Adults with Down syndrome: a comprehensive approach to manage complexity.

BACKGROUND: Down syndrome (DS) is characterised by premature ageing that affects selected organ systems, and persons with this condition can present patterns of co-morbidities and deficits often observed in the older population without DS. However, information on the characteristics of adult persons with DS is limited. The objective of the study is to describe characteristics of adults with DS collected with a standardised, comprehensive assessment instrument. METHODS: Cross-sectional study. Four hundred thirty adults with DS (age range 18/75 years) from three countries (Italy, n = 95; USA, n = 175; and Canada, n = 160). A standardised assessment instrument (interRAI intellectual disability) was used to assess sample characteristics. RESULTS: Mean age ranged from 35.2 (standard deviation 12.0) years in the US sample to 48.8 (standard deviation 9.0) years in the Canadian sample. Most participants in the Italian and US sample were living in private homes, while more than half of those in the Canadian sample were institutionalised. Prevalences of geriatric conditions, including cognitive deficits, disability in the common activities of daily living, symptoms of withdrawal or anhedonia, aggressive behaviour, communication problems, falls and hearing problems were high in the study sample. Gastrointestinal symptoms, skin and dental problems and obesity were also frequently observed. CONCLUSIONS: Adults with DS present with a high level of complexity, which may suggest the need for an approach based on a comprehensive assessment and management that can provide adequate care. Further research is needed to understand better the effectiveness of such an approach in the DS population.

Bone mineral density in adults with Down syndrome.

This study analyzed data of bone mineral density (BMD) from a large cohort of adults with Down syndrome (DS). BMD was found to decrease with age more rapidly in these subjects than in the general population, exposing adults with DS to an increased risk of osteoporosis and bone fracture. INTRODUCTION: Down syndrome (DS) in adulthood presents with a high prevalence of osteoporosis. However, in DS, bone mineral density (BMD) can be underestimated due to short stature. Furthermore, the rate of age-related decline in BMD and its association with gender in DS has been rarely evaluated or compared with the general population. The present study is aimed at assessing the variation of BMD with age and gender in a sample of adults with DS and to compare these data with those of the general population, after adjusting for anthropometric differences. METHODS: Adults with DS, aged 18 or older, were assessed dual-energy-X-ray-absorptiometry (DXA) at the femoral neck and at the lumbar spine. They were compared with the general population enrolled in the National Health and Nutrition Examination Survey (NHANES) 2009-2010 dataset. Bone mineral apparent density (BMAD) was calculated for each individual. RESULTS: DXA was evaluated in 234 subjects with DS (mean age 36.93 ± 11.83 years, ranging from 20 to 69 years; 50.4% females). In the lumbar spine both mean BMD (DS 0.880 ± 0.141 vs. NHANES 1.062 ± 0.167, p < 0.001) and BMAD (DS 0.138 ± 0.020 vs. NHANES 0.152 ± 0.020, p < 0.001) were significantly lower in the DS sample than in the NAHNES cohort. The same trend was observed at the femoral neck in both BMD (DS 0.658 ± 0.128 vs. NHANES 0.835 ± 0.137, p < 0.001) and BMAD (DS 0.151 ± 0.030 vs. NHANES 0.159 ± 0.028, p<0.001). Age was associated with lower femoral neck BMAD in both samples; importantly, this association was significantly stronger in the DS sample. In the lumbar spine region, no significant association between BMAD and age could be observed in both samples. CONCLUSIONS: Adults with DS have lower bone mineral density compared to the general population and they experience a steeper decline with age. Early screening programs are needed in DS population.

Open treatment of extent IV thoracoabdominal aortic aneurysms.

AIM: Extent IV thoracoabdominal aortic aneurysm (TAAA) open repair is considered relatively safer to repair than other extents of TAAA in terms of both perioperative mortality and spinal cord ischemia. Our purpose is to report our experience and to perform a literature review regarding extent IV TAAA open repair in order to provide an updated benchmark for comparison with any other alternative strategy in this aortic segment. METHODS: From 1993 to 2015 we performed 736 open repairs for TAAA (177 extent I, 196 extent II, 141 extent III, 222 extent IV). In extent IV group there were 164 men (73.9%) and the mean age was 67.4±9.3 years (range 32-84). The aneurysm etiology was degenerative in 198 patients (95.6%). Twelve patients (5.4%) underwent emergent operation. Totally abdominal approach was used in 22.0% of the cases. Until 2006 left heart bypass (LHBP) and cerebrospinal fluid drainage (CSFD) were almost never performed during extent IV repair. Since 2006 we changed our approach with a more aggressive use of LHBP (22.9%) and CSFD (43.4%) in 83 consecutive extent IV. Renal arteries perfusion was performed with 4 °C Ringer's solution until 2009 and with 4 °C Custodiol solution since September 2009 to date. Literature search was performed on several databases (PubMed, BioMedCentral, Embase, and the Cochrane Central Register of clinical trials). Research was updated on March 1th 2015. RESULTS: Perioperative mortality in our overall group of TAAA and in the extents IV was 10.7% and 4.9%, respectively (P=0.01); spinal cord ischemia rate 11.4% and 2.7%, respectively (P=0.0001). In the extents IV treated between 2006 and 2015 we observed a further trend of outcomes improvement with a rate of perioperative mortality and spinal cord ischemia of 1.2%, and 2.4%, respectively. Database searches yielded a total of 767 articles. Excluding non-pertinent titles or abstracts, we retrieved in complete form and assessed 27 studies according to the selection criteria. Nine studies were further excluded because of our prespecified exclusion criteria. The final 18 manuscripts included a total of 2098 patients. In this group median mortality rate was 4.8% (interquartile range 3-6) and the mean incidence of spinal cord ischemia was 1.56±1.54%. CONCLUSION: Perioperative outcomes after extent IV TAAA open repair were significantly better compared to our overall TAAA series. A more aggressive use of CSFD, LHBP and renal perfusion with Custodiol solution allowed a further trend of outcomes improvement in our series of extent IV TAAA open repair. Literature analysis confirmed during extent IV open repair very satisfactory perioperative outcomes with rates of mortality and spinal cord ischemia dropped to under 5% and 2%, respectively.

