Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Unlabelled: Thalassemias and hemoglobinopathies are among the most common genetic diseases worldwide and have a significant impact on public health. The decreasing cost of next-generation sequencing (NGS) has quickly enabled the development of new assays that allow for the simultaneous analysis of small nucleotide variants (SNVs) and copy number variants (CNVs) as deletions/duplications of α- and β-globin genes.

Background/objectives: This study highlighted the efficacy and rapid identification of all types of mutations in the α- and β-globin genes, including silent variants, using the Devyser Thalassemia NGS kit.

Assessment of plasma resolvin levels in women with breast cancer and their associations with disease presentation and immunohistochemical characteristics.

Background: Resolvins, which are divided into series D (RvD) and E (RvE), originate from omega-3 fatty acids, DHA and EPA and were recently found to be involved in the modulation of inflammation in some tumors, including breast cancer (BC). We aimed to assess the resolvin profiles (RvD1, RvD2, RvD3 and RvE1) in the plasma of BC patients compared with those of controls and to determine differences in their concentrations according to BC presentation and immunohistochemical characteristics.

Methods: We considered BC patients (sporadic, familiar and BRCA1/2-mutated forms) naïve to any anticancer treatment and controls affected by nonmalignant breast disease.

Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region.

Smith-Magenis syndrome (SMS) is a complex neurodevelopmental disorder with a birth incidence of 1:25,000. SMS is caused by haploinsufficiency of the retinoic acid-induced retinoic acid1 (RAI1) gene, determined by an interstitial deletion of ∼ 3.7 Mb (17p11.

Breast cancer patients' postoperative outcomes in nipple-sparing mastectomy and reconstruction with subpectoral implant placement: a single center experience.

Background: The continuous increase in the rate of nipple sparing mastectomy (NSM), the development of several reconstructive techniques and the following introduction of acellular derma matrix (ADM) has revolutionized implant-based breast reconstruction. This study aimed to investigate postoperative complications, health-related quality of life (HRQoL) and patients' satisfaction in patients undergoing NSM and breast reconstruction with or without ADM.

Methods: Enrolled patients were divided into three groups: immediate breast reconstruction (IBR) with definitive implant and ADM (Group A), IBR only with definitive prosthesis (Group B), and two-stage breast reconstruction (Group C).

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Purpose: Pathogenic LZTR1 variants cause schwannomatosis and dominant/recessive Noonan syndrome (NS). We aim to establish an association between heterozygous loss-of-function LZTR1 alleles and isolated multiple café-au-lait macules (CaLMs).

Methods: A total of 849 unrelated participants with multiple CaLMs, lacking pathogenic/likely pathogenic NF1 and SPRED1 variants, underwent RASopathy gene panel sequencing.

A Nutraceutical Combination of Bromelain and Boswellia Serrata Casperome® in Siben®: Effects on the Postoperative Course of Inguinal Hernioplasty with Mesh at One Year Follow up. A Randomized Multicentric Study.

Aim: We investigated the potential benefits of administering a nutraceutical combination of Bromelain (200 mg) and Boswellia serrata Casperome® (200 mg) on post-operative outcomes of hernioplasty with mesh.

Methods: One hundred eighty patients (27 females, 153 males) were enrolled to undergo open tension-free hernioplasty with the use of Progrip®. Patients were randomized to receive either one tablet of Siben® (study group) or placebo (control group) on an empty stomach, every twelve hours for eleven postoperative days.

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, encoding a transcriptional regulator negatively controlling RAS-MAPK signaling, have been associated with syndromic craniosynostosis involving various cranial sutures and Chitayat syndrome, an ultrarare condition with respiratory distress, skeletal anomalies, and facial dysmorphism. Recently, a single patient with craniosynostosis and a phenotype resembling Noonan syndrome (NS), the most common disorder among the RASopathies, was reported to carry a de novo loss-of-function variant in ERF. Here, we clinically profile 26 individuals from 15 unrelated families carrying different germline heterozygous variants in ERF and showing a phenotype reminiscent of NS.

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.

Hypertrophic cardiomyopathy (HCM) is the major contributor to morbidity and mortality in Noonan syndrome (NS). Gain-of-function variants in RAF1 are associated with high prevalence of HCM. Among these, NM_002880.

SPREAD: Spatiotemporal Pathogen Relationships and Epidemiological Analysis Dashboard.

In the scope of public health, the rapid identification and control of infectious disease outbreaks are a paramount concern. Traditional surveillance methods often face challenges in effectively combining genetic, geographical, and temporal data, which is crucial for a comprehensive understanding of disease transmission dynamics. Addressing this critical need, the Spatiotemporal Phylogenomic Research and Epidemiological Analysis Dashboard (SPREAD) emerges as an innovative standalone web-based application.

The unexpected social cost of inguinal hernioplasty procedures derived from the COVID-19 pandemic: Surgical trend analysis based on an Italian hospital series.

Background: The majority of inguinal hernias are usually paucisymptomatic, so are restored electively. The main purpose of this study is to assess the trends in hernia repair surgery before and during the pandemic period, analyzing an Italian hospital series of 390 patients, in an attempt to quantify the negative impact regarding social costs derived from the Covid-19 outbreak. Moreover, we want to focus on the concept of apparently minor pathology as hernioplasty which could represent a life-threatening condition for patients.

Abdominoplasty after massive weight loss. Safety preservation fascia technique and clinical outcomes in a large single series-comparative study.

