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Book ; Online ; E-Book: Genomics in the Clinic

Kline, Antonie D. / Jabs, Ethylin Wang

A Practical Guide to Genetic Testing, Evaluation, and Counseling

2024

Author's details	Antonie D. Kline and Ethylin Wang Jabs, editors
MeSH term(s)	Genetics, Medical ; Genomics
Keywords	Medical genetics ; Genomics
Subject code	599.935
Language	English
Size	1 online resource (622 pages)
Edition	First edition.
Publisher	Stacy Masucci
Publishing place	London, England
Document type	Book ; Online ; E-Book
Remark	Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
ISBN	0-12-816479-4 ; 9780128164785 ; 978-0-12-816479-2 ; 0128164786
Database	ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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Article ; Online: Mindfulness and Sex Education for Sexual Interest/Arousal Disorder: Mediators and Moderators of Treatment Outcome.

Brotto, Lori A / Zdaniuk, Bozena / Chivers, Meredith L / Jabs, Faith / Grabovac, Andrea D / Lalumière, Martin L

Journal of sex research

2022 Volume 60, Issue 4, Page(s) 508–521

Abstract: Sexual Interest/Arousal Disorder (SIAD) is a common sexual dysfunction in women. Both mindfulness-based cognitive therapy (MBCT) plus psychoeducation and sex therapy, education, and support (STEP; which contains the same educational information as in the ...

Abstract	Sexual Interest/Arousal Disorder (SIAD) is a common sexual dysfunction in women. Both mindfulness-based cognitive therapy (MBCT) plus psychoeducation and sex therapy, education, and support (STEP; which contains the same educational information as in the MBCT arm but also integrates supportive-expressive therapy), are effective. We tested mediators and moderators of improvements. Each treatment arm consisted of eight sessions delivered weekly, and participants completed measures online pre-treatment, immediately post-treatment, and at 6- and 12-month post-treatment. Depression, self-reported interoceptive awareness, self-compassion, self-criticism, and mindfulness were examined as mediators, and expectations for improvement as a moderator. Of 148 cisgender women who consented, 70 were randomized to the MBCT plus psychoeducation group (mean age 39.3 ± 13.2 yrs) and 78 to the STEP group (mean age 37.9 ± 12.2 yrs). Decreases in depression mediated decreases in sexual distress in the MBCT plus psychoeducation group only. Improvements in interoceptive awareness mediated changes in both sexual desire and arousal, and sexual distress, and to a greater degree after MBCT plus psychoeducation. Changes in self-compassion mediated changes in sexual desire and arousal only for the MBCT plus psychoeducation group and mediated changes in sexual distress in both groups. Reductions in self-criticism mediated improvements in sexual distress to a greater extent after MBCT plus psychoeducation. Changes in mindfulness predicted changes in desire and arousal, and distress only in the MBCT plus psychoeducation group. Expectations for improvement did not moderate any outcomes. The findings have implications for understanding common and potentially distinct pathways by which MBCT plus psychoeducation and supportive sex education improve symptoms of SIAD.
MeSH term(s)	Humans ; Female ; Adult ; Middle Aged ; Mindfulness ; Sex Education ; Cognitive Behavioral Therapy ; Treatment Outcome ; Arousal
Language	English
Publishing date	2022-09-30
Publishing country	United States
Document type	Randomized Controlled Trial ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	220889-1
ISSN	1559-8519 ; 0022-4499
ISSN (online)	1559-8519
ISSN	0022-4499
DOI	10.1080/00224499.2022.2126815
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Article ; Online: Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.

Gates, Ryan W / Webb, Bryn D / Stevenson, David A / Jabs, Ethylin Wang / DeFilippo, Colette / Ruzhnikov, Maura R Z / Tise, Christina G

American journal of medical genetics. Part A

2023 Volume 191, Issue 11, Page(s) 2743–2748

Abstract: Moebius syndrome is a congenital cranial dysinnervation disorder (CCDD) that presents with nonprogressive cranial nerve (CN) VI and VII palsies resulting in facial weakness and inability to abduct the eye(s). While many CCDDs have an underlying genetic ... ...

