Uterine Arteriovenous Malformations.

Uterine arteriovenous malformations (AVMs) are an abnormal presence of shunts between myometrial arteries and veins within the myometrium that usually occurs after a traumatic event on the uterus and it is often diagnosed after a miscarriage. In this case report, we propone the case of a woman, gravida 3 para 2, admitted at the emergency department presenting deep vaginal bleeding and suspicion of incomplete miscarriage at 11 weeks of pregnancy. The suspect of AVM was made with noninvasive procedure; transvaginal ultrasound examination with the advantage of color Doppler showed a myometrial hypervascular lesion of the posterior wall.

Current protocols and clinical efficacy of human fetal liver cell therapy in patients with liver disease: A literature review.

The fetal liver is unique because of the coexistence of cells with endodermal and mesenchymal origins, making it a potential source of hepatic and pancreatic regenerative medicine. The liver appears at about the third week of gestation, growing rapidly from the fifth to the 10th week. We define fetal liver from 10 weeks of gestation, when hematopoietic progenitor cells gradually migrate from the aorta-mesonephros-gonad region to colonize the liver.

Pregnancy and perinatal outcomes in pregnancy with diagnosis of chorionic bump on first-trimester sonography: a systematic review and meta-analysis.

Objective: To assess the relationship between the presence of the sonographic finding of chorionic bump (CB) during first trimester and miscarriage rate or other perinatal outcomes.

Methods: PubMed, Medline, Embase, Cinahl and Clinicaltrials.gov databases, from inception to April 8, 2021 were explored utilizing combinations of the relevant medical subject heading (MeSH) terms, key words, and word variants for "CB" and "pregnancy.

Fetoscopic laser ablation in twin-to-twin transfusion syndrome: tips for counselling.

Twin-to-twin transfusion syndrome (TTTS) is a serious complication that affects approximately 10-15% of monochorionic twin pregnancies. The most important role for the development of this condition is the presence of an unbalanced flow through the inter-twin vascular anastomoses. Depending on the number, type and direction of the connecting vessels, blood can be transfused disproportionately from one twin (the donor) to the other twin (the recipient).

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.

Purpose: Recent studies have identified suggestive prenatal features of RASopathies (e.g., increased nuchal translucency [NT], cystic hygroma [CH], hydrops, effusions, congenital heart diseases [CHD], polyhydramnios, renal anomalies).

Pregnant women's knowledge and behaviour to prevent cytomegalovirus infection: an observational study.

Objectives: Congenital cytomegalovirus (cCMV) infection can negatively affect pregnancy outcomes, but may be prevented by simple precautions. Literature suggests that gynaecologists do not always adequately inform about preventive behaviour and most pregnant women have a low-level knowledge regarding cCMV infection. The aim of this study is to evaluate knowledge and risk behaviours related to cCMV infection in an unselected group of pregnant women.

Obstetrical and perinatal outcomes in fetuses with early versus late sonographic diagnosis of short femur length: A single-center, prospective, cohort study.

Objectives: The aim of this study was to evaluate obstetrical and perinatal outcomes in fetuses with short femur length diagnosed before or after 24 weeks of gestation.

Study Design: This was a prospective cohort study on singleton pregnancies with a diagnosis of fetal femur < 5 centile. Included patients were divided into two groups: patients with a first diagnosis of femur length < 5th percentile at 14-24 weeks (group A) and those with the first diagnosis made at > 24 weeks (group B).

An observational study to assess Italian obstetrics providers' knowledge about preventive practices and diagnosis of congenital cytomegalovirus.

Objectives: Congenital cytomegalovirus (cCMV) infection can be easily prevented by hygienic measures. Up to date the majority of the studies in literature highlighted a reduction in cCMV antenatal counseling and its prevention. Our purpose was to evaluate obstetrics providers' knowledge about cCMV infection, management and the behavioral practices to avoid it.

PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.

