Biomedical subjects
Publications and source records attributed to G Caruso.
Two cases of fetal choroid plexus papillomas diagnosed by ultrasound at 21 weeks of pregnancy are reported. Dilatation of the cerebral lateral ventricle, unilateral in one case, made it possible to see the irregular profile of the choroid plexus that was confirmed, successively, by magnetic resonance imaging and anatomic pathological examination on the aborted fetuses.
Motor evoked potentials (MEPs) from abductor pollicis brevis (APB) and tibialis anterior (TA) muscles elicited by transcranial magnetic stimulation of the motor cortex were studied in 15 patients with Alzheimer disease (AD). An abnormally higher MEP threshold in APB, frequently associated with absence of the MEP in relaxed TA muscles, was found in 40% of patients, almost all of them in the more severe stage of the disease. The MEP amplitude and averaged MEP/MAP ratio were reduced respectively by 20% and 26% in the APB muscle, and by 46.7% and 53.3% in the TA muscle. The less frequent prolongation of the central conduction time (CCT) (20%) might reflect preservation of the impulse propagation along the surviving pyramidal fibers. In 63.6% of the patients the central silent period (cSP) duration in the APB muscle was shortened; the mean value was significantly different between patients and controls. The results of this study suggest that loss and/or dysfunction of motor cortex neurones, including pyramidal cells and inhibitory interneurones may occur in AD patients before clinical signs become apparent.
A multimodal electrophysiological study was performed on 41 patients from 24 families with autosomal dominant cerebellar ataxia type I (ADCA I). Upper- and lower-limb motor evoked potentials (MEPs) to transcranial magnetic stimulation, median and tibial nerve somatosensory evoked potentials (Mn and Tn-SSEPs), orthodromic sensory (SCV) and motor conduction (MCV) velocity along median and tibial nerve, brainstem auditory evoked potentials (BAEPs), and visual evoked potentials (VEPs) were examined. Molecular analysis showed 2 SCA1 families and 2 families linked to the SCA2 locus. A sural nerve biopsy was performed in 5 patients. Brainstem damage of the auditory pathway was observed in 79% of patients examined. VEP abnormalities possibly of central origin were found in 52% of patients. MEP and SSEP abnormalities were differently distributed along the pathways examined: the longer the pathway, the higher the occurrence and severity of impairment. Peripheral dying-back neuropathy (confirmed by nerve bioptic data) was a frequent finding (56%). A progressive degenerative process involving first the longest tracts of the central motor and central and peripheral branches of somatosensory pathways is hypothesized in ADCA I. MEP abnormalities were more frequent in SCA1, and the sensory-motor neuropathy was more severe in SCA2.
The autotrophic ammonium-oxidizing bacterium Nitrosococcus oceanus was studied in the brackish lake of Ganzirri by cultural and immunofluorescent methods. The preparation of the specific antiserum in rabbits is reported. The polyclonal antiserum for Nitrosococcus oceanus cross-reacted with other ammonia oxidizing strains, but not with other marine bacteria. Temporal changes were determined by taking monthly water samples from a station 6 m deep and the distribution in sediments was investigated in four stations. Isolation of a strain of Nitrosococcus sp. was obtained from a sediment sample collected in December. The abundance of Nitrosococcus spp. bacteria correlated positively with particulate organic carbon (POC), particulate organic nitrogen (PON), temperature and total bacteria, whereas there was a negative relationship with oxygen tension. No correlation was found between immunofluorescent and MPN counts of Nitrosococcus spp. bacteria.
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The results of a study carried out by numerical analysis on Vibrio strains isolated from the waters of the Straits of Messina are reported. The quantitative data showed the presence of low bacterial densities (ranging from 9 to 99 CFU/100 ml of water) due to the intense currents which characterize this area; also the highest bacterial counts were generally found during the "montante" current. With regard to the qualitative results, there was a predominance of vibrios belonging to V. mediterranei, V. splendidus II and V. pelagius II species, which represented respectively 25%, 19% and 13% of the total bacterial population. The species distribution did not seem related to sampling stations or depth. The taxonomic structure, obtained using the simple matching coefficient and unweighted average linkage clustering, revealed the presence of 7 main clusters (S = 80-95%), which included strains of various origin because of the particular turbulence of the waters of the Straits.
We report the case of a 40-year-old woman whose Sorin tilting disc mitral prosthesis was obstructed by fibrous overgrowth to the point of near occlusion. The unusual features of this case are that the patient survived reoperation and that her preoperative symptoms were mild despite an immobile disc and near occlusion of the valve. In most similar cases in the literature, preoperative symptoms have been acute and mortality has been high.
We report a case of an epileptic pregnant woman at 20 weeks of gestation treated with carbamazepine, whose fetus was affected by major malformations probably due to the drug teratogenicity. After a therapeutic abortion minor malformations were also found. After seven months the patient was pregnant again, at 14 weeks of gestation she aborted spontaneously a fetus with no malformations. During this pregnancy the patient took a reduced dosage of carbamazepine.