Abstract	Moebius syndrome is a congenital cranial dysinnervation disorder (CCDD) that presents with nonprogressive cranial nerve (CN) VI and VII palsies resulting in facial weakness and inability to abduct the eye(s). While many CCDDs have an underlying genetic cause, the etiology of Moebius syndrome remains unclear as most cases are sporadic. Here, we describe a pair of monochorionic, diamniotic twin girls; one with normal growth and development, and one with micrognathia, reduced facial expression, and poor feeding. Magnetic resonance imaging of the brain performed on the affected twin at 19 months of age showed severely hypoplastic or absent CN IV bilaterally, left CN VI smaller than right, and bilateral hypoplastic CN VII and IX, consistent with a diagnosis of a CCDD, most similar to that of Moebius syndrome. Genomic sequencing was performed on each twin and data was assessed for discordant variants, as well as variants in novel and CCDD-associated genes. No pathogenic, likely pathogenic, or variants of uncertain significance were identified in genes known to be associated with CCDDs or other congenital facial weakness conditions. This family provides further evidence in favor of a stochastic event as the etiology in Moebius syndrome, rather than a monogenic condition.
Language	English
Publishing date	2023-09-07
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63389
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Article ; Online: Impact of Developmental Changes of GABA

Patt, Linda / Tascio, Dario / Domingos, Catia / Timmermann, Aline / Jabs, Ronald / Henneberger, Christian / Steinhäuser, Christian / Seifert, Gerald

International journal of molecular sciences

2023 Volume 24, Issue 17

Abstract: NG2 glia receive synaptic input from neurons, but the functional impact of this glial innervation is not well understood. In the developing cerebellum and somatosensory cortex the GABAergic input might regulate NG2 glia differentiation and myelination, ... ...

Abstract	NG2 glia receive synaptic input from neurons, but the functional impact of this glial innervation is not well understood. In the developing cerebellum and somatosensory cortex the GABAergic input might regulate NG2 glia differentiation and myelination, and a switch from synaptic to extrasynaptic neuron-glia signaling was reported in the latter region. Myelination in the hippocampus is sparse, and most NG2 glia retain their phenotype throughout adulthood, raising the question of the properties and function of neuron-NG2 glia synapses in that brain region. Here, we compared spontaneous and evoked GABA
MeSH term(s)	Animals ; Mice ; gamma-Aminobutyric Acid ; Hippocampus ; Interneurons ; Neuroglia ; Receptors, GABA-A
Chemical Substances	chondroitin sulfate proteoglycan 4 ; gamma-Aminobutyric Acid (56-12-2) ; Receptors, GABA-A
Language	English
Publishing date	2023-08-30
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms241713490
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Article ; Online: #DebunkingDesire: Sexual Science, Social Media, and Strategy in the Pursuit of Knowledge Dissemination.

Lavery, Brynn M / Nelson, Melissa / Firican, Diana / Prestley, Nicole / Kumru, Rayka / Jabs, Faith / O'Loughlin, Julia / Brotto, Lori A

Journal of sex & marital therapy

2023 Volume 50, Issue 1, Page(s) 1–17

Abstract: Approximately 1 in 3 women experience low sexual desire. Despite this being a common concern, many women never seek professional help for their difficulties and will instead turn to online resources for information. We sought to address this need for ... ...

