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Article: Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring.

Galjaard, Robert-Jan H / van der Linde, Herma C / Eussen, Bert H J / de Vries, Bert B A / Wouters, Cokkie H / Oostra, Ben A / de Graaff, Esther / Heutink, Peter

American journal of medical genetics. Part A

2003 Volume 121A, Issue 2, Page(s) 168–173

Abstract: ... digits or parts of it. PAP type B presents frequently as a skin tag on the hand(s). It is usually ... recognizable syndromes. We present a male with PAP-B only and his daughter with an extended phenotype including ... The chromosomal regions described here have not been previously associated with the PAP-B phenotype. We present ...

Abstract	Postaxial polydactyly (PAP) is characterized by the presence of one or more extra ulnar or fibular digits or parts of it. PAP type B presents frequently as a skin tag on the hand(s). It is usually an isolated malformation, but in 6.6% it is associated with other congenital abnormalities, mostly well recognizable syndromes. We present a male with PAP-B only and his daughter with an extended phenotype including mental retardation and minor dysmorphisms. Both share a cytogenetically balanced t(4;7)(p15.2;q35), present in mosaicism in the father. We found microdeletions associated with the breakpoints. The chromosomal regions described here have not been previously associated with the PAP-B phenotype. We present the first case of an individual with isolated PAP-B and a submicroscopic chromosome abnormality.
MeSH term(s)	Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Adolescent ; Chromosome Disorders/genetics ; Chromosomes, Human, Pair 4 ; Chromosomes, Human, Pair 7 ; Fathers ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability/genetics ; Karyotyping ; Male ; Mosaicism ; Phenotype ; Polydactyly/genetics ; Polydactyly/pathology ; Translocation, Genetic/genetics
Language	English
Publishing date	2003-05-15
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2108614-X
ISSN	1552-4825
ISSN	1552-4825
DOI	10.1002/ajmg.a.20165
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Article: Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred.

Zhao, Hongshan / Tian, Yong / Breedveld, Guido / Huang, Shangzhi / Zou, Ying / Y, Jue / Chai, Jinghua / Li, Hui / Li, Mingyue / Oostra, Ben A / Lo, Wilson H Y / Heutink, Peter

European journal of human genetics : EJHG

2002 Volume 10, Issue 3, Page(s) 162–166

Abstract: ... with the fifth or an extra metacarpal. A rudimentary extra fifth digit characterises type B. Mutations ... B. Two-point linkage analysis showed the highest LOD score (Z(max) = 5.85 at theta; = 0 cM ...

Abstract	Postaxial polydactyly is characterised by fifth digit duplications in hands and/or feet. Two phenotypic varieties have been described. In type A, the extra digit is well formed and articulates with the fifth or an extra metacarpal. A rudimentary extra fifth digit characterises type B. Mutations in the GLI3 gene are associated with postaxial polydactyly in some families and a second locus has been identified on chromosome 13 but the majority of cases remain unexplained. We report here a third locus for postaxial polydactyly on chromosome 19p13.1-13.2 in a large Chinese kindred with a combination of type A and B. Two-point linkage analysis showed the highest LOD score (Z(max) = 5.85 at theta; = 0 cM) at marker D19S221. Recombination events with markers D19S1165 and D19S929 define the critical region for this postaxial polydactyly locus to a region of 4.3 cM on the genetic map.
MeSH term(s)	China ; Chromosomes, Human, Pair 19 ; Female ; Genetic Linkage ; Genetic Markers ; Genotype ; Humans ; Lod Score ; Male ; Mutation ; Pedigree ; Phenotype ; Polydactyly/genetics ; Polydactyly/pathology ; Recombination, Genetic
Chemical Substances	Genetic Markers
Language	English
Publishing date	2002-03
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/sj.ejhg.5200790
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Zs.A 3589: Show issues

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Article: A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.

Galjaard, Robert-Jan H / Smits, Arie P T / Tuerlings, Joep H A M / Bais, Aagje G / Bertoli Avella, Aida M / Breedveld, Guido / de Graaff, Esther / Oostra, Ben A / Heutink, Peter

European journal of human genetics : EJHG

2003 Volume 11, Issue 5, Page(s) 409–415

Abstract: ... metatarsal, while it is rudimentary in PAP-B. Isolated PAP usually segregates as an autosomal dominant trait ... with variable expression. Three loci are known for PAP in humans. PAPA1 (including PAP-A/B in one patient ... a third one (PAPA3) in a Chinese family with PAP-A/B on 19p13.1-13.2. We identified a fourth locus ...

