CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients
Eur J Paediatr Neurol. 2021 May 26;33:75-85. doi: 10.1016/j.ejpn.2021.05.010. Online ahead of print.ABSTRACTCACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly documented. We studied 18 patients (10 males) carrying de novo or inherited CACNA1A mutations, with median age of 2,5 years at epilepsy onset. Eight mutations were novel. Two variants known leading to gain of function (GOF) were found in 5 patients. Five other patients had non-sense variants leading to loss of function ...
Source: European Journal of Paediatric Neurology - June 8, 2021 Category: Neurology Authors: Marie Le Roux Magalie Barth Sophie Gueden Patrick Desbordes de Cepoy Alec Aeby Catheline Vilain Edouard Hirsch Anne de Saint Martin Vincent des Portes Ga ëtan Lesca Audrey Riquet Laurence Chaton Nathalie Villeneuve Laurent Villard Claude Cances Luc Valto Source Type: research
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients
Eur J Paediatr Neurol. 2021 May 26;33:75-85. doi: 10.1016/j.ejpn.2021.05.010. Online ahead of print.ABSTRACTCACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly documented. We studied 18 patients (10 males) carrying de novo or inherited CACNA1A mutations, with median age of 2,5 years at epilepsy onset. Eight mutations were novel. Two variants known leading to gain of function (GOF) were found in 5 patients. Five other patients had non-sense variants leading to loss of function ...
Source: European Journal of Paediatric Neurology - June 8, 2021 Category: Neurology Authors: Marie Le Roux Magalie Barth Sophie Gueden Patrick Desbordes de Cepoy Alec Aeby Catheline Vilain Edouard Hirsch Anne de Saint Martin Vincent des Portes Ga ëtan Lesca Audrey Riquet Laurence Chaton Nathalie Villeneuve Laurent Villard Claude Cances Luc Valto Source Type: research
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients
Eur J Paediatr Neurol. 2021 May 26;33:75-85. doi: 10.1016/j.ejpn.2021.05.010. Online ahead of print.ABSTRACTCACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly documented. We studied 18 patients (10 males) carrying de novo or inherited CACNA1A mutations, with median age of 2,5 years at epilepsy onset. Eight mutations were novel. Two variants known leading to gain of function (GOF) were found in 5 patients. Five other patients had non-sense variants leading to loss of function ...
Source: European Journal of Paediatric Neurology - June 8, 2021 Category: Neurology Authors: Marie Le Roux Magalie Barth Sophie Gueden Patrick Desbordes de Cepoy Alec Aeby Catheline Vilain Edouard Hirsch Anne de Saint Martin Vincent des Portes Ga ëtan Lesca Audrey Riquet Laurence Chaton Nathalie Villeneuve Laurent Villard Claude Cances Luc Valto Source Type: research
[ASAP] Mg(II) and Ca(II) Microsolvation by Ammonia: Born –Oppenheimer Molecular Dynamics Studies
The Journal of Physical Chemistry ADOI: 10.1021/acs.jpca.1c02815 (Source: Journal of Physical Chemistry A)
Source: Journal of Physical Chemistry A - May 24, 2021 Category: Chemistry Authors: C. I. Leo ́n-Pimentel, H. Saint-Martin, and A. Ramírez-Solís Source Type: research
Clinical and community genetics services in the Dutch Caribbean
AbstractThe Caribbean part of the Kingdom of the Netherlands consists of six islands: Aruba, Bonaire, Cura çao, St. Maarten, St. Eustatius, and Saba. Because of their small size and relative remoteness, they face several economic and healthcare challenges, including limited access to genetics services. In this article, we provide an overview of the clinical and community genetics services that are avail able in the Dutch Caribbean. In particular, we describe our joint pediatric-genetics clinic with a visiting clinical geneticist that was established in 2011 to provide clinical genetics services for the pediatric populatio...