Abstract	Approximately 1 in 3 women experience low sexual desire. Despite this being a common concern, many women never seek professional help for their difficulties and will instead turn to online resources for information. We sought to address this need for digitally-accessible, evidence-based information on low sexual desire by creating a social media Knowledge Translation (KT) campaign called #DebunkingDesire. Our team led a 10 month social media campaign where our primary outcomes for the campaign were impressions, reach, and engagement. We generated over 300,000 social media impressions; appeared on 11 different podcasts that were listened to/downloaded 154,700 times; hosted and participated in eight online events; and attracted website users from 110 different countries. Over the course of the campaign we compiled lessons learned on what worked for disseminating our key messages and the importance of creating community for this population. These findings point to the utility of using social media as part of KT campaigns in sexual health, and to the importance of collaborating with patient partners and considering social media ads and podcasts to meet reach goals.
MeSH term(s)	Humans ; Female ; Health Promotion ; Social Media ; Sexual Behavior ; Social Sciences
Language	English
Publishing date	2023-08-11
Publishing country	England
Document type	Journal Article
ZDB-ID	752393-2
ISSN	1521-0715 ; 0092-623X
ISSN (online)	1521-0715
ISSN	0092-623X
DOI	10.1080/0092623X.2023.2243923
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Article ; Online: A framework for the evaluation of patients with congenital facial weakness.

Webb, Bryn D / Manoli, Irini / Engle, Elizabeth C / Jabs, Ethylin W

Orphanet journal of rare diseases

2021 Volume 16, Issue 1, Page(s) 158

Abstract: There is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial ... ...

Abstract	There is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis. The core categories of causes of congenital facial weakness include: neurogenic, neuromuscular junction, myopathic, and other. This diagnostic algorithm is presented, and physical exam considerations, additional follow-up studies and/or consultations, and appropriate genetic testing are discussed in detail. This framework should enable clinical geneticists, neurologists, and other rare disease specialists to feel prepared when encountering this patient population and guide diagnosis, genetic counseling, and clinical care.
MeSH term(s)	Diagnostic Errors ; Face ; Facial Paralysis ; Follow-Up Studies ; Humans ; Neuromuscular Junction
Language	English
Publishing date	2021-04-07
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Review
ISSN	1750-1172
ISSN (online)	1750-1172
DOI	10.1186/s13023-021-01736-1
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Article ; Online: From quantitative metrics to clinical success: assessing the utility of deep learning for tumor segmentation in breast surgery.

Yeung, Chris / Ungi, Tamas / Hu, Zoe / Jamzad, Amoon / Kaufmann, Martin / Walker, Ross / Merchant, Shaila / Engel, Cecil Jay / Jabs, Doris / Rudan, John / Mousavi, Parvin / Fichtinger, Gabor

International journal of computer assisted radiology and surgery

2024

Abstract: Purpose: Preventing positive margins is essential for ensuring favorable patient outcomes following breast-conserving surgery (BCS). Deep learning has the potential to enable this by automatically contouring the tumor and guiding resection in real time. ...

Abstract	Purpose: Preventing positive margins is essential for ensuring favorable patient outcomes following breast-conserving surgery (BCS). Deep learning has the potential to enable this by automatically contouring the tumor and guiding resection in real time. However, evaluation of such models with respect to pathology outcomes is necessary for their successful translation into clinical practice. Methods: Sixteen deep learning models based on established architectures in the literature are trained on 7318 ultrasound images from 33 patients. Models are ranked by an expert based on their contours generated from images in our test set. Generated contours from each model are also analyzed using recorded cautery trajectories of five navigated BCS cases to predict margin status. Predicted margins are compared with pathology reports. Results: The best-performing model using both quantitative evaluation and our visual ranking framework achieved a mean Dice score of 0.959. Quantitative metrics are positively associated with expert visual rankings. However, the predictive value of generated contours was limited with a sensitivity of 0.750 and a specificity of 0.433 when tested against pathology reports. Conclusion: We present a clinical evaluation of deep learning models trained for intraoperative tumor segmentation in breast-conserving surgery. We demonstrate that automatic contouring is limited in predicting pathology margins despite achieving high performance on quantitative metrics.
Language	English
Publishing date	2024-04-20
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2365628-1
ISSN	1861-6429 ; 1861-6410
ISSN (online)	1861-6429
ISSN	1861-6410
DOI	10.1007/s11548-024-03133-y
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Article ; Online: Insurance status and mortality among patients with AIDS.

