Background
Sickle cell disease (SCD) is a chronic multisystem disorder requiring comprehensive care that includes newborn screening (NBS) as the first step of care. Italy still lacks a national SCD NBS program and policy on blood disorders. Pilot single‐center screening programs and a regional targeted screening have been implemented so far, but more evidence is needed in order to impact health policies.
Population and methods
NBS was offered to parents of newborns in gynecology clinics in Padova and Monza, tertiary care university hospitals in northern Italy. High‐performance liquid chromatography (HPLC) was performed as the first test on samples collected on Guthrie cards. Molecular analysis of the beta‐globin gene was performed on positive samples.
Results
A total of 5466 newborns were enrolled; for 5439, informed consents were obtained. A similar family origin was seen in the two centers (65% Italians, 9% mixed couples, 26% immigrants). Compared with SCD NBS programs in the United States and Europe, our results show a similar incidence of SCD patients and carriers. All SCD patients had a Sub‐Saharan family background; HbS carriers were 15% Caucasians (Italian, Albanians) and 10% from other areas (North Africa–India–South America); carriers of other hemoglobin variants were mainly (47%) from other areas.
Conclusions
Our results demonstrate the feasibility of a multicentric NBS program for SCD, give information on HbS epidemiology in two Northern Italian Areas, and support previous European recommendation for a universal NBS program for SCD in Italy: a high incidence of patients and carriers has been detected, with a high percentage of Caucasian carriers, impossible to identify in a targeted NBS.
A multicenter pilot program for universal newborn screening of Sickle cell disease (SCD) was conducted in two centres of Northern Italy (Padova and Monza). High Performance Liquid Chromatography (HPLC) was performed as the first test on samples collected on Guthrie cards and molecular analysis of the β-globin gene (HBB) was the confirmatory test performed on the HPLC-positive or indeterminate samples. 5466 samples of newborns were evaluated. Of these, 5439/5466 were submitted to HPLC analysis and the molecular analysis always confirmed in all the alteration detected in HPLC (62/5439 newborns); 4/5439 (0.07%) were SCD affected, 37/5439 (0.68%) were HbAS carriers and 21/5439 (0.40%) showed other hemoglobinopathies. Stored dried blood spots were adequate for HPLC and β-globin gene molecular analysis. Samples were suitable for analysis until sixteen months old. A cut-off of A1 percentage, in order to avoid false negative or unnecessary confirmation tests, was identified. Our experience showed that several technical issues need to be addressed and resolved while developing a multicenter NBS program for SCD in a country where there is no national neonatal screening (NBS) program for SCD and NBS programs occur on a regional basis.
Background: Endovascular abdominal aortic aneurysm repair (EVAR) is considered the primary option for abdominal aortic aneurysm but the management of concomitant wide or aneurysmal iliac arteries (CIAs) is still controversial. Methods: We retrospectively evaluated mid-term results of patients receiving standard EVAR combined with bellbottom technique (BBT) using Medtronic Endurant endograft between January 2009 and December 2018. Patients were followed up by CT scan performed 1 month after the procedure and by duplex ultrasound annually (with or without contrast medium) followed by CT scan in case of evolution. Results: Seventy-one patients (67 males; mean age of 77,1 years) with abdominal aortic aneurysm and wide or aneurysmal common iliac artery (distal landing zone diameter up to 25 mm and length more than 20 mm) were treated with standard EVAR and BBT (107 limbs) using Endurant stent graft. The median aortic diameter was 56, 1 mm (31.0-85.0). Technical success was obtained in 100%. Mean procedural time was of 100.1 min. No 30 days' mortality, renal failure or limb ischaemia occurred. The median follow-up was of 36.56 months (1-136). 5-year aneurysm related mortality was not found. At 5 years, the number of all-cause deaths was seven. The freedom from secondary intervention was 91.6% at 5 years. Three patients (4.4%) were treated for iliac related complications at 5 years: internal iliac artery aneurysm, iliac obstruction, type 1b endoleak, all successfully treated by endovascular technique. Conclusions: According with this study BBT using Endurant stent graft is effective and safe with good mid-term results, with low rate of iliac related complications and no aneurysm related mortality.
Introduction: A 90-year-old patient was admitted with a hemorrhagic shock from a huge ruptured abdominal aortic aneurysm with an unfavourable infrarenal aortic neck and a horseshoe kidney (HSK). Report: We decided on an open surgical approach: the HSK isthmus was sectioned with an Endo GIA 45 mm, and we performed a suprarenal aortic cross-clamping and an aortic graft reconstruction. Postoperatively, no urinary leakage was detected, and renal function showed no impairment. The patient died on the 10th postoperative day from pneumonia. Conclusion: We believe that the sectioning of the HSK isthmus with Endo GIA is a fast and simple maneouvre.
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