Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review.

The acrofacial dysostosis (AFD) syndromes are an heterogeneous group of disorders with undefined classification and inheritance. We report the sonographic and clinical features of an AFD fetus with predominantly pre-axial forms. We made a prenatal diagnosis of Nager syndrome but postnatal examination showed post-axial defects previously undetectable by ultrasound.

Minilaparotomy vs laparotomy for uterine myomectomies: a randomized controlled trial.

AIM: To evaluate the efficacy and applicability of the minilaparotomy technique in abdominal myomectomies and to compare it with traditional laparotomy. METHODS: We enrolled 99 women, suffering from symptomatic uterine myomas, to be operated for myomectomy. Through computer randomization, 55 women were assigned to the study group (minilaparotomy) and 44 women to the control group (traditional laparotomy). Women assigned to the study group were operated using a recently modified minilaparotomy technique. Statistical evaluation was performed through Mann-Whitney U test, chi2 test, Student's t-test. RESULTS: Duration of surgery, time for spontaneous recanalization and days of postoperative hospital stay were significantly lower in the study group, as well as treatment satisfaction reported by the patients (p<0.05). Moreover, each minilaparotomy operation ended by saving 620 Euro. CONCLUSIONS: Minilaparotomy seems to be a valid alternative to the removal of symptomatic uterine myomas. The objective and subjective advantages in operated patients, as well as the reduction in sanitary costs are underlined.

Computed tomographic scans in posttraumatic epilepsy.

The occurrence of posttraumatic epilepsy was studied in 219 patients who had had a computed tomographic (CT) scan within three days after a civilian head trauma. Posttraumatic epilepsy was observed in 13 patients. All of them had focal brain damage shown by CT scan. The predicting power of both clinical risk factors and CT scans was analyzed by multiple logistic regression. Only an intracerebral hemorrhage and intracerebral hemorrhage plus satellite extracerebral hematoma proved significantly associated with posttraumatic epilepsy. This result has important implications in the design of posttraumatic prophylaxis trials.

The prevalence of lingual-facial-buccal dyskinesias in the elderly.

We examined an unselected sample of 398 subjects aged 67 to 87 years. Only six (1.5%) subjects presented lingual-facial-buccal dyskinesias (LFBD). LFBD, therefore, are rare neurologic manifestations. They are more frequent in women than in men and in more elderly subjects. Furthermore, in three of six cases, they were associated with senile dementia. Previous studies performed on hospital-based populations probably overestimated the prevalence of LFBD.

Prevalence of Parkinson's disease in the Republic of San Marino.

A prevalence survey on Parkinson's disease (PD) was performed in the Republic of San Marino, which is the smallest independent state in the world, and is located near the Adriatic coast, within Italy. On April 30, 1986, it had a population of 22,322. We found 34 cases of PD (17 men, 17 women). Crude prevalence ratio per 100,000 population was 152 (154 for men, 150 for women) with an age-adjusted ratio of 185 (both sexes). This study shows that the prevalence of PD in the Mediterranean area of South Europe is similar to that in North Europe and the United States.

Abscess formation at the ischiorectal fossa 7 months after the application of a synthetic transobturator sling for stress urinary incontinence in a type II diabetic woman.

A 50-year-old diabetic woman was referred to our unit because of high fever, foul-smelling vaginal discharge and pain in the leg, 7 months after undergoing surgery for application of a transobturator suburethral sling. Patient evaluation revealed erosion of the tape through the vaginal wall; the infection had spread to the region of the internal obturator muscle and then up to the anterior recess of the ischiorectal fossa. The patient underwent surgery for sling removal, antibiotic therapy and, finally, surgical incisions to facilitate drainage of the abscess. All these passages were necessary to obtain complete resolution of the symptoms. Infectious complications are possible after transobturator sling procedures. Patients should then be informed about the risks of erosion and infection and be warned that the appearance of pain and foul-smelling vaginal discharge may indeed be the first symptom of subsequent and much more severe infectious complications.