Inherited glycosylphosphatidylinositol (GPI) deficiencies are a group of clinically and genetically heterogeneous conditions belonging to the congenital disorders of glycosylation. PIGW is involved in GPI biosynthesis and modification, and biallelic pathogenic variants in this gene cause autosomal recessive GPI biosynthesis defect 11. Only five patients and two fetuses have been reported in the literature thus far.

Hypoplasia of the Corpus Callosum: A Single Center Experience and a Concise Literature Review.

Corpus callosum hypoplasia is described as a fully formed corpus callosum with reduced thickness. Our purpose is to evaluate the current knowledge about this anomaly including it's effect on the neurodevelopmental outcome and to report our single center experience. PubMed, Medline and reference lists were searched using combinations of these terms: "Hypoplasia of corpus callosum and prenatal diagnosis" and "neurodevelopmental outcome".

Congenital jugular vein phlebectasia or aneurysma: A rare entity in prenatal diagnosis.

Vascular malformations arising from the wall of the external jugular vein are rare and appeared most commonly in pediatric population. Here, we present a case of vascular malformation in the left external jugular vein diagnosed in a fetus during third trimester ultrasound. This is the first described case in prenatal diagnosis.

Functions and the Emerging Role of the Foetal Liver into Regenerative Medicine.

During foetal life, the liver plays the important roles of connection and transient hematopoietic function. Foetal liver cells develop in an environment called a hematopoietic stem cell niche composed of several cell types, where stem cells can proliferate and give rise to mature blood cells. Embryologically, at about the third week of gestation, the liver appears, and it grows rapidly from the fifth to 10th week under WNT/β-Catenin signaling pathway stimulation, which induces hepatic progenitor cells proliferation and differentiation into hepatocytes.

Update in non-invasive prenatal testing.

Non-invasive prenatal testing (NIPT) has revolutionized the approach to prenatal diagnosis and, to date, it is the most superior screening method for the common autosomal aneuploidies, mostly trisomy 21. This screening is having a significant population-wide impact on the uptake of conventional screening and diagnostic testing. In recent years, emerging genomic technologies, largely based around next generation sequencing, have expanded the analyses to the sub-chromosomal aneuploidies.

Biofilms and infections of the upper respiratory tract.

Biofilms are microbial communities consisting of bacteria that either are self-reproducing on biological surfaces or are present in the lifeless environment. Biofilms are quite diffuse entities frequently found in human pathological conditions. The formation of bacterial biofilms involves mainly the contamination of artificial medical devices, such as valves and catheters, and their direct implant on mucous membranes, with subsequent development of chronic or recurrent infections.

Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder causing vascular dysplasias. About 70-80% of HHT patients carries mutations in ENG or ACVRL1 genes, which code for a TGFbeta receptor type III and I respectively. Molecular data on a large cohort of Italian HHT patients are presented, discussing the significance of missense and splice site mutations.

Treatment of epistaxis in hereditary hemorrhagic telangiectasia patients by argon plasma coagulation with local anesthesia.

Background: Recurrent epistaxis is the most common manifestation of hereditary hemorrhagic telangiectasia (HHT). The aim of this study was to determine the role and efficacy of argon plasma coagulation (APC) in the management of epistaxis caused by HHT.

Methods: From 1997 to 2004, 43 patients with diagnosed HHT were treated for recurrent epistaxis with APC in our department.

Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia.

Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by the presence of telangiectases and arteriovenous malformations. In some families in whom a form of idiopathic pulmonary arterial hypertension cosegregated with HHT, mutations in the ACVRL1 gene were present.

Purpose: We noninvasively measured the pulmonary artery systolic pressure (PASP) in a group of patients with HHT.

Merkel cell carcinoma of the auricle.

Merkel cell carcinoma is a rare malignant tumor of the skin. The face and extremities are the most common locations. We present a case of Merkel cell carcinoma of the auricle in a 93-year-old man subsequently treated with surgery and radiotherapy.