Inferior vena cava ultrasonography before general anesthesia cannot predict arterial hypotension in patients undergoing vascular surgery.

INTRODUCTION: Intraoperative hypotension (IH) is an independent predictor of mortality. Some experts have suggested that ultrasound measurement of the inferior vena cava (IVC) in spontaneous ventilation can predict IH. OBJECTIVE: To evaluate the capacity of ultrasound measures of IVC in spontaneous ventilation to predict episodes of IH after anaesthesia induction. PATIENTS AND METHODS: We studied 55 high-risk cardiac patients undergoing vascular surgery. The maximum (dIVCmax) and minimum (dIVCmin) diameter of the IVC were measured and the collapsibility index CI = (dIVCmax-dIVCmin)/dIVCmax was calculated prior to anaesthesia induction. Three definitions of IH were used: systolic blood pressure (SBP) less than 100 mmHg, mean arterial pressure (MAP) less than 60 mmHg, and a decrease in MAP greater than or equal to 30% compared to baseline. RESULTS: There were no significant differences in dIVCmax or in CI between patients presenting IH after anaesthesia induction and those who did not. ROC curves for dIVCmax showed an area under the curve of 0.55 (0.39-0.70), 0.69 (0.48-0.90), and 0.57 (0.42-0.73) and ROC curves for the CI were 0.62 (0.47-0.78), 0.60 (0.41-0.78) and 0.62 (0.47-0.78) for the 3 definitions of IH (<100 mmHg, MAP < 60 mmHg, and MAP ≥30% baseline), respectively. CONCLUSIONS: Ultrasound measurements of IVC in spontaneous ventilation are not good predictors of IH after anaesthesia induction in these patients. The optimal cut-off points show low specificity and moderate sensitivity for predicting IH.

Las medidas ecográficas de la vena cava inferior no predicen hipotensión arterial postinducción anestésica en pacientes tratados mediante cirugía vascular / Inferior vena cava ultrasonography before general anesthesia cannot predict arterial hypotension in patients undergoing vascular surgery

Introducción: La hipotensión arterial intraoperatoria (HIO) es un predictor independiente de mortalidad. Las medidas ecográficas de la vena cava inferior (VCI) en ventilación espontánea han sido propuestas como predictores de este evento.ObjetivoEvaluar la capacidad de las medidas ecográficas de la VCI en ventilación espontánea para predecir episodios de HIO postinducción anestésica. Pacientes y métodos: Estudiamos a 55 pacientes de alto riesgo cardíaco tratados mediante cirugía vascular. Previamente a la inducción anestésica se midió el diámetro máximo de la VCI (dVCImáx.), el diámetro mínimo (dVCImín.) y el índice de colapsabilidad (ICVCI=dVCImáx. – dVCImin.)/dVCImáx.). Se utilizaron 3definiciones de HIO: presión arterial sistólica menor de 100mmHg, presión arterial media (PAM) menor de 60mmHg o un descenso de la PAM mayor o igual al 30% respecto a la PAM basal. Resultados: No hubo diferencias significativas en el dVCImáx. ni en el ICVCI entre quienes presentaron HIO postinducción anestésica y quienes no. Las curvas ROC para el dVCImáx. mostraron un área bajo la curva de 0,55 (0,39-0,70); 0,69 (0,48-0,90) y 0,57 (0,42-0,73), mientras que para el ICVCI fueron de 0,62 (0,47-0,78); 0,60 (0,41-0,78) y 0,62 (0,47-0,78), para las definiciones de HIO de<100mmHg, PAM<60mmHg y descenso de la PAM ≥ 30%, respectivamente. Conclusiones: Las medidas ecográficas de la VCI en ventilación espontánea no son buenos predictores de HIO postinducción anestésica en estos pacientes. Los puntos de corte óptimos permiten predecir hipotensión con baja especificidad y moderada sensibilidad.(AU)

Introduction: Intraoperative hypotension (IH) is an independent predictor of mortality. Some experts have suggested that ultrasound measurement of the inferior vena cava (IVC) in spontaneous ventilation can predict IH.ObjectiveTo evaluate the capacity of ultrasound measures of IVC in spontaneous ventilation to predict episodes of IH after anaesthesia induction. Patients and methods: We studied 55 high-risk cardiac patients undergoing vascular surgery. The maximum (dIVCmax) and minimum (dIVCmin) diameter of the IVC were measured and the collapsibility index CI=(dIVCmax-dIVCmin)/dIVCmax was calculated prior to anaesthesia induction. Three definitions of IH were used: systolic blood pressure (SBP) less than 100mmHg, mean arterial pressure (MAP) less than 60mmHg, and a decrease in MAP greater than or equal to 30% compared to baseline. Results: There were no significant differences in dIVCmax or in CI between patients presenting IH after anaesthesia induction and those who did not. ROC curves for dIVCmax showed an area under the curve of 0.55 (0.39-0.70), 0.69 (0.48-0.90), and 0.57 (0.42-0.73) and ROC curves for the CI were 0.62 (0.47-0.78), 0.60 (0.41-0.78) and 0.62 (0.47-0.78) for the 3 definitions of IH (<100mmHg, MAP<60mmHg, and MAP ≥30% baseline), respectively. Conclusions: Ultrasound measurements of IVC in spontaneous ventilation are not good predictors of IH after anaesthesia induction in these patients. The optimal cut-off points show low specificity and moderate sensitivity for predicting IH.(AU)

[Percutaneous vertebroplasty as therapy for vertebral fractures: results in a series of osteoporotic patients]. / Trattamento delle fratture vertebrali con vertebroplastica percutanea: risultati in una casistica di pazienti osteoporotici.

