Establishment of a Biorepository for Down Syndrome: Experience of the Inter-Institutional Multidisciplinary BioBank - BioBIM.

BACKGROUND: Down syndrome, or Trisomy 21, is the leading genetic cause of cognitive disability in children and is associated with a high risk of several comorbidities, particularly congenital heart defects, early onset Alzheimer's disease, leukaemia, and autoimmune disorders. OBJECTIVE: This study describes the design, methods, and operational procedures employed to establish a biobank dedicated to Down syndrome that can support research projects investigating the effects of various genetic and environmental factors on this complex disease. METHODS: Blood was collected from all recruited subjects, processed, aliquoted and immediately frozen at -80 °C in the Interinstitutional Multidisciplinary BioBank (BioBIM) facilities. A small aliquot of the sample was used to perform blood tests for which analysis would not be feasible at a later date, such as blood cell counts. Each biological sample was coded, assigned a Standard PREanalytical Code, and registered in the oloBIOBANK software connected to a medical card containing all the donor's anamnestic data. All samples were stored under continuous real-time temperature recording using a freezer connected to a T-GUARD alarm system. In addition, a radiofrequency identification tracking system strictly monitored each cryopreservation operation performed throughout the sample lifecycle. RESULTS: Biological samples were collected from 454 individuals with Down syndrome from 2007 to 2023. A total of 2233 biological samples were available for research purposes, including whole blood in different anticoagulants, serum, plasma, and frozen peripheral blood mononuclear cells. The quality of the nucleic acids obtained through specific standard operating procedures demonstrated that these samples were appropriate for clinical and basic research. CONCLUSION: By establishing this biobank, we have gathered a significant number of biological samples and clinical data from individuals with Down syndrome, thereby fostering collaboration between different research groups in an open and transparent manner. Sharing expertise and resources among scientists will ultimately facilitate the transfer of knowledge to clinical practice, leading to the development of more effective therapeutic treatments to improve the outcomes and quality of life of patients with Down syndrome.

Influence of Foot Morphology on the Center of Pressure Pattern in Patients with Down Syndrome.

BACKGROUND: The primary aim of this study was to assess how different conformations of the foot in individuals with Down syndrome affected the CoP during walking, and the secondary aim was to evaluate the effect of an excess of mass in young adults and children with Down syndrome and flat foot. The greater investigation of these aspects will allow for more targeted rehabilitation treatments to improve a patient's quality of life. METHODS: The tests were carried out on 217 subjects with Down syndrome, 65 children and 152 young adults, and on 30 healthy individuals, 19 children and 11 young adults. All subjects underwent gait analysis, and the group with Down syndrome was also assessed with baropodometric tests to evaluate foot morphology. RESULTS: The statistical analysis showed that within both the young adult and child groups, the CoP pattern in the anterior-posterior direction reflected a difficulty in proceeding in the walking direction compensated by a medio-lateral swing. The gait of children with Down syndrome was more impaired than that of young adults. In both young adults and children, a higher severity of impairment was found in overweight and obese female individuals. CONCLUSIONS: These results suggest that the sensory deficits and the development of hypotonic muscles and lax ligaments of the syndrome lead to morphological alterations of the foot that, combined with the physical characteristics of short stature and obesity, negatively impact the CoP pattern of people with Down syndrome during walking.

COVID-19 Vaccination in Cancer Patients Older Than 70 Years Undergoing Active Treatment. Seroconversion Rate and Safety.

