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.

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.

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.

[Perinatal morbidity and mortality in children born to mothers with gestational hypertension]. / Morbilità e mortalità perinatali in nati da madri affette da ipertensione gestazionale.

Gestational hypertension is a severe pathology leading to important maternal and neonatal effects. It represents one of the most important causes of maternal morbidity and contributes to a high percentage of perinatal mortality, determined by fetal hypoxia and especially by prematurity and low birth weight. To-date the only treatment offered in gestational hypertension remains delivery, which has to be scheduled regarding timing and method on the basis of the appearance of hypertension, of its severeness and maternal and fetal complications. To evaluate the clinical course and the presence of hypertensive risk factors, a clinical-epidemiological study was carried out on two groups of pregnant women: a group made up of 50 women with hypertension and a control group of 80 women in whom no gravidic pathology arose. We hence were able to reveal the risk factors associated with hypertension in pregnancy such as maternal age, nulliparity, and elevated body mass index. Regarding neonatal prognosis, we observed a higher incidence in premature birth (30th- to 38th week of gestational age) and the need for elective or urgent caesarean sections, with respect to the spontaneous deliveries observed in the control group. We also observed reduced weight of both placenta and the newborn in hypertensive mothers with significant statistical differences between the two groups (p < 0.001). Evaluation of neonatal data at birth showed lower Apgar indices at 1st and 5th minute from birth in the study group with a higher percentage of newborns transferred to the neonatal intensive care unit. We also observed a high percentage of still-births equal to 14% in the study group as opposed to the control group.

[Evaluation of the peripartum effects of 2 analgesics: meperidine and tramadol, used in labor]. / Valutazione degli effetti peripartum di due analgesici, meperidina e tramadolo, utilizzati in travaglio di parto.

The need for analgesia to overcome pain in labour is highly requested by women today. Various ways either non pharmachologic e.g. Emotional sustain, psycho-prophylactic preparation, yoga and hypnosis or pharmachologic such as epidural blockade or parenteral are used. Therefore in our study we evaluated the efficacy and tolerability of the two opioids usually used today in parenteral analgesia to reduce pain during labour: Tramadol and Meperidine. We studied two groups of patients each made up of 20 women in labour, all at term and with a physiologic course of pregnancy. 75 mg i.m. of Meperidine chloryhydrate were somministered in the first group while in the second group 100 mg i.m. of tramadol chloryhydrate were somministered. Various maternal, fetal and neonatal parameters were then monitored demonstrating--A moderate maternal analgesic effect in both drugs (evaluated through the analogic grading of pain). In the group to whom Meperidine was given, sedative effects on the mother were observed associated with respiratory depression in the newborn (the latter evaluated through the Apgar index at 1st and 5th minute of life and pH of the blood obtained at the umbilical cord. The data obtained permitted us to conclude that Tramadol in accordance to the obtained in literature gives an analogous analgesic effect, with better tolerability for the absence of collateral effects on the mother, fetus and newborn.

[Lavage of the birth canal with chlorhexidine: a new valid method for the prevention of perinatal infections]. / Il lavaggio del canale del parto con clorexidina: una nuova valida metodica di prevenzione delle infezioni perinatali.

Perinatal morbidity and mortality are due to various infective agents, mainly represented by beta-hemolytic group B Streptococcus. The perinatal disease related to this infection is distinguished in Early-onset, characterised by pneumonia and sepsis, and Late-onset which leads to sepsis, meningitis and pneumonia. Various strategies were therefore proposed to prevent transmission including immunisation and chemoprophylaxis. All these methods however present adverse effects and are most of all expensive to carry out. Taha et al. reported an interesting experience regarding the reduction of perinatal infections following the cleansing of the birth canal with a solution of Chlorhexidine 0.25% during labour (1996-1997). It seemed interesting for us to assess the applicability and efficacy of a new strategy of prophylaxis of perinatal infections in a Developing Country based on the association of two of the simple strategies proposed i.e.: cleansing the birth canal with chlorhexidine and chemoprophylaxis in cases with risk factors without culture screening. We studied two groups of patients: one in which cleansing of the birth canal was used and the second (control group) in which the old method already applied in the hospital (i.e. cleansing of the external genitals with Cetrimide 1%+ Chlorhexidine 0.1%) was carried out associated with antibiotic therapy when risk factors arose. We observed a total absence of neonatal mortality due to sepsis resulting from the association of the methods suggested even though the presence of sepsis evaluated through signs and symptoms like fever, poor feeding, apnoea or dyspnoea in newborns was similar in both groups.

Acute generalized dystonia due to a bilateral lesion of basal ganglia mainly affecting the nuclei pallidi.

We describe a case of acute generalized dystonia due to bilateral damage to the basal ganglia, mainly affecting the globi pallidi. The lesion was probably related to a hypoxic condition following a heroin injection. Therapy with pimozide almost completely controlled the dystonia.

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.

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.

Comparative study on the prevalence of myasthenia gravis in the provinces of Bologna and Ferrara, Italy.

This cooperative study was performed in the provinces of Bologna and Ferrara to estimate the prevalence rate of Myasthenia Gravis (MG). Two independent groups used the same case collection method and diagnostic criteria. The study was performed from January 1, 1987 to March 1, 1988. Cases were collected through: 1) review of clinical files from neurology clinics in Bologna and Ferrara, and from the main North-Italian centers for MG (neurology clinics of Milan and Turin; thoracic surgery unit, Turin); 2) thoracic surgery and intensive care units in Bologna and Ferrara; 3) physicians prescribing anticholinesterase drugs. Prevalence rates of generalized MG per million population were 60.9 in the city and 41.0 in the remaining province for Bologna and 118.9 in the city and 87.9 in the remaining province for Ferrara. The difference in prevalence rates between the two areas was statistically significant. Our survey shows that prevalence studies on MG may be biased by factors that cannot be controlled and that most previous studies have probably underestimated the prevalence of MG.

