Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance.

Chromoanagenesis events consist of complex chromosome rearrangements with multiple breakpoints in one or few chromosomes. Mechanisms of chromoanagenesis are split into three major groups: chromothripsis, chromoanasynthesis and chromoplexy. This study aims to delineate a chromoanagenesis event at the level of chromosome 22 in an individual showing obesity and borderline cognitive performance as major disturbances.

The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases.

In the last decade, an incredible improvement has been made in elucidating the genetic bases of cardiomyopathies. Here we report the impact of either the European Society of Cardiology (ESC) guidelines or the use of whole exome sequencing (WES) in terms of a number of variants of uncertain significance (VUS) and missed diagnoses in a series of 260 patients affected by inherited cardiac disorders. Samples were analyzed using a targeted gene panel of 128 cardiac-related genes and/or WES in a subset of patients, with a three-tier approach.

Dihydrotanshinone I exhibits antitumor effects via β-catenin downregulation in papillary thyroid cancer cell lines.

Thyroid cancer is the most common endocrine carcinoma and, among its different subtypes, the papillary subtype (PTC) is the most frequent. Generally, PTCs are well differentiated, but a minor percentage of PTCs are characterized by a worse prognosis and more aggressive behavior. Phytochemicals, naturally found in plant products, represent a heterogeneous group of bioactive compounds that can interfere with cell proliferation and the regulation of the cell cycle, taking part in multiple signaling pathways that are often disrupted in tumor initiation, proliferation, and progression.

Multi-Modal versus Uni-Modal Treatment for the Recovery of Lower Limb Motor Function in Patients after Stroke: A Systematic Review with Meta-Analysis.

The aim of this study is to evaluate whether the multimodal treatment based on both resistance and endurance training for the recovery of lower limb function in post-stroke patients is more effective than unimodal treatment. Six electronic databases were searched. The included articles were firstly analysed for methodological quality and then quantitatively analysed for the following outcomes: endurance, knee-extensor muscle strength, gait speed, and aerobic capacity.

GSK2801 Reverses Paclitaxel Resistance in Anaplastic Thyroid Cancer Cell Lines through MYCN Downregulation.

Anaplastic thyroid cancer (ATC) is a very rare, but extremely aggressive form of thyroid malignancy, responsible for the highest mortality rate registered for thyroid cancer. Treatment with taxanes (such as paclitaxel) is an important approach in counteracting ATC or slowing its progression in tumors without known genetic aberrations or those which are unresponsive to other treatments. Unfortunately, resistance often develops and, for this reason, new therapies that overcome taxane resistance are needed.

Clinical Features to Predict the Use of a sEMG Wearable Device (REMO) for Hand Motor Training of Stroke Patients: A Cross-Sectional Cohort Study.

After stroke, upper limb motor impairment is one of the most common consequences that compromises the level of the autonomy of patients. In a neurorehabilitation setting, the implementation of wearable sensors provides new possibilities for enhancing hand motor recovery. In our study, we tested an innovative wearable (REMO) that detected the residual surface-electromyography of forearm muscles to control a rehabilitative PC interface.

Somatic genomic imbalances in 'tumour-free' surgical margins of oral cancer.

Up to 30% of oral squamous cell carcinoma (OSCC) patients develop local recurrence and distant metastasis. The molecular status of histologically cancer-free tumour margins could be a critical factor in predicting tumour behaviour. The aim of this study was to detect somatic genomic imbalances in OSCC with emphasis on the surgical margins.

Novel IGFALS mutations with predicted pathogenetic effects by the analysis of AlphaFold structure.

Purpose: According to the American College of Medical Genetics (ACMG) classification, variants of uncertain significance (VUS) are gene variations whose impact on the disease risk is not yet known. VUS, therefore, represent an unmet need for genetic counselling. Aim of the study is the use the AlphaFold artificial intelligence algorithm to predict the impact of novel mutations of the IGFALS gene, detected in a subject with short stature and initially classified as VUS according to the ACMG classification.

