A multicentric experience with open surgical repair and endovascular exclusion of popliteal artery aneurysms.

INTRODUCTION: The aim of this study was to analyse early and follow-up results of the treatment of popliteal artery aneurysms (PAAs) performed with open surgical repair or with endovascular exclusion with endografts in a multicentric retrospective registry involving seven Italian vascular centres. MATERIALS AND METHODS: We retrospectively collected data concerning 178 open surgical interventions (OR group) and 134 endovascular exclusions (ER group) for PAAs performed between January 2000 and December 2011. Early and follow-up results were analysed in terms of mortality, graft patency, reintervention and limb preservation. RESULTS: OR patients were more frequently symptomatic (64%, 115 cases) than patients in the ER group (34%, 51 cases; p < 0.001), had more frequently acute limb ischaemia (23% and 6.5%, respectively; p < 0.001) and had more frequently a run-off score <2 (39% and 26%, respectively, p = 0.03). In the OR group there were no perioperative deaths; six thromboses (3.3%) and one amputation occurred. In the ER group mortality was 1.5%; 13 thromboses (9.7%) and one amputation (0.5%) occurred. Mean duration of follow-up was 30.6 ± 27.5 months. In the OR group primary and secondary patency, freedom from reintervention and limb preservation rates at 48 months were 63.5% (standard error (SE) 0.05), 76.5% (SE 0.05), 72.5% (SE 0.06) and 89.7% (SE 0.05), respectively. The corresponding figures in the ER group were 73.4% (SE 0.04), 85% (SE 0.04), 75% (SE 0.04) and 97% (SE 0.04), respectively. CONCLUSIONS: In this large multicentric retrospective registry, open and endovascular treatment of PAAs are used in different patients with regard to clinical and anatomical characteristics. Both treatments are feasible and safe, providing satisfactory early and long-term results.

Rett syndrome: a wide clinical and autonomic picture.

BACKGROUND: Rett Syndrome is a neurodevelopmental disorder almost exclusively affecting females, characterized by a broad clinical spectrum of signs and symptoms and a peculiar course. The disease affects different body systems: nervous, muscolo-skeletal, gastro-enteric. Moreover, part of the symptoms are related to the involvement of the autonomic nervous system. In the Tuscany Rett Center at Versilia Hospital, we collected data from 151 subjects with a clinical diagnosis of classical or variant RTT syndrome. For each subject, we assessed the severity of the condition with clinical-rating scales (ISS, PBZ), we quantified the performance of the autonomic nervous system, and we performed genetic analysis. We used multivariate statistical analysis of the data to evaluate the relation between the different clinical RTT forms, the cardiorespiratory phenotype, the different genetic mutations and the severity of the clinical picture. Individuals were classified according to existing forms: Classical RTT and three atypical RTT: Z-RTT, Hanefeld, Congenital. A correlation between C-Terminal deletions and lower severity of the clinical manifestations was evident, in the previous literature, but, considering the analysis of autonomic behaviour, the original classification can be enriched with a more accurate subdivision of Rett subgroups, which may be useful for early diagnosis. RESULTS: Present data emphasize some differences, not entirely described in the literature, among RTT variants. In our cohort the Z-RTT variant cases show clinical features (communication, growth, epilepsy and development), well documented by specific ISS items, less severe, if compared to classical RTT and show autonomic disorders, previously not reported in the literature. In this form epilepsy is rarely present. In contrast, Hanefeld variant shows the constant presence of epilepsy which has an earlier onset In Hanefeld variant the frequency of apneas was rare and, among the cardiorespiratory phenotypes, the feeble type is lacking. CONCLUSION: A quantitative analysis of the different autonomic components reveals differences across typical and atypical forms of RTT that leads to a more accurate classification of the groups. In our cohort of RTT individuals, the inclusion of autonomic parameter in the classification leads to an improved diagnosis at earlier stages of development.

A possible sequela of transoral approach to the upper cervical spine. Velopharyngeal incompetence.

The authors describe a case of velopharyngeal incompetence (VPI), as a consequence to the neurosurgical treatment for a complex malformation of the cranio-spinal junction. A 61-year-old woman underwent a transoral-transvelar surgical approach for odontoid resection. One month later surgical fixation of the posterior spine with autologous iliac bone graft was performed. Following these operations the patient presented a marked alteration of speech intellegibility due to hypernasal voice resonance and through incapability to articulate the oral phonemes correctly. She also complained of nasal regurgitation of fluids and solids while swallowing. She underwent a clinical phoniatric assessment of voice and speech. Videonasopharyngoscopy allowed us to inspect the velopharyngeal sphincter and to show clearly the type and morphology of its closure defect. Correction of VPI was achieved by means of a velopharyngoplasty (pharyngeal flap), in spite of technical difficulties due to local scarring and to a problematic exposure of the surgical field.

Hepatic artery aneurysm: an ever present danger.

Hepatic artery aneurysms are infrequent vascular lesions, difficult to diagnose preoperatively manifesting themselves usually by acute rupture. We report our experience in both diagnosis and surgical treatment of 3 cases. The selective angiograph of the celiac tripod and of superior mesenteric artery, is an indispensable means able, not only to put forward a certain diagnosis, but also to supply precious notions on the possibilities of compensation on the side of the collateral circle and of consequence, to suggest operative tactics. Surgical management may range from the simple binding to the reconstruction of the hepatic arterial axis by means of prosthesis grafts and if possible to the simple excision and termino-terminal regraft.

[Palliative embolic treatment of synchronous bilateral renal carcinoma with metastasis]. / Trattamento embolizzante palliativo nel carcinoma renale bilaterale sincrono con metastasi.