Jabs, A W / Jabs, D A / Van Natta, M L / Palella, F J / Meinert, C L

HIV medicine

2017 Volume 19, Issue 1, Page(s) 7–17

Abstract: Objectives: The aim of the study was to evaluate risk factors for mortality, including health care insurance status, among patients with AIDS in the era of modern combination antiretroviral therapy (cART).: Methods: This study was part of the ... ...

Abstract	Objectives: The aim of the study was to evaluate risk factors for mortality, including health care insurance status, among patients with AIDS in the era of modern combination antiretroviral therapy (cART). Methods: This study was part of the prospective, multicentre, observational Longitudinal Study of the Ocular Complications of AIDS (LSOCA). Patients were classified as having private health care insurance, Medicare, Medicaid, or no insurance. Hazard ratios (HRs) for death were calculated using proportional hazards regression models and staggered entries, anchored to the AIDS diagnosis date. Results: Among 2363 participants with AIDS, 97% were treated with cART. At enrolment, 31% of participants had private insurance, 29% had Medicare, 24% had Medicaid, and 16% were uninsured. Noninfectious, age-related diseases, such as hypertension, diabetes, and renal disease, were more frequent among persons with Medicare than among those with private insurance. Compared with those who were privately insured, mortality was greater among participants with Medicare [adjusted HR (HR Conclusions: In persons with AIDS, compared with those with private insurance, those with public insurance had increased mortality, possibly as a result of a greater burden of noninfectious, age-related diseases.
MeSH term(s)	Acquired Immunodeficiency Syndrome/mortality ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Insurance Coverage ; Longitudinal Studies ; Male ; Middle Aged ; Prospective Studies ; Risk Factors ; Young Adult
Language	English
Publishing date	2017-07-11
Publishing country	England
Document type	Journal Article ; Multicenter Study ; Observational Study ; Research Support, N.I.H., Extramural
ZDB-ID	2001932-4
ISSN	1468-1293 ; 1464-2662
ISSN (online)	1468-1293
ISSN	1464-2662
DOI	10.1111/hiv.12531
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Article: Auxiliary Subunits Control Function and Subcellular Distribution of AMPA Receptor Complexes in NG2 Glia of the Developing Hippocampus.

Hardt, Stefan / Tascio, Dario / Passlick, Stefan / Timmermann, Aline / Jabs, Ronald / Steinhäuser, Christian / Seifert, Gerald

Frontiers in cellular neuroscience

2021 Volume 15, Page(s) 669717

Abstract: Synaptic and axonal glutamatergic signaling to NG2 glia in white matter is critical for the cells' differentiation and activity dependent myelination. However, in gray matter the impact of neuron-to-NG2 glia signaling is still elusive, because most of ... ...

Abstract	Synaptic and axonal glutamatergic signaling to NG2 glia in white matter is critical for the cells' differentiation and activity dependent myelination. However, in gray matter the impact of neuron-to-NG2 glia signaling is still elusive, because most of these cells keep their non-myelinating phenotype throughout live. Early in postnatal development, hippocampal NG2 glia express AMPA receptors with a significant Ca
Language	English
Publishing date	2021-06-10
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2452963-1
ISSN	1662-5102
ISSN	1662-5102
DOI	10.3389/fncel.2021.669717
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Article: Demonstration of the dosage effect of Rho (D) antigens on human red blood cells by an EA rosette assay.

Horita, M / Jabs, A D / Ricker, B A / Loren, A / Yokoyama, M M

The Kurume medical journal

1980 Volume 27, Issue 2, Page(s) 85–92

MeSH term(s)	B-Lymphocytes/immunology ; Dose-Response Relationship, Immunologic ; Erythrocytes/immunology ; Humans ; Isoantigens/analysis ; Rh-Hr Blood-Group System/immunology ; Rosette Formation
Chemical Substances	Isoantigens ; Rh-Hr Blood-Group System
Language	English
Publishing date	1980
Publishing country	Japan
Document type	Journal Article
ZDB-ID	603905-4
ISSN	1881-2090 ; 0023-5679
ISSN (online)	1881-2090
ISSN	0023-5679
DOI	10.2739/kurumemedj.27.85
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