Role of m6A RNA Methylation in Thyroid Cancer Cell Lines.

N6-methyladenosine (m6A) is the most abundant internal modification of RNA in eukaryotic cells, and, in recent years, it has gained increasing attention. A good amount of data support the involvement of m6A modification in tumorigenesis, tumor progression, and metastatic dissemination. However, the role of this RNA modification in thyroid cancer still remains poorly investigated.

Virtual Feedback for Arm Motor Function Rehabilitation after Stroke: A Randomized Controlled Trial.

A single-blind randomized controlled trial was conducted to compare whether the continuous visualization of a virtual teacher, during virtual reality rehabilitation, is more effective than the same treatment provided without a virtual teacher visualization, for the recovery of arm motor function after stroke. Teacher and no-teacher groups received the same amount of virtual reality therapy (i.e.

The use of respiratory muscle training in patients with pulmonary dysfunction, internal diseases or central nervous system disorders: a systematic review with meta-analysis.

Objective: The aim of this systematic review with meta-analysis was to evaluate the effectiveness of RMT in internal and central nervous system disorders, on pulmonary function, exercise capacity and quality of life.

Methods: The inclusion criteria were (1) publications designed as Randomized Controlled Trial (RCT), with (2) participants being adults with pulmonary dysfunction caused by an internal disease or central nervous system disorder, (3) an intervention defined as RMT (either IMT or EMT) and (4) with the assessment of exercise capacity, respiratory function and quality of life. For the methodological quality assessment of risk of bias, likewise statistical analysis and meta-analysis the RevMan version 5.

Enantioselective Cytotoxicity of Chiral Diphosphine Ruthenium(II) Complexes Against Cancer Cells.

The chiral cationic complex [Ru(η -OAc)(CO)((R,R)-Skewphos)(phen)]OAc (2 ), isolated from reaction of [Ru(η -OAc)(η -OAc)(R,R)-Skewphos)(CO)] (1 ) with phen, reacts with NaOPiv and KSAc affording [RuX(CO)((R,R)-Skewphos)(phen)]Y (X=Y=OPiv 3 ; X=SAc, Y=OAc 4 ). The corresponding enantiomers 2 -4 have been obtained from 1 containing (S,S)-Skewphos. Reaction of 2 and 2 with (S)-cysteine and NaPF at pH=9 gives the diastereoisomers [Ru((S)-Cys)(CO)(PP)(phen)]PF (PP=(R,R)-Skewphos 2 -Cys; (S,S)-Skewphos 2 -Cys).

Effects of Dihydrotanshinone I on Proliferation and Invasiveness of Paclitaxel-Resistant Anaplastic Thyroid Cancer Cells.

ATC is a very rare, but extremely aggressive form of thyroid malignancy, responsible for the highest mortality rate registered for thyroid cancer. In patients without known genetic aberrations, the current treatment is still represented by palliative surgery and systemic mono- or combined chemotherapy, which is often not fully effective for the appearance of drug resistance. Comprehension of the mechanisms involved in the development of the resistance is therefore an urgent issue to suggest novel therapeutic approaches for this very aggressive malignancy.

Dihydrotanshinone exerts antitumor effects and improves the effects of cisplatin in anaplastic thyroid cancer cells.

Anaplastic thyroid cancer (ATC) is the most aggressive type of thyroid cancer and is responsible for 20‑50% of thyroid cancer‑associated deaths. The absence of response to conventional treatments makes the search for novel therapeutics a clinical challenge. In the present study, the effects of 15,16‑dihydrotanshinone I (DHT), a tanshinone extracted from Bunge (Danshen), which has previously been shown to possess anticancer activity, were examined in two human ATC cell lines.

Telerehabilitation for people with aphasia: A systematic review and meta-analysis.

Objectives: To evaluate effectiveness or non-inferiority of telerehabilitation for people with aphasia when compared to conventional face-to-face speech and language therapy.

