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Article ; Online: The role of three-dimensional printing in coronavirus disease-19 medical management: A French nationwide survey.

Daoulas, Thomas / Bizaoui, Varoona / Dubrana, Frédéric / Di Francia, Rémi

Annals of 3D printed medicine

2021 Volume 1, Page(s) 100001

Abstract: Objectives: Coronavirus disease-19 (COVID-19) has spread worldwide and poses various challenges to healthcare services. The limited supply of medical and personal-protective equipment has affected the ability of many countries to respond to the crisis. ... ...

Abstract	Objectives: Coronavirus disease-19 (COVID-19) has spread worldwide and poses various challenges to healthcare services. The limited supply of medical and personal-protective equipment has affected the ability of many countries to respond to the crisis. Three-dimensional printing (3DP) is well suited to addressing these shortages. We assessed the medical role of 3DP during the COVID-19 outbreak in hospitals in France. Design: Retrospective survey. Setting and intervention: We included and questioned all French level-1 and -2 COVID-certified centers. Participants: One hundred and thirty-eight COVID-certified centers were contacted across France: 38 (27.5 %) level 1 and 100 (72.5 %) level 2 centers. The analysis focused on 133 centers (96.37 %), among which 98 (73.68 %) used 3DP. Main outcome measures: The primary endpoint was the number of pieces printed in 3D. The secondary endpoints were the mode, type, and benefits of 3DP. Results: The total number of pieces printed in 3D nationwide was 84,886: 76,000 pieces of individual protective equipment (IPE) (89.53 %), 6335 pieces of biomedical equipment (7.47 %), and 2551 prototypes (3.01 %). In 91 cases (92.85 %), 3DP was performed using external printers. The pieces 3D-printed by the various centers helped around 6109 patients and protected around 41,091 caregivers. Conclusions: 3DP produced more than 84,000 pieces at 98 centers, helped more than 6000 patients, and protected more than 41,000 caregivers. Therefore, 3DP played a major role in medical aid during the COVID-19 outbreak in France.
Language	English
Publishing date	2021-03-19
Publishing country	France
Document type	Journal Article
ISSN	2666-9641
ISSN (online)	2666-9641
DOI	10.1016/j.stlm.2020.100001
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.

Bourgois, Alexia / Bizaoui, Varoona / Colson, Cindy / Vincent-Devulder, Aline / Molin, Arnaud / Gérard, Marion / Gruchy, Nicolas

American journal of medical genetics. Part A

2023 Volume 194, Issue 3, Page(s) e63457

Abstract: Recurrent 1q21.1 copy number variants (CNVs) have been associated with a wide spectrum of clinical features, ranging from normal phenotype to moderate intellectual disability, with congenital anomalies and dysmorphic features. They are often inherited ... ...

Abstract	Recurrent 1q21.1 copy number variants (CNVs) have been associated with a wide spectrum of clinical features, ranging from normal phenotype to moderate intellectual disability, with congenital anomalies and dysmorphic features. They are often inherited from unaffected parents and the pathogenicity is difficult to assess. We describe the phenotypic and genotypic data for 34 probands carrying CNVs in the 1q21.1 chromosome region (24 duplications, 8 deletions and 2 triplications). We also reviewed 89 duplications, 114 deletions and 5 triplications described in the literature, at variable 1q21.1 locations. We aimed to identify the most highly associated clinical features to determine the phenotypic expression in affected individuals. Developmental delay or learning disabilities and neuropsychiatric disorders were common in patients with deletions, duplications and triplications of 1q21.1. Mild dysmorphic features common in these CNVs include a prominent forehead, widely spaced eyes and a broad nose. The CNVs were mostly inherited from apparently unaffected parents. Almost half of the CNVs were distal, overlapping with a common minimal region of 1.2 Mb. We delineated the clinical implications of 1q21.1 CNVs and confirmed that these CNVs are likely pathogenic, although subject to incomplete penetrance and variable expressivity. Long-term follow-up should be performed to each newly diagnosed case, and prenatal genetic counseling cautiously discussed, as it remains difficult to predict the phenotype in the event of an antenatal diagnosis.
MeSH term(s)	Humans ; Female ; Pregnancy ; DNA Copy Number Variations/genetics ; Phenotype ; Genotype ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Prenatal Diagnosis
Language	English
Publishing date	2023-10-26
Publishing country	United States
Document type	Review ; 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.63457
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Article: The role of three-dimensional printing in coronavirus disease-19 medical management: A French nationwide survey