Clinical use of extra-large self-expanding stents.

The aim of this study is to describe our clinical experience with an extra-large self-expandable stent specifically designed to treat aortic lesions (E-XL, Jotec GmbH, Hechingen, Germany), now commercially available in Europe. The E-XL was used at our Institution in 14 patients (mean age, 56±12 years; 9 males) with the following indications: improve proximal fixation (4 cases), type I endoleak (2 cases), aortic dissection with static malperfusion (1 case) and dynamic malperfusion (7 cases). Early results have been shown to be safe and effective in different clinical settings, including in emergency cases. This peculiar aortic stent could be useful in the armamentarium of the endovascular surgeon.

The Bolton Treovance endograft: single center experience.

AIM: In the last two decades, results of endovascular aortic repair (EVAR) for the treatment of infrarenal abdominal aortic aneurysms (AAAs) have significantly improved thanks to the evolution of stent-grafts and endovascular delivery systems. However, further development is still needed to reduce the incidence of complications and secondary reinterventions. We present our initial experience with the Treovance abdominal aortic stent-graft (Bolton Medical, Barcelona, Spain), a new-generation trimodular endovascular device, developed to increase flexibility, lower profile, improve deployment and sealing mechanisms. METHODS: We treated 8 patients with anatomically suitable non-ruptured AAA. RESULTS: Primary technical success was obtained in all patients, and no 30-day device-related complications nor deaths were reported. One patient experienced graft limb occlusion at 3 months, and underwent surgical conversion. At 1-year follow-up (completed in 6 patients), no device-related complications nor type I or III endoleak were observed. CONCLUSION: Initial personal experience with the Treovance abdominal stent-graft was satisfactory with regard to technical success and short-term clinical results. This new-generation endovascular device performed well even in angulated or heavily calcified anatomies.

On-label use of commercially-available abdominal endografts for para-anastomotic aneurysms and pseudoaneurysms after infrarenal abdominal aortic aneurysm open repair.

OBJECTIVES: To analyze feasibility and outcomes of endovascular aortic repair (EVAR) with a strictly on-label use of abdominal aortic endografts (OnL-EVAR) to treat para-anastomotic aneurysms (PAAs) and pseudoaneurysms (PSAs) after infrarenal abdominal aortic aneurysm open repair (OR). METHODS: The data of all consecutive patients treated between 1999 and 2012 for non-infected abdominal PAAs and PSAs at our center were prospectively collected. All cases fit for EVAR based on the instructions for use of a series of abdominal aortic endografts commercially available during the study period were scheduled for OnL-EVAR regardless of patients' surgical risk. Any patients unfit for OnL-EVAR underwent OR or other complex endovascular techniques. RESULTS: One hundred and forty-three patients were collected; 78 underwent OR and 65 endovascular repair with different strategies. Coil embolization, hybrid, and chimney/periscope grafts techniques were limited to seven patients unfit both for OR and OnL-EVAR. Inclusion criteria for OnL-EVAR were reached in 58 patients for an overall OnL-EVAR feasibility of approximately 40% (21% for PAAs and 55% for PSAs). In particular, OnL-EVAR feasibility was 19% in case of involvement of proximal aortic anastomosis, 71% for distal aortic anastomosis, and 80% for iliac arteries. Overall, 25 aortouniiliac and 11 bifurcated implants were performed, single proximal aortic cuffs were used in 10 patients, and iliac extension in 12. Primary technical success was 98% without perioperative mortality. At a median follow-up of 67 months (range: 1-144 months), cumulative aneurysm-related mortality was 7%, endograft migration 7%, and reintervention was 17%. Life-table analysis showed actuarial survival and freedom from aneurysm-related death at 1, 3, and 5 years of 100%, 98%, and 95%, and of 100%, 98%, and 95%, respectively. Freedom from aortic reintervention or open conversion at 1, 3, and 5 years was 94%, 90%, and 85%. CONCLUSIONS: Feasibility of OnL-EVAR was limited for PAAs and PSAs, with a rate that was lower than 20% in case of involvement of proximal aortic anastomosis. Aortouniiliac configuration was the most commonly feasible implant and, despite strict on-label use of abdominal devices, the rate of late complications and reinterventions was high.