[Release of antigens into the culture medium by LS fibroblasts in culture]. / Cessione di antigeni al terreno da parte di fibroblasti LS in coltura.

LS fibroblasts cultivated for 1 or more days in unsupplemented Eagle's MEM release antigens into the medium, without showing any evidence of lysis, but on the contrary continuing to proliferate. These antigens give up to three precipitation lines when tested by means of immunodiffusion and immunoelectrophoresis against specific rabbit antisera; one or two of them give identity reactions with antigens obtained by repeatedly washing the fibroblasts with balanced salt solutions. Evidence has been obtained that they are surface components, easily stripped or spontaneously shed by the cells.

[Interaction of the 3rd component of complement (C3) with the surface of LS murine fibroblasts]. / Interazione tra terzo componente del complemento (C3) e superficie di fibroblasti LS di topo.

LS fibroblasts grown in suspension culture fix C3 on their surface when they are incubated with human or guinea pig complement as shown by reacting te cells with FITC-labelled anti C3c sera or immunoglobulins. At the same time the lytic activity of complement is lowered and aliquots of C3 are subtracted from the sera following incubation with the cells. EDTA - EGTA experiments and other observations suggest that C3 fixation requires activation, which proceeds via the alternative pathway, in much the same manner as it has been reported for limphoid cells and thymocytes.

Lowered resistance to lytic agents in sucrose vacuolation.

Vacuolation in fibroblasts cultivated in the presence of sucrose is associated with progressive accumulation of the undigestible sugar. In radioisotope experiments the process lasted several days, and when the cells were subcultured back into a medium devoid of sucrose the label was also lost after several days. This type of vacuolated cells is more fragile when it is challenged with lytic agents. 51Cr-labelled LS fibroblasts released more radioactivity when they had been growing in the presence of sucrose, whether they were suspended in media of decreasing osmolarity, in dilutions of various surfactants, exposed to high temperatures, or subjected to mechanical stress. It is concluded that these cells exhibit a lower resistance when exposed to unfavourable environments, but retain their viability in growth media despite some morphological and biochemical alterations.

[Action of high temperature on the integrity of LS fibroblasts. I. Effect of culture in the presence of sucrose]. / Azione di temperature elevate sulla integrità dei fibroblasti LS. Nota I: Effecto della coltura in presenza di saccarosio.

LS fibroblasts which have accumulated sucrose into cytoplasmic vacuoles during 4 days are more fragile than normal controls when they are exposed to temperatures between 45 degrees C and 60 degrees C. Continuing to cultivate for 6 more days in the presence of sucrose apparently improves the resistance of the vacuolated cultures to the damaging temperatures, possibly because of a selective enhancement of the more resistant cells.

[Action of high temperature on the integrity of LS fibroblasts. II. Effect of duration of presence in a medium containing sucrose]. / Azione di temperature elevate sulla integrità dei fibroblasti LS. Nota II: Effetto della diversa durata di permanenza in terreno contenente saccarosio.

The resistance to high temperatures of LS fibroblasts starts lowering quite rapidly when the cells have been suspended in a culture medium containing sucrose. On the other hand, transferring back to normal medium for increasing times cells cultivated for 4 days in the presence of sucrose seems to gradually improve their resistance.

[Growth of the Yoshida ascites/hepatoma in co-culture with rat fibroblasts]. / Osservazioni sulla crescita dell'epatoma--ascite di Yoshida in cocoltura con fibroblasti di ratto.

