Convalescent Plasma for Hospitalized COVID-19 Patients: A Single-Center Experience.

In Winter 2020, Italy, and in particular the Lombardy region, was the first country in the Western hemisphere to be hit by the COVID-19 pandemic. Plasma from individuals recovered from COVID-19 (COVID-19 convalescent plasma, CCP) was the first therapeutic tool adopted to counteract the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). In this retrospective cohort study, we report the experience of the city hospital of Mantua, Lombardy region, on the compassionate use of CCP in patients hospitalized for severe COVID-19.

The seroprevalence of the hepatitis B virus in Italian medical students after 3 decades since the introduction of universal vaccination.

Objectives: Since 1991 hepatitis B vaccination has been mandatory for all newborns in Italy. The aim of the study was to verify the long-term seroprevalence and the efficacy of hepatitis B vaccination in medical students of the University of Siena.

Material And Methods: A cross-sectional observational study was conducted on a population of 850 medical students of the University of Siena (322 males and 528 females, mean age: 23 years) by obtaining from the medical reports the serological analysis data for the total anti-hepatitis B antibodies (HBsAb) and information on hepatitis B vaccination (number of vaccine doses, age at the first vaccination, time since the final vaccination dose, country of origin).

TM9SF4 expression in tumor tissues: a novel diagnostic biomarker for gastrointestinal tumors.

Background: The identification of novel biomarkers for the early detection and monitoring of gastric (GC) and colorectal cancer (CRC) is of paramount importance. TM9SF4 is a newly described V-ATPase interacting protein involved in the malignant progression of cancer cells. While TM9SF4 expression pattern and cellular localization have been described in in tumor cell lines of different histotypes, its expression in gastrointestinal tumor tissues has never been investigated.

Isolation of extracellular vesicles improves the detection of mutant DNA from plasma of metastatic melanoma patients.

Detection of BRAF within cell free tumor DNA (ctDNA) is emerging as a promising means to improve patients' stratification or enable BRAF inhibitor (BRAFi) therapeutic monitoring in a minimally invasive manner. Here, we investigated whether extracellular vesicle-(EV)-associated-DNA (EV-DNA) has value as an alternative source of circulating BRAF. To do so, we identified a clinical practice-compatible protocol for the isolation of EV-DNA and assessed BRAF gene status on plasma samples from metastatic melanoma patients at the beginning and during BRAFi therapy.

When Less Is More: Specific Capture and Analysis of Tumor Exosomes in Plasma Increases the Sensitivity of Liquid Biopsy for Comprehensive Detection of Multiple Androgen Receptor Phenotypes in Advanced Prostate Cancer Patients.

We evaluated the advantages and the reliability of novel protocols for the enrichment of tumor extracellular vesicles (EVs), enabling a blood-based test for the noninvasive parallel profiling of multiple androgen receptor ( gene alterations. Three clinically relevant variants related to response/resistance to standard-of-care treatments (-V7 transcript, T878A point mutation and gene amplification) were evaluated by digital PCR in 15 samples from patients affected by Castration-Resistant Prostate Cancer (CRPC). Plasma was processed to obtain circulating RNA and DNA using protocols based on tumor EVs enrichment through immuno-affinity and peptide-affinity compared to generic extraction kits.

Impact of rehabilitation on mortality and readmissions after surgery for hip fracture.

Background: Hip fracture in elderly patients is a rising global public health concern because of population ageing, and increasing frailty. Long-term morbidity related to poor management of hip fracture is associated with decreased quality of life, survival, and increase in healthcare costs. Receiving postoperative rehabilitation is associated with better outcomes and a higher likelihood of returning to pre-existing level of functioning.

iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome.

Mutations in MECP2 gene have been identified in more than 95% of patients with classic Rett syndrome, one of the most common neurodevelopmental disorders in females. Taking advantage of the breakthrough technology of genetic reprogramming, we investigated transcriptome changes in neurons differentiated from induced Pluripotent Stem Cells (iPSCs) derived from patients with different mutations. Profiling by RNA-seq in terminally differentiated neurons revealed a prominent GABAergic circuit disruption along with a perturbation of cytoskeleton dynamics.

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.

