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[PMID]: 29523805
[Au] Autor:Pawlikowski B; Betta ND; Elston T; Williams DA; Olwin BB
[Ad] Address:Department of Molecular, Cellular and Developmental Biology, University of Colorado, 347 UCB, Boulder, CO, 80309, United States.
[Ti] Title:Muscle stem cell dysfunction impairs muscle regeneration in a mouse model of Down syndrome.
[So] Source:Sci Rep;8(1):4309, 2018 Mar 09.
[Is] ISSN:2045-2322
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Down syndrome, caused by trisomy 21, is characterized by a variety of medical conditions including intellectual impairments, cardiovascular defects, blood cell disorders and pre-mature aging phenotypes. Several somatic stem cell populations are dysfunctional in Down syndrome and their deficiencies may contribute to multiple Down syndrome phenotypes. Down syndrome is associated with muscle weakness but skeletal muscle stem cells or satellite cells in Down syndrome have not been investigated. We find that a failure in satellite cell expansion impairs muscle regeneration in the Ts65Dn mouse model of Down syndrome. Ts65Dn satellite cells accumulate DNA damage and over express Usp16, a histone de-ubiquitinating enzyme that regulates the DNA damage response. Impairment of satellite cell function, which further declines as Ts65Dn mice age, underscores stem cell deficiencies as an important contributor to Down syndrome pathologies.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:In-Data-Review
[do] DOI:10.1038/s41598-018-22342-5

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[PMID]: 28449648
[Au] Autor:Oxenford K; Daley R; Lewis C; Hill M; Chitty LS
[Ad] Address:Fetal Medicine Unit, University College London Hospitals NHS Foundation Trust, London, UK.
[Ti] Title:Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study.
[So] Source:BMC Pregnancy Childbirth;17(1):132, 2017 04 27.
[Is] ISSN:1471-2393
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: The availability of non-invasive prenatal testing (NIPT) for aneuploidies is expanding rapidly throughout the world. Training health professionals to offer NIPT in a way that supports informed choice is essential for implementation. The aim of this study was to develop and evaluate a training package for health professionals to support the introduction of NIPT into clinical practice. METHODS: Training on NIPT was offered to health professionals, primarily midwives, involved in Down syndrome screening and testing in eight hospitals located in England and Scotland as part of a research study evaluating the implementation of NIPT in the UK National Health Service. Training was evaluated using a mixed methods approach that included quantitative questionnaires at three time points and post-training qualitative interviews. The questionnaires measured confidence, self-perceived knowledge and actual knowledge about NIPT for Down syndrome. Interviews explored opinions about the training and experiences of offering NIPT. RESULTS: The training provided to the health professionals was found to positively impact on their confidence in discussing NIPT with women in their clinic, and both their perceived and actual knowledge and understanding of NIPT was improved. Knowledge remained weak in four areas; cell-free fetal DNA levels increase with gestation; turnaround time for NIPT results; cell-free fetal DNA is placental in origin; and NIPT false positive rate. CONCLUSIONS: Training materials, including a lesson plan, PowerPoint presentation and written factsheet on NIPT, have been developed and evaluated for use in educating midwives and supporting the introduction of NIPT. Implementation of training should include a greater focus on the areas where knowledge remained low. Some groups of midwives will need additional training or support to optimise their confidence in discussing NIPT with women.
[Mh] MeSH terms primary: Counseling/education
Down Syndrome/diagnosis
Health Personnel/education
Prenatal Diagnosis/psychology
Teaching
[Mh] MeSH terms secundary: Adult
Aneuploidy
Counseling/methods
Female
Humans
Male
Middle Aged
Pregnancy
Prenatal Diagnosis/methods
Qualitative Research
Surveys and Questionnaires
[Pt] Publication type:EVALUATION STUDIES; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:170429
[St] Status:MEDLINE
[do] DOI:10.1186/s12884-017-1315-7

