Luc Rigonnot

Cyclosporin H Improves the Transduction of CD34 + Cells with an Anti-Sickling Globin Vector, a Possible Therapeutic Approach for Sickle Cell Disease

Mirella Mormin, Luc Rigonnot, Anne Chalumeau, Annarita Miccio et autres

Sickle cell disease (SCD) is a debilitating monogenic disease originating from mutations in the hemoglobin beta chain gene producing an abnormal hemoglobin HbS. The polymerization of HbS is responsible for the sickling of erythrocytes leading to anemia and vaso-occlusive events. Gene therapy …

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The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction

Nicoleta-Andreea Bobric, Julie Grevoul‐Fesquet, Luc Rigonnot, Detlef Trost et autres

Shwachman-Diamond Syndrome (SDS) is a rare autosomal recessive genetic condition with 90% of cases associated with biallelic pathogenic variants in the Shwachman-Bodian-Diamond Syndrome ( SBDS) gene on chromosome 7q.11.21. SDS belongs to ribosomopathies since SBDS gene encodes a protein involved in ribosomal …

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Neonatal outcomes for women at risk of preterm delivery given half dose versus full dose of antenatal betamethasone: a randomised, multicentre, double-blind, placebo-controlled, non-inferiority trial

Thomas Schmitz, Muriel Doret-Dion, Loı̈c Sentilhes, Olivier Parant et autres

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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Annie Laquerrière, Dana Jaber, Emanuela Abiusi, Jérôme Maluenda et autres

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole …

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Frequency of differential placental transfer to twins of maternal antiretroviral medications

Margaux Louchet, Gilles Peytavin, Hélène Didelot, Minh Lê et autres

BACKGROUND: Placental passage of drugs in twins is poorly understood, and is unknown regarding antiretrovirals (ARVs). In the event of large differences in the exposure of 2 twins to the same maternal therapy, this could have a clinical impact in terms of …

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Hemorrhagic shock due to irreducible uterine torsion in a third trimester twin pregnancy: A case report

J. Darido, Julie Grevoul Fesquet, J Diari, Chadia Haddad et autres

Uterine torsion is a rare life-threatening event that happens at any age or any gestational age. By definition, it consists of a rotation of more than 45 degrees around the long axis of the uterus. The reported cases have variable presentations. The …

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Retrospective Description of Pregnant Women Infected with Severe Acute Respiratory Syndrome Coronavirus 2, France

Alexandre Vivanti, J. Mattern, Christelle Vauloup‐Fellous, Jacques Jani et autres

cells/L). All women requiring oxygen >5 L/min were intubated. Clinical and laboratory evaluation of SARS-CoV-2-positive pregnant women at the time of diagnosis can identify patients at risk for ICU hospitalization.

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Triple negative breast cancer: Early stages management and evolution, a two years experience at the department of breast cancer of CHSF

Darido Jessie, Jed Diari, Chloé Dussour, J. Ezenfis et autres

Breast cancer is the most common cancer in women and is a major public health problem. It is divided into several subtypes, including triple negatives. The general objective of our study is to establish the profile and the management of patients with …

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A Case Report: Misdiagnosed Ectopic Cornual Rupture with Positive Fetal Heart at 13 Weeks Gestation

Jed Diari, Darido Jessie, BOUZID Nassima, El Haddad Cynthia et autres

Cornual pregnancy is an uncommon rare variant of ectopic pregnancies.Its diagnosis is challenging.Ruptured cornual pregnancy is still encountered nowadays with a very high consequent morbidity and mortality.We hereby report the case of a ruptured ectopic cornual pregnancy with positive fetal heart that …

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The Correlation Between COVID 19 and IUFD: Our Experience at a Tertiary Maternity Unit in France, the CHSF

Darido Jessie, Dussour Chloe, Lehrer Jade, Grevoul Fesquet Julie et autres

The data concerning this infection during pregnancy is still limited. Up until now there are no clear established correlations between the COVID 19 infection during pregnancy and its potential risks for the fetus including the stillbirth issue. At our center, the frequency …

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Neonatal Morbidity Associated With Vaginal Delivery of Noncephalic Second Twins

Thomas Schmitz, Diane Korb, Catherine Battie, Anne‐Gaël Cordier et autres

(Am J Obstet Gynecol. 2018;218:449.e1–e13) The American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine have recommended vaginal deliveries be attempted in women with cephalic/cephalic and cephalic/noncephalic presenting twins. However, survey data revealed >40% of US practitioners are reluctant …

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Neonatal morbidity associated with vaginal delivery of noncephalic second twins

Thomas Schmitz, Diane Korb, Catherine Battie, Anne‐Gaël Cordier et autres

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