Ascites hepatoma cells (Y) co-cultured with rat fibroblasts (F) in Dulbecco-Eagle's MEM (DMEM) proliferate rapidly in suspension, at a rate consistent with that shown in vivo after intraperitoneal injection; the population doubling time is about 1 day. The log phase of growth may be retained indefinitely, provided fresh medium is supplied regularly and the F monolayer is changed when necessary. The tumorigenicity is preserved. To maintain a high rate of growth the presence of F seems important: in this study, culturing without F in various media at best only sustained slow proliferation rates; this is in keeping with the notion of normal tissue components supplying useful factors to the neoplastic cells. Adding minced polyester surgical thread (Mersilene - M) into the co-cultures slowed down the growth of Y to some extent, yet no evidence has been obtained of toxic compounds released by M.

[Observations on cytolysis by cobra venom. Effect of sucrose loading]. / Osservazioni sulla citolisi da veleno di cobra. Effetto del carico con saccarosio.

LS cells cultivated for 4 days in sucrose-containing medium (Su) are more fragile than cells cultivated in medium devoid of this sugar (TN) when they are incubated with Naja-Naja venom; in fact the 51Cr radioactivity released into the medium by previously labelled cells is increased for the sucrose ones. Phospholipase does not seem to contribute to the lytic activity of the venom, which is dependent on the direct lytic factor: neither varying the temperature of incubation nor adding EDTA to the incubation medium modifies the results. Adding Ca++ decreases the 51Cr radioactivity released particularly by the cells grown in TN, suggesting a stabilizing action of this cation.

Lyme disease. First reported case in Sicily.

Recently many cases of Lyme disease have been described in Italy. The patients come prevalently from Friuli Venezia Giulia and the eastern Ligurian Coast. Isolated cases have been diagnosed in other parts of northern Italy and in the central regions. We describe the first Sicilian case, concluding that Lyme borreliosis may well be widely distributed in our country.

Dementia in subjects over 65 years of age in the Republic of San Marino.

A study on neurological conditions was performed in the Republic of San Marino, which is the smallest independent state in the world (60 km2, 21,792 people). We personally examined or collected information on all people born in 1898, 1903, 1908, 1913 and 1918 and living in the Republic of San Marino on 31 July 1985. We found 29 people out of 488 with mild to severe dementia. Frequency of dementia increased progressively with age, from 1.8% among 67-year-olds to 25% among 87-year-olds. In women the increase was due mainly to primary degenerative dementia, whereas in men other types of dementia were involved. Our study shows a female/male ratio of more than 2:1 for primary degenerative dementia even considering mild dementia, and this form of dementia represents about 50% of all types of dementia. We found an association between severe auditory loss and primary degenerative dementia.

Cluster headache in the Republic of San Marino.

The prevalence of cluster headache (CH) in the Republic of San Marino (21,792 inhabitants; 10,893 men and 10,899 women) was studied, reviewing the past 15 years' medical records of neurological, ophthalmological, and otorhinolaryngological services. Further cases were searched for by means of a letter sent to each inhabitant. Control of the case collection method was performed on a random sample of 1314 inhabitants over 7 years, interviewed for possible past or present cluster headache. We found 15 cases of CH (14 men, 1 woman), for an estimated prevalence ratio of 69 cases per 100,000 population. No previous reports have been published on the prevalence of CH in the general population.

Reliable disability scale for myasthenia gravis sensitive to clinical changes.

INTRODUCTION: we developed a disability scale to monitor myasthenia gravis (MG) patients, based on degree of function impairment and daily frequency of each symptom. MATERIAL & METHODS: the scale was based on standardized questions and clinical examination. The scale was administered to 12 patients, one or more times, for a total of 22 interviews. Each observation was recorded on videotape and reviewed by five independent observers. The ability of our scale to discriminate clinical changes was also compared with the Osserman classification. RESULTS: our scale showed from substantial to almost perfect inter and intraobserver agreement. Our findings showed that clinically relevant changes not detected by Osserman staging were disclosed by our scale. CONCLUSION: our scale is simple and easy to use in clinical practice. It offers an accurate means of evaluating disability in MG patients and may detect clinically relevant changes in disability. It would therefore be useful to monitor the effects of therapy.