A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature Review.

Background/objectives: Identifying novel variants in very rare disease genes can be challenging when patients exhibit a complex phenotype that expands the one described, and we provide such an example here. A few terminal truncating variants in cause spastic paraplegia (SP), intellectual disability (ID), nystagmus, and obesity (SINO, MIM #617296). Prompted by the result of next-generation sequencing on a patient referred for SP associated with complex brain dysmorphisms, we reviewed the phenotype of SINO patients focusing on their brain malformations, mainly described in prenatal age and first years of life, and tried to understand if the predicted effect of the mutant kidins220 may have caused them.

COVID-19 Vaccine Hesitancy in Italian Adults with Marfan Syndrome: Insights from a Secondary Analysis of a Cross-Sectional Study.

Although vaccine hesitancy has been reported in many patient groups and countries, there is a lack of data on vaccine hesitancy in patients with Marfan syndrome (MFS). MFS is a rare genetic disorder that can lead to cardiovascular, ocular, and musculoskeletal issues. Because MFS patients may face an increased risk of COVID-19 complications, vaccination is crucial for this population.

Perivascular Adipose Tissue Attenuation on Computed Tomography beyond the Coronary Arteries. A Systematic Review.

(1) Background: Perivascular adipose tissue attenuation, measured with computed tomography imaging, is a marker of mean local vascular inflammation since it reflects the morphological changes of the fat tissue in direct contact with the vessel. This method is thoroughly validated in coronary arteries, but few studies have been performed in other vascular beds. The aim of the present study is to provide insight into the potential application of perivascular adipose tissue attenuation through computed tomography imaging in extra-coronary arteries.

Is SF-12 a valid and reliable measurement of health-related quality of life among adults with Marfan syndrome? A confirmatory study.

Introduction: The structural validity and reliability of the Short-Form Health Survey 12 (SF-12) has not yet been tested in adults with the Marfan syndrome (MFS). This gap could undermine an evidence-grounded practice and research, especially considering that the need to assess health-related quality of life in patients with MFS has increased due to the improved life expectancy of these patients and the need to identify their determinants of quality of life. For this reason, this study aimed to confirm the dimensionality (structural validity) of the SF-12, its concurrent validity, and its reliability (internal consistency).

eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN).

Background: The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) was launched in 2017 and involves, to date, 35 highly specialised multidisciplinary expert centres (from the 30 full Healthcare Provider members) coming from 11 countries and more than 70 patient organizations from 16 countries. The eHealth Working Group (WG) of VASCERN was set up to develop practical, patient-centred solutions and strategies for effective use of eHealth tools to answer the needs of patients with multisystemic vascular rare diseases.

The Ehealth Wg: Following the identified patients' needs and following the guiding principles of collaboration and patient-centredness, the eHealth WG was created with the following aims: to develop a mobile app to help patients find expert centres and patient organizations, and to develop resources (Pills of Knowledge, PoK) for training and education via digital platforms (eLearning).

Abdominal Symptoms and Colonic Diverticula in Marfan's Syndrome: A Clinical and Ultrasonographic Case Control Study.

Background: Marfan's syndrome (MFS) seems to be frequently associated with colonic diverticulosis, but the prevalence of diverticula and symptoms evocative of diverticular disease in this population are still unknown.

Methods: This prospective case control study included 90 consecutive patients with MFS, 90 unselected controls, and 90 asymptomatic subjects. The clinical characteristics, including lower gastrointestinal symptoms, and ultrasonographic features of the bowel, including diverticula and thickening of the muscularis propria of the sigmoid colon, were investigated.

Increased fracture rate in children and adolescents with Marfan syndrome.

Marfan syndrome (MFS) is an autosomal genetic disorder of connective tissue, due to alterated fibrillin-1. The aim of our study was to verify the rate of fractures in children with MFS in correlation to bone mineral density and compare the prevalence to the general population in the same latitude. We enrolled 80 patients (37 girls and 43 boys) with the diagnosis of Marfan syndrome, median age 10 y (3 to 17 years).

Negative autopsy and sudden cardiac death.

Forensic medicine defines the unexplained sudden death as a death with a non-conclusive diagnosis after autopsy. Molecular diagnosis is being progressively incorporated in forensics, mainly due to improvement in genetics. New genetic technologies may help to identify the genetic cause of death, despite clinical interpretation of genetic data remains the current challenge.