In the recent years, percutaneous vertebroplasty is available for the treatment of the vertebral fractures, primarily to relieve pain related to the lesion. In order to evaluate the efficacy and the safety of this technique, we have treated with percutaneous vertebroplasty, using polymethylmethacrylate, 22 patients, affected by one or more vertebral fractures caused by osteoporosis. All the patients satisfied the inclusion criteria of the American College of Radiology for percutaneous vertebroplasty. These patients were compared with a control group of 23 not treated subjects with vertebral fractures, using questionnaires for assessment of pain and quality of life, drug intake, use of corset, and tolerability of the surgery. In the large majority of patients, the treatment of osteoporotic vertebral fractures with percutaneous vertebroplasty resulted in a prompt, marked and sustained relief of vertebral pain with a persistent improvement of quality of life.

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.

Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder characterized by facial dysmorphisms, upper limb abnormalities, growth and cognitive retardation. About half of all patients with CdLS carry mutations in the NIPBL gene. The first Italian CdLS cohort involving 62 patients (including 4 related members) was screened for NIPBL mutations after a clinical evaluation using a quantitative score that integrates auxological, malformation and neurodevelopmental parameters. The patients were classified as having an overall 'severe', 'moderate' or 'mild' phenotype. NIPBL screening showed 26 mutations so classified: truncating (13), splice-site (8), missense (3), in-frame deletion (1) and regulatory (1). The truncating mutations were most frequently found in the patients with a high clinical score, whereas most of the splice-site and all missense mutations clustered in the low-medium score groups. The NIPBL-negative group included patients covering the entire clinical spectrum. The prevalence of a severe phenotype in the mutated group and a mild phenotype in the non-mutated group was statistically significant. In terms of the isolated clinical signs, the statistically significant differences between the mutation-positive and mutation-negative individuals were pre- and post-natal growth deficits, limb reduction, and delayed speech development. The proposed score seems to be a valuable means of prioritizing the patients with CdLS to undergo an NIPBL mutation test.

Bilateral posterior medullary and cervical stroke: a case report.

Spinal strokes are often localised in the anterior spinal artery territory, whereas an involvement of the posterior spinal arteries (PSA) is uncommon, and usually unilateral. Bilateral PSA stroke is exceptional. A 70-year-old woman, after a mild head trauma, presented with cervical pain, left hypoaesthesia and sensitive ataxia, which then extended to the right hemibody, including face. A Doppler ultrasound showed an only systolic flow signal in the left vertebral artery (VA). MR showed a bilateral infarction extending from the posterior medulla oblongata to C4 and a left hypoplasic VA with lack of visualisation of the V3 segment. This case was peculiar, implying a bilateral stroke in the PSA territory, possibly related to a left VA dissection, and in the presence of a dominant PSA, originating from the hypoplasic VA and of hyposupply of posterior radiculomedullary arteries and anastomoses.

Diffusion-weighted MRI of maple syrup urine disease encephalopathy.

We report the case of a newborn child with maple syrup urine disease (MSUD), diagnosed at 10 days of life. Diffusion-weighted echoplanar MRI showed marked hyperintensity of the cerebellar white matter, the brainstem, the cerebral peduncles, the thalami, the dorsal limb of the internal capsule and the centrum semiovale, while conventional dual-echo sequence evidenced only a weak diffuse T2 hyperintensity in the cerebellar white matter and in the dorsal brainstem. The apparent diffusion coefficient (ADC) of these regions was markedly (>80%) decreased. Therefore, in agreement with current hypotheses on MSUD pathogenesis, MSUD oedema proves to be a cytotoxic oedema. Diffusion-weighted MRI may be a valuable tool, more sensitive than conventional spin-echo techniques, to assess the extent and progression of cytotoxicity in MSUD, as well as the effectiveness of the therapeutic interventions.

Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family.

