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Purpose of the present paper is to point out the design, development and deployment of the AutoInflammatory Disease Alliance (AIDA) International Registry dedicated to pediatric and adult patients with Behçet’s disease (BD). The Registry is a clinical physician-driven non-population- and electronic-based instrument implemented for the retrospective and prospective collection of real-life data about demographics, clinical, therapeutic, laboratory, instrumental and socioeconomic information from BD patients; the Registry is based on the Research Electronic Data Capture (REDCap) tool, which is thought to collect standardised information for clinical real-life research, and has been realised to change over time according to future scientific acquisitions and potentially communicate with other existing and future Registries dedicated to BD. Starting from January 31st, 2021, to February 7th, 2022, 110 centres from 23 countries in 4 continents have been involved. Fifty-four of these have already obtained the approval from their local Ethics Committees. Currently, the platform counts 290 users (111 Principal Investigators, 175 Site Investigators, 2 Lead Investigators, and 2 data managers). The Registry collects baseline and follow-up data using 5993 fields organised into 16 instruments, including patient’s demographics, history, clinical manifestations and symptoms, trigger/risk factors, therapies and healthcare access. The development of the AIDA International Registry for BD patients will facilitate the collection of standardised data leading to real-world evidence, enabling international multicentre collaborative research through data sharing, international consultation, dissemination of knowledge, inclusion of patients and families, and ultimately optimisation of scientific efforts and implementation of standardised care.Trial registration NCT05200715 in 21/01/2022.

Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations ( P = .015) and speech disorders ( P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis. Conclusions Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.

Pulse wave velocity (PWV) is an independent predictor of cardiovascular (CV) risk. Higher PWV values have been observed in Africans; however, there are no established age- and gender-adjusted reference values for this population. Therefore, PWV was measured using a validated device (Complior SP) in 544 subjects recruited from an occupational cohort of employees of a public university in Angola. Since high blood pressure (BP) is an important factor influencing PWV, a subsample of 301 normotensive subjects (aged 22–72 years) was selected for this study. A subset of 131 individuals without CV risk factors was considered the healthy group (HG), while the entire group (n = 301) comprised the less healthy group (LHG). Predictors of PWV were evaluated using multiple regression analyses and age- and gender-specific percentile tables and curves were constructed. Age and PWV means were 36 ± 9.7 years and 6.6 ± 1.0 m/s in the HG, respectively, and 39.9 ± 10.2 years and 7.3 ± 1.3 m/s in the LHG. Age and plasma uric acid (UA) were the only significant PWV predictors in the HG, while age, mean BP (MBP), and gender showed significant prediction of PWV in the multiple regression analysis in the LHG. Age- and gender-adjusted reference values of PWV were provided for healthy and less healthy normotensive Africans. Considering the small sample size of our cohort, these preliminary results should be used cautiously until data on robust sample of the general population can be obtained.

OBJECTIVE: To investigate whether differences exist in the mechanical properties of large arteries between white and black subjects. DESIGN: Eighty-two white (49 normotensive and 33 untreated hypertensive) and 38 black (24 normotensive and 14 untreated hypertensive) adult male volunteers were studied in a cross-sectional study. METHODS: Carotid-femoral pulse wave velocity was measured as an index of arterial stiffness, using a recently developed non-invasive automatic device, and compared between white and black subjects before and after the adjustment for age. The slope of regressions for pulse wave velocity and systolic blood pressure were also compared between racial groups. RESULTS: In the normotensive group, white subjects presented higher mean values of pulse wave velocity than blacks while the opposite behavior was found in the hypertensive group. After adjustment for age, significant differences in pulse wave velocity between whites and blacks became evident in the normotensive (whites 8.15 +/- 0.04 versus blacks 7.75 +/- 0.02 m/s; P < 0.001) and hypertensive (whites 8.88 +/- 0.02 versus blacks 9.30 +/- 0.17 m/s; P < 0.001) groups. Linear regression analysis for age-adjusted pulse wave velocity and systolic blood pressure showed that the slope was significantly greater in blacks than in whites (0.040 +/- 0.002 versus 0.019 +/- 0.001 m/s; P < 0.001). CONCLUSION: These data indicate that there is a greater pressure-dependent increase in aortic stiffness in blacks than in whites. This finding points towards major differences in mechanical properties of large arteries between these racial groups.

