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 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.

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.

[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.

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.

[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.

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.

[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 HbA/HbA2 ratio in newborns and its correlation with fetal maturity.

The relative amounts of HbF, HbA and HbA2 were determined in about 1000 newborns and their parents. In newborns the mean value of HbA2 was 0.27 +/- 0.02% and that of HbF 74.69 +/- 0.25%. The ratio HbA/HbA2 was estimated at different gestational ages and was found to range from 101 at 32 weeks gestation to 76 at 45 weeks, indicating that the relative amount of HbA2 increases with fetal maturation. The correlations between the levels of the different haemoglobins and various indexes of fetal maturation (gestational age, birth weight, crown-heel length and head circumference) are also given.

Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.

In the course of a population study in Italy, blood samples collected from 802 unrelated newborns and both their parents (when possible) have been examined for galactose-1-phosphate uridyltransferase (GALT) polymorphism. Electrophoresis and quantitative assay of GALT activity were not always sufficient for an accurate identification of the different GALT genotypes; segregation analysis provided better criteria for classification. A parent-child correlation coefficient for GALT activity equal to 0.107-0.155 was found when only the transmission of the normal allele was concerned, but the correlation rose to 0.618-0.682 when the Duarte and Los Angeles alleles were segregating. This confirmed the existence of a low (Duarte) and high (Los Angeles) activity variant. The overall validity of our genotype classification is supported by the good agreement between observed and expected mating types and segregations. The following gene frequencies were found for the different alleles: N = 0.9192, G = 0.0036, D = 0.0372 and LA = 0.0400.

Screening for cytogenetic polymorphisms in a random sample of liveborn infants from Italian population.

The frequency of major and minor chromosome variants is studied in a random sample of newborns in Central Italy. Special attention is paid to the objective criteria used to evaluate minor variants. In our sample, the frequency of acrocentric chromosome variants is found to be unusually high compared with previous studies. Also, the distribution of C-band sizes differs from that reported for other populations, while the frequency of major chromosome variants is found to be the same.

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.

Further genetic heterogeneity of human red cell phosphoglucomutase-1: a mon-electrophoretic polymorphism.

The electrophoretic patterns of human red cell phosphoglucomutase (PGM) were determined by standard starch-gel electrophoresis on two aliquots of haemolysate, one of which was previously heat-treated. Samples from 67 families and 417 unrelated healthy subjects were examined. Heat denaturation studies combined with electrophoresis showed a greater heterogeneity of phosphoglucomutase-1 (PGM1) isozymes than that revealed by electrophoresis alone. Both PGM11 and the PGM21 isozymes turned out to be either heat-resistant (tr) or heat-sensitive (ts) and this new phenotypic property segregated along with the electrophoretic allele with which it was originally associated. Comparison of red cell PGM1 patterns of 217 PGM21-1 heterozygous individuals, analysed both as described in this paper and by acid starch-gel electrophoresis, which also distinguishes two common PGM11 (PGM1S1 and PGM1f1) and two common PGM12 (PGM2S1 and PGM2F1) allelic products, has shown that the two sets of four alleles do not coincide. Thus eight different PGM1 alleles were identified. The PGM1Str1, PGM1Sts1, PGM1Ftr1, PGM1FTSts1, PGM2Str1, PGM2Sts1, PGM2Ftr1 and PGM2Fts1 gene frequencies were estimated as 0 . 523, 0 . 066, 0 . 099, 0 . 029, 0 . 224, 0 . 012, 0 . 043, 0 . 004, respectively. Three polymorphic sites are hypothesized within the PGM1 structural gene and the observed frequencies of the eight alleles discussed in terms of 'disequilibrium' among these sites. This is the second example of a human enzyme isoelectrophoretic polymorphism revealed by research specifically aimed at detecting electrophoretically cryptic genetic variations. The technique used in this study appears to offer a reliable means of detecting isoelectrophoretic variants for proteins already known to be electrophoretically polymorphic.