Hypogonadism in DM1 and its relationship to erectile dysfunction

Myotonic dystrophy type 1 (DM1) is characterized by both a premature appearance of age-related phenotypes and multiple organ involvement, which affects skeletal and smooth muscle as well as the eye, heart, central nervous system, and endocrine system. Although erectile dysfunction (ED) is a frequent complaint in patients with DM1, it has not been investigated in great depth. Hypogonadism, which is reported to be one of the physical causes of ED in the general population, frequently occurs in DM1. We planned this case-control study to evaluate the relationship between hypogonadism, as defined by the sexual hormone profile (FSH, LH, testosterone (T) and prolactin) and ED, as assessed by means of an internationally validated self-administered questionnaire (IIEF). DM1 patients had significantly increased mean levels of both gonadotropins (FSH and LH) (p < 0.0001) and a reduced mean level of T (p < 0.0001) when compared to controls. Twelve patients were eugonadic (normal LH, T, and FSH), while 18 displayed hormonal evidence of hypogonadism, characterized by tubular failure (increased FSH) in all the subjects and associated with interstitial failure in 14 subjects: seven with primary hypogonadism (increased LH and reduced T) and seven with compensated hypogonadism (increased LH and normal T). Patients with hormonal evidence of interstitial failure had a larger CTG expansion (p = 0.008), longer disease duration (p = 0.013), higher grade of disease (p = 0.004) and lower erectile function score (p = 0.02) than eugonadic patients. Impotence occurred in 13/14 hypogonadic patients with interstitial failure and in 5/12 eugonadic patients (p = 0.017, OR = 18.2)

COVID-19-associated Guillain-Barré syndrome in the early pandemic experience in Lombardia (Italy)

Objective To estimate the incidence and describe clinical characteristics and outcome of GBS in COVID-19 patients (COVID19-GBS) in one of the most hit regions during the frst pandemic wave, Lombardia. Methods Adult patients admitted to 20 Neurological Units between 1/3–30/4/2020 with COVID19-GBS were included as part of a multi-center study organized by the Italian society of Hospital Neuroscience (SNO). Results Thirty-eight COVID19-GBS patients had a mean age of 60.7 years and male frequency of 86.8%. CSF albuminocytological dissociation was detected in 71.4%, and PCR for SARS-CoV-2 was negative in 19 tested patients. Based on neurophysiology, 81.8% of patients had a diagnosis of AIDP, 12.1% of AMSAN, and 6.1% of AMAN. The course was favorable in 76.3% of patients, stable in 10.5%, while 13.2% worsened, of which 3 died. The estimated occurrence rate in Lombardia ranges from 0.5 to 0.05 GBS cases per 1000 COVID-19 infections depending on whether you consider positive cases or estimated seropositive cases. When we compared GBS cases with the pre-pandemic period, we found a reduction of cases from 165 to 135 cases in the 2-month study period in Lombardia. Conclusions We detected an increased incidence of GBS in COVID-19 patients which can refect a higher risk of GBS in COVID-19 patients and a reduction of GBS events during the pandemic period possibly due to a lower spread of more common respiratory infectious diseases determined by an increased use of preventive measures

Dupilumab in the treatment of severe uncontrolled chronic rhinosinusitis with nasal polyps (CRSwNP): A multicentric observational Phase IV real-life study (DUPIREAL)

Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is associated with significant morbidity and reduced health-related quality of life. Findings from clinical trials have demonstrated the effectiveness of dupilumab in CRSwNP, although real-world evidence is still limited. Methods This Phase IV real-life, observational, multicenter study assessed the effectiveness and safety of dupilumab in patients with severe uncontrolled CRSwNP (n = 648) over the first year of treatment. We collected data at baseline and after 1, 3, 6, 9, and 12 months of follow-up. We focused on nasal polyps score (NPS), symptoms, and olfactory function. We stratified outcomes by comorbidities, previous surgery, and adherence to intranasal corticosteroids, and examined the success rates based on current guidelines, as well as potential predictors of response at each timepoint. Results We observed a significant decrease in NPS from a median value of 6 (IQR 5–6) at baseline to 1.0 (IQR 0.0–2.0) at 12 months (p &lt; .001), and a significant decrease in Sino-Nasal Outcomes Test-22 (SNOT-22) from a median score of 58 (IQR 49–70) at baseline to 11 (IQR 6–21; p &lt; .001) at 12 months. Sniffin' Sticks scores showed a significant increase over 12 months (p &lt; .001) compared to baseline. The results were unaffected by concomitant diseases, number of previous surgeries, and adherence to topical steroids, except for minor differences in rapidity of action. An excellent-moderate response was observed in 96.9% of patients at 12 months based on EPOS 2020 criteria. Conclusions Our findings from this large-scale real-life study support the effectiveness of dupilumab as an add-on therapy in patients with severe uncontrolled CRSwNP in reducing polyp size and improving the quality of life, severity of symptoms, nasal congestion, and smell