Families with mentally retarded males found to be negative for FRAXA and FRAXE mutations are useful in understanding the genetic basis of X-linked mental retardation. According to the most recent data (updated to 1999), 69 MRX loci have been mapped and 6 genes cloned. Here we report on a linkage study performed on 20 subjects from a 4-generation Sardinian family segregating a non-specific X-linked recessive mental retardation (XLMR)(MRX72) associated with global delay of all psychomotor development. Five of 8 affected males have been tested for mental age, verbal and performance skills and behavioral anomalies; mental impairment ranged from mild to severe. Only minor anomalies were present in the affected subjects. Two-point linkage analysis based on 28 informative microsatellites spanning the whole X chromosome demonstrated linkage between the disorder and markers DXS1073 and F8c in Xq28 (maximum Lod score of 2. 71 at straight theta = 0.00). Multipoint linkage analysis confirmed the linkage with a Z(max) of 3.0 at straight theta = 0.00 at DXS1073 and F8c. Recombination in an affected male at DXS1073 and F8c allowed us to delimit centromerically and telomerically the region containing the putative candidate gene. The region, where MRX72 maps, overlaps that of another MRX families previously mapped to Xq28, two of which harbored mutations in GDI. Involvement of this gene was excluded in our family, suggesting another MRX might reside in Xq28.

Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome.

Angelman syndrome is a neurobehavioral disorder caused by defects of imprinted gene(s) on chromosome 15q11-13. AS-specific DNA methylation is found in patients carrying 3-4 Mb deletions ( approximately 70%), paternal uniparental disomy (3-5%) or imprinting center mutations (2-9%), while normal methylation pattern with biparental inheritance characterizes the remaining approximately 20-25% AS patients (Stalker et al.,1998; Tsai et al.,1998). Mutations in the Ubiquitin protein ligase 3A gene (UBE3A) have been found in the latter group, but only preliminary figures are available on their frequencies. We selected a sample of 25 AS patients with a clinical diagnosis of AS and a normal methylation pattern in order to search for mutations of the UBE3A gene. Automated sequencing of exons 8, 9, 10, 11 and 12 performed on our 25 patients allowed us to identify three novel mutations: an 897insA in two unrelated familial cases, a 2544insA and an E167X in two sporadic cases. Mutation R482X previously reported in a sporadic patient was identified in a third familial case. Hum Mutat 15:387, 2000.

Imitation and utilisation behaviour.

OBJECTIVE: To investigate the incidence, anatomical correlates, and clinical features of imitation and utilisation behaviour, which are thought by Lhermitte and coworkers to represent a reliable and frequent index of frontal lobe disease. METHODS: 78 patients with hemispheric local lesions were tested in two separate sessions, in which their reactions to a series of gestures performed by the examiner and to the presentation of a set of objects were recorded. The patients were stratified into a frontal (n = 52) and a non-frontal group (n = 26) on the basis of their CT data. RESULTS AND CONCLUSIONS: Imitation behaviour was present in 39% of the frontal patients and was mainly associated with medial and lateral lesions, at odds with the claim of Lhermitte et al that it is a constant accompaniment of lower, mediobasal lesions. In the non-frontal group it was found in three patients, all with damage to the deep nuclei region. Utilisation behaviour was a much rarer phenomenon, present in only two patients, both of whom had frontal damage. Neither imitation behaviour nor utilisation behaviour were found in patients with retrorolandic cortical lesions.

Peripheral neuropathy in styrene-exposed workers.

BACKGROUND: The toxicity of styrene on the peripheral nervous system is still debated. CASES: The paper presents two cases of peripheral sensorimotor neuropathy in styrene-exposed workers. Exposure, evaluated by biological monitoring, ranged between 100 and 150% of the current limits proposed by the American Conference of Governmental Industrial Hygienists (ACGIH). The subjects complained of leg weakness and numbness, cramps, and paresthesia. Electrophysiology revealed a moderate peripheral sensorimotor neuropathy of a demyelinating type. Color-vision testing showed a subclinical deficit. Common inherited and acquired causes of peripheral neuropathy and dyschromatopsia other than styrene were ruled out by personal history, medical examination, laboratory data, and chest X-ray. CONCLUSIONS: The results suggest that long-term occupational exposure to environmental levels of styrene that are equal, or slightly above, the ACGIH limits can induce a clinical form of peripheral neuropathy and a subclinical impairment of color vision. As a consequence, a careful reappraisal of the real preventive meaning of the current ACGIH occupational limit for styrene, at least on an individual basis, is needed.

Amyotrophic lateral sclerosis with dementia.

Four patients with amyotrophic lateral sclerosis (ALS) and dementia are reported. Mental symptoms antedated motor signs and were investigated with a neuropsychology battery, which brought out different patterns of cognitive impairment. A case presented with frontal dementia, another with a predominant aphasic, apraxic, amnesic syndrome, while the remainders showed cognitive decline in association with blunt affect. Motor signs were characterized by a precocious involvement of the upper motor system.

[Clinical evaluation of a posterior photopolymerizing composite: results 4 years after application]. / Valutazione clinica di un composito fotopolimerizzabile per posteriori: risultati a distanza di 4 anni dalla applicazione.

The aim of this study was to examine clinical results of class I and class II composite restorations of forty two posterior teeth, considering pulpal vitality, dentinal sensitivity, marginal integrity, contact areas, color, gingival irritation and secondary decay. The restorations were evaluated over a four-year period. The results are considered satisfactory both from a chemical-physical and biological point of view. The Authors wish to outline the importance to improve the operative technique to minimize the disadvantages of these materials and to obtain better results. The Authors propose to carry out a later control to confirm these results.