[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.

An epidemiological study on severe mental retardation among schoolchildren in Bologna, Italy.

The prevalence, causal origin of and impairments associated with severe mental retardation (SMR) were investigated among all school-age children (six to 13 years) living in the city of Bologna, Italy. 90 children (57 boys, 33 girls) with IQs less than or equal to 50 were identified. The prevalence of SMR was 4.2 per 1000 for males, 2.5 per 1000 for females and 3.4 per 1000 for both sexes. Causal origin was prenatal for 33.3 per cent, perinatal for 14.4 per cent, combined pre- and perinatal for 5.6 per cent and postnatal for 13.3 per cent. Another 12.3 per cent of the children with IQs less than or equal to 50 had autism or childhood psychosis, while there was no evident cause of mental retardation for the remaining 21.1 per cent. 50 per cent had at least one associated physical or neurological impairment other than mental retardation, with epilepsy and cerebral palsy predominating.

Neurological examination in subjects over 65 years: an epidemiological survey.

The frequency of abnormal findings at neurological examination was analyzed in an unselected sample of elderly people aged 67-87 years. Absent deep tendon reflexes and impairment of proprioceptive sensation rarely occurred in the elderly. Limitation of upward gaze and convergence appear a common finding, especially in the very old. Overall, the presence of cortical disinhibition signs (primitive reflexes and paratonia) did not discriminate well between subjects without CNS disease and demented patients. Only the presence of a prominent and persistent response to the stimulus and the number of cortical disinhibition signs found in the same subject appear useful criteria to distinguish between normality and dementia.

Slowly progressive ischemic stroke as first manifestation of essential thrombocythemia.

We report a case of essential thrombocythemia, the only clinical manifestation of which consisted of neurologic symptoms, including anomic aphasia, tactile and painful hypesthesia in the right hand, headache, and Gerstmann syndrome, with a relatively benign and slowly progressive clinical course. Neuroradiologic examination disclosed a large ischemic area in the left temporoparietal region. Cerebral angiography revealed an occlusion of the cortical branches of the left middle cerebral artery with total sparing of the carotid vessel. These findings are discussed in relation to the possible pathogenetic mechanisms of the vascular occlusion due to abnormal platelet function in essential thrombocythemia.

[Interference of inflammation caused by polyester with the growth of Yoshida ascite hepatoma. IV. Modifications of the sedimentation profile of the hepatoma cells]. / Interferenza dell 'infiammazione da poliestere con la crescita dell'epatoma ascite di Yoshida. IV. Modificazioni del profilo di sedimentazione delle cellule dell'epatoma.

It was previously shown that Yoshida's ascites-hepatoma cells (Y cells) intraperitoneally injected into rats carrying chronic inflammation caused by polyester thread rapidly disappear. In this paper the sedimentation rate in a continuous Percoll gradient at unit gravity (1 g) using the CELSEP apparatus (Sorvall), the mean diameter and volume of the Y cells harvested from the peritoneal cavity of untreated (NT) and polyester-treated (TM) animals were determined at 6-12-18-24 hours after the inoculum. At 6 hours a number of Y cells appeared enlarged both from TM and NT rats, while afterwards, and notably at 18 and 24 hours, their size was decreased and their sedimentation rate was reduced only in TM animals. It seems that the chronic inflammation causes alterations both in the size and in the density of the Y cells and probably one of the mechanisms of their death is through shrinkage and apoptosis.

[Interference of inflammation caused by polyester with the development of Yoshida ascite hepatoma in rats. V. Study of cytotoxicity in vitro]. / Interferenza della infiammazione da poliestere con lo sviluppo dell'epatoma-ascite di Yoshida nel ratto. V. Ricerca di citotossicita' in vitro.

It has been known for some years that rats developing a granulomatous inflammation following the intraperitoneal injection of fragments of a polyester suture thread (Mersilene, M) reject a graft of 10(8) Yoshida's ascites hepatoma cells, which on the contrary rapidly grow in M-uninjected animals, originating an ascites tumor and killing the rats in a few days. In this paper granulomatous (TM) and normal (control, C) small pieces of peritoneum (omentum, mesentery and parietal) have been cultivated for 15 h in Eagle-Dul becco's medium together with 10(5) 51Cr-labelled hepatoma cells: the release of the label, an index of cell lysis, was considerably higher in the TM cultures, suggesting a cytotoxic activity of some components of the granulomas. Differences have been observed in the amount of radioisotope released among the TM cultures, suggesting that the particular composition of the cell population may be relevant to the cytotoxicity versus the hepatoma cells.

Prevalence of mental retardation related to fragile X syndrome and other chromosomal abnormalities in the Republic of San Marino.

The prevalence of mental retardation related to chromosomal abnormalities, including fragile X syndrome, was studied among 2735 males aged between five and 20 years living in the Republic of San Marino. Five cases of chromosomal abnormalities were found, including one case with fragile X syndrome, with partial epilepsy and a CT scan showing a large arachnoid cyst in the posterior fossa. The prevalence of mental retardation due to chromosomal abnormality was 1.83 per 1000, and that due to fragile X syndrome was 0.37 per 1000. Although these findings relate to only a small population, they are the first from a Mediterranean area.