  3 / 38710 MEDLINE  
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[PMID]: 29507621
[Au] Autor:Feng C; He Z; Cai B; Peng J; Song J; Yu X; Sun Y; Yuan J; Zhao X; Zhang Y
[Ad] Address:Department of Obstetrics and Gynechology, Zhongnan Hospital of Wuhan University, Wuhan, Hubei, 430071, China.
[Ti] Title:Non-invasive Prenatal Diagnosis of Chromosomal Aneuploidies and Microdeletion Syndrome Using Fetal Nucleated Red Blood Cells Isolated by Nanostructure Microchips.
[So] Source:Theranostics;8(5):1301-1311, 2018.
[Is] ISSN:1838-7640
[Cp] Country of publication:Australia
[La] Language:eng
[Ab] Abstract:Detection of detached fetal nucleated red blood cells (fNRBCs) in the maternal peripheral blood may serve as a prospective testing method competing with the cell-free DNA, in non-invasive prenatal testing (NIPT). Herein, we introduce a facile and effective lab-on-a-chip method of fNRBCs detection using a capture-releasing material that is composed of biotin-doped polypyrrole nanoparticles. To enhance local topographic interactions between the nano-components and fNRBC, a specific antibody, CD147, coated on the nanostructured substrate led to the isolation of fNRBCs from maternal peripheral blood. Subsequently, an electrical system was employed to release the captured cells using 0.8 V for 15 s. The diagnostic application of fNRBCs for fetal chromosomal disorders (Trisomy 13/21/18/X syndrome, microdeletion syndrome) was demonstrated. Cells captured by nanostructured microchips were identified as fNRBCs. Twelve cases of chromosomal aneuploidies and one case of 18q21 microdeletion syndrome were diagnosed using the fNRBCs released from the microchips. Our method offers effective and accurate analysis of fNRBCs for comprehensive NIPT to monitor fetal cell development.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.7150/thno.21979

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[PMID]: 29481579
[Au] Autor:Lee WY; Weinberg OK; Evans AG; Pinkus GS
[Ad] Address:Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.
[Ti] Title:Loss of Full-Length GATA1 Expression in Megakaryocytes Is a Sensitive and Specific Immunohistochemical Marker for the Diagnosis of Myeloid Proliferative Disorder Related to Down Syndrome.
[So] Source:Am J Clin Pathol;149(4):300-309, 2018 Mar 07.
[Is] ISSN:1943-7722
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Objectives: Myeloid proliferative disorders associated with Down syndrome (MPD-DS), including transient abnormal myelopoiesis and myeloid leukemia associated with Down syndrome (DS), harbor mutations of GATA1, a transcription factor essential for erythroid and megakaryocytic development. These mutations result in a N-terminally truncated GATA1 (GATA1s) and prohibit the production of the full-length GATA1 (GATA1f). Here, we demonstrate the utility of immunohistochemical GATA1f reactivity in diagnosing MPD-DS. Methods: Immunohistochemical studies for GATA1f expression were performed on bone marrow biopsy specimens. Results: In all cases of MPD-DS, megakaryocytes lacked GATA1f expression. In contrast, GATA1f expression was detected in megakaryocytes in all specimen types from patients without DS (normal bone marrows, pediatric myelodysplastic syndrome, juvenile myelomonocytic leukemia, adult acute megakaryocytic leukemia [pediatric and adult; without trisomy 2]), as well as normal bone marrows from patients with DS. Conclusions: The lack of GATA1f expression is a sensitive and specific immunohistochemical marker for MPD-DS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.1093/ajcp/aqy001