Abstract	Postaxial polydactyly (PAP) is the occurrence of one or more extra ulnar or fibular digits or parts of it. In PAP-A, the extra digit is fully developed and articulates with the fifth or an additional metacarpal/metatarsal, while it is rudimentary in PAP-B. Isolated PAP usually segregates as an autosomal dominant trait, with variable expression. Three loci are known for PAP in humans. PAPA1 (including PAP-A/B in one patient) on 7p13 caused by mutations in the GLI3 gene, PAPA2 on 13q21-q32 in a Turkish kindred with PAP-A only, and a third one (PAPA3) in a Chinese family with PAP-A/B on 19p13.1-13.2. We identified a fourth locus in a large Dutch six-generation family with 31 individuals including 11 affecteds. Their phenotype varied from either PAP-A, or PAP-B to PAP-A/B with or without the co-occurence of partial cutaneous syndactyly. We performed a whole-genome search and found linkage between PAP and markers on chromosome 7q. The highest LOD score was 3.34 obtained at D7S1799 and D7S500 with multipoint analysis.
MeSH term(s)	Chromosomes, Human, Pair 7 ; Female ; Genetic Linkage ; Genetic Markers ; Haplotypes ; Humans ; Male ; Pedigree ; Polydactyly/genetics
Chemical Substances	Genetic Markers
Language	English
Publishing date	2003-05
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/sj.ejhg.5200982
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Article: Primary Intracranial Adenoid Cystic Carcinoma: Report of Three Cases.

Tsetsos, Nikolaos / Poutoglidis, Alexandros / Terzakis, Dimitrios / Epitropou, Ioannis / Oostra, Amanda / Georgalas, Christos

Journal of neurological surgery. Part B, Skull base

2022 Volume 84, Issue 4, Page(s) 329–335

Abstract: ... ...

Abstract	Objective
Language	English
Publishing date	2022-06-07
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2654269-9
ISSN	2193-634X ; 2193-6331
ISSN (online)	2193-634X
ISSN	2193-6331
DOI	10.1055/a-1837-6825
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Zs.A 3425: Show issues

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Article ; Online: Midline crossing pulmonary vein: right upper lobe dual venous drainage, with partial anomalous venous return of the right lung into a persistent left superior vena cava.

van Schuppen, J / van der Hulst, A E / Kuipers, I M / Straver, B / Boekholdt, S M / Planken, R N / Oostra, R J

Surgical and radiologic anatomy : SRA

2021 Volume 44, Issue 1, Page(s) 99–103

Abstract: Introduction: We present a case of dual drainage of the right upper lobe of the lung into the left atrium and via partial anomalous venous pulmonary return (PAPVR) into a persistent left superior vena cava (SVC).: Discussion: It is only in the ... ...

Abstract	Introduction: We present a case of dual drainage of the right upper lobe of the lung into the left atrium and via partial anomalous venous pulmonary return (PAPVR) into a persistent left superior vena cava (SVC). Discussion: It is only in the minority of PAPVR cases where the anomalous pulmonary veins cross the midline. We provide a review of current literature on this topic and an explanatory embryological model. Knowledge of embryonic development and possible anatomic variations, including the concept of dual venous drainage of the lung, leads to better interpretation of imaging, with more accurate description of the morphology at hand. High-resolution multidetector computed tomography (MDCT) helps to delineate the exact vascular anatomy. This will enhance a better understanding of and anticipation on the patient's disease status, with more accurate planning of intervention, and possibly less complications.
MeSH term(s)	Drainage ; Humans ; Lung/diagnostic imaging ; Persistent Left Superior Vena Cava ; Pulmonary Veins/diagnostic imaging ; Vena Cava, Superior/diagnostic imaging
Language	English
Publishing date	2021-10-28
Publishing country	Germany
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	632839-8
ISSN	1279-8517 ; 0930-312X ; 0930-1038
ISSN (online)	1279-8517
ISSN	0930-312X ; 0930-1038
DOI	10.1007/s00276-021-02849-9
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Zs.A 1456: Show issues

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Article: Candida dubliniensis

Oostra, Tyler D / Schoenfield, Lynn R / Mauger, Thomas F

IDCases

2018 Volume 14, Page(s) e00440

Abstract: ... Cultures were obtained, and the patient was started on fortified amphotericin B drops and oral voriconazole ...

Abstract	A 45-year-old female with history of contact lens wear presented with a persistent corneal ulcer that was unresponsive to topical moxifloxacin. The patient's exam was concerning for fungal keratitis. Cultures were obtained, and the patient was started on fortified amphotericin B drops and oral voriconazole. The cultures identified
Language	English
Publishing date	2018-08-14
Publishing country	Netherlands
Document type	Journal Article ; Case Reports
ZDB-ID	2745454-X
ISSN	2214-2509
ISSN	2214-2509
DOI	10.1016/j.idcr.2018.e00440
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Article: Ultra-wide field imaging to assess the optic nerve and retina in Boston type I and II keratoprosthesis patients.

