-chromosome-13-as-the-acceptor-a-novel-cytogenetic-finding
#6
Mohit Bharadwaj, Anurag Sharma, Rahul Katara, Dinesh Pradhan, Raman Arora, Reena Mittal, Sambit K Mohanty
The Philadelphia (Ph) chromosome is infrequently found in acute lymphoblastic leukemia and is associated with poor prognosis. We present a case of Ph chromosome positive B cell-acute lymphoblastic leukemia with the partial trisomy of chromosome 1q involving chromosome 13 as the acceptor which has never been reported in the English literature. Jumping translocation (JT) of chromosome 1 is rare and is associated with disease progression and poor prognosis. Herein, we report the first case of Ph chromosome positive B cell-acute lymphoblastic leukemia with coexisting jumping translocation of chromosome 1 leading to trisomy of chromosome 1q...
September 4, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27889980/-the-importance-of-free-nucleic-acids-in-the-non-invasive-diagnostics
#7
Bálint Nagy, Zoltán Csanádi, Róbert Póka
There is a great interest to determine the physiological role of "free" nucleic acids, and to use them in the clinical diagnostics. These could be DNA, mRNA, microRNA and long non-coding RNA molecules, they are in the body fluids, like serum, tear, saliva, etc. Their exact role in the normal and pathological physiological processes is still in the focus of the research, while their use in the diagnostics is becoming more and more important. The use of "free" DNA in the non-invasive prenatal diagnosis is the first clinical application of the new generation sequencers, these methods are able to reach 99...
November 2016: Orvosi Hetilap
https://www.readbyqxmd.com/read/27889902/establishment-and-characterization-of-a-novel-uterine-carcinosarcoma-cell-line-tu-ecs-1-with-mutations-of-tp53-and-kras
#8
Yohei Chiba, Seiya Sato, Hiroaki Itamochi, Yasuko Suga, Tomoyuki Fukagawa, Nao Oumi, Tetsuro Oishi, Tasuku Harada, Tamotsu Sugai, Toru Sugiyama
A new human uterine carcinosarcoma (UCS) cell line, TU-ECS-1, was established and characterized. The morphological appearance of the cultured cells was an insular of epithelial-like cells arranged in the form of a jigsaw puzzle and mesenchymal-like cells with a spindle-shaped or fibroblast-like morphology. A relatively high proliferation rate was observed with a doubling time of 18.2 h. The chromosome number ranged from 44 to 49 and had an extra chromosome 12 (trisomy 12). The respective half-maximal inhibitory concentrations of cisplatin, paclitaxel, and doxorubicin were 2...
November 26, 2016: Human Cell
https://www.readbyqxmd.com/read/27889224/fetal-megacystis-a-systematic-review
#9
REVIEW
K Taghavi, C Sharpe, M D Stringer
: Fetal megacystis is variably defined and understood. The literature on fetal megacystis was systematically reviewed, focusing on prenatal diagnosis, associations and outcomes. This yielded a total of 18 primary references and eight secondary references. Fetal megacystis has an estimated first-trimester prevalence of between 1:330 and 1:1670, with a male to female ratio of 8:1. In the first trimester, megacystis is most commonly defined as a longitudinal bladder dimension of ≥7 mm...
October 8, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27888703/the-association-between-prenatal-atrioventricular-septal-defects-and-chromosomal-abnormalities
#10
Maddalena Morlando, Amarnath Bhide, Alessandra Familiari, Asma Khalil, José Morales-Roselló, Aris T Papageorghiou, Julene S Carvalho
OBJECTIVE: Atrioventricular septal defect is associated with a high risk of a chromosomal abnormality, particularly trisomy 21. The aim of this study is to assess the rate of trisomy 21 in fetuses diagnosed with an atrioventricular septal defect and to examine the influence of prior screening on the rate of trisomy 21. METHODS: Electronic ultrasound database was searched to identify fetuses diagnoses with an atrioventricular septal defect from 2002 to 2014. Rate of trisomy 21 and other aneuploidies was calculated among fetuses with normal situs...
