Sarcopenia and bone health: new acquisitions for a firm liaison

Osteosarcopenia (OS) is a newly defined condition represented by the simultaneous presence of osteopenia/osteoporosis and sarcopenia, the main age-related diseases. The simultaneous coexistence of the two phenotypes derives from the close connection of the main target tissues involved in their pathogenesis: bone and muscle. These two actors constitute the bone-muscle unit, which communicates through a biochemical and mechanical crosstalk which involves multiple factors. Altered pattern of molecular pathways leads to an impairment of both the functionality of the tissue itself and the communication with the complementary tissue, composing the OS pathogenesis. Recent advances in the genetics field have provided the opportunity to delve deeper into the complex biological and molecular mechanisms underlying OS. Unfortunately, there are still many gaps in our understanding of these pathways, but it has proven essential to apply strategies such as exercise and nutritional intervention to counteract OS. New therapeutic strategies that simultaneously target bone and muscle tissue are limited, but recently new targets for the development of dual-action drug therapies have been identified. This narrative review aims to provide an overview of the latest scientific evidence associated with OS, a complex disorder that will pave the way for future research aimed at understanding the bone-muscle-associated pathogenetic mechanisms

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population

Hearing loss is the most frequent sensorineural disorder, affecting approximately 1:1000 newborns. Hereditary forms (HHL) represent 50–60% of cases, highlighting the relevance of genetic testing in deaf patients. HHL is classified as non-syndromic (NSHL—70% of cases) or syndromic (SHL—30% of cases). In this study, a multistep and integrative approach aimed at identifying the molecular cause of HHL in 102 patients, whose GJB2 analysis already showed a negative result, is described. In NSHL patients, multiplex ligation probe amplification and long-range PCR analyses of the STRC gene solved 13 cases, while whole exome sequencing (WES) identified the genetic diagnosis in 26 additional ones, with a total detection rate of 47.6%. Concerning SHL, WES detected the molecular cause in 55% of cases. Peculiar findings are represented by the identification of four subjects displaying a dual molecular diagnosis and eight affected by non-syndromic mimics, five of them presenting Usher syndrome type 2. Overall, this study provides a detailed characterisation of the genetic causes of HHL in the Italian population. Furthermore, we highlighted the frequency of Usher syndrome type 2 carriers in the Italian population to pave the way for a more effective implementation of diagnostic and follow-up strategies for this disease

Digital dermoscopy to determine skin melanin index as an objective indicator of skin pigmentation

Clinical assessment of skin photosensitivity is subjectively determined by erythema and tanning responses to sunlight recalled by the subject, alternatively known as Fitzpatrick Skin Phototype (SPT). Responses may be unreliable due to recall bias, subjective bias by clinicians and subjects, and lack of cultural sensitivity of the questions. Analysis of red-green-blue (RGB) color spacing of digital images may provide an objective determination of SPT. This paper presents the studies to assess the melanin index (MI), as determined by RGB images obtained by both standard digital camera as well as by videodermoscope, and to correlate the MI with SPT based upon subjects' verbal responses to standardized questions administered by a dermatologist. A sample of subjects representing all SPTs I–VI was selected. Both the digital camera and videodermoscope were calibrated at standard illumination, light source and white balance. Images of constitutive skin of the upper ventral arm were taken of each subject using both instruments. The studies showed that 58 subjects (20 M, 38 F) were enrolled in the study (mean age: 47 years; range: 20–89), stratified to skin phototype I–VI. MI obtained by using both digital camera and videodermoscope increased significantly as the SPT increased (p = 0.004 and p &lt; 0.0001, respectively) and positively correlated with dermatologist-assessed SPT (Spearman correlation, r = 0.48 and r = 0.84, respectively). Digital imaging can quantify melanin content in order to quantitatively approximate skin pigmentation in all skin phototypes including Type VI skin. This methodology holds promise as a simple, non-invasive, rapid and objective approach to reliably determine skin phototype and, with further investigation, may prove to be both practical and useful in the prediction of skin cancer risk.</p

Qualitative assessment of Tongue Drive System by people with high-level spinal cord injury

The Tongue Drive System (TDS) is a minimally invasive, wireless, and wearable assistive technology (AT) that enables people with severe disabilities to control their environments using tongue motion. TDS translates specific tongue gestures into commands by sensing the magnetic field created by a small magnetic tracer applied to the user’s tongue. We have previously quantitatively evaluated the TDS for accessing computers and powered wheelchairs, demonstrating its usability. In this study, we focused on its qualitative evaluation by people with high-level spinal cord injury who each received a magnetic tongue piercing and used the TDS for 6 wk. We used two questionnaires, an after-scenario and a poststudy, designed to evaluate the tongue-piercing experience and the TDS usability compared with that of the sip-and-puff and the users’ current ATs. After study completion, 73% of the participants were positive about keeping the magnetic tongue-barbell in order to use the TDS. All were satisfied with the TDS performance and most said that they were able to do more things using TDS than their current ATs (4.22/5)

