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Article ; Online: CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.

van Karnebeek, Clara D M / Tarailo-Graovac, Maja / Leen, René / Meinsma, Rutger / Correard, Solenne / Jansen-Meijer, Judith / Prykhozhij, Sergey V / Pena, Izabella A / Ban, Kevin / Schock, Sarah / Saxena, Vishal / Pras-Raves, Mia L / Drögemöller, Britt I / Grootemaat, Anita E / van der Wel, Nicole N / Dobritzsch, Doreen / Roseboom, Winfried / Schomakers, Bauke V / Jaspers, Yorrick R J /

Zoetekouw, Lida / Roelofsen, Jeroen / Ferreira, Carlos R / van der Lee, Robin / Ross, Colin J / Kochan, Jakub / McIntyre, Rebecca L / van Klinken, Jan B / van Weeghel, Michel / Kramer, Gertjan / Weschke, Bernhard / Labrune, Philippe / Willemsen, Michèl A / Riva, Daria / Garavaglia, Barbara / Moeschler, John B / Filiano, James J / Ekker, Marc / Berman, Jason N / Dyment, David / Vaz, Frédéric M / Wassermann, Wyeth W / Houtkooper, Riekelt H / van Kuilenburg, André B P

Genetics in medicine : official journal of the American College of Medical Genetics

2024 Volume 26, Issue 6, Page(s) 101104

Abstract: Purpose: The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. Here, we describe the first 2 inherited disorders of the cytosolic iron-sulfur protein assembly system.!## ...

Abstract	Purpose: The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. Here, we describe the first 2 inherited disorders of the cytosolic iron-sulfur protein assembly system. Methods: Genetic testing via genome sequencing was applied to identify the underlying disease cause in 3 patients with microcephaly, congenital brain malformations, progressive developmental and neurologic impairments, recurrent infections, and a fatal outcome. Studies in patient-derived skin fibroblasts and zebrafish models were performed to investigate the biochemical and cellular consequences. Results: Metabolic analysis showed elevated uracil and thymine levels in body fluids but no pathogenic variants in DPYD, encoding dihydropyrimidine dehydrogenase. Genome sequencing identified compound heterozygosity in 2 patients for missense variants in CIAO1, encoding cytosolic iron-sulfur assembly component 1, and homozygosity for an in-frame 3-nucleotide deletion in MMS19, encoding the MMS19 homolog, cytosolic iron-sulfur assembly component, in the third patient. Profound alterations in the proteome, metabolome, and lipidome were observed in patient-derived fibroblasts. We confirmed the detrimental effect of deficiencies in CIAO1 and MMS19 in zebrafish models. Conclusion: A general failure of cytosolic and nuclear iron-sulfur protein maturation caused pleiotropic effects. The critical function of the cytosolic iron-sulfur protein assembly machinery for antiviral host defense may well explain the recurrent severe infections occurring in our patients.
Language	English
Publishing date	2024-02-24
Publishing country	United States
Document type	Journal Article
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1016/j.gim.2024.101104
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Zs.A 5059: Show issues

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Article ; Online: U.S. FDA Drug Approvals for Gynecological Malignancies: A Decade in Review.

Clinical cancer research : an official journal of the American Association for Cancer Research

2021 Volume 28, Issue 6, Page(s) 1058–1071

Abstract: ... with gynecologic cancers with a changing therapy landscape. This summary provides an overview of U.S ...

