Early detection of nerve involvement in presymptomatic TTR mutation carriers: exploring potential markers of disease onset.

Background: Hereditary transthyretin (ATTRv) amyloidosis is a heterogeneous, progressive, multisystemic disease with a life-threatening course if left untreated. Given the current availability of effective therapies, close follow-up of presymptomatic TTR mutation carriers is essential to recognize disease onset at the earliest sign. In addition to routine techniques, in recent years several novel tools have been proposed, although a consensus on their use has not been reached yet.

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.

Background And Objectives: Pathogenic variants in the valosin-containing protein () gene cause a phenotypically heterogeneous disorder that includes myopathy, motor neuron disease, Paget disease of the bone, frontotemporal dementia, and parkinsonism termed multisystem proteinopathy. This hallmark pleiotropy makes the classification of novel variants challenging. This retrospective study describes and assesses the effect of 19 novel or nonpreviously clinically characterized variants identified in 28 patients (26 unrelated families) in the retrospective VCP International Multicenter Study.

4D-HyCoSy performed in a reproductive center: retrospective analysis of pain perception, complications and spontaneous pregnancy rate after the technique.

Objective: Nowadays 4D hysterosalpingocontrast sonography (4D-HyCoSy) represents a primary technique in the evaluation of tubal impairment, with a low rate of pain referred and complications related, but its role in increasing the chance of spontaneous clinical pregnancy in women in childbearing age is still debated.

Patients And Methods: Retrospective study of 359 women performed 4D-HyCoSy at Reproductive Physiopathology and Andrology Unit, Sandro Pertini Hospital, Rome, during the period 2018-2020.

Inclusion Criteria: women attending our IVF (in vitro fertilization) center with at least 1 year of infertility.

Big Data for Biomedical Education with a Focus on the COVID-19 Era: An Integrative Review of the Literature.

Medical education refers to education and training delivered to medical students in order to become a practitioner. In recent decades, medicine has been radically transformed by scientific and computational/digital advances-including the introduction of new information and communication technologies, the discovery of DNA, and the birth of genomics and post-genomics super-specialties (transcriptomics, proteomics, interactomics, and metabolomics/metabonomics, among others)-which contribute to the generation of an unprecedented amount of data, so-called 'big data'. While these are well-studied in fields such as medical research and methodology, translational medicine, and clinical practice, they remain overlooked and understudied in the field of medical education.

Patisiran in hATTR Amyloidosis: Six-Month Latency Period before Efficacy.

Hereditary amyloidosis associated with mutations in the transthyretin gene (hATTR) is a progressive devastating disease, with a fatal outcome occurring within 10years after onset. In recent years, TTR gene silencing therapy appeared as a promising therapeutic strategy, showing evidence that disease progression can be slowed and perhaps reversed. We report here 18 subjects affected by hATTR amyloidosis treated with patisiran, a small interfering RNA acting as TTR silencer, and evaluated with a PND score, the NIS and NIS-LL scale, and a Norfolk QOL-DN questionnaire at baseline and then every 6 months.

The 2020 Italian Society of Arterial Hypertension (SIIA) practical guidelines for the management of primary aldosteronism.

Background And Aim: Considering the amount of novel knowledge generated in the last five years, a team of experienced hypertensionlogists was assembled to furnish updated clinical practice guidelines for the management of primary aldosteronism.

Methods: To identify the most relevant studies, the authors utilized a systematic literature review in international databases by applying the PICO strategy, and then they were required to make use of only those meeting predefined quality criteria. For studies of diagnostic tests, only those that fulfilled the Standards for Reporting of Diagnostic Accuracy recommendations were considered.

Inter-fractional monitoring of [Formula: see text]C ions treatments: results from a clinical trial at the CNAO facility.

The high dose conformity and healthy tissue sparing achievable in Particle Therapy when using C ions calls for safety factors in treatment planning, to prevent the tumor under-dosage related to the possible occurrence of inter-fractional morphological changes during a treatment. This limitation could be overcome by a range monitor, still missing in clinical routine, capable of providing on-line feedback. The Dose Profiler (DP) is a detector developed within the INnovative Solution for In-beam Dosimetry in hadronthErapy (INSIDE) collaboration for the monitoring of carbon ion treatments at the CNAO facility (Centro Nazionale di Adroterapia Oncologica) exploiting the detection of charged secondary fragments that escape from the patient.