COVID-19 Severity in Multiple Sclerosis: Putting Data Into Context

Background and objectives: It is unclear how multiple sclerosis (MS) affects the severity of COVID-19. The aim of this study is to compare COVID-19-related outcomes collected in an Italian cohort of patients with MS with the outcomes expected in the age- and sex-matched Italian population. Methods: Hospitalization, intensive care unit (ICU) admission, and death after COVID-19 diagnosis of 1,362 patients with MS were compared with the age- and sex-matched Italian population in a retrospective observational case-cohort study with population-based control. The observed vs the expected events were compared in the whole MS cohort and in different subgroups (higher risk: Expanded Disability Status Scale [EDSS] score &gt; 3 or at least 1 comorbidity, lower risk: EDSS score ≤ 3 and no comorbidities) by the χ2 test, and the risk excess was quantified by risk ratios (RRs). Results: The risk of severe events was about twice the risk in the age- and sex-matched Italian population: RR = 2.12 for hospitalization (p &lt; 0.001), RR = 2.19 for ICU admission (p &lt; 0.001), and RR = 2.43 for death (p &lt; 0.001). The excess of risk was confined to the higher-risk group (n = 553). In lower-risk patients (n = 809), the rate of events was close to that of the Italian age- and sex-matched population (RR = 1.12 for hospitalization, RR = 1.52 for ICU admission, and RR = 1.19 for death). In the lower-risk group, an increased hospitalization risk was detected in patients on anti-CD20 (RR = 3.03, p = 0.005), whereas a decrease was detected in patients on interferon (0 observed vs 4 expected events, p = 0.04). Discussion: Overall, the MS cohort had a risk of severe events that is twice the risk than the age- and sex-matched Italian population. This excess of risk is mainly explained by the EDSS score and comorbidities, whereas a residual increase of hospitalization risk was observed in patients on anti-CD20 therapies and a decrease in people on interferon

DMTs and Covid-19 severity in MS: a pooled analysis from Italy and France

We evaluated the effect of DMTs on Covid-19 severity in patients with MS, with a pooled-analysis of two large cohorts from Italy and France. The association of baseline characteristics and DMTs with Covid-19 severity was assessed by multivariate ordinal-logistic models and pooled by a fixed-effect meta-analysis. 1066 patients with MS from Italy and 721 from France were included. In the multivariate model, anti-CD20 therapies were significantly associated (OR&nbsp;=&nbsp;2.05, 95%CI&nbsp;=&nbsp;1.39–3.02, p&nbsp;&lt;&nbsp;0.001) with Covid-19 severity, whereas interferon indicated a decreased risk (OR&nbsp;=&nbsp;0.42, 95%CI&nbsp;=&nbsp;0.18–0.99, p&nbsp;=&nbsp;0.047). This pooled-analysis confirms an increased risk of severe Covid-19 in patients on anti-CD20 therapies and supports the protective role of interferon

Association of pemphigus and systemic corticosteroid use with comorbid health disorders: A case-control study

Background: Pemphigus is a group of debilitating autoimmune blistering disorders associated with painful blisters of the skin and/or mucous membranes. Identification and management of the comorbiditiesof pemphigus is critically important to minimize morbidity and decrease mortality.Objective: To identify the comorbid health conditions of pemphigus vulgaris.Methods: This was a case-control study of 130 cases of pemphigus verified by a clinical and laboratory diagnosis and 390 age and sex-matched controls with complete follow-up at a large metropolitanquaternary care medical center.Results: Pemphigus vulgaris and its treatments were significantly associated with type 2 diabetes mellitus (adjusted odds ratio [95% confidence interval]: 5.68 [2.93-11.02]), hypertension (2.15 [1.25-3.71]), osteopenia (10.07 [3.72-27.25]), osteoporosis (4.19 [1.50-11.73]), cataracts (7.00 [1.81-27.07]), insomnia (15.00 [1.75-128.39]), and benign prostatic hyperplasia (6.84 [1.79-26.18]). A history of taking systemic corticosteroids was found in 76% of pemphigus vulgaris patients. There were significant statistical interactions between pemphigus vulgaris and a history of using systemic corticosteroids as predictors of diabetes mellitus type 2, hypertension, osteoporosis, and insomnia.Conclusions: Safer and more effective systemic treatment options are needed for pemphigus to minimize iatrogenic complications of disease