This study reports 4 cases of Behçet Syndrome which came under our observation and were surgically treated for vascular or gastrointestinal manifestations. These cases included 3 males and 1 female, mean age 26.5 years, of which 2 were treated with implantation of prosthesis for aneurysm of the abdominal aorta with recurrence of Behçet vasculitis and prosthesis substitution three years later in one case, 1 with total colectomy for ulcerous rectocolitis, while the last case (female) required excision and plastic reconstruction, for a perforated duodenal ulcer. Immediate and long-term results of the surgical treatment of the gastrointestinal and vascular manifestations and/or complications were satisfactory, whereas the long-term results of the medical treatment of the basic disease were unsuccessful in 50% of cases. BS is a rare affliction, whose pathogenesis is still poorly defined and in which the results of medical treatment cannot be regarded as satisfactory to date. Surgical treatment of its vascular and gastrointestinal manifestations and complications, on the other hand, was effective in our experience.
This paper describes a case of hemorrhage from an aortic leiomyosarcoma in which the patient exceptionally survived for 4.2 years after surgery. The operation consisted of resection of the aortic tract involved by the tumour and graft of a prosthesis. The diagnosis of aortic leiomyosarcoma had been based on the histological analysis and confirmed by histochemical and immunohistochemical findings.
We investigated the ultrasonographic (US) features of Stener injury and thus the role of US in the diagnosis of this condition. Stener injuries are characterized by the tear of the cubital ligament system of the first metacarpophalangeal joint during hyperabduction. This condition may be associated with the displacement of the ligament proximal stump above the thumb adductor muscle. We examined 12 patients (9 men and 3 women) with a clinical diagnosis of joint instability due to hyperabduction of the first metacarpophalangeal joint. All the US exams were performed with a linear probe (7.5-10 MHz); a 13-MHz probe was also used in 7 patients. All the patients were submitted to radiography in the standard projections, to detect associated bone injuries. US allowed the identification of a round lesion surrounded by a hypoechoic halo, between the distal edge of the dorsal interosseous muscle of the first finger and the first metacarpal bone (the proper Stener injury) in 4/12 patients. In contrast, no typical sign was shown in the other 8 patients. US results were then compared with surgical findings. The diagnosis of proper Stener injury was surgically confirmed in 4 patients. Only 2 patients with clinical signs of thumb instability, who were negative for Stener injuries at US, were submitted to surgery which demonstrated the ligament tear responsible for joint instability, but ruled out the displacement. To conclude, US must be integrated with clinical signs because this imaging method accurately shows complete tears with displaced proximal stump of the cubital ligament.
To date, adult intracranial circulation has been studied only with pulsed-wave Doppler US, which is a useful diagnostic tool even though several technical and practical limitations are related to the difficult location of intracranial vessels. Recently, dedicated color-Doppler transducers have been proposed, which can pass through the skull which makes a physiologic barrier for the US beam: this technique has been called transcranial color-Doppler (TCD). We report on our personal experience with TCD in 30 healthy volunteers (12 men and 18 women, age range: 17-75 years) submitted to TCD for Willis circle imaging. We used an ATL Ultramark 9HDI unit with a phased array transducer (3.5 MHz) and 2 MHz Doppler frequency; the PRF was 3000 Hz, with 80% color gain. 100 Hz wall filters were used. The middle cerebral artery was always shown correctly in all subjects, while the posterior one was depicted only in 7 cases (23.3%); in contrast, the anterior cerebral artery was demonstrated in 3 cases only (10%). Nowadays, TCD is mostly applied to normal intracranial circle studies, to assess normal blood speed values more accurately. To this purpose, both the direct visualization of blood vessels and the flowmetric values obtained measuring the incidence angle are useful pieces of information. TCD permits a more accurate study of intracranial local blood flow in the Willis circle and of its changes in pathologic conditions. In contrast, TCD yield is poor in characterizing intracranial tumor tissue.
Squamous cell carcinoma of the posterior oro- and hypopharyngeal wall (SCCPPW) is a relatively rare tumour. A retrospective investigation of 63 patients with SCCPPW and 449 patients with carcinoma of the lateral oro- and hypopharyngeal wall, treated between 1964 and 1992, has been carried out. Most SCCPPW were asymptomatic, macroscopically superficial and at early stages. They were usually detected by chance during an examination for a different type of malignancy. Fifty-seven percent of SCCPPW patients had multiple tumours; however this occurrence did not alter the survival rate. The crude five-year survival rate for SCCPPW was 22 percent and was not significantly different from that of patients with lateral wall tumours. Moreover, both local control and recurrences also were not statistically different.
