Investigating the "Fetal Side" in Recurrent Pregnancy Loss: Reliability of Cell-Free DNA Testing in Detecting Chromosomal Abnormalities of Miscarriage Tissue.

(1) Background: The aim of our study is to evaluate whether cell-free DNA testing can overlap the genetic testing of miscarriage tissue in women with early pregnancy loss (EPL) and length of recurrent pregnancy loss (RPL); (2) Methods: We conducted a prospective cohort study at the Pregnancy Loss Unit of the Fondazione Policlinico Universitario A. Gemelli (IRCCS), Rome, Italy between May 2021 and March 2022. We included women with EPL and length of RPL.

Effects of Simulated Microgravity on Wild Type and Marfan hiPSCs-Derived Embryoid Bodies.

Background: Mechanical unloading in microgravity is thought to induce tissue degeneration by various mechanisms, including the inhibition of regenerative stem cell differentiation. In this work, we investigate the effects of microgravity simulation on early lineage commitment of hiPSCs from healthy and Marfan Syndrome (MFS; OMIM #154700) donors, using the embryoid bodies model of tissue differentiation and evaluating their ultra-structural conformation. MFS model involves an anomalous organization of the extracellular matrix for a deficit of fibrillin-1, an essential protein of connective tissue.

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.

Background: Marfan Syndrome (MFS) is a chronic, life-threatening, autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene, coding for fibrillin-1. All organ systems may be affected, but particularly the cardiovascular system, eyes, and skeleton. Mortality generally results from cardiovascular complications, mainly aortic dissection.

Primary dedifferentiated liposarcoma of the orbit, a rare entity: Case report and review of literature.

Head and neck liposarcomas are rare entities accounting for less than 5% of all liposarcomas. The primary orbital location is even rarer, with about 40 cases described in the English literature. According with the widely accepted classification of Enzinger and Weis there are 5 histologic variants of liposarcomas: well differentiated, myxoid, dedifferentiated, round cell and pleomorphic.

Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: significant association of twelve variants.

Age-related Macular Degeneration (AMD) represents one of the most sight-threatening diseases in developed countries that substantially impacts the patients' lifestyle by compromising everyday activities, such as reading and driving. In this context, understanding the prevalence, burden, and population-specific risk/protective factors of AMD is essential for adequate health care planning and provision. Our work aimed to characterize exudative AMD in Italian population and to identify the susceptibility/protective factors (genetic variants, age, sex, smoking and dietary habits) which are specific for the onset of disease.

Pharmacogenomics of multifactorial diseases: a focus on psoriatic arthritis.

This review will outline the current pharmacogenomics knowledge about psoriatic arthritis with a special attention to the perspectives and the challenges for its implementation in the clinical practice. To date, different drugs have been developed to contrast the symptoms and the progression of psoriatic arthritis. However, patients have shown high variability of drug response in relation to their genetic makeup.

Three-hour analysis of non-invasive foetal sex determination: application of Plexor chemistry.

Background: The knowledge of the individual genetic "status" in the prenatal era is particularly relevant in the case of positive family history for genetic diseases, in advanced maternal age and in the general screening for foetal abnormalities. In this context, here, we report an innovative molecular assay which utilizes the cell-free foetal DNA (cffDNA) as a source for the early and fast detection of the foetal sex. The study involved 132 pregnant women in their first 3 months of pregnancy, who agreed to give a blood sample.

Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.

The hypoacusia can be classified in two clinical forms: Syndromic (SHL) and Nonsyndromic (NSHL). In particular, the NSHL describes the 70-80% of hypoacusia cases and it is mainly due to genetic factors, which are causative of the deafness at the birth. The genetic hypoacusia presents different inheritance patterns: autosomal dominant (20%), autosomal recessive (80%), X-linked (1%), and mitochondrial (1%), respectively.

Use of N-Butyl-2-Cyanoacrylate (Glubran2(®)) in Fractures of Orbital-Maxillo-Zygomatic Complex.

Introduction: Fractures of the orbital-maxillo-zygomatic complex are among the most common fractures affecting the facial skeleton. Goal of surgical treatment is the realignment of fracture lines for a complete functional and aesthetic rehabilitation.

Materials And Methods: From January 2008 to January 2011 in the Department of Maxillofacial Surgery of Complesso Integrato Columbus of the Università Cattolica del Sacro Cuore in Rome, 25 patients, affected by comminute fractures of the anterior wall of the maxillary sinus associated with fractures of the orbital-maxillary complex were selected.

HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis.

In idiopathic pulmonary fibrosis (IPF), lung accumulation of excessive extracellular iron and macrophage haemosiderin may suggest disordered iron homeostasis leading to recurring microscopic injury and fibrosing damage. The current study population comprised 89 consistent IPF patients and 107 controls. 54 patients and 11 controls underwent bronchoalveolar lavage (BAL).

Long term follow-up in inferior alveolar nerve transposition: our experience.

Introduction: Inferior alveolar nerve transposition (IANT) is a surgical technique used in implantoprosthetic rehabilitation of the atrophic lower jaw which has not been well embraced because of the high risk of damage to the inferior alveolar nerve (IAN). There are cases in which this method is essential to obtain good morphologic and functional rebalancing of the jaw. In this paper, the authors present their experience with IANT, analyzing the various situations in which IANT is the only surgical preprosthetic option.

The Use of a Superiorly Based Melolabial Interpolated Flap for Reconstruction of Anterior Oronasal Fistulas: An Easy and Practical Solution.

Purpose: This study aimed to propose the use of a superiorly based melolabial interpolated flap for reconstruction of anteriorly located oronasal fistulas maxillary defects.

Materials And Methods: Using a prospective study design, we evaluated indications and outcomes of the reconstructive technique using the interpolated melolabial flap in 6 patients affected by anteriorly located maxillary defects with naso-sinonasal communication. The cases differed in demographic characteristics and etiology of the defect.

Iliac crest flap: donor site morbidity.

Introduction: Starting from the 1980s, with the advent of microsurgery, microvascular flaps are used for the reconstruction of wide and complex bone defects of the maxillomandibular district. Compared with conventional and implant-supported prostheses, the free flaps allow aesthetic-functional rehabilitations more adapt to answer to problems that these wide disablements involve. The anatomic characteristics of the crest flap make it one of the best available flap in the maxillomandibular bone reconstruction.

Scapula free flap for complex maxillofacial reconstruction.

Introduction: Composite tissue defects of the mandible and maxilla, after resection of head and neck malignancies, osteoradionecrosis, malformations, or traumas, cause functional and aesthetic problems. Nowadays, microvascular free flaps represent the main choice for the reconstruction of these defects. Among the various flaps proposed, the scapula flap has favorable characteristics that make it suitable for bone, soft tissue, or combined defects.

Microvascular reconstruction of the mandible in irradiated patients.

This work focuses on the use of revascularized free flaps for the reconstruction of the major defects of the mandible after the removal of advanced-stage tumors in irradiated patients. It uses three representative cases to study the problems of complex patients and the possible reconstructive options. The cases, all three young patients (two females and one male), had undergone a mandibulectomy and adjuvant radiotherapy for malignant neoplasms.