Medical treatment of patients with hypertrophic cardiomyopathy: An overview of current and emerging therapy.

Several treatments have demonstrated safety and effectiveness in the treatment of patients with hypertrophic cardiomyopathy; however, no drug has been shown to modify the natural history of the disease or to decrease maximal wall thickness. Improvement in our knowledge of the physiopathology of the disease has permitted the development of new therapeutical approaches, including sarcomere modulators and gene therapy. A sarcomere modulator - mavacamten - has been shown to improve exercise capacity, left ventricular outflow tract obstruction, New York Heart Association functional class and health status in a phase 3 trial.

Validation of PLASMIC score in a cohort of patients with suspected thrombotic microangiopathy in an academic medical centre.

Background: The PLASMIC score is a rapid and inexpensive clinical assessment tool for predicting severe ADAMTS13 deficiency (<10% activity) in patients with suspected thrombotic thrombocytopenic purpura (TTP). The score includes 7 parameters: absence of active cancer, patient not having received stem cell transplant or organ transplant, platelet count <30×10/L, hemolysis, mean corpuscular volume <90 fl, International Normalized Ratio <1.5, and serum creatinine <2 mg/dL.

Case Report: A Novel Homozygous Missense Variant of Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype.

Fibrillin proteins are extracellular matrix glycoproteins assembling into microfibrils. , , and encode the human fibrillins and mutations in and cause connective tissue disorders called fibrillinopathies, affecting cardiovascular, dermal, skeletal, and ocular tissues. Recently, mutations of the less characterized fibrillin family member, , have been associated in a single family with Bardet-Biedl syndrome (BBS).

Evolving Trends in the Management of Acute Appendicitis During COVID-19 Waves: The ACIE Appy II Study.

Background: In 2020, ACIE Appy study showed that COVID-19 pandemic heavily affected the management of patients with acute appendicitis (AA) worldwide, with an increased rate of non-operative management (NOM) strategies and a trend toward open surgery due to concern of virus transmission by laparoscopy and controversial recommendations on this issue. The aim of this study was to survey again the same group of surgeons to assess if any difference in management attitudes of AA had occurred in the later stages of the outbreak.

Methods: From August 15 to September 30, 2021, an online questionnaire was sent to all 709 participants of the ACIE Appy study.

Use of cangrelor in patients with acute coronary syndromes undergoing percutaneous coronary intervention: Study design and interim analysis of the ARCANGELO study.

Background: The itAlian pRospective Study on CANGrELOr (ARCANGELO) was aimed to assess the safety of using cangrelor during percutaneous coronary intervention (PCI) in patients with acute coronary syndromes (ACS) in the daily practice.

Hypothesis: The safety of cangrelor after the transition to oral P2Y12 inhibitors was evaluated as the incidence of bleeding outcomes in the 30 days following PCI according to postauthorization safety study guidelines.

Methods: Adults with ACS who were treated with cangrelor in one of the 28 centers involved in the study.

Are insulin resistance and non-alcoholic fatty liver disease associated with Peyronie's disease? A pilot study.

Risk factors for Peyronie's disease (PD) are serum lipid abnormalities, hypertension and type 2 diabetes mellitus (T2DM). Oxidative stress and inflammation are key-players in the pathogenesis of arterial diseases, leading to insulin resistance (IR), which is a major determinant of non-alcoholic fatty liver disease (NAFLD). We studied the potential relationship between PD, IR, and NAFLD.

Lipoprotein(a) and family history for cardiovascular disease in paediatric patients: A new frontier in cardiovascular risk stratification. Data from the LIPIGEN paediatric group.

Background And Aims: Little is known about the role of Lp(a) in the assessment of cardiovascular risk in the paediatric population. Trying to clarify the clinical relevance of Lp(a) in risk stratification, the aim of the study is to evaluate the association between Lp(a) plasma levels in children with familial hypercholesterolaemia (FH) and positive family history for premature cardiovascular disease (pCVD) in first- and second-degree relatives.

Methods: 653 Caucasian children and adolescents (334 females and 319 males), aged 2-17 years, with diagnosis of FH from a paediatric cohort included in the LIPIGEN Network, were selected.

Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.

Purpose: Emerging evidence suggest that infection-dependent hyperactivation of complement system (CS) may worsen COVID-19 outcome. We investigated the role of predicted high impact rare variants - referred as qualifying variants (QVs) - of CS genes in predisposing asymptomatic COVID-19 in elderly individuals, known to be more susceptible to severe disease.

Methods: Exploiting exome sequencing data and 56 CS genes, we performed a gene-based collapsing test between 164 asymptomatic subjects (aged ≥60 years) and 56,885 European individuals from the Genome Aggregation Database.

Machine Learning and Regression Analysis to Model the Length of Hospital Stay in Patients with Femur Fracture.

Fractures of the femur are a frequent problem in elderly people, and it has been demonstrated that treating them with a diagnostic-therapeutic-assistance path within 48 h of admission to the hospital reduces complications and shortens the length of the hospital stay (LOS). In this paper, the preoperative data of 1082 patients were used to further extend the previous research and to generate several models that are capable of predicting the overall LOS: First, the LOS, measured in days, was predicted through a regression analysis; then, it was grouped by weeks and was predicted with a classification analysis. The KNIME analytics platform was applied to divide the dataset for a hold-out cross-validation, perform a multiple linear regression and implement machine learning algorithms.

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.

Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Here, we described a full-term female infant affected by Kleefstra syndrome-2 presenting with neurodevelopmental disorder, a history of hypotonia and minor face anomalies. A systematic literature review was also performed.

It is the lymph node ratio that determines survival and recurrence patterns in resected distal cholangiocarcinoma. A multicenter international study.