The syndrome of peroneal muscular atrophy, or Charcot-Marie-Tooth (CMT), disease represents the most common inherited peripheral neuropathy, with a prevalence of about 1 per 2500. The disease is usually transmitted in an autosomal dominant fashion, although it can display all the mendelian patterns of inheritance. The chromosome 17-linked form (CMT1a) appears to be the most common form of the disease in all the ethnic groups studied so far, Italians included, and is due to a tandem duplication in 17p11.2. In order to study the distribution of CMT types and to establish a genotype-phenotype correlation in patients from Central and Southern Italy, we collected 19 CMT pedigrees diagnosed in the years 1992-1993. Simple tandem repeats (STR) polymorphism analysis with the marker RM11-GT and Southern blotting with the probes pVAW409R3 and pVAW412 were performed, demonstrating a high prevalence (about 60%) of 17p duplication in the families studied. No clinical or electrophysiological differences were noted between CMT1 patients with or without 17p duplication, respectively. Two families affected by CMT2 showed no evidence of rearrangement at the D17S122 locus. These data are consistent with the hypothesis of a different molecular basis for CMT2.
Twenty women with breast cancer confirmed at cyto-histology, 4 of them with axillary lymph node metastases, were submitted to neo-adjuvant chemotherapy with the conventional systemic treatment combined with intralesion drug administration and monitored by means of color-Doppler ultrasonography (CDU). Before treatment, CDU demonstrated marked color signal increase in 18 cases. After treatment, tumor vascularity clearly decreased and response was more apparent since treatment had been local rather than systemic. In this paper, the consistent semiology of breast cancer is discussed together with the progressive changes in CDU color signal, the latter a valuable parameter for surgical timing. Histology, performed during treatment and on the surgical specimen, allowed treatment results to be monitored, showing a rich proliferation of connective tissue and the persistence of rare neoplastic nests. In 2/4 patients with lymph node metastases, the latter lesions reduced in size. The postoperative follow-up of these patients, which was the object of our study, currently ranges 4 to 36 months, in which period of time no relapses have been observed. The results obtained so far suggest the effectiveness of combined parenteral and local drug administration in the preoperative treatment of breast cancer. Moreover, this approach makes surgery feasible even in the most advanced forms (T3-T4). CDU is the most accurate method to monitor neo-adjuvant treatment effectiveness.
After a brief discussion of the concept of statistical, social and functional norm, the authors stress that the latter is related to the constant evolution and hence uncertain nature of scientific knowledge. With regard to mental disease it is underlined that, during the history of psychiatrics, social aspects have often been confused with functional ones, and uncommon statistical aspects have been interpreted as abnormal. Likewise, as it changes over time even the social norm has interfered with functional norms and consequently with the pathological process.
Posterior tibial tendon (PTT) tears are the most common cause of unilateral flatfoot in adults. It is a chronic pathologic condition with a degenerative inflammatory character which usually affects middle-aged or elderly women, with no history of trauma. PTT tears occur more rarely in young patients, after an acute traumatic event. Clinically, PTT tears present with pain along the tendon, increased by weight bearing, swelling and functional limitation. PTT tears are surgically classified in three types: with tendon hypertrophy, with tendon atrophy and with complete tendon tear. The three different anatomicosurgical patterns require different therapeutic approaches. This work was aimed at investigating MR capabilities in recognizing the direct and indirect signs of PTT tears, assessing MR sensitivity in different types of tears. Fourteen patients with clinically suspected PTT tears and 10 control patients underwent MRI of the ankle (0.5 T, GE Vectra) following a study protocol including SE T1-weighted and FSE T2-weighted scans acquired on the axial and sagittal planes. In all patients, the transverse diameter, the shape and the section surface of the lesions were calculated on the axial planes at different levels; all these parameters were compared with those of the adjacent tendons, i.e., flexor longus ditae and flexor hallucis. Moreover, the probable presence was investigated of intratendineous signal intensity changes, of peritendineous synovial fluid and of indirect signs of PTT tear, i.e., the lack of longitudinal talonavicular alignment and the bulging of the medial navicular tubercle. According to MR results, the 14 patients were subdivided into 8 patients with type-I tears, 2 with type-II tears and 4 patients with type-III tears. The measures of healthy and injured tendons were in substantial agreement: in fewer cases, agreement was found also between symptomatic and control patients with intratendineous signal changes. Thus, the specificity of the two parameters was reduced. Finally, such indirect signs of PTT tear as a hypertrophic navicular tubercle and the lack of longitudinal talonavicular alignment exhibited good specificity, but sensitivity was barely sufficient. MR diagnoses were confirmed at surgery in 6 patients with type-II and type-III tears. In conclusion, MRI appears to be a suitable modality for recognizing and classifying PTT tears and a useful tool for the treatment and follow-up of these patients.
Clinical symptoms and/or signs of peripheral neuropathy were found in 17 of the 19 patients we studied with liver cirrhosis. In 16 of the 19 patients electrophysiological abnormalities were also observed. Mild-moderate alterations involved both motor and sensory fibres, with a higher incidence in the lower rather than upper limbs, and indicated a fibre loss rather than a fibre demyelination. These changes were observed in both alcoholic and non-alcoholic cirrhotics, suggesting a primary role of liver cirrhosis per se. In fact, both the clinical and electrophysiological abnormalities were related to the severity of the liver disease. A careful clinical examination could reveal the presence and extent of neuropathy in most cirrhotic patients.