Daoulas, Thomas / Bizaoui, Varoona / Dubrana, Frédéric Di Francia / Rémi,

Annals of 3D Printed Medicine

Abstract: OBJECTIVES: Coronavirus disease-19 (COVID-19) has spread worldwide and poses various challenges to healthcare services The limited supply of medical and personal-protective equipment has affected the ability of many countries to respond to the crisis ... ...

Abstract	OBJECTIVES: Coronavirus disease-19 (COVID-19) has spread worldwide and poses various challenges to healthcare services The limited supply of medical and personal-protective equipment has affected the ability of many countries to respond to the crisis Three-dimensional printing (3DP) is well suited to addressing these shortages We assessed the medical role of 3DP during the COVID-19 outbreak in hospitals in France DESIGN: Retrospective survey SETTING AND INTERVENTION: We included and questioned all French level-1 and -2 COVID-certified centers PARTICIPANTS: One hundred and thirty-eight COVID-certified centers were contacted across France: 38 (27 5 %) level 1 and 100 (72 5 %) level 2 centers The analysis focused on 133 centers (96 37 %), among which 98 (73 68 %) used 3DP MAIN OUTCOME MEASURES: The primary endpoint was the number of pieces printed in 3D The secondary endpoints were the mode, type, and benefits of 3DP RESULTS: The total number of pieces printed in 3D nationwide was 84,886: 76,000 pieces of individual protective equipment (IPE) (89 53 %), 6335 pieces of biomedical equipment (7 47 %), and 2551 prototypes (3 01 %) In 91 cases (92 85 %), 3DP was performed using external printers The pieces 3D-printed by the various centers helped around 6109 patients and protected around 41,091 caregivers CONCLUSIONS: 3DP produced more than 84,000 pieces at 98 centers, helped more than 6000 patients, and protected more than 41,000 caregivers Therefore, 3DP played a major role in medical aid during the COVID-19 outbreak in France
Keywords	covid19
Publisher	WHO
Document type	Article
Note	WHO #Covidence: #824121
Database	COVID19

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Article ; Online: Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency

Roberto Oleari / Antonella Lettieri / Stefano Manzini / Alyssa Paganoni / Valentina André / Paolo Grazioli / Marco Busnelli / Paolo Duminuco / Antonio Vitobello / Christophe Philippe / Varoona Bizaoui / Helen L. Storr / Federica Amoruso / Fani Memi / Valeria Vezzoli / Valentina Massa / Peter Scheiffele / Sasha R. Howard / Anna Cariboni

Disease Models & Mechanisms, Vol 16, Iss

2023 Volume 3

Keywords	gnrh neurons ; transcriptome ; nlgn3 ; neuritogenesis ; delayed puberty ; autism spectrum disorder ; Medicine ; R ; Pathology ; RB1-214
Language	English
Publishing date	2023-03-01T00:00:00Z
Publisher	The Company of Biologists
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency.

Oleari, Roberto / Lettieri, Antonella / Manzini, Stefano / Paganoni, Alyssa / André, Valentina / Grazioli, Paolo / Busnelli, Marco / Duminuco, Paolo / Vitobello, Antonio / Philippe, Christophe / Bizaoui, Varoona / Storr, Helen L / Amoruso, Federica / Memi, Fani / Vezzoli, Valeria / Massa, Valentina / Scheiffele, Peter / Howard, Sasha R / Cariboni, Anna

Disease models & mechanisms

2023 Volume 16, Issue 3

Abstract: Gonadotropin-releasing hormone (GnRH) deficiency (GD) is a disorder characterized by absent or delayed puberty, with largely unknown genetic causes. The purpose of this study was to obtain and exploit gene expression profiles of GnRH neurons during ... ...