Abstract	Over the last decade, there has been tremendous progress in the treatment of patients with gynecologic cancers with a changing therapy landscape. This summary provides an overview of U.S. Food and Drug Administration (FDA) approvals for gynecologic cancers from 2010 to 2020, totaling 17 new indications. For each of the approved indications, endpoints, trial design, results, and regulatory considerations are outlined. Among these 17 indications, six received accelerated approval (AA) and 11 received regular approval (RA). As of September 2021, of the six AA, three have subsequently demonstrated clinical benefit resulting in conversion to RA and the remaining three have ongoing clinical trials that have not yet reported results. Approval decisions for these 17 indications were supported by primary efficacy endpoints of progression-free survival (n = 10), objective response rate (n = 6), and overall survival (n = 1) and showed a favorable benefit-risk profile. Among the 17 indications, 15 received priority review and three applications participated in one or more novel Oncology Center of Excellence initiatives, including Real Time Oncology Review, Assessment Aid, and Project Orbis. Current FDA thinking on drug development opportunities and regulatory initiatives currently under way will be discussed.
MeSH term(s)	Antineoplastic Agents/therapeutic use ; Drug Approval ; Female ; Genital Neoplasms, Female/drug therapy ; Humans ; United States ; United States Food and Drug Administration
Chemical Substances	Antineoplastic Agents
Language	English
Publishing date	2021-10-28
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1225457-5
ISSN	1557-3265 ; 1078-0432
ISSN (online)	1557-3265
ISSN	1078-0432
DOI	10.1158/1078-0432.CCR-21-2599
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Article ; Online: U.S. FDA Drug Approvals for Breast Cancer: A Decade in Review.

Clinical cancer research : an official journal of the American Association for Cancer Research

2021 Volume 28, Issue 6, Page(s) 1072–1086

Abstract: Over the last decade, the treatment of patients with breast cancer has been greatly impacted by the approval of multiple drugs and indications. This summary describes 30 FDA approvals of treatments for breast cancer from 2010 to 2020. The trial design ... ...

Abstract	Over the last decade, the treatment of patients with breast cancer has been greatly impacted by the approval of multiple drugs and indications. This summary describes 30 FDA approvals of treatments for breast cancer from 2010 to 2020. The trial design endpoints, results, and regulatory considerations are described for each approved indication. Of the 30 indications, 23 (76.6%) received regular and 7 (23.3%) received accelerated approval. Twenty-six approvals were granted in metastatic breast cancer (MBC) and four in early breast cancer. Approval decisions for the 26 MBC indications were initially supported by progression-free survival (PFS) in 21 (80.8%), overall survival (OS) or a combination of OS and PFS in two (7.7%), and objective response rate (ORR) in three (11.5%). The four approvals in early breast cancer utilized pathologic complete response (pCR) in one (25%) and invasive disease-free survival (iDFS) in three (75%) trials. Among the 30 indications, 22 received priority review, seven were granted Breakthrough Therapy Designation, and 10 applications participated in one or more pilot Oncology Center of Excellence regulatory review initiatives, including Real Time Oncology Review, Assessment Aid, and Project Orbis. FDA initiatives to advance breast cancer drug development are also described.
MeSH term(s)	Antineoplastic Agents/therapeutic use ; Breast Neoplasms/drug therapy ; Drug Approval ; Female ; Humans ; Medical Oncology ; United States ; United States Food and Drug Administration
Chemical Substances	Antineoplastic Agents
Language	English
Publishing date	2021-10-28
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1225457-5
ISSN	1557-3265 ; 1078-0432
ISSN (online)	1557-3265
ISSN	1078-0432
DOI	10.1158/1078-0432.CCR-21-2600
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Article ; Online: Metabolic Lipids in Melanoma Enable Rapid Determination of Actionable BRAF-V600E Mutation with Picosecond Infrared Laser Mass Spectrometry in 10 s.

Katz, Lauren / Kiyota, Taira / Woolman, Michael / Wu, Megan / Pires, Layla / Fiorante, Alexa / Ye, Lan Anna / Leong, Wey / Berman, Hal K / Ghazarian, Danny / Ginsberg, Howard J / Das, Sunit / Aman, Ahmed / Zarrine-Afsar, Arash

Analytical chemistry

2023 Volume 95, Issue 38, Page(s) 14430–14439

Abstract: ... of human cancers in as little as 10 s of data collection and analysis time. Utilizing an engineered cell ... line model of actionable BRAF-V600E mutation, we observed statistically significant differences in 10 s ...

