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J Mancini

Publications and source records attributed to J Mancini.

At least 73 records · Page 4Linked to original sources
PubMed1993

Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

OBJECTIVE: Mevalonic aciduria is a consequence of the deficiency of mevalonate kinase, the first enzyme after 3-hydroxy-3-methylglutaryl-coenzyme A reductase in the biosynthesis of cholesterol and nonsterol isoprenes. To establish the clinical and biochemical phenotype of mevalonic aciduria, the authors assembled their experience with 11 patients including attempts at therapeutic interventions. METHODS: Mevalonic acid in body fluids was determined by stable isotope dilution gas chromatography/mass spectroscopy with selected ion monitoring, ubiquinone-10 concentrations by reversed-phase high-pressure liquid chromatography. RESULTS: Varying degrees of severity of clinical illness were observed despite uniform, virtual absence of residual activity of the enzyme. The most severely affected patients have had profound developmental delay, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, and anemia, as well as diarrhea and malabsorption, and have died in infancy. Less severely affected patients have had psychomotor retardation, hypotonia, myopathy, and ataxia. All patients have had recurrent crises in which there was fever, lymphadenopathy, increase in size of liver and spleen, arthralgia, edema, and a morbilliform rash. Neuroimaging studies revealed selective and progressive atrophy of the cerebellum. Mevalonic acid concentrations were found to be grossly elevated in body fluids of all patients. Concentrations of plasma cholesterol were normal or only slightly reduced. Concentrations of ubiquinone-10 in plasma were found to be decreased in most patients. Abnormalities such as hypoglycemia, metabolic acidosis, or lactic acidemia, the usual concomitants of disorders of organic acid metabolism, were conspicuously absent. CONCLUSIONS: These observations establish the broad range of clinical symptoms and biochemical findings in mevalonic aciduria. It is concluded that although patients with mevalonic aciduria have a recognizable phenotype of serious clinical manifestations, some patients are likely to remain undiagnosed and may be found in a variety of subspecialty clinics, including neurology, gastroenterology, cardiology, and genetics.

Abnormalities, Multiple↗
PubMed1992

[Spinal cord tumor with meningeal invasiveness revealed by intracranial hypertension syndrome].

The association of hydrocephalus and intramedullary spinal-cord tumor with leptomeningeal spread is described in a 20 month-old boy. The pathogenesis of increased intracranial pressure in spinal cord tumor is discussed. Meningeal gliomatosis is rare and is more often observed in the follow-up of cerebral gliomas. It exceptionally occurs in patients without known cerebral or spinal tumor. Such a tumor often occurs in young patients and has a poor prognosis.

Glioma↗
PubMed1992

[Neonatal hyperchloremia related to bromide poisoning].

Hyperchloremia may reveal bromism during the neonatal period. The authors report on two cases of neonatal bromism. The first case concerns triplets without clinical signs although the children and their mother displayed hyperchloremia. In the other case a 6 week old infant displayed neurological abnormalities associated with hyperchloremia and elevated plasma bromide levels.

Adult↗
PubMed1991

[Outcome of herpetic encephalitis. Apropos of 10 cases].

Ten cases of herpetic encephalitis in children aged 2 months to 13 1/2 years at onset are reviewed retrospectively. There were four infants and six children 3 to 13 1/2 years old. Diagnosis was established on the basis of widely accepted electroclincal and neuroradiological criteria. Biologic confirmation was obtained in only half the cases. Two patients died during the initial episode. One patient was lost to follow-up two months after the first episode. Follow-ups ranged from 2 to 10 years for the seven remaining patients. Epilepsy and neurodevelopmental impairment occurred in a significant number of cases (5/7 and 6/7 respectively). Two patients had two episodes and one had more than two episodes of encephalitis. This poor outcome is discussed, as well as possible explanations for recurrent disease and particular neuropsychologic patterns, including Kluver-Bucy syndrome seen in two patients of this series.

Adolescent↗
PubMed1991

[Medulloblastoma in children. Current treatments and future perspectives].