We report here the case of a young male who started to show verbal fluency disturbance, clumsiness and gait anomalies at the age of 3.5years and presented bilateral striatal necrosis. Clinically, the diagnosis was compatible with Leigh syndrome but the underlying molecular defect remained elusive even after exome analysis using autosomal/X-linked recessive or de novo models.

Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses.

Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by means of post-termination examination on the second fetus. The quantitative fluorescent PCR, the karyotype, and the comparative genomic hybridization-array analysis after amniocentesis were normal.

Exploiting the potential of next-generation sequencing in genomic medicine.

Introduction: The review highlights the impact of next-generation sequencing (NGS) on genomic medicine and the consequences of the progression from a single-gene panel technology to a whole exome sequencing approach.

Areas Covered: We brought together literature-based evidences, personal unpublished data and clinical experience to provide a critical overview of the impact of NGS on our daily clinical practice. Expert commentary: NGS has changed the role of clinical geneticist and has broadened the view accomplishing a transition from a monogenic Mendelian perspective to an oligogenic approach to disorders.

Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress.

We highlight the importance of exome sequencing in solving a clinical case of a child who died at 14 months after a series of respiratory crises. He was the half-brother of a girl diagnosed at 7 years with the early-onset seizure variant of Rett syndrome due to CDKL5 mutation. We performed a test for CDKL5 in the boy, which came back negative.

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.

Background: Neurodevelopmental disorders include a broad spectrum of conditions, which are characterized by delayed motor and/or cognitive milestones and by a variable range of intellectual disability with or without an autistic behavior. Several genetic factors have been implicated in intellectual disability onset and exome sequencing studies have recently identified new inherited or de novo mutations in patients with neurodevelopmental disorders.

Case: We report the case of two monozygotic twins who came for the first time to our attention at the age of 20months for a global neurodevelopmental delay associated with an autism spectrum disorder, hypotonia, postnatal microcephaly, stereotypic movements and circadian rhythm alterations in association with late-onset epilepsy.

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.

Methyl-CpG-binding protein 2 (MeCP2) is a nuclear protein highly expressed in neurons that is involved in transcriptional modulation and chromatin remodeling. Mutations in MECP2 in females are associated with Rett syndrome, a neurological disorder characterized by a normal neonatal period, followed by the arrest of development and regression of acquired skills. Although it was initially thought that MECP2 pathogenic mutations in males were not compatible with life, starting from 1999 about 60 male patients have been identified and their phenotype varies from severe neonatal encephalopathy to mild intellectual disability.

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.

Rett syndrome (OMIM#312750) is a monogenic disorder that may manifest as a large variety of phenotypes ranging from very severe to mild disease. Since there is a weak correlation between the mutation type in the Xq28 disease-gene MECP2/X-inactivation status and phenotypic variability, we used this disease as a model to unveil the complex nature of a monogenic disorder. Whole exome sequencing was used to analyze the functional portion of the genome of two pairs of sisters with Rett syndrome.

[Is viscoelastic the corneal tissue?].

Purpose: To compare the known viscoelastic properties of soft tissues with singular published observations on the behaviour of corneal tissue.

Materials And Methods: The behaviour of the maxwellian element, typical viscoelastic biomechanical model, is compared with that of various previously studied soft tissues of animals. The same comparison can be made between stress-strain curves of riboflavin and UVA treated and untreated strips of human and porcine corneal tissue, stretched at constant velocity, from the literature.

Keratoconus, cross-link-induction, comparison between fitting exponential function and a fitting equation obtained by a mathematical model.

With reference to experimental data in the literature, we present a model consisting of two elastic elements, conceived to simulate resistance to stretching, at constant velocity of elongation, of corneal tissue affected by keratoconus, treated with riboflavin and ultraviolet irradiation to induce cross-linking. The function describing model behaviour adapted to stress and strain values. It was found that the Young's moduli of the two elastic elements increased in cross-linked tissues and that cross-linking treatment therefore increased corneal rigidity.

[The new magnetic therapy TAMMEF in the treatment of simple shoulder pain].