Abstract	Gonadotropin-releasing hormone (GnRH) deficiency (GD) is a disorder characterized by absent or delayed puberty, with largely unknown genetic causes. The purpose of this study was to obtain and exploit gene expression profiles of GnRH neurons during development to unveil novel biological mechanisms and genetic determinants underlying GD. Here, we combined bioinformatic analyses of immortalized and primary embryonic GnRH neuron transcriptomes with exome sequencing from GD patients to identify candidate genes implicated in the pathogenesis of GD. Among differentially expressed and filtered transcripts, we found loss-of-function (LoF) variants of the autism-linked neuroligin 3 (NLGN3) gene in two unrelated patients co-presenting with GD and neurodevelopmental traits. We demonstrated that NLGN3 is upregulated in maturing GnRH neurons and that NLGN3 wild-type, but not mutant, protein promotes neuritogenesis when overexpressed in developing GnRH cells. Our data represent proof of principle that this complementary approach can identify new candidate GD genes and demonstrate that LoF NLGN3 variants can contribute to GD. This novel genotype-phenotype correlation implies common genetic mechanisms underlying neurodevelopmental disorders, such as GD and autistic spectrum disorder.
MeSH term(s)	Humans ; Autistic Disorder/genetics ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/metabolism ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Gonadotropin-Releasing Hormone/metabolism
Chemical Substances	neuroligin 3 ; Nerve Tissue Proteins ; Membrane Proteins ; Gonadotropin-Releasing Hormone (33515-09-2)
Language	English
Publishing date	2023-03-28
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2451104-3
ISSN	1754-8411 ; 1754-8403
ISSN (online)	1754-8411
ISSN	1754-8403
DOI	10.1242/dmm.049996
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Article ; Online: The role of three-dimensional printing in coronavirus disease-19 medical management: A French nationwide survey

Daoulas, Thomas / Bizaoui, Varoona / Dubrana, Frédéric / Di Francia, Rémi

Abstract: Abstract Objectives Coronavirus disease-19 (COVID-19) has spread worldwide and poses various challenges to healthcare services. The limited supply of medical and personal-protective equipment has affected the ability of many countries to respond to the ... ...

Abstract	Abstract Objectives Coronavirus disease-19 (COVID-19) has spread worldwide and poses various challenges to healthcare services. The limited supply of medical and personal-protective equipment has affected the ability of many countries to respond to the crisis. Three-dimensional printing (3DP) is well suited to addressing these shortages. We assessed the medical role of 3DP during the COVID-19 outbreak in hospitals in France. Design Retrospective survey. Setting and intervention We included and questioned all French level-1 and -2 COVID-certified centers. Participants One hundred and thirty-eight COVID-certified centers were contacted across France: 38 (27.5 %) level 1 and 100 (72.5 %) level 2 centers. The analysis focused on 133 centers (96.37 %), among which 98 (73.68 %) used 3DP. Main outcome measures The primary endpoint was the number of pieces printed in 3D. The secondary endpoints were the mode, type, and benefits of 3DP. Results The total number of pieces printed in 3D nationwide was 84,886: 76,000 pieces of individual protective equipment (IPE) (89.53 %), 6335 pieces of biomedical equipment (7.47 %), and 2551 prototypes (3.01 %). In 91 cases (92.85 %), 3DP was performed using external printers. The pieces 3D-printed by the various centers helped around 6109 patients and protected around 41,091 caregivers. Conclusions 3DP produced more than 84,000 pieces at 98 centers, helped more than 6000 patients, and protected more than 41,000 caregivers. Therefore, 3DP played a major role in medical aid during the COVID-19 outbreak in France.
Keywords	covid19
Publisher	Elsevier; PMC
Document type	Article ; Online
DOI	10.1016/j.stlm.2020.100001
Database	COVID19

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Article ; Online: The role of three-dimensional printing in coronavirus disease-19 medical management

Daoulas, Thomas / Bizaoui, Varoona / Dubrana, Frédéric / Di Francia, Rémi

Annals of 3D Printed Medicine, 1:100001

A French nationwide survey

2020

Abstract: OBJECTIVES Coronavirus disease-19 (COVID-19) has spread worldwide and poses various challenges to healthcare services. The limited supply of medical and personal-protective equipment has affected the ability of many countries to respond to the crisis. ... ...