Open repair for juxtarenal aortic aneurysms.

Abdominal aortic aneurysms (AAAs) are classified as juxtarenal if their proximal extent is next to the origin of the renal arteries but does not involve them. An AAA is suprarenal if it extends above at least one renal artery and ends below the celiac axis. Juxtarenal AAAs need inter-renal or suprarenal clamping, with the aortic reconstruction usually made at the infrarenal level. Aneurysms requiring suprarenal clamping, often supraceliac, and the reconstruction (direct attachment or bypass) of at least one renal artery, are often defined as suprarenal AAAs. Endovascular aortic repair (EVAR) is feasible in most of cases of infrarenal AAAs and has been shown to be as effective as open repair (OR) in reducing aneurysm-related mortality and perioperative mortality with shorter length of stay. However, the feasibility of standard EVAR with an on-label use of commercially available devices is limited in the juxtarenal aorta. In our series, approximately, 20% to 30% of patients with an AAA are considered not eligible for standard EVAR owing to their anatomy, and in the most of the cases are patients with juxtarenal AAAs. Fenestrated and branched endografts and newer "off the shelf" techniques (such as chimney, periscope, sandwich) have been recently described, all with the purpose of widening the therapeutic range of EVAR to the treatment of aneurysms with involvement of renal and visceral arteries. However, safety, efficacy, long-term results, and cost-effectiveness of these expensive techniques have still to be carefully assessed. For these reasons, the OR is currently still considered the gold standard for treatment of juxtarenal AAAs, reserving endovascular strategies mainly for high-risk patients having comorbidities or other contraindications for conventional repair. If compared to open repair of infrarenal AAAs, juxtarenal AAA OR is technically more complex and might require specific organ-protection strategies in order to minimize ischemia-reperfusion injury to kidneys and visceral organs. Because of the complexity of the surgical procedure and of the multiple clinical problems, an optimal operative strategy for the treatment of juxtarenal AAAs has not been established yet. The choice of the surgical access, clamping level, methods of organ protection and their impact on renal, respiratiry, cardiac and gastrointestinal morbidity are still debated issues.

Delayed open conversion after endovascular abdominal aortic aneurysm: device-specific surgical approach.

OBJECTIVES: Despite several advances in endoluminal salvage for failed endovascular abdominal aortic repair (EVAR), in our experience an increasing number of cases necessitate delayed open conversion (dOC). METHODS: EVAR patients requiring delayed (>30 days) conversion were prospectively collected in a computerized database including demographics, details of aortoiliac anatomy, procedural and clinical success, and postoperative complications. RESULTS: Between 2005 and 2011, 54 patients were treated for aortic stent-graft explantation. Indications included 34 type I and III endoleaks, 13 type II endoleaks with aneurysm growth, 4 cases of material failures, and 3 stent-graft infections. All fit-for-surgery patients with type I/III endoleak underwent directly dOC. Different surgical approaches were used depending on the type of stent-graft. Overall 30-day mortality was 1.9%. Overall morbidity was 31% mainly due to acute renal failure (13 cases). Mean hospitalization was 6 days (range, 5-27 days). Overall survival at mean follow-up of 19 months was 78%. CONCLUSIONS: In recent years, the use of EVAR has increased dramatically, including in young patients regardless of their fitness for open repair. dOC after endovascular abdominal aortic aneurysm seems to be a lifesaving procedure with satisfactory initial and mid-term results.

Aseptic polyurethane carotid patch rejection: complication, allergy or miraculous healing?

Carotid endarterectomy plays an important role in the prevention of ischemic stroke; patching could reduce the risk of intra- and postoperative complications and late restenosis among primary closure. Materials actually available for the patch tailoring are synthetic or biological: which is the best is still debated. We present the case of a polyurethane (PU) carotid patch rejection three years after its implant, with no evident arterial discontinuity and no sign of infection. Histopathological analysis on hematoxylin-eosin stained sections of the regenerated arterial wall tissue removed revealed plasma cell infiltration and clusters of foreign body giant cells. PU patch rejection has been seldom described in literature. This is an unusual late complication that should be considered at long-term follow-up evaluation of these patients.

[The defecation balloon proctogram in the study of idiopathic incontinence]. / Il proctogramma defecatorio con pallone nello studio della incontinenza idiopatica.

The authors report their findings in the study of idiopathic rectal incontinence using a defecatory balloon proctogram. The study provides a detailed anatomico-functional analysis of the sphincteric tract and, together with manometric and electromyographic studies, is useful in assessing the need for reconstructive surgery and for monitoring the results of ileoanal and coloanal anastomoses, sphincteric plastic surgery and posterior anal plastic surgery.

[Causes and methods of re-operation in a patient with a jejuno-ileal bypass for obesity]. / Cause e modalità del reintervento in un paziente portatore di by-pass digiuno-ileale per obesità.

One case of re-operation in a patient who previously underwent a jejunoileal by-pass for obesity is described. The serious complications following first surgery are shown. Reasons for re-operation and special pre- and post-operative care are considered.