Patients with cancer have a high risk of intubation, intensive care unit admission, or death from the coronavirus disease (COVID-19); age and comorbidities are additional risk factors. Vaccination is effective against COVID-19; however, patients with cancer have been excluded from pivotal clinical trials for COVID-19 vaccines. Data on COVID-19 vaccination in cancer patients who are older are lacking. This observational study was conducted to evaluate the seropositivity rate and safety of a two-dose regimen of the BNT162b2 or mRNA1273 vaccine in older patients (age ≥ 70 years) with solid tumors or with hematological malignances who are undergoing active anticancer treatment or whose treatment has been terminated within 6 months of vaccination. The control group was composed of healthy volunteers that were age-matched with the patient group. The primary endpoint was the seropositivity rate, and the secondary endpoints were safety, the factors influencing seroconversion, the IgG titers of patients versus healthy volunteers, and post-vaccine COVID-19 infection between 20 March 2021 and 14 July 2021. At our Institution (Oncology and Hematology Department, Hospital of Piacenza, North Italy), 443 patients with cancer underwent a program for COVID-19 vaccination; 115 (25.95%) were older than 70 (range 71-86 years) and form the basis of this study. All 115 patients accepted the vaccination. There were 64 female patients (55.65%), 94 patients (81.74%) with solid tumors, and 21 patients (18.26%) with hematological malignances. The primary endpoint of seropositivity was observed in 75 patients (65.22%)-70.21% in patients with solid tumors and 42.86% in patients with hematological malignances-versus in 100% of patients in the control group. Of the secondary endpoints, no grade 3-4 side effects and no COVID-19 infections were reported. The factor influencing seroconversion was the type of cancer. The patients' median IgG titers were significantly lower than in the control groups. The COVID-19 vaccines BNT162b2 and mRNA1273 were effective and safe among older patients with cancer when administered in real-world conditions.

Quantification of the effects of robotic-assisted gait training on upper and lower body strategy during gait in diplegic children with Cerebral Palsy using summary parameters.

The effects of robotic-assisted gait training on upper and lower body strategy during gait in diplegic children with Cerebral Palsy (CP) were quantified using summary parameters (Upper Body Profile Score (UBPS) and Gait Profile Score (GPS)). Firstly, the upper body strategy during gait was assessed in 73 children with CP and 15 healthy children (Control Group: CG): patients with CP exhibited higher values of most of the summary parameters of the upper body position than the CG. Then, the effects of a robotic-assisted gait training in a sub-group of 35 children by means of UBPS were evaluated. After robotic-assisted gait training program, no significant differences as for the summary parameters (UBPS and GPS). However, considering the specific variables scores, significant improvements are displayed as for the upper body parameter on the sagittal plane (Upper Body Ant/Pst index) and the lower limbs, in particular pelvis (Pelvic Ant/Pst and Pelvic Int/Ext indices) and as for walking velocity. A sort of reorganization of full-body kinematics, especially at upper body and proximal level (pelvis) seems to appear, with a new gait approach, characterised by a better strategy of the upper body associated with a significant improvement of the pelvis movement.

Bilateral Foot Orthoses Elicit Changes in Gait Kinematics of Adolescents with Down Syndrome with Flatfoot.

Background: Subjects with Down Syndrome (DS) are characterized by specific physiological alterations, including musculoskeletal abnormalities. Flat Foot (FF), caused by hypotonia and ligament laxity, represents one of the most common disabling disorders in this population. Conservative treatments promote the use of orthopaedic insoles and plantar supports. The aim of this study was to evaluate the impact of Foot Orthoses (FOs) on the gait pattern of subjects with DS, assessing the biomechanical effects associated with their use. Methods: Twenty-nine subjects were screened under two conditions-walking barefoot (WB); with shoes and insoles (WSI), during three trials for each. Assessments were performed through the 3D gait analysis, using an optoelectronic system, force platforms, and video recording. Specifically, synthetic indices of gait kinematics, i.e., gait profile score (GPS) and gait variable score (GVS) were calculated and compared with Wilcoxon signed-rank test, to evaluate between-conditions. Results: Significant variations were found in GVS foot progression index, representative of foot rotation during walking, in adolescents only. Conclusions: Bilateral FOs has a positive immediate impact on gait quality in adolescents with DS, as confirmed by quantitative analysis. FOs prescription is an evidence-based early approach to slow down biomechanical abnormalities and prevent relative symptoms.