Materials And Methods: Five electronic databases (PUBMED, EMBASE, WEB OF SCIENCE, SCOPUS and the Cochrane Library) were searched. We extrapolated data from the included studies and evaluated the methodological quality using the Revised Cochrane risk-of-bias tool for Randomized Trials (RoB 2) and the Risk Of Bias In Non-randomized Studies of Interventions (ROBINS-I).

Robot-assisted rehabilitation of hand function after stroke: Development of prediction models for reference to therapy.

Background: Recovery of hand function after stroke represents the hardest target for clinicians. Robot-assisted therapy has been proved to be effective for hand recovery. Nevertheless, studies aimed to refer patients to the best therapy are missing.

Spontaneous coronary artery dissection: Role of prognostic markers and relationship with genetic analysis.

Unlabelled: Spontaneous coronary artery dissection (SCAD) is increasingly recognized as an important cause of myocardial infarction (MI). Currently there is little knowledge about prognostic factors for unfavorable outcome at long term follow-up; furthermore, there is also little knowledge about the genetics of these patients.

Aims: This observational and retrospective study describes long-term cardiovascular outcomes of a population affected by SCAD and assesses predictors of recurrent de novo SCAD and major adverse cardiovascular events (MACE).

A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver-Russell syndrome phenotype.

The Silver-Russell syndrome (SRS) is a rare disorder characterized by heterogeneous clinical features, including growth retardation, typical facial dysmorphisms, and body asymmetry. Genetic alterations causative of SRS mostly affect imprinted genes located on chromosomes 7 or 11. Hypomethylation of the Imprinting Center 1 (IC1) of the chromosome 11p15.

Critical Involvement of Calcium-Dependent Cytosolic Phospholipase A2α in Aortic Valve Interstitial Cell Calcification.

The involvement of calcium-dependent cytosolic phospholipase A2α (cPLA2α) in aortic valve calcification is not exhaustively elucidated. Here, cPLA2α expression in aortic valve interstitial cell (AVIC) pro-calcific cultures simulating either metastatic or dystrophic calcification was estimated by qPCR, Western blotting, and counting of cPLA2α-immunoreactive cells, with parallel ultrastructural examination of AVIC calcific degeneration. These evaluations also involved pro-calcific AVIC cultures treated with cPLA2α inhibitor dexamethasone.

Cationic carboxylate and thioacetate ruthenium(ii) complexes: synthesis and cytotoxic activity against anaplastic thyroid cancer cells.

The cationic acetate ruthenium complex [Ru(η1-OAc)(CO)(dppb)(phen)]OAc (1) is easily prepared in 83% yield from [Ru(η1-OAc)(η2-OAc)(CO)(dppb)] (dppb = 1,4-bis(diphenylphosphino)butane) and 1,10-phenanthroline (phen) in MeOH. The derivative 1 undergoes easy substitution of the coordinated acetate by reaction with NaOPiv, KSAc, and KSCN in MeOH, affording the corresponding complexes [RuX(CO)(dppb)(phen)]X (X = OPiv, 2; SAc, 3; and NCS, 4), whereas its reaction with NaCl and NH4PF6 affords [RuCl(CO)(dppb)(phen)]PF6 (5). Carboxylate complexes 1 and 2 show high solubility in water, enabling easy exchange of the coordinated carboxylate by water and other ligands (CH3CN, glutathione).

Marked epithelial to mesenchymal transition in surgical margins of oral cancer-an study.

Epithelial to mesenchymal transition (EMT) is a feature of several types of human cancer, including oral squamous cell carcinoma (OSCC). In the present study, tumor and margin cell cultures obtained from patients with OSCC were used to determine the expression patterns of certain EMT-associated markers, including vimentin, α-smooth muscle actin, SLUG and SNAIL. In addition, other EMT-associated features, including clonal, proliferative and migratory potential were compared between the two cell types.