The various treatments currently available for medulloblastoma are reviewed and modifications which have occurred over the last ten years are analyzed. Surgery is the first step of the treatment of a medulloblastoma. Recent advances in neurosurgical anesthesia and intensive care have substantially improved the quality and extent of exeresis and markedly reduced operative mortality (currently under 2%). Radiotherapy of the entire central nervous system should follow surgery in every case. Use of high energy radiations (together with improvements in surgical treatment) have increased survival rates to 50-60%. However, side effects are frequent. The modalities and timing of chemotherapy have also changed considerably over the last ten years; the different modalities currently used are reviewed, as well as the strategies available for reducing toxic effects and hematologic complications. Currently, chemotherapy is "sandwiched" between surgery and radiotherapy. Treatments under evaluation (monoclonal antibodies, immunotoxins, and immunomodulation) are discussed. The purpose of this therapeutic strategy for medulloblastomas is not only to increase survival rates but, above all, to improve the quality of life in survivors. Close cooperation between health care professionals of the different specialties involved and long term multicenter studies are indispensable if this goal is to be achieved.

Adolescent↗
PubMed1990

[A cerebral abscess due to Listeria monocytogenes in a 15-month-old infant].

We report a case of brain abscess due to Listeria monocytogenes in an infant. We recall that listeriosis is infrequent in pediatric patients beyond the neonatal period, that most cases occur in immunocompromised hosts, and that clinical features are non-specific in neuromeningeal forms. Management of brain abscesses is discussed. The role of the patient's general health condition seems to have a determinant influence on prognosis.

Brain Abscess↗
PubMed1989

Indications of radiological explorations in partial epilepsy of childhood.

In partial epilepsy of childhood the decision to request radiological exploration rests on a good knowledge of the disease. The authors summarize the electrical and clinical features of the various types of partial epilepsy. Most of these types, and in particular benign partial epilepsy with rolandic paroxysms, require no exploration. In contrast, symptomatic partial epilepsy must be investigated in search of a brain lesion. In such cases CT is indispensable. The more accurate and more sensitive MRI may be performed either initially or after a negative CT scanning in children with partial epilepsy which does not respond to medical treatment.

Child↗
PubMed1989

Magnetic resonance imaging in partial epilepsy of childhood. Seventy-nine cases.

A heterogeneous series of 79 children with partial epilepsy was studied by computerized tomography (CT) and magnetic resonance imaging (MRI) to evaluate the contribution of MRI to the aetiological diagnosis of that disease. Both CT and MRI were normal in 13 cases and abnormal in 41 cases showing the same pathology (malformation, atrophy, tumour, scar). In 4 cases of continuous partial epilepsy the lesions observed were either diffuse or focal corresponding to the electrical focus, and they could be due to Rasmussen's encephalitis. In 19 cases where CT gave normal results, MRI showed bilateral high-intensity signal areas of uncertain significance in the white matter of the caudal part of the hemispheres. All considered, it seems that with its greater sensitivity MRI should be the first or only exploratory method to be used in the evaluation of partial epilepsy of childhood.

Adolescent↗
PubMed1988

[Multimodal evoked potentials in partial epilepsy in children].

A multimodal evoked potential study was realised in three groups of children or adolescents 5 to 15 years old. The first group included 25 normal non-epileptic subjects; the second group was composed of 27 subjects with partial idiopathic epilepsy (PIE) (benign childhood epilepsy with centro-temporal spike; childhood epilepsy with occipital paroxysms); the third group was formed of 20 subjects with partial symptomatic epilepsy (PSE) without patent anatomical lesion or with anatomical lesion. Recording for each subject included: flash visual evoked potentials, pattern visual evoked potentials, brainstem auditory evoked potentials and somatosensory evoked potentials. Each curve obtained was studied for the response morphology, the measure of the different wave latencies, the inter-peak latencies (conduction time) and the amplitudes. A statistical treatment of the data was performed to evaluate the significance of variation of the different parameter values obtained for the various groups. Among the significantly modified parameters, we found: an increase of the amplitudes in the PIE and a decrease in the PSE, specially when an anatomical lesion exists; an asymmetrical amplitude of the somatosensory responses in the PIE with centro-temporal spike; an increase of the central somatosensory conduction time in the PSE with anatomical lesion.

Adolescent↗
PubMed1987

Variability of quantitative digital subtraction coronary angiography before and after percutaneous transluminal coronary angioplasty.