Introduction: Weight loss after bariatric surgery causes very important modifications to the patient's silhouette. Abdominal fat and skin excess reduction are associated with several complications. The most frequent are seroma and hematoma whereas major complications, such as pulmonary embolism, are less frequent.

Can the medullary diameter/cortical thickness ratio be a predictor of diaphyseal fracture in elderly patients treated with cephalo-medullary nail for proximal femur fractures? A retrospective cohort study on 488 patients.

Background And Aim Of The Work: Diaphyseal femoral fracture occurring distal to the CM nail tip is an infrequent complication that presents some similarities with periprosthetic hip fractures. The purpose of this study is to evaluate the correlation between medullary diameter (MD) and cortical width (CW) ratio, a known risk factor for periprosthetic fracture, with the occurrence of diaphyseal fracture distal to the nail tip.

Research Design And Methods: Study population included patients > 65 years old treated with short CM nail for proximal femur fractures (PFF) at the Cattinara Hospital-ASUGI of Trieste (Italy) Orthopedics and Traumatology Unit between July 2014 and May 2018.

Evaluating the Quality of Online Patient Information for Prepectoral Breast Reconstruction Using Polyurethane-Coated Breast Implants.

Background: An increasing number of patients are using online information regarding medical issues; however, the Internet is not subject to content ratings or filters. Unreliable information found on the web can heavily influence patients to the extent that it can lead to wrong decisions in the choice of treatment. In our daily experience we meet more informed patients and given the increasing use of polyurethane-coated implants in breast reconstruction in Europe, we wondered about the level of information available online.

Novel Genetic Microvascular Dysplasia Causing Hypoperfusion of Cardiac, Renal, and Cerebral Circulation.

Background: Microvascular disorders represent an uncommon site of tissue hypo-perfusion and damage. Various genetic and acquired causes can be involved. A 65-year-old man was admitted because of refractory angina, which he had had since the age of 30 years, micro-hematuria, and recurrent transitory ischemic attacks from the age of 64.

Portable Negative Pressure Wound Dressing in Oncoplastic Conservative Surgery for Breast Cancer: A Valid Ally.

: The use of oncoplastic techniques has spread widely in the last decade, with an expansion of the indications and demonstration of excellent oncological safety profiles. A potential downside may be the increased complication rates, which could influence the timing of adjuvant therapy. To date, there is increasing evidence that negative pressure therapy on closed wounds can reduce complication rates after surgery.

The HELLP syndrome: clinical issues and surgical management. A Case Experience.

Aim: This study aims to challenge the current know-how in patients with spontaneous rupture of a liver hematoma, to differentiate amongst patients requiring such specific surgical therapy and avoiding mistakes during surgical operations, in order to terminate pregnancy with beneficial effects on the mother and fetus.

Materials And Methods: In a emergency scenario we admitted a 37-year-old woman at 35+4 weeks of gestation for emergency cesarean section after the onset of right hypochondrium pain. A diagnosis of hemoperitoneum and severe preeclampsia with liver and splenic bleeding was done and managed with packing of hepatic and splenic hematomas and according to her haemo-dynamic clinical conditions, done in different time.

A novel ANO3 variant in two siblings with different phenotypes.

Introduction: Dystonia type 24 is due to the mutation of the ANO3 gene. It generally consists of craniocervical dystonia associated with tremor; however, other neurological manifestations may also occur. Scientific literature has been expanding on its phenotype over the past few years.

FOXI3 pathogenic variants cause one form of craniofacial microsomia.

Craniofacial microsomia (CFM; also known as Goldenhar syndrome), is a craniofacial developmental disorder of variable expressivity and severity with a recognizable set of abnormalities. These birth defects are associated with structures derived from the first and second pharyngeal arches, can occur unilaterally and include ear dysplasia, microtia, preauricular tags and pits, facial asymmetry and other malformations. The inheritance pattern is controversial, and the molecular etiology of this syndrome is largely unknown.

Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome.

Noonan syndrome (NS) belongs to RASopathies, a family of disorders caused by unregulated signaling through the RAS-MAPK pathway. Herein, we report on an individual with molecularly confirmed diagnosis of NS showing asymptomatic enlarged spinal nerve roots, which are distinctive features of neurofibromatosis type 1. To date, a total of 16 patients with neurogenic tumors resembling neurofibromas/schwannomas and a molecularly confirmed diagnosis of a non-NF1 RASopathy have been reported, adding this further feature shared among RASopathies.

Novel Insights on CAI-CORM Hybrids: Evaluation of the CO Releasing Properties and Pain-Relieving Activity of Differently Substituted Coumarins for the Treatment of Rheumatoid Arthritis.

Pain control is among the most important healthcare services in patients affected by rheumatoid arthritis (RA), but the current therapeutic options (i.e., disease-modifying anti-rheumatic drugs) are limited by the risk of the side effects.

Recurrent Extreme Bilateral Gigantomastia Caused by Pseudoangiomatous Stromal Hyperplasia (PASH) Syndrome: A Case Report.

Pseudoangiomatous stromal hyperplasia (PASH) of the breast is a rare and benign medical condition in which the breast tissue is affected by an abnormal myofibroblastic proliferation, which mimics a low-grade sarcoma angiomatous proliferation. PASH usually presents itself either as a palpable mass or as an incidental diagnosis during breast specimens' histological examination. A few cases have been reported in the literature of a diffuse form of breast PASH syndrome in which the clinical presentation is a bilateral form of gigantomastia without palpable masses.