Outcome Analysis From a Multicenter Registry on Unibody Stent-Graft System for the Treatment of Spontaneous Infrarenal Acute Aortic Syndrome (MURUSSIAS Registry).

Purpose: This study reports the outcomes from a Multicenter Registry on unibody stent-graft system for the treatment of spontaneous infrarenal acute aortic syndrome (MURUSSIAS registry).

Materials And Methods: The retrospective MURUSSIAS registry included spontaneous infrarenal acute aortic dissection (IAAS) managed with the unibody stent-graft system (AFX endovascular AAA system; Endologix Inc., Irvine, California) outside the current instruction for use.

A Case of Late Type Ia Endoleak After Endovascular Aneurysm Sealing Using the Nellix System: Proximal Extension with Triple Chimney and Gutter Endoleak Embolization.

An 87-year-old man, who submitted to endovascular aneurysm sealing (EVAS) on 2017, presented a type Ia endoleak 2 years later, with enlargement of the aneurysmal sac. We planned an endovascular procedure of correction consisting of a proximal extension through two covered stent grafts deployed into the previous Nellix stent grafts, with associated triple chimney. However, 3 months later, he had a further 5 mm aneurysmal sac enlargement.

A Case of Multilevel Aortic Disease Treated Using Cardiatis Multilayer Flow Modulator.

A recent systematic review and meta-analysis shows that synchronous and metachronous thoracic and abdominal aortic aneurysms are present in 19.2% of cases. The management remains controversial: elective simultaneous TEVAR and EVAR could increase morbidity due to increased aortic coverage during a single procedure, longer operative times, increased blood loss, and greater contrast exposure.

The role of cord blood platelet gel in the management of a diabetic foot with tendon exposure.

Diabetic foot infection is frequent in diabetic patients and is due to neuropathy, trauma or peripheral arterial disease. The presence of an abscess requires urgent drainage and specific antibiotic therapy. Patients with critical limb ischemia need revascularization and, subsequently the intervention of a plastic surgeon is often required in cases of exposure of tendons and ligaments.

Stent-Graft Relining Using the Altura Endograft for Type Ia and IIIb Endoleaks after Kissing Iliac Arteries Stent.

A 79 years old man, affected by serious comorbidities, occurred to the Emergency Room of our Hospital complaining abdominal pain. He was previously submitted to kissing iliac arteries stent for iliac aneurysms. An urgent CT scan showed a type Ia and a type IIIb endoleaks with left common iliac artery enlargement, occlusion of both hypogastric arteries and inferior mesenteric artery, and a severe stenosis of the right iliac external artery.

Use of cord blood platelet gel to enhance healing of deep surgical site dehiscences after peripheral bypass.

Surgical site dehiscence after lower limb revascularization through bypass represents a serious postoperative complication, especially in diabetic and obese patients, with subsequent risk of early graft failure, infection, sepsis, hemorrhage, major amputation and sometimes death. To prevent bypass exposure and subsequent complications, physicians recur to reoperation, antibiotic therapy, advanced dressing and vacuum-assisted closure therapy. To improve the process of wound healing, cord blood platelet gel can be used to fill deep and large wounds.

Early and mid-term results of endovascular treatment of thoracic aorta diseases: a single-center experience.

We conducted an analysis to assess early and mid-term outcomes of patients after thoracic endovascular aortic repair (TEVAR) for type B thoracic aorta dissection, descending thoracic aneurysm, or traumatic aortic transection. From January 2016 through December 2018, twenty-seven patients (23 male, 4 female, mean age of 57 years) affected by type B dissection (n = 13 [48.2%]), thoracic aneurysm (n = 9 [33.

Endovascular Treatment of Juxtarenal Abdominal Aortic Aneurysms Recurring to the "Vent Technique".

Background: Juxtarenal abdominal aortic aneurysms represent 15-20% of all abdominal aortic aneurysms (AAAs). The gold standard of treatment is represented by open surgical repair (OSR). Patients judged unfit for OSR could be submitted to fenestrated endovascular aortic repair (FEVAR) or the chimney technique.

Successfully Kissing Stent of Innominate Artery and Left Common Carotid Artery Subsequent to Blunt Injury, in the Setting of a Bovine Aortic Arch.

Blunt injuries of the great vessels arising from the aortic arch are usually fatal. The innominate artery lesions represent the most common site of injury after the aortic isthmus distal to the left subclavian artery. Injuries are usually located at the origin of the vessel from the aortic arch, especially in patients with bovine aortic arch.

Efficacy of cord blood platelet gel application for enhancing diabetic foot ulcer healing after lower limb revascularization.

The efficacy of umbilical cord blood platelet gel (CBPG) application on healing foot ulcers was analyzed in 10 diabetic patients treated for critical lower limb ischemia by surgical or endovascular arterial revascularization. During a 9-month period, 20 diabetic patients affected by critical lower limb ischemia with tissue loss were enrolled in this nonblinded, consecutive series, randomized clinical trial. After clinical evaluation, patients underwent endovascular or surgical revascularization of the affected limb, followed by minor amputations or surgical debridement of ischemic lesions.

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.

Objective: Cut homeodomain transcription factor CUX2 plays an important role in dendrite branching, spine development, and synapse formation in layer II to III neurons of the cerebral cortex. We identify a recurrent de novo CUX2 p.Glu590Lys as a novel genetic cause for developmental and epileptic encephalopathy (DEE).

Percutaneous drug-eluting balloon angioplasty to treat dialysis access stenosis.

A common complication of arteriovenous fistula for hemodialysis is development of conduit stenosis, which compromises function and can result in access thrombosis. Possible treatment options include open repair and endovascular therapy, with the latter preferred due to lower morbidity and similar outcomes. Recurrence of conduit stenosis is common and, based on the pathophysiology of this lesion, the application of drug-coated balloon angioplasty is attractive.