Abstract	Rapid molecular profiling of biological tissues with picosecond infrared laser mass spectrometry (PIRL-MS) has enabled the detection of clinically important histologic types and molecular subtypes of human cancers in as little as 10 s of data collection and analysis time. Utilizing an engineered cell line model of actionable BRAF-V600E mutation, we observed statistically significant differences in 10 s PIRL-MS molecular profiles between BRAF-V600E and BRAF-wt cells. Multivariate statistical analyses revealed a list of mass-to-charge (
MeSH term(s)	Humans ; Proto-Oncogene Proteins B-raf/genetics ; Melanoma/genetics ; Tandem Mass Spectrometry ; Cell Extracts ; Mutation ; Lipids
Chemical Substances	Proto-Oncogene Proteins B-raf (EC 2.7.11.1) ; Cell Extracts ; Lipids ; BRAF protein, human (EC 2.7.11.1)
Language	English
Publishing date	2023-09-11
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1508-8
ISSN	1520-6882 ; 0003-2700
ISSN (online)	1520-6882
ISSN	0003-2700
DOI	10.1021/acs.analchem.3c02901
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Zs.A 4033: Show issues

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Book ; Online: Effects of Racial Segregation on Economic Productivity in U.S. Cities

Stier, Andrew J. / Sajjadi, Sina / Bettencourt, Luıs M. A. / Karimi, Fariba / Berman, Marc G.

2022

Abstract: ... residential racial heterophobia and segregation in U.S. cities are associated with reduced economic outputs ... the economic performance and connectivity of urban societies in the U.S. ...

Abstract	Homophily and heterophobia, the tendency for people with similar characteristics to preferentially interact with (or avoid) each other are pervasive in human social networks. Here, we develop an extension of the mathematical theory of urban scaling which describes the effects of homophily and heterophobia on social interactions and resulting economic outputs of cities. Empirical tests of our model show that increased residential racial heterophobia and segregation in U.S. cities are associated with reduced economic outputs and that the strength of this relationship increased throughout the 2010s. Our findings provide the means for the formal incorporation of general homophilic and heterophobic effects into theories of modern urban science and suggest that racial segregation is increasingly and adversely impacting the economic performance and connectivity of urban societies in the U.S.
Keywords	Quantitative Biology - Populations and Evolution
Publishing date	2022-12-06
Publishing country	us
Document type	Book ; Online
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Article ; Online: A cross-sectional analysis of compassion fatigue, burnout, and compassion satisfaction in pediatric surgeons in the U.S.

Sarosi, Alex / Coakley, Brian A / Berman, Loren / Mueller, Claudia M / Rialon, Kristy L / Brandt, Mary L / Heiss, Kurt / Weintraub, Andrea S

Journal of pediatric surgery

2021 Volume 56, Issue 8, Page(s) 1276–1284

Abstract: Background/purpose: To determine the prevalence of compassion fatigue (CF), burnout (BO), and compassion satisfaction (CS) and identify potential predictors of these phenomena in pediatric surgeons.: Methods: The Compassion Fatigue and Satisfaction ... ...