The paper reports the use of embolic treatment in a case of synchronous bilateral renal carcinoma with caval thrombosis extending to the right atrium. Embolic treatment was also used for a large metastatic mass in the right iliac wing. The problems associated to palliative embolic treatment are discussed together with the relative histopathological aspects and the use of intrarterial IFN.

[Radiological signs of a disease that is dying out: hepato-splenic atrophy and cholangiocarcinoma after administration of thorium dioxide (Thorotrast)]. / Segni radiologici di una patologia in via di estinzione: atrofia-epato-splenica e colangiocarcinoma dopo somministrazione di diossido di torio (Thorotrast).

The cases of two patients with radio-opaque residues of contrast medium (Thorotrast) in the abdomen, at the level of the liver, the spleen and certain lymph node groups of the hepatic hilum and the pancreas are reported. In one of the two patients (both of whom had undergone examination with this contrast medium in the '40s) necropsy showed the existence of cholangiocarcinoma. It is therefore considered useful to recall the X-ray signs typical of this pathology, which is dying out after the abandonment of thorium dioxide as an X-ray contrast medium.

[Considerations on a rare case of C.R.E.S.T. syndrome]. / Considerazioni su un raro caso di sindrome C.R.E.S.T.

A rare case of C.R.E.S.T. syndrome with evident pulmonary interstitial fibrosis is presented.

[The use of automatic injectors in hysterosalpingography]. / L'uso di iniettore automatico in corso di isterosalpingografia.

The paper describes 168 cases of HSP in which a low-pressure automatic injector, as is normally used in angiography, was used to inject the contrast medium and controlled from the booth of a remote-control X-ray device. Having analysed the clinical indications for this X-ray method, the paper stresses the advantages for the patient, in the form of a lower dose of irradiation and a shorter duration of the test in comparison to traditional methods of manual injection of the contrast medium, and for the operator who is completely protected from irradiation.

[Consumption coagulopathy associated with a case of an abdominal aortic aneurysm]. / Coagulopatia da consumo in associazione con un caso di aneurisma dell'aorta addominale.

Consumption coagulopathy with clinical symptoms reveals aortic arterial aneurysms in less than 5% of cases. The authors report a case of abdominal aortic aneurysm: surgical repair is able to remove the hemostasis abnormalities for a long time. Implications of the consumption coagulopathy are analyzed: diagnosis, preoperative correction of the coagulopathy, surgical technique.

[Pseudo-occlusions of the internal carotid artery]. / Le pseudo-occlusioni della carotide interna.

The pseudo-occlusion (P.O.) of the internal carotid artery is defined as an atheromatous lesion causing a high-grade stenosis, which describes a peculiar angiographic finding ("string sing" or "slim sign"). The authors report their experience with 6 P.O. (angiographically diagnosed) that had been found in 16 months. In all these cases, whenever there was a clinical e/or B-scan ultrasound suspect, angiographic recommendations for the detection of that lesion have been applied. One of these 6 patients, clinically asymptomatic, refused surgery, remaining asymptomatic for cerebral ischemia during the successive 16 months; angiographic control evidenced an unmodified P.O. The other 5 patients, clinically symptomatic, underwent surgical correction: in one, intraoperative finding was a total carotid occlusion. In the other 4 patients the P.O. was confirmed and an endoarterectomy has been done. No immediate or later complications have been noted (clinical and ultrasonographic average follow-up time was 12 months). The experience described by the authors leeds to some considerations: a) the carotid P.O. is not so rare; specially if adequate angiographic technique has been employed; b) the non-invasive studies could not reliably distinguish a P.O; c) intraoperative findings do not confirm, always, angiographic ones but a fibrous, chronic and totally occluded internal carotid artery; d) the evolution of P.O. in a complete carotid occlusion is very probable but not obligatory, and if this happens it needs long period of time; consequently the surgical correction of P.O. could be justified but not urgently; e) the surgical correction of the P.O. can be done without particular difficulty and its outcome is so similar to those obtained from the routine carotid surgery.

Glyoxalase I polymorphism: gene frequencies in two Italian populations.

The gene frequencies for human red cell glyoxalase I have been determined in 1,222 unrelated subjects from two areas of Central Italy (Rome and Viareggio). No significant difference has been found between the two samples. Therefore the data have been pooled. The cumulative GLO1 gene frequency estimate is 0.376 +/- 0.010. This gene frequency is comparable to that reported for another sample from Rome and very similar to that found in Naples while it is significantly lower than those reported for Northern Italy (Milan and Genoa) and for the Northern European Caucasian populations studied so far.

Phosphoglycolate phosphatase polymorphism: gene frequencies in three Italian samples.

The electrophoretic polymorphism of the PGP locus has been studied in about 1,700 Italians. The sample consisted of individuals from Viareggio (North-Central Italy), Rome (Central Italy) and Cagliari (Sardinia, Southern Italy). Comparison among the three groups showed a high degree of heterogeneity. The Sardinian sample was well differentiated from the other two concerning the frequencies of both the PGP3 and of PGP2 alleles. The frequency of the PGP1 allele varied from 0.900 (Viareggio) to 0.987 (Cagliari). The gene frequencies, together with those available for other European populations were plotted against the latitudes of the different localities sampled and fitted to a North-South cline.

Human placental alkaline phosphatase electrophoretic alleles: quantitative studies.

Human placental alkaline phosphatase (ALP) activity has been determined in specimens obtained from 562 Italian subjects. The mean activities of the three common homozygotes (Pl 2 = 4.70 +/- 0.24, Pl 1 = 4.09 +/- 0.08, and Pl 3 = 2.15 +/- 0.71 mumol of p-nitrophenol produced) were significantly different. The differences among the various allelic forms account for 10% of the total quantitative variation of the human placental alkaline phosphatase.