Bloom, William R / Karl, Matthew D / Smith, Sarah B / Shao, Yusra F / Terrell, William / Tarabishy, Ahmad B / Hendershot, Andrew J / Kuennen, Rebecca A / Oostra, Tyler D / Mauger, Thomas F / Cebulla, Colleen M

Eye and vision (London, England)

2022 Volume 9, Issue 1, Page(s) 18

Abstract: Background: The ability to view the posterior segment in keratoprosthesis (Kpro) implanted patients is limited. The purpose of this retrospective, observational study was to investigate the use of ultra-wide field (UWF) scanning laser ophthalmoscopy ... ...

Abstract	Background: The ability to view the posterior segment in keratoprosthesis (Kpro) implanted patients is limited. The purpose of this retrospective, observational study was to investigate the use of ultra-wide field (UWF) scanning laser ophthalmoscopy imaging and its utility for serial evaluation of the retina and optic nerve in patients with either a Boston type I or II Kpro. Methods: A retrospective chart review was performed for patients with a Boston type I or II Kpro seen at The Ohio State University Wexner Medical Center. Images were graded for quality by two masked observers on a defined four-point scale ("Poor", "Fair", "Good", or "Very good") and assessed for visible posterior segment anatomy. Interobserver agreement was described using the Kappa statistic coefficient (κ) with 95% confidence intervals. Results: A total of 19 eyes from 17 patients were included in this study. Eighteen eyes had a type I Kpro, while one eye had a type II Kpro. UWF imaging from 41 patient visits were reviewed by two observers. Interobserver agreement between the two graders was fair for image quality (κ = 0.36), moderate for visibility of the macula with discernible details (κ = 0.59), moderate for visibility of the anterior retina with discernable details (κ = 0.60), and perfect agreement for visibility of the optic nerve with discernible details (κ = 1.0). In 6 eyes, UWF imaging was performed longitudinally (range 3-9 individual visits), allowing for long-term follow-up (range 3-46 months) of posterior segment clinical pathology. Conclusions: UWF imaging provides adequate and reliable visualization of the posterior segment in Kpro implanted patients. This imaging modality allowed for noninvasive longitudinal monitoring of retinal and optic nerve disease in this selected patient population.
Language	English
Publishing date	2022-05-07
Publishing country	England
Document type	Journal Article
ZDB-ID	2806610-8
ISSN	2326-0254
ISSN	2326-0254
DOI	10.1186/s40662-022-00289-z
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Article: Supraventricular Tachycardia and Postural Orthostatic Tachycardia Syndrome Overlap: A Retrospective Study.

Nesheiwat, Zeid / Towheed, Arooge / Eid, Joseph / Tomcho, Jeremy / Shastri, Pinang / Oostra, Carson / Karabin, Beverly / Grubb, Blair

The Journal of innovations in cardiac rhythm management

2021 Volume 12, Issue 2, Page(s) 4385–4389

Abstract: Postural orthostatic tachycardia syndrome (POTS) and supraventricular tachycardia (SVT) are disease states with distinctive features but overlapping clinical manifestations. Currently, studies on the presence of underlying SVT in patients with POTS are ... ...

Abstract	Postural orthostatic tachycardia syndrome (POTS) and supraventricular tachycardia (SVT) are disease states with distinctive features but overlapping clinical manifestations. Currently, studies on the presence of underlying SVT in patients with POTS are lacking. This retrospective study analyzed 64 patients [mean age: 43 years; 41 (61%) women] who had a POTS diagnosis and were found to have concomitant SVT during rhythm monitoring from September 1, 2013 to September 30, 2019 at our Syncope and Autonomic Disorders Clinic. The outcomes assessed were changes in disease severity, frequency of symptoms, heart rate, and blood pressure between before and after SVT ablation. The most frequent types of SVT noted on the electrophysiologic study were atrioventricular nodal reentrant tachycardia (57.81%), atrial flutter (29.68%), atrioventricular reentrant tachycardia (9.37%), atrial tachycardia (1.56%), and junctional tachycardia (1.56%). After SVT ablation, all 64 patients experienced an improvement in symptoms. Palpitations and lightheadedness experienced the most improvement after the procedure (72% vs. 31%; p < 0.001 and 63% vs. 22%; p < 0.001, respectively). There was a significant improvement in the resting heart rate (81.1 ± 12.8 vs. 75.8 ± 15.6 bpm; p < 0.002), but the orthostatic tachycardia on standing persisted (93.6 ± 16.5 vs. 77.3 ± 19.8 bpm; p = 0.14). Underlying SVT in patients with POTS can be missed easily. A strong suspicion and long-term ambulatory cardiac rhythm monitoring can help in diagnosing the condition.
Language	English
Publishing date	2021-02-15
Publishing country	United States
Document type	Journal Article
ISSN	2156-3977
ISSN	2156-3977
DOI	10.19102/icrm.2021.120201
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Article ; Online: WAPL-Dependent Repair of Damaged DNA Replication Forks Underlies Oncogene-Induced Loss of Sister Chromatid Cohesion.