Quantitative coronary angiography has been proposed as a means of reducing observer variability in the interpretation of coronary angiograms, especially before and after percutaneous transluminal coronary angioplasty (PTCA). Analysis of 13 consecutively acquired biplane digital subtraction angiograms before and after PTCA was undertaken to determine intra- and interobserver variability of absolute lesion diameter, relative videodensitometric cross-sectional area, automated percent diameter stenosis and visual percent diameter stenosis using a new fully automated quantitative computer program. The reliability of single-view measurements was also assessed. Both before and after PTCA, measures of absolute diameter showed less interobserver variability than densitometry, percent automated diameter stenosis and percent visual diameter stenosis measurements (before, r = 0.95, 0.83, 0.86, 0.70; after, 0.95, 0.88, 0.81, 0.62, respectively). Relative videodensitometric cross-sectional area correlated poorly with images from the orthogonal view (r = 0.46). These data suggest that quantitative angiography reduces variability from visual estimates; of all quantitative angiographic measurements, the highest interobserver reproducibility is achieved using absolute lesion diameter both before and after PTCA, probably because no operator interaction is needed to identify a "normal" segment. Unselected, single-view quantitative arteriography is poorly reproducible using videodensitometry. Therefore, automated determination of absolute lesion diameter in at least 2 projections provides the most reproducible evaluation of coronary lesions both before and after PTCA.

Angioplasty, Balloon↗
PubMed1983

Comparison of digital intravenous ventriculography with direct left ventriculography for quantitation of left ventricular volumes and ejection fractions.

Digital images of the left ventricle obtained at 30 frames/second from continuous fluoroscopy after intravenous injection of contrast medium (digital intravenous ventriculography) were used to estimate left ventricular (LV) volumes and ejection fraction with use of several techniques for identifying the ventriculographic silhouette. The digital technique was compared with direct contrast left ventriculography in 26 patients undergoing diagnostic cardiac catheterization. End-diastolic and end-systolic volumes calculated from digital intravenous and direct left ventriculograms were obtained with use of a standard area-length formula. Both end-diastolic volume (EDV) (r = 0.88, y = 1.06x - 17.1 ml) and end-systolic volume (ESV) (r = 0.89, y = 0.96x + 0.43 ml) determined from digital intravenous ventriculography (mask mode images) correlated closely with those obtained by direct left ventriculography. Combining the EDV and ESV to define the relation between the 2 techniques yielded an even closer correlation (r = 0.96). There was also good correlation between the 2 techniques for measurement of ejection fraction (r = 0.81, standard error of the estimate 6.7%). Measurements from direct left ventriculography were frequently invalidated by ventricular arrhythmias during the time of opacification of the left ventricle; this was rarely the case for digital intravenous ventriculography. It is concluded that area-length estimates of LV volumes and ejection fraction can be accurately obtained from digital processing of fluoroscopic LV images after intravenous injection of contrast medium.

Arrhythmias, Cardiac↗
PubMed1983

Graduate nursing students and stress.

The purpose of this investigation was to determine the effectiveness of a stress management program (SMP). The research question was: What effect does a SMP have on the stress response of full time graduate nursing students? A secondary purpose was to determine personal and professional stressors experienced by graduate nursing students and their coping strategies. The SMP consisted of eight weekly one-hour sessions of demonstration and practice of the relaxation response, imagery, and diaphragmatic breathing. Caffeine intake was also reduced. The subjects were 30 female graduate nursing students between the ages of 25-43. They were randomly assigned to an experimental and a control group. Data collection consisted of weekly Palmar Sweat Prints (PSP), blood pressure measurements, and a Weekly Self-Report (WSR), designed to monitor adherence to the SMP by the experimental group and perceived stress and coping strategies of both groups. The A-State Anxiety Questionnaire and Rahe's Recent Life Changes Questionnaire (RRLQ) utilized a pre-/post-test design. Three of the four indicators demonstrated no significant differences in the stress response. The PSP indicated a significant difference (.05). RRLQ suggested no significant differences in the lives of the subjects of both groups. The WSR showed significantly more professionally generated stressors than personally generated stressors. The control group reported significantly less strategies for coping with stress than the experimental group. Although the SMP was not practiced as suggested, its presence in one's cognitive repertoire significantly affects stress response and coping. Implications of this study are numerous.(ABSTRACT TRUNCATED AT 250 WORDS)

Adaptation, Psychological↗
PubMedDate not supplied

MRI and localized proton MRS in early infantile form of neuronal ceroid-lipofuscinosis.

A patient with early infantile neuronal ceroid-lipofuscinosis was examined by magnetic resonance imaging (MRI) and image-guided localized proton MR spectroscopy of brain using short-stimulated echo times. T2-weighted MRI revealed generalized cerebral atrophy and a reduction in signal intensity in thalamus and striatum associated with the presence of hyperintense white matter. The proton MR spectrum is characterized by an unusual increase of the inositol and taurine signals and by a reduction in the level of N-acetyl-aspartate contrasting with the presence of signals from glutamate-glutamine. The presence of a resonance from N-acetyl-methyl protons of N-acetyl-glucosamine (2.04 ppm) borne by dolichol is discussed.

Brain↗