Abstract	Background/purpose: To determine the prevalence of compassion fatigue (CF), burnout (BO), and compassion satisfaction (CS) and identify potential predictors of these phenomena in pediatric surgeons. Methods: The Compassion Fatigue and Satisfaction Self-Test and a survey of personal/professional characteristics were distributed electronically to American Pediatric Surgical Association members. Linear regression models for CF, BO, and CS as a function of potential risk factors were constructed. Results: The analyzeable study response rate was 25.7%. The prevalence of CF, BO, and CS was 22%, 24% and 22, respectively, which were similar to prevalences previously identified in pediatric subspecialists. Higher CF scores were significantly associated with: higher BO scores; solo practice; compensation; ≥5 operating days/week; current distress about a 'clinical situation'; mental health-care for work-related distress; and history of childhood surgery. Lower CF scores were significantly associated with 'talking with a life partner' about work-related distress. Higher BO scores were significantly associated with: higher CF scores; current distress about 'coworkers'; and 'keeping lawsuits confidential'. Lower BO scores were significantly associated with higher CS scores. Conclusions: CF, BO, and CS are distinct but highly related entities. Pediatric surgeons experience these phenomena at similar rates to other pediatric subspecialists. Establishing local channels for physician peer support may be particularly impactful.
MeSH term(s)	Burnout, Professional/epidemiology ; Child ; Compassion Fatigue/epidemiology ; Cross-Sectional Studies ; Empathy ; Humans ; Job Satisfaction ; Personal Satisfaction ; Quality of Life ; Surgeons ; Surveys and Questionnaires
Language	English
Publishing date	2021-02-04
Publishing country	United States
Document type	Journal Article
ZDB-ID	80165-3
ISSN	1531-5037 ; 0022-3468
ISSN (online)	1531-5037
ISSN	0022-3468
DOI	10.1016/j.jpedsurg.2021.01.046
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Article ; Online: What is a Resource? Representing Eurasia’s Pastoral/nomadic Development History in the IPBES Framework for Reconceptualized Resource Meanings

Callie Berman

Journal of Eurasian Studies, Vol

2024 Volume 15

Abstract: ... within historically non-sedentary societies. This article examines how Eurasia’s unique development history based ... the livestock element as the integrative mechanism giving the method for land use and Eurasia’s own resource ...

Abstract	The purpose of this article is to update the Intergovernmental Science-Policy Platform on Biodiversity and Ecosystem Services (IPBES) framework to reflect resource understandings arising within historically non-sedentary societies. This article examines how Eurasia’s unique development history based on livestock cultivation beget modes of understanding predicated in mobile life strategies and pastoral/nomadic interactions with the Eurasian geography. In contrast, prevailing resource ideas emphasize land relation histories of sedentary peoples. Using the IPBES framework, this article takes a novel approach to show how food and food customs reflect embedded resource understandings relevant to non-sedentary peoples. Empirical findings from sturgeon aquaculture facilities in the Caspian states of Azerbaijan, Kazakhstan, and Turkmenistan demonstrates sturgeon meat in customary cuisine connects Eurasian peoples to land knowledge instilled with its own resource meanings. This article updates the IPBES framework to incorporate the livestock element as the integrative mechanism giving the method for land use and Eurasia’s own resource concept. Incorporating the livestock variable within the IPBES framework to express the value accorded to mobility better represents the diversity of resource meaning-making processes. It also makes possible a consideration for how food and food customs enabling narrative transmit land appreciations and knowledges not adequately captured by conventional resource analyses.
Keywords	Geography (General) ; G1-922 ; Political science ; J
Language	English
Publishing date	2024-01-01T00:00:00Z
Publisher	SAGE Publishing
Document type	Article ; Online
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Article ; Online: Hand-Holding’s Effect on Children’s Pain Perception and Anxiety during Dental Anesthetic Injections

Johnny Kharouba / Gal Berman / Shlomo Elbaharay / Neta Kaplan / Izabella Efremenko / Sigalit Blumer

Journal of Clinical Medicine, Vol 12, Iss 21, p

2023 Volume 6825

Abstract: ... on children’s pain perception was tested, with the hypothesis that pain perception would be lower for children ... children’s anxiety levels and cooperation. Fifty-five children, who underwent dental treatment ... into two groups. In the study group, the assistant gently placed her hand on the patient’s hand during ...

