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Biomedical subjects

J Mancini

Publications and source records attributed to J Mancini.

At least 55 records · Page 3Linked to original sources
PubMed1997

Ischemic cerebrovascular disease in children: retrospective study of 35 patients.

A 10-year review of a neuropediatric department experience with childhood ischemic cerebrovascular disease identified 35 patients with arterial ischemic stroke. The ability to diagnose stroke in children has improved with the development of imaging techniques in the past few years. Children have a wide array of risk factors for ischemic strokes, since some are acquired and others are congenital. Twenty-eight associated conditions (80%) were found in our patients and we identified 17 specific causes (48.5%) among them. The cause of stroke in children is important to recognize because stroke is likely to recur depending on the etiology.

Adolescent↗
PubMed1997

Neurologic onset of Behçet's disease: a diagnostic enigma in childhood.

Neuro-Behçet's disease, which is uncommonly reported in childhood, encompasses a wide variety of clinical features since any part of the neuraxis may be involved. It carries a serious prognosis and represents a leading cause of death or severe disability. Neuro-Behçet's disease may occur in 5% to 50% of adults with Behçet's disease and is usually subsequent to other systemic manifestations. In this report, we express the possibility of a primary neurologic presentation of Behçet's disease in childhood with pseudotumor cerebri and meningoencephalitis as exclusive initial features. We focus on diagnostic problems when major features of Behçet's disease are missing at the outset. We emphasize the high sensitivity of magnetic resonance imaging to make the diagnosis of cerebral vasculitis or thrombosis with a good reliability to clinical features.

Adolescent↗
PubMed1996

Weaning children from tube to oral feeding.

Most of the children seen by specialists in neonatalogy, neuropaediatrics or neurosurgery do not have any problems in starting with oral feeding after a period of tube feeding lasting between 15 and 20 days. Children who have been tube fed for a longer period, however, can find it very difficult or even impossible to re-establish oral feeding when they have sufficiently recovered from their underlying problem. To cope with this situation we propose a procedure based on the afferentation or re-afferentation of the oropharyngeal cavity by sensory stimulations and by re-establishment of the biological clock (circadian rhythm) by applying these stimulations during tube feeding at regular hours. In 19 children who showed difficulties oral feeding became possible a short time after such a procedure had been applied. If the principles of swallowing neurophysiology and the biological rhythm are respected, this procedure, which also involves a contribution from the family, leads to quicker oral feeding and shorter stay in hospital.

Adolescent↗
PubMed1996

Relapsing acute encephalopathy: a complication of diphtheria-tetanus-poliomyelitis immunization in a young boy.

UNLABELLED: Neurological complications of immunizations are rare. We report the case of relapsing acute encephalitis in a boy after two subsequent diphtheria-tetanus-poliomyelitis vaccinations. First the clinical signs were those of acute disseminated encephalitis. During the second episode, the boy experienced optic neuritis. Recovery was complete after both events. Because of the close temporal relationship of both these demyelinating episodes with the immunizations, we favour a cause and effect relationship. CONCLUSION: The observation of a 7-year-old boy who developed relapsing acute encephalitis after two diphtheria-tetanus-poliomyelitis vaccinations and a similar case in the literature suggests that this neurological manifestation may occur as a very rare complication of diphtheria-tetanus-poliomyelitis vaccination.

Cerebellar Cortex↗
PubMed1996

Characterization of Prostaglandin G/H Synthase 1 and 2 in rat, dog, monkey, and human gastrointestinal tracts.

BACKGROUND & AIMS: In the gastrointestinal tract, prostaglandins are implicated as important mediators of normal physiological processes. Prostaglandin G/H synthase (PGHS) is the first enzyme leading to the formation of prostaglandins. Two forms exist: the constitutive PGHS-1 and the inducible PGHS-2 isoforms. The purpose of this study was to examine the expression of PGHS-1 and -2 in gastrointestinal tissues. METHODS: PGHS-1 and -2 expression and activity were examined in rat, dog, monkey, and human gastrointestinal tracts by immunoblot and biochemical assays. RESULTS: PGHS-1 but not PGHS-2 protein was identified in all gastrointestinal tissues. PGHS-1 protein varied throughout the gastrointestinal tracts; interspecies differences were also noted. Immunohistochemical studies showed PGHS-1 staining of rat endothelial cells in all gastrointestinal regions; PGHS-2-specific staining was noted in a subset of macrophages in 3 of 22 rats examined. Elevated activity was shown in tissues expressing greater concentrations of PGHS-1 protein. Indomethacin, a nonsteroidal anti-inflammatory drug that inhibits both isoforms, inhibited prostaglandin synthesis, whereas NS-398, a selective PGHS-2 inhibitor, showed little or no inhibition of prostaglandin synthesis in gastrointestinal tissues. CONCLUSIONS: These results indicate that prostaglandins produced in normal gastrointestinal tissue and required for normal physiological functioning are derived from the PGHS-1 isoform.