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers.

Pathological evidence of amyloid on nerve biopsy has been the gold standard for diagnosis in hereditary transthyretin amyloidosis polyneuropathy (hATTR-PN) for a long time. In this article, we reviewed the pathological findings of a large series of sural nerve biopsies from a cohort of hATTR-PN patients, collected by different Italian referral centers. We reviewed clinical and pathological data from hATTR-PN patients, diagnosed and followed in five Italian referral centers for peripheral neuropathies.

Pathological Findings in Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Single-Center Experience.

Objective: Segmental demyelination is the pathological hallmark of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), but other elementary lesions are frequently observed, configuring a series of different pathological pictures. In this article, we review the pathological findings of a large series of sural nerve biopsies from our cohort of CIDP patients.

Patients And Methods: Patients with CIDP who underwent nerve biopsy were retrospectively selected from those referred to the Institute of Neurology of the "Università Cattolica del Sacro Cuore" in Rome, Italy, from 1982 to February 2020.

A sleep apnoea questionnaire predicts organ damage in hypertensive patients.

Background: Arterial hypertension is associated with obstructive sleep apnoea, poor quality and duration of sleep, which might contribute to hypertension-mediated organ damage.

Methods: We investigated the presence of insomnia, restless legs syndrome, and obstructive sleep apnoea using validated questionnaires (Insomnia Severity Index, Restless Legs Syndrome Rating Scale, and STOP-Bang), and their relationship with hypertension-mediated organ damage, in hypertensive patients.

Results: In 159 consecutive consenting hypertensive patients [age 47(11) years, median and (interquartile range), body mass index 25.

Sudoscan in the evaluation and follow-up of patients and carriers with TTR mutations: experience from an Italian Centre.

Objective: To evaluate the utility of Sudoscan as possible marker of disease progression and disease onset in a cohort of hereditary ATTR amyloidosis (hATTR amyloidosis) polyneuropathy patients and carriers.

Patients And Methods: We regularly performed different clinical scales, nerve conductions studies (NCS), and Sudoscan on a cohort of hATTR amyloidosis patients and carriers from a single centre of central Italy, a non-endemic area, in the last 2 years.

Results: About 18 hATTR amyloidosis patients and 8 asymptomatic carriers were enrolled.

Monte Carlo simulation tool for online treatment monitoring in hadrontherapy with in-beam PET: A patient study.

Hadrontherapy is a method for treating cancer with very targeted dose distributions and enhanced radiobiological effects. To fully exploit these advantages, in vivo range monitoring systems are required. These devices measure, preferably during the treatment, the secondary radiation generated by the beam-tissue interactions.

Electrical stimulation for the treatment of obstructive sleep apnoea: a review of the evidence.

Obstructive sleep apnoea is an increasingly prevalent clinical condition with significant impact on individuals and public health. Continuous positive airway pressure therapy is the standard treatment, but adherence is limited and alternative treatments are needed. In this context, non-invasive and invasive methods for the electrical stimulation of upper airway dilator muscles have been demonstrated to be effective in selected patients.

Androstenedione and 17-α-Hydroxyprogesterone Are Better Indicators of Adrenal Vein Sampling Selectivity Than Cortisol.

For identification of potentially surgically curable primary aldosteronism, guidelines recommend use of adrenal vein sampling (AVS) that requires selective catheterization of both adrenal veins as verified by using the cortisol-derived selectivity index. Unfortunately, bilaterally selective studies are not obtained under unstimulated conditions in a proportion of the cases ranging between 15% and 50% depending on the cutoff used. We therefore investigated whether 17-α-hydroxyprogesterone and androstenedione, which showed a higher step-up between adrenal vein and inferior vena cava blood than cortisol, can ascertain selectivity when cortisol failed to do so.

INSIDE in-beam positron emission tomography system for particle range monitoring in hadrontherapy.

