Iron deficiency anemia in pregnancy and the postpartum: a practical approach by the Italian GOAL Working Group.

Background: Iron deficiency and iron deficiency anemia represent global health issues, particularly during pregnancy and the postpartum. The present paper aims to summarize the appropriate management of these conditions in order to try to improve how clinicians perceive, diagnose and treat iron deficiency and iron deficiency anemia.

Methods: An expert panel of Italian obstetricians of Lazio region was convened to evaluate the available literature on iron deficiency and iron deficiency anemia during pregnancy and the post-partum in order to try to define a flow chart on the appropriate management of such conditions; aspects related to the patient blood management have also been investigated.

Assessment of the FRET-based Teen sensor to monitor ERK activation changes preceding morphological defects in a RASopathy zebrafish model and phenotypic rescue by MEK inhibitor.

Background: RASopathies are genetic syndromes affecting development and having variable cancer predisposition. These disorders are clinically related and are caused by germline mutations affecting key players and regulators of the RAS-MAPK signaling pathway generally leading to an upregulated ERK activity. Gain-of-function (GOF) mutations in PTPN11, encoding SHP2, a cytosolic protein tyrosine phosphatase positively controlling RAS function, underlie approximately 50% of Noonan syndromes (NS), the most common RASopathy.

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.

The endosomal sorting complex required for transport (ESCRT) machinery is essential for membrane remodeling and autophagy and it comprises three multi-subunit complexes (ESCRT I-III). We report nine individuals from six families presenting with a spectrum of neurodevelopmental/neurodegenerative features caused by bi-allelic variants in SNF8 (GenBank: NM_007241.4), encoding the ESCRT-II subunit SNF8.

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.

Vesicle biogenesis, trafficking and signaling via Endoplasmic reticulum-Golgi network support essential developmental processes and their disruption lead to neurodevelopmental disorders and neurodegeneration. We report that de novo missense variants in ARF3, encoding a small GTPase regulating Golgi dynamics, cause a developmental disease in humans impairing nervous system and skeletal formation. Microcephaly-associated ARF3 variants affect residues within the guanine nucleotide binding pocket and variably perturb protein stability and GTP/GDP binding.

Obesity in pregnancy as a model to identify women at risk for later metabolic syndrome.

The aim of our study is to identify - in a cohort of obese women - cardiovascular and clinical risk factors in women with previous complicated pregnancies and protective factors in women with previous physiological pregnancies. A total of 135 nonpregnant obese women referring to Policlinico Gemelli in Rome were prospectively collected in 2009-2010. Thirty-two women matched inclusion criteria: 16 reported a previous physiological pregnancy and 16 reported previous obstetric complications.