October 29, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/27885349/chronic-lymphocytic-leukemia-with-translocation-2-14-p16-q32-a-case-report-and-review-of-the-literature
#11
Francisco Socola, Giovanni Insuasti-Beltran, Rodolfo Henrich Lobo, Shebli Atrash, Appalanaidu Sasapu
We report the case of a young African American male with no significant past medical history presenting with low back and bilateral leg pain; presenting CBC and chemistries revealed elevated white blood cell count of 250,000, with anemia (Hb 6.8 g/dL) and thrombocytopenia (platelets 9 K/μL), and elevated LDH, 1008. Physical examination findings were notable for diffuse lymphadenopathy and lower extremity skin nodules. Interestingly the bone marrow biopsy revealed involvement by CLL/SLL with translocation (2;14)(p16;q32) and trisomy 12...
2016: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/27882407/a-novel-system-for-correcting-large-scale-chromosomal-aberrations-ring-chromosome-correction-via-reprogramming-into-induced-pluripotent-stem-cell-ipsc
#12
REVIEW
Taehyun Kim, Kathleen Plona, Anthony Wynshaw-Boris
Approximately 1 in 500 newborns are born with chromosomal abnormalities that include trisomies, translocations, large deletions, and duplications. There is currently no therapeutic approach for correcting such chromosomal aberrations in vivo or in vitro. When we attempted to produce induced pluripotent stem cell (iPSC) models from patient-derived fibroblasts that contained ring chromosomes, we found that the ring chromosomes were eliminated and replaced by duplicated normal copies of chromosomes through a mechanism of uniparental isodisomy (Bershteyn et al...
November 23, 2016: Chromosoma
https://www.readbyqxmd.com/read/27873105/newborn-screening-for-severe-primary-immunodeficiency-diseases-in-sweden-a-2-year-pilot-trec-and-krec-screening-study
#13
Michela Barbaro, Annika Ohlsson, Stephan Borte, Susanne Jonsson, Rolf H Zetterström, Jovanka King, Jacek Winiarski, Ulrika von Döbeln, Lennart Hammarström
Newborn screening for severe primary immunodeficiencies (PID), characterized by T and/or B cell lymphopenia, was carried out in a pilot program in the Stockholm County, Sweden, over a 2-year period, encompassing 58,834 children. T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) were measured simultaneously using a quantitative PCR-based method on DNA extracted from dried blood spots (DBS), with beta-actin serving as a quality control for DNA quantity. Diagnostic cutoff levels enabling identification of newborns with milder and reversible T and/or B cell lymphopenia were also evaluated...
November 21, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27870946/conserved-hierarchical-gain-of-chromosome-4-is-an-independent-prognostic-factor-in-high-hyperdiploid-pediatric-acute-lymphoblastic-leukemia
#14
Á Vojcek, G Pajor, D Alpár, R Mátics, L Pótó, K Szuhai, L Pajor
BACKGROUND: High hyperdiploid (HeH) pre-B pediatric acute lymphoblastic leukemia (B-pALL) is known to be heterogeneous by prognosis, but the stratification principals according to conventional cytogenetic analysis (CCA) are equivocal. PROCEDURE: Untreated bone marrow samples of 214 B-pALL patients were previously classified according to the modal numbers (iMN8) based on the gains of the chromosomes 4, 6, 10, 14, 17, 18, 21, and X as revealed by consecutive and correlated 2×4 color interphase fluorescence in situ hybridization, and at least five years of follow up data were analyzed...