Amino Acid Sequence↗
PubMed1995

Cyclooxygenase-2 inhibitors. Synthesis and pharmacological activities of 5-methanesulfonamido-1-indanone derivatives.

The recent discovery of an alternative form cyclooxygenase (cyclooxygenase-2, COX-2), which has been proposed to play a significant role in inflammatory conditions, may provide an opportunity to develop anti-inflammatory drugs with fewer side effects than existing non-steroidal anti-inflammatory drugs (NSAIDs). We have now identified 6-[(2,4-difluorophenyl)-thio]-5-methanesulfonamido-1-indanone++ + (20) (L-745,337) as a potent, selective, and orally active COX-2 inhibitor. The structure-activity relationships in this series have been extensively studied. Ortho- and para-substituted 6-phenyl substitutents are optimal for in vitro potency. Replacement of this phenyl ring by a variety of heterocycles gave compounds that were less active. The methanesulfonamido group seems to be the optimal group at the 5-position of the indanone system. Compound 20 has an efficacy profile that is superior or comparable to that of the nonselective COX inhibitor indomethacin in animal models of inflammation, pain, and fever and appears to be nonulcerogenic within the dosage ranges required for functional efficacy. Although 20 and its oxygen linkage analog 2 (flosulide) are equipotent in the in vitro assays, compound 20 is more potent in the rat paw edema assay, has a longer t1/2 in squirrel monkeys, and seems less ulcergenic than 2 in rats.

Animals↗
PubMed1995

Expression of developmentally regulated cytoskeleton and cell surface proteins in childhood spinal muscular atrophies.

Expression of some developmentally regulated cytoskeleton components (desmin, vimentin and myosin heavy chain isoforms) and cell surface proteins (including neural cell adhesion molecule (NCAM), its polysialylated (PSA) isoform and CD24) have been studied by immunohistochemical detection in a series of 23 infantile spinal muscular atrophies (SMA). According to the clinical classification established by Byers and Banker in 1961, 8 cases were type I SMA (Werdnig-Hoffmann's disease), 10 cases were type II (intermediate form), and 5 cases were type III (Kugelberg-Welander's disease). In 15 cases, the percentage of immunoreactive fibers with the various antibodies used has been quantified and the results correlated with clinical data. The aim of the study was to search for variations in the pattern of expression of the proteins to improve the accuracy of diagnosis and prognosis, and to gain an understanding of the pathological processes involved in SMA. The results showed that the pattern of expression of these cytoskeleton and cell surface proteins is abnormal in all types of SMA. However, it was strikingly different in type I and II SMA as opposed to type III. In type I and II SMA, strong NCAM and developmental myosin heavy chain (MHC) expression was observed in atrophic fibers. Numerous atrophic fibers co-expressed desmin and vimentin as well as slow and fast adult MHC. Very few of them expressed PSA NCAM, fetal MHC and CD24. In type III SMA, the number of fibers expressing NCAM, developmental MHC and co-expressing slow and fast adult MHC was low and virtually none of them expressed vimentin or desmin. These findings are in favor of a denervation process occurring very early in life, probably even in utero, in type I and II SMA and leading to a severe impairment of muscle fibers maturation. In contrast, in type III SMA, the process is initiated well after birth and affects mature muscle fibers. In all types of SMA, the ability of muscle fibers to regenerate is low, although some fibers may be reinnervated. Immunohistochemical data was not related to the patients follow-up and thus has no prognostic value.

Adolescent↗
PubMed1995

Pharmacology of a selective cyclooxygenase-2 inhibitor, L-745,337: a novel nonsteroidal anti-inflammatory agent with an ulcerogenic sparing effect in rat and nonhuman primate stomach.

Recent studies have shown that there are two isoforms of cyclooxygenases. The constitutive form, cyclooxygenase 1 (COX-1), is believed to be involved in the maintenance of physiological functions. A second isoform, cyclooxygenase 2 (COX-2), has been shown to be induced in inflammation. In the present study, the pharmacology of a selective inhibitor of COX-2, L-745,337 (5-methanesulfonamido-6-(2,4-difluorothiophenyl)-1-indano ne), is described. L-745,337 has IC50 values of 23 +/- 8 nM and > 10 microM for the inhibition of prostaglandin E2 production in whole-cell assays for COX-2 and COX-1, respectively. This compound inhibited carrageenan-induced rat paw edema and rat paw hyperalgesia with ID50 values of 2.00 and 0.37 mg/kg, respectively. In an endotoxin-induced pyresis assay in the rat, L-745,337 significantly reversed the pyretic responses (ID50 = 3.75 mg/kg). L-745,337 did not cause visible gastric lesions in rats at up to 30 mg/kg (4 hr after dosing). In a fecal 51chromium (51Cr) excretion assay to detect gastrointestinal integrity in rats and primates, L-745,337 had no effect at doses up to 100 mg/kg (rat) or after chronic dosing at 20 mg/kg per day for 5 days (primates). In contrast, oral administration of indomethacin, diclofenac or flurbiprofen resulted in substantial increase in fecal 51Cr excretion and/or frank gastric ulceration (rats). L-745,337 significantly inhibited the prostaglandin E2 levels in the inflammatory exudates from the rat pleural cavity after injection with carrageenan but did not inhibit prostaglandin E2 levels in the stomach.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1994

Valproate-induced hepatic failure in a case of cytochrome c oxidase deficiency.