Background: Distal cholangiocarcinoma (dCC) is still associated with a poor overall survival (OS). This study aims to investigate the impact of novel prognostic scores in comparison with more traditional ones.

Methods: Multicentric retrospective analysis of patients who underwent a pancreatoduodenectomy (PD) for dCC.

Liver resection in elderly patients with extensive CRLM: Are we offering an adequate treatment? A propensity score matched analysis.

Background: Data on the management of elderly patients with extensive colorectal liver metastases (CRLM) are scarce and conflicting. This study assesses differences in management and long-term oncological outcomes between older and younger patients with CRLM and a high Tumour Burden Score (TBS).

Methods: International multicentre retrospective study on patients with CRLM and a category 3 TBS, submitted to liver resection.

Metanalysis on the effectiveness of low back pain treatment with oxygen-ozone mixture: Comparison between image-guided and non-image-guided injection techniques.

Low back pain (LBP) is a common disorder affecting an increasing number of people worldwide, whose diagnosis is focused on the identification of triggering causes. First line therapy usually starts from conservative approaches, whereas second line treatments include a spectrum of minimally invasive techniques, before resorting to more invasive surgical approaches. Among minimally invasive techniques, percutaneous oxygen-ozone injections represent one of the most common and cost-effective procedures.

Inferior gluteal artery perforator (IGAP) flap versus profunda artery perforator (PAP) flap as an alternative option for free autologous breast reconstruction.

Background: When patients are unsuitable for deep inferior epigastric perforator (DIEP) flap breast reconstruction, the inferior gluteal artery perforator (IGAP) flap has been used as an alternative option. However, the profunda artery perforator (PAP) flap is also gaining popularity as an alternative to the DIEP flap for several reasons. This retrospective cohort study compares baseline characteristics, peri- and post-operative outcomes following IGAP flap and PAP flap breast reconstructions after mastectomy for cancer.

Cardiovascular Involvement in Transthyretin Cardiac Amyloidosis.

Transthyretin cardiac amyloidosis (ATTR-CA) is a systemic disorder resulting from the extracellular deposition of amyloid fibrils of misfolded transthyretin protein in the heart. ATTR-CA is a life-threatening disease, which can be caused by progressive deposition of wild type transthyretin (wtATTR) or by aggregation of an inherited mutated variant of transthyretin (mATTR). mATTR Is a rare condition transmitted in an autosomal dominant manner with incomplete penetrance, causing heterogenous phenotypes which can range from predominant neuropathic involvement, predominant cardiomyopathy, or mixed.

Epidemiology, Pathogenesis, and Clinical Course of Takotsubo Syndrome.

Takotsubo syndrome is an acute reversible heart failure syndrome, most frequently seen in postmenopausal women and precipitated generally by significant emotional stress or physical illness. A sudden sympathetic activation seems to play a key role in the pathophysiology, but growing evidence is emerging about the role of inflammation in the subacute and chronic phases. An incidence of life-threatening complications occurring in the acute phase and at long-term follow-up has been demonstrated, comparable with the acute coronary syndrome.

Prevalence and clinical implications of eligibility criteria for prolonged dual antithrombotic therapy in patients with PEGASUS and COMPASS phenotypes: Insights from the START-ANTIPLATELET registry.

Aim: To analyze the prevalence and clinical implications of the eligibility criteria for prolonged dual antithrombotic therapy with ticagrelor 60 mg twice daily and/or rivaroxaban 2.5 mg twice daily in a contemporary real-world ACS registry.

Methods: Patients from the START-ANTIPLATELET registry (NCT02219984) were stratified according to the eligibility criteria of the PEGASUS and COMPASS studies to investigate the proportion of patients eligible for prolonged dual antithrombotic therapy at discharge and after 1-year of DAPT.

Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality.

BackgroundThere is considerable variability in COVID-19 outcomes among younger adults, and some of this variation may be due to genetic predisposition.MethodsWe combined individual level data from 13,888 COVID-19 patients (n = 7185 hospitalized) from 17 cohorts in 9 countries to assess the association of the major common COVID-19 genetic risk factor (chromosome 3 locus tagged by rs10490770) with mortality, COVID-19-related complications, and laboratory values. We next performed metaanalyses using FinnGen and the Columbia University COVID-19 Biobank.

Predictive Role of Population Density and Use of Public Transport for Major Outcomes of SARS-CoV-2 Infection in the Italian Population: An Ecological Study.

Background: This study aimed at assessing how population density (PD), aging index (AI), use of public transport (URPT), and PM10 concentration (PI) modulated the trajectory of the main COVID-19 pandemic outcomes in Italy, also in the recrudescence phase of the epidemic.

Study Design: Ecological study.

Methods: For each region, we recovered data about cases, deaths, and case fatality rate (CFR) recorded since both the beginning of the epidemic and September 1, 2020.

Testicular shear wave elastography in oligo-astheno-teratozoospermic individuals: a prospective case-control study.

Purpose: The primary objective of this study was to evaluate the testicular stiffness by ultrasound shear wave elastography (SWE) both in men with oligo-astheno-teratozospermia (OAT) and in control group. The secondary objective was to identify a possible correlation between semen quality with testicular stiffness.

Methods: This was a prospective case-control study.

An emerging role for BAG3 in gynaecological malignancies.

BAG3, a member of the BAG family of co-chaperones, is a multidomain protein with a role in several cellular processes, including the control of apoptosis, autophagy and cytoskeletal dynamics. The expression of bag3 is negligible in most cells but can be induced by stress stimuli or malignant transformation. In some tumours, BAG3 has been reported to promote cell survival and resistance to therapy.