Aims: Numerous studies have demonstrated the utility of extremely low frequencies (ELF) electromagnetic fields in the treatment of pain. Moreover, the effects of these fields seems to depend on their respective codes (frequency, intensity, waveform). In our study we want to assess the effects of the TAMMEF (Therapeutic Application of a Musically Modulated Electromagnetic Field) system, whose field is piloted by a musical signal and its parameters (frequency, intensity, waveform) are modified in time, randomly varying within the respective ranges, so that all possible codes can occur during a single application.

Monte Carlo dose calculations using MCNP4C and EGSnrc/BEAMnrc codes to study the energy dependence of the radiochromic film response to beta-emitting sources.

The energy dependence of the radiochromic film (RCF) response to beta-emitting sources was studied by dose theoretical calculations, employing the MCNP4C and EGSnrc/BEAMnrc Monte Carlo codes. Irradiations with virtual monochromatic electron sources, electron and photon clinical beams, a (32)P intravascular brachytherapy (IVB) source and other beta-emitting radioisotopes ((188)Re, (90)Y, (90)Sr/(90)Y,(32)P) were simulated. The MD-55-2 and HS radiochromic films (RCFs) were considered, in a planar or cylindrical irradiation geometry, with water or polystyrene as the surrounding medium.

Management of 131I therapy for thyroid cancer: cumulative dose from in-patients, discharge planning and personnel requirements.

Aim: To provide a comprehensive overview with regard to the hospitalization/discharge planning and nursing staff requirements for the management of patients treated with radioiodine for differentiated thyroid carcinoma.

Methods: A statistical analysis of the fast clearance phase of 131I was performed in 265 hospitalized patients treated after total thyroidectomy with fixed doses ranging from 2590 to 9250 MBq.

Results: Two hundred and twenty-five cases were post-surgical ablation treatments and 40 cases were follow-up treatments.

Prevalence of Helicobacter pylori infection in male patients with osteoporosis and controls.

Cytokines that regulate bone turnover (tumor necrosis factor-alpha, interleukin-6, etc.) may influence the pathogenesis of skeleton disorders, such as osteoporosis. Since Helicobacter pylori infection increases the systemic levels of inflammatory cytokines, we investigated the possibility that this infection increases the risk of developing osteoporosis and affects the bone metabolism in a group of male patients with osteoporosis.

Efficacy and safety of a musically modulated electromagnetic field (TAMMEF) in patients affected by knee osteoarthritis.

Objective: Numerous studies have demonstrated the utility of extremely low frequencies (ELF) electromagnetic fields in clinical practice. Moreover, the effects of these fields seems to depend on their respective codes (frequency, intensity, waveform). In our study we want to value the effects of the TAMMEF (Therapeutic Application of a Musically Modulated Electromagnetic Field) system, which field is piloted by a musical signal.

Helicobacter pylori infection and infertility.

Objective: To determine (1) the prevalence of Helicobacter pylori infection in male and female patients with reproductive disorders and controls; (2) the presence of anti-H. pylori antibodies in samples of follicular fluid, vaginal secretions and sperm; and (3) the existence of a structural homology between a major spermatozoa protein, tubulin, and H. pylori proteins.

[Internet: a fundamental tool for the retrieval of the information useful for medical research and health care in oncology].

Internet represents an essential aid for the professional updating of physicians and researches. Also for the research and therapy in oncology, Internet provides important such as bibliographic data, trials and guidelines with full text, as well as epidemiologic and statistical data. Some of the most authoritative sites are indicated.

Risk factors for acquiring Helicobacter pylori infection in a group of Tuscan teenagers.

Risk factors for acquiring Helicobacter pylori infection include hygienic, social, and environmental conditions. Some of these conditions usually change over time. We therefore investigated the existence of risk factors in a group of teenagers living in a place with the same environmental characteristics, in which hygienic and crowding conditions have not changed significantly in the last 20 years.

[Usefulness of online bibliographic research in biomedical research, with an application to the epidemiologic study of genetic osteopathy].

The bibliographic research online is an useful means of recovering information in all the subjects, particularly in the field of biomedicine. In fact, this instrument allows researchers to get information in a rapid, complete and up-to-date way. The aim of the present review is to describe the usefulness of the bibliographical research online in the field of the genetic osteopathies.