Benedict, Bente / van Schie, Janne J M / Oostra, Anneke B / Balk, Jesper A / Wolthuis, Rob M F / Riele, Hein Te / de Lange, Job

Developmental cell

2020 Volume 52, Issue 6, Page(s) 683–698.e7

Abstract: Premature loss of sister chromatid cohesion at metaphase is a diagnostic marker for different cohesinopathies. Here, we report that metaphase spreads of many cancer cell lines also show premature loss of sister chromatid cohesion. Cohesion loss occurs ... ...

Abstract	Premature loss of sister chromatid cohesion at metaphase is a diagnostic marker for different cohesinopathies. Here, we report that metaphase spreads of many cancer cell lines also show premature loss of sister chromatid cohesion. Cohesion loss occurs independently of mutations in cohesion factors including SA2, a cohesin subunit frequently inactivated in cancer. In untransformed cells, induction of DNA replication stress by activation of oncogenes or inhibition of DNA replication is sufficient to trigger sister chromatid cohesion loss. Importantly, cell growth under conditions of replication stress requires the cohesin remover WAPL. WAPL promotes rapid RAD51-dependent repair and restart of broken replication forks. We propose that active removal of cohesin allows cancer cells to overcome DNA replication stress. This leads to oncogene-induced cohesion loss from newly synthesized sister chromatids that may contribute to genomic instability and likely represents a targetable cancer cell vulnerability.
MeSH term(s)	Animals ; Carrier Proteins/genetics ; Carrier Proteins/metabolism ; Cell Cycle Proteins/metabolism ; Cell Line, Tumor ; Cells, Cultured ; Chromatids/genetics ; Chromosomal Proteins, Non-Histone/metabolism ; DNA Repair ; DNA Replication ; HEK293 Cells ; Humans ; Mice ; Nuclear Proteins/genetics ; Nuclear Proteins/metabolism ; Proto-Oncogene Proteins/genetics ; Proto-Oncogene Proteins/metabolism ; ras Proteins/metabolism ; Cohesins
Chemical Substances	Carrier Proteins ; Cell Cycle Proteins ; Chromosomal Proteins, Non-Histone ; Nuclear Proteins ; Proto-Oncogene Proteins ; WAPL protein, human ; ras Proteins (EC 3.6.5.2)
Language	English
Publishing date	2020-02-20
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2054967-2
ISSN	1878-1551 ; 1534-5807
ISSN (online)	1878-1551
ISSN	1534-5807
DOI	10.1016/j.devcel.2020.01.024
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Zs.A 5742: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Imaging fetal anatomy.

Dawood, Yousif / Buijtendijk, Marieke F J / Shah, Harsha / Smit, Johannes A / Jacobs, Karl / Hagoort, Jaco / Oostra, Roelof-Jan / Bourne, Tom / van den Hoff, Maurice J B / de Bakker, Bernadette S

Seminars in cell & developmental biology

2022 Volume 131, Page(s) 78–92

Abstract: Due to advancements in ultrasound techniques, the focus of antenatal ultrasound screening is moving towards the first trimester of pregnancy. The early first trimester however remains in part, a 'black box', due to the size of the developing embryo and ... ...

Abstract	Due to advancements in ultrasound techniques, the focus of antenatal ultrasound screening is moving towards the first trimester of pregnancy. The early first trimester however remains in part, a 'black box', due to the size of the developing embryo and the limitations of contemporary scanning techniques. Therefore there is a need for images of early anatomical developmental to improve our understanding of this area. By using new imaging techniques, we can not only obtain better images to further our knowledge of early embryonic development, but clear images of embryonic and fetal development can also be used in training for e.g. sonographers and fetal surgeons, or to educate parents expecting a child with a fetal anomaly. The aim of this review is to provide an overview of the past, present and future techniques used to capture images of the developing human embryo and fetus and provide the reader newest insights in upcoming and promising imaging techniques. The reader is taken from the earliest drawings of da Vinci, along the advancements in the fields of in utero ultrasound and MR imaging techniques towards high-resolution ex utero imaging using Micro-CT and ultra-high field MRI. Finally, a future perspective is given about the use of artificial intelligence in ultrasound and new potential imaging techniques such as synchrotron radiation-based CT to increase our knowledge regarding human development.
MeSH term(s)	Artificial Intelligence ; Female ; Fetus/diagnostic imaging ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging/methods ; Pregnancy ; Prenatal Diagnosis/methods
Language	English
Publishing date	2022-03-10
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1312473-0
ISSN	1096-3634 ; 1084-9521
ISSN (online)	1096-3634
ISSN	1084-9521
DOI	10.1016/j.semcdb.2022.02.023
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