Symptomatic superior vena cava syndrome in hemodialysis patients: mid-term results of primary stenting.

This clinical report details the results of endovascular treatment of symptomatic superior vena cava syndrome due to central vein stenosis or obstruction (CVSO) by stent angioplasty in patients with dialysis-dependent end-stage renal disease. A 3-year retrospective review of two institutional registries identified 25 chronic hemodialysis patients (17 men, 8 women) affected by CVSO who received endovascular treatment. The majority of the patients (n = 19) presented with symptomatic arm, breast, and facial swelling; and 6 patients presented with dialysis-access dysfunction and venous-line hypertension.

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Although de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter. We identified the properties of de novo missense mutations in patients with neurodevelopmental disorders (NDDs) and highlight 35 genes with excess missense mutations. Additionally, 40 amino acid sites were recurrently mutated in 36 genes, and targeted sequencing of 20 sites in 17,688 patients with NDD identified 21 new patients with identical missense mutations.

Preliminary Results of Aorfix™ Stent Graft to Treat Infrarenal Abdominal Aortic Aneurysms with Severe Proximal Aortic Neck Angulation.

Background: We report a preliminary experience about endovascular aortic repair (EVAR) of infrarenal abdominal aortic aneurysm (iAAA) with severe proximal aortic neck angulation (NA) using the Aorfix™ stent graft.

Methods: Data of consecutive patients with iAAA with severe proximal NA submitted to endovascular repair between September 2012 and December 2014 in 2 Italian centers of Vascular and Endovascular Surgery were retrospectively reviewed, and outcomes were analyzed using the software JMP 5.1.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.

An Hybrid 2-Stage Technique to Treat a Post-Traumatic Internal Carotid-Jugular Fistula.

Penetrating wounds of the neck involving the carotid arteries can lead to 2 possible and important late sequelae: pseudoaneurysm formation and arteriovenous fistula (AVF), if an artery and the adjacent jugular vein are simultaneously lacerated. Traumatic AVF of the neck are rare complications and if untreated may cause congestive heart failure, cerebral ischemia, thromboembolism, or even rupture complications. Current treatment options for carotid-jugular AVF include operative repair, detachable balloon, coiling, or stenting.

An Uncommon Case of Type III Endoleak Treated with a Custom-made Thoracic Stent Graft.

Endovascular aortic repair (EVAR) has been shown to be a valid and minimally invasive alternative to open abdominal aortic aneurysm repair. A major shortcoming for EVAR is the need to submit patients to regular follow-up to detect potential complications such as endoleak, limb occlusion, aneurysm expansion, aneurysm rupture, infection, structural failure, and migration. In this case report, we describe an uncommon case of late type III endoleak due to complete detachment of the stent-graft main body segment from its suprarenal uncovered fixation stent.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically heterogeneous, and a significant number of genes have been associated with both conditions. A few mutations in POGZ have been reported in recent exome studies; however, these studies do not provide detailed clinical information. We collected the clinical and molecular data of 25 individuals with disruptive mutations in POGZ by diagnostic whole-exome, whole-genome, or targeted sequencing of 5,223 individuals with neurodevelopmental disorders (ID primarily) or by targeted resequencing of this locus in 12,041 individuals with ASD and/or ID.

Old and New Techniques as a Safe Hybrid Approach for Carotid Tandem Lesions.

Background: Carotid revascularization is performed to prevent stroke. Carotid tandem lesions represent a challenge for treatment, and a hybrid approach may result effective.

Case Report: A high-risk 65-year-old woman presented with a "tandem lesion" of left common and internal carotid artery.

The role of procalcitonin as a marker of diabetic foot ulcer infection.

Foot ulcers are frequent in diabetic patients and are responsible for 85% of amputations, especially in the presence of infection. The diagnosis of diabetic foot ulcer infection is essentially based on clinical evaluation, but laboratory parameters such as erythrocyte sedimentation rate (ESR), white blood count (WBC), C-reactive protein (CRP) and, more recently, procalcitonin (PCT) could aid the diagnosis, especially when clinical signs are misleading. Fifteen diabetic patients with infected foot ulcers were admitted to our department and were compared with an additional group of patients with non-infected diabetic foot ulcers (NIDFUs).

Recurrent duplications of 17q12 associated with variable phenotypes.

The ability to identify the clinical nature of the recurrent duplication of chromosome 17q12 has been limited by its rarity and the diverse range of phenotypes associated with this genomic change. In order to further define the clinical features of affected patients, detailed clinical information was collected in the largest series to date (30 patients and 2 of their siblings) through a multi-institutional collaborative effort. The majority of patients presented with developmental delays varying from mild to severe.

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Copy number variants (CNVs) are associated with many neurocognitive disorders; however, these events are typically large, and the underlying causative genes are unclear. We created an expanded CNV morbidity map from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs. We resequenced 26 candidate genes in 4,716 additional cases with developmental delay or autism and 2,193 controls.

Disruptive CHD8 mutations define a subtype of autism early in development.

Autism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define subtypes behaviorally have met with limited success. Hypothesizing that genetically based subtype identification may prove more productive, we resequenced the ASD-associated gene CHD8 in 3,730 children with developmental delay or ASD. We identified a total of 15 independent mutations; no truncating events were identified in 8,792 controls, including 2,289 unaffected siblings.

Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.

Typical Xq25 duplications are large and associated with heterogeneous phenotypes. Recently, small duplications involving this genomic region and encompassing the GRIA3 and STAG2 genes have been reported. These Xq25 microduplications are associated with a recognizable syndrome including intellectual disability and distinctive facial appearance.