Tectonic control on the development and distribution of large landslides in the Northern Apennines (Italy)

The causes of landslides generally invoked in the Northern Apennines of Italy do not fully explain some observed oriented distributions of large landslides along regional-scale tectonic structures (late orogenic antiforms). The aim of the work is to deeply explore the role of tectonics in controlling the development and arrangement of large landslides. Weemployed amultidisciplinary approach which took into account geomorphological and geological field data, topographic analysis and deep seismic reflection profiles integrated with previously published apatite fission track cooling ages, shallow geophysical and GPS data. In order to explore these relationships, the Valmozzola areawas selected as suitable case study, owing to the presence of clearly expressed relationships between recent extensional faults and related fractures and elements of active landslides. Moreover, in the Valmozzola area contractional tectonics acted to produce rock uplift and thus topographic growth. These processes caused hillslopes to approach their threshold angle, and promoted landslides triggered mainly by climate factors. The geological and geomorphological features characterizing the Valmozzola case study affect the entire study area, as they evolved during the sametectonic and climatic phases that characterized this part of theNorthern Apennines. Therefore, the results fromthe Valmozzola area act as a proxy to constrain the control exerted by tectonics on large landslides across a wider area. The distribution of the large landslides has been controlled by tectonics which determined lines of weakness and failure surfaces (passive role) affecting the slopes. On the other hand, tectonics also caused the topographic growth and over-steepening of the slopes (active role) that promoted the occurrence of large landslides. The distribution of large landslides may, therefore, highlight the existence of tectonic processes and it may be used as an indicator of regional-scale tectonic activity, once the geological and geomorphological framework is well constrained

Tectonic control on the development and distribution of large landslides in the Northern Apennines (Italy)

The causes of landslides generally invoked in the Northern Apennines of Italy do not fully explain some observed oriented distributions of large landslides along regional-scale tectonic structures (late orogenic antiforms). The aim of the work is to deeply explore the role of tectonics in controlling the development and arrangement of large landslides. Weemployed amultidisciplinary approach which took into account geomorphological and geological field data, topographic analysis and deep seismic reflection profiles integrated with previously published apatite fission track cooling ages, shallow geophysical and GPS data. In order to explore these relationships, the Valmozzola areawas selected as suitable case study, owing to the presence of clearly expressed relationships between recent extensional faults and related fractures and elements of active landslides. Moreover, in the Valmozzola area contractional tectonics acted to produce rock uplift and thus topographic growth. These processes caused hillslopes to approach their threshold angle, and promoted landslides triggered mainly by climate factors. The geological and geomorphological features characterizing the Valmozzola case study affect the entire study area, as they evolved during the sametectonic and climatic phases that characterized this part of theNorthern Apennines. Therefore, the results fromthe Valmozzola area act as a proxy to constrain the control exerted by tectonics on large landslides across a wider area. The distribution of the large landslides has been controlled by tectonics which determined lines of weakness and failure surfaces (passive role) affecting the slopes. On the other hand, tectonics also caused the topographic growth and over-steepening of the slopes (active role) that promoted the occurrence of large landslides. The distribution of large landslides may, therefore, highlight the existence of tectonic processes and it may be used as an indicator of regional-scale tectonic activity, once the geological and geomorphological framework is well constrained

Erectile dysfunction in myotonic dystrophy type 1 (DM1)

[No abstract available