We report a 3 year-old girl with a myoclonic epilepsy. A fatal hepatic failure occurred after 3 months of valproate (VPA) therapy. In this patient, a defect of cytochrome c oxidase (COX) was demonstrated in her circulating lymphocytes. The enzyme was also found to be deficient in post-mortem liver and in cultured skin fibroblasts. However, a fully functional respiratory chain was found in muscle. VPA administration apparently triggered the hepatic failure, given this patient's background of partial COX deficiency.

Amino Acids↗
PubMed1994

Face recognition in children with early right or left brain damage.

Development of face processing after unilateral brain lesions sustained before one year of age was assessed in children aged between seven and 10 years by various tasks involving face processing. Each child was paired with an age- and IQ-matched control. There were three unilateral right-hemisphere lesions and three unilateral left lesions. The results showed that some of the skills relative to face processing were preserved (or recovered?), whereas other skills were severely impaired; the pattern varied from one child to another. The existence of these dissociations shows that preservation of low-level visual processing together with exposure to the appropriate stimuli for several years is by no means sufficient for face processing skills to develop normally.

Brain Damage, Chronic↗
PubMed1994

Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy.

Pyruvate dehydrogenase deficiency is one of the most common causes of encephalopathy associated with lactic acidosis and is known to account for congenital lactic acidosis, recurrent ataxia, and infantile Leigh syndrome. Hitherto, however, peripheral neuropathy has not been regarded as a presenting symptom of pyruvate dehydrogenase deficiency. Here, we report on a boy who presented peripheral neuropathy with severe limb hypotonia, absent deep-tendon reflexes, and reduced motor nerve conduction velocities at 8 months of age. Persistent hyperpyruvicemia with normal lactate/pyruvate molar ratios in plasma were highly suggestive of a pyruvate dehydrogenase deficiency, and the determination of pyruvate dehydrogenase activity in circulating lymphocytes led to the diagnosis of pyruvate decarboxylase (PDH-E1) deficiency in the proband. Based on this observation, we suggest that pyruvate dehydrogenase deficiency should be considered in the diagnosis of peripheral neuropathy in infancy, especially when associated with persistent hyperpyruvicemia, normal lactate/pyruvate molar ratios in plasma, and recurrent episodes of drowsiness and hypotonia of unknown origin.

Brain↗
PubMed1994

Choristoma of the intracranial maxillary nerve in a child. Case report.

This report describes what the authors believe to be the first reported case of choristoma of the intracranial maxillary nerve. This 12-year-old girl presented with a 5-year history of severe isolated left-sided trigeminal neuralgia. Computerized tomography and magnetic resonance imaging revealed a mass below the anterior portion of the left cavernous sinus, enlarging the foramen rotundum. Total resection was achieved via a pterional extradural approach. Histological examination revealed a choristoma composed of smooth-muscle fibers. The histogenesis of these tumors when they develop in a nerve remains unclear. They may represent abnormal migration or proliferation of neuroectodermal tissue in or close to a peripheral nerve. Total removal of these tumors should be attempted at initial diagnosis.

Actin Cytoskeleton↗
PubMed1994

Genetic heterogeneity of familial hemiplegic migraine.

Familial hemiplegic migraine (FHM) is an autosomal dominant variety of migraine with aura. We previously mapped a gene responsible for this disorder to the short arm of chromosome 19, within a 30-cM interval bracketed by D19S216 and D19S215. Linkage analysis conducted on two large pedigrees did not show any evidence of heterogeneity, despite their clinical differences due to the presence, in one family, of cerebellar ataxia and nystagmus. Herein we report linkage data on seven additional FHM families including another one with cerebellar ataxia. Analysis was conducted with a set of seven markers spanning the D19S216-D19S215 interval. Two-point and multipoint lod score analyses as well as HOMOG testing provided strong evidence for genetic heterogeneity. Strong evidence of linkage was obtained in two families and of absence of linkage in four families. The posterior probability of being of the linked type was > .95 in the first two families and < .01 in four other ones. It was not possible to draw any firm conclusion for the last family. Thus, within the nine families so far tested, four were linked, including those with associated cerebellar ataxia. We could not find any clinical difference between the pure FHM families regardless of whether they were linked. In addition to the demonstration of genetic heterogeneity of FHM, this study also allowed us to establish that the most likely location of the gene was within an interval of 12 cM between D19S413 and D19S226.

Ataxia↗