November 11, 2016: Leukemia Research
https://www.readbyqxmd.com/read/27867340/changing-paradigms-in-down-syndrome-the-first-international-conference-of-the-trisomy-21-research-society
#15
Jean-Maurice Delabar, Bernadette Allinquant, Diana Bianchi, Tom Blumenthal, Alain Dekker, Jamie Edgin, John O'Bryan, Mara Dierssen, Marie-Claude Potier, Frances Wiseman, Faycal Guedj, Nicole Créau, Roger Reeves, Katheleen Gardiner, Jorge Busciglio
Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) in humans with an incidence of ∼1:1,000 live births worldwide. It is caused by the presence of an extra copy of all or a segment of the long arm of human chromosome 21 (trisomy 21). People with DS present with a constellation of phenotypic alterations involving most organs and organ systems. ID is present in all people with DS, albeit with variable severity. DS is also the most frequent genetic cause of Alzheimer's disease (AD), and ∼50% of those with DS will develop AD-related dementia...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27861736/real-world-clinical-experience-in-the-connect-%C3%A2-chronic-lymphocytic-leukaemia-registry-a-prospective-cohort-study-of-1494-patients-across-199-us-centres
#16
Anthony Mato, Chadi Nabhan, Neil E Kay, Mark A Weiss, Nicole Lamanna, Thomas J Kipps, David L Grinblatt, Ian W Flinn, Mark F Kozloff, Christopher R Flowers, Charles M Farber, Pavel Kiselev, Arlene S Swern, Kristen Sullivan, E Dawn Flick, Jeff P Sharman
The clinical course of chronic lymphocytic leukaemia (CLL) is heterogeneous, and treatment options vary considerably. The Connect(®) CLL registry is a multicentre, prospective observational cohort study that provides a real-world perspective on the management of, and outcomes for, patients with CLL. Between 2010 and 2014, 1494 patients with CLL and that initiated therapy, were enrolled from 199 centres throughout the USA (179 community-, 17 academic-, and 3 government-based centres). Patients were grouped by line of therapy at enrolment (LOT)...
November 8, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27859447/the-co-occurrence-of-down-syndrome-and-autism-spectrum-disorder-is-it-because-of-additional-genetic-variations
#17
Angela L Rachubinski, Susan Hepburn, Ellen R Elias, Katheleen Gardiner, Tamim H Shaikh
Individuals with Down syndrome (DS) are diagnosed with autism spectrum disorder (ASD) at a significantly higher frequency than the typical population. The differentiation of ASD symptoms from those of severe intellectual disability presents diagnostic challenges, which have led to more refined methods in the clinical evaluation of ASD in DS. These improved phenotypic characterization methods not only provide better diagnosis of ASD in DS, but may also be useful in elucidating the etiology of the increased prevalence of ASD in DS...
November 17, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27858187/duodeno-duodenostomy-or-duodeno-jejunostomy-for-duodenal-atresia-is-one-repair-better-than-the-other
#18
Augusto Zani, Jung-Pin Benjamin Yeh, Sebastian K King, Priscilla P L Chiu, Paul W Wales
PURPOSE: The surgical management of neonates with duodenal atresia (DA) involves re-establishment of intestinal continuity, either by duodeno-duodenostomy (DD) or by duodeno-jejunostomy (DJ). Although the majority of pediatric surgeons perform DD repair preferentially, we aimed to analyze the outcome of DA neonates treated with either surgical technique. METHODS: Following ethical approval (REB:1000047737), we retrospectively reviewed the charts of all patients who underwent DA repair between 2004 and 2014...
November 17, 2016: Pediatric Surgery International
https://www.readbyqxmd.com/read/27856135/a-fresh-look-at-aging-proteins
#19
Reiner A Veitia
Recent analyses of the degradation profiles of thousands of proteins by McShane et al. have shown that many proteins are less stable during the hours following their synthesis. Many of such nonexponentially degraded (NED) proteins are components of macromolecular complexes. This may explain why, in cases of trisomy, the effect of overexpression can be attenuated.
November 14, 2016: Trends in Biochemical Sciences
https://www.readbyqxmd.com/read/27855394/prenasal-thickness-prefrontal-space-ratio-and-other-facial-profile-markers-in-first-trimester-fetuses-with-aneuploidies-cleft-palate-and-micrognathia
#20
Merel Bakker, Margherita Pace, Els de Jong-Pleij, Erwin Birnie, Karl-Oliver Kagan, Caterina M Bilardo
OBJECTIVE: To investigate the feasibility and reproducibility of the prenasal thickness (PNT)/nasal bone length (NBL) ratio, maxilla-nasion-mandible (MNM) angle, facial profile line, profile line distance, and prefrontal space ratio (PFSR) in the first trimester of pregnancy, develop normal ranges, and evaluate these markers in abnormal fetuses. METHODS: All measurements were performed on stored images by two operators. Feasibility, interoperator agreement, and prediction intervals were calculated for all measurements...
November 18, 2016: Fetal Diagnosis and Therapy
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