  5 / 38710 MEDLINE  
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[PMID]: 29517144
[Au] Autor:Takano M; Nakata M; Oji A; Nagasaki S; Umemura N; Maemura T; Morita M
[Ad] Address:Department of Obstetrics and Gynecology, Toho University Graduate School of Medicine, Tokyo, Japan.
[Ti] Title:Utility of fetal anteroposterior to transverse cerebellar diameter ratio to exclude cerebellar hypoplasia in trisomy 18.
[So] Source:J Obstet Gynaecol Res;, 2018 Mar 08.
[Is] ISSN:1447-0756
[Cp] Country of publication:Australia
[La] Language:eng
[Ab] Abstract:AIM: This study was aimed to determine reference ranges for fetal cerebellar hemisphere biometry, including the transverse cerebellar diameter (TCD), anteroposterior cerebellar diameter (APCD) and APCD/TCD ratio in normal fetuses. In addition, we investigated which parameter would be useful for cerebellar hypoplasia in trisomy 18. METHODS: This retrospective study included 340 normal singleton pregnancies and 15 cases of trisomy 18, in all of which fetal cerebellar biometry was performed between 14 and 40 weeks of gestational age (GA). The TCD, APCD and APCD/TCD ratio were assessed ultrasonographically. RESULTS: In normal fetuses, the TCD (r = 0.876, P < 0.001) and APCD (r = 0.791, P < 0.001) were strongly correlated with GA. However, the APCD/TCD ratio was not correlated with GA (r = 0.058, P = 0.289), with median values of 0.52. Low TCD, APCD and APCD/TCD ratio values were detected in 53%, 100% and 100% of trisomy 18 cases, respectively. The median APCD/TCD ratio for trisomy 18 was 0.39 (range, 0.30-0.43), which was significantly lower than that of normal fetuses (P < 0.001). A cut-off APCD/TCD ratio of 0.44 served as a good predictor for trisomy 18 (sensitivity 100%, specificity 95.3% and negative predictive value 100%). CONCLUSION: This study shows that TCD and APCD are correlated with GA, while the APCD/TCD ratio is a fixed value throughout gestation. Using the APCD/TCD ratio to assess cerebellar hypoplasia in trisomy 18 is useful because it does not require the individual evaluation of the TCD and APCD.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1111/jog.13632

  6 / 38710 MEDLINE  
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[PMID]: 29303233
[Au] Autor:García-Ferreyra J; Hilario R; Dueñas J
[Ad] Address:FERTILAB Laboratory of Assisted Reproduction, Lima, Peru.
[Ti] Title:High percentages of embryos with 21, 18 or 13 trisomy are related to advanced paternal age in donor egg cycles.
[So] Source:JBRA Assist Reprod;22(1):26-34, 2018 Mar 01.
[Is] ISSN:1518-0557
[Cp] Country of publication:Brazil
[La] Language:eng
[Ab] Abstract:OBJECTIVE: Advanced paternal age is related to poor sperm quality; however, little is known on its effect on aneuploidy embryo rates and, more importantly, on chromosomal abnormalities like trisomy 21, 18 and 13. The objective of this study was to evaluate the effect of advanced paternal age on the trisomy rates of the chromosomes 21, 18 or 13 in embryos obtained from donated oocytes. METHODS: A total of 378 embryos, obtained from 52 IVF/ICSI cycles with donated oocytes in conjunction with PGD, were allocated according to paternal age in three groups: Group A: ≤39 years (n=115 embryos), Group B: 40-49 years (n=157 embryos) and Group C: ≥50 year (n=106 embryos). Fertilization rates, embryo quality at day 3, blastocysts development, and aneuploidy embryo rates were then compared. RESULTS: There was no difference in seminal parameters (volume, concentration and motility) in the studied groups. Fertilization rate, percentages of zygotes that underwent cleavage, and good-quality embryos on Day 3 were similar between the three groups evaluated. The group of men ≥50 years had significantly more sperm with damaged DNA, higher global aneuploidy rates, and significantly more embryos with trisomy 21, 18 or 13 compared to the other two evaluated groups (p<0.05). CONCLUSIONS: Our data shows that advanced paternal age increases global chromosomal abnormalities, and percentages of trisomy 21, 18 or 13 in embryos, and such effect is significantly important as of the age of 50. Embryo genetic screening is highly recommended in patients in which paternal age is ≥50 years old.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.5935/1518-0557.20180004