The quality assurance of particle therapy treatment is a fundamental issue that can be addressed by developing reliable monitoring techniques and indicators of the treatment plan correctness. Among the available imaging techniques, positron emission tomography (PET) has long been investigated and then clinically applied to proton and carbon beams. In 2013, the Innovative Solutions for Dosimetry in Hadrontherapy (INSIDE) collaboration proposed an innovative bimodal imaging concept that combines an in-beam PET scanner with a tracking system for charged particle imaging.

Orbital breathing effects in the computation of x-ray d-ion spectra in solids by ab initio wave-function-based methods.

In existing theoretical approaches to core-level excitations of transition-metal ions in solids relaxation and polarization effects due to the inner core hole are often ignored or described phenomenologically. Here we set up an ab initio computational scheme that explicitly accounts for such physics in the calculation of x-ray absorption and resonant inelastic x-ray scattering spectra. Good agreement is found with experimental transition-metal L-edge data for the strongly correlated d cuprate LiCuO, for which we determine the absolute scattering intensities.

Bladder function in obstructed men - does age matter?

Aim: The high prevalence of diseases and disabilities in the elderly will therefore impose major future challenges for governments, particularly in social security, health system and social care.

Methods: Nine hundred and seventy-one men, 40 years or older referred for low urinary tract symptoms (LUTS) evaluation who underwent full urodynamic investigation, were reviewed. Urodynamic parameters were obtained, such as Uroflowmetry, those of Filling Cystometry and those of pressure flow study (PFS).

ATXN2 polyQ intermediate repeats are a modifier of ALS survival.

Objective: To analyze the frequency and clinical characteristics of patients with amyotrophic lateral sclerosis (ALS) with intermediate-length (CAG) expansion (encoding 27-33 glutamines, polyQ) in the ATXN2 gene, in a population-based cohort of Italian patients with ALS (discovery cohort), and to replicate the findings in an independent cohort of consecutive patients from an ALS tertiary center (validation cohort).

Methods: PolyQ repeats were assessed in 672 patients with incident ALS in Piemonte and Valle d'Aosta regions, Italy, in the 2007-2012 period (discovery cohort); controls were 509 neurologically healthy age- and sex-matched subjects resident in the study area. The validation cohort included 661 patients with ALS consecutively seen between 2001 and 2013 in the ALS Clinic Center of the Catholic University in Rome, Italy.

The role of oxidized low-density lipoproteins in atherosclerosis: the myths and the facts.

The oxidative modification hypothesis of atherosclerosis, which assigns to oxidized low-density lipoproteins (LDLs) a crucial role in atherosclerosis initiation and progression, is still debated. This review examines the role played by oxidized LDLs in atherogenesis taking into account data derived by studies based on molecular and clinical approaches. Experimental data carried out in cellular lines and animal models of atherosclerosis support the proatherogenic role of oxidized LDLs: (a) through chemotactic and proliferating actions on monocytes/macrophages, inciting their transformation into foam cells; (b) through stimulation of smooth muscle cells (SMCs) recruitment and proliferation in the tunica intima; (c) through eliciting endothelial cells, SMCs, and macrophages apoptosis with ensuing necrotic core development.

Influence of oxidative stress on inducing micturition dysfunction following chronic infravesical obstruction and the protective role of an antioxidant diet - association of in vivo and in vitro studies in rats.

Objective: This study was developed to determine whether the generation of free radicals, induced by ischemia followed by reperfusion in a model of chronic intravesical obstruction in rats, would lead to damage in the detrusor. It also investigates the possible protective action of the flavonoid galangin on the tissue lesion induced by lipid peroxidation.

Materials And Methods: Twenty-one male rats were divided into three groups of seven animals each.

Role of FK506-binding protein 51 in the control of apoptosis of irradiated melanoma cells.

FK506-binding protein 51 (FKBP51) is an immunophilin with isomerase activity, which performs important biological functions in the cell. It has recently been involved in the apoptosis resistance of malignant melanoma. The aim of this study was to investigate the possible role of FKBP51 in the control of response to ionizing radiation (Rx) in malignant melanoma.