Abstract	OBJECTIVES Coronavirus disease-19 (COVID-19) has spread worldwide and poses various challenges to healthcare services. The limited supply of medical and personal-protective equipment has affected the ability of many countries to respond to the crisis. Three-dimensional printing (3DP) is well suited to addressing these shortages. We assessed the medical role of 3DP during the COVID-19 outbreak in hospitals in France. DESIGN Retrospective survey. SETTING AND INTERVENTION We included and questioned all French level-1 and -2 COVID-certified centers. PARTICIPANTS One hundred and thirty-eight COVID-certified centers were contacted across France: 38 (27.5 %) level 1 and 100 (72.5 %) level 2 centers. The analysis focused on 133 centers (96.37 %), among which 98 (73.68 %) used 3DP. MAIN OUTCOMES MEASURES The primary endpoint was the number of pieces printed in 3D. The secondary endpoints were the mode, type, and benefits of 3DP. RESULTS The total number of pieces printed in 3D nationwide was 84,886: 76,000 pieces of individual protective equipment (IPE) (89.53 %), 6335 pieces of biomedical equipment (7.47 %), and 2551 prototypes (3.01 %). In 91 cases (92.85 %), 3DP was performed using external printers. The pieces 3D-printed by the various centers helped around 6109 patients and protected around 41,091 caregivers. CONCLUSIONS 3DP produced more than 84,000 pieces at 98 centers, helped more than 6000 patients, and protected more than 41,000 caregivers. Therefore, 3DP played a major role in medical aid during the COVID-19 outbreak in France.
Keywords	COVID-19 ; SARS COV-2 ; France ; 3D printing ; Additive manufacturing ; Survey ; covid19
Language	English
Publishing country	de
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

Bizaoui, Varoona / Huber, Céline / Kohaut, Eva / Roume, Joelle / Bonnière, Maryse / Attié-Bitach, Tania / Cormier-Daire, Valérie

American journal of medical genetics. Part A

2019 Volume 179, Issue 4, Page(s) 639–644

Abstract: We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer-Langer syndrome (BLS) or BLS-like phenotypes. We discuss the implication of the IFT80 gene in ciliopathies, and its diagnostic value ... ...

Abstract	We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer-Langer syndrome (BLS) or BLS-like phenotypes. We discuss the implication of the IFT80 gene in ciliopathies, and its diagnostic value for BLS among other SRPS.
MeSH term(s)	Carrier Proteins/genetics ; Female ; Fetus/abnormalities ; Fetus/metabolism ; Fetus/pathology ; Humans ; Male ; Mutation ; Pedigree ; Phenotype ; Prenatal Diagnosis ; Short Rib-Polydactyly Syndrome/genetics ; Short Rib-Polydactyly Syndrome/pathology
Chemical Substances	Carrier Proteins ; IFT80 protein, human
Language	English
Publishing date	2019-02-14
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.61050
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: RASopathies are associated with a distinct personality profile.

Bizaoui, Varoona / Gage, Jessica / Brar, Rita / Rauen, Katherine A / Weiss, Lauren A

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

2018 Volume 177, Issue 4, Page(s) 434–446

Abstract: Personality is a complex, yet partially heritable, trait. Although some Mendelian diseases like Williams-Beuren syndrome are associated with a particular personality profile, studies have failed to assign the personality features to a single gene or ... ...