  7 / 38710 MEDLINE  
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[PMID]: 29206983
[Au] Autor:Tarigopula A; Chandrashekar V; Govindasamy P
[Ad] Address:Department of Centralised Molecular Diagnostics, Apollo Hospitals, Chennai, India.
[Ti] Title:Cytogenetic Profiling of Myelomas, Association With Complete Blood Count: Study of 180 Patients.
[So] Source:Lab Med;49(1):68-74, 2017 Dec 22.
[Is] ISSN:1943-7730
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Objectives: To analyze the most common primary and secondary cytogenetic events in myelomas using a probe panel designed in our laboratory, and to associate those events with hematological and biochemical findings. Methods: Blood specimens from patients diagnosed with myeloma were processed to determine complete blood count and levels of albumin, creatinine, and beta-2 microglobulin. We evaluated bone-marrow specimens for plasma-cell percentage by light microscopy and for cytogenetic abnormalities by fluorescence in situ hybridization (FISH). The Mann-Whitney U test was used to compare hematological and biochemical parameters. Results: We observed immunoglobulin heavy chain (IgH) gene translocations in 43.3% and t(4;14) in 21% of specimens; t(11;14) was observed in 7.7% of specimens. Gain of chromosomes was observed in 67.2% and loss observed in 16.6% of specimens. Conclusions: Gains of chromosomes were observed in two-thirds of patients with myeloma. The most common IgH translocation was t(4;14); del13/monosomy13 was the most common secondary cytogenetic abnormality. Partial or complete tetrasomies were associated with higher beta-2 microglobulin levels.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Process
[do] DOI:10.1093/labmed/lmx066

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[PMID]: 28453807
[Au] Autor:Polimenakos AC; Subramanian S; ElZein C; Ilbawi MN
[Ad] Address:Division of Pediatric Cardiovascular Surgery, Advocate Children's Hospital, Oak Lawn, IL, USA.
[Ti] Title:Attrition in patients with single ventricle and trisomy 21: outcomes after a total cavopulmonary connection.
[So] Source:Interact Cardiovasc Thorac Surg;24(5):747-754, 2017 05 01.
[Is] ISSN:1569-9285
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:OBJECTIVES: Data are limited regarding the management of children with trisomy 21 (T21) syndrome and a functional single ventricle (FSV). We evaluated patients with T21 and a FSV who had a total cavopulmonary connection (TCPC). METHODS: From September 1999 to August 2012, 139 patients with a FSV underwent a TCPC. Sixty-five had unbalanced atrioventricular septal defect. Thirteen had T21. Three (of 13) had heterotaxy syndrome. The mean age at the Fontan operation was 27.6 ± 12.1 months. RESULTS: The initial procedure was pulmonary artery banding in 9 patients, systemic-to-pulmonary shunt in 2 and Damus-Kaye-Stansel/Norwood procedure in 2. Median follow-up was 69 months (interquartile range 25-75, 21-99). There was 1 death after a Damus-Kaye-Stansel/Norwood procedure and one interstage death after a bidirectional Glenn procedure. Nine (of 11) survivors underwent a Fontan operation. A fenestrated Fontan procedure was the predominate operation in 78%. One patient was deemed unsuitable for a Fontan operation. There was 1 takedown and 1 late death after the Fontan operation. Heterotaxy syndrome did not affect outcome ( P > 0.05). There was no statistical difference in the pre-Fontan McGoon ratio, hospital length of stay, duration of pleural drainage and Fontan-related adverse events between patients with a dominant right ventricle and those with a left ( P > 0.05). CONCLUSIONS: A TCPC in patients with T21 and an FSV is associated with reproducible, satisfactory outcomes. An assisted-Glenn procedure with pulsatile pulmonary blood flow and a fenestrated Fontan may be associated with attenuated perioperative morbidity and late attrition.
[Mh] MeSH terms primary: Abnormalities, Multiple
Down Syndrome/diagnosis
Heart Bypass, Right/methods
Heart Defects, Congenital/surgery
Heart Ventricles/abnormalities
Postoperative Complications/epidemiology
[Mh] MeSH terms secundary: Female
Follow-Up Studies
Heart Defects, Congenital/diagnosis
Heart Ventricles/surgery
Humans
Infant
Infant, Newborn
Male
Retrospective Studies
Survival Rate/trends
Time Factors
Treatment Outcome
United States/epidemiology
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[Js] Journal subset:IM
[Da] Date of entry for processing:170429
[St] Status:MEDLINE
[do] DOI:10.1093/icvts/ivw413