Abstract	Local anesthetic injections are an essential tool in dentistry, particularly in pediatric dentistry. The needle penetrating the tissue can cause stress, anxiety, and pain. Studies have shown that using touch may alleviate pain and reduce patient anxiety. Yet, this has not been tested in pediatric dental patients. Therefore, this study examined the effect of hand-holding on children undergoing local anesthetic injections. Its effect on children’s pain perception was tested, with the hypothesis that pain perception would be lower for children whose hand was held by an assistant. Additionally, the study examined whether hand-holding would affect children’s anxiety levels and cooperation. Fifty-five children, who underwent dental treatment within the Department of Pediatric Dentistry at Tel Aviv University, were recruited. The patients were randomly divided into two groups. In the study group, the assistant gently placed her hand on the patient’s hand during the anesthetic injection. In the control group, the same treatment was performed without the hand being placed by the assistant. After the anesthetic injection, the child’s pain and anxiety levels were assessed using visual analog scales (VAS). The patients’ pulse was measured. The level of cooperation was evaluated using the “Frankl” scale. Interestingly, although the trends aligned with this study’s hypotheses, no significant effect of hand-holding on pain, anxiety, or cooperation during anesthetic injections was found.
Keywords	children ; pain ; anxiety ; local anesthetic injection ; dentistry ; hand-holding ; Medicine ; R
Subject code	150
Language	English
Publishing date	2023-10-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
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Article ; Online: S-adenosyl-l-methionine (SAMe), cannabidiol (CBD), and kratom in psychiatric disorders: Clinical and mechanistic considerations.

Taylor Levine, M / Gao, Jin / Satyanarayanan, Senthil Kumaran / Berman, Sarah / Rogers, Jack T / Mischoulon, David

Brain, behavior, and immunity

2019 Volume 85, Page(s) 152–161

Abstract: ... The best studied and best supported of these three remedies is S-adenosyl-l-methionine (SAMe), a methyl ...

Abstract	Given the limitations of prescription antidepressants, many individuals have turned to natural remedies for the management of their mood disorders. We review three selected natural remedies that may be of potential use as treatments for depressive disorders and other psychiatric or neurological conditions. The best studied and best supported of these three remedies is S-adenosyl-l-methionine (SAMe), a methyl donor with a wide range of physiological functions in the human organism. With the increasing legalization of cannabis-related products, cannabidiol (CBD) has gained popularity for various potential indications and has even obtained approval in the United States and Canada for certain neurological conditions. Kratom, while potentially useful for certain individuals with psychiatric disorders, is perhaps the most controversial of the three remedies, in view of its greater potential for abuse and dependence. For each remedy, we will review indications, doses and delivery systems, potential anti-inflammatory and immunomodulatory action, adverse effects, and will provide recommendations for clinicians who may be considering prescribing these remedies in their practice.
MeSH term(s)	Canada ; Cannabidiol/therapeutic use ; Humans ; Mental Disorders/drug therapy ; Mitragyna ; S-Adenosylmethionine ; United States
Chemical Substances	Cannabidiol (19GBJ60SN5) ; S-Adenosylmethionine (7LP2MPO46S)
Language	English
Publishing date	2019-07-10
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	639219-2
ISSN	1090-2139 ; 0889-1591
ISSN (online)	1090-2139
ISSN	0889-1591
DOI	10.1016/j.bbi.2019.07.013
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Zs.A 2276: 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: Changes in U.S. air pollution during the COVID-19 pandemic.

Berman, Jesse D / Ebisu, Keita

The Science of the total environment

2020 Volume 739, Page(s) 139864

Abstract: The COVID-19 global pandemic has likely affected air quality due to extreme changes in human behavior. We assessed air quality during the COVID-19 pandemic for fine particulate matter ( ... ...

Abstract	The COVID-19 global pandemic has likely affected air quality due to extreme changes in human behavior. We assessed air quality during the COVID-19 pandemic for fine particulate matter (PM
MeSH term(s)	Air Pollutants/analysis ; Air Pollution/analysis ; Betacoronavirus ; COVID-19 ; Coronavirus Infections ; Humans ; Pandemics ; Particulate Matter/analysis ; Pneumonia, Viral/epidemiology ; SARS-CoV-2 ; United States
Chemical Substances	Air Pollutants ; Particulate Matter
Keywords	covid19
Language	English
Publishing date	2020-06-01
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	121506-1
ISSN	1879-1026 ; 0048-9697
ISSN (online)	1879-1026
ISSN	0048-9697
DOI	10.1016/j.scitotenv.2020.139864
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