Abstract	Personality is a complex, yet partially heritable, trait. Although some Mendelian diseases like Williams-Beuren syndrome are associated with a particular personality profile, studies have failed to assign the personality features to a single gene or pathway. As a family of monogenic disorders caused by mutations in the Ras/MAPK pathway known to influence social behavior, RASopathies are likely to provide insight into the genetic basis of personality. Eighty subjects diagnosed with cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, and Noonan syndrome were assessed using a parent-report BFQ-C (Big Five Questionnaire for Children) evaluating agreeableness, extraversion, conscientiousness, intellect/openness, and neuroticism, along with 55 unaffected sibling controls. A short questionnaire was added to assess sense of humor. RASopathy subjects and sibling controls were compared for individual components of personality, multidimensional personality profiles, and individual questions using Student tests, analysis of variance, and principal component analysis. RASopathy subjects were given lower scores on average compared to sibling controls in agreeableness, extraversion, conscientiousness, openness, and sense of humor, and similar scores in neuroticism. When comparing the multidimensional personality profile between groups, RASopathies showed a distinct profile from unaffected siblings, but no difference in this global profile was found within RASopathies, revealing a common profile for the Ras/MAPK-related disorders. In addition, several syndrome-specific strengths or weaknesses were observed in individual domains. We describe for the first time an association between a single pathway and a specific personality profile, providing a better understanding of the genetics underlying personality, and new tools for tailoring educational and behavioral approaches for individuals with RASopathies.
MeSH term(s)	Adolescent ; Adult ; Child ; Child, Preschool ; Costello Syndrome/genetics ; Costello Syndrome/physiopathology ; Ectodermal Dysplasia/physiopathology ; Facies ; Failure to Thrive/physiopathology ; Family ; Female ; Heart Defects, Congenital/physiopathology ; Humans ; MAP Kinase Signaling System/physiology ; Male ; Mutation ; Neurofibromatosis 1/physiopathology ; Noonan Syndrome/physiopathology ; Personality/physiology ; Personality Disorders/physiopathology ; Siblings ; ras Proteins/genetics ; ras Proteins/physiology
Chemical Substances	ras Proteins (EC 3.6.5.2)
Language	English
Publishing date	2018-04-16
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2143866-3
ISSN	1552-485X ; 1552-4841
ISSN (online)	1552-485X
ISSN	1552-4841
DOI	10.1002/ajmg.b.32632
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Speech and language deficits are central to SETBP1 haploinsufficiency disorder.

Morgan, Angela / Braden, Ruth / Wong, Maggie M K / Colin, Estelle / Amor, David / Liégeois, Frederique / Srivastava, Siddharth / Vogel, Adam / Bizaoui, Varoona / Ranguin, Kara / Fisher, Simon E / van Bon, Bregje W

European journal of human genetics : EJHG

2021 Volume 29, Issue 8, Page(s) 1216–1225

Abstract: Expressive communication impairment is associated with haploinsufficiency of SETBP1, as reported in small case series. Heterozygous pathogenic loss-of-function (LoF) variants in SETBP1 have also been identified in independent cohorts ascertained for ... ...

Abstract	Expressive communication impairment is associated with haploinsufficiency of SETBP1, as reported in small case series. Heterozygous pathogenic loss-of-function (LoF) variants in SETBP1 have also been identified in independent cohorts ascertained for childhood apraxia of speech (CAS), warranting further investigation of the roles of this gene in speech development. Thirty-one participants (12 males, aged 0; 8-23; 2 years, 28 with pathogenic SETBP1 LoF variants, 3 with 18q12.3 deletions) were assessed for speech, language and literacy abilities. Broader development was examined with standardised motor, social and daily life skills assessments. Gross and fine motor deficits (94%) and intellectual impairments (68%) were common. Protracted and aberrant speech development was consistently seen, regardless of motor or intellectual ability. We expand the linguistic phenotype associated with SETBP1 LoF syndrome (SETBP1 haploinsufficiency disorder), revealing a striking speech presentation that implicates both motor (CAS, dysarthria) and language (phonological errors) systems, with CAS (80%) being the most common diagnosis. In contrast to past reports, the understanding of language was rarely better preserved than language expression (29%). Language was typically low, to moderately impaired, with commensurate expression and comprehension ability. Children were sociable with a strong desire to communicate. Minimally verbal children (32%) augmented speech with sign language, gestures or digital devices. Overall, relative to general development, spoken language and literacy were poorer than social, daily living, motor and adaptive behaviour skills. Our findings show that poor communication is a central feature of SETBP1 haploinsufficiency disorder, confirming this gene as a strong candidate for speech and language disorders.
MeSH term(s)	Adolescent ; Carrier Proteins/genetics ; Child ; Female ; Haploinsufficiency ; Humans ; Language Development ; Male ; Nuclear Proteins/genetics ; Phenotype ; Speech Disorders/genetics ; Speech Disorders/pathology ; Young Adult
Chemical Substances	Carrier Proteins ; Nuclear Proteins ; SETBP1 protein, human
Language	English
Publishing date	2021-04-27
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/s41431-021-00894-x
Database	MEDical Literature Analysis and Retrieval System OnLINE

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