  9 / 38710 MEDLINE  
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[PMID]: 29501064
[Au] Autor:Thurtle DP; Huck MB; Zeller KA; Jewett T
[Ad] Address:Wake Forest School of Medicine, Medical Center Blvd, Winston Salem, NC, 27157, USA. dthurtle@wakehealth.edu.
[Ti] Title:Adenocarcinoma and polyposis of the colon in a 20-year-old patient with Trisomy 13: a case report.
[So] Source:J Med Case Rep;12(1):56, 2018 Mar 04.
[Is] ISSN:1752-1947
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Trisomy 13 is one of the most common autosomal trisomies, and although increasing in number, patients surviving past the neonatal period remain rare. The natural history and expected complications in these patients as they age remains unknown. Despite the rarity of this condition, unusual malignancies have been reported in the medical literature for decades. It is clear that providers should suspect unusual malignancies in these patients, particularly as they age. CASE PRESENTATION: We report a 20-year-old Caucasian woman with Trisomy 13 who presented with colonic volvulus, found to have colonic polyposis and adenocarcinoma of the colon. Genetics of pathology specimens revealed 47(XX) + 13 without other mutations. She underwent prophylactic completion colectomy due to presumed risk of colorectal cancers given underlying adenomatous polyposis. She has recovered well without evidence of recurrence. CONCLUSIONS: The presence of colonic polyposis and colorectal cancer without family history or known mutations for polyposis syndrome suggests an intrinsic predisposition toward colorectal cancer in this patient with Trisomy 13. Recent research into colorectal cancer oncogenes supports that aneuploidy or increased copy number of certain genes on chromosome 13 may increase the risk of malignant transformation. This is an important correlation for researchers studying these topics and clinicians caring for patients with Trisomy 13 as they age.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Process
[do] DOI:10.1186/s13256-018-1600-8

  10 / 38710 MEDLINE  
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[PMID]: 29285825
[Au] Autor:Hofmeister W; Pettersson M; Kurtoglu D; Armenio M; Eisfeldt J; Papadogiannakis N; Gustavsson P; Lindstrand A
[Ad] Address:Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
[Ti] Title:Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.
[So] Source:Hum Mutat;39(4):495-505, 2018 Apr.
[Is] ISSN:1098-1004
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Congenital malformations affecting the neural tube can present as isolated malformations or occur in association with other developmental abnormalities and syndromes. Using high-resolution copy number screening in 66 fetuses with neural tube defects, we identified six fetuses with likely pathogenic mutations, three aneuploidies (one trisomy 13 and two trisomy 18) and three deletions previously reported in NTDs (one 22q11.2 deletion and two 1p36 deletions) corresponding to 9% of the cohort. In addition, we identified five rare deletions and two duplications of uncertain significance including a rare intragenic heterozygous in-frame WDR63 deletion in a fetus with occipital encephalocele. Whole genome sequencing verified the deletion and excluded known pathogenic variants. The deletion spans exons 14-17 resulting in the expression of a protein missing the third and fourth WD-repeat domains. These findings were supported by CRISPR/Cas9-mediated somatic deletions in zebrafish. Injection of two different sgRNA-pairs targeting relevant intronic regions resulted in a deletion mimicking the human deletion and a concomitant increase of abnormal embryos with body and brain malformations (41%, n = 161 and 62%, n = 224, respectively), including a sac-like brain protrusion (7% and 9%, P < 0.01). Similar results were seen with overexpression of RNA encoding the deleted variant in zebrafish (total abnormal; 46%, n = 255, P < 0.001) compared with the overexpression of an equivalent amount of wild-type RNA (total abnormal; 3%, n = 177). We predict the in-frame WDR63 deletion to result in a dominant negative or gain-of-function form of WDR63. These are the first findings supporting a role for WDR63 in encephalocele formation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Data-Review
[do] DOI:10.1002/humu.23388


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