Background Cardiovascular diseases are the leading cause of death in the majority of developed and developing countries. African countries are currently facing an increase in both cardiovascular and transmitted diseases. In addition, cardiovascular risk varies among different socioeconomic groups. Thus, we determined the prevalence of modifiable cardiovascular risk factors in apparently healthy public-sector workers and investigated possible relationships with socioeconomic status. Methods We employed a cross-sectional study comprising 42.2% (n = 615) of the public-sector workers at Agostinho Neto University, 48% (n = 294) male and 52% (n= 321) female, with ages between 20 and 72 years and from various socioeconomic groups. The study was conducted from February 2009 to December 2010. Personal, anthropometric, biochemical, hemodynamic, socioeconomic, and physical activity data were collected. Results The prevalence rates of cardiovascular risk factors were as follows: hypertension, 45.2% (men 46.3%, women 44.2%, P > 0.05); hypercholesterolemia, 11.1% (men 10.5%, women 11.5%, P > 0.05); low high-density lipoprotein (HDL) cholesterol, 50.1% (men 36.9%, women 62.3%; P < 0.05); hypertriglyceridemia, 10.6% (men 12.6%, women 8.7%, P > 0.05); smoking, 7.2% (men 10.2%, women 4.4%; P < 0.05); diabetes, 5.7% (men 5.5%, women 5.9%, P > 0.05); overweight, 29.3% (men 27.3%, women 31.2%, P > 0.05); obesity, 19.6% (men 9.2%, women 29.0%; P < 0.05); sedentary lifestyle, 87.2% (men 83.0%, women 91,0%, P < 0.05); and left ventricular hypertrophy, 20% (men 32.0%, women 9.0%; P < 0.05). At least one risk factor was present in 27.7% of the sample; 15.2% had two risk factors, and 31.4% had three or more risk factors. Among the individuals with low socioeconomic status, 41.0% had three or more risk factors. Conclusions The results of this study suggest the existence of a high prevalence of multiple risk factors for cardiovascular disease in apparently healthy public-sector workers in Angola. The workers in lower socioeconomic groups had higher incidences of hypertension, smoking, and left ventricular hypertrophy.

Background. Bernard-Soulier syndrome is a very rare form of inherited thrombocytopenia that derives from mutations in GPIb alpha, GPIb beta, or GPIX and is typically inherited as a recessive disease. However, some years ago it has been shown that the monoallelic c.515C>T transition in the GPIBA gene (Bolzano mutation) was responsible for macrothrombocytopenia in a few Italian patients. Design and Methods. In the past 10 years, we have searched for Bolzano mutation in all subjects referred to our institutions for an autosomal, dominant form of thrombocytopenia of unknown origin. Results. We identified 42 new Italian families (103 cases) with a thrombocytopenia induced by monoallelic Bolzano mutation. Analyses of the geographic origin of affected pedigrees and haplotypes indicated that this mutation originated in southern Italy. Although the clinical expressivity was variable, patients with this mutation typically had a mild form of Bernard-Soulier syndrome with a mild thrombocytopenia and bleeding tendency. The most indicative laboratory findings were an enlarged platelet size and reduced GPIb/IX/V platelet expression, although in vitro platelet aggregation was normal in nearly all of the cases. Conclusions. Our study indicates that monoallelic Bolzano mutation is the most frequent cause of inherited thrombocytopenia in Italy, affecting 20% of patients recruited at our institutions during the last 10 years. Because many people from southern Italy have emigrated during the last century, this mutation may have spread to other countries.