Source: Journal of Community Genetics - March 10, 2021 Category: Genetics & Stem Cells Source Type: research
Compensation of damage in cancerology
This article does not discuss the imputability of cancer pathologies to an event, but it proposes an adaptation of methods for assessing damages, in an attempt to provide full compensation for damages.PMID:33678407 | DOI:10.1016/j.bulcan.2020.11.021 (Source: Bulletin du Cancer)
Source: Bulletin du Cancer - March 8, 2021 Category: Cancer & Oncology Authors: Fabrice H érin Fr édéric Savall Pauline Saint-Martin Norbert Telmon Source Type: research
Compensation of damage in cancerology
This article does not discuss the imputability of cancer pathologies to an event, but it proposes an adaptation of methods for assessing damages, in an attempt to provide full compensation for damages.PMID:33678407 | DOI:10.1016/j.bulcan.2020.11.021 (Source: Bulletin du Cancer)
Source: Bulletin du Cancer - March 8, 2021 Category: Cancer & Oncology Authors: Fabrice H érin Fr édéric Savall Pauline Saint-Martin Norbert Telmon Source Type: research
Apheresis Physician Well-Being During the COVID-19 Pandemic: Results of a Survey
CONCLUSION: There is a widespread decline in AP well-being during the COVID-19 pandemic that was not adequately improved by institutional or personal resources/actions taken. Institutions and physicians must work together to implement strategies including resources and actions that could further improve AP physician well-being during a public health crisis.PMID:33619750 | DOI:10.1111/trf.16340 (Source: Transfusion)
Source: Transfusion - February 23, 2021 Category: Hematology Authors: Yvette C Tanhehco Yanhua Li Nicole D Zantek Joanne Becker Mohamed Alsammak Kael Mikesell Ding Wen Wu Tisha Foster Vishesh Chhibber Marisa Saint Martin Gay Wehrli Source Type: research
Apheresis Physician Well-Being During the COVID-19 Pandemic: Results of a Survey
CONCLUSION: There is a widespread decline in AP well-being during the COVID-19 pandemic that was not adequately improved by institutional or personal resources/actions taken. Institutions and physicians must work together to implement strategies including resources and actions that could further improve AP physician well-being during a public health crisis.PMID:33619750 | DOI:10.1111/trf.16340 (Source: Transfusion)
Source: Transfusion - February 23, 2021 Category: Hematology Authors: Yvette C Tanhehco Yanhua Li Nicole D Zantek Joanne Becker Mohamed Alsammak Kael Mikesell Ding Wen Wu Tisha Foster Vishesh Chhibber Marisa Saint Martin Gay Wehrli Source Type: research
Isolated bilateral congenital lacrimal gland agenesis—a case series
Publication date: Available online 16 February 2021Source: Journal of American Association for Pediatric Ophthalmology and StrabismusAuthor(s): Nebras Alghazawi, Milad Modabber, Rami Darwich, Avi Saskin, Laura Russell, Christine Saint-Martin, Ayesha Khan (Source: Journal of American Association for Pediatric Ophthalmology and Strabismus)
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - February 16, 2021 Category: Opthalmology Source Type: research
Isolated bilateral congenital lacrimal gland agenesis —a case series
(Source: Journal of AAPOS)
Source: Journal of AAPOS - February 15, 2021 Category: Opthalmology Authors: Nebras Alghazawi, Milad Modabber, Rami Darwich, Avi Saskin, Laura Russell, Christine Saint-Martin, Ayesha Khan Tags: Short Report Source Type: research
Whole Exome Sequencing, a hypothesis-free approach to investigate Recurrent Early Miscarriage
Publication date: Available online 19 January 2021Source: Reproductive BioMedicine OnlineAuthor(s): Lenaick Gourhant, Ozvan Bocher, Luc De Saint Martin, Thomas E Ludwig, Anne Boland, Jean F Deleuze, Philippe Merviel, Pierre F Dupré, Catherine A Lemarié, Francis Couturaud, Cédric Le Maréchal, Emmanuelle Génin, Elisabeth Pasquier (Source: Reproductive BioMedicine Online)
Source: Reproductive BioMedicine Online - January 20, 2021 Category: Reproduction Medicine Source Type: research
A radiomics pipeline dedicated to Breast MRI: validation on a multi-scanner phantom study.
DISCUSSION: A dedicated standardisation pipeline was developed to reduce variabilities in breast MRI, which paves the way for robust multi-scanner radiomic studies but needs to be assessed on patient data.
PMID: 33180226 [PubMed - as supplied by publisher] (Source: Magma)
Source: Magma - November 12, 2020 Category: Radiology Authors: Saint Martin MJ, Orlhac F, Akl P, Khalid F, Nioche C, Buvat I, Malhaire C, Frouin F Tags: MAGMA Source Type: research
High-dose proton therapy and tomotherapy for the treatment of sacral chordoma: a retrospective monocentric study.
CONCLUSION: RT remains essential to improve local control in sacral chordoma. The combination of proton and photon seems to improve organ at risk sparing, resulting in a decreased rate of reported late toxicities.
PMID: 33095672 [PubMed - as supplied by publisher] (Source: Acta Oncologica)
Source: Acta Oncologica - October 23, 2020 Category: Cancer & Oncology Authors: Beddok A, Saint-Martin C, Mammar H, Feuvret L, Helfre S, Bolle S, Froelich S, Goudjil F, Zefkili S, Amessis M, Peurien D, Cornet S, Dendale R, Alapetite C, Calugaru V Tags: Acta Oncol Source Type: research
