1
40
2
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1002/ajmg.a.35739" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.a.35739</a>
Rights
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
Pages
835-840
Issue
4
Volume
161A
Search for Full-text
Locate full-text within NEOMED Library's e-journal collections
<p>Users with a NEOMED Library login can search for full-text journal articles at the following url: <a href="https://libraryguides.neomed.edu/home">https://libraryguides.neomed.edu/home</a></p>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Partial Deletion Of Ankrd11 Results In The Kbg Phenotype Distinct From The 16q24.3 Microdeletion Syndrome
Publisher
An entity responsible for making the resource available
American Journal of Medical Genetics Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2013
2013-04
Subject
The topic of the resource
16q24; 3; ANKRD11; ASD; autism; delineation; diagnostic-criteria; Genetics & Heredity; KBG; macrodontia; MCA; microdeletion; mosaicism; MR
Creator
An entity primarily responsible for making the resource
Khalifa M; Stein J; Grau L; Nelson V; Meck J; Aradhya S; Duby J
Description
An account of the resource
KBG syndrome (OMIM 148050) is a very rare genetic disorder characterized by macrodontia, distinctive craniofacial abnormalities, short stature, intellectual disability, skeletal, and neurologic involvement. Approximately 60 patients have been reported since it was first described in 1975. Recently mutations in ANKRD11 have been documented in patients with KBG syndrome, and it has been proposed that haploinsufficiency of ANKRD11 is the cause of this syndrome. In addition, copy number variation in the 16q24.3 region that includes ANKRD11 results in a variable phenotype that overlaps with KBG syndrome and also includes autism spectrum disorders and other dysmorphic facial features. In this report we present a 21/2-year-old African American male with features highly suggestive of KBG syndrome. Genomic microarray identified an intragenic 154kb deletion at 16q24.3 within ANKRD11. This child's mother was mosaic for the same deletion (present in approximately 38% of cells) and exhibited a milder phenotype including macrodontia, short stature and brachydactyly. This family provides additional evidence that ANKRD11 causes KBG syndrome, and the mild phenotype in the mosaic form suggests that KBG phenotypes might be dose dependent, differentiating it from the more variable 16q24.3 microdeletion syndrome. This family has additional features that might expand the phenotype of KBG syndrome. (c) 2013 Wiley Periodicals, Inc.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.35739" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.35739</a>
Format
The file format, physical medium, or dimensions of the resource
Journal Article or Conference Abstract Publication
16q24
2013
3
American Journal of Medical Genetics Part A
ANKRD11
Aradhya S
ASD
autism
delineation
diagnostic-criteria
Duby J
Genetics & Heredity
Grau L
Journal Article or Conference Abstract Publication
KBG
Khalifa M
macrodontia
MCA
Meck J
microdeletion
mosaicism
mr
Nelson V
Stein J
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.3390/jcm8070977" target="_blank" rel="noreferrer noopener">http://doi.org/10.3390/jcm8070977</a>
Rights
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
Issue
7
Volume
8
Search for Full-text
Locate full-text within NEOMED Library's e-journal collections
<p>Users with a NEOMED Library login can search for full-text journal articles at the following url: <a href="https://libraryguides.neomed.edu/home">https://libraryguides.neomed.edu/home</a></p>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Dispelling Myths about Antenatal TAPS: A Call for Action for Routine MCA-PSV Doppler Screening in the United States
Publisher
An entity responsible for making the resource available
Journal of Clinical Medicine
Date
A point or period of time associated with an event in the lifecycle of the resource
2019
2019-07
Subject
The topic of the resource
anemia-polycythemia sequence; cerebral-artery; clinical guidelines; diagnostic-criteria; fetal; General & Internal Medicine; laser-surgery; MCA-PSV Doppler; middle; monochorionic diamniotic twin pregnancy; peak systolic velocity; perinatal management; placental echogenicity; prevalence; screening; TAPS; twin anemia-polycythemia sequence; twin transfusion syndrome
Creator
An entity primarily responsible for making the resource
Nicholas Lauren; Fischbein Rebecca; Aultman Julie; Ernst-Milner Stephanie
Description
An account of the resource
In the United States, routine middle cerebral artery peak systolic velocity (MCA-PSV) Doppler screening for the detection of antenatal twin anemia-polycythemia sequence (TAPS) is not recommended. The current and only national clinical guideline from the highly-influential Society for Maternal-Fetal Medicine states that, "There is no evidence that monitoring for TAPS with MCA PSV Doppler at any time, including > 26 weeks, improves outcomes, so that this additional screening cannot be recommended at this time." We argue this recommendation has disproportionate influence on patients and the care they are offered and receive. We use current evidence to highlight and dispel pervasive myths surrounding antenatal TAPS and the value of routine MCA-PSV screening. An ethical framework that illustrates the importance of giving patients the opportunity for routine screening is presented. Findings demonstrate that: (1) both spontaneous and post-laser TAPS is a serious, potentially life-threatening complication, (2) treatment for TAPS is effective and includes expectant management, intrauterine transfusion (IUT), or surgery, (3) and routine MCA-PSV, which has satisfactory diagnostic accuracy, is currently the only way to provide early detection of TAPS. We conclude that routine TAPS screening is a medically proven valuable resource that should be offered to patients in need and to the clinicians who are trying to act toward their benefit.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.3390/jcm8070977" target="_blank" rel="noreferrer noopener">10.3390/jcm8070977</a>
2019
anemia-polycythemia sequence
Aultman Julie
cerebral-artery
clinical guidelines
Department of Family & Community Medicine
diagnostic-criteria
Ernst-Milner Stephanie
fetal
Fischbein Rebecca
General & Internal Medicine
Journal of Clinical Medicine
laser-surgery
MCA-PSV Doppler
middle
monochorionic diamniotic twin pregnancy
NEOMED College of Graduate Studies
NEOMED College of Medicine
Nicholas Lauren
peak systolic velocity
perinatal management
placental echogenicity
Prevalence
screening
September 2019 Update
TAPS
twin anemia-polycythemia sequence
twin transfusion syndrome