Deep neurological phenotyping in oculo-dento-digital syndrome.

OBJECTIVES: Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant congenital malformation syndrome characterized by high penetrance and great phenotypic heterogeneity. Neurological manifestations are thought to occur in about one third of cases, but systematic studies are not available. We performed deep neurological phenotyping of 10 patients in one ODDD pedigree. METHODS: Retrospective case series. We analyzed in depth the neurological phenotype of a three-generation family segregating the heterozygous c.416 T > C, p.(Ile139Thr) in GJA1. Clinical and neuroradiological features were retrospectively evaluated. Brain MRI and visual evoked potentials were performed in 8 and 6 cases, respectively. RESULTS: Central nervous system manifestations occurred in 5 patients, the most common being isolated ataxia either in isolation or combined with spasticity. Furthermore, sphincteric disturbances (neurogenic bladder and fecal incontinence) were recognized as the first manifestation in most of the patients. Subclinical electrophysiological alteration of the optic pathway occurred in all the examined patients. Neuroimaging was significant for supratentorial hypomyelination pattern and hyperintense superior cerebellar peduncle in all examined patients. CONCLUSION: The neurological involvement in ODDD carriers is often missed but peculiar clinical and radiological patterns can be recognized. Deep neurological phenotyping is needed to help untangle ODDD syndrome complexity and find genotype-phenotype correlations.

Motor unit number estimation (mune) as a quantitative measure of disease progression and motor unit reorganization in amyotrophic lateral sclerosis.

Motor Unit Number Estimation (MUNE), a technique allowing to estimate the number of functioning Motor Units (MU) in single muscles, was used to score the disease's severity and progression rate in a group of 58 patients with Amyotrophic Lateral Sclerosis (ALS). All patients underwent MUNE in the abductor digiti minimi (ADM) muscle during the diagnostic work-up (T0), after three (T1) and six (T2) months. A significant loss [p < .001] of MU and a decrease [p < .001] of the maximal M wave area at T0 was found, whereas mean step area was increased [p < .001]. During the follow-up (T1 and T2), MU loss continued, maximal M wave decreased, and mean step area increased significantly. The results confirm that MUNE is a suitable tool to quantify the pathological changes in MU in patients with ALS.

Mismatch negativity analysis in drug-resistant epileptic patients implanted with vagus nerve stimulator.

It is well known that some epileptic patients does not respond to conventional treatments, despite multiple combination of antiepileptic drugs, and they are therefore considered drug-resistant. For these patients, vagal nerve stimulation (VNS) represents a successful alternative to traditional therapy, and it is generally well tolerated; beside benefits on seizure frequency, VNS showed positive effects on cognition and mood. Aim of this study was to investigate short-term memory changes in a group of 12 patients implanted with VNS, through Mismatch Negativity wave (MMN). After 1 year of follow-up, MMN latencies and amplitudes did not show significant changes following VNS implantation, independently on current intensity, as compared with pre-implantation values. In two patients, MMN values, which were abnormal before VNS implantation, showed a major reduction in latency and an increase in amplitude after implantation, suggesting a likely positive effect of VNS on pre-attentive processes investigated by MMN.

Intra-arterial thrombolysis in basilar artery occlusion and recent haemorrhagic stroke due to arteriovenous malformation.

We report the case of a young patient suffering from a severe ischaemic stroke due to basilar artery occlusion occurring during selective digital subtraction angiography. This examination was performed in order to assess an arteriovenous malformation in posterior cerebral artery territory responsible for haemorrhagic stroke occurring 17 days before. Intra-arterial thrombolysis with urokinase was performed and basilar artery recanalization was obtained 8 h after stroke onset. Despite the severe neurological impairment, the prolonged symptoms of ischaemia and the high bleeding risk due to the recent cerebral haemorrhage in the same vascular territory involved in thrombolysis, the treatment determined a very favourable clinical outcome.

Electrophysiological evaluation of genito-sphincteric dysfunction in multiple system atrophy.

Thirteen patients with multiple system atrophy underwent multimodality neurophysiological evaluation, including sphincteric needle electromyography (EMG), sacral reflexes, pudendal nerve terminal latency, pudendal (PSEPs) and tibialis posterior nerve somatosensory evoked potentials (TPSEPs), and perineal motor evoked potentials (PMEPs). EMG revealed denervation or neurogenic changes, with reduction in spontaneous tonic activity at rest and abnormal pudendal nerve terminal latency in 10 patients (76.9%); anal reflex was delayed in 7 patients (53.8%). TPSEPs scalp responses were clearly abnormal in 4 patients (30.7%), whereas PSEPs exhibited changes in 9 (69.2%): in 6 patients responses were delayed at lumbar level (46.2%), and in 5 over the scalp (38.4%). PMEPs showed an increase in latency with a mild prolongation of central motor conduction time (CMCT) in 2 cases (15.3%); 1 patient had prolonged latencies following both cortical and sacral stimulation, but a normal CMCT. Even if diagnostic yield is not improved using these investigations they provide evidence of multiple lesion sites other than Onuf's nucleus.

[Clinico-diagnostic aspects and therapeutic considerations of the combined surgical and radiotherapeutic approach in 2 cases of sacrococcygeal chordoma: our experience]. / Aspetti clinico-diagnostici e considerazioni terapeutiche dell'approccio combinato chirurgico e radioterapico in due casi di cordoma sacro-coccigeo: nostra esperienza.

Chordomas are rare tumours arising from embryonic notochord tissue remnants. The commonest affected segment is the sacrum. This localization may present diagnostic and therapeutic problems. Two cases of chordoma treated by surgery and radiation are reported.

[Sclerosing adenocarcinomas of the hepatic hilum]. / Gli adenocarcinomi sclerosanti dell'ilo epatico.

The authors report their series of 7 adenocarcinomas of the hepatic hilum. Five patients with a stage IV tumor underwent palliative surgery while the remaining 2 patients underwent radical surgery. One patient died and 3 reported postoperative complications. Overall survival was 2 years and 6 months: these results can be considered satisfactory taking into account the advanced stage and the bad prognosis of this type of tumor. The aim of a better quality of life may represent a reasonable indication to surgery.

[Esophagectomy without thoracotomy: indications and our experience]. / Esofagectomia senza toracotomia: indicazioni e nostra esperienza.

In this paper the Authors report their experience of Orringer operation in 12 patients with oesophageal cancer observed from 1978 to 1992, and stress the possibility to extend the indications to Akijama oesophagectomy without thoracotomy for the treatment of malignant tumors of the entire oesophagus.

[Role of surgery in the treatment of gastroduodenal ulcer]. / Ruolo della chirurgia nel trattamento dell'ulcera gastroduodenale.

Medical approach to gastroduodenal ulcer has dramatically changed with the advent of anti-H2 drugs. There is still a role for surgery, but it has been confined to the treatment of the complications (perforation, stenosis and some cases of haemorrhage). In this paper the Authors collected the data of 43 patients (27 males and 16 females, mean age 45), operated between July 1988 and December 1992; 12 patients were operated for pyloric stenosis, 16 for gastrointestinal bleeding and 15 for perforation. Surgery was accomplished as an emergency procedure in 20 cases, delayed emergency procedure in 4 cases and elective procedure in 19 cases. 39 out of 43 patients were under anti-H2 treatment for a previous diagnosis of peptic ulcer. In conclusion, anti-H2 therapy, even correctly carried on, may not be effective in avoiding possible complications. This goal may be obtained in patients under omeprazole treatment.